|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 198 |
FusionGeneSummary for ABHD12_ERVFRD-1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ABHD12_ERVFRD-1 | Fusion gene ID: 198 | Hgene | Tgene | Gene symbol | ABHD12 | ERVFRD-1 | Gene ID | 26090 | 405754 |
| Gene name | abhydrolase domain containing 12 | endogenous retrovirus group FRD member 1, envelope | |
| Synonyms | ABHD12A|BEM46L2|C20orf22|PHARC|dJ965G21.2 | ERVFRDE1|GLLL6191|HERV-FRD|HERV-W/FRD|UNQ6191|envFRD | |
| Cytomap | 20p11.21 | 6p24.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | monoacylglycerol lipase ABHD122-arachidonoylglycerol hydrolaseabhydrolase domain-containing protein 12 | syncytin-2HERV-FRD provirus ancestral Env polyproteinHERV-FRD_6p24.1 provirus ancestral Env polyproteinendogenous retrovirus group FRD member 1envelope polyproteinsyncytin 2 | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q8N2K0 | P60508 | |
| Ensembl transtripts involved in fusion gene | ENST00000376542, ENST00000339157, ENST00000481556, | ENST00000472091, ENST00000542862, | |
| Fusion gene scores | * DoF score | 7 X 5 X 4=140 | 4 X 3 X 3=36 |
| # samples | 7 | 4 | |
| ** MAII score | log2(7/140*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ABHD12 [Title/Abstract] AND ERVFRD-1 [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 | ABHD12 | GO:0046464 | acylglycerol catabolic process | 22969151 |
| Hgene | ABHD12 | GO:0046475 | glycerophospholipid catabolic process | 25290914 |
| Hgene | ABHD12 | GO:0052651 | monoacylglycerol catabolic process | 25290914 |
| Tgene | ERVFRD-1 | GO:0000768 | syncytium formation by plasma membrane fusion | 14557543 |
| Tgene | ERVFRD-1 | GO:0006949 | syncytium formation | 23492904 |
| Tgene | ERVFRD-1 | GO:0045026 | plasma membrane fusion | 14557543 |
| 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 | LD | STAD | TCGA-HU-A4H5-01A | ABHD12 | chr20 | 25371149 | - | ERVFRD-1 | chr6 | 11103995 | - |
| * 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 |
| Frame-shift | ENST00000376542 | ENST00000472091 | ABHD12 | chr20 | 25371149 | - | ERVFRD-1 | chr6 | 11103995 | - |
| Frame-shift | ENST00000376542 | ENST00000542862 | ABHD12 | chr20 | 25371149 | - | ERVFRD-1 | chr6 | 11103995 | - |
| Frame-shift | ENST00000339157 | ENST00000472091 | ABHD12 | chr20 | 25371149 | - | ERVFRD-1 | chr6 | 11103995 | - |
| Frame-shift | ENST00000339157 | ENST00000542862 | ABHD12 | chr20 | 25371149 | - | ERVFRD-1 | chr6 | 11103995 | - |
| intron-3CDS | ENST00000481556 | ENST00000472091 | ABHD12 | chr20 | 25371149 | - | ERVFRD-1 | chr6 | 11103995 | - |
| intron-3CDS | ENST00000481556 | ENST00000542862 | ABHD12 | chr20 | 25371149 | - | ERVFRD-1 | chr6 | 11103995 | - |
Top |
FusionProtFeatures for ABHD12_ERVFRD-1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ABHD12 | ERVFRD-1 |
| This endogenous retroviral envelope protein has retainedits original fusogenic properties and participates in trophoblastfusion and the formation of a syncytium during placentamorphogenesis. The interaction with MFSD2A is apparently importantfor this process (PubMed:18988732). {ECO:0000269|PubMed:18988732}. Endogenous envelope proteins may have kept, lost ormodified their original function during evolution but this one canstill make pseudotypes with MLV, HIV-1 or SIV-1 virions and conferinfectivity. Retroviral envelope proteins mediate receptorrecognition and membrane fusion during early infection. Thesurface protein mediates receptor recognition, while thetransmembrane protein anchors the envelope heterodimer to theviral membrane through one transmembrane domain. The otherhydrophobic domain, called fusion peptide, mediates fusion of theviral membrane with the target cell membrane (PubMed:14694139).{ECO:0000269|PubMed:14694139}. |
| 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 |
Top |
FusionGeneSequence for ABHD12_ERVFRD-1 |
| 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). |
Top |
FusionGenePPI for ABHD12_ERVFRD-1 |
| 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 |
| ABHD12 | PEX19, SLC39A4, DPP9, TCTN2, TCTN3, SLC39A12, CPVL, TRIM25 | ERVFRD-1 | APP |
| - 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 |
Top |
RelatedDrugs for ABHD12_ERVFRD-1 |
| 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 |
Top |
RelatedDiseases for ABHD12_ERVFRD-1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|