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Fusion gene ID: 8058 |
FusionGeneSummary for COMT_YPEL1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: COMT_YPEL1 | Fusion gene ID: 8058 | Hgene | Tgene | Gene symbol | COMT | YPEL1 | Gene ID | 1312 | 29799 |
Gene name | catechol-O-methyltransferase | yippee like 1 | |
Synonyms | HEL-S-98n | FKSG3 | |
Cytomap | 22q11.21 | 22q11.21-q11.22 | |
Type of gene | protein-coding | protein-coding | |
Description | catechol O-methyltransferasecatechol-O-methyltransferase isoformepididymis secretory sperm binding protein Li 98ntesticular tissue protein Li 42 | protein yippee-like 1DiGeorge syndrome-related protein | |
Modification date | 20180527 | 20180519 | |
UniProtAcc | P21964 | O60688 | |
Ensembl transtripts involved in fusion gene | ENST00000361682, ENST00000403184, ENST00000403710, ENST00000407537, ENST00000406520, ENST00000449653, ENST00000493893, | ENST00000339468, ENST00000403503, | |
Fusion gene scores | * DoF score | 9 X 8 X 4=288 | 5 X 2 X 4=40 |
# samples | 10 | 5 | |
** MAII score | log2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | COMT | GO:0042424 | catecholamine catabolic process | 15645182|21846718 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | ACC | TCGA-OR-A5JY-01A | COMT | chr22 | 19951822 | + | YPEL1 | chr22 | 22065197 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-5UTR | ENST00000361682 | ENST00000339468 | COMT | chr22 | 19951822 | + | YPEL1 | chr22 | 22065197 | - |
5CDS-5UTR | ENST00000361682 | ENST00000403503 | COMT | chr22 | 19951822 | + | YPEL1 | chr22 | 22065197 | - |
5CDS-5UTR | ENST00000403184 | ENST00000339468 | COMT | chr22 | 19951822 | + | YPEL1 | chr22 | 22065197 | - |
5CDS-5UTR | ENST00000403184 | ENST00000403503 | COMT | chr22 | 19951822 | + | YPEL1 | chr22 | 22065197 | - |
5CDS-5UTR | ENST00000403710 | ENST00000339468 | COMT | chr22 | 19951822 | + | YPEL1 | chr22 | 22065197 | - |
5CDS-5UTR | ENST00000403710 | ENST00000403503 | COMT | chr22 | 19951822 | + | YPEL1 | chr22 | 22065197 | - |
5CDS-5UTR | ENST00000407537 | ENST00000339468 | COMT | chr22 | 19951822 | + | YPEL1 | chr22 | 22065197 | - |
5CDS-5UTR | ENST00000407537 | ENST00000403503 | COMT | chr22 | 19951822 | + | YPEL1 | chr22 | 22065197 | - |
5CDS-5UTR | ENST00000406520 | ENST00000339468 | COMT | chr22 | 19951822 | + | YPEL1 | chr22 | 22065197 | - |
5CDS-5UTR | ENST00000406520 | ENST00000403503 | COMT | chr22 | 19951822 | + | YPEL1 | chr22 | 22065197 | - |
5CDS-5UTR | ENST00000449653 | ENST00000339468 | COMT | chr22 | 19951822 | + | YPEL1 | chr22 | 22065197 | - |
5CDS-5UTR | ENST00000449653 | ENST00000403503 | COMT | chr22 | 19951822 | + | YPEL1 | chr22 | 22065197 | - |
5CDS-5UTR | ENST00000493893 | ENST00000339468 | COMT | chr22 | 19951822 | + | YPEL1 | chr22 | 22065197 | - |
5CDS-5UTR | ENST00000493893 | ENST00000403503 | COMT | chr22 | 19951822 | + | YPEL1 | chr22 | 22065197 | - |
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FusionProtFeatures for COMT_YPEL1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
COMT | YPEL1 |
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. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for COMT_YPEL1 |
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 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
COMT | TRIP13, 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, MTNR1A | YPEL1 | FUS, CTTNBP2NL, FBXL20, FBXL2, STRN4, STRIP1, STRN3 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for COMT_YPEL1 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | COMT | P21964 | DB00494 | Entacapone | Catechol O-methyltransferase | small molecule | approved|investigational |
Hgene | COMT | P21964 | DB00118 | Ademetionine | Catechol O-methyltransferase | small molecule | approved|investigational|nutraceutical |
Hgene | COMT | P21964 | DB00323 | Tolcapone | Catechol O-methyltransferase | small molecule | approved|withdrawn |
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RelatedDiseases for COMT_YPEL1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | COMT | C0005586 | Bipolar Disorder | 6 | CTD_human;PSYGENET |
Hgene | COMT | C0001723 | Affective Disorders, Psychotic | 5 | PSYGENET |
Hgene | COMT | C0011570 | Mental Depression | 5 | PSYGENET |
Hgene | COMT | C0011581 | Depressive disorder | 5 | PSYGENET |
Hgene | COMT | C0041696 | Unipolar Depression | 5 | PSYGENET |
Hgene | COMT | C0525045 | Mood Disorders | 5 | PSYGENET |
Hgene | COMT | C1269683 | Major Depressive Disorder | 5 | PSYGENET |
Hgene | COMT | C0036341 | Schizophrenia | 4 | CTD_human |
Hgene | COMT | C0024809 | Marijuana Abuse | 3 | PSYGENET |
Hgene | COMT | C0600427 | Cocaine Dependence | 3 | PSYGENET |
Hgene | COMT | C1458155 | Mammary Neoplasms | 3 | CTD_human |
Hgene | COMT | C0005587 | Depression, Bipolar | 2 | PSYGENET |
Hgene | COMT | C0233477 | Dysphoric mood | 2 | PSYGENET |
Hgene | COMT | C3160814 | Cannabis use | 2 | PSYGENET |
Hgene | COMT | C0001973 | Alcoholic Intoxication, Chronic | 1 | CTD_human |
Hgene | COMT | C0004352 | Autistic Disorder | 1 | CTD_human |
Hgene | COMT | C0004936 | Mental disorders | 1 | CTD_human |
Hgene | COMT | C0009241 | Cognition Disorders | 1 | CTD_human |
Hgene | COMT | C0012236 | DiGeorge Syndrome | 1 | CTD_human;ORPHANET |
Hgene | COMT | C0015934 | Fetal Growth Retardation | 1 | CTD_human |
Hgene | COMT | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
Hgene | COMT | C0026858 | Musculoskeletal Pain | 1 | CTD_human |
Hgene | COMT | C0030193 | Pain | 1 | CTD_human |
Hgene | COMT | C0031511 | Pheochromocytoma | 1 | CTD_human |
Hgene | COMT | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | COMT | C0039494 | Temporomandibular Joint Disorders | 1 | CTD_human |
Hgene | COMT | C0086133 | Depressive Syndrome | 1 | PSYGENET |
Hgene | COMT | C0178417 | Anhedonia | 1 | PSYGENET |
Hgene | COMT | C0236733 | Amphetamine-Related Disorders | 1 | CTD_human |
Hgene | COMT | C0236736 | Cocaine-Related Disorders | 1 | CTD_human |
Hgene | COMT | C1263846 | Attention deficit hyperactivity disorder | 1 | CTD_human;HPO |
Hgene | COMT | C1306067 | Drug-induced paranoid state | 1 | PSYGENET |
Hgene | COMT | C2239176 | Liver carcinoma | 1 | CTD_human |
Hgene | COMT | C2750088 | HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO | 1 | CTD_human |