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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: 203

FusionGeneSummary for ABHD12_RAD21

check button Fusion gene summary
Fusion gene informationFusion gene name: ABHD12_RAD21
Fusion gene ID: 203
HgeneTgene
Gene symbol

ABHD12

RAD21

Gene ID

26090

5885

Gene nameabhydrolase domain containing 12RAD21 cohesin complex component
SynonymsABHD12A|BEM46L2|C20orf22|PHARC|dJ965G21.2CDLS4|HR21|HRAD21|MCD1|NXP1|SCC1|hHR21
Cytomap

20p11.21

8q24.11

Type of geneprotein-codingprotein-coding
Descriptionmonoacylglycerol lipase ABHD122-arachidonoylglycerol hydrolaseabhydrolase domain-containing protein 12double-strand-break repair protein rad21 homologNXP-1RAD21 homologSCC1 homologkleisinnuclear matrix protein 1protein involved in DNA double-strand break repairsister chromatid cohesion 1
Modification date2018051920180523
UniProtAcc

Q8N2K0

O60216

Ensembl transtripts involved in fusion geneENST00000376542, ENST00000339157, 
ENST00000481556, 
ENST00000297338, 
ENST00000523986, ENST00000517749, 
ENST00000518055, ENST00000523547, 
Fusion gene scores* DoF score7 X 5 X 4=1405 X 5 X 2=50
# samples 76
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneABHD12

GO:0046464

acylglycerol catabolic process

22969151

HgeneABHD12

GO:0046475

glycerophospholipid catabolic process

25290914

HgeneABHD12

GO:0052651

monoacylglycerol catabolic process

25290914

TgeneRAD21

GO:0006357

regulation of transcription by RNA polymerase II

19468298


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
ChiTaRS3.1BG900137ABHD12chr20

25280910

-RAD21chr8

117886890

-
* 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-5UTRENST00000376542ENST00000297338ABHD12chr20

25280910

-RAD21chr8

117886890

-
intron-intronENST00000376542ENST00000523986ABHD12chr20

25280910

-RAD21chr8

117886890

-
intron-intronENST00000376542ENST00000517749ABHD12chr20

25280910

-RAD21chr8

117886890

-
intron-intronENST00000376542ENST00000518055ABHD12chr20

25280910

-RAD21chr8

117886890

-
intron-intronENST00000376542ENST00000523547ABHD12chr20

25280910

-RAD21chr8

117886890

-
intron-5UTRENST00000339157ENST00000297338ABHD12chr20

25280910

-RAD21chr8

117886890

-
intron-intronENST00000339157ENST00000523986ABHD12chr20

25280910

-RAD21chr8

117886890

-
intron-intronENST00000339157ENST00000517749ABHD12chr20

25280910

-RAD21chr8

117886890

-
intron-intronENST00000339157ENST00000518055ABHD12chr20

25280910

-RAD21chr8

117886890

-
intron-intronENST00000339157ENST00000523547ABHD12chr20

25280910

-RAD21chr8

117886890

-
intron-5UTRENST00000481556ENST00000297338ABHD12chr20

25280910

-RAD21chr8

117886890

-
intron-intronENST00000481556ENST00000523986ABHD12chr20

25280910

-RAD21chr8

117886890

-
intron-intronENST00000481556ENST00000517749ABHD12chr20

25280910

-RAD21chr8

117886890

-
intron-intronENST00000481556ENST00000518055ABHD12chr20

25280910

-RAD21chr8

117886890

-
intron-intronENST00000481556ENST00000523547ABHD12chr20

25280910

-RAD21chr8

117886890

-

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FusionProtFeatures for ABHD12_RAD21


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ABHD12

Q8N2K0

RAD21

O60216

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}.

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 ABHD12_RAD21


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 ABHD12_RAD21


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


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 ABHD12_RAD21


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for ABHD12_RAD21


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRAD21C0023470Myeloid Leukemia1CTD_human
TgeneRAD21C1860789Leukemia, Megakaryoblastic, of Down Syndrome1CTD_human
TgeneRAD21C3553517CORNELIA DE LANGE SYNDROME 41UNIPROT