| General information of RDP00265 | |
|---|---|
| Gene Symbol: | MPRIP |
| RefSeq ID: | NM_015134 |
| Repeat coordinate: | chr17:17136247-17136280 (+) |
| Repeat size: | 11 |
| Repeat region: | CDS |
| Repeat unit: | CAG |
| Repeat conservation: | PhastCons_score: 0.991; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | SSSSSSSSSS |
| 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 |
| Anorectal Malformations | NM_015134 | 0.30 | 1 | 0 | GENOMICS_ENGLAND |
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
17136245
rs748140943
TACC
T
2059.04
17
17136246
.
ACCAG
A
3521.56
17
17136247
rs749793483
CCAGCAGCAGCAGCAGCAG
CCAGCAGCAGCAG,CCAGCAGCAGCAGCAG,CCAGCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG,C
307498774.18
17
17136248
.
C
A
301215266.50
17
17136249
.
AG
A
301125029.69
17
17136250
.
G
C
301009727.82
17
17136251
rs750228252
CAGCAG
C,TAGCAG
162474781.42
17
17136254
.
C
T
8984635.82
17
17136257
rs758181851
C
T
1081990.34
17
17136258
.
A
G
1082395.43
17
17136265
rs779027681
G
GCAGCAGCAT
287759.42
17
17136267
.
A
AGCAGCAGCAGCT
58654.76
17
17136268
.
G
T
57996.97
17
17136274
rs746131212
G
GCAGCAT
15749.35
17
17136278
rs779792010
C
T
296.45
17
17136280
rs775450526
G
T
2501.11
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
17136247
rs749793483
CCAGCAGCAGCAGCAGCAG
CCAGCAGCAGCAGCAG,CCAGCAGCAGCAG,CCAGCAG,CCAGCAGCAGCAGCAGCAGCAG,C,CCAGCAGCAG
17113616.99
17
17136248
.
CAG
C
16703978.21
17
17136251
rs750228252
C
T
2701530.75
17
17136278
rs779792010
C
T
417.48
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
17136245
rs755726853
TACC
T
.
17
17136245
rs748140943
TACCAGC
T
.
17
17136247
rs35599326
CCAG
CCAGCAG,C
.
17
17136247
rs202138172
CCAGCAG
CCAG,C
.
17
17136247
rs778070715
CCAGCAGCAG
CCAGCAG,C
.
17
17136247
rs781578375
CCAGCAGCAGCAG
CCAGCAGCAG,C
.
17
17136247
rs770973489
CCAGCAGCAGCAGCAGCAG
CCAGCAG,CCAGCAGCAG,CCAGCAGCAGCAG,CCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG,C
.
17
17136248
.
C
T
.
17
17136250
.
G
C
.
17
17136251
rs750228252
C
T
.
17
17136257
rs758181851
C
T
.
17
17136265
rs779027681
G
GCAGCAGCAT
.
17
17136274
rs746131212
G
GCAGCAT
.
17
17136278
rs779792010
C
T
.
17
17136278
rs772377529
CA
C
.
17
17136280
.
G
T
.
17
17136280
rs775450526
GCA
G
.