| Type | Description |
|---|---|
| Definition | proteasome 26S subunit, non-ATPase 12 |
| Date | Results | Publications |
|---|---|---|
| 2019-09-28 11:08:00 | We performed WES on six affected siblings from a multiplex family with ID and autistic features. We identified an inherited heterozygous nonsense mutation in PSMD12 (NM_002816: c.367C>T: p.R123X) in the multiplex family and a de novo nonsense mutation in the same gene (NM_002816: c.601C>T: p.R201X) in the simplex family. | 30421579 |
| 2017-05-06 20:26:00 | we identified six de novo genomic deletions and four de novo point mutations in unrelated individuals with intellectual disability, congenital malformations, ophthalmologic anomalies, feeding difficulties, deafness, and subtle dysmorphic facial features | 28132691 |
| Type | IDs |
|---|---|
| Synonymous | Rpn5, STISS, p55 |
| Gene |
UniProtKB-ID:
PSD12_HUMAN,
A0A0S2Z489_HUMAN
UniprotKB:
O00232,
A0A0S2Z489
UniParc:
UPI0000132792,
UPI0000167F8C
EMBL:
AK222679,
CH471099,
BC019062,
AB003103,
BC065826,
AK091198,
KU178288,
AC110921
Ensembl:
ENSG00000197170
KO:
hsa:5718
|
| Nucleutide sequences |
EMBL-CDS:
BAD96399.1,
AAH19062.1,
BAA19749.1,
EAW89028.1,
AAH65826.1,
BAG52303.1,
EAW89026.1,
ALQ33746.1
Gene_ORFName:
hCG_1749256
Ensembl_TRS:
ENST00000357146,
ENST00000356126
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000348442,
ENSP00000349667
RefSeq:
NP_777360.1,
NP_002807.1,
NP_001303270.1,
XP_024306611.1,
XP_024306610.1
|
| Others |
UniRef100:
UniRef100_O00232
UniRef90:
UniRef90_O00232
UniRef50:
UniRef50_O00232
UniGene:
Hs.592689
CCDS:
CCDS11669.1,
CCDS11670.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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