| General information of RDP00337 | |
|---|---|
| Gene Symbol: | POU3F3 |
| RefSeq ID: | NM_006236 |
| Repeat coordinate: | chr2:104855614-104855632 (+) |
| Repeat size: | 6 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.028; 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 ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
104855612
rs547848317
TGGC
T,GGGC
39158.68
2
104855615
rs566074819
C
T
8115.99
2
104855630
rs868353338
C
G
4914.39
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
104855612
rs547848317
TGGCGGCGGCGGCGGCGGCGGGGGC
TGGCGGCGGCGGCGGCGGCGGCGGGGGC,TGGC,TGGCGGCGGCGGCGGGGGC,TGGCGGCGGCGGCGGCGGGGGC,T,TGGCGGCGGCGGCGGCGGCGGCGGCGGGGGC
24860.92
2
104855624
.
CGGCGGCGGG
C
1318.35
2
104855627
.
CGGCGGGGGCGGCGCAGGG
AGGCGGGGGCGGCGCAGGG,C
2943.83
2
104855630
rs868353338
C
CGGG
5531.59
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
104855612
rs752143982
TGGCGGCGGCGGCGGCGGCGGGGGC
T
.
2
104855615
rs566074819
C
G
.