| General information of RDP00348 | |
|---|---|
| Gene Symbol: | FAM83D |
| RefSeq ID: | NM_030919 |
| Repeat coordinate: | chr20:38926680-38926698 (+) |
| Repeat size: | 6 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.010; 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 DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Liver carcinoma | NM_030919 | 0.32 | 1 | 0 | CTD_human |
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
20
38926679
~rs78031534
CGCG
CGCGGCG,C
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
20
38926673
.
GGAGGGCGCGGCGGCGGCGGCGGCGGCCGAGGACTCGTTCGGC
G
151.29
20
38926679
rs777287733
CGCGGCGGCG
CGCGGCGGCGGCG,CGCGGCG,CGCGGCGGCGGCGGCG,CGCG,C,CGCGGCGGCGGCGGCGGCG
5125291.88
20
38926687
.
C
T
4458.22
20
38926691
.
G
C
429.31
20
38926693
.
C
T
329.29
20
38926694
rs753880108
G
A
234.64
20
38926696
.
C
T,A
656.66
20
38926697
.
G
T
465.60
20
38926698
.
G
A
514.94
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
20
38926679
rs777287733
CGCG
CGCGGCG,C,CGCGGCGGCG,CGCGGCGGCGGCG
2000908.88
20
38926695
.
G
GCGA
178.47
20
38926698
.
G
A,GCGA
1667.72
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
20
38926677
.
GGCGCGGCGGCGGCGGCGGCGGCC
GGCGCGGCGGCGGCGGCGGCC
.
20
38926679
.
CGCG
C
.
20
38926679
rs570408132
CGCG
C,CGCGGCG,CGCGGCGGCG
.
20
38926679
rs775472518
CGCGGCG
C,CGCG,CGCGGCGGCG,CGCGGCGGCGGCG
.
20
38926688
rs763792256
G
A
.
20
38926694
rs753880108
G
A
.