Transcript: ENST00000449131.2 BEST1-002

Description

bestrophin 1 [Source:HGNC Symbol;Acc:12703]

Gene Synonyms

ARB, BEST, BMD, RP50, TU15B, VMD2

Location

Chromosome 11: 61,717,842-61,732,987 forward strand.

About this transcript

This transcript has 9 exons, is annotated with 6 domains and features, is associated with 7749 variant alleles and maps to 590 oligo probes.

Gene

This transcript is a product of gene ENSG00000167995.11 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000449131.2	BEST1-002	4267	604aa	ENSP00000399709.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS44623	G8JLA7 O76090	NM_001139443.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000378043.4	BEST1-001	2740	585aa	ENSP00000367282.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS31580	O76090	NM_004183.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000378042.3	BEST1-202	2598	498aa	ENSP00000367281.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		O76090	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000534553.1	BEST1-004	1829	55aa	ENSP00000431189.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PMB5	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000301774.9	BEST1-201	1829	292aa	ENSP00000301774.9	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G8JLA7	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000526988.1	BEST1-006	1263	329aa	ENSP00000433195.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B7Z1N8	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000435278.2	BEST1-203	1023	270aa	ENSP00000408390.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B7Z375	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000524926.1	BEST1-003	2404	435aa	ENSP00000432681.1	Nonsense mediated decay		B7Z1N8 B7Z3G2 O76090	-	-
ENST00000524877.1	BEST1-005	5772	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000529265.1	BEST1-008	1421	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000533521.1	BEST1-007	1128	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary

Statistics

Exons: 9, Coding exons: 8, Transcript length: 4,267 bps, Translation length: 604 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: O76090

CCDS

This transcript is a member of the Human CCDS set: CCDS44623

Version

ENST00000449131.2

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:	OTTHUMT00000394721 (version 2)

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

Favourite species

All species

Recent locations

Transcript: ENST00000449131.2 BEST1-002

Summary