| Type | Description |
|---|---|
| Definition | chromosome 8 open reading frame 37 |
| Date | Results | Publications |
|---|---|---|
| 2017-11-11 13:53:00 | We conclude that C8orf37 should be added to Bardet-Biedl syndrome (BBS) screening panels as a probable rare cause of the disease and that individuals with C8orf37-related retinal dystrophy should be screened for BBS features. | 26854863 |
| 2017-11-11 13:41:00 | This report extends the genotypic spectrum of C8orf37-associated retinal dystrophies and demonstrates for the first time a genotype-phenotype correlation between an arCRD-polydactyly-association and truncating germline mutations affecting the N-terminal region of the protein. | 26865426 |
| 2017-09-30 11:08:00 | This is the first functional validation and association of C8ORF37 mutations with the BBS phenotype, which identifies BBS21. The zebrafish studies hereby show that C8ORF37 variants underlie clinically diagnosed BBS-related phenotypes as well as isolated retinal degeneration | 27008867 |
| 2016-09-17 11:34:00 | Our study identified two novel truncating mutations of the C8orf37 gene in siblings with early-onset retinal dystrophy, macular atrophy, cataracts, and high myopia. | 25113443 |
| 2015-09-12 11:35:00 | Novel C8orf37 mutations cause retinitis pigmentosa in two consanguineous families of Pakistani origin. | 25802487 |
| Type | IDs |
|---|---|
| Synonymous | BBS21, CORD16, RP64, smalltalk |
| Gene |
UniProtKB-ID:
CH037_HUMAN
UniprotKB:
Q96NL8
UniParc:
UPI00000737D8
EMBL:
CH471060,
AC024995,
AP003466,
GQ240139,
AK055162
Ensembl:
ENSG00000156172
KO:
hsa:157657
|
| Nucleutide sequences |
EMBL-CDS:
EAW91744.1,
ADE62519.1,
EAW91745.1,
BAB70866.1
Ensembl_TRS:
ENST00000286688
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000286688
RefSeq:
NP_001350189.1,
NP_808880.1
|
| Others |
UniRef100:
UniRef100_Q96NL8
UniRef90:
UniRef90_Q96NL8
UniRef50:
UniRef50_Q96NL8
UniGene:
Hs.548157
CCDS:
CCDS6268.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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}} - |
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