| General information of RDP00367 | |
|---|---|
| Gene Symbol: | FOXC1 |
| RefSeq ID: | NM_001453 |
| Repeat coordinate: | chr6:1611907-1611925 (+) |
| Repeat size: | 6 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.409; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | AAAAA |
| 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 |
| Axenfeld-Rieger syndrome, type 3, 602482 (3) | 601090 | 6p25.3 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| ANTERIOR SEGMENT DYSGENESIS 5 | NM_001453 | 0.40 | 1 | 1 | GENOMICS_ENGLAND |
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
1611906
.
CGCG
C
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
1611906
rs747574884
CGCGGCGGCG
CGCGGCG,CGCGGCGGCGGCGGCG,C,CGCG,CGCGGCGGCGGCG,CGCGGCGGCGGCGGCGGCG
793890.42
6
1611909
rs373281258
G
A
679891.16
6
1611910
.
G
A
196581.94
6
1611911
rs779015641
C
T
197337.99
6
1611914
rs767729842
C
T
84945.62
6
1611923
.
C
T
1277.46
6
1611924
.
G
GGCC
475.04
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
1611906
rs747574884
CGCGGCGGCG
CGCGGCG,C,CGCGGCGGCGGCGGCGGCG,CGCGGCGGCGGCG,CGCG
19751.55
6
1611914
rs767729842
C
T
1056.07
6
1611916
.
G
A
249.47
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
1611906
rs778279987
CGCG
C
.
6
1611906
rs771540524
CGCGGCG
C
.
6
1611906
rs772571278
CGCGGCGGCG
C,CGCG,CGCGGCG,CGCGGCGGCGGCG,CGCGGCGGCGGCGGCG,CGCGGCGGCGGCGGCGGCG
.
6
1611909
rs373281258
G
A
.
6
1611911
rs779015641
C
T
.
6
1611914
rs767729842
C
T
.
6
1611914
.
CGGC
CCGGC
.