| General information of RDP00599 | |
|---|---|
| Gene Symbol: | MUSK |
| RefSeq ID: | NM_001166280 |
| Repeat coordinate: | chr9:110701694-110701924 (+) |
| Repeat size: | 46 |
| Repeat region: | intron |
| Repeat unit: | TTTTA |
| Repeat conservation: | PhastCons_score: 0.000; 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 |
| Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3) | 601296 | 9q31.3 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY | NM_001166280 | 0.81 | 6 | 8 | GENOMICS_ENGLAND;UNIPROT |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
110701657
rs13299498
TTTTATTTATTTTATTTTATTTTTTTTACTTTACTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA
TTTTATTTTATTTTATTTTTTTTACTTTACTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA,T
213925.06
9
110701659
.
TTATTTATTTTATTTTATTTTTTTTACTTTACTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA
CTATTTATTTTATTTTATTTTTTTTACTTTACTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA,T
208769.67
9
110701661
rs373121863
ATTTATTTTATTTTATTTTTTTTACTTTACTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT
TTTTATTTTATTTTATTTTTTTTACTTTACTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT,ATTTATTTTAT,ATTTATTTTATTTTAT,ATTTAT,A
492847.21
9
110701674
.
TATTTTTTTTACTTTACTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA
T,TTTTTATTTTATTTTATTTTATTTTATTTTA,TTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA
302036.06
9
110701679
rs375050760
TTTTTACTTTACTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA
ATTTTACTTTACTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA,T
371876.98
9
110701683
.
TACTTTACTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA
T
750841.38
9
110701692
.
TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA
GTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA,TTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA,T
622325.38
9
110701694
.
ATT
AT,A
204156.30
9
110701695
rs547642183
T
C,G
206542.02
9
110701696
.
T
G,A
203549.34
9
110701697
.
T
C,G
199543.97
9
110701698
.
TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA
T,CATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA
208316.79
9
110701699
.
AT
A
197473.39
9
110701700
.
T
C
137275.84
9
110701701
.
T
G
136725.67
9
110701702
.
T
G
136722.40
9
110701703
.
T
C,A
207485.55
9
110701704
.
ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT
TTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT,ATTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT,ATTTATTTTATTTTATTTTATTTTATTTTATTTTAT,A
300262.12
9
110701706
.
T
G
138490.51
9
110701707
.
T
G
139335.64
9
110701708
rs375543708
TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA
CATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA,T
207459.21
9
110701709
.
AT
A
139296.02
9
110701711
.
T
G
139072.51
9
110701712
.
T
G
139695.19
9
110701713
.
T
C
145756.19
9
110701714
.
AT
A
201429.25
9
110701716
.
T
G
138598.77
9
110701717
.
T
G
138914.32
9
110701718
.
T
C
144918.91
9
110701719
.
ATTTT
ATTT,A
239856.94
9
110701722
.
T
G
138649.21
9
110701723
.
T
C
144319.93
9
110701724
.
AT
TT,A
199142.34
9
110701726
.
T
A
138540.24
9
110701728
.
T
C
143497.28
9
110701729
.
ATTT
A,TTTT
199415.81
9
110701733
.
T
C
141258.18
9
110701734
.
ATTT
A
199586.33
9
110701736
.
T
A
139771.28
9
110701738
.
T
C
242113.26
9
110701739
.
ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT
TTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT,A,ATTATTTTATT
240629.38
9
110701743
.
T
C
141295.20
9
110701744
.
ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT
A
200041.53
9
110701746
.
TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTCA
T
140036.14
9
110701748
.
T
C
141318.66
9
110701749
.
A
T
139985.27
9
110701753
.
T
C
141015.85
9
110701758
.
T
C
140667.90
9
110701759
.
A
T
139947.80
9
110701763
.
T
C
140260.41
9
110701764
.
A
T
200355.53
9
110701768
.
T
C
200443.12
9
110701779
.
ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT
A,TTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT,ATTTAT
278343.05
9
110701784
.
A
T
123092.85
9
110701789
.
A
T
110059.58
9
110701799
.
A
T
144437.31
9
110701877
.
T
A
1723.87
9
110701890
.
T
A
326.71
9
110701896
.
T
G
674.47
9
110701899
rs771622968
A
C
246.37
9
110701902
rs559686340
T
C
4111.03
9
110701904
.
A
C
178.28
9
110701907
.
T
C
447.33
9
110701910
.
T
A
196.18
9
110701912
rs533300716
T
C
5745.39
9
110701915
.
T
C
273.32
9
110701917
.
T
C
364.84
9
110701918
rs551050896
T
TATTTTATTTC
338.80
9
110701921
.
T
G
1565.15
9
110701922
rs558167884
T
A
1676.31
9
110701923
rs564927129
T
TATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTC,C,TATTTCATTTC,TATTTC,TATTTCATTTCATTTCATTTC
8213.04
9
110701924
.
A
G
275.58
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
110701694
rs547642183
AT
AC,A
.
9
110701703
.
TA
T,TG
.
9
110701708
rs375543708
T
C
.
9
110701709
.
A
G
.
9
110701711
.
T
G
.
9
110701714
.
A
T
.
9
110701714
.
AT
A
.
9
110701718
.
T
C
.
9
110701738
.
T
C
.
9
110701758
.
T
C
.
9
110701854
.
AT
A
.
9
110701859
.
AT
A
.
9
110701864
.
AT
AA,A
.
9
110701869
.
A
T
.
9
110701869
rs201460236
AT
AA,A
.
9
110701872
.
T
C
.
9
110701874
.
AT
A
.
9
110701879
.
A
T
.
9
110701879
.
AT
AA,A
.
9
110701884
.
AT
A
.
9
110701889
.
AT
AA,A
.
9
110701893
rs568383142
T
C
.
9
110701899
rs771622968
AT
A
.
9
110701902
rs559686340
T
C
.
9
110701903
rs535664517
T
C
.
9
110701908
rs547539344
T
C
.
9
110701912
rs533300716
T
C
.
9
110701913
rs565882917
T
C
.
9
110701914
.
AT
A
.
9
110701918
rs551050896
T
C
.
9
110701922
rs558167884
T
A
.
9
110701923
rs564927129
T
C
.
9
110701924
.
A
C
.