| General information of RDP00328 | |
|---|---|
| Gene Symbol: | HIC1 |
| RefSeq ID: | NM_001098202 |
| Repeat coordinate: | chr17:2057112-2057133 (+) |
| Repeat size: | 7 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.975; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | GGGGGG |
| 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 |
| Mammary Carcinoma, Human | NM_001098202 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
2057110
.
GGGCGGC
G,GGGC
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
2057110
rs773121957
GGGCGGCGGCGGC
GGGCGGCGGC,GGGC,G,GGGCGGC,GGGCGGCGGCGGCGGC
224144.80
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
2057110
rs773121957
GGGCGGCGGCGGC
GGGCGGCGGCGGCGGCGGC,GGGCGGCGGC,GGGCGGCGGCGGCGGC,GGGC,G,GGGCGGC
63311.78
17
2057115
.
G
A
50586.56
17
2057116
.
C
A
50535.65
17
2057132
.
G
A
180.53
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
2057110
.
GGGC
G
.
17
2057110
rs769002012
GGGC
G
.
17
2057110
rs762248690
GGGCGGC
G
.
17
2057110
rs765734838
GGGCGGCGGC
G
.
17
2057110
rs777037529
GGGCGGCGGCGGC
G,GGGC,GGGCGGC,GGGCGGCGGC,GGGCGGCGGCGGCGGC
.
17
2057119
.
C
T
.