| General information of RDP00148 | |
|---|---|
| Gene Symbol: | PWWP3A |
| RefSeq ID: | NM_032853 |
| Repeat coordinate: | chr19:1354985-1355009 (+) |
| Repeat size: | 8 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.154; 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 ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
1354984
rs371221738
AGCGGCG
AGCG,AGCGGCGGCG,A,AGCGGCGGCGGCG
154232.43
19
1354990
.
G
A
1318.12
19
1355007
.
C
T
2101.28
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
1354984
rs371221738
AGCGGCG
AGCG,AGCGGCGGCG,AGCGGCGGCGGCG,A,AGCGGCGGCGGCGGCG,AGCGGCGGCGGCGGCGGCG
8209725.47
19
1354987
.
G
A,GGCA
7970311.42
19
1354989
.
C
T
27005.13
19
1354992
.
CGGCGGCGGCGGCGGCGGTGGCGGA
TGGCGGCGGCGGCGGCGGTGGCGGA,C,CGGCGGA
22556.96
19
1354993
.
G
T
3816.21
19
1354998
.
CGGCGGCGGCGGT
C
2086.66
19
1355001
.
CGGCGGCGGTGGCGGA
CGGCGGTGGCGGAGGCGGCGGTGGCGGA,C
3295.57
19
1355002
.
G
GGCT
2869.63
19
1355004
rs761277194
CGGCGGTGGCGGA
CGGCGGTGGCGGTGGCGGA,CGGCGGCGGCGGTGGCGGTGGCGGA,C,AGGCGGTGGCGGA,CGGTGGCGGAGGCGGTGGCGGA
5575.18
19
1355006
.
G
A
3327.97
19
1355007
.
CGGT
C
5104.41
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
1354981
.
GGGAGCGGCG
GGGAGCG
.
19
1354982
.
GGAGCG
GGA
.
19
1354983
.
GAGCG
GA
.
19
1354984
.
AGCG
A
.
19
1354984
.
AGCGGCG
AGCG
.
19
1354984
rs371221738
AGCG
A,AGCGGCG,AGCGGCGGCG
.
19
1354984
.
AGCGGCG
A,AGCG
.
19
1354985
.
GCGG
G
.
19
1354985
.
GCGGC
GC
.
19
1354985
.
GCGGCGGCGGCGGCGGC
GCGGCGGCGGCGGC
.
19
1354991
.
G
GC
.
19
1354995
.
C
G
.
19
1354998
.
C
A
.
19
1355001
.
CGGCGG
A
.
19
1355004
rs761277194
CGGCGGTGGCGGA
C
.