| General information of RDP00214 | |
|---|---|
| Gene Symbol: | HIPK2 |
| RefSeq ID: | NM_001113239 |
| Repeat coordinate: | chr7:139777807-139777828 (-) |
| Repeat size: | 7 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.001; 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 |
| Gastrointestinal Stromal Sarcoma | NM_001113239 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
7
139777798
.
GCCGGGCGCGCCGCCGCCGCCGCCGCCGCCGCTGCCGC
G
287.79
7
139777805
.
GCGCCGCCGCCGC
GCGC,GCGCCGCCGCCGCCGCCGC,GCGCCGCCGCCGCCGCCGCCGC,GCGCCGCCGCCGCCGC,G
176703.07
7
139777809
.
C
T
66987.65
7
139777816
.
G
A
1519.21
7
139777821
.
CGCCGCCGCT
C
714.35
7
139777825
.
G
A
858.07
7
139777827
.
C
T
1285.52
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
7
139777805
.
GCGCCGCCGC
G
.