| General information of RDP00274 | |
|---|---|
| Gene Symbol: | TBP |
| RefSeq ID: | NM_001172085 |
| Repeat coordinate: | chr6:170561958-170562015 (+) |
| Repeat size: | 19 |
| Repeat region: | CDS |
| Repeat unit: | CAG |
| Repeat conservation: | PhastCons_score: 0.835; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | QQQQQQQQQQQQQQQQQQQ |
| 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 |
| {Parkinson disease, susceptibility to}, 168600 (3) | 600075 | 6q27 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| PARKINSON DISEASE, LATE-ONSET | NM_001172085 | 0.50 | 0 | 0 | CTD_human;GENOMICS_ENGLAND |
| Mapping repeat track to ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
170561963
403524
AGC
A
.
6
170561964
130560
G
A
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
170561919
rs541359952
ACAACAACAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAG
ACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAG,ACGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAG,GCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAG,A
95196.22
6
170561942
.
AGCAGCAGCAACAGCAACAGCAG
A
197222.43
6
170561952
rs55736770
ACAGCAACAGCAGCAG
AGCAGCAACAGCAGCAG,GCAGCAACAGCAGCAG,AGCAGCAGCAGCAACAGCAGCAG,AACAGCAGCAACAGCAGCAG,A
116445192.27
6
170561958
rs775224229
ACAGCAGCAG
A,ACAG,GCAGCAGCAG,ACAGCAGCAGCAG,ACAGCAGCAGCAGCAG
28575122.86
6
170561959
.
CA
C
9181048.16
6
170561960
.
AGC
A
9181544.22
6
170561963
rs796868804
AGC
A
25527964.40
6
170561965
.
C
A
17886065.79
6
170561966
rs775626005
AGCAGCAGCAGCAGCAGCAGCAG
ACAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAG,ACAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAG
15329813.71
6
170561967
rs112928724
G
A,GCAA
23578009.94
6
170561968
.
C
T
13173348.07
6
170561969
.
AGCAGCAGCAGCAG
ACAGCAGCAG,ACAGCAGCAGCAG,A
13191821.84
6
170561970
rs113440919
G
A
13307635.43
6
170561973
rs749604546
G
A,GCAA
7722881.41
6
170561974
.
C
T
4612732.07
6
170561976
rs112748399
G
A
4643760.64
6
170561979
rs779471026
G
A,T
3630195.97
6
170561980
.
C
T
2541689.60
6
170561982
rs748266569
G
A,C
2553492.54
6
170561983
.
C
T
1735234.57
6
170561985
rs551889211
G
A
1761056.11
6
170561988
rs564069390
G
A
1310842.84
6
170561990
.
A
G
549100.81
6
170561991
rs528070949
G
A
570898.54
6
170561994
rs548097837
GCA
G,ACA
353277.30
6
170561996
.
A
G
117310.52
6
170561997
rs566225355
G
A
117030.68
6
170561999
rs776117522
AGC
GGC,A
60200.35
6
170562000
rs762795778
GCA
ACA,G
63924.50
6
170562002
rs764009292
AGCAGCAG
ACAGCAG,GGCAGCAG,A
30804.79
6
170562003
rs751515739
GCA
ACA,G
24348.46
6
170562004
.
CAGCAGCAG
C
4160.41
6
170562005
rs764917672
A
G,AGCAGCAGCAGCAGCG,AGCAGCAGCAGCAGCAGCG,AGCG
17317.62
6
170562006
.
GCA
G,ACA
5961.23
6
170562007
.
CA
C
12281.65
6
170562008
.
AGC
A
21743.21
6
170562009
rs200496051
GCA
ACA,GCAACA,G,GCAGCAACA
54658.72
6
170562011
rs865926586
AGCAG
AAG,A,ACAG
81822.04
6
170562012
rs796895015
G
C,A,GCAA
100993.43
6
170562014
rs757770542
AG
A
62323.96
6
170562015
rs781781064
G
A,GCAA,GCAGCAGCAGCAGCAA,GCAGCAA
239161.03
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
170561925
rs201732168
ACAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAG
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAG,AGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAG,ACAGCAGCAGCAGCAGCAGCAACAGCAACAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAG,A
770912.15
6
170561948
.
AGCAACAGCAACAGCAGCAGCAGCAG
A
24108.56
6
170561952
rs55736770
ACAGCAACAG
GCAGCAACAG,AGCAGCAACAG,AACAGCAGCAACAG,AGCAGCAGCAACAG,A
8269031.43
6
170561958
rs775224229
ACAGCAG
ACAG,A,GCAGCAG,ACAGCAGCAG,ACAGCAGCAGCAG,ACAGCAGCAGCAGCAG
1236300.31
6
170561959
.
CA
C
322640.92
6
170561961
rs760309917
GCA
GCAACA,ACA,G
2207731.30
6
170561963
rs796868804
AGC
A
3672049.11
6
170561964
rs776458919
G
A
4906235.98
6
170561965
.
C
T
2806715.61
6
170561966
rs775626005
AGCAGCAGCAGCAGCAGCAG
ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAG,ACAGCAGCAGCAG,ACAGCAGCAG,ACAGCAG,A
3302435.88
6
170561967
rs112928724
G
A
3489796.45
6
170561968
.
C
A
1914104.81
6
170561970
rs113440919
G
A,GCAGCAGCAGCAGCAACAGCAA
1901889.95
6
170561973
rs749604546
G
A
996765.62
6
170561975
.
A
G
630337.10
6
170561976
rs112748399
G
A
630834.63
6
170561979
rs779471026
G
A
315631.64
6
170561982
rs748266569
G
A,C
166647.91
6
170561985
rs551889211
G
A,GCAA
134839.50
6
170561988
rs564069390
G
A
68430.75
6
170561991
rs528070949
G
A
36379.74
6
170561992
.
C
T
20015.06
6
170561997
rs566225355
G
A
5079.88
6
170562000
rs762795778
G
A
3817.44
6
170562003
rs751515739
G
A
1424.88
6
170562005
rs764917672
A
G,AGCG,AGCAGCAGCAGCAGCG
1416.45
6
170562009
rs200496051
G
A
218.24
6
170562011
rs865926586
AGC
A
438.02
6
170562012
rs796895015
GCAGCAA
CCAGCAA,G,GCAACAGCAA
3742.70
6
170562014
rs757770542
AG
A
1079.41
6
170562015
rs781781064
G
A,GCAGCAGCAA
5337.42
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
170561946
rs765831089
GCAGCAACAGCAACA
G
.
6
170561952
.
ACAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
A,AGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ATCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,GCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
.
6
170561953
.
CAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
C
.
6
170561958
.
ACAGCAG
ACAGCAA
.
6
170561958
rs758734033
ACAG
A
.
6
170561958
rs753090727
ACAGCAG
ACGGCAG,A
.
6
170561958
rs752404282
ACAGCAGCAG
A
.
6
170561961
rs56241301
G
A
.
6
170561961
rs760309917
G
GCAA
.
6
170561963
rs796868804
AGC
A
.
6
170561964
rs112083427
G
A
.
6
170561964
.
GCAG
ACAG
.
6
170561964
rs776458919
G
GCAA,GGC
.
6
170561966
rs775626005
AGCAG
A
.
6
170561966
rs773085804
AGCAGCAGCAG
A
.
6
170561966
rs771725566
AGCAGCAGCAGCAG
A
.
6
170561966
rs747945026
AGCAGCAGCAGCAGCAGCAG
A
.
6
170561966
rs760551718
AGCAGCAGCAGCAGCAGCAGCAG
A
.
6
170561967
rs112928724
G
A
.
6
170561967
rs766310518
G
GCAA
.
6
170561970
rs113440919
G
A,T
.
6
170561971
.
C
A
.
6
170561972
rs780283741
A
G
.
6
170561973
rs749604546
G
A
.
6
170561976
rs112748399
G
A
.
6
170561979
rs779471026
G
A
.
6
170561982
rs748266569
G
A,C
.
6
170561985
rs551889211
G
A
.
6
170561988
rs564069390
G
A
.
6
170561988
.
GCAG
ACAG
.
6
170561991
rs528070949
G
A
.
6
170561991
.
GCAGCAGCAGCAGCAGCAGCA
GCAACAGCAGCAGCAGCAGCA
.
6
170561994
rs548097837
G
A
.
6
170561997
rs566225355
G
A
.
6
170562000
rs762795778
G
A
.
6
170562001
rs759102124
CAGCAGCAGCAG
C
.
6
170562002
rs764009292
A
G
.
6
170562003
rs751515739
G
A
.
6
170562005
rs764917672
A
AGCAGCAGCAGCAGCG,AGCG
.
6
170562009
rs200496051
G
A
.
6
170562009
rs758096834
G
GCAA,GCAGCAA
.
6
170562010
.
CA
TG
.
6
170562011
rs751986065
AGC
A
.
6
170562012
rs796895015
G
A,C
.
6
170562014
rs149441883
AG
AA,A,AGCAA,AGCAGCAGCAA
.
6
170562015
rs781781064
G
GCAA,GCAGCAGCAA
.