| General information of RDP00544 | |
|---|---|
| Gene Symbol: | PLEC |
| RefSeq ID: | NM_000445 |
| Repeat coordinate: | chr8:143953448-143953475 (-) |
| Repeat size: | 9 |
| Repeat region: | intron |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.012; 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 |
| Muscular dystrophy, limb-girdle, type 2Q, 613723 (3) | 601282 | 8q24.3 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY | NM_000445 | 0.40 | 0 | 6 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
143953448
.
CCCGCCG
CCCGCCGCCG,CCCGCCGCCGCCGCCG,CCCG,CCCGCCGCCGCCGCCGCCG,C,CCCGCCGCCGCCG
1320651.95
8
143953451
.
G
A
77507.02
8
143953455
.
C
A
10946.21
8
143953456
.
C
A
10577.40
8
143953468
rs541444841
C
T
3188.70
8
143953473
.
C
T
470.47
8
143953474
.
C
CGCT,G,T
2924.33
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
143953448
.
CCCGCCG
C
.
8
143953448
.
CCCGCCGCCGCCGCCG
C
.
8
143953461
.
C
G
.
8
143953466
.
G
C
.
8
143953468
rs541444841
C
T
.