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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 3622

FusionGeneSummary for AUTS2_CFTR

check button Fusion gene summary
Fusion gene informationFusion gene name: AUTS2_CFTR
Fusion gene ID: 3622
HgeneTgene
Gene symbol

AUTS2

CFTR

Gene ID

26053

1080

Gene nameAUTS2, activator of transcription and developmental regulatorcystic fibrosis transmembrane conductance regulator
SynonymsFBRSL2|MRD26ABC35|ABCC7|CF|CFTR/MRP|MRP7|TNR-CFTR|dJ760C5.1
Cytomap

7q11.22

7q31.2

Type of geneprotein-codingprotein-coding
Descriptionautism susceptibility gene 2 proteinautism susceptibility candidate 2autism-related protein 1cystic fibrosis transmembrane conductance regulatorcAMP-dependent chloride channelchannel conductance-controlling ATPasecystic fibrosis transmembrane conductance regulatingcystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-f
Modification date2018051920180527
UniProtAcc

Q8WXX7

P13569

Ensembl transtripts involved in fusion geneENST00000406775, ENST00000342771, 
ENST00000403018, ENST00000489774, 
ENST00000003084, ENST00000454343, 
ENST00000608965, 
Fusion gene scores* DoF score19 X 15 X 7=19959 X 7 X 8=504
# samples 198
** MAII scorelog2(19/1995*10)=-3.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/504*10)=-2.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AUTS2 [Title/Abstract] AND CFTR [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneAUTS2

GO:0045944

positive regulation of transcription by RNA polymerase II

25519132

HgeneAUTS2

GO:0051571

positive regulation of histone H3-K4 methylation

25519132

HgeneAUTS2

GO:2000620

positive regulation of histone H4-K16 acetylation

25519132

TgeneCFTR

GO:0015701

bicarbonate transport

15010471|19019741

TgeneCFTR

GO:1902476

chloride transmembrane transport

11524016|11707463|19019741

TgeneCFTR

GO:1902943

positive regulation of voltage-gated chloride channel activity

22006324

TgeneCFTR

GO:1904322

cellular response to forskolin

15010471|19621064


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDLUADTCGA-86-8673-01AAUTS2chr7

70163606

+CFTRchr7

117144307

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shitENST00000406775ENST00000003084AUTS2chr7

70163606

+CFTRchr7

117144307

+
Frame-shitENST00000406775ENST00000454343AUTS2chr7

70163606

+CFTRchr7

117144307

+
5CDS-intronENST00000406775ENST00000608965AUTS2chr7

70163606

+CFTRchr7

117144307

+
Frame-shitENST00000342771ENST00000003084AUTS2chr7

70163606

+CFTRchr7

117144307

+
Frame-shitENST00000342771ENST00000454343AUTS2chr7

70163606

+CFTRchr7

117144307

+
5CDS-intronENST00000342771ENST00000608965AUTS2chr7

70163606

+CFTRchr7

117144307

+
intron-3CDSENST00000403018ENST00000003084AUTS2chr7

70163606

+CFTRchr7

117144307

+
intron-3CDSENST00000403018ENST00000454343AUTS2chr7

70163606

+CFTRchr7

117144307

+
intron-intronENST00000403018ENST00000608965AUTS2chr7

70163606

+CFTRchr7

117144307

+
3UTR-3CDSENST00000489774ENST00000003084AUTS2chr7

70163606

+CFTRchr7

117144307

+
3UTR-3CDSENST00000489774ENST00000454343AUTS2chr7

70163606

+CFTRchr7

117144307

+
3UTR-intronENST00000489774ENST00000608965AUTS2chr7

70163606

+CFTRchr7

117144307

+

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FusionProtFeatures for AUTS2_CFTR


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AUTS2

Q8WXX7

CFTR

P13569

Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain thetranscriptionally repressive state of many genes, including Hoxgenes, throughout development. PcG PRC1 complex acts via chromatinremodeling and modification of histones; it mediatesmonoubiquitination of histone H2A 'Lys-119', rendering chromatinheritably changed in its expressibility (PubMed:25519132). ThePRC1-like complex that contains PCGF5, RNF2, CSNK2B, RYBP andAUTS2 has decreased histone H2A ubiquitination activity, due tothe phosphorylation of RNF2 by CSNK2B (PubMed:25519132). As aconsequence, the complex mediates transcriptional activation(PubMed:25519132). In the cytoplasm, plays a role in axon anddendrite elongation and in neuronal migration during embryonicbrain development. Promotes reorganization of the actincytoskeleton, lamellipodia formation and neurite elongation viaits interaction with RAC guanine nucleotide exchange factors,which then leads to the activation of RAC1 (By similarity).{ECO:0000250|UniProtKB:A0A087WPF7, ECO:0000269|PubMed:25519132}. Epithelial ion channel that plays an important role inthe regulation of epithelial ion and water transport and fluidhomeostasis (PubMed:26823428). Mediates the transport of chlorideions across the cell membrane (PubMed:10792060, PubMed:11524016,PubMed:11707463, PubMed:12519745, PubMed:15010471,PubMed:12588899, PubMed:17036051, PubMed:19398555,PubMed:19621064, PubMed:22178883, PubMed:25330774, PubMed:1712898,PubMed:8910473, PubMed:9804160, PubMed:12529365, PubMed:17182731,PubMed:26846474, PubMed:28087700). Channel activity is coupled toATP hydrolysis (PubMed:8910473). The ion channel is also permeableto HCO(3-); selectivity depends on the extracellular chlorideconcentration (PubMed:15010471, PubMed:19019741). Exerts itsfunction also by modulating the activity of other ion channels andtransporters (PubMed:12403779, PubMed:22178883, PubMed:22121115,PubMed:27941075). Plays an important role in airway fluidhomeostasis (PubMed:16645176, PubMed:19621064, PubMed:26823428).Contributes to the regulation of the pH and the ion content of theairway surface fluid layer and thereby plays an important role indefense against pathogens (PubMed:14668433, PubMed:16645176,PubMed:26823428). Modulates the activity of the epithelial sodiumchannel (ENaC) complex, in part by regulating the cell surfaceexpression of the ENaC complex (PubMed:17434346, PubMed:27941075,PubMed:17182731). Inhibits the activity of the ENaC channelcontaining subunits SCNN1A, SCNN1B and SCNN1G (PubMed:17182731).Inhibits the activity of the ENaC channel containing subunitsSCNN1D, SCNN1B and SCNN1G, but not of the ENaC channel containingsubunits SCNN1A, SCNN1B and SCNN1G (PubMed:27941075). May regulatebicarbonate secretion and salvage in epithelial cells byregulating the transporter SLC4A7 (PubMed:12403779). Can inhibitthe chloride channel activity of ANO1 (PubMed:22178883). Plays arole in the chloride and bicarbonate homeostasis during spermepididymal maturation and capacitation (PubMed:19923167,PubMed:27714810). {ECO:0000269|PubMed:10792060,ECO:0000269|PubMed:11524016, ECO:0000269|PubMed:11707463,ECO:0000269|PubMed:12403779, ECO:0000269|PubMed:12519745,ECO:0000269|PubMed:12529365, ECO:0000269|PubMed:12588899,ECO:0000269|PubMed:14668433, ECO:0000269|PubMed:15010471,ECO:0000269|PubMed:16645176, ECO:0000269|PubMed:17036051,ECO:0000269|PubMed:1712898, ECO:0000269|PubMed:17182731,ECO:0000269|PubMed:19019741, ECO:0000269|PubMed:19398555,ECO:0000269|PubMed:19621064, ECO:0000269|PubMed:22178883,ECO:0000269|PubMed:25330774, ECO:0000269|PubMed:26627831,ECO:0000269|PubMed:26823428, ECO:0000269|PubMed:26846474,ECO:0000269|PubMed:27714810, ECO:0000269|PubMed:27941075,ECO:0000269|PubMed:28087700, ECO:0000269|PubMed:8910473,ECO:0000269|PubMed:9804160, ECO:0000305|PubMed:19923167}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for AUTS2_CFTR


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for AUTS2_CFTR


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
AUTS2PCGF3, PCGF5, RNF2, CSNK2A2, RYBP, RING1, YAF2, CSNK2A1, CSNK2B, DCAF7, FBRS, EP300, RERE, RBM14, ZNF608, ZNF609, TLE3, WDR5, PCGF6, ATN1CFTRGOPC, KCNJ1, PDZD3, SLC9A3R1, STX1A, HSPA8, DNAJB1, DNAJA1, PRKCE, SNAP23, PRKAA1, PDZK1, CLCN3, SLC9A3R2, EZR, CFTR, DNAJC5, AMFR, VCP, STUB1, HDAC6, HSP90AA1, USP10, COMMD1, CBL, NEDD4, JKAMP, RNF5, UBE3A, PSMA3, RAB5A, RAB11A, HSPA4, PRKACA, DERL1, AHSA1, BCAP31, NHS, CANX, BAG1, HSPB1, HSPB2, USP19, KPNB1, IPO7, CFL1, DNAJA2, PPP2CA, CSE1L, PPP2R2A, RCN1, GNB2L1, RCN2, SEPT11, RANBP1, XPO1, PPP2R1B, ATP2A2, CCT3, SEC61A1, BAG2, TNPO3, HSPA1A, NRIP3, RHOT1, HSPA2, CALU, CCT4, NPEPPS, RAN, FARSA, P4HA1, KIF5C, HSPA6, SNX4, B3GNT9, IPO11, KIF5B, KIF3A, DTL, APC, VIPR1, USP9X, PKD1, CSTB, TCEB2, S100A9, HSP90AB1, PSME2, LGALS3, S100A7, TFG, THEM6, SQRDL, HSPD1, HSPA1L, PPP2R1A, SPTLC1, AIFM1, PSMD2, TMEM43, BCR, RYR2, TCEB1, PCMT1, PDCD6, EMD, SEC61A2, SFXN3, LGALS4, FAM120A, COPB1, LMO7, VPS4A, ATXN2L, TRIP12, PRKDC, CD59, SH3BGRL2, MARCKSL1, LIN7C, HAX1, CLINT1, MS4A5, GNA11, CLTA, EPCAM, ATAD3A, LRRFIP2, EPS8, GNAI2, CLTCL1, GRN, PSAP, CDH1, REPS1, PLEKHA6, XPNPEP3, DAB2, FLOT2, SNX9, IL1RAPL1, CEP170, RYK, TJP3, MUC13, ADCY8, CLCA1, TIAM1, SVIL, SORL1, ERLIN2, PSMB3, SIGMAR1, PSMB1, ERLIN1, CCDC51, PSMB4, PTGES3, PPIB, PSMC4, SARAF, EMC2, IPO9, CAND1, IPO5, PPP2R2B, SEPT6, PTPLAD1, ESYT1, PSMD11, ERBB2IP, DCLK1, SEPT9, ATP2A1, A2M, PCDHB8, AKAP6, MED12, RYR3, MARCH2, ABCC4, HSPH1, UBE2I, SQSTM1, EEA1, SLC4A7, TFAP2A, MYO6, RNF185, JAK1


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for AUTS2_CFTR


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCFTRP13569DB00887BumetanideCystic fibrosis transmembrane conductance regulatorsmall moleculeapproved
TgeneCFTRP13569DB01016GlyburideCystic fibrosis transmembrane conductance regulatorsmall moleculeapproved
TgeneCFTRP13569DB01050IbuprofenCystic fibrosis transmembrane conductance regulatorsmall moleculeapproved
TgeneCFTRP13569DB08820IvacaftorCystic fibrosis transmembrane conductance regulatorsmall moleculeapproved
TgeneCFTRP13569DB09280LumacaftorCystic fibrosis transmembrane conductance regulatorsmall moleculeapproved
TgeneCFTRP13569DB09213DexibuprofenCystic fibrosis transmembrane conductance regulatorsmall moleculeapproved|investigational

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RelatedDiseases for AUTS2_CFTR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAUTS2C0036341Schizophrenia2PSYGENET
HgeneAUTS2C0014544Epilepsy1CTD_human
TgeneCFTRC0010674Cystic Fibrosis52CTD_human;ORPHANET;UNIPROT
TgeneCFTRC0403814Congenital bilateral aplasia of vas deferens6CTD_human;ORPHANET;UNIPROT
TgeneCFTRC0021364Male infertility2CTD_human;HPO
TgeneCFTRC0030305Pancreatitis2CTD_human
TgeneCFTRC0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneCFTRC0004509Azoospermia1CTD_human;HPO
TgeneCFTRC0008340Choledochal Cyst1CTD_human
TgeneCFTRC0009404Colorectal Neoplasms1CTD_human
TgeneCFTRC0019284Diaphragmatic Hernia1CTD_human
TgeneCFTRC0035455Rhinitis1CTD_human
TgeneCFTRC0037199Sinusitis1CTD_human
TgeneCFTRC0085548Autosomal Recessive Polycystic Kidney Disease1CTD_human
TgeneCFTRC0149521Pancreatitis, Chronic1CTD_human
TgeneCFTRC0236969Substance-Related Disorders1CTD_human