| General information of RDP00339 | |
|---|---|
| Gene Symbol: | POU3F3 |
| RefSeq ID: | NM_006236 |
| Repeat coordinate: | chr2:104856391-104856409 (+) |
| Repeat size: | 6 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.954; 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 |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 | NM_006236 | 0.30 | 1 | 0 | GENOMICS_ENGLAND |
| Mapping repeat track to 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
104856391
.
ACGGCGGCGG
ACGGCGGCGGCGG,A
100
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
104856391
.
ACGG
A
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
104856390
rs765802779
CACGGCG
C
370.96
2
104856391
rs758735626
ACGGCGGCGG
ACGGCGG,ACGG,A,ACGGCGGCGGCGG,ACGGCGGCGGCGGCGG
407069.90
2
104856393
rs577550493
G
A
409905.94
2
104856403
.
G
T
4191.99
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
104856391
rs758735626
ACGG
A,ACGGCGGCGGCGG,ACGGCGG,ACGGCGGCGG
7327.19
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
104856390
rs765802779
CACGGCG
C
.
2
104856391
.
ACGG
CCGG
.
2
104856391
rs750777878
ACGG
A
.
2
104856391
rs751766792
ACGGCGG
A
.
2
104856391
rs550439793
ACGGCGGCGG
ACGG,ACGGCGG,ACGGCGGCGGCGG,ACGGCGGCGGCGGCGG,A
.
2
104856392
.
C
CG
.
2
104856393
rs577550493
G
A
.
2
104856394
.
G
GC
.
2
104856394
.
G
GC
.
2
104856395
.
C
CG
.
2
104856397
.
G
GC
.
2
104856397
.
G
GC
.
2
104856404
rs372442573
C
G,T
.
2
104856407
.
C
T
.