| General information of RDP00323 | |
|---|---|
| Gene Symbol: | FOXF1 |
| RefSeq ID: | NM_001451 |
| Repeat coordinate: | chr16:86510604-86510628 (+) |
| Repeat size: | 8 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.782; 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 |
| Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 (3) | 601089 | 16q24.1 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Anorectal Malformations | NM_001451 | 0.30 | 1 | 0 | GENOMICS_ENGLAND |
| Mapping repeat track to ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
86510626
320787
CGGG
C
.
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
86510604
.
ACGG
A
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
86510604
rs574179816
ACGGCGGCGGCGG
ACGGCGGCGG,ACGGCGG,ACGGCGGCGGCGGCGG,ACGG,ACGGCGGCGGCGGCGGCGG,A
529395.36
16
86510606
rs777678865
G
T
454050.88
16
86510607
.
G
T
485513.27
16
86510608
.
C
CGGCGGA
22579.33
16
86510609
rs746952340
G
T
6692.11
16
86510612
.
G
T
3857.03
16
86510615
.
G
A
1249.81
16
86510617
.
C
T
1024.15
16
86510619
.
G
A
684.77
16
86510623
.
C
T
620.11
16
86510625
.
GC
G
435.05
16
86510626
rs757668134
CGGG
GGGG,C
17325.84
16
86510627
.
G
A,C
12584.19
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
86510604
rs574179816
ACGG
A,ACGGCGGCGG,ACGGCGG,ACGGCGGCGGCGG
40948.62
16
86510609
rs746952340
G
C
5518.92
16
86510614
.
C
CGGCGGCGGCGGCGGGGGA
1200.50
16
86510626
rs757668134
CGGG
C
16179
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
86510604
.
ACGG
A
.
16
86510604
rs751158767
ACGG
A
.
16
86510604
rs754634116
ACGGCGGCGG
A
.
16
86510604
rs749642623
ACGGCGGCGGCGGCGG
ACGGCGG,ACGGCGGCGGCGG,ACGGCGGCGGCGGCGGCGG,A
.
16
86510605
.
C
CG
.
16
86510606
rs777678865
G
A,T
.
16
86510607
.
G
GC
.
16
86510609
rs746952340
G
T
.
16
86510610
.
GCG
TCA
.
16
86510610
.
G
GC
.
16
86510613
.
G
GC
.
16
86510620
.
C
G
.
16
86510623
.
C
G
.
16
86510626
rs757668134
CGGG
C
.
16
86510628
rs770701846
G
A
.