| General information of RDP00524 | |
|---|---|
| Gene Symbol: | PLXND1 |
| RefSeq ID: | NM_015103 |
| Repeat coordinate: | chr3:129605284-129605311 (-) |
| Repeat size: | 9 |
| Repeat region: | intron |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.002; 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 |
| Heart Failure, Diastolic | NM_015103 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
3
129605284
.
CCCG
CCCGCCG,C
100
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
3
129605284
.
CCCG
C
.
3
129605311
~rs3832259
G
GCCG
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
3
129605284
rs868545083
CCCGCCGCCGCCG
CCCGCCGCCGCCGCCG,CCCGCCGCCG,C,CCCGCCG,CCCG,CCCGCCGCCGCCGCCGCCG
470251.25
3
129605285
rs759389711
C
A
70199.60
3
129605287
.
G
C
103579.51
3
129605289
.
C
T
18360.92
3
129605290
.
G
C
28449.84
3
129605296
.
G
C
14984.65
3
129605299
.
G
A
1501.19
3
129605300
rs764874298
C
T
410.53
3
129605304
.
C
T
313.45
3
129605305
.
G
GCCGCCGCCA,T
27745.46
3
129605311
rs758492592
G
A,GCCA
2955.53
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
3
129605272
.
CCCGCCCCCGCCCCCGCCG
C
1694.88
3
129605278
.
CCCGCCCCCG
C
1005.82
3
129605284
rs868545083
CCCGCCGCCGCCG
CCCGCCGCCG,CCCGCCGCCGCCGCCG,CCCGCCGCCGCCGCCGCCGCCG,CCCG,C,CCCGCCGCCGCCGCCGCCG
1199775.71
3
129605285
rs759389711
C
A
85438.76
3
129605287
.
G
C,GCCC
73814.92
3
129605289
.
C
T
56471.12
3
129605290
.
G
C,GCCC
58608.03
3
129605293
.
G
C,GCCCCCGCCGCCT
53758.57
3
129605296
.
G
C
33618.48
3
129605299
.
G
C
1696.46
3
129605301
.
C
T
417.57
3
129605302
.
G
C
441.33
3
129605305
.
GCCGCCGCCA
CCCGCCGCCA,G,GCCGCCGCCACCGCCGCCA
2014.29
3
129605308
.
G
C,GCCGCCGCCA
1167.88
3
129605311
rs758492592
G
C,GCCA,A
1902.93
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
3
129605284
rs567090533
CCCG
CCCGCCG,C
.
3
129605284
rs750587401
CCCGCCG
C
.
3
129605284
rs765468352
CCCGCCGCCG
C
.
3
129605284
rs754112876
CCCGCCGCCGCCG
CCCG,CCCGCCG,CCCGCCGCCG,CCCGCCGCCGCCGCCG,CCCGCCGCCGCCGCCGCCG,C
.
3
129605285
rs759389711
C
A
.
3
129605300
rs764874298
C
T
.
3
129605311
rs758492592
G
GCCA
.