| General information of RDP00225 | |
|---|---|
| Gene Symbol: | BPNT2 |
| RefSeq ID: | NM_017813 |
| Repeat coordinate: | chr8:56993636-56993654 (-) |
| Repeat size: | 6 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.175; 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 |
| Chondrodysplasia with joint dislocations, GPAPP type, 614078 (3) | 614010 | 8q12.1 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE | NM_017813 | 0.71 | 2 | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
56993636
rs780118272
CCCGCCGCCG
CCCGCCGCCGCCGCCG,CCCGCCG,CCCGCCGCCGCCG,CCCG,C
109191.32
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
56993636
rs780118272
CCCGCCGCCG
CCCGCCG,CCCGCCGCCGCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCG
120167.13
8
56993638
.
CGCCGCCGCCGCCGCCGCA
C
11964.28
8
56993647
.
CGCCGCCGCA
C
2697.43
8
56993652
.
C
A
1973.96
8
56993653
.
C
A
2096.22
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
56993636
rs756084314
CCCG
C
.
8
56993654
.
G
GC
.