| General information of RDP00005 | |
|---|---|
| Gene Symbol: | DMPK |
| RefSeq ID: | NM_001081560 |
| Repeat coordinate: | chr19:45770204-45770264 (-) |
| Repeat size: | 20 |
| Repeat region: | 3' UTR |
| Repeat unit: | CTG |
| Repeat conservation: | PhastCons_score: 0.008; 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 |
| Myotonic dystrophy 1, 160900 (3) | 605377 | 19q13.32 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| MYOTONIC DYSTROPHY 1 | NM_001081560 | 0.70 | 4 | 1 | GENOMICS_ENGLAND;ORPHANET |
| Mapping repeat track to 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
45770204
.
CCAGCAGCAGCAGCAGCAGCAGCAGCAG
C
100
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
45770203
rs869149981
CCCA
CGCCA,C
1172.68
19
45770204
rs144131694
CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
C,CCAGCAGCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAGCAGCAG
17577727.03
19
45770205
.
CAGCAGCAGCAGCAGCAGCAGCAG
C
13256635.74
19
45770209
.
A
C
13214747.70
19
45770213
.
GC
G
13207846.23
19
45770214
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
C
13215466.52
19
45770215
.
A
AGCGGCAGCGGCAGCGGCAGCGGCAGCG,AGCG,AGCGGCAGCGGCAGCGGCAGCGGCAGCGGCAGCGGCAGCGGCAGCG
13232020.71
19
45770218
.
AGC
GGC,A,AGCGGCAGCGGCAGCGGCAGCGGC
13205497.23
19
45770219
.
GCAGCAGCAGCAGCAGCAGCAGCA
G
13173001.75
19
45770221
.
A
AGCGGCAGCGGCAGCGGCAGCGGCAGCGGCAGCGGCAGCGGCAGCGGCAGCGGCAGCG,AGCGGCAGCGGCAGCGGCAGCGGCAGCGGCAGCGGCAGCGGCAGCGGCAGCG,AGCGGCAGCGGCAGCGGCAGCGGCAGCGGCAGCG,AGCGGCAGCGGCAGCGGCAGCGGCAGCGGCAGCGGCAGCGGCAGCG
13177755.09
19
45770222
rs182516357
GC
G
13172090.21
19
45770224
.
A
G
12859908.15
19
45770226
.
C
G
11641598.74
19
45770227
.
AGC
GGC,A
11641671.18
19
45770230
.
AGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
GGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,A
9904289.54
19
45770231
.
G
T
9883564.72
19
45770232
.
C
CAGCAGCTGCA
7854065.45
19
45770233
.
A
G
7830674.08
19
45770236
.
A
G
7411471.69
19
45770239
.
A
G
7383068.99
19
45770241
.
CAGCAGCAGCAGCAGCAGCAG
C
7273183.31
19
45770242
.
A
G
7285844.75
19
45770243
.
GC
G
7284131.11
19
45770244
.
C
CAGCAGCAGCAGCAGCAGCAGCAGG
7189070.95
19
45770245
.
A
G
7220583.11
19
45770246
.
GCAGCAGCAGCAGCAGCAGCA
G
7197197.85
19
45770248
rs866180213
A
G
7141913.30
19
45770249
.
G
C
7134490.92
19
45770251
.
AGCAGCAGCAGCAGC
A,GGCAGCAGCAGCAGC
61643.94
19
45770254
.
A
G
6303.21
19
45770257
.
A
G
5397.35
19
45770260
.
A
G
4540.29
19
45770264
rs573703971
G
T,GCAGCAGCAGCAT,GCAGCAT,GCAGCAGCAGCAGCAGCAT,GCAGCAGCAGCAGCAT
13023.29
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
45770204
.
CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
C
.
19
45770204
.
CCAGCAG
C
.
19
45770204
.
CCAGCAGCAGCAG
C
.
19
45770204
.
CCAGCAGCAGCAGCAG
C
.
19
45770204
.
CCAGCAGCAGCAGCAGCAG
C
.
19
45770204
.
CCAGCAGCAGCAGCAGCAGCAG
CCAG,CCAGCAG,C
.
19
45770204
.
CCAGCAGCAGCAGCAGCAGCAGCAG
CCAG,CCAGCAG,C
.
19
45770204
rs71175220
CCAGCAGCAGCAGCAGCAGCAGCAGCAG
CCAG,CCAGCAG,CCAGCAGCAG,C
.
19
45770204
.
CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
CCAG,CCAGCAG,CCAGCAGCAG,C
.
19
45770204
.
CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
C
.
19
45770204
rs55938914
CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
CCAGCAGCAGCAGCAG,C
.
19
45770204
.
CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
CCAGCAGCAGCAGCAGCAG,C
.
19
45770204
.
CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
C
.
19
45770204
rs796909571
CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
CCAGCAG,CCAGCAGCAG,CCAGCAGCAGCAG,CCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,C
.
19
45770204
.
CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
CCAG,C
.
19
45770205
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
C
.
19
45770205
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
CA
.
19
45770205
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
CAGC
.
19
45770205
.
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CAGCAGCAGCAGCAGCA
.
19
45770205
.
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CAGCAG
.
19
45770205
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
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.
19
45770205
.
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CAGCAGCA
.
19
45770205
.
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19
45770205
.
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19
45770205
.
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.
19
45770205
.
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19
45770205
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
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.
19
45770205
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
CAGCAGCAGCAGCA
.
19
45770205
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
CAGCAGCAGCAGCAG
.
19
45770205
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
CAGCAGCAGCAGCAGC
.
19
45770205
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
CAGCAGCAGCAGCAGCA
.
19
45770205
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAT
CAGCAGCAGCAGCAGCAT
.
19
45770205
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCATT
CAGCAGCAGCAGCAGCATT
.
19
45770205
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCATTCC
CAGCAGCAGCAGCAGCATTCC
.
19
45770221
.
A
C
.
19
45770222
rs182516357
G
C,T
.
19
45770222
.
GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCATTCCCGGC
TTCCCGGC
.
19
45770223
rs186113085
C
T
.
19
45770224
.
A
C
.
19
45770225
rs191066362
G
C
.
19
45770240
.
G
T
.
19
45770241
.
C
T
.
19
45770242
.
A
C
.
19
45770243
.
G
C
.
19
45770243
.
GCAGCAGCAGCAGCAGCAGCAGCATT
TTC
.
19
45770245
.
A
C
.
19
45770246
.
G
C,T
.
19
45770248
.
A
C
.
19
45770249
.
G
C
.
19
45770264
rs573703971
G
T
.