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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: 22884

FusionGeneSummary for MUC4_PCYT1A

check button Fusion gene summary
Fusion gene informationFusion gene name: MUC4_PCYT1A
Fusion gene ID: 22884
HgeneTgene
Gene symbol

MUC4

PCYT1A

Gene ID

4585

5130

Gene namemucin 4, cell surface associatedphosphate cytidylyltransferase 1, choline, alpha
SynonymsASGP|HSA276359|MUC-4CCTA|CT|CTA|CTPCT|PCYT1|SMDCRD
Cytomap

3q29

3q29

Type of geneprotein-codingprotein-coding
Descriptionmucin-4ascites sialoglycoproteinmucin 4, tracheobronchialpancreatic adenocarcinoma mucintestis mucintracheobronchial mucincholine-phosphate cytidylyltransferase ACCT ACCT-alphaCT ACTP:phosphocholine cytidylyltransferase Aphosphorylcholine transferase A
Modification date2018052220180523
UniProtAcc

Q99102

P49585

Ensembl transtripts involved in fusion geneENST00000346145, ENST00000349607, 
ENST00000463781, ENST00000475231, 
ENST00000478685, 
ENST00000419333, 
ENST00000292823, ENST00000431016, 
ENST00000491544, 
Fusion gene scores* DoF score4 X 4 X 3=486 X 6 X 5=180
# samples 56
** MAII scorelog2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/180*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MUC4 [Title/Abstract] AND PCYT1A [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
TCGARVPAADTCGA-IB-AAUQ-01AMUC4chr3

195538607

-PCYT1Achr3

195941244

-
* 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-intronENST00000346145ENST00000419333MUC4chr3

195538607

-PCYT1Achr3

195941244

-
5CDS-intronENST00000346145ENST00000292823MUC4chr3

195538607

-PCYT1Achr3

195941244

-
5CDS-intronENST00000346145ENST00000431016MUC4chr3

195538607

-PCYT1Achr3

195941244

-
5CDS-intronENST00000346145ENST00000491544MUC4chr3

195538607

-PCYT1Achr3

195941244

-
5CDS-intronENST00000349607ENST00000419333MUC4chr3

195538607

-PCYT1Achr3

195941244

-
5CDS-intronENST00000349607ENST00000292823MUC4chr3

195538607

-PCYT1Achr3

195941244

-
5CDS-intronENST00000349607ENST00000431016MUC4chr3

195538607

-PCYT1Achr3

195941244

-
5CDS-intronENST00000349607ENST00000491544MUC4chr3

195538607

-PCYT1Achr3

195941244

-
5CDS-intronENST00000463781ENST00000419333MUC4chr3

195538607

-PCYT1Achr3

195941244

-
5CDS-intronENST00000463781ENST00000292823MUC4chr3

195538607

-PCYT1Achr3

195941244

-
5CDS-intronENST00000463781ENST00000431016MUC4chr3

195538607

-PCYT1Achr3

195941244

-
5CDS-intronENST00000463781ENST00000491544MUC4chr3

195538607

-PCYT1Achr3

195941244

-
5CDS-intronENST00000475231ENST00000419333MUC4chr3

195538607

-PCYT1Achr3

195941244

-
5CDS-intronENST00000475231ENST00000292823MUC4chr3

195538607

-PCYT1Achr3

195941244

-
5CDS-intronENST00000475231ENST00000431016MUC4chr3

195538607

-PCYT1Achr3

195941244

-
5CDS-intronENST00000475231ENST00000491544MUC4chr3

195538607

-PCYT1Achr3

195941244

-
5UTR-intronENST00000478685ENST00000419333MUC4chr3

195538607

-PCYT1Achr3

195941244

-
5UTR-intronENST00000478685ENST00000292823MUC4chr3

195538607

-PCYT1Achr3

195941244

-
5UTR-intronENST00000478685ENST00000431016MUC4chr3

195538607

-PCYT1Achr3

195941244

-
5UTR-intronENST00000478685ENST00000491544MUC4chr3

195538607

-PCYT1Achr3

195941244

-

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FusionProtFeatures for MUC4_PCYT1A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MUC4

Q99102

PCYT1A

P49585

Controls phosphatidylcholine synthesis.

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 MUC4_PCYT1A


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 MUC4_PCYT1A


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
MUC4PCYT1ABARD1, PDIA6, S100A13, NMNAT1, CEP170, CEP170P1, GPRC5C, IP6K3, TMEM206, STX11


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 MUC4_PCYT1A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgenePCYT1AP49585DB00122CholineCholine-phosphate cytidylyltransferase Asmall moleculeapproved|nutraceutical

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RelatedDiseases for MUC4_PCYT1A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMUC4C0000786Spontaneous abortion1CTD_human
HgeneMUC4C0007134Renal Cell Carcinoma1CTD_human
HgeneMUC4C0033578Prostatic Neoplasms1CTD_human
TgenePCYT1AC1837073Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy2ORPHANET;UNIPROT
TgenePCYT1AC0080178Spina Bifida1CTD_human
TgenePCYT1AC4277682Chemical and Drug Induced Liver Injury1CTD_human