Gene: OTC ENSG00000036473

Description

ornithine transcarbamylase [Source:HGNC Symbol;Acc:HGNC:8512]

Gene Synonyms

OTC1, OTCASE, OTCD

Location

Chromosome X: 38,352,586-38,421,446 forward strand.

GRCh38:CM000685.2

About this gene

This gene has 3 transcripts (splice variants), 200 orthologues, 2 paralogues and is associated with 3 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq Match	Flags
ENST00000039007.5	OTC-201	1522	354aa	ENSP00000039007.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS14247	P00480	NM_000531.6	The Matched Annotation from NCBI and EMBL-EBI is a collaboration between Ensembl/GENCODE and RefSeq. The MANE Select is a default transcript per human gene that is representative of biology, well-supported, expressed and highly-conserved. This transcript set matches GRCh38 and is 100% identical between RefSeq and Ensembl/GENCODE for 5' UTR, CDS, splicing and 3'UTR.MANE Select, 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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1, TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:1,
ENST00000643344.1	OTC-203	1304	130aa	ENSP00000496606.1	Nonsense mediated decay		A0A2R8Y829	-	-
ENST00000488812.1	OTC-202	627	No protein	-	Alternatively spliced transcript of a protein coding gene for which we cannot define a CDS.Protein coding CDS not defined		-	-	TSL 5: A transcript where no single transcript supports the model structure. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:5,

Gene: OTC ENSG00000036473

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Gene: OTC ENSG00000036473

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