| General information of RDP00076 | |
|---|---|
| Gene Symbol: | C11orf80 |
| RefSeq ID: | NM_001302084 |
| Repeat coordinate: | chr11:66744821-66744845 (+) |
| Repeat size: | 8 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.005; 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 |
| Complete hydatidiform mole | NM_001302084 | 0.30 | 1 | 0 | ORPHANET |
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
11
66744843
~rs71045961
CG
C
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
11
66744819
rs567536854
GGGC
GGGCGGC,GGGCGGCGGC,G,GGGCGGCGGCGGCGGC,GGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGC
12168690.65
11
66744822
rs777651416
C
G
83359.39
11
66744824
.
G
GCGGCGGCGC
16604.97
11
66744825
.
C
CGGT
18763.29
11
66744826
.
G
GGCT
11461.80
11
66744828
.
C
CGGT
12467.92
11
66744831
rs746642276
C
CGGT
10428.22
11
66744832
.
G
GGCA
8155.44
11
66744834
.
C
CGGT,CGGCGGT
8846.82
11
66744837
.
C
CGGT,CGGCGGT
8027.14
11
66744839
.
G
GCGT
6851.37
11
66744840
.
C
CGGT,CGGCGGT
8349.97
11
66744842
.
G
GCGGCGT
7317.76
11
66744843
.
C
CGGT,CGGCGGT
11339.39
11
66744844
rs777851038
G
GGC
19309.58
11
66744845
.
G
GCGA
16523.79
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
11
66744822
rs777651416
C
G
24620.07
11
66744824
.
G
GCGT
15816.96
11
66744832
.
G
GGCT
413.25
11
66744840
.
C
T,CG,CGGCGGCG
2481.70
11
66744843
.
C
CGGCGGG
320.67
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
11
66744819
.
GGGC
G,GGGCGGC
.
11
66744819
.
GGGCGGCGGC
G,GGGCGGCGGCGGCGGC
.
11
66744822
rs777651416
C
G
.
11
66744831
rs746642276
C
A
.
11
66744836
rs558087148
G
T
.
11
66744844
rs777851038
G
GGCC,GGCGGCC
.