| General information of RDP00303 | |
|---|---|
| Gene Symbol: | PPTC7 |
| RefSeq ID: | NM_139283 |
| Repeat coordinate: | chr12:110582936-110582954 (-) |
| Repeat size: | 6 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.934; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | GGGGG |
| 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 |
| Chemically-Induced Liver Toxicity | NM_139283 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
110582934
rs151075597
TCGC
T
.
12
110582950
~rs71083132
C
CG
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
110582934
rs35409332
TCGCCGCCGC
TCGCCGC,TCGC,T,TCGCCGCCGCCGC,TCGCCGCCGCCGCCGC,TCGCCGCCGCCGCCGCCGC
15087135.87
12
110582940
rs542124071
C
A
2731733.07
12
110582942
rs764629748
G
A
38928.43
12
110582945
.
G
A
3419.77
12
110582948
.
G
A
2035.27
12
110582950
.
C
T
574.58
12
110582953
rs754341495
C
A,T
3020.71
12
110582954
rs71083132
G
T,GCC
3414.50
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
110582934
rs35409332
TCGCCGCCGC
TCGCCGC,TCGC,TCGCCGCCGCCGC,T
1342722.86
12
110582940
rs542124071
C
A
13563.37
12
110582942
rs764629748
G
A
9316.78
12
110582950
.
C
T
203.50
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
110582934
.
TCGC
T
.
12
110582934
rs151075597
TCGC
T
.
12
110582934
rs768792198
TCGCCGC
T
.
12
110582934
rs776859280
TCGCCGCCGC
TCGC,TCGCCGC,TCGCCGCCGCCGC,T
.
12
110582940
rs542124071
C
A
.
12
110582942
rs764629748
G
A
.
12
110582953
rs754341495
C
A
.
12
110582954
rs71083132
G
GCCG,GCC
.