FOXF1 (forkhead box F1) - Rat Genome Database

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Gene: FOXF1 (forkhead box F1) Homo sapiens
Analyze
Symbol: FOXF1
Name: forkhead box F1
RGD ID: 1348211
HGNC Page HGNC
Description: Exhibits DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in several processes, including animal organ development; blood vessel development; and midgut development. Predicted to localize to chromatin and nucleus. Implicated in persistent fetal circulation syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ACDMPV; FKHL5; forkhead box protein F1; Forkhead, drosophila, homolog-like 5; forkhead-related activator 1; forkhead-related protein FKHL5; forkhead-related transcription factor 1; FREAC-1; FREAC1; MGC105125
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1686,510,527 - 86,515,422 (+)EnsemblGRCh38hg38GRCh38
GRCh381686,510,527 - 86,515,422 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371686,544,133 - 86,549,028 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361685,101,634 - 85,105,571 (+)NCBINCBI36hg18NCBI36
Build 341685,101,658 - 85,105,548NCBI
Celera1670,844,972 - 70,848,909 (+)NCBI
Cytogenetic Map16q24.1NCBI
HuRef1672,283,842 - 72,287,779 (+)NCBIHuRef
CHM1_11687,955,849 - 87,959,786 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
animal organ morphogenesis  (IBA,ISO)
blood vessel development  (IMP)
cardiac left ventricle morphogenesis  (IMP)
cell-cell adhesion  (IEA,ISO)
cellular response to cytokine stimulus  (IEA,ISO)
cellular response to organic cyclic compound  (IEA,ISO)
detection of wounding  (IEA,ISO)
determination of left/right symmetry  (IEA,ISO)
digestive tract development  (IMP)
ductus arteriosus closure  (IMP)
embryonic digestive tract development  (ISO)
embryonic digestive tract morphogenesis  (IMP)
embryonic ectodermal digestive tract morphogenesis  (IMP)
embryonic foregut morphogenesis  (IEA,ISO)
endocardial cushion development  (IMP)
epithelial cell differentiation involved in mammary gland alveolus development  (IEA,ISO)
epithelial tube branching involved in lung morphogenesis  (IEA,ISO)
establishment of epithelial cell apical/basal polarity  (IEA,ISO)
extracellular matrix organization  (IEA,ISO)
heart development  (IMP)
in utero embryonic development  (IMP,ISO)
lateral mesodermal cell differentiation  (IEA,ISO)
lung alveolus development  (IEA,ISO)
lung development  (IMP,ISO)
lung lobe morphogenesis  (IEA,ISO)
lung morphogenesis  (ISO)
lung vasculature development  (IMP)
mesenchyme migration  (IEA,ISO)
mesoderm development  (ISO)
midgut development  (IMP)
morphogenesis of a branching structure  (IMP)
negative regulation of inflammatory response  (IEA,ISO)
negative regulation of mast cell degranulation  (IEA,ISO)
negative regulation of transcription by RNA polymerase II  (IEA,ISO)
pancreas development  (IMP)
positive regulation of cell migration  (IEA,ISO)
positive regulation of cell-substrate adhesion  (IEA,ISO)
positive regulation of mesenchymal cell proliferation  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IMP,ISO)
positive regulation of transcription, DNA-templated  (IDA)
regulation of transcription by RNA polymerase II  (IBA)
respiratory tube development  (IMP)
right lung morphogenesis  (IEA,ISO)
smooth muscle cell differentiation  (IEA,ISO)
smoothened signaling pathway  (IEA,ISO)
somitogenesis  (IEA,ISO)
trachea development  (IMP,ISO)
ureter development  (IMP)
vasculogenesis  (IEA,ISO)
venous blood vessel development  (IMP)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal lung lobation  (IAGP)
Abnormal vertebral morphology  (IAGP)
Absent gallbladder  (IAGP)
Aganglionic megacolon  (IAGP)
Alveolar capillary dysplasia  (IAGP)
Anal atresia  (IAGP)
Annular pancreas  (IAGP)
Aortic valve stenosis  (IAGP)
Arnold-Chiari malformation  (IAGP)
Asplenia  (IAGP)
Atrial septal defect  (IAGP)
Atrioventricular canal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bicuspid aortic valve  (IAGP)
Brachycephaly  (IAGP)
Butterfly vertebrae  (IAGP)
Cleft lip  (IAGP)
Cleft palate  (IAGP)
Congenital shortened small intestine  (IAGP)
Diastasis recti  (IAGP)
Dilatation of the bladder  (IAGP)
Duodenal atresia  (IAGP)
Duodenal stenosis  (IAGP)
Esophageal atresia  (IAGP)
Fetal megacystis  (IAGP)
Global developmental delay  (IAGP)
Hydronephrosis  (IAGP)
Hydroureter  (IAGP)
Hypoplastic left heart  (IAGP)
Interrupted aortic arch  (IAGP)
Intestinal malrotation  (IAGP)
Low-set ears  (IAGP)
Meckel diverticulum  (IAGP)
Micrognathia  (IAGP)
Misalignment of the pulmonary veins  (IAGP)
Neonatal death  (IAGP)
Neonatal respiratory distress  (IAGP)
Omphalocele  (IAGP)
Partial anomalous pulmonary venous return  (IAGP)
Patent ductus arteriosus  (IAGP)
Persistent fetal circulation  (IAGP)
Polyhydramnios  (IAGP)
Posterior rib fusion  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonary artery dilatation  (IAGP)
Pulmonary insufficiency  (IAGP)
Pulmonary lymphangiectasia  (IAGP)
Pulmonary valve atresia  (IAGP)
Respiratory distress  (IAGP)
Right-to-left shunt  (IAGP)
Single umbilical artery  (IAGP)
Syringomyelia  (IAGP)
Tetralogy of Fallot  (IAGP)
Tracheoesophageal fistula  (IAGP)
Urethral atresia  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Volvulus  (IAGP)
References

Additional References at PubMed
PMID:7957066   PMID:7959731   PMID:8626802   PMID:8825632   PMID:9722567   PMID:9769171   PMID:12477932   PMID:15489334   PMID:16344560   PMID:16448649   PMID:16772323   PMID:18564921  
PMID:19274049   PMID:19500772   PMID:19822228   PMID:19851296   PMID:20145151   PMID:20198315   PMID:20233876   PMID:20549505   PMID:21271214   PMID:21315191   PMID:21873635   PMID:21964066  
PMID:22961001   PMID:23034409   PMID:23103611   PMID:23322567   PMID:23407133   PMID:23504527   PMID:23505205   PMID:23563609   PMID:23864317   PMID:23943206   PMID:24121790   PMID:24186199  
PMID:24842713   PMID:25237908   PMID:25260753   PMID:25472632   PMID:25609649   PMID:26186194   PMID:26293303   PMID:26294094   PMID:26383589   PMID:26625197   PMID:26822871   PMID:26908052  
PMID:27071622   PMID:27109257   PMID:27145217   PMID:27165781   PMID:27855150   PMID:28043906   PMID:28131747   PMID:28218735   PMID:28256047   PMID:28398355   PMID:28404937   PMID:28514442  
PMID:29162563   PMID:29490077   PMID:29569581   PMID:29666340   PMID:29678578   PMID:30119690   PMID:30189360   PMID:30253191   PMID:30565344   PMID:31199666   PMID:31430452   PMID:31436901  
PMID:31498939   PMID:31686214   PMID:32319573   PMID:32370197   PMID:32987465   PMID:33008472  


Genomics

Comparative Map Data
FOXF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1686,510,527 - 86,515,422 (+)EnsemblGRCh38hg38GRCh38
GRCh381686,510,527 - 86,515,422 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371686,544,133 - 86,549,028 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361685,101,634 - 85,105,571 (+)NCBINCBI36hg18NCBI36
Build 341685,101,658 - 85,105,548NCBI
Celera1670,844,972 - 70,848,909 (+)NCBI
Cytogenetic Map16q24.1NCBI
HuRef1672,283,842 - 72,287,779 (+)NCBIHuRef
CHM1_11687,955,849 - 87,959,786 (+)NCBICHM1_1
Foxf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398121,811,125 - 121,814,893 (+)NCBIGRCm39mm39
GRCm39 Ensembl8121,811,125 - 121,814,883 (+)Ensembl
GRCm388121,084,386 - 121,088,154 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8121,084,386 - 121,088,144 (+)EnsemblGRCm38mm10GRCm38
MGSCv378123,608,374 - 123,610,779 (+)NCBIGRCm37mm9NCBIm37
MGSCv368123,970,451 - 123,972,856 (+)NCBImm8
Celera8125,302,426 - 125,304,831 (+)NCBICelera
Cytogenetic Map8E1NCBI
cM Map870.31NCBI
Foxf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21949,153,729 - 49,157,741 (+)NCBI
Rnor_6.0 Ensembl1953,012,332 - 53,016,086 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01953,012,306 - 53,016,100 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01963,756,636 - 63,760,430 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1948,400,056 - 48,404,066 (+)NCBICelera
Cytogenetic Map19q12NCBI
Foxf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555411,317,114 - 1,346,590 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555411,341,715 - 1,345,397 (+)NCBIChiLan1.0ChiLan1.0
FOXF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11686,515,150 - 86,519,949 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1686,516,119 - 86,519,949 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01667,183,416 - 67,188,211 (+)NCBIMhudiblu_PPA_v0panPan3
FOXF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1566,343,776 - 66,347,785 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl566,345,150 - 66,347,935 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha566,355,810 - 66,359,808 (-)NCBI
ROS_Cfam_1.0566,565,325 - 66,569,328 (-)NCBI
UMICH_Zoey_3.1566,588,163 - 66,592,141 (-)NCBI
UNSW_CanFamBas_1.0566,423,363 - 66,427,352 (-)NCBI
UU_Cfam_GSD_1.0566,836,698 - 66,840,702 (-)NCBI
Foxf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244082614 - 1,756 (-)NCBI
SpeTri2.0NW_0049438834 - 1,756 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FOXF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl62,592,993 - 2,597,659 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.162,579,348 - 2,598,122 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.262,799,092 - 2,801,627 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FOXF1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1571,898,473 - 71,902,624 (+)NCBI
ChlSab1.1 Ensembl571,898,786 - 71,903,661 (+)Ensembl
Foxf1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247462,599,211 - 2,603,031 (+)NCBI

Position Markers
STS-U13219  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371686,546,680 - 86,546,890UniSTSGRCh37
Build 361685,104,181 - 85,104,391RGDNCBI36
Celera1670,847,519 - 70,847,729RGD
Cytogenetic Map16q24UniSTS
HuRef1672,286,389 - 72,286,599UniSTS
GeneMap99-GB4 RH Map16480.18UniSTS
RH70564  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371686,546,825 - 86,546,951UniSTSGRCh37
Build 361685,104,326 - 85,104,452RGDNCBI36
Celera1670,847,664 - 70,847,790RGD
Cytogenetic Map16q24UniSTS
HuRef1672,286,534 - 72,286,660UniSTS
GeneMap99-GB4 RH Map16481.75UniSTS
NCBI RH Map16666.5UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:602
Count of miRNA genes:447
Interacting mature miRNAs:485
Transcripts:ENST00000262426
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2217 10 382 14 188 16 23 901 76 62 469 1001 87 2 2
Low 132 1563 978 577 323 412 2654 187 3420 301 876 457 171 1 1104 1571 1 2
Below cutoff 25 1204 349 23 681 24 1570 1069 214 37 60 51 2 13 1209

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000262426   ⟹   ENSP00000262426
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1686,510,527 - 86,515,422 (+)Ensembl
RefSeq Acc Id: NM_001451   ⟹   NP_001442
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381686,510,527 - 86,515,422 (+)NCBI
GRCh371686,544,133 - 86,548,070 (+)ENTREZGENE
Build 361685,101,634 - 85,105,571 (+)NCBI Archive
HuRef1672,283,842 - 72,287,779 (+)ENTREZGENE
CHM1_11687,955,849 - 87,959,786 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001442   ⟸   NM_001451
- UniProtKB: Q12946 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000262426   ⟸   ENST00000262426

Promoters
RGD ID:6793137
Promoter ID:HG_KWN:24416
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000269103
Position:
Human AssemblyChrPosition (strand)Source
Build 361685,100,461 - 85,100,961 (+)MPROMDB
RGD ID:7233063
Promoter ID:EPDNEW_H22277
Type:initiation region
Name:FOXF1_1
Description:forkhead box F1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381686,510,527 - 86,510,587EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
FOXF1, 1-BP DUP, 775T duplication Persistent fetal circulation syndrome [RCV000008985] Chr16:16q24 pathogenic
FOXF1, 2-BP DEL, 956TT deletion Persistent fetal circulation syndrome [RCV000008986] Chr16:16q24 pathogenic
NM_001451.3(FOXF1):c.225C>A (p.Tyr75Ter) single nucleotide variant Persistent fetal circulation syndrome [RCV000008983] Chr16:86510794 [GRCh38]
Chr16:86544400 [GRCh37]
Chr16:16q24.1
pathogenic
NM_001451.3(FOXF1):c.1138T>C (p.Ter380Arg) single nucleotide variant Persistent fetal circulation syndrome [RCV000008984] Chr16:86513083 [GRCh38]
Chr16:86546689 [GRCh37]
Chr16:16q24.1
pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 copy number gain See cases [RCV000050840] Chr16:78816291..90081985 [GRCh38]
Chr16:78850188..90148393 [GRCh37]
Chr16:77407689..88675894 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1 copy number loss See cases [RCV000051122] Chr16:83878992..87223838 [GRCh38]
Chr16:83912597..87257444 [GRCh37]
Chr16:82470098..85814945 [NCBI36]
Chr16:16q23.3-24.2
pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3
pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3 copy number gain See cases [RCV000052423] Chr16:76873569..90081985 [GRCh38]
Chr16:76907466..90148393 [GRCh37]
Chr16:75464967..88675894 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3 copy number gain See cases [RCV000052424] Chr16:82173150..90081985 [GRCh38]
Chr16:82206755..90148393 [GRCh37]
Chr16:80764256..88675894 [NCBI36]
Chr16:16q23.3-24.3
pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:84707538-90081985)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|See cases [RCV000052425] Chr16:84707538..90081985 [GRCh38]
Chr16:84741144..90148393 [GRCh37]
Chr16:83298645..88675894 [NCBI36]
Chr16:16q24.1-24.3
pathogenic
GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1 copy number loss See cases [RCV000053359] Chr16:78704275..87819342 [GRCh38]
Chr16:78738172..87852948 [GRCh37]
Chr16:77295673..86410449 [NCBI36]
Chr16:16q23.1-24.2
pathogenic
NM_001451.3(FOXF1):c.416G>A (p.Arg139Gln) single nucleotide variant Pyloric stenosis, infantile hypertrophic, 5 [RCV000119307] Chr16:86510985 [GRCh38]
Chr16:86544591 [GRCh37]
Chr16:16q24.1
likely pathogenic
GRCh37/hg19 16q24.1-24.2(chr16:84872102-87678641) copy number loss Persistent fetal circulation syndrome [RCV001004081] Chr16:84872102..87678641 [GRCh37]
Chr16:16q24.1-24.2
pathogenic
NM_001451.3(FOXF1):c.658G>T (p.Gly220Cys) single nucleotide variant VATER association [RCV000201858] Chr16:86511227 [GRCh38]
Chr16:86544833 [GRCh37]
Chr16:16q24.1
likely pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3 copy number gain See cases [RCV000135659] Chr16:83988570..90081985 [GRCh38]
Chr16:84022175..90148393 [GRCh37]
Chr16:82579676..88675894 [NCBI36]
Chr16:16q23.3-24.3
likely pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3 copy number gain See cases [RCV000136898] Chr16:80946659..90081985 [GRCh38]
Chr16:80980556..90148393 [GRCh37]
Chr16:79538057..88675894 [NCBI36]
Chr16:16q23.2-24.3
pathogenic|likely pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 copy number gain See cases [RCV000137495] Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3
pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3 copy number gain See cases [RCV000137980] Chr16:83478453..89932910 [GRCh38]
Chr16:83512058..89999318 [GRCh37]
Chr16:82069559..88526819 [NCBI36]
Chr16:16q23.3-24.3
likely pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 copy number gain See cases [RCV000139302] Chr16:75377981..90081992 [GRCh38]
Chr16:75411879..90148400 [GRCh37]
Chr16:73969380..88675901 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3 copy number gain See cases [RCV000139658] Chr16:85552976..90096995 [GRCh38]
Chr16:85586582..90163403 [GRCh37]
Chr16:84144083..88690904 [NCBI36]
Chr16:16q24.1-24.3
pathogenic
GRCh38/hg38 16q24.1(chr16:86271377-86672163)x3 copy number gain See cases [RCV000141386] Chr16:86271377..86672163 [GRCh38]
Chr16:86304983..86705769 [GRCh37]
Chr16:84862484..85263270 [NCBI36]
Chr16:16q24.1
uncertain significance
GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 copy number gain See cases [RCV000141128] Chr16:80717291..90096662 [GRCh38]
Chr16:80751188..90163070 [GRCh37]
Chr16:79308689..88690571 [NCBI36]
Chr16:16q23.2-24.3
pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 copy number gain See cases [RCV000141700] Chr16:76336203..90088654 [GRCh38]
Chr16:76370100..90155062 [GRCh37]
Chr16:74927601..88682563 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3 copy number gain See cases [RCV000142698] Chr16:80067315..90057871 [GRCh38]
Chr16:80101212..90124279 [GRCh37]
Chr16:78658713..88651780 [NCBI36]
Chr16:16q23.2-24.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3
pathogenic
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 copy number gain See cases [RCV000240108] Chr16:74872514..90274440 [GRCh37]
Chr16:16q23.1-24.3
pathogenic
t(5;16)(p15.31;q23.1) translocation not provided [RCV000203391] Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3
likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3
uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207182] Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3
uncertain significance
NM_001451.2(FOXF1):c.(?_15)_(*58_?)del deletion Idiopathic and/or familial pulmonary arterial hypertension [RCV000216016] Chr16:86510584..86513143 [GRCh38]
Chr16:86544190..86546749 [GRCh37]
Chr16:16q24.1
pathogenic
NM_001451.3(FOXF1):c.873C>T (p.Ser291=) single nucleotide variant Persistent fetal circulation syndrome [RCV000319164]|not provided [RCV000957458]|not specified [RCV000216387] Chr16:86511442 [GRCh38]
Chr16:86545048 [GRCh37]
Chr16:16q24.1
benign
Single allele complex Ductal breast carcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3
uncertain significance
NM_001451.3(FOXF1):c.*372G>A single nucleotide variant Persistent fetal circulation syndrome [RCV000300625] Chr16:86513457 [GRCh38]
Chr16:86547063 [GRCh37]
Chr16:16q24.1
benign
NM_001451.3(FOXF1):c.*56C>T single nucleotide variant Persistent fetal circulation syndrome [RCV000285666] Chr16:86513141 [GRCh38]
Chr16:86546747 [GRCh37]
Chr16:16q24.1
likely benign
NM_001451.3(FOXF1):c.*467_*468insA insertion Persistent fetal circulation syndrome [RCV000304108] Chr16:86513552..86513553 [GRCh38]
Chr16:86547158..86547159 [GRCh37]
Chr16:16q24.1
likely benign
NM_001451.3(FOXF1):c.*632G>A single nucleotide variant Persistent fetal circulation syndrome [RCV000269696] Chr16:86513717 [GRCh38]
Chr16:86547323 [GRCh37]
Chr16:16q24.1
likely benign
NM_001451.3(FOXF1):c.*1176del deletion Persistent fetal circulation syndrome [RCV000271929] Chr16:86514250 [GRCh38]
Chr16:86547856 [GRCh37]
Chr16:16q24.1
conflicting interpretations of pathogenicity
NM_001451.3(FOXF1):c.645C>T (p.His215=) single nucleotide variant Persistent fetal circulation syndrome [RCV000273481]|not provided [RCV000888843] Chr16:86511214 [GRCh38]
Chr16:86544820 [GRCh37]
Chr16:16q24.1
benign
NM_001451.3(FOXF1):c.*98A>G single nucleotide variant Persistent fetal circulation syndrome [RCV000291452] Chr16:86513183 [GRCh38]
Chr16:86546789 [GRCh37]
Chr16:16q24.1
likely benign
NM_001451.3(FOXF1):c.*471_*472dup duplication Persistent fetal circulation syndrome [RCV000260533] Chr16:86513547..86513548 [GRCh38]
Chr16:86547153..86547154 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_001451.3(FOXF1):c.980-10C>T single nucleotide variant Persistent fetal circulation syndrome [RCV000260869] Chr16:86512915 [GRCh38]
Chr16:86546521 [GRCh37]
Chr16:16q24.1
likely benign
NM_001451.3(FOXF1):c.*909G>A single nucleotide variant Persistent fetal circulation syndrome [RCV000298608] Chr16:86513994 [GRCh38]
Chr16:86547600 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_001451.3(FOXF1):c.*571C>T single nucleotide variant Persistent fetal circulation syndrome [RCV000263949] Chr16:86513656 [GRCh38]
Chr16:86547262 [GRCh37]
Chr16:16q24.1
likely benign
NM_001451.3(FOXF1):c.*805C>T single nucleotide variant Persistent fetal circulation syndrome [RCV000281398] Chr16:86513890 [GRCh38]
Chr16:86547496 [GRCh37]
Chr16:16q24.1
benign
NM_001451.3(FOXF1):c.*1182T>G single nucleotide variant Persistent fetal circulation syndrome [RCV000270109] Chr16:86514267 [GRCh38]
Chr16:86547873 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_001451.3(FOXF1):c.*1095C>A single nucleotide variant Persistent fetal circulation syndrome [RCV000341941] Chr16:86514180 [GRCh38]
Chr16:86547786 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_001451.3(FOXF1):c.*591G>T single nucleotide variant Persistent fetal circulation syndrome [RCV000321520] Chr16:86513676 [GRCh38]
Chr16:86547282 [GRCh37]
Chr16:16q24.1
likely benign
NM_001451.3(FOXF1):c.*57G>A single nucleotide variant Persistent fetal circulation syndrome [RCV000321928] Chr16:86513142 [GRCh38]
Chr16:86546748 [GRCh37]
Chr16:16q24.1
likely benign
NM_001451.3(FOXF1):c.476A>G (p.Asn159Ser) single nucleotide variant not provided [RCV000892939] Chr16:86511045 [GRCh38]
Chr16:86544651 [GRCh37]
Chr16:16q24.1
benign|likely benign
NM_001451.3(FOXF1):c.*196T>C single nucleotide variant Persistent fetal circulation syndrome [RCV000393991] Chr16:86513281 [GRCh38]
Chr16:86546887 [GRCh37]
Chr16:16q24.1
benign
NM_001451.3(FOXF1):c.*1298dup duplication Persistent fetal circulation syndrome [RCV000273400] Chr16:86514376..86514377 [GRCh38]
Chr16:86547982..86547983 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_001451.3(FOXF1):c.*646G>T single nucleotide variant Persistent fetal circulation syndrome [RCV000327117] Chr16:86513731 [GRCh38]
Chr16:86547337 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_001451.3(FOXF1):c.*724C>T single nucleotide variant Persistent fetal circulation syndrome [RCV000349375] Chr16:86513809 [GRCh38]
Chr16:86547415 [GRCh37]
Chr16:16q24.1
likely benign
NM_001451.3(FOXF1):c.*309_*310insT insertion Persistent fetal circulation syndrome [RCV000352368] Chr16:86513394..86513395 [GRCh38]
Chr16:86547000..86547001 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_001451.3(FOXF1):c.*472dup duplication Persistent fetal circulation syndrome [RCV000353142] Chr16:86513547..86513548 [GRCh38]
Chr16:86547153..86547154 [GRCh37]
Chr16:16q24.1
benign
NM_001451.3(FOXF1):c.*1212G>A single nucleotide variant Persistent fetal circulation syndrome [RCV000332079] Chr16:86514297 [GRCh38]
Chr16:86547903 [GRCh37]
Chr16:16q24.1
likely benign
NM_001451.3(FOXF1):c.908G>A (p.Ser303Asn) single nucleotide variant Persistent fetal circulation syndrome [RCV001255167]|not provided [RCV000965334] Chr16:86511477 [GRCh38]
Chr16:86545083 [GRCh37]
Chr16:16q24.1
benign|likely benign
NM_001451.3(FOXF1):c.*16C>T single nucleotide variant Persistent fetal circulation syndrome [RCV000380089] Chr16:86513101 [GRCh38]
Chr16:86546707 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_001451.3(FOXF1):c.*1095C>T single nucleotide variant Persistent fetal circulation syndrome [RCV000404743] Chr16:86514180 [GRCh38]
Chr16:86547786 [GRCh37]
Chr16:16q24.1
likely benign
NM_001451.3(FOXF1):c.*370G>A single nucleotide variant Persistent fetal circulation syndrome [RCV000405197] Chr16:86513455 [GRCh38]
Chr16:86547061 [GRCh37]
Chr16:16q24.1
likely benign
NM_001451.3(FOXF1):c.85G>T (p.Ala29Ser) single nucleotide variant Persistent fetal circulation syndrome [RCV000405746] Chr16:86510654 [GRCh38]
Chr16:86544260 [GRCh37]
Chr16:16q24.1
likely benign
NM_001451.3(FOXF1):c.*310C>T single nucleotide variant Persistent fetal circulation syndrome [RCV000312856] Chr16:86513395 [GRCh38]
Chr16:86547001 [GRCh37]
Chr16:16q24.1
benign
NM_001451.3(FOXF1):c.-4C>T single nucleotide variant Persistent fetal circulation syndrome [RCV000406074] Chr16:86510566 [GRCh38]
Chr16:86544172 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_001451.3(FOXF1):c.204C>G (p.Arg68=) single nucleotide variant not provided [RCV000891033] Chr16:86510773 [GRCh38]
Chr16:86544379 [GRCh37]
Chr16:16q24.1
benign
NM_001451.3(FOXF1):c.*631C>T single nucleotide variant Persistent fetal circulation syndrome [RCV000383075] Chr16:86513716 [GRCh38]
Chr16:86547322 [GRCh37]
Chr16:16q24.1
likely benign
NM_001451.3(FOXF1):c.*873G>A single nucleotide variant Persistent fetal circulation syndrome [RCV000407415] Chr16:86513958 [GRCh38]
Chr16:86547564 [GRCh37]
Chr16:16q24.1
likely benign
NM_001451.3(FOXF1):c.*1147T>C single nucleotide variant Persistent fetal circulation syndrome [RCV000359408] Chr16:86514232 [GRCh38]
Chr16:86547838 [GRCh37]
Chr16:16q24.1
likely benign
NM_001451.3(FOXF1):c.*855C>T single nucleotide variant Persistent fetal circulation syndrome [RCV000338840] Chr16:86513940 [GRCh38]
Chr16:86547546 [GRCh37]
Chr16:16q24.1
benign
NM_001451.3(FOXF1):c.*493G>A single nucleotide variant Persistent fetal circulation syndrome [RCV000361046] Chr16:86513578 [GRCh38]
Chr16:86547184 [GRCh37]
Chr16:16q24.1
likely benign
NM_001451.3(FOXF1):c.*754T>C single nucleotide variant Persistent fetal circulation syndrome [RCV000387533] Chr16:86513839 [GRCh38]
Chr16:86547445 [GRCh37]
Chr16:16q24.1
likely benign
NM_001451.3(FOXF1):c.*664A>G single nucleotide variant Persistent fetal circulation syndrome [RCV000388729] Chr16:86513749 [GRCh38]
Chr16:86547355 [GRCh37]
Chr16:16q24.1
benign
NM_001451.3(FOXF1):c.*1216T>G single nucleotide variant Persistent fetal circulation syndrome [RCV000389002] Chr16:86514301 [GRCh38]
Chr16:86547907 [GRCh37]
Chr16:16q24.1
likely benign
NM_001451.3(FOXF1):c.*310_*311insT insertion Persistent fetal circulation syndrome [RCV000390590] Chr16:86513395..86513396 [GRCh38]
Chr16:86547001..86547002 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_001451.3(FOXF1):c.60_62del (p.Gly23del) deletion Persistent fetal circulation syndrome [RCV000362300] Chr16:86510627..86510629 [GRCh38]
Chr16:86544233..86544235 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_001451.3(FOXF1):c.1081G>A (p.Gly361Arg) single nucleotide variant Persistent fetal circulation syndrome [RCV000316118] Chr16:86513026 [GRCh38]
Chr16:86546632 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_001451.3(FOXF1):c.*123dup duplication Persistent fetal circulation syndrome [RCV000346547] Chr16:86513204..86513205 [GRCh38]
Chr16:86546810..86546811 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_001451.3(FOXF1):c.*345del deletion Persistent fetal circulation syndrome [RCV000349035] Chr16:86513425 [GRCh38]
Chr16:86547031 [GRCh37]
Chr16:16q24.1
benign
NM_001451.3(FOXF1):c.*682G>A single nucleotide variant Persistent fetal circulation syndrome [RCV000296572] Chr16:86513767 [GRCh38]
Chr16:86547373 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_001451.3(FOXF1):c.36_38CGG[9] (p.Gly23dup) microsatellite Persistent fetal circulation syndrome [RCV000307641] Chr16:86510604..86510605 [GRCh38]
Chr16:86544210..86544211 [GRCh37]
Chr16:16q24.1
likely benign
NM_001451.3(FOXF1):c.*260T>C single nucleotide variant Persistent fetal circulation syndrome [RCV000288126] Chr16:86513345 [GRCh38]
Chr16:86546951 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_001451.3(FOXF1):c.*1175_*1176del deletion Persistent fetal circulation syndrome [RCV000310628] Chr16:86514250..86514251 [GRCh38]
Chr16:86547856..86547857 [GRCh37]
Chr16:16q24.1
benign
NM_001451.3(FOXF1):c.*71C>A single nucleotide variant Persistent fetal circulation syndrome [RCV000376528] Chr16:86513156 [GRCh38]
Chr16:86546762 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_001451.3(FOXF1):c.*1137A>G single nucleotide variant Persistent fetal circulation syndrome [RCV000302286] Chr16:86514222 [GRCh38]
Chr16:86547828 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_001451.3(FOXF1):c.280A>T (p.Asn94Tyr) single nucleotide variant Persistent fetal circulation syndrome [RCV001198324]|Urethral atresia [RCV000415110] Chr16:86510849 [GRCh38]
Chr16:86544455 [GRCh37]
Chr16:16q24.1
likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_001451.3(FOXF1):c.939del (p.Leu314fs) deletion not provided [RCV000480049] Chr16:86511508 [GRCh38]
Chr16:86545114 [GRCh37]
Chr16:16q24.1
likely pathogenic
GRCh37/hg19 16q24.1-24.2(chr16:85491404-87883528)x1 copy number loss See cases [RCV000510624] Chr16:85491404..87883528 [GRCh37]
Chr16:16q24.1-24.2
pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4 copy number gain See cases [RCV000511606] Chr16:84937273..89836905 [GRCh37]
Chr16:16q24.1-24.3
likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss PARP Inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss PARP Inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3
pathogenic
GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3 copy number gain See cases [RCV000512440] Chr16:85838574..90155062 [GRCh37]
Chr16:16q24.1-24.3
pathogenic
GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3 copy number gain See cases [RCV000512468] Chr16:83001540..90155062 [GRCh37]
Chr16:16q23.3-24.3
likely pathogenic
NM_001451.3(FOXF1):c.1140A>C (p.Ter380Cys) single nucleotide variant Persistent fetal circulation syndrome [RCV000678975] Chr16:86513085 [GRCh38]
Chr16:86546691 [GRCh37]
Chr16:16q24.1
likely pathogenic
GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3 copy number gain not provided [RCV000683845] Chr16:79400436..90155062 [GRCh37]
Chr16:16q23.2-24.3
pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 copy number gain not provided [RCV000683831] Chr16:72515938..90155062 [GRCh37]
Chr16:16q22.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q24.1(chr16:86524157-86546887)x1 copy number loss not provided [RCV000739280] Chr16:86524157..86546887 [GRCh37]
Chr16:16q24.1
benign
GRCh37/hg19 16q24.1(chr16:86542241-86546598)x1 copy number loss not provided [RCV000739281] Chr16:86542241..86546598 [GRCh37]
Chr16:16q24.1
benign
GRCh37/hg19 16q24.1(chr16:86542845-86546227)x1 copy number loss not provided [RCV000739282] Chr16:86542845..86546227 [GRCh37]
Chr16:16q24.1
benign
NM_001451.3(FOXF1):c.1031_1032del (p.Phe344fs) deletion Persistent fetal circulation syndrome [RCV000984332] Chr16:86512975..86512976 [GRCh38]
Chr16:86546581..86546582 [GRCh37]
Chr16:16q24.1
pathogenic
NM_001451.3(FOXF1):c.89C>A (p.Ser30Ter) single nucleotide variant Persistent fetal circulation syndrome [RCV000984334] Chr16:86510658 [GRCh38]
Chr16:86544264 [GRCh37]
Chr16:16q24.1
pathogenic
NM_001451.3(FOXF1):c.348C>T (p.Pro116=) single nucleotide variant not provided [RCV000927907] Chr16:86510917 [GRCh38]
Chr16:86544523 [GRCh37]
Chr16:16q24.1
likely benign
GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381) copy number gain not provided [RCV000767619] Chr16:82761333..90055381 [GRCh37]
Chr16:16q23.3-24.3
pathogenic
NM_001451.3(FOXF1):c.872_879del (p.Leu290_Ser291insTer) deletion Persistent fetal circulation syndrome [RCV000984335] Chr16:86511434..86511441 [GRCh38]
Chr16:86545040..86545047 [GRCh37]
Chr16:16q24.1
pathogenic
NM_001451.3(FOXF1):c.899_903dup (p.Gly302fs) duplication Persistent fetal circulation syndrome [RCV000984336] Chr16:86511465..86511466 [GRCh38]
Chr16:86545071..86545072 [GRCh37]
Chr16:16q24.1
pathogenic
NM_001451.3(FOXF1):c.191C>A (p.Ser64Ter) single nucleotide variant Persistent fetal circulation syndrome [RCV000984337] Chr16:86510760 [GRCh38]
Chr16:86544366 [GRCh37]
Chr16:16q24.1
pathogenic
NM_001451.3(FOXF1):c.1139G>C (p.Ter380Ser) single nucleotide variant Persistent fetal circulation syndrome [RCV000984338] Chr16:86513084 [GRCh38]
Chr16:86546690 [GRCh37]
Chr16:16q24.1
pathogenic
NM_001451.3(FOXF1):c.221T>A (p.Ile74Asn) single nucleotide variant Persistent fetal circulation syndrome [RCV000984339] Chr16:86510790 [GRCh38]
Chr16:86544396 [GRCh37]
Chr16:16q24.1
pathogenic
NM_001451.3(FOXF1):c.539C>A (p.Ser180Ter) single nucleotide variant Persistent fetal circulation syndrome [RCV000984340] Chr16:86511108 [GRCh38]
Chr16:86544714 [GRCh37]
Chr16:16q24.1
pathogenic
NM_001451.3(FOXF1):c.294C>A (p.His98Gln) single nucleotide variant Persistent fetal circulation syndrome [RCV000984341] Chr16:86510863 [GRCh38]
Chr16:86544469 [GRCh37]
Chr16:16q24.1
pathogenic
NM_001451.3(FOXF1):c.862C>T (p.Gln288Ter) single nucleotide variant Persistent fetal circulation syndrome [RCV000984342] Chr16:86511431 [GRCh38]
Chr16:86545037 [GRCh37]
Chr16:16q24.1
pathogenic
NM_001451.3(FOXF1):c.316T>C (p.Phe106Leu) single nucleotide variant Persistent fetal circulation syndrome [RCV000984343] Chr16:86510885 [GRCh38]
Chr16:86544491 [GRCh37]
Chr16:16q24.1
pathogenic
NM_001451.3(FOXF1):c.849_850del (p.Ile285fs) deletion Persistent fetal circulation syndrome [RCV000984344] Chr16:86511418..86511419 [GRCh38]
Chr16:86545024..86545025 [GRCh37]
Chr16:16q24.1
pathogenic
NM_001451.3(FOXF1):c.145C>G (p.Pro49Ala) single nucleotide variant Persistent fetal circulation syndrome [RCV000984345] Chr16:86510714 [GRCh38]
Chr16:86544320 [GRCh37]
Chr16:16q24.1
pathogenic
NM_001451.3(FOXF1):c.1047C>T (p.Asn349=) single nucleotide variant not provided [RCV000957473]|not specified [RCV000825069] Chr16:86512992 [GRCh38]
Chr16:86546598 [GRCh37]
Chr16:16q24.1
benign
NM_001451.3(FOXF1):c.636G>C (p.Ser212=) single nucleotide variant Persistent fetal circulation syndrome [RCV000850162] Chr16:86511205 [GRCh38]
Chr16:86544811 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_001451.3(FOXF1):c.1083G>A (p.Gly361=) single nucleotide variant Persistent fetal circulation syndrome [RCV000850182]|not provided [RCV000966402] Chr16:86513028 [GRCh38]
Chr16:86546634 [GRCh37]
Chr16:16q24.1
benign
NM_001451.3(FOXF1):c.413G>C (p.Arg138Pro) single nucleotide variant Persistent fetal circulation syndrome [RCV001007918] Chr16:86510982 [GRCh38]
Chr16:86544588 [GRCh37]
Chr16:16q24.1
likely pathogenic
NM_001451.3(FOXF1):c.950del (p.Asn317fs) deletion Persistent fetal circulation syndrome [RCV001199826] Chr16:86511518 [GRCh38]
Chr16:86545124 [GRCh37]
Chr16:16q24.1
likely pathogenic
NM_001451.3(FOXF1):c.359A>G (p.His120Arg) single nucleotide variant not provided [RCV000996354] Chr16:86510928 [GRCh38]
Chr16:86544534 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_001451.3(FOXF1):c.166C>G (p.Leu56Val) single nucleotide variant Persistent fetal circulation syndrome [RCV001199825] Chr16:86510735 [GRCh38]
Chr16:86544341 [GRCh37]
Chr16:16q24.1
likely pathogenic
NM_001451.3(FOXF1):c.683_690GCGGCGGC[1] (p.Ala231fs) microsatellite Persistent fetal circulation syndrome [RCV000853342]|not provided [RCV001269782] Chr16:86511252..86511259 [GRCh38]
Chr16:86544858..86544865 [GRCh37]
Chr16:16q24.1
pathogenic
NM_001451.3(FOXF1):c.145C>T (p.Pro49Ser) single nucleotide variant Persistent fetal circulation syndrome [RCV000984333] Chr16:86510714 [GRCh38]
Chr16:86544320 [GRCh37]
Chr16:16q24.1
pathogenic
NM_001451.3(FOXF1):c.969C>A (p.Ala323=) single nucleotide variant Persistent fetal circulation syndrome [RCV001290371]|not provided [RCV000910406] Chr16:86511538 [GRCh38]
Chr16:86545144 [GRCh37]
Chr16:16q24.1
likely benign
NM_001451.3(FOXF1):c.90G>C (p.Ser30=) single nucleotide variant not provided [RCV000935891] Chr16:86510659 [GRCh38]
Chr16:86544265 [GRCh37]
Chr16:16q24.1
likely benign
NM_001451.3(FOXF1):c.751A>G (p.Thr251Ala) single nucleotide variant not provided [RCV000911510] Chr16:86511320 [GRCh38]
Chr16:86544926 [GRCh37]
Chr16:16q24.1
benign
NM_001451.3(FOXF1):c.1057_1078dup (p.Gly360fs) duplication Persistent fetal circulation syndrome [RCV001172234] Chr16:86512999..86513000 [GRCh38]
Chr16:86546605..86546606 [GRCh37]
Chr16:16q24.1
pathogenic
NM_001451.3(FOXF1):c.253T>C (p.Phe85Leu) single nucleotide variant Persistent fetal circulation syndrome [RCV001172235] Chr16:86510822 [GRCh38]
Chr16:86544428 [GRCh37]
Chr16:16q24.1
pathogenic
NM_001451.3(FOXF1):c.57_60del (p.Gly20fs) deletion Persistent fetal circulation syndrome [RCV001250411] Chr16:86510624..86510627 [GRCh38]
Chr16:86544230..86544233 [GRCh37]
Chr16:16q24.1
pathogenic
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3
not provided
NC_000016.9:g.86243180_87703229del deletion Persistent fetal circulation syndrome [RCV001199829]   pathogenic
NM_001451.3(FOXF1):c.780_781delinsTC (p.Ala261Pro) indel Persistent fetal circulation syndrome [RCV001254638] Chr16:86511349..86511350 [GRCh38]
Chr16:86544955..86544956 [GRCh37]
Chr16:16q24.1
likely benign
NM_001451.3(FOXF1):c.579C>A (p.Gly193=) single nucleotide variant Persistent fetal circulation syndrome [RCV001254639] Chr16:86511148 [GRCh38]
Chr16:86544754 [GRCh37]
Chr16:16q24.1
likely benign
NM_001451.3(FOXF1):c.965del (p.Pro322fs) deletion Persistent fetal circulation syndrome [RCV001251454] Chr16:86511531 [GRCh38]
Chr16:86545137 [GRCh37]
Chr16:16q24.1
pathogenic
NM_001451.3(FOXF1):c.266A>G (p.Tyr89Cys) single nucleotide variant Persistent fetal circulation syndrome [RCV001251453] Chr16:86510835 [GRCh38]
Chr16:86544441 [GRCh37]
Chr16:16q24.1
likely pathogenic
NM_001451.3(FOXF1):c.286G>T (p.Val96Leu) single nucleotide variant Persistent fetal circulation syndrome [RCV001251452] Chr16:86510855 [GRCh38]
Chr16:86544461 [GRCh37]
Chr16:16q24.1
likely pathogenic
GRCh37/hg19 16q24.1(chr16:86287540-86718579)x3 copy number gain not provided [RCV001258658] Chr16:86287540..86718579 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_001451.3(FOXF1):c.927G>T (p.Leu309=) single nucleotide variant Persistent fetal circulation syndrome [RCV001255166] Chr16:86511496 [GRCh38]
Chr16:86545102 [GRCh37]
Chr16:16q24.1
likely benign
NM_001451.3(FOXF1):c.238_239del (p.Ser80fs) microsatellite Persistent fetal circulation syndrome [RCV001291933] Chr16:86510805..86510806 [GRCh38]
Chr16:86544411..86544412 [GRCh37]
Chr16:16q24.1
pathogenic
NM_001451.3(FOXF1):c.668C>A (p.Ser223Ter) single nucleotide variant Persistent fetal circulation syndrome [RCV001331935] Chr16:86511237 [GRCh38]
Chr16:86544843 [GRCh37]
Chr16:16q24.1
pathogenic
NM_001451.3(FOXF1):c.-2C>T single nucleotide variant Persistent fetal circulation syndrome [RCV001336374] Chr16:86510568 [GRCh38]
Chr16:86544174 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_001451.3(FOXF1):c.322A>G (p.Lys108Glu) single nucleotide variant not provided [RCV001269953] Chr16:86510891 [GRCh38]
Chr16:86544497 [GRCh37]
Chr16:16q24.1
likely pathogenic
NM_001451.3(FOXF1):c.75del (p.Met26fs) deletion not provided [RCV001269986] Chr16:86510643 [GRCh38]
Chr16:86544249 [GRCh37]
Chr16:16q24.1
pathogenic
NM_001451.3(FOXF1):c.302C>T (p.Ser101Leu) single nucleotide variant Persistent fetal circulation syndrome [RCV001291932] Chr16:86510871 [GRCh38]
Chr16:86544477 [GRCh37]
Chr16:16q24.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3809 AgrOrtholog
COSMIC FOXF1 COSMIC
Ensembl Genes ENSG00000103241 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000262426 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000262426 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000103241 GTEx
HGNC ID HGNC:3809 ENTREZGENE
Human Proteome Map FOXF1 Human Proteome Map
InterPro Fork_head_dom UniProtKB/Swiss-Prot
  TF_fork_head_CS_1 UniProtKB/Swiss-Prot
  TF_fork_head_CS_2 UniProtKB/Swiss-Prot
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot
  WH_DNA-bd_sf UniProtKB/Swiss-Prot
KEGG Report hsa:2294 UniProtKB/Swiss-Prot
NCBI Gene 2294 ENTREZGENE
OMIM 265380 OMIM
  601089 OMIM
Pfam Forkhead UniProtKB/Swiss-Prot
PharmGKB PA28226 PharmGKB
PRINTS FORKHEAD UniProtKB/Swiss-Prot
PROSITE FORK_HEAD_1 UniProtKB/Swiss-Prot
  FORK_HEAD_2 UniProtKB/Swiss-Prot
  FORK_HEAD_3 UniProtKB/Swiss-Prot
SMART SM00339 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot
UniProt A0A161DGH1_HUMAN UniProtKB/TrEMBL
  FOXF1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6JSE1_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2RAF4 UniProtKB/Swiss-Prot
  Q5FWE5 UniProtKB/Swiss-Prot