| General information of RDP00369 | |
|---|---|
| Gene Symbol: | HDGFL1 |
| RefSeq ID: | NM_138574 |
| Repeat coordinate: | chr6:22570119-22570137 (+) |
| Repeat size: | 6 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.002; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | AAAAA |
| Gene expression and GO annotation: | BioGPS |
| Protein expression: | Human Protein Altas |
| Gene conservation: | Gene Conservation from UCSC Genome Browser |
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
22570117
.
GGGCGGC
GGGCGGCGGC,G,GGGC
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
22570099
rs774394045
GGGCGGCGGAAGCGGAGAGGGCGGC
GGGCGGCGGAAGCGGAGAGGGCGGCGGCGGAAGCGGAGAGGGCGGC,GGGCGGCGGAAGCGGAGAGGGCGGCGGCGGCGGCGGCGGAAGCGGAGAGGGCGGC,GGGC,G
189517.47
6
22570117
rs536582109
GGGCGGCGGCGGC
GGGCGGCGGCGGCGGC,GGGCGGCGGC,GGGCGGCGGCGGCGGCGGC,GGGCGGC,GGGC,G
3613508.89
6
22570121
.
G
A
42596.20
6
22570123
rs771967817
C
T
43378.96
6
22570124
.
G
GGAA
32123.11
6
22570125
.
G
A
31367.09
6
22570126
rs773320174
C
T,A
32601.47
6
22570127
rs760681436
GGCGGC
G,GGAAGCGGC,AGCGGC
17578.96
6
22570128
.
G
GAGA,T
15326.46
6
22570129
rs771189035
C
A,CGGAGAG,G
17381.41
6
22570130
rs776583365
G
A
535
6
22570131
rs761738335
GCGGCGGCGA
ACGGCGGCGA,GAGACGGCGGCGA,G
3409.71
6
22570132
rs759624552
C
G,A
3035.23
6
22570133
rs765403858
G
GAA,A,T
2891.76
6
22570134
rs767413076
G
A,GCGGCGA
3507.51
6
22570135
.
C
CGGAAGCGGAGAG,G,A
4639.51
6
22570136
.
G
A
1964.28
6
22570137
rs750440130
G
GCGACGGCCGT,T,GCGA
6166.50
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
22570117
rs536582109
GGGCGGCGGC
GGGCGGCGGCGGC,GGGCGGC,G,GGGCGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGCGGC,GGGC
759438.68
6
22570123
rs771967817
C
T
7061.51
6
22570131
rs761738335
GCGGCGGCGA
G,ACGGCGGCGA
854.44
6
22570134
rs767413076
G
GCGGCGA
1586.55
6
22570137
rs750440130
G
GCGACGGCCGT,A
3918.06
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
22570117
rs751535761
GGGC
G
.
6
22570117
rs762332928
GGGCGGC
G
.
6
22570117
rs761158384
GGGCGGCGGC
G
.
6
22570117
rs773775705
GGGCGGCGGCGGC
G,GGGC,GGGCGGC,GGGCGGCGGC,GGGCGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGC
.
6
22570120
rs747915207
C
T
.
6
22570122
rs763832594
G
GCGA
.
6
22570123
rs771967817
C
T
.
6
22570126
rs773320174
C
T
.
6
22570127
rs760681436
G
A
.
6
22570127
rs751147603
G
GGAA
.
6
22570128
.
G
A
.
6
22570129
rs771189035
C
A
.
6
22570130
rs776583365
G
A
.
6
22570131
rs761738335
GCGGCGGCGA
G
.
6
22570132
rs759624552
C
G
.
6
22570133
rs765403858
G
T
.
6
22570134
rs767413076
G
GCGGCGA
.
6
22570137
rs750440130
G
GCGACGGCCGT
.