Human Disease Model Report: adenoid cystic carcinoma, multigenic, personalized

General Information

Name

adenoid cystic carcinoma, multigenic, personalized

FlyBase ID

FBhh0001331

Disease Ontology Term

adenoid cystic carcinoma

Parent Disease

OMIM

Overview

A personalized multigenic Drosophila model was used to assess possible therapeutic options for a patient with advanced metastatic adenoid cystic carcinoma (ACC). Assessment of tumorous tissue identified two changes common to most cases of ACC: truncation/fusion of MYB due to a translocation, and elevated NOTCH1 expression/activity. Other genomic changes in the tumorous tissue were judged unlikely to be pathogenic. However, several heterozygous germline variants likely to have deleterious effects were identified, affecting the genes FAT4, FAT1, FAT3, and ERCC2.

A transgenic fly model was developed that combined an activated form of the Drosophila ortholog of NOTCH1 (N), UAS-RNAi directed against orthologs of FAT4 (ft), FAT1/3 (kug), and ERCC2 (Xpd), plus a UAS construct carrying a truncated form of the human MYB gene (Hsap\MYB). Use of a GAL4 driver that resulted in substantial lethality allowed for an efficient robotics-based screen for suppression of lethality; extensive drug screening was performed, with an emphasis on multi-drug combinations. A 3-drug combination was identified and administered to the patient over 12 months, resulting in stabilization of the disease. After 12 months, resistance to the treatment developed, which was associated with new genomic amplifications and deletions in tumorous tissues.

[updated Mar. 2021 by FlyBase; FBrf0222196]

Disease Summary Information

Disease Summary: adenoid cystic carcinoma, multigenic, personalized

OMIM report

Human gene(s) implicated

Symptoms and phenotype

Adenoid cystic carcinoma (ACC) is a relatively rare form of cancer that most commonly develops in the salivary glands or other regions of the head and neck. ACC can occur in other parts of the body, such as the breast, skin, cervix in females, prostate gland in males, and various other areas. [NORD: Adenoid Cystic Carcinoma; 2021.03.29]

(FlyBase Curators, 2013-)

Genetics

A recurrent t(6;9)(q22–23;p23–24) translocation in ACC consistently results in a fusion of the MYB oncogene to the transcription factor gene NFIB (Stenman, 2013; pubmed:23821214).

(FlyBase Curators, 2013-)

Cellular phenotype and pathology

ACC tumors are characterized by a distinctive histological pattern of abnormal "nests" or cords of certain cells (epithelial cells) that surround and/or infiltrate ducts or glandular structures within the affected organ. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. [NORD: Adenoid Cystic Carcinoma; 2021.03.29]

(FlyBase Curators, 2013-)

Molecular information

MYB belongs to a family of proteins that functions as transcriptional regulators. The MYB protein contains three functional key domains, an N-terminal DNA-binding domain, a centrally located transcription activation domain, and a C-terminal negative regulatory domain involved in transcriptional repression (Stenman, 2013; pubmed:23821214).

(FlyBase Curators, 2013-)

In the MYB-NFIB fusion oncogene, which is highly overexpressed in ACC, the 3′-part of MYB, including target sites for negatively regulating microRNAs, is replaced by one or more of the last coding exons of NFIB. The predicted MYB-NFIB fusion proteins retain the DNA-binding and transactivation domains of MYB, and are therefore expected to activate MYB target genes (Stenman, 2013; pubmed:23821214).

(FlyBase Curators, 2013-)

External links

COSMIC fusion: MYB-NFIB
COSMIC gene: ERCC2
COSMIC gene: NOTCH1
COSMIC gene: MYB
COSMIC gene: FAT4
COSMIC gene: FAT1
COSMIC gene: FAT3
KEGG Disease Pathways: Pathways in Cancer
National Organization for Rare Disorders: Adenoid Cystic Carcinoma

Disease synonyms

ACC

adenocystic carcinoma

Related Diseases

Related human health report(s)

Ortholog Information

Human gene(s) in FlyBase

Hsap\MYB

Other mammalian ortholog(s) used

D. melanogaster Gene Information (4)

Dmel\Xpd

Gene Snapshot

Xeroderma pigmentosum D (Xpd) encodes a DNA helicase that is a subunit of the basal transcription and DNA repair factor TFIIH. [Date last reviewed: 2019-03-21]

Molecular function (GO)

Cellular component (GO)

Gene Groups / Pathways

Comments on ortholog(s)

High-scoring ortholog of human ERCC2 (1 Drosophila to 1 human).

Orthologs and Alignments from DRSC

DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans

H. sapiens (Human)

Dmel\N

Gene Snapshot

Contributions welcome

Molecular function (GO)

Cellular component (GO)

Gene Groups / Pathways

Comments on ortholog(s)

Moderate- to high-scoring ortholog of human NOTCH1, NOTCH2, NOTCH3 (1 Drosophila to multiple human).

Orthologs and Alignments from DRSC

DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans

H. sapiens (Human)

Dmel\ft

Gene Snapshot

fat (ft) is a tumor suppressor gene that encodes a large cadherin family transmembrane protein. It functions in the Hippo signaling pathway (as a receptor) and the Dachsous-Fat planar cell polarity pathway (as a transmembrane component). [Date last reviewed: 2019-03-07]

Molecular function (GO)

Cellular component (GO)

Gene Groups / Pathways

CDH
SWH-P

Comments on ortholog(s)

High-scoring ortholog of human FAT4 (1 Drosophila to 1 human).

Orthologs and Alignments from DRSC

DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans

H. sapiens (Human)

Dmel\kug

Gene Snapshot

kugelei (kug) (also known as Fat2 or Fat-like) encodes a member of the cadherin superfamily of transmembrane proteins, which mediate cell-cell adhesion and/or cell-cell communication. It is related to the product of ft and its roles include control of planar cell polarity, collective cell migration and morphogenesis. [Date last reviewed: 2019-03-14]

Molecular function (GO)

Cellular component (GO)

Gene Groups / Pathways

Comments on ortholog(s)

High-scoring ortholog of human FAT1, FAT2, FAT3 (1 Drosophila to multiple human).

Orthologs and Alignments from DRSC

DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans

H. sapiens (Human)

Other Genes Used: Viral, Bacterial, Synthetic (0)

Summary of Physical Interactions (124 groups)

Xpd

protein-protein

Interacting group

Assay

References

Xpd - Cdk7

anti bait coimmunoprecipitation, western blot

(Nag et al., 2018, Aguilar-Fuentes et al., 2006)

Xpd - Ciao1

pull down, western blot, anti tag coimmunoprecipitation, anti tag western blot

(Jung et al., 2020)

Xpd - crb

anti tag coimmunoprecipitation, anti tag western blot

(Yeom et al., 2015)

Xpd - galla-2

anti tag coimmunoprecipitation, anti tag western blot, western blot, anti bait coimmunoprecipitation

(Nag et al., 2018, Yeom et al., 2015)

Xpd - hay

anti bait coimmunoprecipitation, western blot

(Aguilar-Fuentes et al., 2006)

Xpd - Hsp23

anti tag coimmunoprecipitation, peptide massfingerprinting, experimental knowledge based

(Rhee et al., 2014)

Xpd - Hsp26

anti tag coimmunoprecipitation, peptide massfingerprinting, experimental knowledge based

(Rhee et al., 2014)

Xpd - Klp61F

pull down, anti tag western blot, anti tag coimmunoprecipitation

(Hwang et al., 2020)

Xpd - Mms19

anti tag coimmunoprecipitation, western blot

(Nag et al., 2018)

Xpd - Sams

anti tag coimmunoprecipitation, peptide massfingerprinting, experimental knowledge based

(Rhee et al., 2014)

Xpd - Ssl1

anti bait coimmunoprecipitation, western blot

(Aguilar-Fuentes et al., 2008)

protein-protein

Interacting group

Assay

References

two hybrid, enzyme linked immunosorbent assay

(Pei and Baker, 2008, Fortini and Artavanis-Tsakonas, 1994)

N - Abl

anti bait coimmunoprecipitation, western blot

(Koca et al., 2022)

N - Akap200

anti tag coimmunoprecipitation, western blot, anti tag western blot

(Bala Tannan et al., 2018)

N - arm

anti bait coimmunoprecipitation, western blot

(Koca et al., 2022, Hayward et al., 2005)

N - Atg8a

proximity ligation assay, fluorescence microscopy

(Katz et al., 2025)

N - baz

anti tag coimmunoprecipitation, anti tag western blot

(Wu et al., 2024)

N - Caf1-55

anti tag coimmunoprecipitation, anti tag western blot

(Yu et al., 2013)

N - Caf1-105

anti tag coimmunoprecipitation, anti tag western blot

(Yu et al., 2013)

N - Caf1-180

anti tag coimmunoprecipitation, anti tag western blot

(Yu et al., 2013)

N - Cdk8

pull down, western blot

(Park et al., 2003)

N - CG10916

experimental knowledge based

(Guruharsha et al., 2011)

N - Chi

pull down, western blot, anti tag coimmunoprecipitation

(Sachan et al., 2015)

N - cno

anti tag coimmunoprecipitation, autoradiography, western blot, two hybrid, anti bait coimmunoprecipitation

(Pérez-Gómez et al., 2013, Carmena et al., 2006)

N - crb

proximity ligation assay, fluorescence microscopy

(Nemetschke and Knust, 2016)

N - D

affinity technology, tag visualisation by alkaline phosphatase activity

(Pérez et al., 2005)

N - Dab

anti bait coimmunoprecipitation, western blot, pull down, anti tag coimmunoprecipitation, autoradiography

(Kannan et al., 2018, Le Gall et al., 2008, Le Gall and Giniger, 2004, Giniger, 1998)

N - Delta

phenotype-based detection assay, anti bait coimmunoprecipitation, western blot, bead aggregation assay, fluorescence microscopy, inferred by author, enzyme linked immunosorbent assay, cross-linking study, affinity technology, atomic force microscopy, pull down, tag visualisation by alkaline phosphatase activity, tag visualisation

(Pandey et al., 2019, Yamamoto et al., 2012, Acar et al., 2008, Pei and Baker, 2008, Xu et al., 2007, Parks et al., 2006, Ahimou et al., 2004, Bruckner et al., 2000, Wesley and Saez, 2000, Wesley, 1999, Rebay et al., 1991, Fehon et al., 1990)

N - dsh

pull down, western blot, anti bait coimmunoprecipitation, two hybrid, autoradiography

(Capilla et al., 2012, Muñoz-Descalzo et al., 2010, Hayward et al., 2005, Ramain et al., 2001, Axelrod et al., 1996)

N - dx

two hybrid, cosedimentation in solution, predetermined participant, anti tag coimmunoprecipitation, western blot, anti tag western blot, nuclear magnetic resonance

(Carter et al., 2023, Shimizu et al., 2014, Muñoz-Descalzo et al., 2010, Matsuno et al., 1995, Diederich et al., 1994)

N - Eip75B

anti tag coimmunoprecipitation, western blot, proximity ligation assay, fluorescence microscopy

(Wang et al., 2024)

N - Eogt

enzymatic study

(Sakaidani et al., 2011)

N - htk

anti bait coimmunoprecipitation, anti tag western blot, anti tag coimmunoprecipitation, western blot, two hybrid

(Singh et al., 2019)

N - Kap-α3

pull down, western blot, two hybrid, anti tag coimmunoprecipitation

(Sachan et al., 2013)

N - kuz

protease assay, western blot, inferred by author

(Pan and Rubin, 1997)

N - lilli

anti tag coimmunoprecipitation, anti tag western blot

(Liu et al., 2017)

N - mam

protein three hybrid, three hybrid, anti tag coimmunoprecipitation, peptide massfingerprinting

(Gahr et al., 2019, Nagel et al., 2017, Yuan et al., 2016, Maier et al., 2011, Veraksa et al., 2005, Petcherski and Kimble, 2000)

N - mask

two hybrid, anti bait coimmunoprecipitation, western blot

(Sarkar et al., 2025)

N - MED17

pull down, western blot

(Park et al., 2003)

N - MED21

pull down, western blot

(Park et al., 2003)

N - MED31

pull down, western blot

(Park et al., 2003)

N - msn

coimmunoprecipitation, western blot

(Mishra et al., 2015)

N - ND-30

anti tag coimmunoprecipitation, western blot

(Lee et al., 2013)

N - Nedd4

anti tag coimmunoprecipitation, western blot, pull down

(Sakata et al., 2004)

N - numb

two hybrid, pull down, autoradiography

(Guo et al., 1996)

N - Ofut1

anti tag coimmunoprecipitation, western blot, anti tag western blot

(Sasamura et al., 2007, Okajima et al., 2005)

N - Pink1

anti tag coimmunoprecipitation, western blot

(Lee et al., 2013)

N - Pngl

experimental knowledge based

(Guruharsha et al., 2011)

N - polo

experimental knowledge based

(Guruharsha et al., 2011)

N - pyd

anti tag coimmunoprecipitation, anti tag western blot

(Shimizu et al., 2017)

N - Rbfox1

anti bait coimmunoprecipitation, western blot

(Shukla et al., 2017)

N - sca

anti tag coimmunoprecipitation, western blot

(Petruccelli et al., 2018)

N - Ser

affinity technology, tag visualisation by alkaline phosphatase activity, pull down, fluorescence microscopy, inferred by author, tag visualisation, bead aggregation assay, anti bait coimmunoprecipitation, cross-linking study, western blot, anti tag coimmunoprecipitation, confocal microscopy

(Pandey et al., 2019, Fleming et al., 2013, Pérez-Gómez et al., 2013, Yamamoto et al., 2012, Kim et al., 2010, Xu et al., 2007, Pérez et al., 2005, Wesley, 1999, Rebay et al., 1991)

N - shg

anti bait coimmunoprecipitation, western blot

(Sasaki et al., 2007)

N - spdo

anti bait coimmunoprecipitation, western blot, anti tag coimmunoprecipitation, anti tag western blot, pull down

(Upadhyay et al., 2013, O'Connor-Giles and Skeath, 2003)

N - Su(dx)

nuclear magnetic resonance, pull down, molecular weight estimation by staining, isothermal titration calorimetry, predetermined participant, autoradiography, western blot

(Yao et al., 2018, Jennings et al., 2007, Wilkin et al., 2004)

N - Su(H)

anti bait coimmunoprecipitation, western blot, pull down, autoradiography, anti tag coimmunoprecipitation, isothermal titration calorimetry, predetermined participant, two hybrid, coimmunoprecipitation, protein three hybrid, anti tag western blot, electrophoretic mobility shift assay, electrophoretic mobility supershift assay, peptide massfingerprinting, three hybrid, cosedimentation, molecular sieving, molecular weight estimation by staining, electron microscopy

N - Taf9

anti tag coimmunoprecipitation, anti tag western blot

(Xie et al., 2014)

N - Traf6

anti tag coimmunoprecipitation, western blot, pull down, two hybrid

(Mishra et al., 2014)

N - trio

anti bait coimmunoprecipitation, western blot

(Kannan et al., 2018, Le Gall et al., 2008)

N - uif

anti tag coimmunoprecipitation, anti tag western blot

(Loubéry et al., 2014)

N - Vps26

anti tag coimmunoprecipitation, anti tag western blot

(Li et al., 2018)

N - Vps35

anti tag coimmunoprecipitation, anti tag western blot

(Li et al., 2018)

N - wg

anti bait coimmunoprecipitation, cross-linking study, western blot

(Wesley, 1999)

N - wry

inferred by author, confocal microscopy, bead aggregation assay

(Kim et al., 2010)

N - yki

proximity ligation assay, fluorescence microscopy

(Wang et al., 2024)

N - zip

anti bait coimmunoprecipitation, western blot, anti tag western blot, Identification by mass spectrometry

(Verma et al., 2024)

RNA-protein

Interacting group

Assay

References

N - Sxl

nucleic acid uv cross-linking assay, autoradiography, anti bait coimmunoprecipitation, quantitative reverse transcription pcr

(Penn and Schedl, 2007)

N - TBPH

pull down, quantitative reverse transcription pcr

(Swain et al., 2016)

protein-protein

Interacting group

Assay

References

anti tag coimmunoprecipitation, western blot, anti tag western blot

(Sopko et al., 2009)

ft - Aldo

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - AP-1-2β

anti tag coimmunoprecipitation, anti tag western blot, peptide massfingerprinting

(Kwon et al., 2013, Kwon et al., 2013)

ft - AP-2α

anti tag coimmunoprecipitation, peptide massfingerprinting, anti tag western blot

(Kwon et al., 2013, Kwon et al., 2013)

ft - app

anti bait coimmunoprecipitation, anti tag western blot, colocalization, fluorescence microscopy, inferred by author

(Matakatsu and Fehon, 2024, Matakatsu et al., 2017)

ft - ATPsynC

pull down, anti tag western blot, two hybrid

(Sing et al., 2014)

ft - Bub3

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - capt

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - CG3226

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - CG3760

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - CG5174

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - cora

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - Cortactin

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - cPges

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - Ctf4

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - dco

anti tag coimmunoprecipitation, anti tag western blot

(Pan et al., 2013, Feng and Irvine, 2009, Sopko et al., 2009)

ft - Dlish

colocalization, fluorescence microscopy, inferred by author, anti tag coimmunoprecipitation, western blot, anti tag western blot, pull down

(Matakatsu and Fehon, 2024, Fulford et al., 2023, Misra and Irvine, 2016, Zhang et al., 2016)

ft - Dp1

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - ds

anti bait coimmunoprecipitation, anti tag western blot, colocalization, fluorescence microscopy, inferred by author, affinity technology, enzymatic reaction, ultraviolet-visible spectroscopy, anti tag coimmunoprecipitation, bead aggregation assay

(Matakatsu and Fehon, 2024, Tripathi and Irvine, 2024, Brittle et al., 2010, Simon et al., 2010, Matakatsu and Blair, 2004)

ft - eIF4G1

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - ena

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - ex

anti tag coimmunoprecipitation, western blot, proximity ligation assay, fluorescence microscopy, pull down, anti tag western blot

(Fulford et al., 2023)

ft - faf

anti tag coimmunoprecipitation, anti tag western blot

(Dawson et al., 2025)

ft - Fbxl7

anti tag coimmunoprecipitation, anti tag western blot

(Bosch et al., 2014)

ft - Fim

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - fj

anti tag coimmunoprecipitation, anti tag western blot, enzymatic study, autoradiography

(Brittle et al., 2010, Ishikawa et al., 2008)

ft - Gug

two hybrid, pull down, anti tag western blot

(Sing et al., 2014, Fanto et al., 2003)

ft - Hem

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - Hrs

anti tag coimmunoprecipitation, peptide massfingerprinting, anti tag western blot

(Kwon et al., 2013, Kwon et al., 2013)

ft - Inos

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - Larp4B

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - Lasp

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - lft

anti tag coimmunoprecipitation, anti tag western blot

(Mao et al., 2009)

ft - mats

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - msn

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - Mtpα

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - Mtpβ

anti tag coimmunoprecipitation, anti tag western blot, peptide massfingerprinting

(Kwon et al., 2013, Kwon et al., 2013)

ft - ND-24

two hybrid, pull down, anti tag western blot

(Sing et al., 2014)

ft - Nup50

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - Nup358

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - PIP4K

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - pnut

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - Prp19

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - RanGAP

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - RnrS

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - Sec13

anti tag coimmunoprecipitation, peptide massfingerprinting, anti tag western blot

(Kwon et al., 2013, Kwon et al., 2013)

ft - Sec31

anti tag coimmunoprecipitation, anti tag western blot, peptide massfingerprinting

(Kwon et al., 2013, Kwon et al., 2013)

ft - Septin2

anti tag coimmunoprecipitation, peptide massfingerprinting, anti tag western blot

(Kwon et al., 2013, Kwon et al., 2013)

ft - shi

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - Su(var)3-9

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - TER94

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

ft - UQCR-C1

two hybrid

(Sing et al., 2014)

ft - Vap33

anti tag coimmunoprecipitation, peptide massfingerprinting

(Kwon et al., 2013)

kug

protein-protein

Interacting group

Assay

References

kug - Abi

pull down, molecular weight estimation by staining

(Squarr et al., 2016)

kug - HSPC300

pull down, molecular weight estimation by staining

(Squarr et al., 2016)

Alleles Reported to Model Human Disease (Disease Ontology) (46 alleles)

Xpd

Models Based on Experimental Evidence ( 10 )

Allele

Disease

Evidence

References

Xpd^SH2137

model of xeroderma pigmentosum

CEA with Xpd^G675R

(Stettler et al., 2015)

CEA with Xpd^R601L

(Stettler et al., 2015)

CEA with Xpd^R683W

(Stettler et al., 2015)

CEA with Xpd^G47R

(Stettler et al., 2015)

CEA with Xpd^D234N

(Stettler et al., 2015)

model of Cockayne syndrome

CEA with Xpd^G47R

(Stettler et al., 2015)

CEA with Xpd^G675R

(Stettler et al., 2015)

model of photosensitive trichothiodystrophy

CEA with Xpd^R112H

(Stettler et al., 2015)

CEA with Xpd^R722W

(Stettler et al., 2015)

Xpd^D234N

model of xeroderma pigmentosum

CEA with Xpd^SH2137

(Stettler et al., 2015)

Xpd^R601L

model of xeroderma pigmentosum

CEA with Xpd^SH2137

(Stettler et al., 2015)

Xpd^R683W

model of xeroderma pigmentosum

CEA with Xpd^SH2137

(Stettler et al., 2015)

Xpd^G47R

model of xeroderma pigmentosum

CEA with Xpd^SH2137

(Stettler et al., 2015)

model of Cockayne syndrome

CEA with Xpd^SH2137

(Stettler et al., 2015)

Xpd^G675R

model of xeroderma pigmentosum

CEA with Xpd^SH2137

(Stettler et al., 2015)

model of Cockayne syndrome

CEA with Xpd^SH2137

(Stettler et al., 2015)

Xpd^R112H

model of photosensitive trichothiodystrophy

CEA with Xpd^SH2137

(Stettler et al., 2015)

Xpd^R722W

model of photosensitive trichothiodystrophy

CEA with Xpd^SH2137

(Stettler et al., 2015)

Xpd^{RNAi.UAS.012.1}

model of adenoid cystic carcinoma

CEA with Hsap\MYB^ΔC.UAS, N^UAS.cMa, ft^{RNAi.UAS.012.1}, kug^{RNAi.UAS.012.1}

(Bangi et al., 2021)

Xpd^{RNAi.UAS.012.2}

model of adenoid cystic carcinoma

CEA with Hsap\MYB^ΔC.UAS, N^UAS.cMa, ft^{RNAi.UAS.012.2}, kug^{RNAi.UAS.012.2}

(Bangi et al., 2021)

Modifiers Based on Experimental Evidence ( 0 )

Allele

Disease

Interaction

References

Models Based on Experimental Evidence ( 13 )

Allele

Disease

Evidence

References

N^DN.UAS.cUa

model of cancer

CEA with Ras85D^V12.cUa.UAS

(Lee et al., 2021)

CEA

(Lee et al., 2021, Tamamouna et al., 2021)

CEA with Ras85D^V12.UAS

(Xu et al., 2023)

model of intestinal cancer

CEA

(Singh et al., 2016)

N^ICN.UAS

model of cancer

CEA

(Wang et al., 2021, Harsh and Eleftherianos, 2020)

CEA with Mef2^UAS.cUa

(Harsh and Eleftherianos, 2020)

model of carcinoma

CEA with Mef2^UAS.cUa

(Pallavi et al., 2012)

CEA with egr^UAS.cUa

(Pallavi et al., 2012)

model of brain cancer

CEA

(Wang et al., 2006)

N^UAS.cMa

model of adenoid cystic carcinoma

CEA with Hsap\MYB^ΔC.UAS, Xpd^{RNAi.UAS.012.1}, ft^{RNAi.UAS.012.1}, kug^{RNAi.UAS.012.1}

(Bangi et al., 2021)

CEA with Hsap\MYB^ΔC.UAS, Xpd^{RNAi.UAS.012.2}, ft^{RNAi.UAS.012.2}, kug^{RNAi.UAS.012.2}

(Bangi et al., 2021)

N^UAS.icd

model of central nervous system cancer

CEA

(Zacharioudaki et al., 2016)

N^RNAi.P.UAS

model of intestinal cancer

CEA

(Chen et al., 2021)

CEA with mys^GD15002

(Chen et al., 2021)

model of cancer

CEA with Ras85D^V12.UAS

(Tamamouna et al., 2021)

N^intra.GS.UAS

model of neurodegenerative disease

CEA

(Loewen et al., 2018)

N^{UAS.Tag:V5,Tag:polyHis}

model of brain cancer

CEA

(Ojha et al., 2022)

model of cancer

CEA

(Khaket et al., 2024)

N^GD144

model of alcohol use disorder

CEA

(Petruccelli et al., 2018)

N^GD14477

model of intestinal cancer

CEA

(Banreti et al., 2022)

model of colorectal cancer

CEA

(Zipper et al., 2022)

model of cancer

CEA

(Brás et al., 2021)

N^HD_CFD01184

model of intestinal cancer

CEC with Spyo\Cas9^UAS.uM.-FRT

(Bahuguna et al., 2021)

CEC with Spyo\Cas9^UAS.P2

(Bahuguna et al., 2021)

N^CA.UAS.cUa

model of central nervous system cancer

CEA

(Magadi et al., 2020, Zacharioudaki et al., 2016)

model of carcinoma

CEA with l(2)gl^GD4047

(Jevitt et al., 2021)

model of adenocarcinoma

CEA

(Casas-Tintó et al., 2016)

CEA with wupA^f06492

(Casas-Tintó et al., 2016)

model of cervical cancer

CEA with Hsap\UBE3A^UAS.cRa, HPV18\E6^UAS.Tag:MYC

(Padash Barmchi et al., 2016)

N^RNAi.UAS.cUa

model of intestinal cancer

CEA

(Ayyaz et al., 2015)

N^ΔE.UAS

model of central nervous system cancer

CEA

(Voutyraki et al., 2023, Voutyraki et al., 2022)

Modifiers Based on Experimental Evidence ( 22 )

Allele

Disease

Interaction

References

N^DN.UAS.cUa

model of cancer

is ameliorated by wg^JF01257

(Lee et al., 2021)

is ameliorated by Atg1^UAS.cSa

(Lee et al., 2021)

ameliorates carcinoma

modeled by Vps25^N55

(Herz et al., 2006)

modeled by ph-d⁵⁰⁵, ph-p⁵⁰⁵

(Beira et al., 2018)

ameliorates intestinal cancer

modeled by yki^{S111A.S168A.S250A.UAS.Tag:V5}

(Pranoto et al., 2023)

N^ECN.UAS

ameliorates cancer

modeled by Src64B^UAS.cCa

(Enomoto et al., 2021)

N^{FLN.ΔCdc10.UAS}

ameliorates C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis

modeled by Zzzz\poly-GR^{80.UAS.Tag:FLAG}

(Li et al., 2020)

N^ICN.UAS

model of cancer

is ameliorated by CycE^HMS00060

(Wang et al., 2021)

is ameliorated by Dref^JF02232

(Wang et al., 2021)

is ameliorated by RPA1^GL00350

(Wang et al., 2021)

is ameliorated by SMC5^HMC04343

(Wang et al., 2021)

is ameliorated by fzr^GD9960

(Wang et al., 2021)

is ameliorated by mei-41^GL00284

(Wang et al., 2021)

is ameliorated by mre11^HMC02995

(Wang et al., 2021)

is exacerbated by stg^UAS.Tag:HA

(Wang et al., 2021)

is ameliorated by stg^RNAi.UAS.cUa

(Wang et al., 2021)

exacerbates cancer

modeled by Src64B^UAS.cCa

(Enomoto et al., 2021)

modeled by Hipk^UAS.Tag:HA

(Blaquiere et al., 2018)

exacerbates carcinoma

modeled by scrib¹

(Brumby and Richardson, 2003)

N^UAS.icd

model of central nervous system cancer

is ameliorated by hth^C1

(Zacharioudaki et al., 2016)

is exacerbated by mira^HMS00347

(Zacharioudaki et al., 2016)

is ameliorated by svp¹

(Zacharioudaki et al., 2016)

is ameliorated by hth^B2

(Zacharioudaki et al., 2016)

N^RNAi.P.UAS

model of intestinal cancer

is exacerbated by Cat^HMS00990

(Chen et al., 2021)

is ameliorated by Cat^UAS.cUa

(Chen et al., 2021)

is exacerbated by Sod2^HMS00499

(Chen et al., 2021)

is ameliorated by Sod2^UAS.cMa

(Chen et al., 2021)

is exacerbated by cnc^HMS00650

(Chen et al., 2021)

is ameliorated by cnc^UAS.cSa

(Chen et al., 2021)

ameliorates carcinoma

modeled by Vps25^A3

(Vaccari and Bilder, 2005)

N^fa-swb

ameliorates Parkinson's disease 1

modeled by Hsap\SNCA^UAS.cJa

(Rousseaux et al., 2018)

N^intra.GS.UAS

ameliorates cancer

modeled by Pvr^{λ.UASp.Tag:MYC}

(Wang et al., 2023)

exacerbates carcinoma

modeled by Nkap^GD11807

(Guo et al., 2024)

N^l1N-ts1

ameliorates brain cancer

modeled by aurA⁸⁸³⁹

(Wang et al., 2006)

ameliorates frontotemporal dementia and/or amyotrophic lateral sclerosis 7

modeled by Hsap\CHMP2B^Intron5.UAS

(Wilson et al., 2020)

N^nd-1

ameliorates Schimke immuno-osseous dysplasia

modeled by Marcal1^UAS.cBa

(Morimoto et al., 2016)

N^nd-3

ameliorates Schimke immuno-osseous dysplasia

modeled by Marcal1^UAS.cBa

(Morimoto et al., 2016)

N^{UAS.Tag:V5,Tag:polyHis}

model of brain cancer

is ameliorated by ND-49^HM05059

(Ojha et al., 2022)

is ameliorated by Scer\NDI1^UAS.cBa

(Ojha et al., 2022)

ameliorates C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis

modeled by Zzzz\poly-GR^{80.UAS.Tag:FLAG}

(Li et al., 2020)

modeled by Zzzz\poly-GA^{80.UAS.Tag:FLAG}

(Li et al., 2020)

modeled by Zzzz\poly-PR^{80.UAS.Tag:FLAG}

(Li et al., 2020)

model of cancer

is ameliorated by pelo^{UAS.ORF.GW.Tag:HA}

(Khaket et al., 2024)

is ameliorated by pix^JF01190

(Khaket et al., 2024)

is ameliorated by pix^{UAS.ORF.Tag:HA}

(Khaket et al., 2024)

is ameliorated by CG11414^HMJ23120

(Khaket et al., 2024)

is ameliorated by Cnot4^JF03203

(Khaket et al., 2024)

is ameliorated by SARS-CoV-2\nsp1^UAS.cZa

(Khaket et al., 2024)

is ameliorated by TER94^JF03402

(Khaket et al., 2024)

is ameliorated by pelo^KK101657

(Khaket et al., 2024)

N^JF01637

ameliorates carcinoma

modeled by l(2)gl^GD4047

(Chatterjee et al., 2023)

modeled by Nkap^GD11807

(Guo et al., 2024)

N^GD14477

model of intestinal cancer

is exacerbated by Pcmt^GD8637

(Banreti et al., 2022)

is exacerbated by Pcmt^RNAi.UAS

(Banreti et al., 2022)

ameliorates cancer

modeled by Src64B^UAS.cCa

(Enomoto et al., 2021)

model of colorectal cancer

is ameliorated by mir-277^UAS.cSa

(Zipper et al., 2022)

ameliorates brain cancer

modeled by Vps35^E42

(Li et al., 2018)

exacerbates cancer

modeled by Mps1^GL00184

(Brás et al., 2021)

modeled by Mps1^HMS01546

(Brás et al., 2021)

modeled by mad2^GLC01381

(Brás et al., 2021)

model of cancer

is exacerbated by Mps1^GL00184

(Brás et al., 2021)

is exacerbated by Mps1^HMS01546

(Brás et al., 2021)

is exacerbated by mad2^GLC01381

(Brás et al., 2021)

N^NICD.UASp

exacerbates carcinoma

modeled by l(2)gl^GD4047

(Chatterjee et al., 2023)

N^{sfGFP,Tag:FLAG}

ameliorates Adams-Oliver syndrome

modeled by Su(H)^T4

(Gagliani et al., 2022)

N^JF02959

ameliorates rhabdoid cancer

modeled by Snr1^HMS00363, BacA\p35^UAS.cHa

(Xie et al., 2017)

N^RNAi.lexAop

ameliorates carcinoma

modeled by Egfr^UAS.cBa, psq^KK111691

(Boukhatmi et al., 2020)

N^UAS.cGa

ameliorates autism spectrum disorder

modeled by Nrx-IV⁴³⁰⁴

(Grice et al., 2015)

N^CA.UAS.cUa

model of central nervous system cancer

is ameliorated by zfh1^UAS.cPa

(Magadi et al., 2020)

is ameliorated by gcm^{UAS.ORF.GW.Tag:HA}

(Magadi et al., 2020)

exacerbates carcinoma

modeled by l(2)gl^GD4047

(Jevitt et al., 2021)

N^RNAi.UAS.cUa

model of intestinal cancer

is ameliorated by Smox^JF02320

(Ayyaz et al., 2015)

N^ΔE.UAS

model of central nervous system cancer

is exacerbated by InR^A1325D.UAS

(Voutyraki et al., 2023)

is ameliorated by InR^K1409A.UAS

(Voutyraki et al., 2023)

is ameliorated by Imp^HMS01168

(Voutyraki et al., 2023)

Models Based on Experimental Evidence ( 7 )

Allele

Disease

Evidence

References

ft⁸

model of neurodegenerative disease

CEA

(Napoletano et al., 2011)

ft^k07918

model of carcinoma

CEA

(Garoia et al., 2005)

ft^HMS00932

model of Van Maldergem syndrome 2

CEC

(Nakamura et al., 2017)

ft^KK101190

model of Van Maldergem syndrome 2

CEC

(Nakamura et al., 2017)

ft^{RNAi.UAS.012.1}

model of adenoid cystic carcinoma

CEA with Hsap\MYB^ΔC.UAS, N^UAS.cMa, Xpd^{RNAi.UAS.012.1}, kug^{RNAi.UAS.012.1}

(Bangi et al., 2021)

ft^{RNAi.UAS.012.2}

model of adenoid cystic carcinoma

CEA with Hsap\MYB^ΔC.UAS, N^UAS.cMa, Xpd^{RNAi.UAS.012.2}, kug^{RNAi.UAS.012.2}

(Bangi et al., 2021)

ft^RNAi.UAS.cUa

model of obesity

CEA

(Agrawal et al., 2021)

Modifiers Based on Experimental Evidence ( 3 )

Allele

Disease

Interaction

References

ft⁸

exacerbates dentatorubral-pallidoluysian atrophy

modeled by Gug^75QN.UAS

(Napoletano et al., 2011)

model of neurodegenerative disease

is ameliorated by yki^UAS.cHa

(Napoletano et al., 2011)

is ameliorated by dachs^GC13

(Napoletano et al., 2011)

is ameliorated by yki^B5

(Napoletano et al., 2011)

ft^G-rv

exacerbates dentatorubral-pallidoluysian atrophy

modeled by Gug^75QN.UAS

(Napoletano et al., 2011)

model of carcinoma

is exacerbated by Raf^UAS.F179

(Garoia et al., 2005)

is exacerbated by rho^UAS.cdCa

(Garoia et al., 2005)

ft^k07918

model of carcinoma

is exacerbated by Raf^UAS.F179

(Garoia et al., 2005)

is exacerbated by rho^UAS.cdCa

(Garoia et al., 2005)

kug

Models Based on Experimental Evidence ( 2 )

Allele

Disease

Evidence

References

kug^{RNAi.UAS.012.1}

model of adenoid cystic carcinoma

CEA with Hsap\MYB^ΔC.UAS, N^UAS.cMa, Xpd^{RNAi.UAS.012.1}, ft^{RNAi.UAS.012.1}

(Bangi et al., 2021)

kug^{RNAi.UAS.012.2}

model of adenoid cystic carcinoma

CEA with Hsap\MYB^ΔC.UAS, N^UAS.cMa, Xpd^{RNAi.UAS.012.2}, ft^{RNAi.UAS.012.2}

(Bangi et al., 2021)

Modifiers Based on Experimental Evidence ( 0 )

Allele

Disease

Interaction

References

Hsap\MYB

Models Based on Experimental Evidence ( 1 )

Allele

Disease

Evidence

References

Hsap\MYB^ΔC.UAS

model of adenoid cystic carcinoma

CEA with N^UAS.cMa, Xpd^{RNAi.UAS.012.1}, ft^{RNAi.UAS.012.1}, kug^{RNAi.UAS.012.1}

(Bangi et al., 2021)

CEA with N^UAS.cMa, Xpd^{RNAi.UAS.012.2}, ft^{RNAi.UAS.012.2}, kug^{RNAi.UAS.012.2}

(Bangi et al., 2021)

Modifiers Based on Experimental Evidence ( 0 )

Allele

Disease

Interaction

References

Alleles Representing Disease-Implicated Variants

Genetic Tools, Stocks and Reagents

Sources of Stocks

Contact lab of origin for a reagent not available from a public stock center.

Bloomington Stock Center Disease Page

Related mammalian, viral, bacterial, or synthetic transgenes

Allele

Transgene

Publicly Available Stocks

Hsap\MYB^ΔC.UAS

P{UAS-MYBDeltaC,UAS-3sh(Xpd,ft,kug).012.2}

Hsap\MYB^UAS.Tag:HA

PBac{UAS-hMYB.HA}

y¹ w^*; PBac{UAS-hMYB.HA}VK00037/SM6a

Selected Drosophila transgenes

Allele

Transgene

Publicly Available Stocks

N^HD_CFD01184

P{HD_CFD01184}

P{hsFLP}1, y¹ w¹¹¹⁸; P{HD_CFD01184}attP40/CyO-GFP

y¹ w^*; P{UAS-Delta.ΔE}B2a2

N^ECN.UAS

P{UAS-N.ECN}

P{hsFLP}12, y¹ w^*; P{UAS-N.ECN}2; MKRS/TM2

N^ICN.UAS

P{UAS-N.ICN}

N^{FLN.ΔCdc10.UAS}

P{UAS-N.FLNDeltaCdc10}

N^{UAS.Tag:V5,Tag:polyHis}

P{UAS-N.V5}

N^{sfGFP,Tag:FLAG}

PBac{N-GFP.FLAG}

y¹ w^*; PBac{N-GFP.FLAG}VK00033/TM6C, Sb¹

RNAi constructs available

Allele

Transgene

Publicly Available Stocks

N^RNAi.lexAop

P{lexAop-N.RNAi}

N^{RNAi.13xlexAop.cZa}

P{13xlexAop-N.RNAi.Z}

w^*; P{UAS-N.RNAi.P}9G

w¹¹¹⁸; P{GD14477}v27228/TM3

y¹ v¹; P{TRiP.JF02959}attP2

N^JF01637

P{TRiP.JF01637}

y¹ v¹; P{TRiP.JF01637}attP2

N^JF01043

P{TRiP.JF01043}

y¹ v¹; P{TRiP.JF01043}attP2

N^JF01053

P{TRiP.JF01053}

y¹ v¹; P{TRiP.JF01053}attP2

N^JF01356

P{TRiP.JF01356}

y¹ v¹; P{TRiP.JF01356}attP2

N^JF01693

P{TRiP.JF01693}

y¹ v¹; P{TRiP.JF01693}attP2

y¹ v¹; P{TRiP.HMS00001}attP2

N^HMS00009

P{TRiP.HMS00009}

y¹ v¹; P{TRiP.HMS00009}attP2

y¹ sc^* v¹ sev²¹; P{TRiP.GL00092}attP2

N^GLV21004

P{TRiP.GLV21004}

y¹ sc^* v¹ sev²¹; P{TRiP.GLV21004}attP2

P{UAS-MYBDeltaC,UAS-3sh(Xpd,ft,kug).012.1}

ft^{RNAi.UAS.012.2}

P{UAS-MYBDeltaC,UAS-3sh(Xpd,ft,kug).012.2}

y¹ v¹; P{TRiP.JF03245}attP2

ft^HMS00932

P{TRiP.HMS00932}

y¹ sc^* v¹ sev²¹; P{TRiP.HMS00932}attP2

kug^RNAi.UAS.cUa

P{UAS-kug.RNAi.U}

kug^{RNAi.UAS.012.1}

P{UAS-MYBDeltaC,UAS-3sh(Xpd,ft,kug).012.1}

kug^{RNAi.UAS.012.2}

P{UAS-MYBDeltaC,UAS-3sh(Xpd,ft,kug).012.2}

w¹¹¹⁸; P{GD2656}v5098

kug^GD14442

P{GD14442}

w¹¹¹⁸; P{GD14442}v27113

y¹ v¹; P{TRiP.HMS02136}attP40

Xpd^{RNAi.UAS.012.1}

P{UAS-MYBDeltaC,UAS-3sh(Xpd,ft,kug).012.1}

Xpd^{RNAi.UAS.012.2}

P{UAS-MYBDeltaC,UAS-3sh(Xpd,ft,kug).012.2}

Xpd^GD4206

P{GD4206}

w¹¹¹⁸ P{GD4206}v41021

y¹ v¹; P{TRiP.HMJ21396}attP40/CyO

Xpd^HMC06145

P{TRiP.HMC06145}

y¹ sc^* v¹ sev²¹; P{TRiP.HMC06145}attP40

Selected Drosophila classical alleles

Allele

Allele class

Mutagen

Publicly Available Stocks

N^ETX52

amorphic allele - genetic evidence

Delta2-3 transposase

N^55e11

loss of function allele

spontaneous

N^55e11 P{neoFRT}19A/FM7c

N^fa-g

loss of function allele

spontaneous

w^a N^fa-g; Rho1^E3.10/CyO

N^264-40

amorphic allele - genetic evidence

X ray

w^a N^264-40 rb¹/C(1)DX, y¹ f¹; Dp(1;2)72c21/+

N^FE1

loss of function allele

X ray

N^l1N-ts1

ethyl methanesulfonate

y¹ N^l1N-ts1 g² f¹/C(1)DX, y¹ w¹ f¹

N^S-317

loss of function allele

ethyl methanesulfonate

N^l1N-2

amorphic allele - genetic evidence

gamma ray

N^FX9

loss of function allele

X ray

N^FE2

loss of function allele

X ray

N^FX8

loss of function allele

X ray

N¹

loss of function allele

y¹ w^* N¹/FM7c, P{GAL4-twi.G}108.4, P{UAS-2xEGFP}AX

N^FX4

loss of function allele

X ray

N^eU10

loss of function allele

ethyl methanesulfonate

N^eAS7b

loss of function allele

ethyl methanesulfonate

N^60g11

amorphic allele - genetic evidence

X ray

N^FX2

loss of function allele

X ray

N^XL86

loss of function allele

ethyl methanesulfonate

N²

loss of function allele

N^FX5

loss of function allele

X ray

N^FX7

loss of function allele

X ray

N^Yi66

loss of function allele

ethyl methanesulfonate

N^264-47

loss of function allele

X ray

N^264-39

loss of function allele

X ray

w^ch2 N^264-39/FM4, Bar⁺

N^X81K1

loss of function allele

N^fa-swb

X ray

w^a N^fa-swb

N³

loss of function allele

N^3b22

loss of function allele

ethyl methanesulfonate

N^FX6

loss of function allele

X ray

N^XK11

amorphic allele - genetic evidence

N^nd-1

loss of function allele

spontaneous

N^nd-1 rb¹

N^M1

loss of function allele

ethyl methanesulfonate

N^FX3

loss of function allele

X ray

N^FX1

loss of function allele

X ray

N^X114

loss of function allele

ethyl methanesulfonate

N^66l2

amorphic allele - genetic evidence

N^nd-3

X ray

N^nd-3 rb¹/C(1)DX, y¹ f¹

ft^C4938S

loss of function allele

CRISPR/Cas9

ft^C4987S

loss of function allele

CRISPR/Cas9

ft^2CS

loss of function allele

CRISPR/Cas9

ft^G-rv

loss of function allele

spontaneous

ft^G-rv/SM5

ft^k07918

P-element activity

y^d2 w¹¹¹⁸ P{ey-FLP.N}2 P{5xglBS-lacZ.38-1}TPN1; P{lacW}Glyp^k07918 ft^k07918 P{neoFRT}40A/CyO y⁺

ft⁸

loss of function allele

PM hybrid dysgenesis

y¹ w^*; ft⁸ dpy^ovN or¹/In(2L)Cy, In(2R)Cy, amos^Roi-1 cn² bw¹ or¹ speck²

kug^KO

loss of function allele

ends-out gene targeting

Xpd^SH2137

P-element activity

w^*; P{lacW}Xpd^SH2137/CyO

References (8)

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