Transcript: ENST00000435278.2 BEST1-203

Description

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

Gene Synonyms

ARB, BEST, BMD, RP50, TU15B, VMD2

Location

Chromosome 11: 61,717,823-61,729,922 forward strand.

About this transcript

This transcript has 7 exons, is annotated with 5 domains and features, is associated with 6021 variant alleles and maps to 212 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: 7, Coding exons: 6, Transcript length: 1,023 bps, Translation length: 270 residues

Version

ENST00000435278.2

Type

Protein coding

Annotation Method

Annotation produced by the Ensembl genebuild.

GENCODE basic gene

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

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Transcript: ENST00000435278.2 BEST1-203

Summary