General information of RDP00331
Gene Symbol:CAPNS1
RefSeq ID:NM_001003962
Repeat coordinate:chr19:36141124-36141154 (+)
Repeat size:10
Repeat region:CDS
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.508; Repeat Conservation from UCSC Genome Browser
Amino acid sequence:GGGGGGGGG
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_nameRefSeqScoreNofPmidsNofSnpsSource
Malignant neoplasm of prostateNM_0010039620.3210CTD_human
Mapping repeat track to ESP:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
36141122
.
GGGC
G
.
19
36141137
.
CGGCGGCGGCGGCGGCGGTGGTGGA
C
.
Mapping repeat track to ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
36141122
rs550053789
GGGCGGCGGCGGCGGC
GGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGC,AGGCGGCGGCGGCGGC,GGGC,GGGCGGC,G
540663.81
19
36141125
rs759165933
C
A,G
246513.53
19
36141128
rs17881832
C
T,G
134703.56
19
36141131
.
CGGCGGCGGCGGCGGCGGCGGCGGTGGTGGA
C
126485.35
19
36141134
rs764833172
C
T
100302.08
19
36141137
rs754956978
CGGCGGCGGCGGCGGCGGTGGTGGA
C,TGGCGGCGGCGGCGGCGGTGGTGGA
79017.77
19
36141140
rs779030286
CGGCGGCGGCGGCGGTGGTGGA
C,AGGCGGCGGCGGCGGTGGTGGA,CGGTGGA
72096.27
19
36141143
.
CGGCGGCGGCGGTGGTGGA
C
63836.55
19
36141146
rs758316271
CGGCGGCGGTGGTGGAGGCGGCGGT
C,TGGCGGCGGTGGTGGAGGCGGCGGT,CGGCGGCGGT
65251.71
19
36141149
rs758160197
CGGCGGTGGTGGAGGCGGCGGT
TGGCGGTGGTGGAGGCGGCGGT,CGGTGGAGGCGGCGGT,CGGCGGTGGCGGTGGTGGAGGCGGCGGT,C,CGGCGGTGGTGGCGGTGGTGGAGGCGGCGGT
65343.30
19
36141152
rs17879825
CGGT
CGGTGGT,TGGT,C
143338.21
19
36141153
.
G
T
39436.23
19
36141154
rs571956167
G
T
38505.13
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
36141122
rs550053789
GGGCGGCGGCGGC
GGGCGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGAGGCGGCGGCGGC,GGGC,G,AGGCGGCGGCGGC
483587.78
19
36141125
rs759165933
C
A
55356.21
19
36141128
rs17881832
C
T
50260.62
19
36141137
rs754956978
CGGCGGCGGCGGCGGCGGTGGTGGA
C
13064.44
19
36141140
rs779030286
C
G
11618.42
19
36141146
rs758316271
CGGCGGCGGTGGTGGA
C
16237.06
19
36141149
rs758160197
CGGCGGTGGTGGA
CGGCGGTGGCGGTGGTGGA,CGGTGGA,C
22194.57
19
36141152
rs17879825
C
CGGT,T
30783.41
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
36141122
.
GGGCGGCGGCGGC
AGGCGGCGGCGGC,G,GGGC,GGGCGGC,GGGCGGCGGC,GGGCGGCGGCGGCGGC
.
19
36141122
rs764398224
GGGC
G
.
19
36141122
rs753467637
GGGCGGC
G
.
19
36141122
rs765923286
GGGCGGCGGC
G
.
19
36141122
rs760260559
GGGCGGCGGCGGC
G
.
19
36141125
rs759165933
C
A
.
19
36141128
rs17881832
C
G
.
19
36141131
.
CGG
CGGC
.
19
36141133
.
G
GC
.
19
36141134
rs764833172
C
T
.
19
36141137
rs754956978
CGGCGGCGGCGGCGGCGGTGGTGGA
C
.
19
36141140
rs779030286
CGGCGGCGGCGGCGGTGGTGGA
C
.
19
36141146
rs758316271
CGGCGGCGGTGGTGGA
C
.
19
36141149
rs758160197
C
CGGCGGT
.
19
36141149
rs777440013
CGGCGGTGGTGGAGGCGGCGGT
C,CGGCGGTGGCGGTGGTGGAGGCGGCGGT
.
19
36141152
rs17879825
C
T
.
19
36141152
rs747187044
C
CGGTGGT,CGGT
.
19
36141152
rs781235760
CGGT
C,CGGTGGT,CGGTGGTGGT
.
19
36141154
rs571956167
G
T
.