| General information of RDP00188 | |
|---|---|
| Gene Symbol: | PPP3CA |
| RefSeq ID: | NM_000944 |
| Repeat coordinate: | chr4:101346879-101346903 (-) |
| Repeat size: | 8 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.917; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | - |
| Gene expression and GO annotation: | BioGPS |
| Protein expression: | Human Protein Altas |
| Gene conservation: | Gene Conservation from UCSC Genome Browser |
| Mapping repeat track to OMIM: | ||
|---|---|---|
| Phenotype | OMIM_id | Location |
| Epileptic encephalopathy, infantile or early childhood, 1, 617711 (3) | 114105 | 4q24 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT | NM_000944 | 0.40 | 1 | 2 | UNIPROT |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
4
101346877
rs546755954
ACGC
ACGCCGCCGC,ACGCCGC,A,ACGCCGCCGCCGCCGC,ACGCCGCCGCCGC,ACAACGCCGC
7548680.94
4
101346880
.
C
CCGCCGT
36886.78
4
101346881
.
C
CGCCGCT
18104.76
4
101346886
.
C
T
16848.97
4
101346889
.
C
A
1169.15
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
4
101346877
.
ACGC
A
.
4
101346877
.
ACGCCGC
A
.
4
101346877
.
ACGCCGCCGCCGC
A
.
4
101346900
.
G
C
.