| General information of RDP00366 | |
|---|---|
| Gene Symbol: | FOXC1 |
| RefSeq ID: | NM_001453 |
| Repeat coordinate: | chr6:1611782-1611806 (+) |
| Repeat size: | 8 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.399; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | GGGGGGG |
| 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 ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
1611782
193212
ACGG
A
.
6
1611794
289825
G
C
.
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
1611782
.
ACGG
A,ACGGCGG
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
1611782
rs572346201
ACGGCGGCGG
ACGGCGGCGGCGG,ACGGCGG,ACGG,ACGGCGGCGGCGGCGGCGG,A,ACGGCGGCGGCGGCGG
11486395.61
6
1611785
.
G
GCGGCGGCGGCGA
669569.82
6
1611787
.
G
A
56288.75
6
1611788
.
G
A
55530.16
6
1611789
.
C
CGGT
23283.91
6
1611792
.
C
CGGT
2970.90
6
1611794
.
G
GCGC,GCGA
3550.37
6
1611795
.
CGGCGGCGGCGGG
CGGTGGCGGCGGCGGG,C
1101.72
6
1611798
.
C
CGGT
1504.27
6
1611800
.
G
A
1216.29
6
1611801
.
C
CG
1383.40
6
1611804
.
C
G,CGGG,CGTA
10541.50
6
1611806
.
G
GC
1208.79
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
1611782
rs572346201
ACGGCGGCGG
ACGGCGGCGGCGG,ACGG,ACGGCGG,ACGGCGGCGGCGGCGGCGG,ACGGCGGCGGCGGCGG,A
4136505.35
6
1611783
rs557912856
C
T
90597.19
6
1611794
.
G
GCGC
910.38
6
1611800
.
G
A
65.60
6
1611804
.
C
G
144.02
6
1611806
.
G
GC
574.42
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
1611782
rs794726900
ACGG
ACGGCGG,A
.
6
1611782
rs755049427
ACGGCGG
ACGG,ACGGCGGCGG,ACGGCGGCGGCGG,ACGGCGGCGGCGGCGG,A
.
6
1611783
rs557912856
C
T
.
6
1611785
.
G
GC
.
6
1611786
.
C
CG
.
6
1611787
.
G
A
.
6
1611789
.
C
CG
.
6
1611795
.
C
CG
.
6
1611795
.
C
CC
.