| Type | Description |
|---|---|
| Definition | THO complex 6 |
| Date | Results | Publications |
|---|---|---|
| 2017-06-24 11:47:00 | Results indicate three unrelated patients with bi-allelic mutations in THOC6 associated with intellectual disability and additional clinical features. | 27102954 |
| 2017-01-14 10:46:00 | In addition to confirming the morbid nature of THOC6 by providing an independent homozygous apparently loss of function allele in a patient with a compatible phenotype, our data also expand THOC6-related phenotype to include previously unreported imperforate anus and undescended testicles. | 26739162 |
| 2010-09-15 22:06:00 | Observational study of gene-disease association. (HuGE Navigator) | 19913121 |
| 2010-09-15 22:06:00 | Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | 20628086 |
| 2009-12-02 21:41:00 | Observational study of gene-disease association. (HuGE Navigator) | 19773279 |
| Type | IDs |
|---|---|
| Synonymous | WDR58, fSAP35 |
| Gene |
UniProtKB-ID:
THOC6_HUMAN
UniprotKB:
Q86W42
UniParc:
UPI00001418A7,
UPI000007162C,
UPI00000372D2
EMBL:
AK314086,
BC003118,
AK075330,
BC050674
Ensembl:
ENSG00000131652
KO:
hsa:79228
|
| Nucleutide sequences |
EMBL-CDS:
AAH03118.1,
BAC11552.1,
AAH50674.1,
BAG36782.1
Gene_ORFName:
PSEC0006
Ensembl_TRS:
ENST00000326266,
ENST00000253952,
ENST00000575576,
ENST00000574549
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000253952,
ENSP00000460015,
ENSP00000458295,
ENSP00000326531
RefSeq:
NP_001135822.1,
NP_001334632.1,
NP_077315.2,
NP_001334633.1
|
| Others |
UniRef100:
UniRef100_Q86W42
UniRef90:
UniRef90_Q86W42
UniRef50:
UniRef50_Q86W42
UniGene:
Hs.412304
CCDS:
CCDS86500.1,
CCDS45392.1,
CCDS10491.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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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