Transcript: ENST00000426958.1 OTOF-007

Description

otoferlin [Source:HGNC Symbol;Acc:8515]

Gene Synonyms

AUNB1, DFNB6, DFNB9, FER1L2, NSRD9

Location

Chromosome 2: 26,695,200-26,696,409 reverse strand.

About this transcript

This transcript has 3 exons, is annotated with 5 domains and features, is associated with 792 variant alleles and maps to 78 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: 3, Coding exons: 3, Transcript length: 557 bps, Translation length: 141 residues

Incomplete CDS

5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete

Version

ENST00000426958.1

Type

Protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000324495 (version 1)

Favourite species

All species

Recent locations

Transcript: ENST00000426958.1 OTOF-007

Summary