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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: 35440

FusionGeneSummary for SOX13_PSD2

check button Fusion gene summary
Fusion gene informationFusion gene name: SOX13_PSD2
Fusion gene ID: 35440
HgeneTgene
Gene symbol

SOX13

PSD2

Gene ID

9580

84249

Gene nameSRY-box 13pleckstrin and Sec7 domain containing 2
SynonymsICA12|Sox-13EFA6C
Cytomap

1q32.1

5q31.2

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor SOX-13SRY (sex determining region Y)-box 13SRY-related HMG-box gene 13islet cell antibody 12islet cell antigen 12type 1 diabetes autoantigen ICA12PH and SEC7 domain-containing protein 2exchange factor for ADP-ribosylation factor guanine nucleotide factor 6 Cexchange factor for ARF6 Cpleckstrin homology and SEC7 domain-containing protein 2
Modification date2018052320180519
UniProtAcc

Q9UN79

Q9BQI7

Ensembl transtripts involved in fusion geneENST00000367203, ENST00000367204, 
ENST00000274710, 
Fusion gene scores* DoF score4 X 3 X 3=364 X 4 X 4=64
# samples 44
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SOX13 [Title/Abstract] AND PSD2 [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

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
TCGALDLIHCTCGA-ZP-A9D0-01ASOX13chr1

204042839

+PSD2chr5

139188976

+
* 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
3UTR-5UTRENST00000367203ENST00000274710SOX13chr1

204042839

+PSD2chr5

139188976

+
5UTR-5UTRENST00000367204ENST00000274710SOX13chr1

204042839

+PSD2chr5

139188976

+

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FusionProtFeatures for SOX13_PSD2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SOX13

Q9UN79

PSD2

Q9BQI7

Binds to the sequence 5'-AACAAT-3'. {ECO:0000250}.

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 SOX13_PSD2


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 SOX13_PSD2


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
SOX13SOX13, SMAD7, CTBP2, YTHDC1, CLEC12A, CEP85, XPO1, SOX5, TRIM25PSD2PMS2, PMS1


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 SOX13_PSD2


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 SOX13_PSD2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePSD2C0032927Precancerous Conditions1CTD_human