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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: 8058

FusionGeneSummary for COMT_YPEL1

check button Fusion gene summary
Fusion gene informationFusion gene name: COMT_YPEL1
Fusion gene ID: 8058
HgeneTgene
Gene symbol

COMT

YPEL1

Gene ID

1312

29799

Gene namecatechol-O-methyltransferaseyippee like 1
SynonymsHEL-S-98nFKSG3
Cytomap

22q11.21

22q11.21-q11.22

Type of geneprotein-codingprotein-coding
Descriptioncatechol O-methyltransferasecatechol-O-methyltransferase isoformepididymis secretory sperm binding protein Li 98ntesticular tissue protein Li 42protein yippee-like 1DiGeorge syndrome-related protein
Modification date2018052720180519
UniProtAcc

P21964

O60688

Ensembl transtripts involved in fusion geneENST00000361682, ENST00000403184, 
ENST00000403710, ENST00000407537, 
ENST00000406520, ENST00000449653, 
ENST00000493893, 
ENST00000339468, 
ENST00000403503, 
Fusion gene scores* DoF score9 X 8 X 4=2885 X 2 X 4=40
# samples 105
** MAII scorelog2(10/288*10)=-1.52606881166759
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: COMT [Title/Abstract] AND YPEL1 [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
HgeneCOMT

GO:0042424

catecholamine catabolic process

15645182|21846718


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
TCGARVACCTCGA-OR-A5JY-01ACOMTchr22

19951822

+YPEL1chr22

22065197

-
* 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-5UTRENST00000361682ENST00000339468COMTchr22

19951822

+YPEL1chr22

22065197

-
5CDS-5UTRENST00000361682ENST00000403503COMTchr22

19951822

+YPEL1chr22

22065197

-
5CDS-5UTRENST00000403184ENST00000339468COMTchr22

19951822

+YPEL1chr22

22065197

-
5CDS-5UTRENST00000403184ENST00000403503COMTchr22

19951822

+YPEL1chr22

22065197

-
5CDS-5UTRENST00000403710ENST00000339468COMTchr22

19951822

+YPEL1chr22

22065197

-
5CDS-5UTRENST00000403710ENST00000403503COMTchr22

19951822

+YPEL1chr22

22065197

-
5CDS-5UTRENST00000407537ENST00000339468COMTchr22

19951822

+YPEL1chr22

22065197

-
5CDS-5UTRENST00000407537ENST00000403503COMTchr22

19951822

+YPEL1chr22

22065197

-
5CDS-5UTRENST00000406520ENST00000339468COMTchr22

19951822

+YPEL1chr22

22065197

-
5CDS-5UTRENST00000406520ENST00000403503COMTchr22

19951822

+YPEL1chr22

22065197

-
5CDS-5UTRENST00000449653ENST00000339468COMTchr22

19951822

+YPEL1chr22

22065197

-
5CDS-5UTRENST00000449653ENST00000403503COMTchr22

19951822

+YPEL1chr22

22065197

-
5CDS-5UTRENST00000493893ENST00000339468COMTchr22

19951822

+YPEL1chr22

22065197

-
5CDS-5UTRENST00000493893ENST00000403503COMTchr22

19951822

+YPEL1chr22

22065197

-

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FusionProtFeatures for COMT_YPEL1


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

P21964

YPEL1

O60688

Catalyzes the O-methylation, and thereby theinactivation, of catecholamine neurotransmitters and catecholhormones. Also shortens the biological half-lives of certainneuroactive drugs, like L-DOPA, alpha-methyl DOPA andisoproterenol. {ECO:0000269|PubMed:21846718}. May play a role in epithelioid conversion offibroblasts.

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 COMT_YPEL1


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 COMT_YPEL1


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
COMTTRIP13, RGS2, VCP, VKORC1, FN1, XRN2, FBXO6, CDC27, KRTAP5-9, KRT31, KRT40, RNF2, COL1A2, FGF2, EXO1, RIN1, USP6NL, HIGD1A, PPA2, COQ9, CRBN, HCCS, RDH11, ESYT1, GBA, DCAKD, TMX1, NSDHL, RAB14, RAB2A, MTNR1AYPEL1FUS, CTTNBP2NL, FBXL20, FBXL2, STRN4, STRIP1, STRN3


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 COMT_YPEL1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCOMTP21964DB00494EntacaponeCatechol O-methyltransferasesmall moleculeapproved|investigational
HgeneCOMTP21964DB00118AdemetionineCatechol O-methyltransferasesmall moleculeapproved|investigational|nutraceutical
HgeneCOMTP21964DB00323TolcaponeCatechol O-methyltransferasesmall moleculeapproved|withdrawn

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RelatedDiseases for COMT_YPEL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOMTC0005586Bipolar Disorder6CTD_human;PSYGENET
HgeneCOMTC0001723Affective Disorders, Psychotic5PSYGENET
HgeneCOMTC0011570Mental Depression5PSYGENET
HgeneCOMTC0011581Depressive disorder5PSYGENET
HgeneCOMTC0041696Unipolar Depression5PSYGENET
HgeneCOMTC0525045Mood Disorders5PSYGENET
HgeneCOMTC1269683Major Depressive Disorder5PSYGENET
HgeneCOMTC0036341Schizophrenia4CTD_human
HgeneCOMTC0024809Marijuana Abuse3PSYGENET
HgeneCOMTC0600427Cocaine Dependence3PSYGENET
HgeneCOMTC1458155Mammary Neoplasms3CTD_human
HgeneCOMTC0005587Depression, Bipolar2PSYGENET
HgeneCOMTC0233477Dysphoric mood2PSYGENET
HgeneCOMTC3160814Cannabis use2PSYGENET
HgeneCOMTC0001973Alcoholic Intoxication, Chronic1CTD_human
HgeneCOMTC0004352Autistic Disorder1CTD_human
HgeneCOMTC0004936Mental disorders1CTD_human
HgeneCOMTC0009241Cognition Disorders1CTD_human
HgeneCOMTC0012236DiGeorge Syndrome1CTD_human;ORPHANET
HgeneCOMTC0015934Fetal Growth Retardation1CTD_human
HgeneCOMTC0024667Animal Mammary Neoplasms1CTD_human
HgeneCOMTC0026858Musculoskeletal Pain1CTD_human
HgeneCOMTC0030193Pain1CTD_human
HgeneCOMTC0031511Pheochromocytoma1CTD_human
HgeneCOMTC0033578Prostatic Neoplasms1CTD_human
HgeneCOMTC0039494Temporomandibular Joint Disorders1CTD_human
HgeneCOMTC0086133Depressive Syndrome1PSYGENET
HgeneCOMTC0178417Anhedonia1PSYGENET
HgeneCOMTC0236733Amphetamine-Related Disorders1CTD_human
HgeneCOMTC0236736Cocaine-Related Disorders1CTD_human
HgeneCOMTC1263846Attention deficit hyperactivity disorder1CTD_human;HPO
HgeneCOMTC1306067Drug-induced paranoid state1PSYGENET
HgeneCOMTC2239176Liver carcinoma1CTD_human
HgeneCOMTC2750088HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO1CTD_human