| Type | Description |
|---|---|
| Definition | pogo transposable element derived with ZNF domain |
| Date | Results | Publications |
|---|---|---|
| 2021-01-02 12:51:00 | Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). | 31782611 |
| 2020-06-27 10:52:00 | the important roles of rare inherited missense variants of POGZ in ASD risk and neuronal development | 31196716 |
| 2020-05-30 13:13:00 | De novo likely gene-disrupting variants of POGZ cause autism spectrum disorder (ASD) and intellectual disability. | 31347273 |
| 2017-04-01 11:55:00 | In silico analysis and western blotting revealed this frameshift mutation generating truncated protein in peripheral blood lymphocytes, and this may disrupt several important domains of POGZ gene. Our finding broadens the spectrum of POGZ mutations and may help to understand the molecular basis of Intellectual disability (ID) and aid genetic counseling. | 26763879 |
| 2016-10-22 12:17:00 | Data suggest that loss of function variants in POGZ lead to an identifiable syndrome of neurodevelopmental disorders with specific phenotypic traits including intellectual disability. | 26739615 |
| Type | IDs |
|---|---|
| Synonymous | MRD37, WHSUS, ZNF280E, ZNF635, ZNF635m |
| Gene |
UniProtKB-ID:
POGZ_HUMAN
UniprotKB:
Q7Z3K3
UniParc:
UPI000013FA4A,
UPI0001881B32,
UPI0001DF1F5C,
UPI00001D62AC,
UPI0000204246,
UPI000035895F,
UPI0000456256
EMBL:
AK302501,
BX537838,
AL589764,
AK300307,
AB007930,
AJ242979,
AB075477,
BC057773,
CH471121,
AB037911
Ensembl:
ENSG00000143442
KO:
hsa:23126
|
| Nucleutide sequences |
EMBL-CDS:
BAA32306.1,
BAB87117.1,
CAB45136.1,
CAD97850.1,
BAG63781.1,
BAE45744.1,
EAW53440.1,
BAG62060.1,
AAH57773.1
Gene_ORFName:
Nbla00003
Ensembl_TRS:
ENST00000392723,
ENST00000271715,
ENST00000368863,
ENST00000491586,
ENST00000409503,
ENST00000531094
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000418408,
ENSP00000386836,
ENSP00000376484,
ENSP00000357856,
ENSP00000271715,
ENSP00000431259
RefSeq:
NP_055915.2,
XP_016856238.1,
XP_016856235.1,
NP_001181867.1,
XP_005245056.1,
XP_016856233.1,
XP_016856234.1,
XP_005245062.1,
XP_024310074.1,
XP_005245063.1,
XP_024310073.1,
XP_016856237.1,
NP_997054.1,
NP_665739.3,
XP_005245058.1,
XP_005245057.1,
NP_001181866.1
|
| Others |
UniRef100:
UniRef100_Q7Z3K3
UniRef90:
UniRef90_Q7Z3K3
UniRef50:
UniRef50_Q7Z3K3
UniGene:
Hs.489873
CCDS:
CCDS44222.2,
CCDS53366.1,
CCDS53365.1,
CCDS997.1,
CCDS998.1
|
| {{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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