Gene: CYP27A1 ENSG00000135929

Description

cytochrome P450, family 27, subfamily A, polypeptide 1 [Source:HGNC Symbol;Acc:2605]

Gene Synonyms

CP27, CTX, CYP27

Location

GRCh37:CM000664.1

About this gene

This gene has 5 transcripts (splice variants), 8 paralogues and is associated with 4 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000258415.4	CYP27A1-001	2286	531aa	ENSP00000258415.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS2423	C9J1K5 Q02318	NM_000784.3	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,
ENST00000411688.1	CYP27A1-005	799	221aa	ENSP00000392671.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9J1K5	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000445971.1	CYP27A1-004	903	115aa	ENSP00000404945.1	Nonsense mediated decay		F8WD90	-	-
ENST00000494263.1	CYP27A1-002	2566	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000466602.1	CYP27A1-003	1210	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary