| General information of RDP00072 | |
|---|---|
| Gene Symbol: | BRSK2 |
| RefSeq ID: | NM_001256627 |
| Repeat coordinate: | chr11:1390000-1390027 (+) |
| Repeat size: | 9 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.032; 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_001256627 | 0.30 | 1 | 0 | GENOMICS_ENGLAND |
| Mapping repeat track to 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
11
1390000
.
TCGG
T
100
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
11
1390000
rs34937681
TCGGCGGCGG
TCGGCGG,TCGGCGGCGGCGGCGG,TCGGCGGCGGCGG,TCGGCGGCGGCGGCGGCGG,T,TCGG
704630.36
11
1390019
.
C
A
2125.79
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
11
1390000
rs3081415
TCGG
T
.