CleftGeneDB-Search

Gene: NODAL

Basic information

Tag	Content
Uniprot ID	Q96S42; Q2M3A5; Q8N4V3;
Entrez ID	4838
Genbank protein ID	AAI12026.1; AAH33585.1; BAB62524.1; AAI04977.1;
Genbank nucleotide ID	NM_018055.4
Ensembl protein ID	ENSP00000287139
Ensembl nucleotide ID	ENSG00000156574
Gene name	Nodal homolog
Gene symbol	NODAL
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Essential for mesoderm formation and axial patterning during embryonic development.
Sequence	MHAHCLPFLL HAWWALLQAG AATVATALLR TRGQPSSPSP LAYMLSLYRD PLPRADIIRS 60 LQAEDVAVDG QNWTFAFDFS FLSQQEDLAW AELRLQLSSP VDLPTEGSLA IEIFHQPKPD 120 TEQASDSCLE RFQMDLFTVT LSQVTFSLGS MVLEVTRPLS KWLKHPGALE KQMSRVAGEC 180 WPRPPTPPAT NVLLMLYSNL SQEQRQLGGS TLLWEAESSW RAQEGQLSWE WGKRHRRHHL 240 PDRSQLCRKV KFQVDFNLIG WGSWIIYPKQ YNAYRCEGEC PNPVGEEFHP TNHAYIQSLL 300 KRYQPHRVPS TCCAPVKTKP LSMLYVDNGR VLLDHHKDMI VEECGCL 347

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
4N1D

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	NODAL	530748	E1BJ34		Bos taurus	Prediction	More>>
1:1 ortholog	NODAL	489028	E2RP99		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	NODAL	102170202	A0A452DL50		Capra hircus	Prediction	More>>
1:1 ortholog	NODAL	100072735	F6Y3I3		Equus caballus	Prediction	More>>
1:1 ortholog	NODAL	4838	Q96S42		Homo sapiens	Prediction	More>>
1:1 ortholog	Nodal	18119	P43021	CLO	Mus musculus	Publication	More>>
1:1 ortholog	NODAL	466100	H2Q215		Pan troglodytes	Prediction	More>>
1:1 ortholog	NODAL		A0A287AVE0		Sus scrofa	Prediction	More>>
1:1 ortholog	Nodal	294503	D3ZGK9		Rattus norvegicus	Prediction	More>>
1:1 ortholog	spaw		F1QX69		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs369308826	p.Ala3Thr	missense variant	-	NC_000010.11:g.70441661C>T	ESP,ExAC,TOPMed,gnomAD
rs781717746	p.Ala3Val	missense variant	-	NC_000010.11:g.70441660G>A	ExAC,gnomAD
rs1323229721	p.Pro7Leu	missense variant	-	NC_000010.11:g.70441648G>A	gnomAD
rs575222192	p.Pro7Thr	missense variant	-	NC_000010.11:g.70441649G>T	1000Genomes,ExAC,gnomAD
rs563120968	p.Leu10Met	missense variant	-	NC_000010.11:g.70441640G>T	1000Genomes,TOPMed,gnomAD
rs1215144471	p.Ala12Gly	missense variant	-	NC_000010.11:g.70441633G>C	TOPMed
rs990069140	p.Leu17Phe	missense variant	-	NC_000010.11:g.70441619G>A	TOPMed,gnomAD
rs1441391199	p.Gln18Pro	missense variant	-	NC_000010.11:g.70441615T>G	gnomAD
rs1441391199	p.Gln18Arg	missense variant	-	NC_000010.11:g.70441615T>C	gnomAD
rs1393185892	p.Ala19Thr	missense variant	-	NC_000010.11:g.70441613C>T	gnomAD
rs1192993371	p.Ala19Glu	missense variant	-	NC_000010.11:g.70441612G>T	TOPMed,gnomAD
rs762619921	p.Gly20Ser	missense variant	-	NC_000010.11:g.70441610C>T	ExAC,TOPMed
rs1452229395	p.Ala21Val	missense variant	-	NC_000010.11:g.70441606G>A	gnomAD
rs1269607863	p.Ala22Val	missense variant	-	NC_000010.11:g.70441603G>A	gnomAD
rs750115289	p.Thr23Met	missense variant	-	NC_000010.11:g.70441600G>A	ExAC,TOPMed,gnomAD
rs1485678798	p.Ala25Thr	missense variant	-	NC_000010.11:g.70441595C>T	gnomAD
rs765059366	p.Thr26Ser	missense variant	-	NC_000010.11:g.70441592T>A	ExAC,gnomAD
rs1432911277	p.Ala27Val	missense variant	-	NC_000010.11:g.70441588G>A	gnomAD
rs1361094337	p.Leu28Phe	missense variant	-	NC_000010.11:g.70441586G>A	TOPMed
rs1234671553	p.Arg32Trp	missense variant	-	NC_000010.11:g.70441574G>A	gnomAD
rs768615876	p.Arg32Leu	missense variant	-	NC_000010.11:g.70441573C>A	ExAC,gnomAD
rs760567592	p.Gly33Glu	missense variant	-	NC_000010.11:g.70441570C>T	ExAC,gnomAD
rs1380108149	p.Ser36Leu	missense variant	-	NC_000010.11:g.70441561G>A	gnomAD
RCV000302530	p.Ala42Val	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.70441543G>A	ClinVar
rs146471900	p.Ala42Val	missense variant	-	NC_000010.11:g.70441543G>A	ESP,gnomAD
rs146471900	p.Ala42Glu	missense variant	-	NC_000010.11:g.70441543G>T	ESP,gnomAD
RCV000390453	p.Ala42Val	missense variant	Heterotaxia	NC_000010.11:g.70441543G>A	ClinVar
rs774448003	p.Tyr43Cys	missense variant	-	NC_000010.11:g.70441540T>C	ExAC,gnomAD
rs749452324	p.Met44Lys	missense variant	-	NC_000010.11:g.70441537A>T	ExAC,gnomAD
rs770936322	p.Met44Leu	missense variant	-	NC_000010.11:g.70441538T>G	ExAC,TOPMed,gnomAD
rs898049091	p.Met44Ile	missense variant	-	NC_000010.11:g.70441536C>G	TOPMed
rs1478333035	p.Ser46Asn	missense variant	-	NC_000010.11:g.70441531C>T	gnomAD
rs1477581536	p.Tyr48Asp	missense variant	-	NC_000010.11:g.70441526A>C	gnomAD
rs1386462321	p.Arg49Gly	missense variant	-	NC_000010.11:g.70441523G>C	TOPMed
rs1386462321	p.Arg49Cys	missense variant	-	NC_000010.11:g.70441523G>A	TOPMed
rs534164882	p.Pro51Leu	missense variant	-	NC_000010.11:g.70441516G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1264165819	p.Pro51Ala	missense variant	-	NC_000010.11:g.70441517G>C	gnomAD
rs1264165819	p.Pro51Ser	missense variant	-	NC_000010.11:g.70441517G>A	gnomAD
rs1201491650	p.Pro53Leu	missense variant	-	NC_000010.11:g.70441510G>A	gnomAD
rs573099167	p.Arg54Lys	missense variant	-	NC_000010.11:g.70441507C>T	1000Genomes,ExAC,gnomAD
rs1373404828	p.Ala55Thr	missense variant	-	NC_000010.11:g.70441505C>T	TOPMed
NCI-TCGA novel	p.Asp56Asn	missense variant	-	NC_000010.11:g.70441502C>T	NCI-TCGA
rs755474548	p.Ile57Asn	missense variant	-	NC_000010.11:g.70441498A>T	ExAC,gnomAD
rs781453947	p.Ile57Leu	missense variant	-	NC_000010.11:g.70441499T>G	ExAC,gnomAD
NCI-TCGA novel	p.Ile58Thr	missense variant	-	NC_000010.11:g.70441495A>G	NCI-TCGA
rs752031634	p.Arg59Leu	missense variant	-	NC_000010.11:g.70441492C>A	ExAC,gnomAD
rs1353285969	p.Ser60Asn	missense variant	-	NC_000010.11:g.70441489C>T	gnomAD
rs1414914299	p.Ala63Val	missense variant	-	NC_000010.11:g.70441480G>A	TOPMed,gnomAD
rs1414914299	p.Ala63Glu	missense variant	-	NC_000010.11:g.70441480G>T	TOPMed,gnomAD
rs1166158482	p.Glu64Lys	missense variant	-	NC_000010.11:g.70441478C>T	gnomAD
rs1219433400	p.Asp65Asn	missense variant	-	NC_000010.11:g.70441475C>T	TOPMed
rs1449441105	p.Val66Glu	missense variant	-	NC_000010.11:g.70435980A>T	gnomAD
rs886047105	p.Val68Ala	missense variant	-	NC_000010.11:g.70435974A>G	gnomAD
RCV000350811	p.Val68Ala	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.70435974A>G	ClinVar
RCV000372771	p.Val68Ala	missense variant	Heterotaxia	NC_000010.11:g.70435974A>G	ClinVar
NCI-TCGA novel	p.Val68Met	missense variant	-	NC_000010.11:g.70435975C>T	NCI-TCGA
rs1277590262	p.Asp69Tyr	missense variant	-	NC_000010.11:g.70435972C>A	TOPMed,gnomAD
rs748403461	p.Gln71Lys	missense variant	-	NC_000010.11:g.70435966G>T	ExAC,gnomAD
rs138195571	p.Asn72Lys	missense variant	-	NC_000010.11:g.70435961G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1323418445	p.Trp73Leu	missense variant	-	NC_000010.11:g.70435959C>A	TOPMed,gnomAD
RCV000271207	p.Thr74Met	missense variant	Heterotaxia	NC_000010.11:g.70435956G>A	ClinVar
RCV000330986	p.Thr74Met	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.70435956G>A	ClinVar
rs886047104	p.Thr74Met	missense variant	-	NC_000010.11:g.70435956G>A	TOPMed,gnomAD
rs780420812	p.Ala76Val	missense variant	-	NC_000010.11:g.70435950G>A	ExAC,gnomAD
rs1349418733	p.Ala76Thr	missense variant	-	NC_000010.11:g.70435951C>T	gnomAD
rs200705528	p.Phe81Leu	missense variant	-	NC_000010.11:g.70435936A>G	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Gln84Ter	stop gained	-	NC_000010.11:g.70435927G>A	NCI-TCGA
rs147012385	p.Glu86Lys	missense variant	-	NC_000010.11:g.70435921C>T	1000Genomes,ExAC,gnomAD
rs1382696912	p.Trp90Arg	missense variant	-	NC_000010.11:g.70435909A>G	gnomAD
rs1192370600	p.Glu92Lys	missense variant	-	NC_000010.11:g.70435903C>T	gnomAD
RCV000360224	p.Arg94Gln	missense variant	Heterotaxia	NC_000010.11:g.70435896C>T	ClinVar
RCV000270266	p.Arg94Gln	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.70435896C>T	ClinVar
RCV000325273	p.Arg94Trp	missense variant	Heterotaxia	NC_000010.11:g.70435897G>A	ClinVar
RCV000384350	p.Arg94Trp	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.70435897G>A	ClinVar
rs778607015	p.Arg94Trp	missense variant	-	NC_000010.11:g.70435897G>A	ExAC,gnomAD
rs146018217	p.Arg94Gln	missense variant	-	NC_000010.11:g.70435896C>T	ESP,ExAC,TOPMed,gnomAD
rs752600236	p.Ser98Pro	missense variant	-	NC_000010.11:g.70435885A>G	ExAC,TOPMed,gnomAD
COSM685474	p.Ser99Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.70435880G>C	NCI-TCGA Cosmic
RCV000305471	p.Ser99Ter	frameshift	NODAL-Related Disorders	NC_000010.11:g.70435881del	ClinVar
rs767425070	p.Ser99Gly	missense variant	-	NC_000010.11:g.70435882T>C	ExAC,TOPMed,gnomAD
COSM3790916	p.Pro100Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.70435879G>C	NCI-TCGA Cosmic
rs773239739	p.Val101Leu	missense variant	-	NC_000010.11:g.70435876C>G	ExAC,TOPMed,gnomAD
rs773239739	p.Val101Met	missense variant	-	NC_000010.11:g.70435876C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro104AlaPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.70435868_70435869insCA	NCI-TCGA
rs761968038	p.Thr105Ala	missense variant	-	NC_000010.11:g.70435864T>C	ExAC,gnomAD
COSM920012	p.Gly107Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.70435858C>A	NCI-TCGA Cosmic
rs1275535870	p.Gly107Asp	missense variant	-	NC_000010.11:g.70435857C>T	gnomAD
rs776724504	p.Leu109Phe	missense variant	-	NC_000010.11:g.70435852G>A	ExAC,gnomAD
rs768992025	p.Ile111Val	missense variant	-	NC_000010.11:g.70435846T>C	ExAC,gnomAD
rs1362902193	p.Ile113Thr	missense variant	-	NC_000010.11:g.70435839A>G	gnomAD
rs747322630	p.Phe114Ser	missense variant	-	NC_000010.11:g.70435836A>G	ExAC,gnomAD
rs775973023	p.His115Tyr	missense variant	-	NC_000010.11:g.70435834G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His115Gln	missense variant	-	NC_000010.11:g.70435832G>C	NCI-TCGA
rs1191284806	p.Gln116His	missense variant	-	NC_000010.11:g.70435829C>G	gnomAD
rs140876376	p.Pro119Ser	missense variant	-	NC_000010.11:g.70435822G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140876376	p.Pro119Ala	missense variant	-	NC_000010.11:g.70435822G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro119His	missense variant	-	NC_000010.11:g.70435821G>T	NCI-TCGA
rs756839201	p.Asp120Asn	missense variant	-	NC_000010.11:g.70435819C>T	ExAC,TOPMed,gnomAD
rs748901621	p.Thr121Lys	missense variant	-	NC_000010.11:g.70435815G>T	ExAC,gnomAD
rs1287933676	p.Thr121Ser	missense variant	-	NC_000010.11:g.70435816T>A	TOPMed,gnomAD
NCI-TCGA novel	p.Thr121Ala	missense variant	-	NC_000010.11:g.70435816T>C	NCI-TCGA
rs777283021	p.Glu122Gln	missense variant	-	NC_000010.11:g.70435813C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu122Asp	missense variant	-	NC_000010.11:g.70435811C>A	NCI-TCGA
COSM6130037	p.Ala124Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.70435807C>T	NCI-TCGA Cosmic
rs755850269	p.Ser125Leu	missense variant	-	NC_000010.11:g.70435803G>A	ExAC,gnomAD
rs1410825241	p.Asp126Ala	missense variant	-	NC_000010.11:g.70435800T>G	gnomAD
rs767335219	p.Asp126Asn	missense variant	-	NC_000010.11:g.70435801C>T	ExAC,gnomAD
rs1277783829	p.Glu130Lys	missense variant	-	NC_000010.11:g.70435789C>T	gnomAD
rs1475197178	p.Glu130Gly	missense variant	-	NC_000010.11:g.70435788T>C	TOPMed
rs751514518	p.Arg131Pro	missense variant	-	NC_000010.11:g.70435785C>G	ExAC,TOPMed,gnomAD
rs754863183	p.Arg131Trp	missense variant	-	NC_000010.11:g.70435786G>A	ExAC,gnomAD
rs751514518	p.Arg131Gln	missense variant	-	NC_000010.11:g.70435785C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg131Gly	missense variant	-	NC_000010.11:g.70435786G>C	NCI-TCGA
RCV000754879	p.Gln133Ter	nonsense	Visceral heterotaxy 5, autosomal (HTX5)	NC_000010.11:g.70435780G>A	ClinVar
rs1447874899	p.Gln133Ter	stop gained	-	NC_000010.11:g.70435780G>A	gnomAD
COSM3440094	p.Met134Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.70435775C>T	NCI-TCGA Cosmic
rs761797212	p.Asp135Gly	missense variant	-	NC_000010.11:g.70435773T>C	ExAC,gnomAD
rs1415658466	p.Leu136Val	missense variant	-	NC_000010.11:g.70435771G>C	gnomAD
NCI-TCGA novel	p.Leu136Arg	missense variant	-	NC_000010.11:g.70435770A>C	NCI-TCGA
rs776830054	p.Thr138Ser	missense variant	-	NC_000010.11:g.70435764G>C	ExAC,TOPMed,gnomAD
rs776830054	p.Thr138Ile	missense variant	-	NC_000010.11:g.70435764G>A	ExAC,TOPMed,gnomAD
rs767390431	p.Val139Ala	missense variant	-	NC_000010.11:g.70435761A>G	gnomAD
rs1176353462	p.Thr140Ala	missense variant	-	NC_000010.11:g.70435759T>C	TOPMed
rs1398227747	p.Gln143Arg	missense variant	-	NC_000010.11:g.70435749T>C	TOPMed
rs976302673	p.Val144Phe	missense variant	-	NC_000010.11:g.70435747C>A	gnomAD
rs976302673	p.Val144Ile	missense variant	-	NC_000010.11:g.70435747C>T	gnomAD
rs760997424	p.Thr145Ile	missense variant	-	NC_000010.11:g.70435743G>A	ExAC,gnomAD
NCI-TCGA novel	p.Thr145Asn	missense variant	-	NC_000010.11:g.70435743G>T	NCI-TCGA
NCI-TCGA novel	p.Gly149Ser	missense variant	-	NC_000010.11:g.70435732C>T	NCI-TCGA
rs1316642787	p.Met151Ile	missense variant	-	NC_000010.11:g.70435724C>T	TOPMed
rs966599321	p.Val152Ile	missense variant	-	NC_000010.11:g.70435723C>T	TOPMed
rs775957408	p.Leu153Phe	missense variant	-	NC_000010.11:g.70435718C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg157Ser	missense variant	-	NC_000010.11:g.70435706C>A	NCI-TCGA
rs1257541157	p.Pro158Ser	missense variant	-	NC_000010.11:g.70435705G>A	gnomAD
rs772585502	p.Pro158Leu	missense variant	-	NC_000010.11:g.70435704G>A	ExAC,TOPMed,gnomAD
rs775000387	p.Leu159Pro	missense variant	-	NC_000010.11:g.70435701A>G	ExAC,gnomAD
rs1310948587	p.Trp162Ter	stop gained	-	NC_000010.11:g.70435691C>T	gnomAD
rs771630350	p.Lys164Asn	missense variant	-	NC_000010.11:g.70435685C>A	ExAC,gnomAD
RCV000081930	p.His165Arg	missense variant	-	NC_000010.11:g.70435683T>C	ClinVar
RCV000348733	p.His165Arg	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.70435683T>C	ClinVar
rs1904589	p.His165Arg	missense variant	-	NC_000010.11:g.70435683T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs538004915	p.His165Tyr	missense variant	-	NC_000010.11:g.70435684G>A	1000Genomes,ExAC,gnomAD
RCV000755328	p.His165Arg	missense variant	-	NC_000010.11:g.70435683T>C	ClinVar
RCV000400701	p.His165Arg	missense variant	Heterotaxia	NC_000010.11:g.70435683T>C	ClinVar
rs1445254502	p.Pro166Arg	missense variant	-	NC_000010.11:g.70435680G>C	gnomAD
rs1203211297	p.Pro166Ala	missense variant	-	NC_000010.11:g.70435681G>C	TOPMed
rs747861963	p.Gly167Glu	missense variant	-	NC_000010.11:g.70435677C>T	ExAC,TOPMed,gnomAD
rs769295171	p.Gly167Arg	missense variant	-	NC_000010.11:g.70435678C>T	ExAC,TOPMed,gnomAD
rs1465757447	p.Leu169Pro	missense variant	-	NC_000010.11:g.70435671A>G	TOPMed,gnomAD
rs1465757447	p.Leu169Arg	missense variant	-	NC_000010.11:g.70435671A>C	TOPMed,gnomAD
COSM3985718	p.Glu170Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.70435668T>A	NCI-TCGA Cosmic
rs573873795	p.Lys171Met	missense variant	-	NC_000010.11:g.70435665T>A	ExAC,TOPMed,gnomAD
RCV000396599	p.Gln172Glu	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.70435663G>C	ClinVar
RCV000296040	p.Gln172Glu	missense variant	Heterotaxia	NC_000010.11:g.70435663G>C	ClinVar
rs886047102	p.Gln172Glu	missense variant	-	NC_000010.11:g.70435663G>C	TOPMed
rs148812762	p.Met173Thr	missense variant	-	NC_000010.11:g.70435659A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg175Gly	missense variant	-	NC_000010.11:g.70435654T>C	NCI-TCGA
rs907057720	p.Gly178Val	missense variant	-	NC_000010.11:g.70435644C>A	TOPMed
rs779955350	p.Gly178Arg	missense variant	-	NC_000010.11:g.70435645C>T	ExAC,gnomAD
rs1199359463	p.Glu179Lys	missense variant	-	NC_000010.11:g.70435642C>T	gnomAD
rs1459201685	p.Cys180Ser	missense variant	-	NC_000010.11:g.70435638C>G	gnomAD
rs143239895	p.Pro182Leu	missense variant	-	NC_000010.11:g.70435632G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro182Ser	missense variant	-	NC_000010.11:g.70435633G>A	NCI-TCGA
rs104894169	p.Arg183Gln	missense variant	-	NC_000010.11:g.70435629C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201258671	p.Arg183Trp	missense variant	-	NC_000010.11:g.70435630G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs104894169	p.Arg183Gln	missense variant	Heterotaxy, visceral, 5, autosomal (HTX5)	NC_000010.11:g.70435629C>T	UniProt,dbSNP
VAR_015111	p.Arg183Gln	missense variant	Heterotaxy, visceral, 5, autosomal (HTX5)	NC_000010.11:g.70435629C>T	UniProt
RCV000081931	p.Arg183Gln	missense variant	-	NC_000010.11:g.70435629C>T	ClinVar
RCV000287823	p.Pro184Ser	missense variant	Heterotaxia	NC_000010.11:g.70435627G>A	ClinVar
rs752979542	p.Pro184Ser	missense variant	-	NC_000010.11:g.70435627G>A	ExAC,TOPMed,gnomAD
RCV000345169	p.Pro184Ser	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.70435627G>A	ClinVar
rs774912401	p.Thr186Ile	missense variant	-	NC_000010.11:g.70435620G>A	ExAC,gnomAD
rs1398071682	p.Pro187Thr	missense variant	-	NC_000010.11:g.70435618G>T	gnomAD
rs375466579	p.Pro187Leu	missense variant	-	NC_000010.11:g.70435617G>A	ESP,ExAC,TOPMed,gnomAD
rs1398071682	p.Pro187Ala	missense variant	-	NC_000010.11:g.70435618G>C	gnomAD
rs772552336	p.Thr190Asn	missense variant	-	NC_000010.11:g.70435608G>T	ExAC,gnomAD
rs772552336	p.Thr190Ser	missense variant	-	NC_000010.11:g.70435608G>C	ExAC,gnomAD
rs1260007780	p.Asn191Asp	missense variant	-	NC_000010.11:g.70435606T>C	TOPMed
rs769362181	p.Asn191Ser	missense variant	-	NC_000010.11:g.70435605T>C	ExAC,gnomAD
rs139880537	p.Leu193Phe	missense variant	-	NC_000010.11:g.70435600G>A	ESP,TOPMed
rs139880537	p.Leu193Val	missense variant	-	NC_000010.11:g.70435600G>C	ESP,TOPMed
rs746784642	p.Met195Thr	missense variant	-	NC_000010.11:g.70435593A>G	ExAC,gnomAD
rs200445211	p.Leu196Phe	missense variant	-	NC_000010.11:g.70435591G>A	ExAC,TOPMed,gnomAD
rs1209413173	p.Tyr197Ser	missense variant	-	NC_000010.11:g.70435587T>G	gnomAD
RCV000376036	p.Ser198Tyr	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.70435584G>T	ClinVar
RCV000284132	p.Ser198Tyr	missense variant	Heterotaxia	NC_000010.11:g.70435584G>T	ClinVar
rs377663429	p.Ser198Tyr	missense variant	-	NC_000010.11:g.70435584G>T	ESP,ExAC,TOPMed,gnomAD
rs777654691	p.Leu200Phe	missense variant	-	NC_000010.11:g.70435579G>A	ExAC,TOPMed,gnomAD
rs934274234	p.Ser201Leu	missense variant	-	NC_000010.11:g.70435575G>A	TOPMed
RCV000266528	p.Glu203Lys	missense variant	Heterotaxia	NC_000010.11:g.70435570C>T	ClinVar
RCV000324034	p.Glu203Lys	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.70435570C>T	ClinVar
RCV000250863	p.Glu203Lys	missense variant	-	NC_000010.11:g.70435570C>T	ClinVar
rs10999334	p.Glu203Lys	missense variant	-	NC_000010.11:g.70435570C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs759882200	p.Gln204Arg	missense variant	-	NC_000010.11:g.70435566T>C	ExAC,gnomAD
rs1160791133	p.Arg205Trp	missense variant	-	NC_000010.11:g.70435564T>A	TOPMed
rs1363383604	p.Gly208Ser	missense variant	-	NC_000010.11:g.70435555C>T	TOPMed
rs751938859	p.Gly208Asp	missense variant	-	NC_000010.11:g.70435554C>T	ExAC,TOPMed,gnomAD
rs1298589601	p.Ser210Ala	missense variant	-	NC_000010.11:g.70435549A>C	gnomAD
rs1385821725	p.Leu212Trp	missense variant	-	NC_000010.11:g.70435542A>C	gnomAD
rs773777002	p.Trp214Arg	missense variant	-	NC_000010.11:g.70435537A>G	ExAC,gnomAD
rs773777002	p.Trp214Arg	missense variant	-	NC_000010.11:g.70435537A>T	ExAC,gnomAD
NCI-TCGA novel	p.Trp214Ter	stop gained	-	NC_000010.11:g.70435535C>T	NCI-TCGA
rs1417622898	p.Glu215Lys	missense variant	-	NC_000010.11:g.70435534C>T	gnomAD
rs560734164	p.Glu217Lys	missense variant	-	NC_000010.11:g.70435528C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs964173400	p.Ser218Ile	missense variant	-	NC_000010.11:g.70435524C>A	TOPMed,gnomAD
rs776168916	p.Trp220Arg	missense variant	-	NC_000010.11:g.70435519A>G	ExAC,TOPMed,gnomAD
RCV000464032	p.Trp220Arg	missense variant	Visceral heterotaxy 5, autosomal (HTX5)	NC_000010.11:g.70435519A>G	ClinVar
rs144444359	p.Arg221Trp	missense variant	-	NC_000010.11:g.70435516G>A	ESP,ExAC,gnomAD
rs138681813	p.Arg221Gln	missense variant	-	NC_000010.11:g.70435515C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000199745	p.Arg221Gln	missense variant	Visceral heterotaxy 5, autosomal (HTX5)	NC_000010.11:g.70435515C>T	ClinVar
rs1269719287	p.Ala222Asp	missense variant	-	NC_000010.11:g.70435512G>T	gnomAD
rs771912062	p.Gln223His	missense variant	-	NC_000010.11:g.70435508C>G	ExAC,gnomAD
rs745724942	p.Glu224Asp	missense variant	-	NC_000010.11:g.70435505C>G	ExAC,TOPMed,gnomAD
rs1470460821	p.Glu224Lys	missense variant	-	NC_000010.11:g.70435507C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Glu224Gln	missense variant	-	NC_000010.11:g.70435507C>G	NCI-TCGA
rs778904934	p.Gly225Glu	missense variant	-	NC_000010.11:g.70435503C>T	ExAC,gnomAD
RCV000687327	p.Gly225Arg	missense variant	Visceral heterotaxy 5, autosomal (HTX5)	NC_000010.11:g.70435504C>T	ClinVar
rs1222026929	p.Glu230Gly	missense variant	-	NC_000010.11:g.70435488T>C	TOPMed
rs748212376	p.Trp231Ter	stop gained	-	NC_000010.11:g.70435485C>T	ExAC,TOPMed,gnomAD
rs748212376	p.Trp231Ser	missense variant	-	NC_000010.11:g.70435485C>G	ExAC,TOPMed,gnomAD
RCV000754877	p.Arg234Ter	frameshift	Visceral heterotaxy 5, autosomal (HTX5)	NC_000010.11:g.70435471_70435478del	ClinVar
rs1194142220	p.Arg236Cys	missense variant	-	NC_000010.11:g.70435471G>A	TOPMed
rs751847569	p.Arg236His	missense variant	-	NC_000010.11:g.70435470C>T	ExAC,TOPMed,gnomAD
rs1180997172	p.Arg237Gln	missense variant	-	NC_000010.11:g.70435467C>T	TOPMed
rs1438875687	p.Arg237Ter	stop gained	-	NC_000010.11:g.70435468G>A	TOPMed
rs758790389	p.His238Tyr	missense variant	-	NC_000010.11:g.70435465G>A	ExAC,gnomAD
rs1298590689	p.His239Asp	missense variant	-	NC_000010.11:g.70435462G>C	gnomAD
rs1383794491	p.Asp242Gly	missense variant	-	NC_000010.11:g.70435452T>C	gnomAD
COSM4832901	p.Arg243Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.70435449C>G	NCI-TCGA Cosmic
rs750811947	p.Arg243Gly	missense variant	-	NC_000010.11:g.70435450T>C	ExAC
rs765752596	p.Ser244Thr	missense variant	-	NC_000010.11:g.70435446C>G	ExAC,TOPMed,gnomAD
rs765752596	p.Ser244Asn	missense variant	-	NC_000010.11:g.70435446C>T	ExAC,TOPMed,gnomAD
rs1171996140	p.Leu246Val	missense variant	-	NC_000010.11:g.70435441G>C	gnomAD
rs1023858722	p.Arg248Gly	missense variant	-	NC_000010.11:g.70435435G>C	TOPMed,gnomAD
rs1023858722	p.Arg248Trp	missense variant	-	NC_000010.11:g.70435435G>A	TOPMed,gnomAD
RCV000482914	p.Arg248Trp	missense variant	-	NC_000010.11:g.70435435G>A	ClinVar
rs762350525	p.Arg248Gln	missense variant	-	NC_000010.11:g.70435434C>T	ExAC,TOPMed,gnomAD
rs1460088890	p.Val254Leu	missense variant	-	NC_000010.11:g.70435417C>A	TOPMed
NCI-TCGA novel	p.Phe256Cys	missense variant	-	NC_000010.11:g.70435410A>C	NCI-TCGA
rs1168732720	p.Leu258Arg	missense variant	-	NC_000010.11:g.70435404A>C	gnomAD
RCV000622859	p.Gly260Arg	missense variant	Inborn genetic diseases	NC_000010.11:g.70435399C>T	ClinVar
rs121909283	p.Gly260Arg	missense variant	-	NC_000010.11:g.70435399C>T	ExAC,TOPMed,gnomAD
rs121909283	p.Gly260Arg	missense variant	Heterotaxy, visceral, 5, autosomal (HTX5)	NC_000010.11:g.70435399C>T	UniProt,dbSNP
VAR_062281	p.Gly260Arg	missense variant	Heterotaxy, visceral, 5, autosomal (HTX5)	NC_000010.11:g.70435399C>T	UniProt
rs121909283	p.Gly260Ter	stop gained	-	NC_000010.11:g.70435399C>A	ExAC,TOPMed,gnomAD
RCV000853249	p.Gly260Arg	missense variant	heterotaxia syndrome	NC_000010.11:g.70435399C>T	ClinVar
rs760261207	p.Gly262Asp	missense variant	-	NC_000010.11:g.70435392C>T	ExAC,gnomAD
rs1195795425	p.Trp264Gly	missense variant	-	NC_000010.11:g.70435387A>C	gnomAD
COSM4852654	p.Trp264Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.70435385C>A	NCI-TCGA Cosmic
rs775212204	p.Ile265Val	missense variant	-	NC_000010.11:g.70435384T>C	ExAC,gnomAD
rs775212204	p.Ile265Leu	missense variant	-	NC_000010.11:g.70435384T>G	ExAC,gnomAD
rs1256058819	p.Ile266Thr	missense variant	-	NC_000010.11:g.70435380A>G	gnomAD
COSM685476	p.Pro268Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.70435375G>C	NCI-TCGA Cosmic
rs1334528949	p.Lys269Arg	missense variant	-	NC_000010.11:g.70435371T>C	TOPMed
rs1264497080	p.Asn272Asp	missense variant	-	NC_000010.11:g.70435363T>C	gnomAD
rs770958126	p.Ala273Thr	missense variant	-	NC_000010.11:g.70435360C>T	ExAC,gnomAD
COSM3415213	p.Ala273Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.70435359G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr274Ter	stop gained	-	NC_000010.11:g.70435355A>T	NCI-TCGA
RCV000853256	p.Arg275His	missense variant	heterotaxia syndrome	NC_000010.11:g.70435353C>T	ClinVar
rs555563029	p.Arg275His	missense variant	-	NC_000010.11:g.70435353C>T	TOPMed,gnomAD
rs781366461	p.Arg275Cys	missense variant	Heterotaxy, visceral, 5, autosomal (HTX5)	NC_000010.11:g.70435354G>A	UniProt,dbSNP
VAR_062282	p.Arg275Cys	missense variant	Heterotaxy, visceral, 5, autosomal (HTX5)	NC_000010.11:g.70435354G>A	UniProt
rs781366461	p.Arg275Cys	missense variant	-	NC_000010.11:g.70435354G>A	ExAC,TOPMed,gnomAD
RCV000485605	p.Arg275His	missense variant	-	NC_000010.11:g.70435353C>T	ClinVar
rs755116310	p.Glu279Lys	missense variant	-	NC_000010.11:g.70435342C>T	UniProt,dbSNP
VAR_036202	p.Glu279Lys	missense variant	-	NC_000010.11:g.70435342C>T	UniProt
rs755116310	p.Glu279Lys	missense variant	-	NC_000010.11:g.70435342C>T	ExAC,TOPMed,gnomAD
rs193203393	p.Glu279Ala	missense variant	-	NC_000010.11:g.70435341T>G	1000Genomes,ExAC
rs375503197	p.Pro283Ala	missense variant	-	NC_000010.11:g.70435330G>C	ESP,ExAC,gnomAD
rs1310479365	p.Val284Phe	missense variant	-	NC_000010.11:g.70435327C>A	gnomAD
rs758598737	p.Val284Ala	missense variant	-	NC_000010.11:g.70435326A>G	ExAC,gnomAD
rs1225397502	p.Gly285Ala	missense variant	-	NC_000010.11:g.70435323C>G	TOPMed
rs1329399861	p.Glu286Gln	missense variant	-	NC_000010.11:g.70435321C>G	gnomAD
rs150892417	p.Phe288Leu	missense variant	-	NC_000010.11:g.70435313A>C	ESP,ExAC,TOPMed,gnomAD
rs370796035	p.Pro290Ser	missense variant	-	NC_000010.11:g.70435309G>A	ESP,ExAC,TOPMed,gnomAD
rs757713122	p.Pro290Leu	missense variant	-	NC_000010.11:g.70435308G>A	ExAC,TOPMed,gnomAD
rs1287008085	p.Thr291Ser	missense variant	-	NC_000010.11:g.70435305G>C	TOPMed,gnomAD
rs1368298845	p.Tyr295His	missense variant	-	NC_000010.11:g.70435294A>G	gnomAD
rs756658835	p.Lys301Glu	missense variant	-	NC_000010.11:g.70433079T>C	ExAC,gnomAD
RCV000723605	p.Arg302Cys	missense variant	-	NC_000010.11:g.70433076G>A	ClinVar
rs750214155	p.Arg302His	missense variant	-	NC_000010.11:g.70433075C>T	ExAC,TOPMed,gnomAD
rs150819707	p.Arg302Cys	missense variant	-	NC_000010.11:g.70433076G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1317435	p.Tyr303Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.70433072T>C	NCI-TCGA Cosmic
rs1486992639	p.Pro305His	missense variant	-	NC_000010.11:g.70433066G>T	TOPMed
rs148708629	p.His306Tyr	missense variant	-	NC_000010.11:g.70433064G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs949415691	p.Arg307Gly	missense variant	-	NC_000010.11:g.70433061G>C	TOPMed,gnomAD
rs949415691	p.Arg307Ter	stop gained	-	NC_000010.11:g.70433061G>A	TOPMed,gnomAD
rs766203379	p.Arg307Gln	missense variant	-	NC_000010.11:g.70433060C>T	ExAC,TOPMed,gnomAD
rs1420869789	p.Ser310Cys	missense variant	-	NC_000010.11:g.70433051G>C	gnomAD
rs773193349	p.Thr311Ile	missense variant	-	NC_000010.11:g.70433048G>A	ExAC,gnomAD
rs773193349	p.Thr311Ser	missense variant	-	NC_000010.11:g.70433048G>C	ExAC,gnomAD
NCI-TCGA novel	p.Cys312Arg	missense variant	-	NC_000010.11:g.70433046A>G	NCI-TCGA
rs1465760855	p.Ala314Thr	missense variant	-	NC_000010.11:g.70433040C>T	TOPMed
NCI-TCGA novel	p.Ala314Val	missense variant	-	NC_000010.11:g.70433039G>A	NCI-TCGA
NCI-TCGA novel	p.Pro315Arg	missense variant	-	NC_000010.11:g.70433036G>C	NCI-TCGA
rs761688803	p.Lys319Gln	missense variant	-	NC_000010.11:g.70433025T>G	ExAC,TOPMed,gnomAD
rs147251818	p.Pro320Leu	missense variant	-	NC_000010.11:g.70433021G>A	ESP,ExAC,TOPMed,gnomAD
rs1183423233	p.Pro320Ala	missense variant	-	NC_000010.11:g.70433022G>C	gnomAD
rs746033726	p.Met323Thr	missense variant	-	NC_000010.11:g.70433012A>G	ExAC,gnomAD
rs1217545510	p.Tyr325His	missense variant	-	NC_000010.11:g.70433007A>G	TOPMed,gnomAD
rs113255026	p.Tyr325Ter	stop gained	-	NC_000010.11:g.70433005A>C	TOPMed
rs1234594244	p.Asp327Gly	missense variant	-	NC_000010.11:g.70433000T>C	TOPMed
rs771199897	p.Asp327Asn	missense variant	-	NC_000010.11:g.70433001C>T	ExAC,TOPMed,gnomAD
rs1331335397	p.Asn328Asp	missense variant	-	NC_000010.11:g.70432998T>C	TOPMed,gnomAD
rs749630247	p.Gly329Asp	missense variant	-	NC_000010.11:g.70432994C>T	ExAC,gnomAD
rs1338850636	p.Arg330Ser	missense variant	-	NC_000010.11:g.70432990T>G	TOPMed,gnomAD
rs756600339	p.Leu332Pro	missense variant	-	NC_000010.11:g.70432985A>G	ExAC,gnomAD
rs748622757	p.Asp334Asn	missense variant	-	NC_000010.11:g.70432980C>T	ExAC,gnomAD
rs200946243	p.Asp338His	missense variant	-	NC_000010.11:g.70432968C>G	ExAC,gnomAD
NCI-TCGA novel	p.Met339Ile	missense variant	-	NC_000010.11:g.70432963C>T	NCI-TCGA
rs751176757	p.Val341Met	missense variant	-	NC_000010.11:g.70432959C>T	ExAC,TOPMed,gnomAD
rs1242135129	p.Glu343Ter	stop gained	-	NC_000010.11:g.70432953C>A	TOPMed
rs987421678	p.Leu347Phe	missense variant	-	NC_000010.11:g.70432941G>A	TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0005411	Biliary Atresia	disease	BEFREE
C0010068	Coronary heart disease	disease	BEFREE
C0011813	Dextrocardia	disease	HPO
C0015934	Fetal Growth Retardation	phenotype	HPO
C0018798	Congenital Heart Defects	group	BEFREE
C0018817	Atrial Septal Defects	group	HPO
C0018818	Ventricular Septal Defects	group	HPO
C0021296	Infant, Small for Gestational Age	phenotype	HPO
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025202	melanoma	disease	LHGDN
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0029408	Degenerative polyarthritis	disease	BEFREE
C0036631	Seminoma	disease	BEFREE
C0037221	Situs Inversus	disease	CTD_human;HPO;ORPHANET;UNIPROT
C0078982	Arhinencephaly	disease	CTD_human
C0079541	Holoprosencephaly	disease	BEFREE;CTD_human;GENOMICS_ENGLAND;LHGDN
C0206659	Embryonal Carcinoma	disease	BEFREE
C0242855	Congenital atresia of pulmonary valve	disease	BEFREE
C0266642	Situs ambiguus	disease	BEFREE;ORPHANET
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0431362	Lobar Holoprosencephaly	disease	CTD_human;ORPHANET
C0431363	Alobar Holoprosencephaly	disease	CTD_human;ORPHANET
C0451840	Erosive osteoarthrosis	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0751617	Semilobar Holoprosencephaly	disease	CTD_human;ORPHANET
C1167664	Situs ambiguous	disease	ORPHANET
C1386048	Intrauterine retardation	phenotype	HPO
C1527249	Colorectal Cancer	disease	UNIPROT
C2239176	Liver carcinoma	disease	BEFREE
C3495537	Heterotaxy, Visceral, 5, Autosomal	disease	CLINVAR;CTD_human;UNIPROT
C3536741	Discordant ventriculoarterial connection	disease	HPO
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C4018871	Abnormality of the respiratory system	phenotype	HPO
C4049796	Abnormality of cardiovascular system morphology	disease	BEFREE
C4277690	Ciliopathies	group	GENOMICS_ENGLAND

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005125	cytokine activity	IBA
GO:0008083	growth factor activity	IEA
GO:0016015	morphogen activity	NAS
GO:0070698	type I activin receptor binding	IMP
GO:0070698	type I activin receptor binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA
GO:0001831	trophectodermal cellular morphogenesis	IEA
GO:0001842	neural fold formation	IEA
GO:0001889	liver development	IEA
GO:0001890	placenta development	IMP
GO:0001892	embryonic placenta development	IEA
GO:0001893	maternal placenta development	IEA
GO:0001944	vasculature development	IEA
GO:0001947	heart looping	IEA
GO:0002085	inhibition of neuroepithelial cell differentiation	IEA
GO:0007420	brain development	IEA
GO:0009880	embryonic pattern specification	IEA
GO:0010085	polarity specification of proximal/distal axis	IEA
GO:0010470	regulation of gastrulation	IEA
GO:0010575	positive regulation of vascular endothelial growth factor production	IMP
GO:0010721	negative regulation of cell development	IEA
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IMP
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA
GO:0019827	stem cell population maintenance	IEA
GO:0022409	positive regulation of cell-cell adhesion	IMP
GO:0030509	BMP signaling pathway	IBA
GO:0032927	positive regulation of activin receptor signaling pathway	IGI
GO:0033505	floor plate morphogenesis	IEA
GO:0035987	endodermal cell differentiation	IMP
GO:0042074	cell migration involved in gastrulation	IEA
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA
GO:0045766	positive regulation of angiogenesis	IMP
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA
GO:0048327	axial mesodermal cell fate specification	IEA
GO:0048382	mesendoderm development	IMP
GO:0048546	digestive tract morphogenesis	IEA
GO:0048701	embryonic cranial skeleton morphogenesis	IEA
GO:0048859	formation of anatomical boundary	IEA
GO:0050679	positive regulation of epithelial cell proliferation	IDA
GO:0051091	positive regulation of DNA-binding transcription factor activity	IMP
GO:0060136	embryonic process involved in female pregnancy	IEA
GO:0060137	maternal process involved in parturition	IEA
GO:0060391	positive regulation of SMAD protein signal transduction	IMP
GO:0060395	SMAD protein signal transduction	IBA
GO:0060460	left lung morphogenesis	IEA
GO:0060766	negative regulation of androgen receptor signaling pathway	IDA
GO:0060802	epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification	IEA
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IMP
GO:0090010	transforming growth factor beta receptor signaling pathway involved in primitive streak formation	IEA
GO:1900164	nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry	IEA
GO:1900224	positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry	ISS
GO:1901164	negative regulation of trophoblast cell migration	IDA
GO:1901383	negative regulation of chorionic trophoblast cell proliferation	IDA
GO:2000036	regulation of stem cell population maintenance	TAS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005615	extracellular space	IDA
GO:0005615	extracellular space	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1181150	Signaling by NODAL	IEA
R-HSA-1266738	Developmental Biology	IEA
R-HSA-1433617	Regulation of signaling by NODAL	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane affects the expression of NODAL mRNA	18648102
D000079	Acetaldehyde	Acetaldehyde affects the expression of NODAL mRNA	22634333
D000082	Acetaminophen	Acetaminophen affects the expression of NODAL mRNA	17562736
D019342	Acetic Acid	Acetic Acid affects the expression of NODAL protein	21296659
D000535	Aluminum	[APP protein modified form binds to Aluminum] which results in increased expression of NODAL mRNA	21298039
D001280	Atrazine	Atrazine results in increased expression of NODAL mRNA	22378314
D001564	Benzo(a)pyrene	Benzo(a)pyrene promotes the reaction [AHR protein binds to NODAL promoter]	19654925
C006780	bisphenol A	bisphenol A results in increased expression of NODAL mRNA	18007998
C006780	bisphenol A	bisphenol A results in decreased expression of NODAL mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of NODAL mRNA	29323181
C099813	bromochloroacetic acid	bromochloroacetic acid affects the expression of NODAL protein	21296659
D016190	Carboplatin	NODAL results in increased susceptibility to Carboplatin	21224400
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of NODAL gene	20938992
D002945	Cisplatin	Cisplatin results in increased expression of NODAL mRNA	21224400
D002945	Cisplatin	NODAL results in increased susceptibility to Cisplatin	21224400
D000077209	Decitabine	Decitabine results in increased expression of NODAL mRNA	27915011
D000431	Ethanol	Ethanol results in increased expression of NODAL mRNA	23378141
D000431	Ethanol	Ethanol results in increased expression of NODAL mRNA	30319688
D005472	Fluorouracil	Fluorouracil results in decreased expression of NODAL protein	21296659
D005473	Fluoxetine	Fluoxetine affects the expression of NODAL mRNA	29893963
C061365	flusilazole	flusilazole affects the expression of NODAL mRNA	22634333
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of NODAL gene	20938992
D018021	Lithium Chloride	Lithium Chloride results in increased expression of NODAL mRNA	17506889
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of NODAL gene	20938992
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of NODAL mRNA	22555245; 23903816;
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of NODAL mRNA	22555245
C091888	monoisoamyl-2,3-dimercaptosuccinate	[sodium arsenite co-treated with monoisoamyl-2,3-dimercaptosuccinate] results in decreased expression of NODAL mRNA	19615344
C511794	N'-(3,4-dihydroxybenzylidene)-3-hydroxy-2-naphthahydrazide	N'-(3,4-dihydroxybenzylidene)-3-hydroxy-2-naphthahydrazide affects the localization of NODAL	21337468
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of NODAL mRNA	25620056
C022838	nickel chloride	nickel chloride affects the localization of NODAL	21337468
D010656	Phenylephrine	Phenylephrine affects the expression of NODAL mRNA	11029149
D010656	Phenylephrine	Phenylephrine affects the expression of NODAL protein	11029149
D010936	Plant Extracts	Plant Extracts results in decreased expression of NODAL mRNA	23557933
D011192	Potassium Dichromate	Potassium Dichromate results in decreased expression of NODAL mRNA	23608068
D011374	Progesterone	Progesterone results in decreased expression of NODAL mRNA	21770760
C017947	sodium arsenite	[sodium arsenite co-treated with monoisoamyl-2,3-dimercaptosuccinate] results in decreased expression of NODAL mRNA	19615344
C017947	sodium arsenite	sodium arsenite results in decreased expression of NODAL mRNA	19615344
D013739	Testosterone	Testosterone results in decreased expression of NODAL mRNA	22138414
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of NODAL mRNA	21354282
C009495	titanium dioxide	titanium dioxide results in increased expression of NODAL mRNA	23557971
D014118	Toxins, Biological	Toxins, Biological affects the expression of NODAL mRNA	19682533
C011559	tributyltin	tributyltin results in increased expression of NODAL mRNA	27614199
D014635	Valproic Acid	Valproic Acid affects the expression of NODAL mRNA	25979313; 26072468;
D014635	Valproic Acid	Valproic Acid affects the expression of NODAL mRNA	26072468
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of NODAL gene	25560391
C016837	zinc chloride	zinc chloride affects the localization of NODAL	21337468
D019287	Zinc Sulfate	Zinc Sulfate results in increased expression of NODAL mRNA	17506889

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0165	Cleavage on pair of basic residues
KW-0202	Cytokine
KW-0217	Developmental protein
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0339	Growth factor
KW-1056	Heterotaxy
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0964	Secreted
KW-0732	Signal

Interpro

InterPro ID	InterPro Term
IPR029034	Cystine-knot_cytokine
IPR001839	TGF-b_C
IPR015615	TGF-beta-rel
IPR017948	TGFb_CS

PROSITE

PROSITE ID	PROSITE Term
PS00250	TGF_BETA_1
PS51362	TGF_BETA_2

Pfam

Pfam ID	Pfam Term
PF00019	TGF_beta

Gene: NODAL

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction