General information of RDP00330
Gene Symbol:CAPNS1
RefSeq ID:NM_001003962
Repeat coordinate:chr19:36141040-36141058 (+)
Repeat size:6
Repeat region:CDS
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.959; Repeat Conservation from UCSC Genome Browser
Amino acid sequence:GGGGG
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 ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
36141037
.
AGGGCGGCGGCGGCGGCGGCGGGGGAGGCGGGGGCCTGGGTGGGGGCCTGGGAAATGTGCTTGGAGGCCTGATCAGCGGGGCCGG
A
555.14
19
36141038
rs772150558
GGGCGGCGGC
GGGCGGC,GGGC,GGGCGGCGGCGGC,G
258617.95
19
36141041
.
C
A
253530.19
19
36141042
rs768772206
G
T
10896.97
19
36141044
.
C
T
10778.21
19
36141047
.
C
T
7493.49
19
36141050
.
C
G
1302.59
19
36141053
rs770936240
CGGCGGGGGA
TGGCGGGGGA,C,AGGCGGGGGA
2664.79
19
36141054
rs774127921
G
T
2280.14
19
36141056
rs567500165
C
G
23714.89
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
36141038
rs772150558
GGGCGGCGGC
GGGCGGC,GGGC,G,GGGCGGCGGCGGC
2376.94
19
36141053
rs770936240
C
CGGCGGGGGA
114.37
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
36141038
rs748037068
GGGC
G
.
19
36141038
rs747214647
GGGCGGC
G
.
19
36141038
rs778007767
GGGCGGCGGC
G
.
19
36141042
rs768772206
G
T
.
19
36141043
.
G
A
.
19
36141053
rs770936240
CGGCGGGGGA
C
.
19
36141054
rs774127921
G
T
.
19
36141056
rs567500165
C
CG,G
.
19
36141056
.
C
CG
.