| Type | Description |
|---|---|
| Definition | taperin |
| Date | Results | Publications |
|---|---|---|
| 2014-02-22 11:25:00 | A Pakistani family in which the affected individuals were homozygous for a pathogenic mutation, c.42_52del11, in TPRN. | 23340767 |
| 2010-04-19 11:28:00 | Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79 | 20170899 |
| 2010-04-19 11:28:00 | genome-wide homozygosity mapping in a Moroccan family; mapped autosomal-recessive nonsyndromic hearing loss to DFNB79 locus on chromosome 9q34; identified a causative homozygous 11 bp deletion, c.42_52del, in TPRN gene in affected individuals | 20170898 |
| Type | IDs |
|---|---|
| Synonymous | C9orf75, DFNB79 |
| Gene |
UniProtKB-ID:
TPRN_HUMAN
UniprotKB:
Q4KMQ1
UniParc:
UPI0000140C36,
UPI0001722188,
UPI000189A73B,
UPI0000458B17
EMBL:
BC128601,
AL929554,
BC071831,
BC111500,
AK074735,
BC098411,
BC143385
Ensembl:
ENSG00000176058
KO:
hsa:286262
|
| Nucleutide sequences |
EMBL-CDS:
BAC11169.1,
AAH98411.1,
AAI28602.1,
AAI11501.1,
AAI43386.1,
AAH71831.1
Ensembl_TRS:
ENST00000409012
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000387100
RefSeq:
NP_001121700.2
|
| Others |
UniRef100:
UniRef100_Q4KMQ1
UniRef90:
UniRef90_Q4KMQ1
UniRef50:
UniRef50_Q4KMQ1
UniGene:
Hs.323445
CCDS:
CCDS56594.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
||||
暂无数据
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
{{author.value}} |
{{author.size}} |
目前还没有研究热点人员