| General information of RDP00018 | |
|---|---|
| Gene Symbol: | PRKG1 |
| RefSeq ID: | NM_001098512 |
| Repeat coordinate: | chr10:50991311-50991341 (+) |
| Repeat size: | 10 |
| Repeat region: | 5' UTR |
| Repeat unit: | CCG |
| Repeat conservation: | PhastCons_score: 0.073; 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 |
| Aortic aneurysm, familial thoracic 8, 615436 (3) | 176894 | 10q11.2-q21.1 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Familial thoracic aortic aneurysm and aortic dissection | NM_001098512 | 0.60 | 3 | 0 | CLINGEN;GENOMICS_ENGLAND;ORPHANET |
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
50991328
rs35361017
C
CGCT
.
10
50991333
~rs67900156
CCG
C
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
50991330
.
C
CCGT
197.40
10
50991331
rs750923304
C
T
5032.90
10
50991332
.
G
GCCA
203.48
10
50991334
rs758512430
C
T
4677.03
10
50991337
rs779866456
C
CGCG,G,CGCT
7841.81
10
50991341
.
G
A
143.72
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
50991310
rs778978323
AGCCGCCGCCGCC
AGCC,AGCCGCCGCCGCCGCC,AGCCGCCGCCGCCGCCGCCGCCGCC,AGCCGCCGCCGCCGCCGCC,A,AGCCGCCGCCGCCGCCGCCGCCGCCGCC
10849107.65
10
50991312
.
C
CCGA
3864568.64
10
50991315
.
C
CCGA
3857080.52
10
50991323
.
G
A
11105.97
10
50991326
.
G
A
5084.26
10
50991328
rs35361017
C
CGCT,T,CGCTGCCGCCGCCGCCGCCGCCGCT,CGCCGCCGCT,CGCTGCCGCCGCCGCCGCCGCCGCCGCT
4568101.90
10
50991331
rs750923304
C
T
217.11
10
50991334
rs758512430
C
CGCA,T
1695.19
10
50991337
rs779866456
C
CGCG,CGCT
21447.64
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
50991310
.
AGCCGCCGCC
A
.
10
50991310
.
AGCCGCC
A
.
10
50991310
rs778978323
AGCCGCCGCC
A,AGCCGCCGCCGCC,AGCCGCCGCCGCCGCC,AGCCGCCGCCGCCGCCGCC,AGCCGCCGCCGCCGCCGCCGCC
.
10
50991310
.
AGCCGCCGCCGCC
A,AGCC,AGCCGCCGCCGCCGCC
.
10
50991317
.
G
C
.
10
50991318
.
CCGCCGCCGCC
CCGCCGCCGCCGCT
.
10
50991319
.
CGCCGCCGCC
CGCCGCCGCCGCT
.
10
50991320
.
GCCGCCGCC
GCCGCCGCCGCT
.
10
50991322
.
CGCCGCC
CGCCGCCGCT
.
10
50991323
.
GCCGCC
GCCGCCGCT
.
10
50991324
.
CCG
CCC
.
10
50991324
.
CCGCCGCC
CCGCCGCTGCC
.
10
50991325
.
CGCC
CGCCGCT
.
10
50991326
.
GCC
GCCGCT
.
10
50991328
rs12781400
C
CGCT,T
.
10
50991328
rs71029335
C
CGCT
.
10
50991331
rs750923304
C
T
.
10
50991334
rs758512430
C
T
.
10
50991335
.
G
GC
.
10
50991337
rs779866456
C
CGCG
.