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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: 35950

FusionGeneSummary for SREBF2_MUC4

check button Fusion gene summary
Fusion gene informationFusion gene name: SREBF2_MUC4
Fusion gene ID: 35950
HgeneTgene
Gene symbol

SREBF2

MUC4

Gene ID

6721

4585

Gene namesterol regulatory element binding transcription factor 2mucin 4, cell surface associated
SynonymsSREBP-2|SREBP2|bHLHd2ASGP|HSA276359|MUC-4
Cytomap

22q13.2

3q29

Type of geneprotein-codingprotein-coding
Descriptionsterol regulatory element-binding protein 2class D basic helix-loop-helix protein 2mucin-4ascites sialoglycoproteinmucin 4, tracheobronchialpancreatic adenocarcinoma mucintestis mucintracheobronchial mucin
Modification date2018052220180522
UniProtAcc

Q12772

Q99102

Ensembl transtripts involved in fusion geneENST00000361204, ENST00000491541, 
ENST00000346145, ENST00000349607, 
ENST00000463781, ENST00000475231, 
ENST00000478685, 
Fusion gene scores* DoF score19 X 18 X 5=17105 X 5 X 1=25
# samples 216
** MAII scorelog2(21/1710*10)=-3.02553509210714
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/25*10)=1.26303440583379
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SREBF2 [Title/Abstract] AND MUC4 [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
HgeneSREBF2

GO:0000122

negative regulation of transcription by RNA polymerase II

15358760|19098903

HgeneSREBF2

GO:0010886

positive regulation of cholesterol storage

15358760

HgeneSREBF2

GO:0045944

positive regulation of transcription by RNA polymerase II

12242332|12446768

HgeneSREBF2

GO:0072368

regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter

15358760

HgeneSREBF2

GO:0090370

negative regulation of cholesterol efflux

15358760


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
ChiTaRS3.1BE712652SREBF2chr22

42299113

-MUC4chr3

195475897

-
* 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
Frame-shitENST00000361204ENST00000346145SREBF2chr22

42299113

-MUC4chr3

195475897

-
Frame-shitENST00000361204ENST00000349607SREBF2chr22

42299113

-MUC4chr3

195475897

-
Frame-shitENST00000361204ENST00000463781SREBF2chr22

42299113

-MUC4chr3

195475897

-
Frame-shitENST00000361204ENST00000475231SREBF2chr22

42299113

-MUC4chr3

195475897

-
5CDS-intronENST00000361204ENST00000478685SREBF2chr22

42299113

-MUC4chr3

195475897

-
3UTR-3CDSENST00000491541ENST00000346145SREBF2chr22

42299113

-MUC4chr3

195475897

-
3UTR-3CDSENST00000491541ENST00000349607SREBF2chr22

42299113

-MUC4chr3

195475897

-
3UTR-3CDSENST00000491541ENST00000463781SREBF2chr22

42299113

-MUC4chr3

195475897

-
3UTR-3CDSENST00000491541ENST00000475231SREBF2chr22

42299113

-MUC4chr3

195475897

-
3UTR-intronENST00000491541ENST00000478685SREBF2chr22

42299113

-MUC4chr3

195475897

-

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FusionProtFeatures for SREBF2_MUC4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SREBF2

Q12772

MUC4

Q99102

Transcriptional activator required for lipidhomeostasis. Regulates transcription of the LDL receptor gene aswell as the cholesterol and to a lesser degree the fatty acidsynthesis pathway (By similarity). Binds the sterol regulatoryelement 1 (SRE-1) (5'-ATCACCCCAC-3') found in the flanking regionof the LDRL and HMG-CoA synthase genes. {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 SREBF2_MUC4


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 SREBF2_MUC4


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 SREBF2_MUC4


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 SREBF2_MUC4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSREBF2C0021655Insulin Resistance1CTD_human
HgeneSREBF2C0022661Kidney Failure, Chronic1CTD_human
HgeneSREBF2C0036341Schizophrenia1PSYGENET
HgeneSREBF2C0038356Stomach Neoplasms1CTD_human
HgeneSREBF2C2239176Liver carcinoma1CTD_human
TgeneMUC4C0000786Spontaneous abortion1CTD_human
TgeneMUC4C0007134Renal Cell Carcinoma1CTD_human
TgeneMUC4C0033578Prostatic Neoplasms1CTD_human