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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: 26315

FusionGeneSummary for PCYT1A_EPHA6

check button Fusion gene summary
Fusion gene informationFusion gene name: PCYT1A_EPHA6
Fusion gene ID: 26315
HgeneTgene
Gene symbol

PCYT1A

EPHA6

Gene ID

5130

285220

Gene namephosphate cytidylyltransferase 1, choline, alphaEPH receptor A6
SynonymsCCTA|CT|CTA|CTPCT|PCYT1|SMDCRDEHK-2|EHK2|EK12|EPA6|HEK12|PRO57066
Cytomap

3q29

3q11.2

Type of geneprotein-codingprotein-coding
Descriptioncholine-phosphate cytidylyltransferase ACCT ACCT-alphaCT ACTP:phosphocholine cytidylyltransferase Aphosphorylcholine transferase Aephrin type-A receptor 6EPH homology kinase 2EPH-like kinase 12ephrin receptor EphA6
Modification date2018052320180523
UniProtAcc

P49585

Q9UF33

Ensembl transtripts involved in fusion geneENST00000419333, ENST00000292823, 
ENST00000431016, ENST00000491544, 
ENST00000470610, ENST00000389672, 
ENST00000542517, ENST00000514100, 
ENST00000502694, ENST00000442602, 
Fusion gene scores* DoF score2 X 2 X 3=128 X 8 X 4=256
# samples 38
** MAII scorelog2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(8/256*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PCYT1A [Title/Abstract] AND EPHA6 [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
TCGARVPRADTCGA-KK-A59X-01APCYT1Achr3

196014403

-EPHA6chr3

97123994

+
* 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
intron-intronENST00000419333ENST00000470610PCYT1Achr3

196014403

-EPHA6chr3

97123994

+
intron-intronENST00000419333ENST00000389672PCYT1Achr3

196014403

-EPHA6chr3

97123994

+
intron-intronENST00000419333ENST00000542517PCYT1Achr3

196014403

-EPHA6chr3

97123994

+
intron-intronENST00000419333ENST00000514100PCYT1Achr3

196014403

-EPHA6chr3

97123994

+
intron-intronENST00000419333ENST00000502694PCYT1Achr3

196014403

-EPHA6chr3

97123994

+
intron-intronENST00000419333ENST00000442602PCYT1Achr3

196014403

-EPHA6chr3

97123994

+
intron-intronENST00000292823ENST00000470610PCYT1Achr3

196014403

-EPHA6chr3

97123994

+
intron-intronENST00000292823ENST00000389672PCYT1Achr3

196014403

-EPHA6chr3

97123994

+
intron-intronENST00000292823ENST00000542517PCYT1Achr3

196014403

-EPHA6chr3

97123994

+
intron-intronENST00000292823ENST00000514100PCYT1Achr3

196014403

-EPHA6chr3

97123994

+
intron-intronENST00000292823ENST00000502694PCYT1Achr3

196014403

-EPHA6chr3

97123994

+
intron-intronENST00000292823ENST00000442602PCYT1Achr3

196014403

-EPHA6chr3

97123994

+
intron-intronENST00000431016ENST00000470610PCYT1Achr3

196014403

-EPHA6chr3

97123994

+
intron-intronENST00000431016ENST00000389672PCYT1Achr3

196014403

-EPHA6chr3

97123994

+
intron-intronENST00000431016ENST00000542517PCYT1Achr3

196014403

-EPHA6chr3

97123994

+
intron-intronENST00000431016ENST00000514100PCYT1Achr3

196014403

-EPHA6chr3

97123994

+
intron-intronENST00000431016ENST00000502694PCYT1Achr3

196014403

-EPHA6chr3

97123994

+
intron-intronENST00000431016ENST00000442602PCYT1Achr3

196014403

-EPHA6chr3

97123994

+
intron-intronENST00000491544ENST00000470610PCYT1Achr3

196014403

-EPHA6chr3

97123994

+
intron-intronENST00000491544ENST00000389672PCYT1Achr3

196014403

-EPHA6chr3

97123994

+
intron-intronENST00000491544ENST00000542517PCYT1Achr3

196014403

-EPHA6chr3

97123994

+
intron-intronENST00000491544ENST00000514100PCYT1Achr3

196014403

-EPHA6chr3

97123994

+
intron-intronENST00000491544ENST00000502694PCYT1Achr3

196014403

-EPHA6chr3

97123994

+
intron-intronENST00000491544ENST00000442602PCYT1Achr3

196014403

-EPHA6chr3

97123994

+

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FusionProtFeatures for PCYT1A_EPHA6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PCYT1A

P49585

EPHA6

Q9UF33

Controls phosphatidylcholine synthesis. Receptor tyrosine kinase which binds promiscuously GPI-anchored ephrin-A family ligands residing on adjacent cells,leading to contact-dependent bidirectional signaling intoneighboring cells. The signaling pathway downstream of thereceptor is referred to as forward signaling while the signalingpathway downstream of the ephrin ligand is referred to as reversesignaling (By similarity). {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 PCYT1A_EPHA6


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 PCYT1A_EPHA6


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
PCYT1ABARD1, PDIA6, S100A13, NMNAT1, CEP170, CEP170P1, GPRC5C, IP6K3, TMEM206, STX11EPHA6GPHA2, PROC, DEFA5


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 PCYT1A_EPHA6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePCYT1AP49585DB00122CholineCholine-phosphate cytidylyltransferase Asmall moleculeapproved|nutraceutical

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RelatedDiseases for PCYT1A_EPHA6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePCYT1AC1837073Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy2ORPHANET;UNIPROT
HgenePCYT1AC0080178Spina Bifida1CTD_human
HgenePCYT1AC4277682Chemical and Drug Induced Liver Injury1CTD_human