| Type | Description |
|---|---|
| Definition | otoferlin |
| Date | Results | Publications |
|---|---|---|
| 2020-09-12 16:06:00 | [OTOF-related auditory neuropathy spectrum disorder].", trans "Zabolevanie spektra auditornykh neiropatii, obuslovlennoe mutatsiyami v gene otoferlina (OTOF). | 32476384 |
| 2020-08-01 10:56:00 | Novel compound heterozygous OTOF mutations were present in two Chinese auditory neuropathy spectrum disorder patients. | 31827501 |
| 2020-07-04 10:17:00 | Two affected siblings from a consanguineous Chinese Dai family with non-syndromic hearing loss harbored an c.1274G>C, p.Arg425Pro missense variant in the OTOF. | 31250571 |
| 2020-05-23 10:59:00 | The otoferlin enhances cancer cell proliferation, migration and metabolism by affecting various aspects of membrane biology. | 31443490 |
| 2020-05-14 14:35:00 | This publication deals with otoferlin (FER-1), which is similar to FER1L4, in both C. elegans and humans. | 9175703 |
| Type | IDs |
|---|---|
| Synonymous | AUNB1, DFNB6, DFNB9, FER1L2, NSRD9 |
| Gene |
UniProtKB-ID:
OTOF_HUMAN
UniprotKB:
Q9HC10
UniParc:
UPI000013D94D,
UPI000173A4A0,
UPI00001D2D34,
UPI000013F7EB,
UPI000013F7F7
EMBL:
AF183187,
AF107403,
AC093378,
CH471053,
AK296272,
AF183185,
AC108070,
AF183186
Ensembl:
ENSG00000115155
KO:
hsa:9381
|
| Nucleutide sequences |
EMBL-CDS:
AAD26117.1,
EAX00686.1,
EAX00684.1,
AAG12992.1,
AAG17468.1,
AAY15083.1,
AAG12991.1,
BAG58982.1
Ensembl_TRS:
ENST00000339598,
ENST00000272371,
ENST00000403946,
ENST00000338581
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000272371,
ENSP00000345137,
ENSP00000385255,
ENSP00000344521
RefSeq:
NP_001274418.1,
NP_919303.1,
NP_919224.1,
NP_004793.2,
NP_919304.1
|
| Others |
UniRef100:
UniRef100_Q9HC10
UniRef90:
UniRef90_Q9HC10
UniRef50:
UniRef50_Q9HC10
UniGene:
Hs.91608
CCDS:
CCDS1724.1,
CCDS46241.1,
CCDS1726.1,
CCDS74497.1,
CCDS1725.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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