| General information of RDP00561 | |
|---|---|
| Gene Symbol: | KIRREL3 |
| RefSeq ID: | NM_001161707 |
| Repeat coordinate: | chr11:126923189-126923267 (-) |
| Repeat size: | 26 |
| 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 DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Mental Retardation, Autosomal Dominant 4 | NM_001161707 | 0.40 | 1 | 0 | GENOMICS_ENGLAND |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
11
126923122
rs111641819
CCTTCTTCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCTTCTTCTTCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT
CTCTTCTTCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCTTCTTCTTCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,TCTTCTTCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCTTCTTCTTCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,CCTTCTTCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,C
314402.04
11
126923181
rs754506687
CTTCTTCTCTTCTTCTTCTTCT
C,CTCTTCTCTTCTTCTTCTTCT
413195.89
11
126923184
.
CTTCTCTTCTTCTTCTTCTTCT
CTCTTCTTCT,C,CTCTTCT,CTCT
351365.97
11
126923189
rs201127582
CTT
C,TTT
582960.08
11
126923190
rs202191802
T
TTCTTCTTC,C,TTC,TTCTTCTTCTTC,TTCTTCTTCTCC
253362.75
11
126923191
rs71051415
TC
T,TCTTCTTCTTCTCTTCTTCTTCTTCTAC,TCTTCTTCTTCTAC
342399.80
11
126923192
rs767538927
CTTCTTCT
CTCTTCT,CTCT,CTTTTCTTCT,C
135672.58
11
126923193
.
T
TTCTTC,TTC,TTCTTCTTC
125930.74
11
126923194
.
TC
TCTTCTTCTCTTCTTCTTCTTCTAC,T,TCTTCTTCTAC
277133.71
11
126923195
.
CT
C,CTTT
178390.05
11
126923196
.
T
TTC,TTCTTC,TTCTTCTTTTCTTCTTCTTC
182422.69
11
126923197
.
TC
TCTTCTCTTCTTCTTCTTCTAC,T,TCTTCTAC
144619.06
11
126923198
.
CTTCTTCTTCTTCTTCTTCT
CTCTTCTTCTTCTTCTTCT,CTCTTCTTCTTCTTCT,CTCTTCT,C,CTCTTCTTCT
259435.42
11
126923199
.
T
TTC,TCC
371819.42
11
126923200
.
TC
TCTCTTCTTCTTCTTCTAC,TCTAC,T
159942.25
11
126923201
.
CTTCTTCTTCTTCTTCTTCT
CTCTTCTTCTTCTTCT,CTCTTCTTCTTCTTCTTCT,C,CTCTTCTTCTTCT,CTCTTCTTCT
698028.51
11
126923202
.
T
TTC,TTCTTC,C,TCC,TTCTTCTCC
682613.13
11
126923203
rs192257935
TC
T,AC,TCTTCTTCTCC
264260.78
11
126923204
.
CTTCT
C,CTCT
368330.65
11
126923205
.
T
TTC,TTCTTC,C,TCC
323394.18
11
126923206
.
TC
TCTTCTTCTAC,AC,T
251217.29
11
126923207
rs757604746
CTTCT
CTCT,C,TTTCT
330701.46
11
126923208
.
T
TTC,TCC,TCTTCTTCTTCTTC,C
321742.44
11
126923209
rs866145019
TC
TCTTCTAC,CC,TCTCC,T
120240.30
11
126923210
.
CTTCTTCTTCT
CTCTTCTTCT,CTCTTCT,CTCT,C,ATTCTTCTTCT
197127.04
11
126923211
.
T
TTC,C
222247.71
11
126923212
rs184217140
T
C,TCTA
98300.49
11
126923213
.
CTTCTTCTTCT
CTCTTCTTCT,CTCTTCT,CTCT,C
146508.54
11
126923214
.
T
TTC
149125.09
11
126923215
rs867477553
T
A,TCTTCTC
113584.40
11
126923216
.
CTTCT
CTCT,C
229816.26
11
126923217
.
T
TTC
208872.85
11
126923218
.
T
A,TCTC
82449.96
11
126923219
rs71051416
CTTCT
CTCT,C
117254.51
11
126923220
.
T
TTC
107640.69
11
126923221
.
TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC
T,ACTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC,CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC,TCTACTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC
33461.61
11
126923222
.
CT
C,CTT
90184.26
11
126923223
.
T
TTC
96085.80
11
126923224
.
TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC
T,ACTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC,CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC
29820.32
11
126923225
rs550571475
CT
C
64938.16
11
126923227
.
TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTC
CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTC,ACTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTC,TCTTCTC,T
35278.29
11
126923228
.
CT
C
70243.49
11
126923230
.
TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTC
CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTC,TCTTCTC,T
46741.91
11
126923231
rs55652747
CT
C
146319.43
11
126923233
.
TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC
T,ACTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC,CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC
30103.57
11
126923234
rs527918531
CT
C
91548.42
11
126923236
.
TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC
CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC,T,TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC,ACTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC,TTTCTTCTTCTTCTTCTTCTTCTC
48232.32
11
126923237
.
CT
C,GT
54068.78
11
126923239
rs866283649
TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTC
TTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTC,CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTC,TCTTCTC,TTTCTTCTTCTTCTTCTTCTTCTCCTTCTC,T
47855.44
11
126923240
.
CT
C
58756.24
11
126923242
.
TCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTC
CCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTC,TCTTCTC,TTTCTTCTTCTTCTTCTTCTTCTCCTTCTC,T
57573.13
11
126923243
rs747556225
CTT
C,CT
96821.13
11
126923245
rs866672667
TCTTCTTCTTCTTCTTCTTCTTCTCCTTCTC
TCTTCTC,CCTTCTTCTTCTTCTTCTTCTTCTCCTTCTC,TTTCTTCTTCTTCTTCTTCTTCTCCTTCTC,T
71664.94
11
126923246
rs55759985
CT
C,CTTT
91993.34
11
126923248
rs868458415
TCTTCTTCTTCTTCTTCTTCTCCTTCTC
T,TCTTCTC,CCTTCTTCTTCTTCTTCTTCTCCTTCTC
71185.75
11
126923249
rs367935407
CT
C
119157.69
11
126923251
rs866124203
TCTTCTTCTTCTTCTTCTCCTTCTC
TCTTCTC,T,CCTTCTTCTTCTTCTTCTCCTTCTC
170206.10
11
126923252
.
CT
C
154672.44
11
126923253
.
TTCTTCTTCTTCTTCTCCTTCTCC
T
153288.40
11
126923254
rs866783620
TCTTCTTCTTCTTCTCCTTCTC
TCTTCTC,T,CCTTCTTCTTCTTCTCCTTCTC
172967.44
11
126923255
rs756316709
CT
C
175690.89
11
126923256
.
TTCTTCTTCTTCTCCTTCTCC
T
175398.92
11
126923257
rs71470642
TCTTCTTCTTCTCCTTCTC
TCTTCTC,CCTTCTTCTTCTCCTTCTC,T
217188.70
11
126923258
rs779952710
CTTCTT
CTCTT,C,TTTCTT
220091.92
11
126923259
.
TTCTTCTTCTCCTTCTCC
CTCTTCTTCTCCTTCTCC,T
222585.39
11
126923260
rs868671838
TCTTCTTCTCCTTCTC
TCTTCTC,T,CCTTCTTCTCCTTCTC
248932.18
11
126923261
.
CT
C
288819.05
11
126923262
rs755048762
TTCTTCTCCTTCTCC
CTCTTCTCCTTCTCC,T
298274.56
11
126923263
rs71470643
TCTTCTCCTTCTC
CCTTCTCCTTCTC,TCTTCTC,T,TCTTCTCCTTCTCCTTCTC,TCTTCTCCTTCTCCTTCTCCTTCTC
711548.75
11
126923264
rs868117162
CT
C,TT,CTTCTTCTTCTCTT
493185.25
11
126923265
.
TTCTCCTTCTCC
T,CTCTCCTTCTCC
521519.83
11
126923266
rs868361482
TCTCCTTCTCCTTCTCCTTCTCCTTCTC
TCTTCTCCTTCTCCTTCTCCTTCTC,TCTTCTCCTTCTCCTTCTC,TCTTCTCCTTCTC,T
602666.99
11
126923267
.
CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT
CTTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT,C
605454.63
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
11
126923189
.
CT
CC,TC
.
11
126923189
.
CTT
C
.
11
126923190
rs202191802
T
C
.
11
126923191
rs71051415
TC
T
.
11
126923192
rs767538927
CT
C
.
11
126923198
.
CT
C
.
11
126923200
.
T
C
.
11
126923200
.
TC
T
.
11
126923201
.
CT
C
.
11
126923201
.
CTTCTTCTTCTTCT
C
.
11
126923203
rs192257935
T
A,C
.
11
126923205
.
T
C
.
11
126923207
rs757604746
CT
C
.
11
126923210
.
CT
C
.
11
126923212
rs184217140
T
C
.
11
126923215
.
T
C
.
11
126923216
.
CT
C
.
11
126923219
rs71051416
CT
C
.
11
126923222
.
CT
C
.
11
126923225
rs550571475
C
A
.
11
126923225
.
CT
C
.
11
126923228
.
CT
CC,C
.
11
126923231
rs55652747
CT
C
.
11
126923234
rs527918531
CT
C
.
11
126923236
.
T
C
.
11
126923237
.
CT
C
.
11
126923240
.
CT
C
.
11
126923242
.
T
C
.
11
126923243
rs747556225
CT
C
.
11
126923246
rs55759985
CT
C
.
11
126923248
.
T
C
.
11
126923249
rs367935407
CT
CC,C
.
11
126923250
rs750865946
T
TTCTTCTTC
.
11
126923251
.
T
C
.
11
126923252
.
CT
C
.
11
126923254
.
T
C
.
11
126923254
.
TC
T
.
11
126923255
rs756316709
CT
C
.
11
126923256
.
TTCTTCTTCTTCTCC
TTCTTCTCTTCTTCC
.
11
126923257
rs71470642
T
C
.
11
126923258
rs779952710
CT
C
.
11
126923260
.
T
C
.
11
126923262
rs755048762
TTCTTCTCCTTCTCC
T
.
11
126923263
rs71470643
T
C
.