| Type | Description |
|---|---|
| Definition | docking protein 7 |
| Date | Results | Publications |
|---|---|---|
| 2020-10-03 12:53:00 | Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with 'unexplained' limb-girdle muscular weakness. | 32238315 |
| 2020-06-27 12:47:00 | 2 unrelated adult patients who presented with a limb-girdle congenital myasthenic syndrome, caused by 2 compound heterozygous pathogenic sequence variants in DOK7: c.1124_1127dupTGCC (P.Ala378Serfs*30) and c.480C> A (p.Tyr160*) | 31453852 |
| 2019-06-29 11:16:00 | this study shows hypermethylation of DOK7 gene in DNA from patients affected with breast cancer | 30829272 |
| 2019-03-16 11:06:00 | Data showed that DOK7 transcript variants 1 (DOK7V1) were decreased in lung cancer, and associated with poor overall survival and progressionfree survival. Its overexpression limited the proliferation and migration, but enhanced the adhesion to the extracellular matrix, of lung cancer cells. Further data indicate that DOK7V1 may inhibit proliferation and migration via negatively regulating the PI3K/AKT/mTOR signaling. | 30431081 |
| 2019-01-12 11:15:00 | Data identified MuSK activator Dok-7 as a another ROR1-binding protein independently of MuSK interaction. | 29292499 |
| Type | IDs |
|---|---|
| Synonymous | C4orf25, CMS10, CMS1B |
| Gene |
UniProtKB-ID:
DOK7_HUMAN,
Q8N1M3_HUMAN,
A0A1W2PRA3_HUMAN
UniprotKB:
Q18PE1,
Q8N1M3,
A0A1W2PRA3
UniParc:
UPI0000DA4A17,
UPI00000715BC,
UPI00000703E9,
UPI00024CB401,
UPI00003720AA,
UPI0000DE1F83
EMBL:
BC062369,
AK091037,
AK096456,
KF457734,
AB220918,
BC043568,
AL590235,
BC141852,
AK075037,
BC131544
Ensembl:
ENSG00000175920
KO:
hsa:285489
|
| Nucleutide sequences |
EMBL-CDS:
BAE96739.1,
BAC11367.1,
AAH62369.1,
AAH43568.1,
AAI41853.1,
AAI31545.1,
BAC03572.1,
BAC04795.1
Ensembl_TRS:
ENST00000340083,
ENST00000507039,
ENST00000515886
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000344432,
ENSP00000423614,
ENSP00000492194
RefSeq:
NP_775931.3,
NP_001243825.1,
XP_011511739.1,
XP_011511737.1,
NP_001288000.1,
NP_001158145.1,
NP_001350740.1
|
| Others |
UniRef100:
UniRef100_Q18PE1,
UniRef100_Q8N1M3
UniRef90:
UniRef90_Q18PE1,
UniRef90_Q8N1M3
UniRef50:
UniRef50_Q8N1M3,
UniRef50_Q18PE1
UniGene:
Hs.122110,
Hs.701584
CCDS:
CCDS54717.1,
CCDS3370.2
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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