CleftGeneDB-Search

Gene: PRRX1

Basic information

Tag	Content
Uniprot ID	P54821; B5BUM7; O60807;
Entrez ID	5396
Genbank protein ID	AAH74993.1; BAG70277.1; AAA60085.1;
Genbank nucleotide ID	NM_006902.4; NM_022716.3;
Ensembl protein ID	ENSP00000356734; ENSP00000239461;
Ensembl nucleotide ID	ENSG00000116132
Gene name	Paired mesoderm homeobox protein 1
Gene symbol	PRRX1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Acts as a transcriptional regulator of muscle creatine kinase (MCK) and so has a role in the establishment of diverse mesodermal muscle types. The protein binds to an A/T-rich element in the muscle creatine enhancer (By similarity).
Sequence	MTSSYGHVLE RQPALGGRLD SPGNLDTLQA KKNFSVSHLL DLEEAGDMVA AQADENVGEA 60 GRSLLESPGL TSGSDTPQQD NDQLNSEEKK KRKQRRNRTT FNSSQLQALE RVFERTHYPD 120 AFVREDLARR VNLTEARVQV WFQNRRAKFR RNERAMLANK NASLLKSYSG DVTAVEQPIV 180 PRPAPRPTDY LSWGTASPYS AMATYSATCA NNSPAQGINM ANSIANLRLK AKEYSLQRNQ 240 VPTVN 245

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	PRRX1	540901	A2VE85			Bos taurus	Prediction	More>>
1:1 ortholog	PRRX1	609105	A0A5F4C613			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	PRRX1	102190342	A0A452E2W3			Capra hircus	Prediction	More>>
1:1 ortholog	PRRX1		F6WAC4			Equus caballus	Prediction	More>>
1:1 ortholog	PRRX1	5396	P54821			Homo sapiens	Prediction	More>>
1:1 ortholog	Prrx1	18933	P63013	CPO	E14.5, E16.5	Mus musculus	Publication	More>>
1:1 ortholog	PRRX1	736677	H2Q0L1			Pan troglodytes	Prediction	More>>
1:1 ortholog	PRRX1		A0A287A1I3			Sus scrofa	Prediction	More>>
1:1 ortholog	PRRX1		G1T2Y3			Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Prrx1	266813	P63014			Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs980757253	p.Ser4Arg	missense variant	-	NC_000001.11:g.170664230C>G	TOPMed,gnomAD
rs938234243	p.Ser4Thr	missense variant	-	NC_000001.11:g.170664229G>C	TOPMed,gnomAD
rs1476502323	p.Tyr5Ser	missense variant	-	NC_000001.11:g.170664232A>C	gnomAD
rs1476502323	p.Tyr5Cys	missense variant	-	NC_000001.11:g.170664232A>G	gnomAD
rs748513691	p.Gly6Arg	missense variant	-	NC_000001.11:g.170664234G>C	ExAC,gnomAD
rs748513691	p.Gly6Arg	missense variant	-	NC_000001.11:g.170664234G>A	ExAC,gnomAD
rs1417001664	p.His7Asn	missense variant	-	NC_000001.11:g.170664237C>A	TOPMed
rs1462039714	p.His7Gln	missense variant	-	NC_000001.11:g.170664239C>A	gnomAD
rs772523348	p.Val8Ile	missense variant	-	NC_000001.11:g.170664240G>A	ExAC,gnomAD
rs1296706757	p.Arg11Gln	missense variant	-	NC_000001.11:g.170664250G>A	gnomAD
rs1296706757	p.Arg11Leu	missense variant	-	NC_000001.11:g.170664250G>T	gnomAD
rs778274576	p.Arg11Gly	missense variant	-	NC_000001.11:g.170664249C>G	ExAC,TOPMed,gnomAD
rs778274576	p.Arg11Trp	missense variant	-	NC_000001.11:g.170664249C>T	ExAC,TOPMed,gnomAD
rs200885791	p.Pro13Arg	missense variant	-	NC_000001.11:g.170664256C>G	ESP,ExAC,TOPMed,gnomAD
rs200885791	p.Pro13Leu	missense variant	-	NC_000001.11:g.170664256C>T	ESP,ExAC,TOPMed,gnomAD
rs775130367	p.Pro13Ser	missense variant	-	NC_000001.11:g.170664255C>T	ExAC,gnomAD
rs768368980	p.Ala14Thr	missense variant	-	NC_000001.11:g.170664258G>A	ExAC,gnomAD
rs1464363985	p.Ala14Val	missense variant	-	NC_000001.11:g.170664259C>T	gnomAD
rs1440483766	p.Leu15Arg	missense variant	-	NC_000001.11:g.170664262T>G	gnomAD
rs761732223	p.Gly16Ser	missense variant	-	NC_000001.11:g.170664264G>A	ExAC,gnomAD
rs370044964	p.Gly17Ser	missense variant	-	NC_000001.11:g.170664267G>A	ESP,ExAC,TOPMed,gnomAD
rs1409882371	p.Arg18His	missense variant	-	NC_000001.11:g.170664271G>A	gnomAD
rs1409882371	p.Arg18Leu	missense variant	-	NC_000001.11:g.170664271G>T	gnomAD
rs1453606467	p.Ser21Asn	missense variant	-	NC_000001.11:g.170664280G>A	gnomAD
rs1319221832	p.Gly23Val	missense variant	-	NC_000001.11:g.170664286G>T	TOPMed
rs750366855	p.Asn24His	missense variant	-	NC_000001.11:g.170664288A>C	ExAC,gnomAD
rs1355740920	p.Thr27Ile	missense variant	-	NC_000001.11:g.170664298C>T	gnomAD
rs1213848347	p.Ala30Glu	missense variant	-	NC_000001.11:g.170664307C>A	gnomAD
rs1315825158	p.Lys31Ile	missense variant	-	NC_000001.11:g.170664310A>T	gnomAD
rs1262486932	p.Lys32Asn	missense variant	-	NC_000001.11:g.170664314G>T	gnomAD
rs766353805	p.Asn33Lys	missense variant	-	NC_000001.11:g.170664317C>A	ExAC,gnomAD
rs766353805	p.Asn33Lys	missense variant	-	NC_000001.11:g.170664317C>G	ExAC,gnomAD
rs373448980	p.Ser35Cys	missense variant	-	NC_000001.11:g.170664322C>G	ESP,ExAC,TOPMed,gnomAD
rs373448980	p.Ser35Phe	missense variant	-	NC_000001.11:g.170664322C>T	ESP,ExAC,TOPMed,gnomAD
COSM4912091	p.Val36Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170664324G>T	NCI-TCGA Cosmic
rs1486095295	p.Ser37Gly	missense variant	-	NC_000001.11:g.170664327A>G	gnomAD
rs1160454259	p.Glu43Gly	missense variant	-	NC_000001.11:g.170664346A>G	gnomAD
rs753011444	p.Glu43Lys	missense variant	-	NC_000001.11:g.170664345G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu44Gly	missense variant	-	NC_000001.11:g.170664349A>G	NCI-TCGA
rs1464830991	p.Asp47Asn	missense variant	-	NC_000001.11:g.170664357G>A	gnomAD
rs945516523	p.Met48Leu	missense variant	-	NC_000001.11:g.170664360A>C	gnomAD
rs1376467098	p.Met48Ile	missense variant	-	NC_000001.11:g.170664362G>A	gnomAD
rs758738720	p.Met48Lys	missense variant	-	NC_000001.11:g.170664361T>A	ExAC,gnomAD
rs1441023849	p.Val49Gly	missense variant	-	NC_000001.11:g.170664364T>G	TOPMed
rs1371971212	p.Ala51Val	missense variant	-	NC_000001.11:g.170664370C>T	gnomAD
rs1305797582	p.Ala51Thr	missense variant	-	NC_000001.11:g.170664369G>A	TOPMed,gnomAD
rs1305797582	p.Ala51Ser	missense variant	-	NC_000001.11:g.170664369G>T	TOPMed,gnomAD
rs1309024586	p.Ala53Thr	missense variant	-	NC_000001.11:g.170664375G>A	gnomAD
NCI-TCGA novel	p.Asp54His	missense variant	-	NC_000001.11:g.170664378G>C	NCI-TCGA
rs1465629020	p.Glu55Lys	missense variant	-	NC_000001.11:g.170664381G>A	TOPMed
rs370202431	p.Asn56Lys	missense variant	-	NC_000001.11:g.170664386C>A	ESP,ExAC,TOPMed,gnomAD
rs748836293	p.Val57Met	missense variant	-	NC_000001.11:g.170664387G>A	ExAC,TOPMed,gnomAD
rs748836293	p.Val57Leu	missense variant	-	NC_000001.11:g.170664387G>C	ExAC,TOPMed,gnomAD
rs1406921492	p.Gly58Ser	missense variant	-	NC_000001.11:g.170664390G>A	TOPMed
rs1213289345	p.Glu59Lys	missense variant	-	NC_000001.11:g.170664393G>A	gnomAD
rs932931451	p.Gly61Ala	missense variant	-	NC_000001.11:g.170664400G>C	TOPMed,gnomAD
rs74674242	p.Arg62Gln	missense variant	-	NC_000001.11:g.170664403G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs570603113	p.Arg62Trp	missense variant	-	NC_000001.11:g.170664402C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs547151958	p.Ser63Asn	missense variant	-	NC_000001.11:g.170664406G>A	1000Genomes,ExAC,gnomAD
rs1458232191	p.Leu64Pro	missense variant	-	NC_000001.11:g.170664409T>C	TOPMed
rs753817917	p.Ser67Leu	missense variant	-	NC_000001.11:g.170664418C>T	ExAC
rs1353607741	p.Pro68Gln	missense variant	-	NC_000001.11:g.170664421C>A	gnomAD
rs201153811	p.Gly69Glu	missense variant	-	NC_000001.11:g.170664424G>A	1000Genomes,ExAC,gnomAD
rs1439996918	p.Thr71Ile	missense variant	-	NC_000001.11:g.170664430C>T	gnomAD
rs1054346061	p.Ser74Asn	missense variant	-	NC_000001.11:g.170664439G>A	TOPMed
rs1372893101	p.Thr76Ser	missense variant	-	NC_000001.11:g.170664445C>G	gnomAD
rs1372893101	p.Thr76Asn	missense variant	-	NC_000001.11:g.170664445C>A	gnomAD
rs575268204	p.Gln78Glu	missense variant	-	NC_000001.11:g.170664450C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs575268204	p.Gln78Lys	missense variant	-	NC_000001.11:g.170664450C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs970789095	p.Gln78Arg	missense variant	-	NC_000001.11:g.170664451A>G	TOPMed
rs200693185	p.Gln79His	missense variant	-	NC_000001.11:g.170664455G>C	1000Genomes,ExAC,gnomAD
rs1323852736	p.Asp80Asn	missense variant	-	NC_000001.11:g.170664456G>A	TOPMed
NCI-TCGA novel	p.Asp82Glu	missense variant	-	NC_000001.11:g.170719730C>G	NCI-TCGA
COSM4837885	p.Ser86Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170719741C>T	NCI-TCGA Cosmic
rs944046701	p.Glu88Gly	missense variant	-	NC_000001.11:g.170719747A>G	TOPMed,gnomAD
RCV000043529	p.Lys90Ter	frameshift	Dysgnathia complex (AGOTC)	NC_000001.11:g.170719753del	ClinVar
rs1218432646	p.Lys90Asn	missense variant	-	NC_000001.11:g.170719754G>T	TOPMed,gnomAD
rs79567938	p.Lys90Arg	missense variant	-	NC_000001.11:g.170719753A>G	ESP
RCV000043530	p.Arg92Ter	frameshift	Dysgnathia complex (AGOTC)	NC_000001.11:g.170719750_170719753dup	ClinVar
rs147354859	p.Arg92Ile	missense variant	-	NC_000001.11:g.170719759G>T	ESP,ExAC
rs374406599	p.Lys93Asn	missense variant	-	NC_000001.11:g.170719763G>T	ESP,TOPMed
COSM1583734	p.Gln94Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.170719764C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg95Leu	missense variant	-	NC_000001.11:g.170719768G>T	NCI-TCGA
NCI-TCGA novel	p.Arg95Ter	stop gained	-	NC_000001.11:g.170719767C>T	NCI-TCGA
rs1485111813	p.Arg95Gln	missense variant	-	NC_000001.11:g.170719768G>A	TOPMed,gnomAD
rs1172618535	p.Arg96Met	missense variant	-	NC_000001.11:g.170719771G>T	TOPMed
rs1157912949	p.Asn102Ser	missense variant	-	NC_000001.11:g.170719789A>G	gnomAD
rs75715275	p.Ser104Gly	missense variant	-	NC_000001.11:g.170719794A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs536563046	p.Gln105His	missense variant	-	NC_000001.11:g.170719799G>C	TOPMed
rs1414329830	p.Ala108Val	missense variant	-	NC_000001.11:g.170719807C>T	TOPMed,gnomAD
rs761985508	p.Arg111Cys	missense variant	-	NC_000001.11:g.170719815C>T	ExAC,TOPMed,gnomAD
rs767923329	p.Arg111His	missense variant	-	NC_000001.11:g.170719816G>A	ExAC,TOPMed,gnomAD
rs387906667	p.Phe113Ser	missense variant	Agnathia-otocephaly complex (AGOTC)	NC_000001.11:g.170719822T>C	UniProt,dbSNP
VAR_066414	p.Phe113Ser	missense variant	Agnathia-otocephaly complex (AGOTC)	NC_000001.11:g.170719822T>C	UniProt
rs387906667	p.Phe113Ser	missense variant	-	NC_000001.11:g.170719822T>C	-
RCV000022701	p.Phe113Ser	missense variant	Dysgnathia complex (AGOTC)	NC_000001.11:g.170719822T>C	ClinVar
NCI-TCGA novel	p.Glu114Gln	missense variant	-	NC_000001.11:g.170719824G>C	NCI-TCGA
COSM1295466	p.Glu114Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170719824G>A	NCI-TCGA Cosmic
rs756620309	p.Arg115Trp	missense variant	-	NC_000001.11:g.170719827C>T	ExAC,TOPMed,gnomAD
rs1400715118	p.Arg115Gln	missense variant	-	NC_000001.11:g.170719828G>A	gnomAD
rs752202563	p.His117Gln	missense variant	-	NC_000001.11:g.170719835C>A	ExAC,gnomAD
NCI-TCGA novel	p.His117Tyr	missense variant	-	NC_000001.11:g.170719833C>T	NCI-TCGA
NCI-TCGA novel	p.Pro119Arg	missense variant	-	NC_000001.11:g.170719840C>G	NCI-TCGA
rs931929789	p.Ala121Gly	missense variant	-	NC_000001.11:g.170719846C>G	TOPMed
COSM1583733	p.Ala121Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170719846C>A	NCI-TCGA Cosmic
rs1282088171	p.Val123Ala	missense variant	-	NC_000001.11:g.170719852T>C	TOPMed,gnomAD
rs1435541934	p.Arg124Ter	stop gained	-	NC_000001.11:g.170719854C>T	gnomAD
NCI-TCGA novel	p.Glu125LysPheSerTerUnk	frameshift	-	NC_000001.11:g.170719856A>-	NCI-TCGA
NCI-TCGA novel	p.Leu127Ile	missense variant	-	NC_000001.11:g.170719863C>A	NCI-TCGA
COSM1146036	p.Leu127Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170719863C>G	NCI-TCGA Cosmic
rs780981143	p.Arg129His	missense variant	-	NC_000001.11:g.170719870G>A	ExAC,TOPMed,gnomAD
rs756917059	p.Arg129Cys	missense variant	-	NC_000001.11:g.170719869C>T	ExAC,TOPMed,gnomAD
rs780981143	p.Arg129Leu	missense variant	-	NC_000001.11:g.170719870G>T	ExAC,TOPMed,gnomAD
rs756917059	p.Arg129Gly	missense variant	-	NC_000001.11:g.170719869C>G	ExAC,TOPMed,gnomAD
rs747075971	p.Arg130Gln	missense variant	-	NC_000001.11:g.170719873G>A	ExAC,TOPMed,gnomAD
rs1471089409	p.Arg130Gly	missense variant	-	NC_000001.11:g.170719872C>G	gnomAD
rs774365443	p.Glu135Ala	missense variant	-	NC_000001.11:g.170719888A>C	ExAC,gnomAD
rs1336441834	p.Val138Gly	missense variant	-	NC_000001.11:g.170719897T>G	gnomAD
COSM1134763	p.Phe142Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170726226T>C	NCI-TCGA Cosmic
COSM4835040	p.Gln143Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.170726229C>T	NCI-TCGA Cosmic
COSM6122786	p.Asn144Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170726234C>A	NCI-TCGA Cosmic
rs1270473736	p.Arg145Gln	missense variant	-	NC_000001.11:g.170726236G>A	gnomAD
rs1340836613	p.Ala147Thr	missense variant	-	NC_000001.11:g.170726241G>A	gnomAD
rs1272026144	p.Lys148Thr	missense variant	-	NC_000001.11:g.170726245A>C	gnomAD
NCI-TCGA novel	p.Lys148Arg	missense variant	-	NC_000001.11:g.170726245A>G	NCI-TCGA
rs1468821005	p.Phe149Leu	missense variant	-	NC_000001.11:g.170726247T>C	gnomAD
rs1191024290	p.Arg150Cys	missense variant	-	NC_000001.11:g.170726250C>T	TOPMed
COSM6059636	p.Glu153Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170726259G>C	NCI-TCGA Cosmic
rs773280049	p.Ala155Thr	missense variant	-	NC_000001.11:g.170726265G>A	ExAC,gnomAD
rs147184063	p.Met156Val	missense variant	-	NC_000001.11:g.170726268A>G	ESP,ExAC,TOPMed
rs771417715	p.Met156Thr	missense variant	-	NC_000001.11:g.170726269T>C	ExAC,gnomAD
rs147184063	p.Met156Leu	missense variant	-	NC_000001.11:g.170726268A>T	ESP,ExAC,TOPMed
rs777193663	p.Met156Ile	missense variant	-	NC_000001.11:g.170726270G>T	ExAC,TOPMed,gnomAD
rs777193663	p.Met156Ile	missense variant	-	NC_000001.11:g.170726270G>A	ExAC,TOPMed,gnomAD
COSM284305	p.Leu157Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170726271C>A	NCI-TCGA Cosmic
rs149731143	p.Ala158Thr	missense variant	-	NC_000001.11:g.170726274G>A	ESP,TOPMed,gnomAD
rs751042611	p.Asn161Lys	missense variant	-	NC_000001.11:g.170726285C>A	ExAC,gnomAD
rs761253714	p.Ala162Thr	missense variant	-	NC_000001.11:g.170726286G>A	ExAC,gnomAD
rs761253714	p.Ala162Pro	missense variant	-	NC_000001.11:g.170726286G>C	ExAC,gnomAD
rs1352996112	p.Ala162Val	missense variant	-	NC_000001.11:g.170726287C>T	TOPMed
COSM3478166	p.Ser163Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170726290C>T	NCI-TCGA Cosmic
rs767104891	p.Leu164Ile	missense variant	-	NC_000001.11:g.170726292C>A	ExAC,gnomAD
rs1241390485	p.Leu165Ile	missense variant	-	NC_000001.11:g.170726295C>A	TOPMed
rs755834640	p.Leu165His	missense variant	-	NC_000001.11:g.170726296T>A	ExAC,TOPMed,gnomAD
rs753649456	p.Ser167Cys	missense variant	-	NC_000001.11:g.170726302C>G	ExAC,gnomAD
rs1341946248	p.Ser167Thr	missense variant	-	NC_000001.11:g.170726301T>A	gnomAD
NCI-TCGA novel	p.Ser167Phe	missense variant	-	NC_000001.11:g.170726302C>T	NCI-TCGA
rs201661471	p.Tyr168Ser	missense variant	-	NC_000001.11:g.170726305A>C	TOPMed
NCI-TCGA novel	p.Gly170Ala	missense variant	-	NC_000001.11:g.170726311G>C	NCI-TCGA
rs1292072443	p.Gly170Arg	missense variant	-	NC_000001.11:g.170726310G>A	gnomAD
rs374262561	p.Asp171Glu	missense variant	-	NC_000001.11:g.170726315C>G	ESP,ExAC,TOPMed,gnomAD
rs1246892874	p.Val172Met	missense variant	-	NC_000001.11:g.170726316G>A	gnomAD
COSM1146037	p.Val172Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170726316G>T	NCI-TCGA Cosmic
rs748163693	p.Ala174Thr	missense variant	-	NC_000001.11:g.170726322G>A	ExAC,gnomAD
rs201365132	p.Val175Leu	missense variant	-	NC_000001.11:g.170726325G>T	ESP,ExAC,TOPMed,gnomAD
rs201365132	p.Val175Met	missense variant	-	NC_000001.11:g.170726325G>A	ESP,ExAC,TOPMed,gnomAD
rs747220791	p.Glu176Gln	missense variant	-	NC_000001.11:g.170726328G>C	ExAC,gnomAD
rs747220791	p.Glu176Lys	missense variant	-	NC_000001.11:g.170726328G>A	ExAC,gnomAD
COSM1583731	p.Glu176Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170726330G>T	NCI-TCGA Cosmic
rs771291245	p.Gln177Glu	missense variant	-	NC_000001.11:g.170726331C>G	ExAC,TOPMed,gnomAD
rs1475611608	p.Pro178Leu	missense variant	-	NC_000001.11:g.170726335C>T	gnomAD
rs1167505948	p.Ile179Val	missense variant	-	NC_000001.11:g.170726337A>G	TOPMed,gnomAD
COSM4025023	p.Val180Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170726341T>C	NCI-TCGA Cosmic
COSM1336163	p.Val180Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170726340G>A	NCI-TCGA Cosmic
rs746264594	p.Arg182Pro	missense variant	-	NC_000001.11:g.170726347G>C	ExAC,TOPMed,gnomAD
rs746264594	p.Arg182His	missense variant	-	NC_000001.11:g.170726347G>A	ExAC,TOPMed,gnomAD
rs1453716808	p.Arg182Cys	missense variant	-	NC_000001.11:g.170726346C>T	gnomAD
COSM6059632	p.Pro183His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170726350C>A	NCI-TCGA Cosmic
rs770288919	p.Pro185Leu	missense variant	-	NC_000001.11:g.170726356C>T	ExAC,TOPMed,gnomAD
rs770288919	p.Pro185Gln	missense variant	-	NC_000001.11:g.170726356C>A	ExAC,TOPMed,gnomAD
rs1397318312	p.Pro187Leu	missense variant	-	NC_000001.11:g.170726362C>T	gnomAD
rs766933694	p.Pro187Ser	missense variant	-	NC_000001.11:g.170726361C>T	ExAC,TOPMed,gnomAD
rs766933694	p.Pro187Ala	missense variant	-	NC_000001.11:g.170726361C>G	ExAC,TOPMed,gnomAD
rs766933694	p.Pro187Thr	missense variant	-	NC_000001.11:g.170726361C>A	ExAC,TOPMed,gnomAD
rs372098442	p.Asp189Asn	missense variant	-	NC_000001.11:g.170726367G>A	ESP,ExAC,TOPMed,gnomAD
COSM4893985	p.Leu191Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170726373C>T	NCI-TCGA Cosmic
rs1171806058	p.Ser192Cys	missense variant	-	NC_000001.11:g.170726377C>G	gnomAD
COSM1472972	p.Trp193Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.170726381G>A	NCI-TCGA Cosmic
rs760267315	p.Gly194Arg	missense variant	-	NC_000001.11:g.170726382G>C	ExAC,TOPMed,gnomAD
rs766027745	p.Gly194Glu	missense variant	-	NC_000001.11:g.170726383G>A	ExAC,gnomAD
rs1423298383	p.Thr195Arg	missense variant	-	NC_000001.11:g.170726386C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Thr195Lys	missense variant	-	NC_000001.11:g.170726386C>A	NCI-TCGA
rs765116280	p.Ala196Gly	missense variant	-	NC_000001.11:g.170726389C>G	ExAC,gnomAD
rs765116280	p.Ala196Glu	missense variant	-	NC_000001.11:g.170726389C>A	ExAC,gnomAD
COSM1133889	p.Ala196Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170726389C>T	NCI-TCGA Cosmic
rs1483603880	p.Ser197Phe	missense variant	-	NC_000001.11:g.170726392C>T	gnomAD
NCI-TCGA novel	p.Pro198Arg	missense variant	-	NC_000001.11:g.170726395C>G	NCI-TCGA
rs1464419142	p.Pro198Leu	missense variant	-	NC_000001.11:g.170726395C>T	TOPMed,gnomAD
rs151333816	p.Ser200Arg	missense variant	-	NC_000001.11:g.170736048C>A	ESP,ExAC,TOPMed,gnomAD
rs755301434	p.Ala201Thr	missense variant	-	NC_000001.11:g.170736049G>A	ExAC,TOPMed,gnomAD
rs1182355391	p.Met202Thr	missense variant	-	NC_000001.11:g.170736053T>C	gnomAD
rs368848007	p.Tyr205Cys	missense variant	-	NC_000001.11:g.170736062A>G	ESP,TOPMed,gnomAD
rs748638512	p.Ser206Pro	missense variant	-	NC_000001.11:g.170736064T>C	ExAC,gnomAD
rs1360944632	p.Ala207Val	missense variant	-	NC_000001.11:g.170736068C>T	gnomAD
rs1353625176	p.Ala210Thr	missense variant	-	NC_000001.11:g.170736076G>A	gnomAD
rs373373102	p.Asn212His	missense variant	-	NC_000001.11:g.170736082A>C	ESP,ExAC,TOPMed,gnomAD
rs775185451	p.Asn212Ser	missense variant	-	NC_000001.11:g.170736083A>G	ExAC,gnomAD
rs531624636	p.Ser213Arg	missense variant	-	NC_000001.11:g.170736087C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs762735513	p.Ser213Gly	missense variant	-	NC_000001.11:g.170736085A>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro214His	missense variant	-	NC_000001.11:g.170736089C>A	NCI-TCGA
rs140550541	p.Pro214Ser	missense variant	-	NC_000001.11:g.170736088C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala215Val	missense variant	-	NC_000001.11:g.170736092C>T	NCI-TCGA
rs1374699350	p.Gln216Pro	missense variant	-	NC_000001.11:g.170736095A>C	TOPMed
rs761785582	p.Gly217Val	missense variant	-	NC_000001.11:g.170736098G>T	ExAC,TOPMed,gnomAD
rs761785582	p.Gly217Asp	missense variant	-	NC_000001.11:g.170736098G>A	ExAC,TOPMed,gnomAD
rs1460822653	p.Ile218Thr	missense variant	-	NC_000001.11:g.170736101T>C	TOPMed
rs1297444584	p.Asn219Asp	missense variant	-	NC_000001.11:g.170736103A>G	TOPMed,gnomAD
rs760835136	p.Met220Arg	missense variant	-	NC_000001.11:g.170736107T>G	ExAC,gnomAD
rs766421515	p.Ala221Thr	missense variant	-	NC_000001.11:g.170736109G>A	ExAC,TOPMed,gnomAD
rs766421515	p.Ala221Ser	missense variant	-	NC_000001.11:g.170736109G>T	ExAC,TOPMed,gnomAD
rs754082400	p.Ser223Asn	missense variant	-	NC_000001.11:g.170736116G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala225Pro	missense variant	-	NC_000001.11:g.170736121G>C	NCI-TCGA
rs1338416766	p.Asn226Asp	missense variant	-	NC_000001.11:g.170736124A>G	gnomAD
NCI-TCGA novel	p.Leu227Gln	missense variant	-	NC_000001.11:g.170736128T>A	NCI-TCGA
rs1176551020	p.Lys230Asn	missense variant	-	NC_000001.11:g.170736138G>T	gnomAD
rs755246526	p.Glu233Lys	missense variant	-	NC_000001.11:g.170736145G>A	ExAC
rs765524769	p.Tyr234Cys	missense variant	-	NC_000001.11:g.170736149A>G	ExAC,TOPMed,gnomAD
rs1160655825	p.Gln237Ter	stop gained	-	NC_000001.11:g.170736157C>T	gnomAD
rs758861054	p.Arg238Met	missense variant	-	NC_000001.11:g.170736161G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln240His	missense variant	-	NC_000001.11:g.170736168G>T	NCI-TCGA
rs1334855472	p.Val241Leu	missense variant	-	NC_000001.11:g.170736169G>T	gnomAD
rs201359953	p.Pro242Ser	missense variant	-	NC_000001.11:g.170736172C>T	ESP,ExAC,TOPMed,gnomAD
rs1341271119	p.Thr243Arg	missense variant	-	NC_000001.11:g.170736176C>G	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002395	Alzheimer's Disease	disease	BEFREE
C0004238	Atrial Fibrillation	disease	BEFREE;CTD_human;GWASCAT
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0010278	Craniosynostosis	disease	BEFREE;GENOMICS_ENGLAND
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	GWASCAT
C0013080	Down Syndrome	disease	BEFREE
C0013404	Dyspnea	phenotype	HPO
C0014859	Esophageal Neoplasms	group	BEFREE
C0015397	Disorder of eye	group	HPO
C0017638	Glioma	disease	BEFREE
C0018777	Conductive hearing loss	disease	HPO
C0020224	Polyhydramnios	phenotype	HPO
C0023418	leukemia	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0023470	Myeloid Leukemia	disease	BEFREE
C0023473	Myeloid Leukemia, Chronic	disease	BEFREE
C0023890	Liver Cirrhosis	disease	LHGDN
C0025202	melanoma	disease	BEFREE
C0025988	Microglossia	disease	HPO
C0025990	Micrognathism	disease	HPO
C0026034	Microstomia	disease	HPO
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0028754	Obesity	disease	BEFREE
C0033578	Prostatic Neoplasms	group	CTD_human
C0035353	Congenital retrognathism	disease	CTD_human
C0037221	Situs Inversus	disease	HPO
C0079541	Holoprosencephaly	disease	HPO
C0152018	Esophageal carcinoma	disease	BEFREE
C0158663	Tongue absent	disease	HPO
C0175754	Agenesis of corpus callosum	disease	HPO
C0178874	Tumor Progression	phenotype	BEFREE
C0235480	Paroxysmal atrial fibrillation	disease	CTD_human
C0235974	Pancreatic carcinoma	disease	BEFREE
C0236642	Pick Disease of the Brain	disease	BEFREE
C0239337	Deformity of limb	group	BEFREE
C0239946	Fibrosis, Liver	disease	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0265242	Otocephaly	disease	ORPHANET;UNIPROT
C0266435	Congenital hypoplasia of penis	disease	HPO
C0266642	Situs ambiguus	disease	HPO
C0266667	Cyclocephaly	disease	HPO
C0266677	Synotus	disease	HPO
C0278504	Non-small cell lung cancer stage I	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	CTD_human
C0423110	Downward slant of palpebral fissure	phenotype	HPO
C0431527	Laryngeal hypoplasia	disease	HPO
C0476273	Respiratory distress	phenotype	HPO
C0546837	Malignant neoplasm of esophagus	disease	BEFREE
C0562350	Hip circumference	phenotype	GWASCAT
C0578022	Finding of body mass index	phenotype	GWASCAT
C0596263	Carcinogenesis	phenotype	BEFREE
C0598766	Leukemogenesis	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0685684	Congenital hypoplasia of nose	disease	HPO
C0685775	Congenital absence of jaw	disease	BEFREE;HPO
C0685776	Congenital absence of mandible	disease	HPO
C0746102	Chronic lung disease	group	BEFREE
C0948187	Tracheomalacia	disease	HPO
C1305855	Body mass index	phenotype	GWASCAT
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1335302	Pancreatic Ductal Adenocarcinoma	disease	BEFREE
C1396772	Hypoplasia of the epiglottis	disease	HPO
C1402315	Vascular lesions	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1848765	Sparse/absent eyebrows	phenotype	HPO
C1854510	Abnormality of the cranial nerves	group	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1857486	Low-set, posteriorly rotated ears	phenotype	HPO
C1876185	Dysgnathia complex	disease	BEFREE;CLINVAR;CTD_human;ORPHANET;UNIPROT
C2239176	Liver carcinoma	disease	BEFREE
C2266639	Absence of eyebrow	phenotype	HPO
C2585653	Persistent atrial fibrillation	phenotype	CTD_human
C2981150	Uranostaphyloschisis	disease	HPO
C3279222	Aplasia/Hypoplasia of the cerebellum	phenotype	HPO
C3468561	familial atrial fibrillation	phenotype	CTD_human
C3494422	Retrognathia	phenotype	BEFREE;CTD_human
C3494423	Maxillary Retroposition	phenotype	CTD_human
C3494424	Maxillary Retrusion	phenotype	CTD_human
C3494425	Mandibular Retroposition	phenotype	CTD_human
C3494426	Mandibular Retrusion	phenotype	CTD_human
C3539878	Triple Negative Breast Neoplasms	disease	BEFREE
C3551430	Sparse or absent eyebrows	phenotype	HPO
C4020707	Aplasia/Hypoplasia of the nares	phenotype	HPO
C4020872	Cranial nerve abnormality	phenotype	HPO
C4020963	Absent nares	phenotype	HPO
C4021371	Absent mandible	phenotype	HPO
C4021956	Aplasia/Hypoplasia of the eyebrow	phenotype	HPO
C4023383	Narrow internal auditory canal	phenotype	HPO
C4024159	Aplasia/Hypoplasia involving the nose	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4280392	Hypotrophic nose	phenotype	HPO
C4316870	Abnormality of the eye	phenotype	HPO
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0003713	transcription coactivator activity	IEA
GO:0071837	HMG box domain binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA
GO:0002053	positive regulation of mesenchymal cell proliferation	IEA
GO:0030326	embryonic limb morphogenesis	IEA
GO:0042472	inner ear morphogenesis	IEA
GO:0042474	middle ear morphogenesis	IEA
GO:0045880	positive regulation of smoothened signaling pathway	IEA
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA
GO:0048664	neuron fate determination	IEA
GO:0048701	embryonic cranial skeleton morphogenesis	IEA
GO:0048844	artery morphogenesis	IEA
GO:0051216	cartilage development	IEA
GO:0060021	roof of mouth development	IEA
GO:0070570	regulation of neuron projection regeneration	IEA
GO:0097150	neuronal stem cell population maintenance	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005654	nucleoplasm	IDA
GO:0005829	cytosol	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of PRRX1 mRNA	18648102
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PRRX1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PRRX1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRRX1 mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of PRRX1 mRNA	20382639
C496492	abrine	abrine results in increased expression of PRRX1 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of PRRX1 mRNA	26690555
D000082	Acetaminophen	MAP3K5 protein affects the reaction [Acetaminophen results in increased expression of PRRX1 mRNA]	18700144
D020106	Acrylamide	Acrylamide results in increased expression of PRRX1 mRNA	30807115
D020106	Acrylamide	Acrylamide results in decreased expression of PRRX1 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of PRRX1 gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of PRRX1 intron	30157460
D000535	Aluminum	[APP protein modified form binds to Aluminum] which results in increased expression of PRRX1 mRNA	21298039
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of PRRX1 mRNA	16483693
D001104	Arbutin	Arbutin results in decreased expression of PRRX1 mRNA	17103032
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite affects the expression of PRRX1 mRNA	24160326
D017632	Asbestos, Serpentine	Asbestos, Serpentine affects the expression of PRRX1 mRNA	24160326
C547126	AZM551248	AZM551248 results in increased expression of PRRX1 mRNA	22323515
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of PRRX1 intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PRRX1 mRNA	22316170
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PRRX1 mRNA	22610609
C543008	bis(4-hydroxyphenyl)sulfone	[bis(4-hydroxyphenyl)sulfone co-treated with Tretinoin] results in decreased expression of PRRX1 mRNA	30951980
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of PRRX1 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the methylation of PRRX1 promoter	27334623
C006780	bisphenol A	[bisphenol A co-treated with Tretinoin] results in decreased expression of PRRX1 mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of PRRX1 mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of PRRX1 mRNA	25181051
C000611646	bisphenol F	[bisphenol F co-treated with Tretinoin] results in decreased expression of PRRX1 mRNA	30951980
C000611646	bisphenol F	bisphenol F results in increased expression of PRRX1 mRNA	30951980
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of PRRX1 mRNA	17484886
D002509	Cephaloridine	Cephaloridine results in decreased expression of PRRX1 mRNA	18500788
D002737	Chloroprene	Chloroprene results in decreased expression of PRRX1 mRNA	23125180
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PRRX1 gene	20938992
C074702	chromium hexavalent ion	chromium hexavalent ion affects the expression of PRRX1 mRNA	28472532
C018021	cobaltous chloride	cobaltous chloride results in increased expression of PRRX1 mRNA	19376846
D003471	Cuprizone	Cuprizone results in increased expression of PRRX1 mRNA	26577399
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in decreased expression of PRRX1 mRNA	23914054
D004041	Dietary Fats	Dietary Fats results in increased expression of PRRX1 mRNA	18042831
D004237	Diuron	Diuron results in decreased expression of PRRX1 mRNA	25152437
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PRRX1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PRRX1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRRX1 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of PRRX1 mRNA	29803840
C118739	entinostat	entinostat results in increased expression of PRRX1 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PRRX1 mRNA	27188386
D004958	Estradiol	Estradiol results in increased expression of PRRX1 mRNA	19484750
D000431	Ethanol	Ethanol results in increased expression of PRRX1 mRNA	30319688
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in decreased expression of PRRX1 mRNA	23649840
D017313	Fenretinide	Fenretinide results in increased expression of PRRX1 mRNA	16570282
D017313	Fenretinide	Fenretinide results in decreased expression of PRRX1 mRNA	28973697
D005472	Fluorouracil	Fluorouracil results in decreased expression of PRRX1 mRNA	24737281
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PRRX1 gene	20938992
C039281	furan	furan results in increased expression of PRRX1 mRNA	27387713
C000593030	GSK-J4	GSK-J4 results in increased expression of PRRX1 mRNA	29301935
D006861	Hydrogen Peroxide	Hydrogen Peroxide results in increased expression of PRRX1 mRNA	18951874
C545476	incobotulinumtoxinA	incobotulinumtoxinA results in increased expression of PRRX1 mRNA	29522793
D007213	Indomethacin	Indomethacin results in decreased expression of PRRX1 mRNA	24737281
C561695	(+)-JQ1 compound	[(+)-JQ1 compound co-treated with PD 0325901] results in decreased expression of PRRX1 mRNA	25119042
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of PRRX1 mRNA	24796395; 25119042;
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in increased expression of PRRX1 mRNA	24231268
C011890	kojic acid	kojic acid results in decreased expression of PRRX1 mRNA	16595896
C025340	manganese chloride	manganese chloride results in increased expression of PRRX1 mRNA	28801915
D017258	Medroxyprogesterone Acetate	Medroxyprogesterone Acetate results in decreased expression of PRRX1 mRNA	20843944
D008627	Mercuric Chloride	Mercuric Chloride affects the expression of PRRX1 mRNA	20353558
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PRRX1 gene	20938992
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of PRRX1 mRNA	28001369
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of PRRX1 mRNA	23649840
C523799	MRK 003	MRK 003 results in decreased expression of PRRX1 mRNA	21169257
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of PRRX1 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of PRRX1 mRNA	25554681
C007350	nitrofen	nitrofen results in decreased expression of PRRX1 mRNA	27665494
C007350	nitrofen	nitrofen results in decreased expression of PRRX1 protein	27665494
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of PRRX1 mRNA	30529165
D000073878	Palm Oil	Palm Oil results in increased expression of PRRX1 mRNA	18042831
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PRRX1 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of PRRX1 mRNA	26272509
D020245	p-Chloromercuribenzoic Acid	p-Chloromercuribenzoic Acid results in decreased expression of PRRX1 mRNA	26272509
C506614	PD 0325901	[(+)-JQ1 compound co-treated with PD 0325901] results in decreased expression of PRRX1 mRNA	25119042
C506614	PD 0325901	PD 0325901 results in decreased expression of PRRX1 mRNA	25119042
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRRX1 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of PRRX1 mRNA	26272509
D011374	Progesterone	Progesterone results in decreased expression of PRRX1 mRNA	21795739
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of PRRX1 mRNA	27029645
C116926	rofecoxib	rofecoxib affects the expression of PRRX1 mRNA	17070997
C025462	sulindac sulfide	sulindac sulfide results in decreased expression of PRRX1 mRNA	16184548
D000077210	Sunitinib	Sunitinib results in decreased expression of PRRX1 mRNA	31533062
D013629	Tamoxifen	Tamoxifen results in increased expression of PRRX1 mRNA	25123088
C045037	testosterone-3-carboxymethyloxime-bovine serum albumin conjugate	testosterone-3-carboxymethyloxime-bovine serum albumin conjugate affects the expression of PRRX1 mRNA	20189893
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PRRX1 mRNA	24058054
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of PRRX1 mRNA	17586704
D014212	Tretinoin	Tretinoin results in decreased expression of PRRX1 mRNA	17045167
D014212	Tretinoin	[bis(4-hydroxyphenyl)sulfone co-treated with Tretinoin] results in decreased expression of PRRX1 mRNA	30951980
D014212	Tretinoin	[bisphenol A co-treated with Tretinoin] results in decreased expression of PRRX1 mRNA	30951980
D014212	Tretinoin	[bisphenol F co-treated with Tretinoin] results in decreased expression of PRRX1 mRNA	30951980
C012589	trichostatin A	trichostatin A results in increased expression of PRRX1 mRNA	24935251
D014260	Triclosan	Triclosan results in increased expression of PRRX1 mRNA	30510588
D014635	Valproic Acid	Valproic Acid affects the expression of PRRX1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of PRRX1 mRNA	23179753; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased expression of PRRX1 mRNA	24935251
D014635	Valproic Acid	Valproic Acid affects the expression of PRRX1 mRNA	17292431
D014635	Valproic Acid	Valproic Acid results in increased expression of PRRX1 mRNA	24896083
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of PRRX1 gene	25560391

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0007	Acetylation
KW-0025	Alternative splicing
KW-0217	Developmental protein
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-0371	Homeobox
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR009057	Homeobox-like_sf
IPR017970	Homeobox_CS
IPR001356	Homeobox_dom
IPR003654	OAR_dom
IPR043378	PRRX1/2

PROSITE

PROSITE ID	PROSITE Term
PS00027	HOMEOBOX_1
PS50071	HOMEOBOX_2
PS50803	OAR

Pfam

Pfam ID	Pfam Term
PF00046	Homeodomain
PF03826	OAR

Gene: PRRX1

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

There is no related protein structure for this gene.

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