| General information of RDP00158 | |
|---|---|
| Gene Symbol: | PGAP1 |
| RefSeq ID: | NM_001321099 |
| Repeat coordinate: | chr2:196926629-196926647 (-) |
| Repeat size: | 6 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.001; 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 |
| Mental retardation, autosomal recessive 42, 615802 (3) | 611655 | 2q33.1 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Autosomal recessive spastic paraplegia type 67 | NM_001321099 | 0.30 | 1 | 0 | ORPHANET |
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
196926626
.
ACCACCGCCG
A
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
196926619
rs752609781
TGCCGCCACCACCGCCGCCGCC
T,TGCCGCCACCACCGCCGCCACCACCGCCGCCGCC,TGCCGCCGCC,TGCC
8927.28
2
196926626
rs756048036
ACCACCGCCG
A,GCCACCGCCG
39558.41
2
196926629
rs777621823
ACCGCCGCCGCCG
ACCGCCGCCG,ACCGCCGCCGCCGCCGCCG,ACCGCCG,ACCGCCGCCGCCGCCG,A
334367.80
2
196926630
.
C
T
87840.60
2
196926631
rs566621525
C
T
88651.35
2
196926632
.
G
A
101047.33
2
196926635
.
G
A
60738.28
2
196926640
rs535593204
C
T
72529.13
2
196926641
.
G
A
14870.39
2
196926647
rs776971936
G
GCCC
358.82
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
196926626
rs756048036
ACCACCGCCG
A
2044.04
2
196926629
rs777621823
ACCGCCGCCGCCG
ACCGCCGCCGCCGCCG,GCCGCCGCCGCCG,ACCGCCGCCGCCGCCGCCG,A
23061.04
2
196926630
.
C
T
5027.80
2
196926640
rs535593204
C
T
919.10
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
196926619
rs781125212
TGCCGCCACCACCGCCGCC
T
.
2
196926619
rs752609781
TGCCGCCACCACCGCCGCCGCC
T
.
2
196926626
rs756048036
ACCACCGCCG
A
.
2
196926629
.
ACCG
A
.
2
196926629
rs758440286
ACCG
A
.
2
196926629
rs745913420
ACCGCCG
A
.
2
196926629
rs747244221
ACCGCCGCCG
A
.
2
196926629
rs768924149
ACCGCCGCCGCCG
ACCG,ACCGCCG,ACCGCCGCCG,ACCGCCGCCGCCGCCG,ACCGCCGCCGCCGCCGCCG,A
.
2
196926631
rs566621525
C
T
.
2
196926640
rs535593204
C
T
.
2
196926647
rs776971936
G
GCCC
.