| General information of RDP00219 | |
|---|---|
| Gene Symbol: | ZNF713 |
| RefSeq ID: | NM_182633 |
| Repeat coordinate: | chr7:55887601-55887637 (+) |
| Repeat size: | 12 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.018; 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 |
| Autistic Disorder | NM_182633 | 0.30 | 1 | 0 | GENOMICS_ENGLAND |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
7
55887597
.
CACCGCGGCG
C
551.97
7
55887600
rs369789359
CGCGGCGGCGGCGGCGGCG
C,CGCGGCG,CGCGGCGGCGGCGGCG,CGCGGCGGCGGCG,CGCGGCGGCGGCGGCGGCGGCGGCG,CGCGGCGGCGGCGGCGGCGGCGGCGGCG
10093870.07
7
55887604
.
G
T
6975766.76
7
55887605
rs529019131
C
A
6974319.18
7
55887607
.
G
A
5075838.59
7
55887609
.
G
A
5053941.35
7
55887610
.
G
T
5004583.81
7
55887622
.
G
T
23097.37
7
55887623
.
C
CA
22823.87
7
55887624
.
G
A
22913.75
7
55887625
.
G
GCGT,GCGGCGA,GCGGCGGCGGCGGCGGCGGCGT
3554.68
7
55887628
.
G
T
2485.36
7
55887630
.
G
A
1101.72
7
55887631
.
G
GCGGCGGCGGCGGCGGCGGCGGCGC
114
7
55887632
.
CGGCGGCGTCAGGG
C
158.80
7
55887634
rs768612045
G
T,GCGT
1751464.43
7
55887637
.
G
GCGGCGGCGGCGGCGT
432.89
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
7
55887588
.
TCCCGGGTCCACCGCGGCGGCGGCG
GCCCGGGTCCACCGCGGCGGCGGCG
.
7
55887600
rs369789359
CGCG
C,CGCGGCGGCG
.
7
55887600
rs765267012
CGCGGCG
C,CGCG,CGCGGCGGCG,CGCGGCGGCGGCG
.
7
55887600
rs777225942
CGCGGCGGCGGCG
C,CGCGGCG,CGCGGCGGCG,CGCGGCGGCGGCGGCG,CGCGGCGGCGGCGGCGGCG
.
7
55887600
rs781314585
CGCGGCGGCGGCGGCGGCG
C,CGCGGCG,CGCGGCGGCGGCG,CGCGGCGGCGGCGGCG
.
7
55887601
.
GCGGCGGCG
GCG
.
7
55887603
.
GGCGGCGGCGGCGGCGGCGGCGGCGGCG
GGCGGCGGCG
.
7
55887605
rs529019131
C
A
.
7
55887623
.
CGGCGGCGGCGG
CGGCGT
.
7
55887625
.
GCGGCGGCGG
GCGGCGGCGT,T
.
7
55887626
.
C
G
.
7
55887627
.
GGCGGCGGCGG
GTCGG
.
7
55887628
.
G
T
.
7
55887629
.
CGGCGG
CGGCGT
.
7
55887629
.
C
CA
.
7
55887630
.
G
A
.
7
55887631
.
GCGG
GCGT
.
7
55887634
rs768612045
G
T
.