| General information of RDP00540 | |
|---|---|
| Gene Symbol: | DPP6 |
| RefSeq ID: | NM_001039350 |
| Repeat coordinate: | chr7:154052987-154053005 (+) |
| Repeat size: | 6 |
| Repeat region: | intron |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.523; 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 |
| {Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3) | 126141 | 7q36.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 | NM_001039350 | 0.70 | 1 | 1 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
7
154052986
.
CGCG
C,TGCG
42490.84
7
154052991
rs529311878
C
G
23317.09
7
154052997
.
C
T
392.31
7
154053000
.
C
T
16199.27
7
154053003
.
C
T
3249.88
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
7
154052986
.
CGCGGCG
CGCGGCGGCG,CGCGGCGGCGGCG,C,CGCGGCGGCGGCGGCG,CGCG
106688.93
7
154052991
rs529311878
C
G
11698.28
7
154052995
.
G
A
549.87
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
7
154052991
rs529311878
C
G,T
.