| Type | Description |
|---|---|
| Definition | cochlin |
| Date | Results | Publications |
|---|---|---|
| 2020-10-31 13:17:00 | Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss. | 32562050 |
| 2020-07-25 11:07:00 | In 3 families with hearing impairment, whole exome sequencing revealed 3 novel variants in KCNQ4, LHFPL5 and COCH genes. Another variant in a homozygous state (c.116T>A, p.L39X) was identified in the COCH gene which encodes a secretory protein. | 31126177 |
| 2020-05-23 10:34:00 | we selectively filtered out several reports describing DFNA9 patients with MD-like symptoms caused by COCH mutation | 30904974 |
| 2019-06-15 10:54:00 | The aim of this study was to carry out a systematic review of all reported hearing and vestibular function data in P51S COCH mutation carriers and its correlation with age.[review] | 30806805 |
| 2018-12-29 12:07:00 | A homozygous nonsense c.292C>T(p.Arg98*) COCH variant was identified in two brothers with prelingual hearing impairment. | 29449721 |
| Type | IDs |
|---|---|
| Synonymous | COCH-5B2, COCH5B2, DFNA9, DFNB110 |
| Gene |
UniProtKB-ID:
COCH_HUMAN,
A0A2U3TZE7_HUMAN
UniprotKB:
O43405,
A0A2U3TZE7
UniParc:
UPI0007DC528F,
UPI0000072CC3,
UPI0000048EBB
EMBL:
AK292724,
CH471078,
AY358900,
AL049830,
AF006740,
AY916789,
BC007230
Ensembl:
ENSG00000100473
KO:
hsa:1690
|
| Nucleutide sequences |
EMBL-CDS:
EAW65963.1,
AAQ89259.1,
AAW82432.1,
EAW65965.1,
AAH07230.1,
AAC39545.1,
BAF85413.1,
EAW65964.1
Gene_ORFName:
UNQ257/PRO294
Ensembl_TRS:
ENST00000643575,
ENST00000475087,
ENST00000644874,
ENST00000396618,
ENST00000216361
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000494838,
ENSP00000379862,
ENSP00000451528,
ENSP00000496360,
ENSP00000216361
RefSeq:
NP_001334649.1,
NP_001128530.1,
NP_004077.1,
XP_016876560.1,
XP_024305274.1
|
| Others |
UniRef100:
UniRef100_O43405,
UniRef100_A0A2U3TZE7
UniRef90:
UniRef90_A0A2K6PK63,
UniRef90_O43405
UniRef50:
UniRef50_O43405
UniGene:
Hs.21016
CCDS:
CCDS9640.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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