| General information of RDP00259 | |
|---|---|
| Gene Symbol: | ATN1 |
| RefSeq ID: | NM_001007026 |
| Repeat coordinate: | chr12:6936728-6936773 (+) |
| Repeat size: | 15 |
| Repeat region: | CDS |
| Repeat unit: | CAG |
| Repeat conservation: | PhastCons_score: 0.148; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | QQQQQQQQQQQQQQQ |
| Gene expression and GO annotation: | BioGPS |
| Protein expression: | Human Protein Altas |
| Gene conservation: | Gene Conservation from UCSC Genome Browser |
| Mapping repeat track to OMIM: | ||
|---|---|---|
| Phenotype | OMIM_id | Location |
| Dentatorubro-pallidoluysian atrophy, 125370 (3) | 607462 | 12p13.31 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Intellectual Disability | NM_001007026 | 0.30 | 1 | 0 | GENOMICS_ENGLAND |
| Mapping repeat track to ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
6936735
210374
CAGCAGCAG
C
.
12
6936738
210375
C
CCAGCAG
.
12
6936738
210376
CAGCAG
C
.
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
6936722
~rs66756893
ACAGCAACAGCAGCAG
ACAGCAG,ACAGCAGCAACAGCAGCAG,A
.
12
6936752
rs148885085
G
A
.
12
6936761
rs199988271
G
A
.
12
6936764
rs142596770
G
A
.
12
6936773
rs146459577
G
T
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
6936710
rs868957708
TCACCACCAGCAACAGCAACAGCAGCAGCAGCAGCAG
T
3446.02
12
6936716
rs141514883
CCAGCAACAGCAACAG
CCAGCAACAG,C,CCAGCAACAGCAACAGCAACAG,CCAG
11472785.90
12
6936722
rs782767400
ACAGCAACAGCAGCAGCAGCAGCAG
ACAGCAGCAGCAGCAG,ACAGCAGCAACAGCAGCAGCAGCAGCAG,ACAGCAGCAG,ACAGCAGCAGCAG,A
10100523.24
12
6936730
.
AGC
A
145508456.51
12
6936731
rs782600678
G
A,GCAA,GCAGCAA
145867988.68
12
6936732
rs782217690
C
A
136685530.92
12
6936733
rs782199287
AGC
A
136746742.26
12
6936734
rs782253884
G
A,GCAA
136908339.83
12
6936736
rs782261324
AGCAGCAGCAGCAGCAGCAG
AAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAG,ACAGCAGCAG
121065792.63
12
6936737
rs782802947
G
A
131255159.31
12
6936739
rs782214874
AGCAG
A,AAG
110220614.58
12
6936740
rs782425213
G
A
110268970.19
12
6936742
rs782330117
AGCAGCAGCAGCAGCAGCAG
ACAGCAG,A
97901328.37
12
6936743
rs782024066
G
A
97909431.10
12
6936745
.
AG
A
83981759.31
12
6936746
rs782071230
G
A,C
84022266.39
12
6936747
.
CAGCAG
C
54865551.84
12
6936748
rs781928966
A
AGCAGCAGCG,AGCAGCAGCC
54856713.84
12
6936749
rs782160270
G
A,GCAGCAA
54940041.67
12
6936753
rs868955461
CA
C,GA
1786378.86
12
6936755
rs200695600
GCAGCAGCAGCAGCAGCAGCAT
ACAGCAGCAGCAGCAGCAGCAT,TCAGCAGCAGCAGCAGCAGCAT,GCAGCAGCAGCAGCAGCAGCATCAGCAGCAGCAGCAGCAGCAT,G
1866759.64
12
6936757
rs781817874
AGC
ACGC,A,AC
519060.23
12
6936759
rs782065589
CAGCAGCAGCAGCAGCAT
C
142370.74
12
6936760
rs782697297
AG
A,AGCAGCAGCAGCAGCGG
143629.92
12
6936761
rs199988271
G
A,T
157303.46
12
6936763
.
AG
A
58229.10
12
6936764
rs142596770
G
A
104584.90
12
6936765
rs781888457
CAGCAGCAGCAT
CAGCAGGAGCAGCAGCAT,C
76284.33
12
6936766
rs782636577
AGC
A
54977.82
12
6936767
rs782011067
G
GCAGCAGCATCAC
57039.35
12
6936769
rs781844505
AG
A
55953.95
12
6936770
rs781901934
G
T
61672.25
12
6936773
rs146459577
G
GCAT,GCAGCAGCAGCAGCAGCAGCAT,GCAGCAT,GCAGCAGCAGCAGCAT,GCAGCAGCAT
457131.15
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
6936716
rs141514883
CCAGCAACAGCAACAG
CCAGCAACAG,CCAGCAACAGCAACAGCAACAG,C,CCAGCAACAGCAACAGCAGCAGCAACAGCAACAG
502682.32
12
6936722
rs782767400
ACAGCAACAGCAGCAGCAG
ACAGCAGCAG,ACAGCAGCAACAGCAGCAGCAG,ACAG,ACAGCAG,A
497960.15
12
6936731
rs782600678
G
A,GCAGCAA
6115261.27
12
6936733
rs782199287
AGC
A
5748703.08
12
6936734
rs782253884
G
A
5762426.78
12
6936736
rs782261324
AGCAGCAGCAGCAGCAGCAG
AAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAG
5285806.49
12
6936737
rs782802947
G
A
5686128.62
12
6936738
rs797045321
CAG
C
4371239.90
12
6936739
rs782214874
AGCAG
A
4365892.65
12
6936740
rs782425213
G
A
4367928.23
12
6936744
.
C
A
2379947.54
12
6936746
rs782071230
G
A
2374585.60
12
6936748
rs781928966
AG
A
1961020.55
12
6936749
rs782160270
G
GCAGCAA
1970507.82
12
6936757
rs781817874
AGC
A
7812.76
12
6936760
rs782697297
AG
A
2112.84
12
6936761
rs199988271
G
T
4281.02
12
6936763
.
AG
A
2702.94
12
6936764
rs142596770
G
A
4675.95
12
6936765
rs781888457
CAGCAGCAGCAT
C
2100.93
12
6936770
rs781901934
G
GCAT
2433.41
12
6936773
rs146459577
G
GCAGCAT,GCAGCAGCAGCAGCAT,GCAGCAGCAGCAGCAGCAGCAT
8382.91
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
6936728
.
ACAGCAGCAGCAGCAGCAGCAG
A
.
12
6936728
.
ACAG
ACAGCAG,A
.
12
6936728
.
ACAGCAG
A
.
12
6936728
rs60216939
ACAGCAGCAG
A
.
12
6936728
.
ACAGCAGCAGCAG
A
.
12
6936728
rs377147612
ACAGCAGCAGCAGCAG
ACAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAG,A
.
12
6936728
.
ACAGCAGCAGCAGCAGCAG
A
.
12
6936728
.
ACAGCAGCAGCAGCAGCAGCAG
ACAGCAG,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAG,A
.
12
6936728
.
ACAGCAGCAGCAGCAGCAGCAGCAG
A
.
12
6936729
.
CAGCAGCAGCAGCAGCAGCAGCAGCAG
CAGCAG
.
12
6936731
rs782565332
G
A,C,GCAA
.
12
6936731
rs782600678
G
GCAA
.
12
6936732
rs782217690
C
A,T
.
12
6936734
rs782253884
G
A,C
.
12
6936735
rs797045320
CAGCAGCAG
C
.
12
6936737
rs782802947
G
A,C,T
.
12
6936738
rs797045321
C
CCAGCAG
.
12
6936738
rs797045322
CAGCAG
C
.
12
6936739
.
AGCAG
AAG,A
.
12
6936740
rs782425213
G
A,C
.
12
6936742
.
AGCAGCAGCAGCAGCAGCAG
A
.
12
6936743
rs782024066
G
A,C
.
12
6936746
rs782071230
G
A,C
.
12
6936748
rs781928966
A
AGCAGCAGCG
.
12
6936749
rs144280633
G
A
.
12
6936749
rs782160270
G
GCAGCAA
.
12
6936752
rs148885085
G
A,T
.
12
6936752
rs782399095
GC
G
.
12
6936755
rs200695600
G
A,T
.
12
6936755
.
GCAGCAGCAGCAGCAGCAGCAT
ACAGCAGCAGCAGCAGCAGCAT,G
.
12
6936757
.
AGC
AC,A
.
12
6936758
rs201797204
G
A,T
.
12
6936760
rs199988271
AG
AA,A,AT
.
12
6936764
rs142596770
G
A,C
.
12
6936765
rs781888457
C
CAGCAGCAGG,CAGCAGG
.
12
6936766
.
AGC
A
.
12
6936767
rs782348983
G
GCAA
.
12
6936767
.
GCAGCAGCAT
G
.
12
6936770
rs781901934
G
T
.
12
6936773
rs146459577
G
T
.
12
6936773
rs782468714
G
GCAGCAGCAGCAGCAGCAGCAT,GCAGCAGCAGCAGCAT,GCAGCAGCAGCAT,GCAGCAT,GCAT
.
12
6936773
.
GCAT
G
.