| General information of RDP00338 | |
|---|---|
| Gene Symbol: | POU3F3 |
| RefSeq ID: | NM_006236 |
| Repeat coordinate: | chr2:104856229-104856247 (+) |
| Repeat size: | 6 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.590; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | GGGGG |
| Gene expression and GO annotation: | BioGPS |
| Protein expression: | Human Protein Altas |
| Gene conservation: | Gene Conservation from UCSC Genome Browser |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 | NM_006236 | 0.30 | 1 | 0 | GENOMICS_ENGLAND |
| Mapping repeat track to 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
104856229
.
CCGG
C
100
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
104856229
rs542802090
CCGGCGGCGG
CCGGCGG,CCGG,CCGGCGGCGGCGG,C
116740.92
2
104856239
.
C
A
3878.91
2
104856242
.
CG
C
370.77
2
104856245
.
C
T
364.22
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
104856229
rs542802090
CCGG
C,CCGGCGG,CCGGCGGCGG
5993.99
2
104856230
.
C
G
3432.96
2
104856245
.
C
T
274.50
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
104856229
rs542802090
CCGG
C
.
2
104856229
rs763616750
CCGGCGGCGG
C
.
2
104856232
.
G
GC
.
2
104856233
.
C
CG
.
2
104856236
.
C
G
.
2
104856242
.
C
G
.