FOXF1 (forkhead box F1) - Rat Genome Database

Name: FOXF1
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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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:

Enables 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 be part of chromatin. Predicted to be active in 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 ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Foxf1 (forkhead box F1)	HGNC	Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, PhylomeDB
Rattus norvegicus (Norway rat):	Foxf1 (forkhead box F1)	HGNC	Ensembl, HomoloGene, NCBI, OMA, OrthoDB
Chinchilla lanigera (long-tailed chinchilla):	Foxf1 (forkhead box F1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	FOXF1 (forkhead box F1)	NCBI	Ortholog
Canis lupus familiaris (dog):	FOXF1 (forkhead box F1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Foxf1 (forkhead box F1)	NCBI	Ortholog
Sus scrofa (pig):	FOXF1 (forkhead box F1)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	FOXF1 (forkhead box F1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Foxf1 (forkhead box F1)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Foxf2 (forkhead box F2)	HGNC	OrthoDB
Canis lupus familiaris (dog):	FOXF2 (forkhead box F2)	HGNC	OrthoDB
Sus scrofa (pig):	FOXF2 (forkhead box F2)	HGNC	OrthoDB
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Foxf1 (forkhead box F1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER)
Mus musculus (house mouse):	Foxf1 (forkhead box F1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Danio rerio (zebrafish):	foxf1 (forkhead box F1)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|Roundup\|TreeFam\|ZFIN)
Caenorhabditis elegans (roundworm):	let-381	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|OrthoFinder\|OrthoInspector\|PhylomeDB)
Drosophila melanogaster (fruit fly):	bin	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	16	86,510,527 - 86,515,422 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	16	86,510,527 - 86,515,422 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	16	86,544,133 - 86,549,028 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	85,101,634 - 85,105,571 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	16	85,101,658 - 85,105,548	NCBI
Celera	16	70,844,972 - 70,848,909 (+)	NCBI
Cytogenetic Map	16	q24.1	NCBI
HuRef	16	72,283,842 - 72,287,779 (+)	NCBI		HuRef
CHM1_1	16	87,955,849 - 87,959,786 (+)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

congenital diaphragmatic hernia (EXP)

gastrointestinal stromal tumor (EXP)

mastocytosis (EXP)

Megaduodenum (IAGP)

obstructive lung disease (EXP)

persistent fetal circulation syndrome (IAGP)

primary pulmonary hypertension (IAGP)

Pyloric Stenosis, Infantile Hypertrophic, 5 (IAGP)

VACTERL association (IAGP)

ventricular septal defect (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-catechin (EXP)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,6-di-tert-butyl-4-methylphenol (ISO)

4,4'-sulfonyldiphenol (ISO)

4-hydroperoxycyclophosphamide (ISO)

aflatoxin B1 (EXP,ISO)

arsane (EXP)

arsenic atom (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[b]fluoranthene (ISO)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

carbon nanotube (ISO)

chrysene (ISO)

cyclosporin A (EXP)

gefitinib (ISO)

gentamycin (ISO)

methylmercury chloride (EXP)

N-Nitrosopyrrolidine (EXP)

nickel atom (EXP)

nitrofen (ISO)

paracetamol (EXP)

silicon dioxide (EXP)

silver atom (ISO)

silver(0) (ISO)

sodium arsenate (ISO)

tetrachloromethane (ISO)

tetraphene (ISO)

titanium dioxide (ISO)

trichloroethene (ISO)

triclosan (EXP)

troglitazone (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

animal organ morphogenesis (IBA,IEA,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 (IEA,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 (IEA,IMP,ISO)

lateral mesodermal cell differentiation (IEA,ISO)

lung alveolus development (IEA,ISO)

lung development (IEA,IMP,ISO)

lung lobe morphogenesis (IEA,ISO)

lung morphogenesis (IEA,ISO)

lung vasculature development (IMP)

mesenchyme migration (IEA,ISO)

mesoderm development (IEA,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 (IEA,IMP,ISO)

positive regulation of transcription, DNA-templated (IDA)

regulation of transcription by RNA polymerase II (IBA)

regulation of transcription, DNA-templated (IEA)

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 (IEA,IMP,ISO)

ureter development (IMP)

vasculogenesis (IEA,ISO)

venous blood vessel development (IMP)

Cellular Component

chromatin (ISA)

nucleus (IBA,IC,IEA,TAS)

transcription regulator complex (TAS)

Molecular Function

DNA binding (IDA,IEA)

DNA-binding transcription activator activity, RNA polymerase II-specific (IMP)

DNA-binding transcription factor activity (IEA)

DNA-binding transcription factor activity, RNA polymerase II-specific (IBA,ISA)

RNA polymerase II cis-regulatory region sequence-specific DNA binding (IBA,IEA)

RNA polymerase II transcription regulatory region sequence-specific DNA binding (IMP)

sequence-specific DNA binding (IEA,ISS)

transcription cis-regulatory region binding (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

forkhead class A signaling pathway (EXP)

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)

Bicornuate uterus (IAGP)

Bicuspid aortic valve (IAGP)

Brachycephaly (IAGP)

Butterfly vertebrae (IAGP)

Choroid plexus cyst (IAGP)

Cleft lip (IAGP)

Cleft palate (IAGP)

Coarctation of aorta (IAGP)

Congenital shortened small intestine (IAGP)

Cystic hygroma (IAGP)

Deeply set eye (IAGP)

Diastasis recti (IAGP)

Dilatation of the bladder (IAGP)

Duodenal atresia (IAGP)

Duodenal stenosis (IAGP)

Dysplastic tricuspid valve (IAGP)

Esophageal atresia (IAGP)

Fetal megacystis (IAGP)

Global developmental delay (IAGP)

Hydronephrosis (IAGP)

Hydroureter (IAGP)

Hypertelorism (IAGP)

Hypoplastic aortic arch (IAGP)

Hypoplastic left heart (IAGP)

Hypospadias (IAGP)

Hypotonia (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)

Nonimmune hydrops fetalis (IAGP)

Omphalocele (IAGP)

Parachute mitral valve (IAGP)

Partial anomalous pulmonary venous return (IAGP)

Patent ductus arteriosus (IAGP)

Patent foramen ovale (IAGP)

Persistent fetal circulation (IAGP)

Persistent left superior vena cava (IAGP)

Pleural effusion (IAGP)

Polyhydramnios (IAGP)

Posterior rib fusion (IAGP)

Pulmonary arterial hypertension (IAGP)

Pulmonary artery dilatation (IAGP)

Pulmonary artery stenosis (IAGP)

Pulmonary insufficiency (IAGP)

Pulmonary lymphangiectasia (IAGP)

Pulmonary valve atresia (IAGP)

Respiratory distress (IAGP)

Retrognathia (IAGP)

Right ventricular hypertrophy (IAGP)

Right-to-left shunt (IAGP)

Single umbilical artery (IAGP)

Syringomyelia (IAGP)

Tetralogy of Fallot (IAGP)

Thickened nuchal skin fold (IAGP)

Tracheoesophageal fistula (IAGP)

Urethral atresia (IAGP)

Ventricular septal defect (IAGP)

Ventriculomegaly (IAGP)

Volvulus (IAGP)

References

References - curated


1.	GOA_HUMAN data from the GO Consortium
2.	OMIM Disease Annotation Pipeline
3.	Pipeline to import Pathway Interaction Database annotations from NCI into RGD
4.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5.	RGD automated import pipeline for gene-chemical interactions
6.	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

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:31662342	PMID:31686214	PMID:32036090	PMID:32319573	PMID:32370197	PMID:32987465	PMID:33277571	PMID:33495575	PMID:33522073	PMID:33627785	PMID:33961781
PMID:34257615	PMID:34315444

Genomics

Comparative Map Data

FOXF1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	16	86,510,527 - 86,515,422 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	16	86,510,527 - 86,515,422 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	16	86,544,133 - 86,549,028 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	85,101,634 - 85,105,571 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	16	85,101,658 - 85,105,548	NCBI
Celera	16	70,844,972 - 70,848,909 (+)	NCBI
Cytogenetic Map	16	q24.1	NCBI
HuRef	16	72,283,842 - 72,287,779 (+)	NCBI		HuRef
CHM1_1	16	87,955,849 - 87,959,786 (+)	NCBI		CHM1_1

Foxf1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	121,811,125 - 121,814,893 (+)	NCBI	GRCm39		mm39
GRCm39 Ensembl	8	121,811,125 - 121,814,883 (+)	Ensembl
GRCm38	8	121,084,386 - 121,088,154 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	121,084,386 - 121,088,144 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	123,608,374 - 123,610,779 (+)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	8	123,970,451 - 123,972,856 (+)	NCBI			mm8
Celera	8	125,302,426 - 125,304,831 (+)	NCBI		Celera
Cytogenetic Map	8	E1	NCBI
cM Map	8	70.31	NCBI

Foxf1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	19	49,153,729 - 49,157,741 (+)	NCBI	mRatBN7.2
mRatBN7.2 Ensembl	19	49,153,699 - 49,157,738 (+)	Ensembl
Rnor_6.0	19	53,012,306 - 53,016,100 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	19	53,012,332 - 53,016,086 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	19	63,756,636 - 63,760,430 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Celera	19	48,400,056 - 48,404,066 (+)	NCBI		Celera
Cytogenetic Map	19	q12	NCBI

Foxf1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955541	1,317,114 - 1,346,590 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955541	1,341,715 - 1,345,397 (+)	NCBI	ChiLan1.0	ChiLan1.0

FOXF1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	16	86,515,150 - 86,519,949 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	16	86,516,119 - 86,519,949 (+)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	16	67,183,416 - 67,188,211 (+)	NCBI	Mhudiblu_PPA_v0		panPan3

FOXF1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	66,343,776 - 66,347,785 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	66,345,150 - 66,347,935 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	66,355,810 - 66,359,808 (-)	NCBI
ROS_Cfam_1.0	5	66,565,325 - 66,569,328 (-)	NCBI
ROS_Cfam_1.0 Ensembl	5	66,566,196 - 66,569,484 (-)	Ensembl
UMICH_Zoey_3.1	5	66,588,163 - 66,592,141 (-)	NCBI
UNSW_CanFamBas_1.0	5	66,423,363 - 66,427,352 (-)	NCBI
UU_Cfam_GSD_1.0	5	66,836,698 - 66,840,702 (-)	NCBI

Foxf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024408261	4 - 1,756 (-)	NCBI
SpeTri2.0	NW_004943883	4 - 1,756 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

FOXF1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	2,592,993 - 2,597,659 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	2,579,348 - 2,598,122 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	2,799,092 - 2,801,627 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

FOXF1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	5	71,898,473 - 71,902,624 (+)	NCBI	ChlSab1.1		chlSab2
ChlSab1.1 Ensembl	5	71,898,786 - 71,903,661 (+)	Ensembl	ChlSab1.1		chlSab2
Vero_WHO_p1.0	NW_023666047	3,803,343 - 3,807,492 (-)	NCBI	Vero_WHO_p1.0

Foxf1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624746	2,599,211 - 2,603,031 (+)	NCBI	HetGla_female_1.0		hetGla2

Position Markers

STS-U13219

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	86,546,680 - 86,546,890	UniSTS	GRCh37
Build 36	16	85,104,181 - 85,104,391	RGD	NCBI36
Celera	16	70,847,519 - 70,847,729	RGD
Cytogenetic Map	16	q24	UniSTS
HuRef	16	72,286,389 - 72,286,599	UniSTS
GeneMap99-GB4 RH Map	16	480.18	UniSTS

RH70564

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	86,546,825 - 86,546,951	UniSTS	GRCh37
Build 36	16	85,104,326 - 85,104,452	RGD	NCBI36
Celera	16	70,847,664 - 70,847,790	RGD
Cytogenetic Map	16	q24	UniSTS
HuRef	16	72,286,534 - 72,286,660	UniSTS
GeneMap99-GB4 RH Map	16	481.75	UniSTS
NCBI RH Map	16	666.5	UniSTS

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

382

188

901

469

1001

Low

132

1563

978

577

323

412

2654

187

3420

301

876

457

171

1104

1571

Below cutoff

1204

349

681

1570

1069

214

1209

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_016273	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001451	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC009108	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH006890	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK314167	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY312577	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC089442	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CA438612	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471114	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB011539	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT585126	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT963011	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U13219	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000262426 ⟹ ENSP00000262426

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	16	86,510,527 - 86,515,422 (+)	Ensembl

RefSeq Acc Id:

NM_001451 ⟹ NP_001442

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	86,510,527 - 86,515,422 (+)	NCBI
GRCh37	16	86,544,133 - 86,548,070 (+)	ENTREZGENE
Build 36	16	85,101,634 - 85,105,571 (+)	NCBI Archive
HuRef	16	72,283,842 - 72,287,779 (+)	ENTREZGENE
CHM1_1	16	87,955,849 - 87,959,786 (+)	NCBI

Sequence:

show sequence

GCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAG
CAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCG
CGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGCCGCC
CTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTG
AGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCGGGGCTCCTACCAGGGCTGGA
AGAACTCCGTGCGCCACAACCTCTCGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGG
GCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGC
TCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCA
TGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGG
CCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTG
CCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCG
GCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTC
GGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTAC
TCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATA
TCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCAC
GCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGC
ATCCCGCGGTATCACTCGCAGTCGCCCAGCATGTGTGACCGAAAGGAGTTTGTCTTCTCTTTCA
ACGCCATGGCGTCCTCTTCCATGCACTCGGCCGGCGGGGGCTCCTACTACCACCAGCAGGTCAC
CTACCAAGACATCAAGCCTTGCGTGATGTGAGGCTGCCGCCGCAGGCCCTCCTGGTGCAGGCAG
GCGGGTCACAGGGACCCTGGACCGGCACAAGAAACTGCTTTCTTCTCGAGGTATAACCGTCGGC
AGAAGAAAAGGGTTCCACCTCTCCCCAACCGGAGTTTTTGGCAAGGAGTCCCCAATGCAAAGAC
ACAGCGCTGCGGTTGGCACCTCCTTCCTCACTCCTTCAAAATTGTTAAGAAATGTTAGTGGTGG
GTCTGATCTGACTGCAGCCATCGGTAAATAAAAGTTTTTGATCCTGTTGAACCCGCCTGAGACG
GTGCTGTGCAGGGGAAAGCCCCCGCACCCACACAGGAATTCTGCTGAGGTCCCCCCTCCTTCCG
GCCAATGGCAGAAGTGGGGGAAAATTTTTAGAAGAAAAGCAAACATGTGAGACCAATCATTATC
AAATACTTTTATTTTTTGGTTGAGTATTTATCTTTTTATTTTTTATTTTTTTTTTGAAAGAATG
TCTTGGAATGCGCAAGTCTCCCTTTAGAGCCGTCTTTTGCAGGGAGCGGGAAGTGACAAGAGCT
CAGATCTCCCTCCCGATCTCCCTCCCCACCTCCGAAGTCTCCTCCGTGGACCACAGGTGGATCT
TTGTGCGAACAACTTGCATTTCGGAAGCCACTGTCCGTCTTTAAACAGAAAGTCAAAGGAGCCA
CGAAGCAAGCGGCCGTCCGGGCGTCCGCCTCCGTCCCCTTCCATGTTCCTCCTCTTCCTTCGCT
TCAGCCTCTTCTGTTATGTTTTGTCTTGAATTTTATTTAGACTTTTTCAGTGGGTATTTTTCTG
TCTCCCAACCTCTACTGTAAACTTTCTGGTCCGAGAACGAGCCGAACACAGCGCGACGCAGGGA
CTAGGACGGCCCGGTGACCGCGCGGATTCAGGATTGCGGGGACGCAGAAAGGTTAAGGCACTTT
TAAAAACTATAGCAAGGCTCCTGTTTATTTATTCTACTTTCTTTCCCTAATAATCAAAACACCG
CGTAGGCTCCTCCGTTTATCAGTATTAATGGTGTAACTTTGTTGGCAATATTTGCCGTGTAGAA
TTTTTTTTAGATATCCATTGTAAATTTGAAACAAAGACCGATCTGTGTAAAAACAAATTTCCAT
ATGTTTTATATAAATATATATATAATATGAAGGACTACCCTCCTTTTTTTTTTTTGTATTTTGG
CTGCTAGAGTGCAGCATTTGTGACACGTATTTGAAATTTGAAATTTCCTTCTGCACTGTATAAA
AGGACCATTTGAGGATGTTTTGCCTTTTGTGTATTTTTTCCTAAAAAAAGAACAAAAATAAAAA
TGTATAACATTTGTACATGGCCTTTAAAATTGTATCAACTAGAAATAAAATTGCATGAGTATTT
TATTGGGACTGAGATTGTAGAATACCTTCCAGACTCCCAAAGATAGAGGGGGGAAAAAAGAAAA
AACAGGCTTTGGATCTCTAGACGCTTAAAAATTTACAATCTGGGTGATTCTGAGTACTTTTTTC
TTTTTTGGCAAATCCTCCTCTTTTCACTCTTCATTCCACTTTGAAGTAAACGCTGGACAAGAGG
AACTATTTTTCTTGGCTTCTGTTTTTTAAGAAGAGCCCTTTGCCCCTCTAAATGTCATTGATCG
TTTTAAAGAAATAAACTTTTAAAGAACACTATAGACCTCCTTCCCCTAGGGAACACCAATTAAA
CCATATATGTGCACATACATATGGATATACATATATATGTATATACATATATGTACATATATGT
ATACGTGTCCATGTACATAATATATATTTTTTTGCCACTACAAGACCAATGAGAGTTTTACTTT
GGGTTTCCGACTTTCTTGTTCTCTTGCTGTAGCTGTTATAAATCGTGAATCAACTTTAAGGTTT
TTTTGTAGTTGTTGGTTTGTCTTGTTTTGTTTTGGCTTTTTGGTGCCTTGTTCTTGGTTTTCCC
CGATAGAAAATCAAGCAAAATCTAAATGAGGCAAAAGGGCGCTTGGTGGGCCAGGTGACAGGCA
CCTTTCCAATCCTGTAACATTTATCTCCTAAGTCACAGTTCGTCCTCTCTGGGGGAAAAATATT
TTTTAACACTTGTACCTTCCACTGACCACCCTCTTTCTATTCCAGTTCCCGGCTACCGAGAAAA
ACAAACACAGTAAGTCACATTGTTGGTGCGGTCCTTCCAGACCCACCGCAGTGTCTTGCGTCGT
GGGGTCGTGAGTCTCTGAACCTGGTTCTTCTCAGAGTTGACATTTTGGACGTGGGGGTAATTTC
TCCGGTGCTCTGTTACATCAAAATTATCAATAAACTCGCCTGGGCAATTAGTGTCCCCAACTAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001442	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC50399	(Get FASTA)	NCBI Sequence Viewer
	AAC61576	(Get FASTA)	NCBI Sequence Viewer
	AAH89442	(Get FASTA)	NCBI Sequence Viewer
	AAR16182	(Get FASTA)	NCBI Sequence Viewer
	ALV87640	(Get FASTA)	NCBI Sequence Viewer
	BAG36851	(Get FASTA)	NCBI Sequence Viewer
	EAW95424	(Get FASTA)	NCBI Sequence Viewer
	Q12946	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:

NP_001442 ⟸ NM_001451

- UniProtKB:

Q12946 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MSSAPEKQQPPHGGGGGGGGGGGAAMDPASSGPSKAKKTNAGIRRPEKPPYSYIALIVMAIQSS
PTKRLTLSEIYQFLQSRFPFFRGSYQGWKNSVRHNLSLNECFIKLPKGLGRPGKGHYWTIDPAS
EFMFEEGSFRRRPRGFRRKCQALKPMYSMMNGLGFNHLPDTYGFQGSAGGLSCPPNSLALEGGL
GMMNGHLPGNVDGMALPSHSVPHLPSNGGHSYMGGCGGAAAGEYPHHDSSVPASPLLPTGAGGV
MEPHAVYSGSAAAWPPSASAALNSGASYIKQQPLSPCNPAANPLSGSLSTHSLEQPYLHQNSHN
APAELQGIPRYHSQSPSMCDRKEFVFSFNAMASSSMHSAGGGSYYHQQVTYQDIKPCVM

hide 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 Assembly	Chr	Position (strand)	Source
Build 36	16	85,100,461 - 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 Assembly	Chr	Position (strand)	Source
GRCh38	16	86,510,527 - 86,510,587	EPDNEW

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001451.3(FOXF1):c.850dup (p.Tyr284fs)	duplication	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV000008985]	Chr16:86511417..86511418 [GRCh38] Chr16:86545023..86545024 [GRCh37] Chr16:16q24.1	pathogenic
FOXF1, 2-BP DEL, 956TT	deletion	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV000008986]	Chr16:16q24	pathogenic
NM_001451.3(FOXF1):c.225C>A (p.Tyr75Ter)	single nucleotide variant	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV000008983]	Chr16:86510794 [GRCh38] Chr16:86544400 [GRCh37] Chr16:16q24.1	pathogenic
NM_001451.3(FOXF1):c.1138T>C (p.Ter380Arg)	single nucleotide variant	Alveolar capillary dysplasia with pulmonary venous misalignment [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	Alveolar capillary dysplasia with pulmonary venous misalignment [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	Alveolar capillary dysplasia with pulmonary venous misalignment [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	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV000271929]\|not provided [RCV001636904]	Chr16:86514250 [GRCh38] Chr16:86547856 [GRCh37] Chr16:16q24.1	benign\|conflicting interpretations of pathogenicity
NM_001451.3(FOXF1):c.645C>T (p.His215=)	single nucleotide variant	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV000273481]\|not provided [RCV000888843]	Chr16:86511214 [GRCh38] Chr16:86544820 [GRCh37] Chr16:16q24.1	benign
NM_001451.3(FOXF1):c.*98A>G	single nucleotide variant	not provided [RCV001691388]	Chr16:86513183 [GRCh38] Chr16:86546789 [GRCh37] Chr16:16q24.1	benign\|likely benign
NM_001451.3(FOXF1):c.471_472dup	duplication	Alveolar capillary dysplasia with pulmonary venous misalignment [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	not provided [RCV001683883]	Chr16:86513281 [GRCh38] Chr16:86546887 [GRCh37] Chr16:16q24.1	benign
NM_001451.3(FOXF1):c.*1298dup	duplication	Alveolar capillary dysplasia with pulmonary venous misalignment [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	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV000352368]\|not provided [RCV001712035]	Chr16:86513394..86513395 [GRCh38] Chr16:86547000..86547001 [GRCh37] Chr16:16q24.1	benign\|uncertain significance
NM_001451.3(FOXF1):c.*472dup	duplication	Alveolar capillary dysplasia with pulmonary venous misalignment [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	Alveolar capillary dysplasia with pulmonary venous misalignment [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	not provided [RCV001620253]	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	not provided [RCV001696612]	Chr16:86514232 [GRCh38] Chr16:86547838 [GRCh37] Chr16:16q24.1	benign\|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	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV000390590]	Chr16:86513395..86513396 [GRCh38] Chr16:86547001..86547002 [GRCh37] Chr16:16q24.1	uncertain significance
NM_001451.3(FOXF1):c.60_62del (p.Gly23del)	deletion	Alveolar capillary dysplasia with pulmonary venous misalignment [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	Alveolar capillary dysplasia with pulmonary venous misalignment [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.36CGG[9] (p.Gly23dup)	microsatellite	Alveolar capillary dysplasia with pulmonary venous misalignment [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	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV000310628]\|not provided [RCV001672528]	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	Alveolar capillary dysplasia with pulmonary venous misalignment [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	Poly (ADP-Ribose) polymerase 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	Poly (ADP-Ribose) polymerase 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	Alveolar capillary dysplasia with pulmonary venous misalignment [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
NM_001451.3(FOXF1):c.276G>A (p.Trp92Ter)	single nucleotide variant	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV001731125]	Chr16:86510845 [GRCh38] Chr16:86544451 [GRCh37] Chr16:16q24.1	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	Alveolar capillary dysplasia with pulmonary venous misalignment [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	Alveolar capillary dysplasia with pulmonary venous misalignment [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	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV000984335]	Chr16:86511434..86511441 [GRCh38] Chr16:86545040..86545047 [GRCh37] Chr16:16q24.1	pathogenic
NM_001451.3(FOXF1):c.899_903dup (p.Gly302fs)	duplication	Alveolar capillary dysplasia with pulmonary venous misalignment [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	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV000984337]	Chr16:86510760 [GRCh38] Chr16:86544366 [GRCh37] Chr16:16q24.1	pathogenic
NM_001451.3(FOXF1):c.1139G>C (p.Ter380Ser)	single nucleotide variant	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV000984338]	Chr16:86513084 [GRCh38] Chr16:86546690 [GRCh37] Chr16:16q24.1	pathogenic
NM_001451.3(FOXF1):c.221T>A (p.Ile74Asn)	single nucleotide variant	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV000984339]	Chr16:86510790 [GRCh38] Chr16:86544396 [GRCh37] Chr16:16q24.1	pathogenic
NM_001451.3(FOXF1):c.539C>A (p.Ser180Ter)	single nucleotide variant	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV000984340]	Chr16:86511108 [GRCh38] Chr16:86544714 [GRCh37] Chr16:16q24.1	pathogenic
NM_001451.3(FOXF1):c.294C>A (p.His98Gln)	single nucleotide variant	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV000984341]	Chr16:86510863 [GRCh38] Chr16:86544469 [GRCh37] Chr16:16q24.1	pathogenic
NM_001451.3(FOXF1):c.862C>T (p.Gln288Ter)	single nucleotide variant	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV000984342]	Chr16:86511431 [GRCh38] Chr16:86545037 [GRCh37] Chr16:16q24.1	pathogenic
NM_001451.3(FOXF1):c.316T>C (p.Phe106Leu)	single nucleotide variant	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV000984343]	Chr16:86510885 [GRCh38] Chr16:86544491 [GRCh37] Chr16:16q24.1	pathogenic
NM_001451.3(FOXF1):c.849_850del (p.Ile285fs)	deletion	Alveolar capillary dysplasia with pulmonary venous misalignment [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	Alveolar capillary dysplasia with pulmonary venous misalignment [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	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV000850162]	Chr16:86511205 [GRCh38] Chr16:86544811 [GRCh37] Chr16:16q24.1	uncertain significance
NM_001451.3(FOXF1):c.1083G>A (p.Gly361=)	single nucleotide variant	Alveolar capillary dysplasia with pulmonary venous misalignment [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	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV001007918]	Chr16:86510982 [GRCh38] Chr16:86544588 [GRCh37] Chr16:16q24.1	likely pathogenic
NM_001451.3(FOXF1):c.950del (p.Asn317fs)	deletion	Alveolar capillary dysplasia with pulmonary venous misalignment [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	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV001199825]	Chr16:86510735 [GRCh38] Chr16:86544341 [GRCh37] Chr16:16q24.1	likely pathogenic
NM_001451.3(FOXF1):c.691_698del (p.Ala231fs)	microsatellite	Alveolar capillary dysplasia with pulmonary venous misalignment [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	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV000984333]	Chr16:86510714 [GRCh38] Chr16:86544320 [GRCh37] Chr16:16q24.1	pathogenic
NM_001451.3(FOXF1):c.969C>A (p.Ala323=)	single nucleotide variant	Alveolar capillary dysplasia with pulmonary venous misalignment [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.979+302C>T	single nucleotide variant	not provided [RCV001658628]	Chr16:86511850 [GRCh38] Chr16:86545456 [GRCh37] Chr16:16q24.1	benign
Single allele	single nucleotide variant	not provided [RCV001676880]	Chr16:86510441 [GRCh38] Chr16:86544047 [GRCh37] Chr16:16q24.1	benign
Single allele	single nucleotide variant	not provided [RCV001638241]	Chr16:86510208 [GRCh38] Chr16:86543814 [GRCh37] Chr16:16q24.1	benign
NM_001451.3(FOXF1):c.1057_1078dup (p.Gly360fs)	duplication	Alveolar capillary dysplasia with pulmonary venous misalignment [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	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV001172235]	Chr16:86510822 [GRCh38] Chr16:86544428 [GRCh37] Chr16:16q24.1	pathogenic
NM_001451.3(FOXF1):c.979+302C>G	single nucleotide variant	not provided [RCV001681914]	Chr16:86511850 [GRCh38] Chr16:86545456 [GRCh37] Chr16:16q24.1	benign
NM_001451.3(FOXF1):c.57_60del (p.Gly20fs)	deletion	Alveolar capillary dysplasia with pulmonary venous misalignment [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	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV001199829]	Chr16:86243180..87703229 [GRCh37] Chr16:16q24.1-24.2	pathogenic
NM_001451.3(FOXF1):c.780_781delinsTC (p.Ala261Pro)	indel	Alveolar capillary dysplasia with pulmonary venous misalignment [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	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV001254639]	Chr16:86511148 [GRCh38] Chr16:86544754 [GRCh37] Chr16:16q24.1	likely benign
NM_001451.3(FOXF1):c.965del (p.Pro322fs)	deletion	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV001251454]	Chr16:86511531 [GRCh38] Chr16:86545137 [GRCh37] Chr16:16q24.1	pathogenic
NM_001451.3(FOXF1):c.266A>G (p.Tyr89Cys)	single nucleotide variant	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV001251453]	Chr16:86510835 [GRCh38] Chr16:86544441 [GRCh37] Chr16:16q24.1	likely pathogenic
NM_001451.3(FOXF1):c.286G>T (p.Val96Leu)	single nucleotide variant	Alveolar capillary dysplasia with pulmonary venous misalignment [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	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV001255166]	Chr16:86511496 [GRCh38] Chr16:86545102 [GRCh37] Chr16:16q24.1	likely benign
NM_001451.3(FOXF1):c.238_239del (p.Ser80fs)	microsatellite	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV001291933]	Chr16:86510805..86510806 [GRCh38] Chr16:86544411..86544412 [GRCh37] Chr16:16q24.1	pathogenic
NM_001451.3(FOXF1):c.980-304T>C	single nucleotide variant	not provided [RCV001540463]	Chr16:86512621 [GRCh38] Chr16:86546227 [GRCh37] Chr16:16q24.1	benign
NM_001451.3(FOXF1):c.886G>A (p.Ala296Thr)	single nucleotide variant	not provided [RCV001355751]	Chr16:86511455 [GRCh38] Chr16:86545061 [GRCh37] Chr16:16q24.1	uncertain significance
NM_001451.3(FOXF1):c.668C>A (p.Ser223Ter)	single nucleotide variant	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV001331935]	Chr16:86511237 [GRCh38] Chr16:86544843 [GRCh37] Chr16:16q24.1	pathogenic
NM_001451.3(FOXF1):c.-2C>T	single nucleotide variant	Alveolar capillary dysplasia with pulmonary venous misalignment [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	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV001291932]	Chr16:86510871 [GRCh38] Chr16:86544477 [GRCh37] Chr16:16q24.1	pathogenic
NM_001451.3(FOXF1):c.525G>C (p.Ser175=)	single nucleotide variant	not provided [RCV001531240]	Chr16:86511094 [GRCh38] Chr16:86544700 [GRCh37] Chr16:16q24.1	likely benign
NM_001451.3(FOXF1):c.56dup (p.Gly20fs)	duplication	not provided [RCV001389090]	Chr16:86510623..86510624 [GRCh38] Chr16:86544229..86544230 [GRCh37] Chr16:16q24.1	pathogenic
NM_001451.3(FOXF1):c.889del (p.Ala297fs)	deletion	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV001783307]		pathogenic
NM_001451.3(FOXF1):c.179C>T (p.Ala60Val)	single nucleotide variant	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV001733841]	Chr16:86510748 [GRCh38] Chr16:86544354 [GRCh37] Chr16:16q24.1	likely pathogenic
NM_001451.3(FOXF1):c.852_856del (p.Tyr284_Lys286delinsTer)	deletion	Alveolar capillary dysplasia with pulmonary venous misalignment [RCV001733881]	Chr16:86511420..86511424 [GRCh38] Chr16:86545026..86545030 [GRCh37] Chr16:16q24.1	pathogenic
NM_001451.3(FOXF1):c.713A>C (p.His238Pro)	single nucleotide variant	not provided [RCV001757884]	Chr16:86511282 [GRCh38] Chr16:86544888 [GRCh37] Chr16:16q24.1	uncertain significance

Additional Information

External Database Links

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

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InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - PID (archival)

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - PID (archival)