DRED

General information of RDP00273
Gene Symbol:ATXN1
RefSeq ID:NM_000332
Repeat coordinate:chr6:16327686-16327722 (-)
Repeat size:12
Repeat region:CDS
Repeat unit:CAG
Repeat conservation:PhastCons_score: 0.578; Repeat Conservation from UCSC Genome Browser
Amino acid sequence:QQQQQQQQQQQQ
Gene expression and GO annotation: BioGPS
Protein expression:Human Protein Altas
Gene conservation:Gene Conservation from UCSC Genome Browser
Mapping repeat track to OMIM:
PhenotypeOMIM_idLocation
Spinocerebellar ataxia 1, 164400 (3)6015566p22.3
Mapping repeat track to DisGeNET:
Disease_nameRefSeqScoreNofPmidsNofSnpsSource
familial atrial fibrillationNM_0003320.3020CTD_human
Mapping repeat track to ClinVar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
16327684
210503
ATGC
A
.
6
16327687
210504
C
A
.
6
16327690
210502
C
A
.
Mapping repeat track to ESP:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
16327678
~rs193922926
ATGCTGATGCTGCTGCTGC
ATGCTGCTGC,A,ATGCTGC
.
6
16327687
rs193922926
C
CTGA
.
6
16327696
rs200788953
C
A
.
6
16327702
rs199744696
C
A
.
6
16327708
rs372349437
C
A
.
Mapping repeat track to ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
16327679
rs776423976
TGCTGATGCTG
T
8027078.72
6
16327687
rs28555263
C
A,CTGA,CTGCTGA,CTGCTGCTGA,CTGCTGCTGCTGCTGCTGCTGCTGA
83589831.43
6
16327690
rs201030692
C
A,CTGCTGA
48159999.86
6
16327691
.
T
A
5608066.68
6
16327693
rs755248730
C
A,CTGCTGA
5568572.80
6
16327694
.
T
A
1888290.85
6
16327696
rs748534826
C
A,CTGA,T,CTGCTGCTGA
1876215.89
6
16327699
rs200468848
C
A,CTGCTGA,CTGA
1294630.57
6
16327702
rs780668904
C
A,CTGCTGA,CTGA,CTGCTGCTGCTGATGCTGA
1051416.47
6
16327704
.
G
A
559669.14
6
16327705
rs201683085
C
A,T
613801.71
6
16327707
rs769410481
G
GCTGCTGCTGCTGCTGCTC
379139.17
6
16327708
rs372349437
C
A,CTGA
440680.55
6
16327709
rs775316460
T
TGCTGCTGCC
271861.36
6
16327711
rs766640532
C
A,CTGA
292677.26
6
16327712
.
TGCTGCTGCTGCTCA
T
138524.08
6
16327714
.
C
A
140290.49
6
16327715
.
TGCTGCTGCTCA
T
78739.91
6
16327717
rs754419317
C
A
96193.81
6
16327718
.
T
A
51054.29
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
16327678
rs59310777
ATGCTGATGC
A,CTGCTGATGC,ATGCTGCTGCTGATGC,ATGCTGCTGATGC,ATGCTGCTGCTGCTGATGC
2122107.46
6
16327687
rs28555263
C
A,CTGCTGA,CTGA,CTGCTGCTGA
1140740.63
6
16327689
.
G
A
102558.93
6
16327690
rs201030692
C
A
105414.19
6
16327692
.
G
A
47011.17
6
16327693
rs755248730
C
A,CTGCTGA
43757.54
6
16327694
.
T
C
37811.53
6
16327696
rs748534826
C
A
41496.74
6
16327699
rs200468848
C
A,CTGCTGA
22329.21
6
16327702
rs780668904
C
A
17967.53
6
16327703
.
T
TGCTGCC
9916.17
6
16327705
rs201683085
C
A
9969.77
6
16327706
.
T
A
5388.85
6
16327707
rs769410481
G
GCTGCTGCTGCTGCTGCTC
6004.65
6
16327708
rs372349437
C
A
6955.86
6
16327711
rs766640532
C
A
2836.17
6
16327713
.
G
A
741.43
6
16327720
rs867156922
C
CTGA
206.45
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
16327678
.
ATGCTGATGCTGCTGCTGC
A,ATGCTGATGCTGCTGATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGATGCTGCTGCTGC,ATGCTGCTGC,CTGCTGATGCTGCTGCTGC
.
6
16327678
rs769636450
ATGCTGATGC
A
.
6
16327678
rs764073850
ATGCTGATGCTGC
A
.
6
16327678
rs775260870
ATGCTGATGCTGCTGCTGC
A
.
6
16327684
.
ATGCTGCTGCTGC
CTGCTGCTGCTGC
.
6
16327684
rs797045409
ATGC
A
.
6
16327687
rs28555263
C
A
.
6
16327687
rs750728642
C
CTGATGCTGA,CTGA,CTGCTGA,CTGCTGCTGCTGCTGA
.
6
16327690
rs201030692
C
A
.
6
16327690
.
CTGC
ATGC
.
6
16327691
.
TGCTGC
TGATGC
.
6
16327693
rs544512597
C
A
.
6
16327693
rs755248730
C
CTGATGCTGA,CTGCTGCTGCTGA
.
6
16327696
rs200788953
C
A
.
6
16327696
rs748534826
C
CTGCTGA
.
6
16327699
rs200468848
C
A
.
6
16327699
rs770491219
C
CTGCTGA
.
6
16327701
rs762151487
G
A
.
6
16327702
rs199744696
C
A
.
6
16327702
rs780668904
C
CTGA,CTGCTGA
.
6
16327705
rs201683085
C
A
.
6
16327707
rs769410481
G
GCTGCTGCTGCTGCTGCTC
.
6
16327708
rs372349437
C
A
.
6
16327709
rs775316460
T
TGCTGCTGCC
.
6
16327711
rs766640532
C
A
.
6
16327716
.
G
T
.
6
16327717
rs754419317
C
A
.