| General information of RDP00002 | |
|---|---|
| Gene Symbol: | POU3F3 |
| RefSeq ID: | NM_006236 |
| Repeat coordinate: | chr2:104857088-104857115 (+) |
| Repeat size: | 9 |
| Repeat region: | 3' UTR |
| Repeat unit: | CCG |
| Repeat conservation: | PhastCons_score: 0.019; 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 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 gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
104857073
.
ACCGCCGCCGCCCCTGCCGCCGCCGCCG
ACCGCCGCCGCCCCTGCCGCCGCCGCCGCCGCCCCTGCCGCCGCCGCCG,A
2070.95
2
104857087
.
TGCCGCCGCCGCC
TGCCGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCC,TGCC,TGCCGCCGCC,T,TGCCGCCGCCGCCGCCGCCGCCGCCGCC
96494.63
2
104857090
.
CGCCGCCGCCGCCGCCGCCGCCGCCGCT
C,CGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCT
42726.87
2
104857093
.
C
CGCCGCCGCCGCCGCCGCCGCCGCT
34536.17
2
104857096
.
CGCCGCCGCCGCCGCCGCCGCT
C
35011.27
2
104857097
.
G
C
9239.25
2
104857098
.
C
G
9152.84
2
104857099
rs771781140
CGCCGCCGCCGCCGCCGCT
TGCCGCCGCCGCCGCCGCT,C
34359.62
2
104857102
.
C
T,CGCCGCCGCCGCCGCT
8958.24
2
104857104
.
C
T
5281
2
104857105
.
CGCCGCCGCCGCT
C,CGCCGCCGCCGCTGCCGCCGCCGCT
8933.31
2
104857107
.
C
G
9459.29
2
104857108
.
CGCCGCCGCT
C
8752.60
2
104857114
.
CGCT
C,GGCT
9644.26
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
104857087
.
TGCC
T
.
2
104857087
.
TGCCGCCGCC
T
.
2
104857094
.
GCCGCC
GCCGCT
.
2
104857097
.
GCC
GCT
.
2
104857099
rs771781140
C
T
.
2
104857114
.
CGCT
C
.