General information of RDP00378
Gene Symbol:BHLHE22
RefSeq ID:NM_152414
Repeat coordinate:chr8:64581062-64581080 (+)
Repeat size:6
Repeat region:CDS
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.435; 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 ESP:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
64581060
.
TGGC
TGGCGGC,T
.
8
64581078
~rs79173338
C
CGGCG
.
Mapping repeat track to ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
64581060
rs544639534
TGGC
TGGCGGC,T,TGGCGGCGGC
553091.45
8
64581068
.
G
A
49.68
8
64581070
rs564778972
G
A
8272.75
8
64581072
.
C
T
260.60
8
64581075
.
C
CGGT
34098.03
8
64581077
.
GC
AC,G
383.53
8
64581078
rs79173338
C
CGGG,G
42643.26
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
64581060
rs544639534
TGGC
TGGCGGC,TGGCGGCGGC,T,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGC
2053443.36
8
64581068
.
G
A
428.72
8
64581070
rs564778972
G
A
21628.28
8
64581072
.
CGGCGGCGGG
C
711.82
8
64581073
.
G
GGCA
809.40
8
64581077
.
G
A
1059.26
8
64581078
rs79173338
C
T
876.83
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
64581049
rs752671628
AGCGCGGGAAGTGGCGGCGGCG
A
.
8
64581060
rs745995846
TGGC
T,TGGCGGC,TGGCGGCGGC
.
8
64581064
.
G
A
.
8
64581070
rs564778972
G
A
.
8
64581075
.
C
G
.
8
64581078
.
C
CG
.
8
64581078
rs79173338
C
CGGCG,CG
.
8
64581080
.
G
GC
.