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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: 35446

FusionGeneSummary for SOX4_C2CD3

check button Fusion gene summary
Fusion gene informationFusion gene name: SOX4_C2CD3
Fusion gene ID: 35446
HgeneTgene
Gene symbol

SOX4

C2CD3

Gene ID

6659

26005

Gene nameSRY-box 4C2 calcium dependent domain containing 3
SynonymsEVI16OFD14
Cytomap

6p22.3

11q13.4

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor SOX-4SRY (sex determining region Y)-box 4SRY-related HMG-box gene 4ecotropic viral integration site 16C2 domain-containing protein 3
Modification date2018052720180519
UniProtAcc

Q06945

Q4AC94

Ensembl transtripts involved in fusion geneENST00000244745, ENST00000543472, 
ENST00000334126, ENST00000313663, 
ENST00000542452, ENST00000539061, 
Fusion gene scores* DoF score6 X 10 X 2=12010 X 9 X 6=540
# samples 1011
** MAII scorelog2(10/120*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/540*10)=-2.29545588352617
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SOX4 [Title/Abstract] AND C2CD3 [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
HgeneSOX4

GO:0006355

regulation of transcription, DNA-templated

7706298|16631117

HgeneSOX4

GO:0042769

DNA damage response, detection of DNA damage

19234109

HgeneSOX4

GO:0045893

positive regulation of transcription, DNA-templated

16631117|19147588

HgeneSOX4

GO:0045944

positive regulation of transcription by RNA polymerase II

19147588

HgeneSOX4

GO:2000761

positive regulation of N-terminal peptidyl-lysine acetylation

19234109

TgeneC2CD3

GO:0061511

centriole elongation

24997988

TgeneC2CD3

GO:0071539

protein localization to centrosome

24997988


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
ChiTaRS3.1DB315449SOX4chr6

21597111

-C2CD3chr11

73753123

+
* 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-3CDSENST00000244745ENST00000334126SOX4chr6

21597111

-C2CD3chr11

73753123

+
3UTR-3CDSENST00000244745ENST00000313663SOX4chr6

21597111

-C2CD3chr11

73753123

+
3UTR-intronENST00000244745ENST00000542452SOX4chr6

21597111

-C2CD3chr11

73753123

+
3UTR-intronENST00000244745ENST00000539061SOX4chr6

21597111

-C2CD3chr11

73753123

+
intron-3CDSENST00000543472ENST00000334126SOX4chr6

21597111

-C2CD3chr11

73753123

+
intron-3CDSENST00000543472ENST00000313663SOX4chr6

21597111

-C2CD3chr11

73753123

+
intron-intronENST00000543472ENST00000542452SOX4chr6

21597111

-C2CD3chr11

73753123

+
intron-intronENST00000543472ENST00000539061SOX4chr6

21597111

-C2CD3chr11

73753123

+

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FusionProtFeatures for SOX4_C2CD3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SOX4

Q06945

C2CD3

Q4AC94

Transcriptional activator that binds with high affinityto the T-cell enhancer motif 5'-AACAAAG-3' motif.

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 SOX4_C2CD3


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 SOX4_C2CD3


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 SOX4_C2CD3


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 SOX4_C2CD3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSOX4C0010606Adenoid Cystic Carcinoma1CTD_human
HgeneSOX4C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneSOX4C0023904Liver Neoplasms, Experimental1CTD_human
HgeneSOX4C0036095Salivary Gland Neoplasms1CTD_human
TgeneC2CD3C0029294Orofaciodigital Syndromes1CTD_human
TgeneC2CD3C4014780OROFACIODIGITAL SYNDROME XIV1ORPHANET;UNIPROT