| General information of RDP00271 | |
|---|---|
| Gene Symbol: | HTT |
| RefSeq ID: | NM_002111 |
| Repeat coordinate: | chr4:3074876-3074933 (+) |
| Repeat size: | 19 |
| Repeat region: | CDS |
| Repeat unit: | CAG |
| Repeat conservation: | PhastCons_score: 0.886; 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 |
| {Obsessive-compulsive disorder}, 164230 (3) | 182138 | 17q11.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| LOPES-MACIEL-RODAN SYNDROME | NM_002111 | 0.60 | 2 | 4 | GENOMICS_ENGLAND;UNIPROT |
| Mapping repeat track to 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
4
3074876
.
CCAGCAG
C
100
| Mapping repeat track to ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
4
3074923
402952
AGC
A
.
4
3074926
402953
AGCAG
A
.
4
3074929
156708
A
C
.
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
4
3074876
rs10618869
CCAGCAG
C,CCAG
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
4
3074877
.
C
CAGCAGCAGCAGA
21169271.25
4
3074879
.
G
T
21114594.21
4
3074885
.
G
GCAGCAGCAA
8321199.05
4
3074889
.
C
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGT
1065335.80
4
3074893
rs768407463
AGC
A
605531.82
4
3074894
rs757487802
G
A
605864.99
4
3074896
rs749598070
AGCAG
A
522017.38
4
3074897
.
GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAA
G
523320.88
4
3074898
rs779062371
C
CAGCAGCAGCAGCAGCAGT,CAGA
319049.97
4
3074900
.
G
A
318843.96
4
3074902
rs774823060
AGC
A
266612.28
4
3074903
.
G
A,GCAGCAGCAGCAGCAGCAGCAGCAGCAA
267754.99
4
3074905
rs760097851
AGC
A
81649.87
4
3074906
rs745920924
G
A
111131.43
4
3074908
rs767553699
AGCAGCAGCAGCAGCAGCAG
AAGCAGCAGCAGCAGCAG,A
20736.42
4
3074909
.
G
A
21142.54
4
3074911
rs760691860
AGCAGCAGCAGCAGCAGCAG
ACAG,CGCAGCAGCAGCAGCAGCAG,A,AAGCAGCAGCAGCAGCAG
44837.01
4
3074913
rs754013273
CAG
C
43528.94
4
3074914
.
AGCAGCAGCAGCAG
AAGCAGCAGCAG,CGCAGCAGCAGCAG,A
45059.92
4
3074915
.
G
A
45546.41
4
3074916
.
CAG
C
12795.95
4
3074917
rs757020569
AGCAGCAGCAGCAGCAGCAACAG
A,AAGCAGCAGCAGCAGCAACAG,ACAGCAGCAACAG
50091.56
4
3074918
rs765182345
GCAGCAGCAGCAGCAGCAA
G
55056.99
4
3074920
rs750382879
AGCAGCAGCAG
AAGCAGCAG,ACAG,A,CGCAGCAGCAG
91910.83
4
3074921
.
G
A
97054.63
4
3074923
rs751281707
AGCAGCAG
AAGCAG,ACAG,A
1276149.30
4
3074924
rs758426055
G
A
1321401.58
4
3074926
rs746481543
AGCAG
A,ACAG,AAG,CGCAG
1275148.93
4
3074927
rs780836193
GCAGCAGCAA
ACAGCAGCAA,GCAACAGCAGCAA,G,GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAA
1792382.82
4
3074928
.
CAG
C
1167629.32
4
3074929
rs587777899
AGCAG
ACAG,CGCAG,A
1186202.95
4
3074930
rs774733492
GCAGCAA
ACAGCAA,G,GCAGCAGCAGCAACAGCAA,GCAGCAGCAGCAGCAGCAACAGCAA,GCAGCAGCAGCAGCAACAGCAA
1416120.65
4
3074931
rs776007201
CAGCAA
CCAA,C
178768.07
4
3074932
rs746852037
AGCAACAGCCGCC
CGCAACAGCCGCC,ACCGCC,AGCCGCAACAGCCGCC,A,AGCGGCAACAGCCGCC
922590.63
4
3074933
rs756955307
GCAA
G,ACAA,GCAACAA,GCAGCAACAA,GCAGCAGCAGCAGCAGCAACAA
216988.87
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
4
3074876
rs763773724
CCAGCAGCAGCAG
CCAGCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG,C,CCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAG
5077777.80
4
3074878
.
A
C
3767700.47
4
3074880
rs757968833
CAGCA
C
3131093.05
4
3074882
.
G
GCATCAC
3119954.48
4
3074883
.
CA
C
1154978.78
4
3074884
.
A
G
1133163.37
4
3074885
.
GCAGCAGCA
G
1133181.86
4
3074892
.
C
T
106040.36
4
3074893
rs768407463
AGCAGC
A
105993.82
4
3074895
rs776173565
C
T
89767.75
4
3074896
rs749598070
AGC
A
89765.06
4
3074897
.
G
A,GCAGCAGCAGCAGCAA
90661.14
4
3074902
rs774823060
AGC
A
16043.92
4
3074905
rs760097851
AGCAGCAGCAGCAGCAGCAGCAG
AAGCAGCAGCAGCAGCAGCAG,A
6455.48
4
3074906
rs745920924
G
A
57248.38
4
3074908
rs767553699
AGCAGCAGCAGCAGCAGCAG
A,AAGCAGCAGCAGCAGCAG
29610.97
4
3074909
.
G
A
27728.92
4
3074911
rs760691860
AGCAGCAGCAGCAGCAG
AAGCAGCAGCAGCAG,CGCAGCAGCAGCAGCAG,A
94669.53
4
3074912
.
G
A
40588.70
4
3074913
rs754013273
CAG
C
92805.87
4
3074914
.
AGCAGCAGCAGCAG
A,AAGCAGCAGCAG,CGCAGCAGCAGCAG
100606.35
4
3074915
.
G
A
101182.84
4
3074916
.
CAG
C
46860
4
3074917
rs757020569
AGCAGCAGCAGCAGCAGCAACAG
AAGCAGCAGCAGCAGCAACAG,A,ACAGCAGCAACAG,CGCAGCAGCAGCAGCAGCAACAG,ACAGCAACAG
104077.17
4
3074918
rs765182345
G
A
104849.18
4
3074919
.
CAG
C
102638.12
4
3074920
rs750382879
AGCAGCAGCAGCAGCAACAG
ACAGCAGCAACAG,AAGCAGCAGCAGCAACAG,A,CGCAGCAGCAGCAGCAACAG,ACAGCAACAG
142122.18
4
3074921
.
GCAGCAGCAGCAGCAA
ACAGCAGCAGCAGCAA,G
141733.39
4
3074922
.
CAG
C
141269.82
4
3074923
rs751281707
AGCAGCAGCAGCAACAG
AAGCAGCAGCAACAG,CGCAGCAGCAGCAACAG,ACAGCAGCAACAG,A,ACAGCAACAG
840230.69
4
3074924
rs758426055
G
A,GCAGCAGCAA
893408.26
4
3074925
.
CAG
C
811809.30
4
3074926
rs746481543
AGCAG
ACAG,A,CGCAG,AAG
864736.95
4
3074927
rs780836193
G
GCAA,A,GCCGC
1327376.42
4
3074928
.
CAGCAGCAACA
CCAGCAACA,C
330872.52
4
3074929
rs587777899
AGCAGCAACAG
A,CGCAGCAACAG,ACAGCAACAG,ACCGCAGCAACAG,AGCAGCAGCGGCAGCAACAG
412662.56
4
3074930
rs774733492
G
GCAGCAGCAGCAGCAGCAA,A,GCAGCAGCAGCAGCAGCAGCAA,GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAA,GCAGCAGCAGCAGCAGCAGCAGCAA
411875.93
4
3074931
rs776007201
CAGCAACA
CCAACA,CCA,C,CGCAACA
122807.99
4
3074932
rs746852037
AGCAACAG
CGCAACAG,A,ACAACAG,ACCGCAACAG
1291893.01
4
3074933
rs756955307
G
GCAA,A,GCAGCAGCAGCAGCAA,GCAGCAGCAGCAA
93515.02
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
4
3074876
rs71180116
CCAG
C
.
4
3074876
rs374076986
CCAGCAG
C
.
4
3074876
rs757035717
CCAGCAGCAG
C
.
4
3074876
rs778928198
CCAGCAGCAGCAG
CCAG,CCAGCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,C
.
4
3074876
.
CCAGCAGCAGCAGCAGCAGCAG
C
.
4
3074876
.
CCAGCAGCAGCAGCAGCAGCAGCAGCAG
C
.
4
3074879
.
G
GTCCTTC
.
4
3074880
rs757968833
C
CAGA
.
4
3074890
rs797020658
AGC
A
.
4
3074891
rs779781803
G
GCAA,GGC
.
4
3074893
rs768407463
AGC
A
.
4
3074894
rs757487802
G
A
.
4
3074895
rs776173565
C
CAGCAGCAGCAGCAGCAGCAGA
.
4
3074896
rs749598070
AGCAG
A
.
4
3074898
rs779062371
C
T
.
4
3074900
.
GC
AC
.
4
3074901
rs771210394
C
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGT
.
4
3074902
rs774823060
AGC
A
.
4
3074905
.
A
C
.
4
3074905
rs760097851
AGC
A
.
4
3074906
rs745920924
G
A
.
4
3074908
.
AGCA
CACC
.
4
3074908
rs767553699
AGC
A
.
4
3074908
rs775594517
AGCAGCAGCAGCAGCAGCAG
A
.
4
3074911
rs760691860
AGCAGCAGCAGCAGCAG
A
.
4
3074911
rs764336220
AGCAGCAGCAGCAGCAGCAG
A
.
4
3074912
.
GCAGCAGCAGCAGCAGCAGCAGCAA
G
.
4
3074913
rs754013273
CAG
C
.
4
3074914
.
A
C
.
4
3074917
.
A
C
.
4
3074917
rs757020569
AGCAGCAGCAGCAGCAGCAACAG
A
.
4
3074918
rs765182345
GCAGCAGCAGCAGCAGCAA
G
.
4
3074920
rs750382879
AGC
A
.
4
3074923
rs751281707
AGC
A
.
4
3074923
rs779692208
AGCAGCAG
A
.
4
3074924
rs758426055
G
A
.
4
3074926
rs796916565
AGC
A
.
4
3074926
rs754481229
AGCAG
A
.
4
3074927
rs779821751
G
A
.
4
3074927
rs780836193
G
GCAA,GGC
.
4
3074929
rs587777899
A
C
.
4
3074930
rs9993357
G
A
.
4
3074930
.
GCAGCAA
ACAGCAA,G,GCAGCAACAGCAA,GCAGCAGCAGCAGCAGCAGCAACAGCAA
.
4
3074930
rs774733492
G
GCAGCAA,GCAGCAGCAGCAGCAGCAGCAA
.
4
3074930
rs772517171
GCAGCAA
G
.
4
3074931
rs776007201
CAG
C
.
4
3074932
rs746852037
A
C
.
4
3074933
rs756955307
G
A
.
4
3074933
rs760743124
G
GCAA,GCAGCAA
.