| Type | Description |
|---|---|
| Definition | Ski2 like RNA helicase |
| Date | Results | Publications |
|---|---|---|
| 2019-06-01 10:16:00 | We then examined the lab diagnostic cohort in detail for clinical manifestations. For the first time, we are able to suggest that patients lacking SKIV2L seem more severely affected than those lacking TTC37, in terms of liver damage and prenatal growth impairment. | 29527791 |
| 2017-11-18 12:16:00 | This meta-analysis showed that SKIV2L rs429608 was statistically associated with age-related macular degeneration(AMD) and it might exert a protective effect on AMD. Further investigations are needed to validate the association and confirm the role of SKIV2L in AMD. | 27484132 |
| 2017-04-08 10:58:00 | The present study was the first, to the best of our knowledge, to report a case of a boy with THES resulting from compound heterozygous mutations of the SKIV2L gene in China. | 27431780 |
| 2017-01-14 11:13:00 | Study reported three point mutations, which have not been previously described in other patients with THES in SKIV2L and TTC37 genes, including one nonsense, one frameshift, and one missense mutations. | 27050310 |
| 2016-05-21 10:24:00 | Data from 4 consanguineous families in Saudi Arabia suggest SKIV2L mutations in tricho-hepato-enteric syndrome can include deletions (c.3559_3579del, p.1187_1193del; 4 subjects) and nonsense mutation (c.C4102T, p.Q1368X; 1 subject). [CASE REPORT] | 25714577 |
| Type | IDs |
|---|---|
| Synonymous | 170A, DDX13, HLP, SKI2, SKI2W, SKIV2, SKIV2L1, THES2 |
| Gene |
UniProtKB-ID:
SKIV2_HUMAN,
A0A1U9X8J1_HUMAN
UniprotKB:
Q15477,
A0A1U9X8J1
UniParc:
UPI000045740B
EMBL:
Z48796,
KY500632,
AL662849,
X98378,
KY500631,
U09877,
AL645922,
AF019413
Ensembl:
ENSG00000228896,
ENSG00000223493,
ENSG00000225737,
ENSG00000232616,
ENSG00000204351,
ENSG00000206353
KO:
hsa:6499
|
| Nucleutide sequences |
EMBL-CDS:
AAB67978.1,
AAB52523.1,
CAA88733.1,
CAA67024.1,
AQY77104.1,
AQY77103.1
Ensembl_TRS:
ENST00000429465,
ENST00000421789,
ENST00000375394,
ENST00000412823,
ENST00000383336,
ENST00000448219
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000399530,
ENSP00000400626,
ENSP00000394400,
ENSP00000364543,
ENSP00000412310,
ENSP00000372827
RefSeq:
XP_011513117.1,
NP_008860.4
|
| Others |
UniRef100:
UniRef100_Q15477
UniRef90:
UniRef90_Q15477
UniRef50:
UniRef50_Q15477
UniGene:
Hs.89864
CCDS:
CCDS4731.1
|
| {{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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