Advanced Search (OLGA)

Gene: FOXD1 (forkhead box D1) Homo sapiens

Analyze

Symbol:

FOXD1

Name:

forkhead box D1

RGD ID:

1343882

HGNC Page

HGNC:3802

Description:

Enables DNA binding activity, bending and sequence-specific DNA binding activity. Predicted to be involved in several processes, including kidney development; positive regulation of BMP signaling pathway; and regulation of gene expression. Predicted to act upstream of or within axon guidance; branching involved in ureteric bud morphogenesis; and positive regulation of transcription by RNA polymerase II. Predicted to be located in chromatin.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

FKHL8; forkhead box protein D1; Forkhead, drosophila, homolog-like 8; forkhead-like 8; forkhead-related activator 4; forkhead-related protein FKHL8; forkhead-related transcription factor 4; FREAC-4; FREAC4

RGD Orthologs

Alliance Orthologs

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):	Foxd1 (forkhead box D1)	HGNC	HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB
Rattus norvegicus (Norway rat):	Foxd1 (forkhead box D1)	HGNC	HomoloGene, NCBI, OMA, OrthoDB
Chinchilla lanigera (long-tailed chinchilla):	Foxd1 (forkhead box D1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	FOXD1 (forkhead box D1)	NCBI	Ortholog
Canis lupus familiaris (dog):	FOXD1 (forkhead box D1)	HGNC	NCBI
Sus scrofa (pig):	FOXD1 (forkhead box D1)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	FOXD1 (forkhead box D1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Foxd1 (forkhead box D1)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Foxd1 (forkhead box D1)	Alliance	DIOPT (HGNC\|OrthoInspector)
Mus musculus (house mouse):	Foxd1 (forkhead box D1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	foxd1 (forkhead box D1)	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	unc-130	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|OrthoFinder\|PANTHER\|SonicParanoid)
Drosophila melanogaster (fruit fly):	fd59A	Alliance	DIOPT (OrthoFinder\|PANTHER\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	foxd1	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	foxd1.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	foxd1.L	Alliance	DIOPT (Xenbase)

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	5	73,446,266 - 73,448,777 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	73,444,827 - 73,448,777 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	72,742,093 - 72,744,602 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	72,777,839 - 72,780,108 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	72,777,870 - 72,780,356	NCBI
Celera	5	68,637,378 - 68,639,649 (-)	NCBI		Celera
Cytogenetic Map	5	q13.2	NCBI
HuRef	5	67,947,569 - 67,949,821 (-)	NCBI		HuRef
CHM1_1	5	72,174,804 - 72,177,081 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	5	73,927,589 - 73,930,100 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

hereditary breast ovarian cancer syndrome (IAGP)

Neurodevelopmental Disorders (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane (EXP)

1,1-dichloroethene (ISO)

17beta-estradiol (EXP)

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

4,4'-sulfonyldiphenol (EXP,ISO)

ammonium chloride (ISO)

arsane (EXP)

arsenic atom (EXP)

benzo[a]pyrene (EXP)

benzo[a]pyrene diol epoxide I (EXP)

bis(2-ethylhexyl) phthalate (EXP,ISO)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

cannabidiol (EXP)

carbamazepine (EXP)

choline (ISO)

cisplatin (EXP)

cobalt dichloride (EXP)

coumestrol (EXP)

crocidolite asbestos (EXP)

cyclosporin A (EXP)

DDE (EXP)

diallyl trisulfide (EXP)

diethylstilbestrol (EXP)

entinostat (EXP)

folic acid (ISO)

genistein (EXP)

gentamycin (ISO)

hydrazine (ISO)

isotretinoin (EXP)

L-methionine (ISO)

Licochalcone B (EXP)

manganese atom (EXP)

manganese(0) (EXP)

manganese(II) chloride (EXP)

N-nitrosodiethylamine (ISO)

nickel atom (EXP)

paracetamol (ISO)

phenethyl caffeate (ISO)

resveratrol (EXP)

rofecoxib (EXP)

silver atom (ISO)

silver(0) (ISO)

sodium arsenate (EXP)

sodium arsenite (EXP)

temozolomide (EXP)

tert-butyl hydroperoxide (EXP,ISO)

titanium dioxide (ISO)

topotecan (EXP)

trichloroethene (ISO)

urethane (EXP)

valproic acid (EXP,ISO)

zearalenone (EXP)

zinc atom (EXP)

zinc dichloride (EXP)

zinc(0) (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

anatomical structure morphogenesis (IBA)

axon guidance (IEA)

branching involved in ureteric bud morphogenesis (IEA)

canonical Wnt signaling pathway (IEA)

cell differentiation (IBA)

dichotomous subdivision of terminal units involved in ureteric bud branching (IEA,ISS)

kidney development (IEA)

luteinizing hormone secretion (IEA)

metanephric capsule development (IEA,ISS)

metanephric capsule specification (IEA,ISS)

metanephric nephron development (IEA)

negative regulation of DNA-templated transcription (IEA,ISS)

nephrogenic mesenchyme development (IEA)

pattern specification involved in metanephros development (IEA)

positive regulation of BMP signaling pathway (IEA,ISS)

positive regulation of gene expression (IEA,ISS)

positive regulation of kidney development (IEA,ISS)

positive regulation of transcription by RNA polymerase II (IEA,ISO)

regulation of DNA-templated transcription (IEA)

regulation of transcription by RNA polymerase II (IBA)

Cellular Component

chromatin (ISA)

nucleus (IC,IEA)

Molecular Function

DNA binding (IDA,IEA)

DNA binding, bending (IDA)

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

DNA-binding transcription factor activity (IEA,TAS)

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

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

sequence-specific DNA binding (IDA,IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:7957066	PMID:8702877	PMID:8825632	PMID:15492844	PMID:15716278	PMID:16585573	PMID:19626042	PMID:21873635	PMID:24099863	PMID:25462566	PMID:25550559	PMID:25609649
PMID:27569208	PMID:27609421	PMID:27805902	PMID:28075458	PMID:29864920	PMID:29936179	PMID:30110134	PMID:30158529	PMID:30225541	PMID:30562753	PMID:30635407	PMID:30933975
PMID:31252264	PMID:31395028	PMID:32294305	PMID:32460412	PMID:32568181	PMID:33352248	PMID:33761914	PMID:33837564	PMID:34028536	PMID:34184566	PMID:34269372	PMID:34403535
PMID:34767742	PMID:34772357	PMID:35112956	PMID:35435161	PMID:35579380	PMID:35607308	PMID:35974001	PMID:36057597	PMID:37203394

Genomics

Comparative Map Data

FOXD1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	73,446,266 - 73,448,777 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	73,444,827 - 73,448,777 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	72,742,093 - 72,744,602 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	72,777,839 - 72,780,108 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	72,777,870 - 72,780,356	NCBI
Celera	5	68,637,378 - 68,639,649 (-)	NCBI		Celera
Cytogenetic Map	5	q13.2	NCBI
HuRef	5	67,947,569 - 67,949,821 (-)	NCBI		HuRef
CHM1_1	5	72,174,804 - 72,177,081 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	5	73,927,589 - 73,930,100 (-)	NCBI		T2T-CHM13v2.0

Foxd1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	13	98,490,753 - 98,493,213 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	13	98,490,750 - 98,495,813 (+)	Ensembl		GRCm39 Ensembl
GRCm38	13	98,354,245 - 98,356,705 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	13	98,354,242 - 98,359,305 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	13	99,124,200 - 99,126,660 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	13	99,454,412 - 99,456,849 (+)	NCBI		MGSCv36	mm8
Celera	13	102,010,574 - 102,012,702 (+)	NCBI		Celera
Cytogenetic Map	13	D1	NCBI
cM Map	13	51.96	NCBI

Foxd1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	2	31,436,802 - 31,439,222 (+)	NCBI		GRCr8
mRatBN7.2	2	29,702,558 - 29,704,978 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	2	29,702,558 - 29,704,978 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	2	36,759,829 - 36,762,247 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	2	34,854,175 - 34,856,593 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	2	29,672,088 - 29,674,506 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	2	28,460,068 - 28,462,488 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	2	28,460,068 - 28,462,488 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	2	47,560,939 - 47,563,359 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	2	28,944,067 - 28,945,665 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	2	28,864,816 - 28,865,119 (+)	NCBI
Celera	2	25,739,043 - 25,741,152 (+)	NCBI		Celera
Cytogenetic Map	2	q12	NCBI

Foxd1
(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	NW_004955425	27,158,601 - 27,159,447 (+)	NCBI	ChiLan1.0	ChiLan1.0

FOXD1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	4	41,869,400 - 41,871,933 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	5	40,021,506 - 40,025,581 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	5	41,867,118 - 41,870,497 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3

FOXD1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Dog10K_Boxer_Tasha	2	53,266,967 - 53,269,485 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	2	56,812,484 - 56,814,991 (-)	NCBI		ROS_Cfam_1.0
UMICH_Zoey_3.1	2	53,873,429 - 53,875,972 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	2	54,641,541 - 54,644,071 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	2	55,532,914 - 55,535,465 (-)	NCBI		UU_Cfam_GSD_1.0

FOXD1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	82,607,848 - 82,609,248 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	82,607,113 - 82,612,005 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

FOXD1
(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	4	67,790,423 - 67,796,901 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666049	16,561,007 - 16,563,829 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Foxd1
(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_004624905	2,487,981 - 2,490,068 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in FOXD1
55 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	copy number gain	See cases [RCV000138780]	Chr5:22149..74412725 [GRCh38] Chr5:22149..73708550 [GRCh37] Chr5:75149..73744306 [NCBI36] Chr5:5p15.33-q13.3	pathogenic
NM_004472.3(FOXD1):c.415C>G (p.Leu139Val)	single nucleotide variant	Hereditary breast ovarian cancer syndrome [RCV001374577]	Chr5:73447948 [GRCh38] Chr5:72743773 [GRCh37] Chr5:5q13.2	uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	copy number gain	See cases [RCV000510723]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	copy number loss	See cases [RCV000511978]	Chr5:17628741..176575720 [GRCh37] Chr5:5p15.1-q35.2	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	copy number gain	See cases [RCV000512039]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
NM_004472.3(FOXD1):c.277G>A (p.Ala93Thr)	single nucleotide variant	not specified [RCV004296012]	Chr5:73448086 [GRCh38] Chr5:72743911 [GRCh37] Chr5:5q13.2	uncertain significance
NM_004472.3(FOXD1):c.223G>A (p.Asp75Asn)	single nucleotide variant	not specified [RCV004292755]	Chr5:73448140 [GRCh38] Chr5:72743965 [GRCh37] Chr5:5q13.2	uncertain significance
NM_004472.3(FOXD1):c.1143C>T (p.Ala381=)	single nucleotide variant	not specified [RCV000609430]	Chr5:73447220 [GRCh38] Chr5:72743047 [GRCh37] Chr5:5q13.2	likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3	copy number gain	not provided [RCV000744323]	Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3	copy number gain	not provided [RCV000744317]	Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5q13.2(chr5:72735544-72784002)x1	copy number loss	not provided [RCV000744848]	Chr5:72735544..72784002 [GRCh37] Chr5:5q13.2	benign
GRCh37/hg19 5q13.2(chr5:72741402-72744467)x3	copy number gain	not provided [RCV000744849]	Chr5:72741402..72744467 [GRCh37] Chr5:5q13.2	benign
GRCh37/hg19 5q13.2(chr5:72742882-72744021)x1	copy number loss	not provided [RCV000744850]	Chr5:72742882..72744021 [GRCh37] Chr5:5q13.2	benign
GRCh37/hg19 5q13.2(chr5:72742882-72744467)x1	copy number loss	not provided [RCV000744851]	Chr5:72742882..72744467 [GRCh37] Chr5:5q13.2	benign
GRCh37/hg19 5q13.2(chr5:72742882-72784002)x1	copy number loss	not provided [RCV000744852]	Chr5:72742882..72784002 [GRCh37] Chr5:5q13.2	benign
GRCh37/hg19 5q13.2(chr5:72743226-72744021)x1	copy number loss	not provided [RCV000744853]	Chr5:72743226..72744021 [GRCh37] Chr5:5q13.2	benign
GRCh37/hg19 5q13.2(chr5:72743812-72744467)x4	copy number gain	not provided [RCV000744854]	Chr5:72743812..72744467 [GRCh37] Chr5:5q13.2	benign
Single allele	deletion	Neurodevelopmental disorder [RCV000787436]	Chr5:14685137..149511942 [GRCh37] Chr5:5p15.2-q32	uncertain significance
GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	copy number loss	Intellectual disability [RCV000984869]	Chr5:58785203..73519962 [GRCh38] Chr5:5q11.2-13.2	likely pathogenic
NM_004472.3(FOXD1):c.332G>A (p.Gly111Asp)	single nucleotide variant	not specified [RCV004317945]	Chr5:73448031 [GRCh38] Chr5:72743856 [GRCh37] Chr5:5q13.2	uncertain significance
NM_004472.3(FOXD1):c.265C>A (p.Pro89Thr)	single nucleotide variant	not specified [RCV004326679]	Chr5:73448098 [GRCh38] Chr5:72743923 [GRCh37] Chr5:5q13.2	uncertain significance
NM_004472.3(FOXD1):c.358A>G (p.Lys120Glu)	single nucleotide variant	not specified [RCV004161703]	Chr5:73448005 [GRCh38] Chr5:72743830 [GRCh37] Chr5:5q13.2	uncertain significance
NM_004472.3(FOXD1):c.280C>G (p.Pro94Ala)	single nucleotide variant	not specified [RCV004239726]	Chr5:73448083 [GRCh38] Chr5:72743908 [GRCh37] Chr5:5q13.2	uncertain significance
NM_004472.3(FOXD1):c.149C>T (p.Ala50Val)	single nucleotide variant	not specified [RCV004240803]	Chr5:73448214 [GRCh38] Chr5:72744039 [GRCh37] Chr5:5q13.2	uncertain significance
NM_004472.3(FOXD1):c.262G>C (p.Ala88Pro)	single nucleotide variant	not specified [RCV004147697]	Chr5:73448101 [GRCh38] Chr5:72743926 [GRCh37] Chr5:5q13.2	uncertain significance
NM_004472.3(FOXD1):c.90C>G (p.Asp30Glu)	single nucleotide variant	not specified [RCV004115250]	Chr5:73448273 [GRCh38] Chr5:72744098 [GRCh37] Chr5:5q13.2	uncertain significance
NM_004472.3(FOXD1):c.134G>C (p.Arg45Pro)	single nucleotide variant	not specified [RCV004254138]	Chr5:73448229 [GRCh38] Chr5:72744054 [GRCh37] Chr5:5q13.2	uncertain significance
NM_004472.3(FOXD1):c.216G>C (p.Glu72Asp)	single nucleotide variant	not specified [RCV004337699]	Chr5:73448147 [GRCh38] Chr5:72743972 [GRCh37] Chr5:5q13.2	likely benign
NM_004472.3(FOXD1):c.1005C>T (p.Gly335=)	single nucleotide variant	FOXD1-related disorder [RCV003901024]\|not specified [RCV004348112]	Chr5:73447358 [GRCh38] Chr5:72743185 [GRCh37] Chr5:5q13.2	likely benign
NM_004472.3(FOXD1):c.25G>C (p.Asp9His)	single nucleotide variant	not specified [RCV004339486]	Chr5:73448338 [GRCh38] Chr5:72744163 [GRCh37] Chr5:5q13.2	uncertain significance
GRCh37/hg19 5q13.2-13.3(chr5:72551652-73317520)x3	copy number gain	not provided [RCV003484614]	Chr5:72551652..73317520 [GRCh37] Chr5:5q13.2-13.3	uncertain significance
NM_004472.3(FOXD1):c.333C>A (p.Gly111=)	single nucleotide variant	FOXD1-related disorder [RCV003946954]	Chr5:73448030 [GRCh38] Chr5:72743855 [GRCh37] Chr5:5q13.2	likely benign
NM_004472.3(FOXD1):c.-21CGC[3]	microsatellite	FOXD1-related disorder [RCV003919771]	Chr5:73448372..73448374 [GRCh38] Chr5:72744197..72744199 [GRCh37] Chr5:5q13.2	likely benign
NM_004472.3(FOXD1):c.564C>G (p.Arg188=)	single nucleotide variant	FOXD1-related disorder [RCV003893964]	Chr5:73447799 [GRCh38] Chr5:72743624 [GRCh37] Chr5:5q13.2	likely benign
NM_004472.3(FOXD1):c.1290_1295dup (p.Ala434_Ser435insAlaAla)	duplication	FOXD1-related disorder [RCV003979093]	Chr5:73447067..73447068 [GRCh38] Chr5:72742894..72742895 [GRCh37] Chr5:5q13.2	likely benign
NM_004472.3(FOXD1):c.255C>T (p.Gly85=)	single nucleotide variant	FOXD1-related disorder [RCV003951457]	Chr5:73448108 [GRCh38] Chr5:72743933 [GRCh37] Chr5:5q13.2	likely benign
NM_004472.3(FOXD1):c.324C>G (p.Gly108=)	single nucleotide variant	FOXD1-related disorder [RCV003959485]	Chr5:73448039 [GRCh38] Chr5:72743864 [GRCh37] Chr5:5q13.2	likely benign
NM_004472.3(FOXD1):c.486C>T (p.Tyr162=)	single nucleotide variant	FOXD1-related disorder [RCV003947105]	Chr5:73447877 [GRCh38] Chr5:72743702 [GRCh37] Chr5:5q13.2	likely benign
NM_004472.3(FOXD1):c.1146_1160del (p.Gln383_Ala387del)	deletion	FOXD1-related disorder [RCV003924428]	Chr5:73447203..73447217 [GRCh38] Chr5:72743030..72743044 [GRCh37] Chr5:5q13.2	benign
NM_004472.3(FOXD1):c.744G>T (p.Ala248=)	single nucleotide variant	FOXD1-related disorder [RCV003902250]	Chr5:73447619 [GRCh38] Chr5:72743444 [GRCh37] Chr5:5q13.2	likely benign
NM_004472.3(FOXD1):c.-6A>C	single nucleotide variant	FOXD1-related disorder [RCV003921797]	Chr5:73448368 [GRCh38] Chr5:72744193 [GRCh37] Chr5:5q13.2	likely benign
NM_004472.3(FOXD1):c.6C>T (p.Thr2=)	single nucleotide variant	FOXD1-related disorder [RCV003949214]	Chr5:73448357 [GRCh38] Chr5:72744182 [GRCh37] Chr5:5q13.2	likely benign
NM_004472.3(FOXD1):c.237G>A (p.Leu79=)	single nucleotide variant	FOXD1-related disorder [RCV003914250]	Chr5:73448126 [GRCh38] Chr5:72743951 [GRCh37] Chr5:5q13.2	likely benign
NM_004472.3(FOXD1):c.759C>G (p.Ala253=)	single nucleotide variant	FOXD1-related disorder [RCV003914024]	Chr5:73447604 [GRCh38] Chr5:72743429 [GRCh37] Chr5:5q13.2	likely benign
NM_004472.3(FOXD1):c.681C>A (p.Leu227=)	single nucleotide variant	FOXD1-related disorder [RCV003914676]	Chr5:73447682 [GRCh38] Chr5:72743507 [GRCh37] Chr5:5q13.2	likely benign
NM_004472.3(FOXD1):c.1260C>T (p.Ala420=)	single nucleotide variant	FOXD1-related disorder [RCV003896392]	Chr5:73447103 [GRCh38] Chr5:72742930 [GRCh37] Chr5:5q13.2	likely benign
NM_004472.3(FOXD1):c.798G>A (p.Pro266=)	single nucleotide variant	FOXD1-related disorder [RCV003973821]	Chr5:73447565 [GRCh38] Chr5:72743390 [GRCh37] Chr5:5q13.2	likely benign
NM_004472.3(FOXD1):c.273C>G (p.Gly91=)	single nucleotide variant	FOXD1-related disorder [RCV003931464]	Chr5:73448090 [GRCh38] Chr5:72743915 [GRCh37] Chr5:5q13.2	likely benign
NM_004472.3(FOXD1):c.153GCG[5] (p.Arg57del)	microsatellite	FOXD1-related disorder [RCV003976494]	Chr5:73448193..73448195 [GRCh38] Chr5:72744018..72744020 [GRCh37] Chr5:5q13.2	benign
NM_004472.3(FOXD1):c.1170CTCGCC[4] (p.Pro396_Val397insSerPro)	microsatellite	FOXD1-related disorder [RCV003898971]	Chr5:73447175..73447176 [GRCh38] Chr5:72743002..72743003 [GRCh37] Chr5:5q13.2	likely benign
NM_004472.3(FOXD1):c.609G>C (p.Pro203=)	single nucleotide variant	FOXD1-related disorder [RCV003899390]	Chr5:73447754 [GRCh38] Chr5:72743579 [GRCh37] Chr5:5q13.2	likely benign
NM_004472.3(FOXD1):c.318_338del (p.Gly107_Gly113del)	deletion	FOXD1-related disorder [RCV003906827]	Chr5:73448025..73448045 [GRCh38] Chr5:72743850..72743870 [GRCh37] Chr5:5q13.2	likely benign
NM_004472.3(FOXD1):c.789G>C (p.Pro263=)	single nucleotide variant	FOXD1-related disorder [RCV003971501]	Chr5:73447574 [GRCh38] Chr5:72743399 [GRCh37] Chr5:5q13.2	likely benign
NM_004472.3(FOXD1):c.1251C>A (p.Gly417=)	single nucleotide variant	FOXD1-related disorder [RCV003969261]	Chr5:73447112 [GRCh38] Chr5:72742939 [GRCh37] Chr5:5q13.2	likely benign
NM_004472.3(FOXD1):c.315C>T (p.Gly105=)	single nucleotide variant	FOXD1-related disorder [RCV003969738]	Chr5:73448048 [GRCh38] Chr5:72743873 [GRCh37] Chr5:5q13.2	likely benign
NM_004472.3(FOXD1):c.263C>G (p.Ala88Gly)	single nucleotide variant	FOXD1-related disorder [RCV003978917]	Chr5:73448100 [GRCh38] Chr5:72743925 [GRCh37] Chr5:5q13.2	benign
NM_004472.3(FOXD1):c.756A>G (p.Ala252=)	single nucleotide variant	FOXD1-related disorder [RCV003913933]	Chr5:73447607 [GRCh38] Chr5:72743432 [GRCh37] Chr5:5q13.2	likely benign
NM_004472.3(FOXD1):c.612G>A (p.Glu204=)	single nucleotide variant	FOXD1-related disorder [RCV003914146]	Chr5:73447751 [GRCh38] Chr5:72743576 [GRCh37] Chr5:5q13.2	likely benign
NM_004472.3(FOXD1):c.858G>A (p.Ala286=)	single nucleotide variant	FOXD1-related disorder [RCV003896458]	Chr5:73447505 [GRCh38] Chr5:72743330 [GRCh37] Chr5:5q13.2	likely benign
NM_004472.3(FOXD1):c.889_890dup (p.Ala298fs)	duplication	FOXD1-related disorder [RCV003916945]	Chr5:73447472..73447473 [GRCh38] Chr5:5q13.2	likely benign
GRCh37/hg19 5q12.3-13.2(chr5:64364710-72835471)x1	copy number loss	See cases [RCV004442777]	Chr5:64364710..72835471 [GRCh37] Chr5:5q12.3-13.2	pathogenic
NM_004472.3(FOXD1):c.202C>A (p.Leu68Met)	single nucleotide variant	not specified [RCV004392152]	Chr5:73448161 [GRCh38] Chr5:72743986 [GRCh37] Chr5:5q13.2	uncertain significance
NM_004472.3(FOXD1):c.298G>A (p.Ala100Thr)	single nucleotide variant	not specified [RCV004392154]	Chr5:73448065 [GRCh38] Chr5:72743890 [GRCh37] Chr5:5q13.2	uncertain significance
NM_004472.3(FOXD1):c.565G>A (p.Glu189Lys)	single nucleotide variant	not specified [RCV004392156]	Chr5:73447798 [GRCh38] Chr5:72743623 [GRCh37] Chr5:5q13.2	uncertain significance
NM_004472.3(FOXD1):c.265C>T (p.Pro89Ser)	single nucleotide variant	not specified [RCV004392153]	Chr5:73448098 [GRCh38] Chr5:72743923 [GRCh37] Chr5:5q13.2	uncertain significance
NM_004472.3(FOXD1):c.118G>A (p.Gly40Ser)	single nucleotide variant	not specified [RCV004392150]	Chr5:73448245 [GRCh38] Chr5:72744070 [GRCh37] Chr5:5q13.2	uncertain significance
NM_004472.3(FOXD1):c.189C>G (p.Asp63Glu)	single nucleotide variant	not specified [RCV004392151]	Chr5:73448174 [GRCh38] Chr5:72743999 [GRCh37] Chr5:5q13.2	uncertain significance
NM_004472.3(FOXD1):c.349A>T (p.Ser117Cys)	single nucleotide variant	not specified [RCV004392155]	Chr5:73448014 [GRCh38] Chr5:72743839 [GRCh37] Chr5:5q13.2	uncertain significance
NM_004472.3(FOXD1):c.667C>T (p.Arg223Trp)	single nucleotide variant	not specified [RCV004392157]	Chr5:73447696 [GRCh38] Chr5:72743521 [GRCh37] Chr5:5q13.2	uncertain significance
NM_004472.3(FOXD1):c.248C>T (p.Ala83Val)	single nucleotide variant	not specified [RCV004626135]	Chr5:73448115 [GRCh38] Chr5:72743940 [GRCh37] Chr5:5q13.2	uncertain significance
NM_004472.3(FOXD1):c.380C>G (p.Pro127Arg)	single nucleotide variant	not specified [RCV004626137]	Chr5:73447983 [GRCh38] Chr5:72743808 [GRCh37] Chr5:5q13.2	uncertain significance
NM_004472.3(FOXD1):c.281C>T (p.Pro94Leu)	single nucleotide variant	not specified [RCV004919237]	Chr5:73448082 [GRCh38] Chr5:72743907 [GRCh37] Chr5:5q13.2	uncertain significance
NM_004472.3(FOXD1):c.119G>T (p.Gly40Val)	single nucleotide variant	not specified [RCV004919238]	Chr5:73448244 [GRCh38] Chr5:72744069 [GRCh37] Chr5:5q13.2	uncertain significance
NM_004472.3(FOXD1):c.703G>A (p.Glu235Lys)	single nucleotide variant	not specified [RCV004919239]	Chr5:73447660 [GRCh38] Chr5:72743485 [GRCh37] Chr5:5q13.2	uncertain significance
NM_004472.3(FOXD1):c.370G>T (p.Val124Leu)	single nucleotide variant	not specified [RCV004919240]	Chr5:73447993 [GRCh38] Chr5:72743818 [GRCh37] Chr5:5q13.2	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	458
Count of miRNA genes:	365
Interacting mature miRNAs:	383
Transcripts:	ENST00000499003, ENST00000513595
Prediction methods:	Microtar, Miranda, Rnahybrid
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.

Markers in Region

RH98761

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	72,742,712 - 72,742,792	UniSTS	GRCh37
Build 36	5	72,778,468 - 72,778,548	RGD	NCBI36
Celera	5	68,638,007 - 68,638,087	RGD
Cytogenetic Map	5	q12-q13	UniSTS
HuRef	5	67,948,198 - 67,948,278	UniSTS
GeneMap99-GB4 RH Map	5	357.8	UniSTS

FOXD1_1155

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	72,741,995 - 72,742,823	UniSTS	GRCh37
Build 36	5	72,777,751 - 72,778,579	RGD	NCBI36
Celera	5	68,637,290 - 68,638,118	RGD
HuRef	5	67,947,481 - 67,948,309	UniSTS

UniSTS:491151

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	72,742,699 - 72,744,247	UniSTS	GRCh37
Celera	5	68,637,994 - 68,639,544	UniSTS
HuRef	5	67,948,185 - 67,949,716	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
1128	2274	2724	1893	4926	1323	1850	3	284	1140	126	2250	5512	5188	49	3697	714	1562	1486	170

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_004472	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC099522	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AMYH02011562	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471084	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068273	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT585167	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U13222	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U59831	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U59832	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000513595

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	73,444,827 - 73,446,988 (-)	Ensembl

Ensembl Acc Id:

ENST00000615637 ⟹ ENSP00000481581

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	73,446,266 - 73,448,777 (-)	Ensembl

RefSeq Acc Id:

NM_004472 ⟹ NP_004463

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	73,446,266 - 73,448,777 (-)	NCBI
GRCh37	5	72,742,083 - 72,744,352 (-)	RGD
Build 36	5	72,777,839 - 72,780,108 (-)	NCBI Archive
Celera	5	68,637,378 - 68,639,649 (-)	RGD
HuRef	5	67,947,569 - 67,949,821 (-)	RGD
CHM1_1	5	72,174,804 - 72,177,081 (-)	NCBI
T2T-CHM13v2.0	5	73,927,589 - 73,930,100 (-)	NCBI

Sequence:

show sequence

GGACTCAGCCCTGGCCTCGCCGAGCTCTGTTCTTAGACTCTCACCCGTCCCGCACGTTCCTGGG
CGCCTGGCGTTCTGATTCGCCCGCCCGGGCCCCGCCACCCCCTCCTCAGCTGACGGGGCAAAAG
CTGCTCCGAGAGGAGAAGGTCAAGTCCTCCGCCCGGGCCGGGCGCGAGCGGAGCCCAGGGAGCG
CAGCATCCGCGCGGCTACCGCGGCGGCGCAGGAGTTATAAAGTCGGCGCGCGAGACTCCGCCGC
CACCCGGCAGCCCCGGCGCAGCTCCGGCAGCCGCAGTCGCAGCGCCCCCAGCGTGGCGCCCCCC
GGCCGGGCCTGCCGCCCGGGACCCGGGCTGGGGCGCAGAGGGAGCCCGGAGCCCGGCGCCCCCA
TGCGCCGCCCCGCCGCCGCCGCGCCACAGCTATGACCCTGAGCACTGAGATGTCCGATGCCTCT
GGCCTCGCCGAGGAAACAGACATCGACGTGGTGGGGGAGGGCGAGGACGAAGAAGACGAGGAAG
AGGAGGACGACGACGAGGGCGGCGGTGGCGGGCCCCGGCTGGCTGTCCCCGCGCAGCGGCGGCG
GCGGCGGCGCTCGTACGCCGGGGAGGACGAGCTGGAGGATCTGGAGGAGGAGGAGGACGACGAT
GACATCCTGCTGGCCCCGCCTGCTGGGGGCTCCCCGGCGCCCCCGGGCCCGGCCCCGGCGGCGG
GGGCAGGAGCCGGTGGGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGGAGCGCGGGTAGCGG
CGCCAAGAACCCGCTGGTGAAGCCGCCCTACTCGTATATCGCGCTCATCACTATGGCCATCCTG
CAGAGCCCCAAGAAGCGGCTGACGCTGAGCGAGATCTGTGAGTTCATCAGCGGCCGCTTCCCCT
ACTACCGGGAGAAGTTCCCCGCCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGACTG
CTTCGTCAAGATCCCCCGCGAGCCCGGCAACCCGGGCAAGGGCAACTACTGGACGCTGGACCCG
GAGTCCGCCGACATGTTCGACAACGGCAGCTTCCTGCGCCGGAGGAAGCGCTTCAAGCGGCAGC
CGCTGCTCCCACCCAACGCCGCGGCCGCCGAGTCTCTGCTGCTGCGCGGCGCGGGAGCCGCAGG
GGGCGCGGGCGACCCGGCAGCCGCCGCCGCGCTCTTCCCGCCCGCGCCCCCGCCGCCCCCGCAT
GCCTACGGCTACGGCCCCTACGGCTGCGGCTACGGCCTGCAGCTGCCGCCTTACGCGCCGCCCT
CGGCCCTCTTCGCCGCCGCAGCGGCCGCCGCCGCCGCCGCCGCCTTCCACCCGCACTCGCCCCC
GCCGCCCCCGCCACCGCACGGCGCGGCCGCCGAGCTGGCCCGGACCGCCTTCGGCTACCGGCCG
CACCCGCTCGGCGCCGCCCTACCCGGCCCCCTGCCGGCCTCCGCGGCCAAGGCGGGCGGCCCGG
GCGCCTCAGCGCTGGCGCGCTCGCCCTTCTCCATCGAGAGCATCATCGGGGGCAGCTTGGGCCC
GGCCGCCGCTGCCGCCGCCGCCGCGCAGGCCGCCGCCGCCGCTCAGGCCTCGCCCTCGCCCTCG
CCGGTGGCGGCGCCGCCAGCTCCCGGATCCAGCGGAGGAGGCTGCGCGGCGCAGGCGGCCGTGG
GCCCGGCGGCCGCGCTCACCCGATCCCTCGTGGCCGCCGCGGCCGCCGCCGCCTCCTCAGTCTC
CTCGTCCGCCGCCTTGGGGACTCTGCACCAAGGGACTGCCCTGTCCAGTGTCGAGAACTTTACT
GCTAGGATTTCCAATTGTTAATAACGCTATGTTAGCGCGCTCGAGGAAGAAGGTAGGAATCCCG
GCTCCTTTTCTCGTCTTGGTGGTTCGGTGTTTTGTTCGCTCCTCCAGGCGCGGCCCCTCTCGAC
CTCGCGCGCCCATTTTCGCCGCTGCGAATTCTCGGACAAAACTGTCAACAGCCCGGGCGCGCCT
TTTGGCTCTGCGGGTCCCTCTATTTATGCAAAGCCGACCTATGCTACAGCCCCCCAACCCCCGA
CCTGGGGTAGGGAGGAAGAGGGTGCCGGGGAAGGGAGTCCGCCCTGTCCAGGCACTAGAGGCTC
CCTTGACGTTTGGCAGATGAAAAACAACTAAGCCTTTTTGAGGTGTAGAGATTCTCAGGTCCAG
GCGTTAAAAAATAATGGTCAAAAGAATAATACAAAAATAGTAAAGGTCTTGAAGAATGCCAGCG
AAGCAATTCTTTTTTATTTGAGGACACTTGTCTGGTGTACTTTTTCATGAAAAGGAAAAATGGT
TAACATGTTTACACAAGAAAAAAAGTCAAAATTATCATTTATTTCAACCTGTGTTTTGTATCAT
AACAGACGTGTGGATTTTTTTGTACTTACTGCGTATTCTTTACAAGGAGTATTGTAAATTTTAC
TGGCAATTATTATTGTACTATTCTAAATGTAAGATTTTTACACTTTTTCAGAAATAAAAATGCT
TAATTTTCAAAGAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_004463	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA92039	(Get FASTA)	NCBI Sequence Viewer
	AAC50660	(Get FASTA)	NCBI Sequence Viewer
	AAC50661	(Get FASTA)	NCBI Sequence Viewer
	EAW95721	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000481581
	ENSP00000481581.1
GenBank Protein	Q16676	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_004463 ⟸ NM_004472

- UniProtKB:

Q12949 (UniProtKB/Swiss-Prot), Q16676 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MTLSTEMSDASGLAEETDIDVVGEGEDEEDEEEEDDDEGGGGGPRLAVPAQRRRRRRSYAGEDE
LEDLEEEEDDDDILLAPPAGGSPAPPGPAPAAGAGAGGGGGGGGAGGGGSAGSGAKNPLVKPPY
SYIALITMAILQSPKKRLTLSEICEFISGRFPYYREKFPAWQNSIRHNLSLNDCFVKIPREPGN
PGKGNYWTLDPESADMFDNGSFLRRRKRFKRQPLLPPNAAAAESLLLRGAGAAGGAGDPAAAAA
LFPPAPPPPPHAYGYGPYGCGYGLQLPPYAPPSALFAAAAAAAAAAAFHPHSPPPPPPPHGAAA
ELARTAFGYRPHPLGAALPGPLPASAAKAGGPGASALARSPFSIESIIGGSLGPAAAAAAAAQA
AAAAQASPSPSPVAAPPAPGSSGGGCAAQAAVGPAAALTRSLVAAAAAAASSVSSSAALGTLHQ
GTALSSVENFTARISNC

hide sequence

Ensembl Acc Id:

ENSP00000481581 ⟸ ENST00000615637

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q16676-F1-model_v2	AlphaFold	Q16676	1-465	view protein structure

Promoters

RGD ID:

6803203

Promoter ID:

HG_KWN:50452

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell_12Hour, K562, Lymphoblastoid, NB4

Transcripts:

NM_004472, UC003KCP.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	5	72,779,371 - 72,780,417 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:3802	AgrOrtholog
COSMIC	FOXD1	COSMIC
Ensembl Genes	ENSG00000251493	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000615637	ENTREZGENE
	ENST00000615637.3	UniProtKB/Swiss-Prot
Gene3D-CATH	1.10.10.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000251493	GTEx
HGNC ID	HGNC:3802	ENTREZGENE
Human Proteome Map	FOXD1	Human Proteome Map
InterPro	Fork_head_dom	UniProtKB/Swiss-Prot
	FOX_domain-containing	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:2297	UniProtKB/Swiss-Prot
NCBI Gene	2297	ENTREZGENE
OMIM	601091	OMIM
PANTHER	FORKHEAD BOX PROTEIN	UniProtKB/Swiss-Prot
	FORKHEAD BOX PROTEIN D1	UniProtKB/Swiss-Prot
Pfam	Forkhead	UniProtKB/Swiss-Prot
PharmGKB	PA28219	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	FOXD1_HUMAN	UniProtKB/Swiss-Prot
	Q12949	ENTREZGENE
	Q16676	ENTREZGENE
UniProt Secondary	Q12949	UniProtKB/Swiss-Prot

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

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)

Send us a Message

Imported Disease Annotations - ClinVar