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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: 18730

FusionGeneSummary for KIAA1551_SOX5

check button Fusion gene summary
Fusion gene informationFusion gene name: KIAA1551_SOX5
Fusion gene ID: 18730
HgeneTgene
Gene symbol

KIAA1551

SOX5

Gene ID

55196

6660

Gene nameKIAA1551SRY-box 5
SynonymsC12orf35|GET|UTA2-1L-SOX5|L-SOX5B|L-SOX5F|LAMSHF
Cytomap

12p11.21

12p12.1

Type of geneprotein-codingprotein-coding
Descriptionuncharacterized protein KIAA1551gonad expressed transcriptuncharacterized protein C12orf35transcription factor SOX-5SRY (sex determining region Y)-box 5
Modification date2018052320180523
UniProtAcc

Q9HCM1

P35711

Ensembl transtripts involved in fusion geneENST00000312561, ENST00000535596, 
ENST00000546136, ENST00000381381, 
ENST00000309359, ENST00000451604, 
ENST00000537393, ENST00000541536, 
ENST00000396007, ENST00000545921, 
ENST00000541847, ENST00000441133, 
ENST00000536850, 
Fusion gene scores* DoF score5 X 3 X 5=757 X 7 X 5=245
# samples 59
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/245*10)=-1.4447848426729
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KIAA1551 [Title/Abstract] AND SOX5 [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
TgeneSOX5

GO:0032332

positive regulation of chondrocyte differentiation

21401405

TgeneSOX5

GO:0061036

positive regulation of cartilage development

21401405

TgeneSOX5

GO:0071560

cellular response to transforming growth factor beta stimulus

21401405

TgeneSOX5

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
TCGALDKIRCTCGA-B0-4688-01AKIAA1551chr12

32123290

+SOX5chr12

23908658

-
* 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
5UTR-3CDSENST00000312561ENST00000546136KIAA1551chr12

32123290

+SOX5chr12

23908658

-
5UTR-3CDSENST00000312561ENST00000381381KIAA1551chr12

32123290

+SOX5chr12

23908658

-
5UTR-3CDSENST00000312561ENST00000309359KIAA1551chr12

32123290

+SOX5chr12

23908658

-
5UTR-3CDSENST00000312561ENST00000451604KIAA1551chr12

32123290

+SOX5chr12

23908658

-
5UTR-3CDSENST00000312561ENST00000537393KIAA1551chr12

32123290

+SOX5chr12

23908658

-
5UTR-3CDSENST00000312561ENST00000541536KIAA1551chr12

32123290

+SOX5chr12

23908658

-
5UTR-intronENST00000312561ENST00000396007KIAA1551chr12

32123290

+SOX5chr12

23908658

-
5UTR-intronENST00000312561ENST00000545921KIAA1551chr12

32123290

+SOX5chr12

23908658

-
5UTR-intronENST00000312561ENST00000541847KIAA1551chr12

32123290

+SOX5chr12

23908658

-
5UTR-intronENST00000312561ENST00000441133KIAA1551chr12

32123290

+SOX5chr12

23908658

-
5UTR-intronENST00000312561ENST00000536850KIAA1551chr12

32123290

+SOX5chr12

23908658

-
3UTR-3CDSENST00000535596ENST00000546136KIAA1551chr12

32123290

+SOX5chr12

23908658

-
3UTR-3CDSENST00000535596ENST00000381381KIAA1551chr12

32123290

+SOX5chr12

23908658

-
3UTR-3CDSENST00000535596ENST00000309359KIAA1551chr12

32123290

+SOX5chr12

23908658

-
3UTR-3CDSENST00000535596ENST00000451604KIAA1551chr12

32123290

+SOX5chr12

23908658

-
3UTR-3CDSENST00000535596ENST00000537393KIAA1551chr12

32123290

+SOX5chr12

23908658

-
3UTR-3CDSENST00000535596ENST00000541536KIAA1551chr12

32123290

+SOX5chr12

23908658

-
3UTR-intronENST00000535596ENST00000396007KIAA1551chr12

32123290

+SOX5chr12

23908658

-
3UTR-intronENST00000535596ENST00000545921KIAA1551chr12

32123290

+SOX5chr12

23908658

-
3UTR-intronENST00000535596ENST00000541847KIAA1551chr12

32123290

+SOX5chr12

23908658

-
3UTR-intronENST00000535596ENST00000441133KIAA1551chr12

32123290

+SOX5chr12

23908658

-
3UTR-intronENST00000535596ENST00000536850KIAA1551chr12

32123290

+SOX5chr12

23908658

-

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FusionProtFeatures for KIAA1551_SOX5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KIAA1551

Q9HCM1

SOX5

P35711


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 KIAA1551_SOX5


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 KIAA1551_SOX5


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
KIAA1551EXOC1, NANOG, MDM2SOX5SOX2, APP, CDK6, SMAD7, SMAD1, SMAD5, FTH1, CDC25A, RPS2, TTC1, UQCRFS1, MED27, TAF6, AES, CRX, KIFC3, LMO1, LMO2, SOX5, CDC23, KAT5, ARID5A, ZNF581, CBX8, FAM46B, PRR20A, MORN3, SUMO1P1, CEP85, SOX6, SOX13, SOX1, ANKRD40, SOX11


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 KIAA1551_SOX5


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 KIAA1551_SOX5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSOX5C0004238Atrial Fibrillation1CTD_human
TgeneSOX5C0036341Schizophrenia1PSYGENET
TgeneSOX5C1510586Autism Spectrum Disorders1CTD_human