General information of RDP00291
Gene Symbol:POU3F1
RefSeq ID:NM_002699
Repeat coordinate:chr1:38046637-38046661 (-)
Repeat size:8
Repeat region:CDS
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.070; Repeat Conservation from UCSC Genome Browser
Amino acid sequence:AAAAAAA
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
Rheumatoid ArthritisNM_0026990.3010CTD_human
Mapping repeat track to ESP:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
38046636
.
GGCC
G
.
Mapping repeat track to ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
38046629
.
GCTCCGCGGCCGCCGCCGCCGCCGCCGC
G
193.01
1
38046636
rs767888115
GGCCGCCGCCGCCGCC
GGCCGCCGCCGCC,GGCCGCCGCCGCCGCCGCC,GGCCGCCGCC,GGCC,GGCCGCC,G
639511.27
1
38046640
.
G
A,C
42322.16
1
38046643
.
G
A
11972.93
1
38046644
.
C
A
10408.09
1
38046645
.
C
T,A
11894.43
1
38046648
.
C
T
3609.11
1
38046654
.
C
A
1473.64
1
38046655
.
G
A
1445.42
1
38046656
.
C
T
105.71
1
38046660
.
CGCG
GGCG,C
6649.72
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
38046636
rs767888115
GGCCGCCGCCGCC
GGCCGCCGCC,GGCCGCCGCCGCCGCC,GGCCGCC,G,GGCC
105918.33
1
38046645
.
C
A,T
1654.61
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
38046636
rs759795723
GGCC
G
.
1
38046636
rs756501993
GGCCGCCGCCGCC
G
.
1
38046636
rs753093803
GGCCGCCGCCGCCGCC
G
.
1
38046654
.
C
A
.