Description

otoferlin [Source:HGNC Symbol;Acc:HGNC:8515]

Synonyms

DFNB6, DFNB9, FER1L2

Location

Chromosome 2: 26,457,203-26,558,698 reverse strand.

GRCh38:CM000664.2

About this gene

This gene has 7 transcripts (splice variants), 78 orthologues, 4 paralogues, is a member of 1 Ensembl protein family and is associated with 3 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
OTOF-001ENST0000027237171561997aaENSP00000272371
 
Protein coding
CCDS1725Q9HC10 NM_194248
NP_919224
TSL:1GENCODE basicAPPRIS P3
OTOF-005ENST0000040394669371997aaENSP00000385255
 
Protein coding
CCDS74497Q9HC10 NM_001287489
NP_001274418
TSL:5GENCODE basicAPPRIS ALT1
OTOF-004ENST0000040241551081307aaENSP00000383906
 
Protein coding
CCDS46241Q9HC10 NM_194322
NP_919303
TSL:1GENCODE basic
OTOF-002ENST0000033858149541230aaENSP00000345137
 
Protein coding
CCDS1726Q9HC10 NM_004802
NP_004793
TSL:1GENCODE basic
OTOF-003ENST0000033959847561230aaENSP00000344521
 
Protein coding
CCDS1724Q9HC10 NM_194323
NP_919304
TSL:1GENCODE basic
OTOF-007ENST00000426958557141aaENSP00000389917
 
Protein coding
-H7BZJ5 -CDS 5' incompleteTSL:3
OTOF-006ENST00000464574918No protein-
 
Retained intron
---TSL:5

Gene-based displays