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Fusion gene ID: 203 |
FusionGeneSummary for ABHD12_RAD21 |
Fusion gene summary |
Fusion gene information | Fusion gene name: ABHD12_RAD21 | Fusion gene ID: 203 | Hgene | Tgene | Gene symbol | ABHD12 | RAD21 | Gene ID | 26090 | 5885 |
Gene name | abhydrolase domain containing 12 | RAD21 cohesin complex component | |
Synonyms | ABHD12A|BEM46L2|C20orf22|PHARC|dJ965G21.2 | CDLS4|HR21|HRAD21|MCD1|NXP1|SCC1|hHR21 | |
Cytomap | 20p11.21 | 8q24.11 | |
Type of gene | protein-coding | protein-coding | |
Description | monoacylglycerol lipase ABHD122-arachidonoylglycerol hydrolaseabhydrolase domain-containing protein 12 | double-strand-break repair protein rad21 homologNXP-1RAD21 homologSCC1 homologkleisinnuclear matrix protein 1protein involved in DNA double-strand break repairsister chromatid cohesion 1 | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q8N2K0 | O60216 | |
Ensembl transtripts involved in fusion gene | ENST00000376542, ENST00000339157, ENST00000481556, | ENST00000297338, ENST00000523986, ENST00000517749, ENST00000518055, ENST00000523547, | |
Fusion gene scores | * DoF score | 7 X 5 X 4=140 | 5 X 5 X 2=50 |
# samples | 7 | 6 | |
** MAII score | log2(7/140*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/50*10)=0.263034405833794 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: ABHD12 [Title/Abstract] AND RAD21 [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 | RAD21 | GO:0006357 | regulation of transcription by RNA polymerase II | 19468298 |
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 |
ChiTaRS3.1 | BG900137 | ABHD12 | chr20 | 25280910 | - | RAD21 | chr8 | 117886890 | - |
* 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 |
intron-5UTR | ENST00000376542 | ENST00000297338 | ABHD12 | chr20 | 25280910 | - | RAD21 | chr8 | 117886890 | - |
intron-intron | ENST00000376542 | ENST00000523986 | ABHD12 | chr20 | 25280910 | - | RAD21 | chr8 | 117886890 | - |
intron-intron | ENST00000376542 | ENST00000517749 | ABHD12 | chr20 | 25280910 | - | RAD21 | chr8 | 117886890 | - |
intron-intron | ENST00000376542 | ENST00000518055 | ABHD12 | chr20 | 25280910 | - | RAD21 | chr8 | 117886890 | - |
intron-intron | ENST00000376542 | ENST00000523547 | ABHD12 | chr20 | 25280910 | - | RAD21 | chr8 | 117886890 | - |
intron-5UTR | ENST00000339157 | ENST00000297338 | ABHD12 | chr20 | 25280910 | - | RAD21 | chr8 | 117886890 | - |
intron-intron | ENST00000339157 | ENST00000523986 | ABHD12 | chr20 | 25280910 | - | RAD21 | chr8 | 117886890 | - |
intron-intron | ENST00000339157 | ENST00000517749 | ABHD12 | chr20 | 25280910 | - | RAD21 | chr8 | 117886890 | - |
intron-intron | ENST00000339157 | ENST00000518055 | ABHD12 | chr20 | 25280910 | - | RAD21 | chr8 | 117886890 | - |
intron-intron | ENST00000339157 | ENST00000523547 | ABHD12 | chr20 | 25280910 | - | RAD21 | chr8 | 117886890 | - |
intron-5UTR | ENST00000481556 | ENST00000297338 | ABHD12 | chr20 | 25280910 | - | RAD21 | chr8 | 117886890 | - |
intron-intron | ENST00000481556 | ENST00000523986 | ABHD12 | chr20 | 25280910 | - | RAD21 | chr8 | 117886890 | - |
intron-intron | ENST00000481556 | ENST00000517749 | ABHD12 | chr20 | 25280910 | - | RAD21 | chr8 | 117886890 | - |
intron-intron | ENST00000481556 | ENST00000518055 | ABHD12 | chr20 | 25280910 | - | RAD21 | chr8 | 117886890 | - |
intron-intron | ENST00000481556 | ENST00000523547 | ABHD12 | chr20 | 25280910 | - | RAD21 | chr8 | 117886890 | - |
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FusionProtFeatures for ABHD12_RAD21 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
ABHD12 | RAD21 |
Cleavable component of the cohesin complex, involved inchromosome cohesion during cell cycle, in DNA repair, and inapoptosis. The cohesin complex is required for the cohesion ofsister chromatids after DNA replication. The cohesin complexapparently forms a large proteinaceous ring within which sisterchromatids can be trapped. At metaphase-anaphase transition, thisprotein is cleaved by separase/ESPL1 and dissociates fromchromatin, allowing sister chromatids to segregate. The cohesincomplex may also play a role in spindle pole assembly duringmitosis. Also plays a role in apoptosis, via its cleavage bycaspase-3/CASP3 or caspase-7/CASP7 during early steps ofapoptosis: the C-terminal 64 kDa cleavage product may act as anuclear signal to initiate cytoplasmic events involved in theapoptotic pathway. {ECO:0000269|PubMed:11875078,ECO:0000269|PubMed:12417729}. |
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 ABHD12_RAD21 |
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 ABHD12_RAD21 |
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 |
- 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 ABHD12_RAD21 |
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 |
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RelatedDiseases for ABHD12_RAD21 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | RAD21 | C0023470 | Myeloid Leukemia | 1 | CTD_human |
Tgene | RAD21 | C1860789 | Leukemia, Megakaryoblastic, of Down Syndrome | 1 | CTD_human |
Tgene | RAD21 | C3553517 | CORNELIA DE LANGE SYNDROME 4 | 1 | UNIPROT |