Transcript: ENST00000338581.6 OTOF-002

Description

otoferlin [Source:HGNC Symbol;Acc:8515]

Gene Synonyms

AUNB1, DFNB6, DFNB9, FER1L2, NSRD9

Location

Chromosome 2: 26,680,071-26,700,910 reverse strand.

About this transcript

This transcript has 30 exons, is annotated with 33 domains and features, is associated with 11468 variant alleles and maps to 837 oligo probes.

Gene

This transcript is a product of gene ENSG00000115155.12 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000272371.2	OTOF-001	7156	1997aa	ENSP00000272371.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS1725	Q9HC10	NM_194248.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000403946.3	OTOF-005	6937	1997aa	ENSP00000385255.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q9HC10	NM_001287489.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000402415.3	OTOF-004	5108	1307aa	ENSP00000383906.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS46241	Q9HC10	NM_194322.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000338581.6	OTOF-002	4954	1230aa	ENSP00000345137.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS1726	Q9HC10	NM_004802.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000339598.3	OTOF-003	4756	1230aa	ENSP00000344521.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS1724	Q9HC10	NM_194323.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000426958.1	OTOF-007	557	141aa	ENSP00000389917.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000464574.1	OTOF-006	918	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: 30, Coding exons: 28, Transcript length: 4,954 bps, Translation length: 1,230 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9HC10

CCDS

This transcript is a member of the Human CCDS set: CCDS1726

Version

ENST00000338581.6

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.

Stop codons

This transcript has a variant, rs75624587, that causes a stop codon to be gained in at least 10% of HapMap or 1000 Genome population(s) ESP6500:African_American.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:	OTTHUMT00000214048 (version 1)

GENCODE basic gene

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

Favourite species

All species

Recent locations

Transcript: ENST00000338581.6 OTOF-002

Summary