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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: 17743

FusionGeneSummary for IRS1_C12orf40

check button Fusion gene summary
Fusion gene informationFusion gene name: IRS1_C12orf40
Fusion gene ID: 17743
HgeneTgene
Gene symbol

IRS1

C12orf40

Gene ID

3667

283461

Gene nameinsulin receptor substrate 1chromosome 12 open reading frame 40
SynonymsHIRS-1HEL-206|HEL-S-94
Cytomap

2q36.3

12q12

Type of geneprotein-codingprotein-coding
Descriptioninsulin receptor substrate 1IRS-1uncharacterized protein C12orf40epididymis luminal protein 206epididymis secretory protein Li 94
Modification date2018052320180519
UniProtAcc

P35568

Q86WS4

Ensembl transtripts involved in fusion geneENST00000305123, ENST00000498335, 
ENST00000324616, ENST00000405531, 
ENST00000398716, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 2 X 3=18
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: IRS1 [Title/Abstract] AND C12orf40 [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
HgeneIRS1

GO:0008286

insulin receptor signaling pathway

16516141

HgeneIRS1

GO:0014065

phosphatidylinositol 3-kinase signaling

7782332

HgeneIRS1

GO:0032868

response to insulin

16516141

HgeneIRS1

GO:0046676

negative regulation of insulin secretion

15572028

HgeneIRS1

GO:2001275

positive regulation of glucose import in response to insulin stimulus

7493946


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
ChiTaRS3.1AA136914IRS1chr2

227600969

+C12orf40chr12

40099503

-
* 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
intron-intronENST00000305123ENST00000324616IRS1chr2

227600969

+C12orf40chr12

40099503

-
intron-intronENST00000305123ENST00000405531IRS1chr2

227600969

+C12orf40chr12

40099503

-
intron-intronENST00000305123ENST00000398716IRS1chr2

227600969

+C12orf40chr12

40099503

-
intron-intronENST00000498335ENST00000324616IRS1chr2

227600969

+C12orf40chr12

40099503

-
intron-intronENST00000498335ENST00000405531IRS1chr2

227600969

+C12orf40chr12

40099503

-
intron-intronENST00000498335ENST00000398716IRS1chr2

227600969

+C12orf40chr12

40099503

-

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FusionProtFeatures for IRS1_C12orf40


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
IRS1

P35568

C12orf40

Q86WS4

May mediate the control of various cellular processes byinsulin. When phosphorylated by the insulin receptor bindsspecifically to various cellular proteins containing SH2 domainssuch as phosphatidylinositol 3-kinase p85 subunit or GRB2.Activates phosphatidylinositol 3-kinase when bound to theregulatory p85 subunit (By similarity). {ECO:0000250,ECO:0000269|PubMed:16878150}.

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 IRS1_C12orf40


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 IRS1_C12orf40


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


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 IRS1_C12orf40


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for IRS1_C12orf40


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIRS1C0011860Diabetes Mellitus, Non-Insulin-Dependent7CTD_human;UNIPROT
HgeneIRS1C2239176Liver carcinoma2CTD_human
HgeneIRS1C0007621Neoplastic Cell Transformation1CTD_human
HgeneIRS1C0011849Diabetes Mellitus1CTD_human
HgeneIRS1C0011853Diabetes Mellitus, Experimental1CTD_human
HgeneIRS1C0020459Hyperinsulinism1CTD_human
HgeneIRS1C0020473Hyperlipidemia1CTD_human
HgeneIRS1C0021655Insulin Resistance1CTD_human
HgeneIRS1C0028754Obesity1CTD_human
HgeneIRS1C0032927Precancerous Conditions1CTD_human
HgeneIRS1C0033578Prostatic Neoplasms1CTD_human
HgeneIRS1C1956346Coronary Artery Disease1CTD_human