| General information of RDP00630 | |
|---|---|
| Gene Symbol: | FUS |
| RefSeq ID: | NR_028388 |
| Repeat coordinate: | chr16:31185083-31185101 (+) |
| Repeat size: | 6 |
| Repeat region: | exon |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.775; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | - |
| 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 |
| Essential tremor, hereditary, 4, 614782 (3) | 137070 | 16p11.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Frontotemporal Dementia With Motor Neuron Disease | NR_028388 | 0.30 | 1 | 0 | ORPHANET |
| Mapping repeat track to ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
31185081
374452
TGGCGGCGGC
T
.
16
31185093
447358
CGGCGGCGGT
C
.
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
31185085
rs72550890
G
A
.
16
31185090
rs140003720
C
T
.
16
31185093
.
CGGCGGCGGT
C
.
16
31185099
.
CGGT
C
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
31185061
rs267606832
CGCGGCAGGGGTGGCAGTGGTGGCGGCG
TGCGGCAGGGGTGGCAGTGGTGGCGGCG,C
60139.40
16
31185076
rs774111102
AGTGGTGGCGGCGGCGGCGGCGGCG
A,AGTGGTGGTGGCGGCGGCGGCGGCGGCG
31467.11
16
31185081
rs372671599
TGGCGGCGGC
TGGCGGC,TGGC,TGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGC
969974.52
16
31185084
rs751731608
C
T,CGGT
412079.70
16
31185085
rs139909611
G
A,T
285417.41
16
31185087
rs533399799
C
T
291258.34
16
31185088
rs551577399
G
A
113004.70
16
31185090
rs140003720
CGGCGGCGGCGGT
TGGCGGCGGCGGT,C
246760.72
16
31185091
rs758970940
G
A
22836.78
16
31185092
.
G
T
9643.18
16
31185093
rs766928625
CGGCGGCGGTGGT
TGGCGGCGGTGGT,CGGT,C
92005.76
16
31185094
rs752125355
G
A,GGCGGCAGTGGTGGCGGCGGCGGCT
78077.34
16
31185096
rs755321560
CGGCGGTGGT
TGGCGGTGGT,C,CGGT
114126.60
16
31185097
.
G
A
105500.74
16
31185098
.
G
GCGGCGT
98818.20
16
31185099
rs151073460
CGGTGGT
TGGTGGT,CGGTGGTGGTGGTGGT,CGGTGGTGGT,C,CGGT
375315.02
16
31185100
.
GGTGGTGGTTACAACCGCAGCA
G,AGTGGTGGTTACAACCGCAGCA
107776.51
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
31185081
rs372671599
TGGCGGCGGC
TGGCGGCGGCGGC,TGGC,TGGCGGCGGCGGCGGC,TGGCGGC,T,CGGCGGCGGC
89811.81
16
31185084
rs751731608
C
T
21641.98
16
31185085
rs139909611
G
A
14584.96
16
31185087
rs533399799
C
CGGT
15037.29
16
31185088
rs551577399
G
A
5117.49
16
31185090
rs140003720
C
T
18282.73
16
31185091
rs758970940
G
A
135.47
16
31185093
rs766928625
CGGCGGCGGT
C
3024.59
16
31185096
rs755321560
C
T
4386.10
16
31185099
rs151073460
C
T,CGGT,CGGTGGTGGT
13953.68
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
31185061
.
CGCGGCAGGGGTGGCAGTGGTGGCGGCG
C,TGCGGCAGGGGTGGCAGTGGTGGCGGCG
.
16
31185061
rs756437417
CGCGGCAGGGGTGGCAGTGGTGGCGGCG
C
.
16
31185076
rs770753372
AGTGGTGGCGGCGGCGGCGGCGGCG
A,AGTGGTGGTGGCGGCGGCGGCGGCGGCG
.
16
31185081
.
TGGC
T
.
16
31185081
rs760734999
TGGC
T,TGGCGGC
.
16
31185081
rs746532502
TGGCGGC
T,TGGCGGCGGCGGCGGC
.
16
31185081
rs776460861
TGGCGGCGGC
T
.
16
31185081
rs766619579
TGGCGGCGGCGGC
T,TGGC,TGGCGGC,TGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGC
.
16
31185084
rs767226101
C
CGGT,T
.
16
31185084
rs751731608
C
CGGT,CG
.
16
31185085
rs139909611
G
A,T
.
16
31185087
rs533399799
C
T
.
16
31185088
rs551577399
G
A
.
16
31185090
rs140003720
C
T
.
16
31185090
.
CGGCGGCGGCGGT
C,TGGCGGCGGCGGT
.
16
31185090
rs755025992
CGGCGGCGGCGGT
C
.
16
31185091
rs758970940
G
A
.
16
31185093
rs766928625
C
G,T
.
16
31185093
.
CGGCGGCGGTGGT
C,CGGT,TGGCGGCGGTGGT
.
16
31185093
rs767564995
CGGCGGCGGT
C
.
16
31185093
rs752712347
CGGCGGCGGTGGT
C
.
16
31185094
rs752125355
G
A
.
16
31185094
rs756699149
G
GGCGGCAGTGGTGGCGGCGGCGGCT
.
16
31185096
rs755321560
C
G,T
.
16
31185096
.
CGGCGGTGGT
C,TGGCGGTGGT
.
16
31185096
rs778398729
CGGCGGTGGT
C
.
16
31185099
rs151073460
C
T
.
16
31185099
rs778725612
C
CGGTGGTGGT,CGGTGGT,CGGT,CG
.
16
31185099
rs781045873
CGGT
C
.
16
31185099
rs757651881
CGGTGGT
C
.