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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: 14389

FusionGeneSummary for GAS2_SOX6

check button Fusion gene summary
Fusion gene informationFusion gene name: GAS2_SOX6
Fusion gene ID: 14389
HgeneTgene
Gene symbol

GAS2

SOX6

Gene ID

2620

55553

Gene namegrowth arrest specific 2SRY-box 6
SynonymsGAS-2HSSOX6|SOXD
Cytomap

11p14.3

11p15.2

Type of geneprotein-codingprotein-coding
Descriptiongrowth arrest-specific protein 2transcription factor SOX-6SRY (sex determining region Y)-box 6SRY-box containing gene 6
Modification date2018051920180523
UniProtAcc

O43903

P35712

Ensembl transtripts involved in fusion geneENST00000454584, ENST00000278187, 
ENST00000433790, ENST00000533092, 
ENST00000316399, ENST00000396356, 
ENST00000352083, ENST00000528252, 
ENST00000527619, ENST00000528429, 
ENST00000533658, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 3 X 3=27
# samples 14
** MAII scorelog2(1/1*10)=3.32192809488736log2(4/27*10)=0.567040592723894
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: GAS2 [Title/Abstract] AND SOX6 [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
TgeneSOX6

GO:0032332

positive regulation of chondrocyte differentiation

21401405

TgeneSOX6

GO:0061036

positive regulation of cartilage development

21401405

TgeneSOX6

GO:0071560

cellular response to transforming growth factor beta stimulus

21401405

TgeneSOX6

GO:2000741

positive regulation of mesenchymal stem cell differentiation

21401405


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
TCGARVKICHTCGA-KL-8339-01AGAS2chr11

22696560

+SOX6chr11

16362798

-
* 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
5CDS-5UTRENST00000454584ENST00000316399GAS2chr11

22696560

+SOX6chr11

16362798

-
5CDS-5UTRENST00000454584ENST00000396356GAS2chr11

22696560

+SOX6chr11

16362798

-
5CDS-5UTRENST00000454584ENST00000352083GAS2chr11

22696560

+SOX6chr11

16362798

-
5CDS-5UTRENST00000454584ENST00000528252GAS2chr11

22696560

+SOX6chr11

16362798

-
5CDS-5UTRENST00000454584ENST00000527619GAS2chr11

22696560

+SOX6chr11

16362798

-
5CDS-5UTRENST00000454584ENST00000528429GAS2chr11

22696560

+SOX6chr11

16362798

-
5CDS-5UTRENST00000454584ENST00000533658GAS2chr11

22696560

+SOX6chr11

16362798

-
5CDS-5UTRENST00000278187ENST00000316399GAS2chr11

22696560

+SOX6chr11

16362798

-
5CDS-5UTRENST00000278187ENST00000396356GAS2chr11

22696560

+SOX6chr11

16362798

-
5CDS-5UTRENST00000278187ENST00000352083GAS2chr11

22696560

+SOX6chr11

16362798

-
5CDS-5UTRENST00000278187ENST00000528252GAS2chr11

22696560

+SOX6chr11

16362798

-
5CDS-5UTRENST00000278187ENST00000527619GAS2chr11

22696560

+SOX6chr11

16362798

-
5CDS-5UTRENST00000278187ENST00000528429GAS2chr11

22696560

+SOX6chr11

16362798

-
5CDS-5UTRENST00000278187ENST00000533658GAS2chr11

22696560

+SOX6chr11

16362798

-
5CDS-5UTRENST00000433790ENST00000316399GAS2chr11

22696560

+SOX6chr11

16362798

-
5CDS-5UTRENST00000433790ENST00000396356GAS2chr11

22696560

+SOX6chr11

16362798

-
5CDS-5UTRENST00000433790ENST00000352083GAS2chr11

22696560

+SOX6chr11

16362798

-
5CDS-5UTRENST00000433790ENST00000528252GAS2chr11

22696560

+SOX6chr11

16362798

-
5CDS-5UTRENST00000433790ENST00000527619GAS2chr11

22696560

+SOX6chr11

16362798

-
5CDS-5UTRENST00000433790ENST00000528429GAS2chr11

22696560

+SOX6chr11

16362798

-
5CDS-5UTRENST00000433790ENST00000533658GAS2chr11

22696560

+SOX6chr11

16362798

-
3UTR-5UTRENST00000533092ENST00000316399GAS2chr11

22696560

+SOX6chr11

16362798

-
3UTR-5UTRENST00000533092ENST00000396356GAS2chr11

22696560

+SOX6chr11

16362798

-
3UTR-5UTRENST00000533092ENST00000352083GAS2chr11

22696560

+SOX6chr11

16362798

-
3UTR-5UTRENST00000533092ENST00000528252GAS2chr11

22696560

+SOX6chr11

16362798

-
3UTR-5UTRENST00000533092ENST00000527619GAS2chr11

22696560

+SOX6chr11

16362798

-
3UTR-5UTRENST00000533092ENST00000528429GAS2chr11

22696560

+SOX6chr11

16362798

-
3UTR-5UTRENST00000533092ENST00000533658GAS2chr11

22696560

+SOX6chr11

16362798

-

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FusionProtFeatures for GAS2_SOX6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GAS2

O43903

SOX6

P35712

May play a role in apoptosis by acting as a cell deathsubstrate for caspases. Is cleaved during apoptosis and thecleaved form induces dramatic rearrangements of the actincytoskeleton and potent changes in the shape of the affectedcells. May be involved in the membrane ruffling process (Bysimilarity). {ECO:0000250}. Transcriptional activator. Binds specifically to the DNAsequence 5'-AACAAT-3'. Plays a key role in several developmentalprocesses, including neurogenesis and skeleton formation.

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 GAS2_SOX6


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 GAS2_SOX6


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
GAS2CAPN1, APPSOX6CENPK, CTBP2, CTNNB1, HDAC1, SOX2, TRIP12, POMGNT1, ZNF184, TAF4, UBE2I, SOX5


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 GAS2_SOX6


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 GAS2_SOX6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGAS2C0010606Adenoid Cystic Carcinoma1CTD_human
HgeneGAS2C0036095Salivary Gland Neoplasms1CTD_human
TgeneSOX6C0036341Schizophrenia1PSYGENET