| General information of RDP00400 | |
|---|---|
| Gene Symbol: | SOX11 |
| RefSeq ID: | NM_003108 |
| Repeat coordinate: | chr2:5693393-5693420 (+) |
| Repeat size: | 9 |
| Repeat region: | CDS |
| Repeat unit: | GAC |
| Repeat conservation: | PhastCons_score: 0.769; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | DDDDDDDDD |
| 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 dominant 27, 615866 (3) | 600898 | 2p25.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 27 | NM_003108 | 0.60 | 2 | 5 | GENOMICS_ENGLAND;UNIPROT |
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
5693393
.
GGAC
GGACGAC,G
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
5693393
rs761595190
GGACGACGACGAC
GGACGACGAC,GGACGAC,GGACGACGACGACGAC,GGACGACGACGACGACGAC,GGAC,G
3794136.20
2
5693395
rs767125292
A
G
3737898.07
2
5693399
.
C
A
237336.03
2
5693400
rs774871082
G
A,C
20533.13
2
5693402
rs761209390
C
T,G
19585.36
2
5693405
rs764724459
C
G,A
8853.52
2
5693409
.
G
A
1435.54
2
5693410
rs754220187
A
T
2112.07
2
5693411
rs757741965
C
T,A
2105.62
2
5693413
rs765361062
A
G
2750.55
2
5693414
rs750721557
C
T,A
1536.15
2
5693415
.
G
A
1483.67
2
5693418
.
G
A
43.77
2
5693420
.
C
A
640.38
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
5693393
rs761595190
GGACGACGACGAC
GGACGACGAC,GGACGACGACGACGAC,GGACGAC,GGAC,G
14055.90
2
5693395
rs767125292
A
G
11497.93
2
5693414
rs750721557
C
T
122.47
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
5693393
.
GGAC
G
.
2
5693393
rs746846042
GGAC
G
.
2
5693393
rs768398589
GGACGAC
G
.
2
5693393
rs776651535
GGACGACGAC
G,GGAC,GGACGAC,GGACGACGACGAC,GGACGACGACGACGAC,GGACGACGACGACGACGAC
.
2
5693395
rs767125292
A
G
.
2
5693400
rs774871082
G
C
.
2
5693402
rs761209390
C
G
.
2
5693405
rs764724459
C
G
.
2
5693410
rs754220187
A
T
.
2
5693411
rs757741965
C
A
.
2
5693413
rs765361062
A
G
.
2
5693414
rs750721557
C
A,T
.