| General information of RDP00587 | |
|---|---|
| Gene Symbol: | CPA6 |
| RefSeq ID: | NM_020361 |
| Repeat coordinate: | chr8:67607171-67607252 (-) |
| Repeat size: | 27 |
| Repeat region: | intron |
| Repeat unit: | GAA |
| 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 |
| Febrile seizures, familial, 11, 614418 (3) | 609562 | 8q13.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Benign familial mesial temporal lobe epilepsy | NM_020361 | 0.30 | 1 | 0 | ORPHANET |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
67607114
.
CCTCCTCCTCCTCCTCCTCCTCCCCCTCCTCCCCCCCCTCCTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT
C
4094.49
8
67607123
.
CCTCCTCCTCCTCCCCCTCCTCCCCCCCCTCCTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT
C
654.65
8
67607154
.
CTCTTCTTCTTCTTCCTCT
CCTTCTTCTTCTTCCTCT,CTCCTCT,C
3203.60
8
67607169
rs10103594
CTCTTCTTCTTCTTCTTCTTCT
CTCT,CTCTTCT,C,CTCTTCTTCT,CTCTTCTTCTTCTTCT,CTCTTCTTCTTCT
942672.88
8
67607171
.
CTTCTTCTTCTT
C
1325082.82
8
67607172
rs868341901
T
C
1345074.78
8
67607173
.
T
C
1245012.23
8
67607174
.
CTT
C
1257630.25
8
67607175
rs867220212
T
C
1267207.30
8
67607177
.
CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT
CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT,CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT,CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT,C,CTCTTCTTCTTCTTCTTCTTCT
1172021.30
8
67607178
rs200056565
T
C
1168497.55
8
67607179
.
T
C
1026850.71
8
67607180
.
CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT
CTCTTCTTCT,CTCTTCTTCTTCT,CTCTTCTTCTTCTTCT,C,CTCTTCTTCTTCTTCTTCT
1043897.73
8
67607181
rs12546731
T
C
1026273.26
8
67607183
.
CTT
C
903321.11
8
67607184
rs10448030
T
C
923751.68
8
67607185
rs551733592
T
C
759175.61
8
67607186
.
CTTCTTCTTCTTCTTCT
C
755911.48
8
67607187
rs528013692
T
C
770767.25
8
67607190
rs546168373
T
C,TTCC
597750.12
8
67607193
rs566155142
T
C
441865.19
8
67607195
.
CT
C
358897.11
8
67607196
rs868628238
T
C
362887.40
8
67607197
.
T
C
260455.83
8
67607199
rs866111845
T
C
261732.71
8
67607200
.
T
C
165314.05
8
67607201
.
CT
C
167658.31
8
67607202
rs866798475
T
C
170023.11
8
67607203
.
T
C
101078.87
8
67607204
.
CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT
CCTT,C,CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT
104536.90
8
67607205
rs868576743
T
C
104687.97
8
67607206
.
T
C
80454.80
8
67607207
.
CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT
C
80468.58
8
67607208
rs865871634
T
C
81262.62
8
67607209
.
T
C
72524.23
8
67607210
.
CT
C
74701.64
8
67607211
.
T
C
74491.87
8
67607212
.
T
C
68120.31
8
67607213
.
CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT
CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,C
77315.19
8
67607215
.
T
C
69214.23
8
67607216
.
CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT
C,CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT
84806.49
8
67607218
.
T
C
75642.38
8
67607219
.
CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT
C,CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,CCTTCTT
95168.53
8
67607221
.
T
C
83541.92
8
67607222
.
CTTCTTCTTCTTCTTCTTCTTCTTCTTCTT
CTCTTCTTCTTCTTCTTCTTCTTCTTCTT,C,CCTTCTTCTT
98470.19
8
67607224
.
T
C
94939.46
8
67607225
.
CTTCTTCTTCTTCTTCTTCTTCTTCTT
CTCTTCTTCTTCTTCTTCTTCTTCTT,C
107287.98
8
67607226
rs574412830
T
C
108360.73
8
67607228
.
CTTCTTCTTCTTCTTCTTCTTCTT
CTCTTCTTCTTCTTCTTCTTCTT,C
70702.15
8
67607229
.
T
C
70498.01
8
67607230
.
T
C
47319.23
8
67607231
rs58503416
CTTCTTCTTCTTCTTCTTCTT
C,CTCTTCTTCTTCTTCTTCTT,GTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTGTTCTTCTTCTTCTTCTTCTT
90012.81
8
67607233
.
TCTTCTTCTTCTTCTTCTTCTC
CCTTCTTCTTCTTCTTCTTCTC,T
70201.56
8
67607234
rs61418447
CTTCTTCTTCTTCTTCTT
C,CTCTTCTTCTTCTTCTT,CCTT,CCTTCTTCTT,CCTTCTTCTTCTT
114429.72
8
67607236
.
TCTTCTTCTTCTTCTTCTC
CCTTCTTCTTCTTCTTCTC,T
89664.05
8
67607237
.
CTTCTTCTTCTTCTT
CTCTTCTTCTTCTT,CCTT,C,CCTTCTTCTTCTT,CCTTCTTCTT
182061.66
8
67607239
.
TCTTCTTCTTCTTCTC
CCTTCTTCTTCTTCTC,T
127952.49
8
67607240
rs535555779
CTTCTTCTTCTT
C,CTCTTCTTCTT,CCTTCTTCTT,CCTT
221059.19
8
67607241
.
T
TCC
221266.09
8
67607242
rs376882172
TCTTCTTCTTCTC
CCTTCTTCTTCTC,TCCTTCTTCTTCTC,TTTCTTCTTCTC,T
244951.05
8
67607243
.
CTTCTTCTT
CTCTTCTT,C,CCTT,CCTTCTT
207945.77
8
67607244
.
TTCTTCTTC
TCCTCTTCTTC,T
209424.34
8
67607245
rs187396049
T
C,TC
319043.45
8
67607246
.
CTTCTT
C,CTCTT,CCTT
202906.07
8
67607247
rs868699441
T
TCC
210690.31
8
67607248
rs192046511
TCTTCTC
CCTTCTC,TCCTTCTC,TCCTCCTTCTC,T
332296.26
8
67607249
.
CTT
C
190858.88
8
67607250
.
T
TCC,TTCTTCTTCTTCC,C,TTCTTCTTCTTCTTCC
205187.95
8
67607251
rs112422502
T
TCTC,C,TCTCCTCCTCCTC,TCCTCCTC,TCTCCTCCTC
1021260.59
8
67607252
.
CTCCTCCTCCTCCTTTCTTCT
C
4489.45
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
67607172
.
T
C
.
8
67607175
.
T
C
.
8
67607178
rs200056565
T
C
.
8
67607181
rs12546731
T
C
.
8
67607184
rs10448030
T
C
.
8
67607185
rs551733592
T
C
.
8
67607186
.
CTTCTTCTTCTTCTTCTTC
CCTCCTCCTCCTCCTCCTC,T
.
8
67607187
rs528013692
T
C
.
8
67607190
rs546168373
T
C
.
8
67607193
rs566155142
T
C
.
8
67607194
.
T
C
.
8
67607195
.
C
CT
.
8
67607196
.
T
C
.
8
67607197
.
T
C
.
8
67607198
.
CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT
C
.
8
67607199
.
T
C
.
8
67607200
.
T
C
.
8
67607202
.
T
C
.
8
67607203
.
T
C
.
8
67607205
.
T
C
.
8
67607206
.
T
C
.
8
67607208
.
T
C
.
8
67607209
.
T
C
.
8
67607211
.
T
C
.
8
67607212
.
T
C
.
8
67607214
.
T
C
.
8
67607214
.
TT
CT
.
8
67607217
.
T
A
.
8
67607218
.
T
C
.
8
67607218
.
TCTTCT
TCCTCT
.
8
67607220
rs528949817
T
C
.
8
67607221
.
T
C
.
8
67607222
.
CTT
C
.
8
67607223
.
T
C
.
8
67607226
rs574412830
T
C
.
8
67607228
.
C
T
.
8
67607229
.
T
C
.
8
67607231
rs58503416
CT
CC,C
.
8
67607233
.
T
C
.
8
67607234
rs61418447
CTTCTTCTTCTTCTTCTT
C
.
8
67607235
.
T
C
.
8
67607239
.
T
C
.
8
67607239
.
TCTT
TTC
.
8
67607240
rs535555779
C
T
.
8
67607240
.
CTT
TC
.
8
67607240
.
CTTCTTCTTCTT
CTCCTCCTCCTC,CTTCTCCTCCTC,CTTCTTCTTCTC,TCCTCCTCCTC
.
8
67607242
rs376882172
T
C
.
8
67607245
rs187396049
T
C
.
8
67607248
rs192046511
T
C
.
8
67607248
.
TCTT
CCTC,TCTC
.
8
67607251
rs112422502
T
C
.