| General information of RDP00427 | |
|---|---|
| Gene Symbol: | CASZ1 |
| RefSeq ID: | NM_001079843 |
| Repeat coordinate: | chr1:10694584-10694620 (-) |
| Repeat size: | 12 |
| Repeat region: | intron |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.044; 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 |
| familial atrial fibrillation | NM_001079843 | 0.30 | 2 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
10694582
.
GCCCCGC
G
151.44
1
10694584
.
CCCGCCGCCGCCGCCGCCGCCGCCG
CCCGCCGCCGCCGCCGCCGCCG,CCCGCCGCCGCCGCCG,CCCGCCGCCGCCGCCGCCGCCGCCGCCG,CCCGCCGCCGCCGCCGCCG,CCCGCCGCCGCCG,C
3539468.81
1
10694590
.
GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCCGGTGCGCCCGCCCGCCGCCCGCCGCCCGGTGCCGGAGTGAATGGGCTCGCGCTCGCTCGCGCCC
G
1240545.35
1
10694596
.
GCCGCCGCCGCCGCCGCCGCCGCCGCCCGGTGCGCCCGC
G
187729.66
1
10694599
.
G
GCCA
81327.09
1
10694603
.
C
CCGT
75587.91
1
10694605
.
G
GCCC,GCCGCCC
127934.32
1
10694608
.
GCCGCCGCCGCCGCCCGGTGCGCCCGCCCGCCGC
G
70080.94
1
10694614
.
GCCGCCGCCCGGTGCGCCCGCCCGCCGC
GCCGCCGCCGCCCGGTGCGCCCGCCCGCCGCCCGGTGCGCCCGCCCGCCGC,G
2651.31
1
10694620
.
GCCCGGTGCGCCCGC
G
2763.92
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
10694584
.
CCCG
CCCGCCG,C
.
1
10694584
.
CCCGCCG
CCCG,CCCGCCGCCG,C
.
1
10694584
.
CCCGCCGCCG
CCCG,CCCGCCG,CCCGCCGCCGCCG,C
.
1
10694584
.
CCCGCCGCCGCCG
C
.
1
10694605
.
G
GCCC
.