| General information of RDP00609 | |
|---|---|
| Gene Symbol: | ZIC5 |
| RefSeq ID: | NR_146224 |
| Repeat coordinate: | chr13:99970415-99970448 (-) |
| Repeat size: | 11 |
| Repeat region: | exon |
| Repeat unit: | CCG |
| Repeat conservation: | PhastCons_score: 0.552; 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 |
| Liver carcinoma | NR_146224 | 0.31 | 1 | 0 | CTD_human |
| Mapping repeat track to ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
13
99970413
403621
TGGC
T
.
13
99970413
252765
TGGCGGCGGCGGCGGCGGC
T
.
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
13
99970413
rs71114653
TGGCGGCGGCGGCGGCGGCGGCGGC
TGGC,T,TGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
13
99970407
rs772644998
GGGCGGTGGCGGCGGCGGCGGCGGCGGC
GGGCGGTGGCGGTGGCGGCGGCGGCGGCGGCGGC,G,AGGCGGTGGCGGCGGCGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGCGGC,CGGCGGTGGCGGCGGCGGCGGCGGCGGC
11132.47
13
99970413
rs752236928
TGGCGGCGGCGGCGGCGGCGGC
T,TGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGC,TGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGC,TGGCGGCGGC
2773089.17
13
99970416
.
C
G,T
2917850.70
13
99970417
.
G
A
1725985.24
13
99970419
rs529577435
C
T
1727371.52
13
99970420
rs763494087
G
T
1589540.29
13
99970422
rs201752549
C
T
2313267.80
13
99970423
rs562789818
GGCGGCGGCGGCGGCGGCGGCGGCGGCA
G
1462359.94
13
99970425
rs751932769
C
T
1465134.64
13
99970426
rs757443436
G
A
1405230.29
13
99970434
.
C
T
1134903.50
13
99970436
rs767829718
G
A
99941.52
13
99970439
.
G
A
45374.32
13
99970441
rs763492783
G
A
29512.42
13
99970444
rs753570337
G
A
6243.93
13
99970446
.
C
T
6333.24
13
99970447
rs756859915
G
A,GGCA
5400.41
13
99970448
.
G
A
3544.51
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
13
99970407
rs772644998
GGGCGGTGGCGGCGGCGGCGGCGGCGGCGGC
GGGCGGTGGCGGTGGCGGCGGCGGCGGCGGCGGCGGC,GGGCGGCGGCGGCGGTGGCGGCGGCGGCGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGCGGC,GGGCGGCGGCGGCGGC,G
3281.50
13
99970413
rs752236928
TGGCGGCGGCGGCGGCGGCGGC
TGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGC,TGGCGGCGGC,TGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGC,T
3462954.85
13
99970416
.
C
CGGT,CGGCGGT
3108424.77
13
99970422
rs201752549
C
T
353959.12
13
99970425
rs751932769
C
T
173562.47
13
99970431
.
C
T
62634.47
13
99970440
.
C
T
61.74
13
99970441
rs763492783
G
GGCGGCA
2148.28
13
99970443
.
C
T
79.32
13
99970444
rs753570337
G
GGCA
606.91
13
99970446
.
C
T
794.28
13
99970447
rs756859915
G
A
286.76
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
13
99970407
rs760765561
GGGCGGTGGCGGCGGC
G
.
13
99970407
rs776959228
GGGCGGTGGCGGCGGCGGCGGCGGCGGC
G
.
13
99970413
rs71114653
TGGC
T,TGGCGGC
.
13
99970413
.
TGGCGGC
T
.
13
99970413
rs759482702
TGGCGGCGGC
T,TGGCGGC
.
13
99970413
rs767376056
TGGCGGCGGCGGC
T,TGGCGGCGGC
.
13
99970413
rs778996938
TGGCGGCGGCGGCGGC
T,TGGCGGCGGCGGC
.
13
99970413
.
TGGCGGCGGCGGCGGCGGC
T
.
13
99970413
rs774118755
TGGCGGCGGCGGCGGCGGCGGC
T,TGGCGGC,TGGCGGCGGC,TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGC
.
13
99970419
rs529577435
C
T
.
13
99970420
rs763494087
G
T
.
13
99970422
rs201752549
C
T
.
13
99970423
rs562789818
G
A
.
13
99970423
rs755603934
GGCGGCGGCGGCGGCGGCGGCGGCGGCA
G
.
13
99970425
rs751932769
C
T
.
13
99970426
rs757443436
G
A
.
13
99970427
.
GC
GCC
.
13
99970427
.
G
GC
.
13
99970434
.
C
T
.
13
99970436
rs767829718
G
A
.
13
99970437
.
C
T
.
13
99970441
rs763492783
G
GGCGGCGGCA
.
13
99970443
.
C
A
.
13
99970444
rs753570337
G
GGCGGCA
.
13
99970447
rs756859915
G
GGCA
.
13
99970448
.
G
A
.