| General information of RDP00087 | |
|---|---|
| Gene Symbol: | CPSF6 |
| RefSeq ID: | NM_001300947 |
| Repeat coordinate: | chr12:69239612-69239630 (+) |
| Repeat size: | 6 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.998; 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 ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
69239610
.
AGGCGGCGGC
A,AGGCGGCGGCGGC,AGGCGGC
.
12
69239613
rs367612178
C
T
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
69239598
rs758267057
CAGACCTGCAGGAGGCGGCGGCGGCGGCGGCGGCCG
TAGACCTGCAGGAGGCGGCGGCGGCGGCGGCGGCCG,AAGACCTGCAGGAGGCGGCGGCGGCGGCGGCGGCCG,C
10343.08
12
69239610
rs574075893
AGGCGGCGGC
AGGCGGC,AGGCGGCGGCGGCGGC,AGGCGGCGGCGGC,AGGCGGCGGCGGCGGCGGC,A,AGGC
669929.15
12
69239613
rs367612178
CG
AG,TG,C
1326827.08
12
69239614
.
G
A
45037.61
12
69239615
.
G
A
44617.70
12
69239616
rs773357266
C
T
46707.02
12
69239618
.
G
A
32638.65
12
69239619
rs763583288
C
T,G,A
34320.19
12
69239622
.
C
T,G
6583.54
12
69239623
rs766943178
G
T
4204.62
12
69239625
.
C
T
4002.26
12
69239626
rs772743005
G
A,GGCGGCC
5454.06
12
69239627
rs776102770
G
A,GCGT
4924.60
12
69239628
rs761146017
C
CGGCCGA
3913.81
12
69239629
rs542620474
G
A,C
5577.32
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
69239589
.
CGCGGCGGGCAGACCTGCAGGAGGCGGCGGCGGCG
TGCGGCGGGCAGACCTGCAGGAGGCGGCGGCGGCG,C
909.43
12
69239610
rs574075893
AGGCGGCGGC
AGGCGGC,AGGCGGCGGCGGCGGC,AGGCGGCGGCGGC,AGGCGGCGGCGGCGGCGGC,A
98382.24
12
69239613
rs367612178
C
T,A
226416.30
12
69239616
rs773357266
C
T
3456.69
12
69239623
rs766943178
G
T
455.47
12
69239626
rs772743005
G
GGCGGCC
1073.67
12
69239627
rs776102770
G
A
382.47
12
69239629
rs542620474
G
C
347.52
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
69239599
.
AGACCTGCAGGAGGC
AGACCTGCAGGAGGT,GGACCTGCAGGAGGC
.
12
69239610
rs781087927
AGGC
A,AGGCGGC,AGGCGGCGGCGGC
.
12
69239610
rs771050841
AGGCGGC
A
.
12
69239610
rs777871200
AGGCGGCGGC
A,AGGC,AGGCGGC,AGGCGGCGGCGGC,AGGCGGCGGCGGCGGC,AGGCGGCGGCGGCGGCGGC
.
12
69239613
rs367612178
C
A,T
.
12
69239613
rs779103541
C
CGGG
.
12
69239613
rs745917995
CG
C
.
12
69239616
rs773357266
C
T
.
12
69239619
rs763583288
C
T
.
12
69239623
rs766943178
G
T
.
12
69239626
rs772743005
G
GGCGGCC
.
12
69239627
rs774899173
G
A,GCGT
.
12
69239627
rs776102770
G
GCGT
.
12
69239628
rs761146017
C
CGGCCGA,CG
.
12
69239629
rs542620474
G
C,T
.