Description
otoferlin [Source:HGNC Symbol;Acc:8515]
Gene Synonyms
AUNB1, DFNB6, DFNB9, FER1L2, NSRD9
Location
Chromosome 2: 26,680,071-26,781,566 reverse strand.
GRCh37:CM000664.1
About this gene
This gene has 7 transcripts (splice variants), 3 paralogues and is associated with 2 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000272371.2 | OTOF-001 | 7156 | 1997aa | ENSP00000272371.2 | Protein coding | CCDS1725 | Q9HC10 | NM_194248.2 | GENCODE basic, |
ENST00000403946.3 | OTOF-005 | 6937 | 1997aa | ENSP00000385255.3 | Protein coding | Q9HC10 | NM_001287489.1 | GENCODE basic, | |
ENST00000402415.3 | OTOF-004 | 5108 | 1307aa | ENSP00000383906.3 | Protein coding | CCDS46241 | Q9HC10 | NM_194322.2 | GENCODE basic, |
ENST00000338581.6 | OTOF-002 | 4954 | 1230aa | ENSP00000345137.6 | Protein coding | CCDS1726 | Q9HC10 | NM_004802.3 | GENCODE basic, |
ENST00000339598.3 | OTOF-003 | 4756 | 1230aa | ENSP00000344521.3 | Protein coding | CCDS1724 | Q9HC10 | NM_194323.2 | GENCODE basic, |
ENST00000426958.1 | OTOF-007 | 557 | 141aa | ENSP00000389917.1 | Protein coding | - | - | CDS 5' incomplete, | |
ENST00000464574.1 | OTOF-006 | 918 | No protein | - | Retained intron | - | - | - |