| General information of RDP00374 | |
|---|---|
| Gene Symbol: | COPS6 |
| RefSeq ID: | NM_006833 |
| Repeat coordinate: | chr7:100088994-100089012 (+) |
| Repeat size: | 6 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.875; 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 |
| HIV Coinfection | NM_006833 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
44002772
~rs79668397
G
GC
.
7
100088992
.
TGGC
T
.
7
100088995
rs374716476
C
T
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
44002766
rs778896183
CGCGGCGGCGGCGGCG
CGCGGCGGCG,CGCGGCGGCGGCGGCGGCG,CGCGGCGGCGGCG,CGCGGCGGCGGCGGCGGCGGCG,C,CGCGGCG
4630399.89
6
44002768
.
CG
C
3338240.75
6
44002769
rs759830659
G
A
3241172.34
6
44002771
rs765565822
C
T
2576555.93
6
44002772
.
G
A
2574224.03
6
44002773
rs775564897
G
C
304507.35
6
44002778
rs763143047
GGC
AGC,G
131983.97
6
44002779
rs764050275
G
A
94792.64
6
44002780
rs751651293
C
T,A
94221.87
6
44002781
.
G
A
93360.32
6
44002783
.
C
G,A
1350.52
6
44002784
rs533821272
G
A
12842.19
6
44002786
rs750309395
C
T
371.81
6
44002788
rs755847593
G
A
175.70
6
44002791
rs779804974
G
T
949.64
6
44002792
.
C
G
327.86
6
44002793
.
G
GGC,A
1236.50
6
44002794
rs771454938
G
A,GCGGC
3749.03
7
100088992
rs571882095
TGGC
T,TGGCGGCGGC,TGGCGGC,TGGCGGCGGCGGC,TGGCGGCGGCGGCGGC
175258.56
7
100088995
rs374716476
C
T
25005.82
7
100089005
rs554226642
G
GGCGGCGGCGGCGGCT
2667.08
7
100089007
.
C
T
116.57
7
100089008
rs576209115
G
GGCGGCTGCA,A
805.24
7
100089010
.
C
T
293.48
7
100089011
.
G
T
202.20
7
100089012
.
G
A
134.79
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
44002766
rs778896183
CGCGGCGGCGGCGGCG
CGCGGCGGCG,CGCGGCGGCGGCGGCGGCGGCG,CGCGGCGGCGGCGGCGGCG,CGCGGCG,CGCGGCGGCGGCG,C
3077554.92
6
44002768
.
C
A
1250081.22
6
44002774
.
C
A
147931.04
6
44002783
.
C
G
128.49
6
44002784
rs533821272
G
A
1237.84
6
44002789
.
C
A
152.59
6
44002793
.
G
A
194.89
6
44002794
rs771454938
G
A
924.16
7
100088992
rs571882095
TGGC
TGGCGGC,TGGCGGCGGC,T,TGGCGGCGGCGGC,TGGCGGCGGCGGCGGC
91293.26
7
100089005
rs554226642
G
GGCGGCGGCGGCGGCT
1196.40
7
100089008
rs576209115
G
GGCGGCGGCGGCT
608.46
7
100089010
.
C
T
263.46
7
100089011
.
G
GGCT
957.46
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
44002766
rs571541469
CGCG
C,CGCGGCG
.
6
44002766
rs755059764
CGCGGCG
C,CGCGGCGGCG,CGCGGCGGCGGCG
.
6
44002766
rs778441455
CGCGGCGGCG
C
.
6
44002766
rs747313073
CGCGGCGGCGGCGGCG
C,CGCGGCG,CGCGGCGGCG,CGCGGCGGCGGCG,CGCGGCGGCGGCGGCGGCG,CGCGGCGGCGGCGGCGGCGGCG,CGCGGCGGCGGCGGCGGCGGCGGCG
.
6
44002769
rs759830659
G
A
.
6
44002771
rs765565822
C
T
.
6
44002771
.
C
CG
.
6
44002773
rs775564897
G
C
.
6
44002776
.
G
GC
.
6
44002778
rs763143047
G
A
.
6
44002779
rs764050275
G
A
.
6
44002780
rs751651293
C
A,T
.
6
44002782
.
G
C
.
6
44002783
.
C
A
.
6
44002784
rs533821272
G
A
.
6
44002786
rs750309395
C
T
.
6
44002788
rs755847593
G
A
.
6
44002791
rs779804974
G
A
.
6
44002794
rs748857617
G
A
.
6
44002794
rs771454938
G
GCGGC
.
7
100088992
.
TGGC
T
.
7
100088992
rs769644738
TGGC
T,TGGCGGC,TGGCGGCGGC
.
7
100088995
rs374716476
C
T
.
7
100088995
.
C
CG
.
7
100089001
.
C
CG
.
7
100089005
rs554226642
G
T
.
7
100089005
rs768124617
G
GGCGGCGGCGGCGGCT
.
7
100089006
rs777015230
G
T
.
7
100089008
rs576209115
G
A
.