Gene: ABHD12 ENSG00000100997

Description

abhydrolase domain containing 12 [Source:HGNC Symbol;Acc:15868]

Gene Synonyms

ABHD12A, BEM46L2, C20orf22, DKFZP434P106, PHARC, dJ965G21.2

Location

Chromosome 20: 25,275,379-25,371,619 reverse strand.

GRCh37:CM000682.1

About this gene

This gene has 9 transcripts (splice variants), 1 paralogue and is associated with 3 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000376542.3	ABHD12-002	1725	404aa	ENSP00000365725.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS13172	I3L294 I3L440 Q8N2K0	NM_015600.4	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000339157.5	ABHD12-001	2117	398aa	ENSP00000341408.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS42857	I3L294 I3L440 Q8N2K0	NM_001042472.2	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000491682.1	ABHD12-006	814	159aa	ENSP00000459495.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		I3L294 I3L440	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000471287.1	ABHD12-008	805	105aa	ENSP00000460950.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		I3L440	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000576316.1	ABHD12-010	620	194aa	ENSP00000459121.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		I3L1V0	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000450393.1	ABHD12-005	615	187aa	ENSP00000413311.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q5T712	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000461204.1	ABHD12-004	712	118aa	ENSP00000460249.1	Nonsense mediated decay		I3L380	-	-
ENST00000465694.1	ABHD12-003	474	13aa	ENSP00000459278.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000481556.1	ABHD12-007	604	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

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Gene: ABHD12 ENSG00000100997

Summary