| General information of RDP00208 | |
|---|---|
| Gene Symbol: | QKI |
| RefSeq ID: | NM_001301085 |
| Repeat coordinate: | chr6:163415143-163415167 (+) |
| Repeat size: | 8 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.731; 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 |
| Intellectual Disability | NM_001301085 | 0.30 | 1 | 0 | GENOMICS_ENGLAND |
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
163415143
.
CCGG
C
.
6
163415150
.
C
CG
.
6
163415162
.
C
CG
.
6
163415166
rs374822775
G
T
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
163415143
rs760891027
CCGGCGGCGG
CCGGCGG,CCGGCGGCGGCGG,CCGGCGGCGGCGGCGG,CCGG,CCGGCGGCGGCGGCGGCGG,C
2377137.05
6
163415144
rs781142523
C
T
1698512.17
6
163415146
rs756714842
G
GCGT
1669684.10
6
163415147
.
C
T
77074.44
6
163415153
.
C
T
7377.42
6
163415159
.
C
T
164.70
6
163415160
.
GGC
TGC,G
665.13
6
163415166
rs374822775
G
T,C
2105.51
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
163415143
rs760891027
CCGGCGGCGGCGG
CCGGCGGCGG,CCGGCGGCGGCGGCGG,CCGGCGGCGGCGGCGGCGGCGG,CCGGCGGCGGCGGCGGCGG,CCGG,C
257061.70
6
163415159
.
C
T
428.46
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
163415143
rs752519245
CCGG
C
.
6
163415143
rs763913542
CCGGCGG
C
.
6
163415143
rs751570501
CCGGCGGCGG
CCGG,CCGGCGG,CCGGCGGCGGCGG,CCGGCGGCGGCGGCGG,CCGGCGGCGGCGGCGGCGG,C
.
6
163415144
rs781142523
C
T
.
6
163415146
rs756714842
G
GCGT
.
6
163415150
.
C
CG
.
6
163415156
.
C
A
.
6
163415166
rs374822775
G
C,T
.