| General information of RDP00298 | |
|---|---|
| Gene Symbol: | NKX2-3 |
| RefSeq ID: | NM_145285 |
| Repeat coordinate: | chr10:99535519-99535540 (+) |
| Repeat size: | 7 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.457; 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 |
| IIeocolitis | NM_145285 | 0.30 | 3 | 0 | CTD_human |
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
99535434
.
TCGGCCGCGGCCGCCGCCGCCGCCGCCGCCGCCGCCGCAGCAGCGGCGGCCTACAGCAGCAGCTATGGCTGTGCGTACCCGGCGGGCGGCGGCGG
T,TCGG,TCGGCGG,CCGGCCGCGGCCGCCGCCGCCGCCGCCGCCGCCGCCGCAGCAGCGGCGGCCTACAGCAGCAGCTATGGCTGTGCGTACCCGGCGGGCGGCGGCGG
10652.97
10
99535452
.
GCCGCCGCCGCCGCCGCCGCAGCAGCGGCGGCCTACAGCAGCAGCTATGGCTGTGCGTACCCGGCGGGCGGCGGCGGCGGCGGCGGCGGGACCT
G,TCCGCCGCCGCCGCCGCCGCAGCAGCGGCGGCCTACAGCAGCAGCTATGGCTGTGCGTACCCGGCGGGCGGCGGCGGCGGCGGCGGCGGGACCT
57169.05
10
99535455
.
GCCGCCGCCGCCGCCGCAGCAGCGGCGGCCTACAGCAGCAGCTATGGCTGTGCGTACCCGGCGGGCGGCGGCGGCGGCGGCGGCGGGACCT
G
23578
10
99535517
rs751487317
GGGCGGCGGC
GGGCGGC,GGGC,G,GGGCGGCGGCGGC
346642.35
10
99535520
.
C
T
278138.78
10
99535523
.
C
T
33082.24
10
99535529
.
C
A
2252.29
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
99535517
rs751487317
GGGCGGCGGC
GGGCGGC,G,GGGCGGCGGCGGC,GGGC
101686.24
10
99535520
.
CG
TG,C
88246.23
10
99535523
.
CGG
C
49742.37
10
99535529
.
C
A
131.68
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
99535517
rs779308945
GGGC
G
.
10
99535517
rs757212891
GGGCGGCGGC
G,GGGCGGC,GGGCGGCGGCGGC
.
10
99535520
.
C
CG
.
10
99535523
.
C
CG
.
10
99535525
.
G
GC
.
10
99535528
.
G
GC
.
10
99535532
.
C
G
.