| General information of RDP00589 | |
|---|---|
| Gene Symbol: | PLPPR1 |
| RefSeq ID: | NM_207299 |
| Repeat coordinate: | chr9:101078103-101078184 (+) |
| Repeat size: | 27 |
| Repeat region: | intron |
| Repeat unit: | GAA |
| Repeat conservation: | PhastCons_score: 0.001; 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 DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Generalized Absence Seizures | NM_207299 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
101078096
.
GAGAAGGAGAAGAAGAAGAAGA
GAGA,G,GAGAAGA
3314.06
9
101078104
.
GAA
G
788907.90
9
101078105
.
A
AAGGAGAAGG,AAGG,AAGGAGAAGGAGAAGGAGAAGG,AAGGAGAAGGAGAAGG,AAGGAGAAGGAGAAGGAGAAGGAGAAGG
854381
9
101078106
.
A
AG
741575.88
9
101078107
.
GAA
G,GA
493353
9
101078108
rs13300211
A
G,AGAAGG,AGAAGGAGAAGGAGAAGGAGAAGG,AGAAGGAGAAGG,AGAAGGAGAAGGAGAAGG
2382161.98
9
101078110
.
GAAGAAGAAGAAGAAGA
GAGAAGA,GAGAAGAAGAAGA,G,GAGA,GAGAAGAAGAAGAAGA
446911.01
9
101078111
.
A
G
552471.40
9
101078112
.
A
G
405278.90
9
101078113
.
G
GAAGAAA
444027.13
9
101078114
rs13300214
A
G
2340098.33
9
101078115
.
A
G
354739.63
9
101078117
rs548024967
A
G
436291.30
9
101078118
.
A
G
265838.68
9
101078120
rs13300220
A
G
2093636.14
9
101078121
.
A
G
150604.19
9
101078123
.
A
G
196228.38
9
101078124
.
A
G,AG
102077.20
9
101078126
rs2988366
A
G,AGAAAG
1778430.90
9
101078129
.
A
G
29521.19
9
101078130
.
A
G
13933.10
9
101078132
rs184561529
A
G
645365.68
9
101078133
.
A
G
3295.56
9
101078135
.
A
G
2815.38
9
101078136
.
A
G
1836.69
9
101078138
rs188180947
A
G
28714.22
9
101078139
.
A
G
14830.91
9
101078141
.
A
G
706.17
9
101078142
.
A
G
939
9
101078144
.
A
G
5003.22
9
101078145
.
AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAGGGGG
GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAGGGGG,A
6087.82
9
101078147
.
A
G
655.73
9
101078148
.
A
G
895.65
9
101078150
.
A
G
816.29
9
101078151
.
A
G
746.94
9
101078154
.
A
G
1444.93
9
101078156
.
A
AGGGGGG
482.04
9
101078157
.
A
G
925.53
9
101078160
rs867090464
AGAAGAAGAAGAAGAAGAAGAAGAAGAGGAGGGGG
GGAAGAAGAAGAAGAAGAAGAAGAAGAGGAGGGGG,A
4260.44
9
101078163
rs867384029
A
G
2655.25
9
101078164
.
GA
G
5204.93
9
101078166
rs866429475
A
G
8544.38
9
101078167
.
GAAGAAGAAGAAGAAGAA
GAGAAGAAGAAGAAGAA,GGAA,G
8275.44
9
101078169
rs866782403
AGAAGAAGAAGAAGAAGAG
GGAAGAAGAAGAAGAAGAG,A
7762.16
9
101078170
.
GAAGAAGAAGAAGAA
G
5266.44
9
101078172
.
AGAAGAAGAAGAAGAG
A,GGAAGAAGAAGAAGAG
33458.03
9
101078173
.
GA
G,AA
13331.33
9
101078175
rs866220551
AGAAGAAGAAGAG
A,GGAAGAAGAAGAG
35557.50
9
101078176
.
GAAGAAGAA
GA,G,GGAA,GAGAAGAA
25769.41
9
101078178
rs868856225
AGAAGAAGAG
A,GGAAGAAGAG
62590.87
9
101078179
.
GAAGAA
G
39682.07
9
101078181
rs866059549
AGAAGAG
A
66110.35
9
101078182
.
GAA
G
49965.25
9
101078184
.
AGAG
A,GGAG
166700.55
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
101078102
rs762571953
GAGAAGAAGAAGAAGAAGAAGAAGA
G
.
9
101078103
.
AGAAGA
AGAAGG
.
9
101078106
.
AGA
AGG
.
9
101078108
rs13300211
A
G
.
9
101078108
.
AAGA
GAGA
.
9
101078108
.
AAGAAGA
GAGAAGG
.
9
101078108
.
AAGAAGAAGAAGA
GAGAAGGAGAAGG
.
9
101078111
.
AAGA
AAGG
.
9
101078114
rs13300214
A
G
.
9
101078114
.
AA
GA
.
9
101078114
.
AAGA
GAGA
.
9
101078114
.
AAGAAGA
GAGAAGG
.
9
101078114
.
AAGAAGAAGAAGA
GAGAAGGAGAAGG
.
9
101078117
rs548024967
A
G
.
9
101078117
.
AAGA
AAGG
.
9
101078118
.
AGA
AGG
.
9
101078119
.
GAAGAAGA
GGAGAAGG
.
9
101078120
rs13300220
A
G
.
9
101078120
.
AAGA
GAGA
.
9
101078120
.
AAGAAGA
GAGAAGG
.
9
101078123
.
A
G
.
9
101078123
.
AAGA
AAGG
.
9
101078124
.
AGA
GG
.
9
101078126
rs2988366
A
G
.
9
101078126
.
AAGAAGA
GAGAAGG
.
9
101078128
.
GAAGAAGA
GAAGGAGA
.
9
101078129
.
A
G
.
9
101078132
rs184561529
A
G
.
9
101078133
.
AGAAGAAGAAGAAGAA
AGAAAGAAGAAGAA
.
9
101078135
.
A
G
.
9
101078135
.
AAG
A
.
9
101078136
.
A
G
.
9
101078138
rs188180947
A
G
.
9
101078141
.
A
G
.
9
101078144
.
A
G
.
9
101078145
.
AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG
GGGGGG
.
9
101078147
.
A
G
.
9
101078150
.
A
G
.
9
101078150
.
A
AAG
.
9
101078151
.
AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA
AGAAGAAGAGGGGG
.
9
101078152
.
GAA
G
.
9
101078153
.
AAG
A
.
9
101078156
.
A
G
.
9
101078160
.
A
G
.
9
101078161
.
G
A
.
9
101078162
.
A
G
.
9
101078163
.
A
G
.
9
101078166
.
A
G
.
9
101078175
.
A
G
.
9
101078177
.
AAGAAGAAGAGGAGG
AAGAAGAAGAAGAGG
.
9
101078178
.
A
G
.
9
101078181
.
A
G
.
9
101078181
.
AGAAGAGGAGGGGGGGAGGGGGAG
AGAAGAGGGGGGGAGGGGGAG
.
9
101078182
.
GAAGAGGAGGGGGGGA
GAAGAAGAGGGGGGGA
.
9
101078184
.
A
G
.
9
101078184
.
AGAG
A,AGAA
.
9
101078184
.
AGAG
A,AGAA
.