CleftGeneDB-Search

Gene: PBX1

Basic information

Tag	Content
Uniprot ID	P40424; B4DSC1; F5H4U9; Q5T488;
Entrez ID	5087
Genbank protein ID	AAA36764.1; AAA60031.1; BAG61583.1; AAI01579.1; AAG30941.1;
Genbank nucleotide ID	NM_001204963.1; XM_005245229.3; NM_002585.3;
Ensembl protein ID	ENSP00000405890; ENSP00000485692; ENSP00000356872;
Ensembl nucleotide ID	ENSG00000185630
Gene name	Pre-B-cell leukemia transcription factor 1
Gene symbol	PBX1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Binds the sequence 5'-ATCAATCAA-3'. Acts as a transcriptional activator of PF4 in complex with MEIS1. Converted into a potent transcriptional activator by the (1;19) translocation. May have a role in steroidogenesis and, subsequently, sexual development and differentiation. Isoform PBX1b as part of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element. Probably in complex with MEIS2, is involved in transcriptional regulation by KLF4. Acts as a transcriptional activator of NKX2-5 and a transcriptional repressor of CDKN2B. Together with NKX2-5, it is required for spleen development through a mechanism that involves CDKN2B repression (By similarity).
Sequence	MDEQPRLMHS HAGVGMAGHP GLSQHLQDGA GGTEGEGGRK QDIGDILQQI MTITDQSLDE 60 AQARKHALNC HRMKPALFNV LCEIKEKTVL SIRGAQEEEP TDPQLMRLDN MLLAEGVAGP 120 EKGGGSAAAA AAAAASGGAG SDNSVEHSDY RAKLSQIRQI YHTELEKYEQ ACNEFTTHVM 180 NLLREQSRTR PISPKEIERM VSIIHRKFSS IQMQLKQSTC EAVMILRSRF LDARRKRRNF 240 NKQATEILNE YFYSHLSNPY PSEEAKEELA KKCGITVSQV SNWFGNKRIR YKKNIGKFQE 300 EANIYAAKTA VTATNVSAHG SQANSPSTPN SAGSSSSFNM SNSGDLFMSV QSLNGDSYQG 360 AQVGANVQSQ VDTLRHVISQ TGGYSDGLAA SQMYSPQGIS ANGGWQDATT PSSVTSPTEG 420 PGSVHSDTSN

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
1B72
1PUF

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	PBX1		F1PDM8			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	PBX1		A0A452FB79			Capra hircus	Prediction	More>>
1:1 ortholog	PBX1	5087	P40424			Homo sapiens	Prediction	More>>
1:1 ortholog	Pbx1	18514	P41778	CPO,CLP,CLO	E13.5	Mus musculus	Publication	More>>
1:1 ortholog	PBX1	457474	A0A2I3RPY9			Pan troglodytes	Prediction	More>>
1:1 ortholog	Pbx1		D3ZJI6			Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs375925928	p.Glu3Asp	missense variant	-	NC_000001.11:g.164559831G>C	ESP,TOPMed,gnomAD
rs1031011831	p.Gln4His	missense variant	-	NC_000001.11:g.164559834G>C	TOPMed,gnomAD
rs1344429665	p.Arg6Ser	missense variant	-	NC_000001.11:g.164559840G>T	TOPMed
rs958254448	p.Met8Leu	missense variant	-	NC_000001.11:g.164559844A>C	TOPMed,gnomAD
rs958254448	p.Met8Val	missense variant	-	NC_000001.11:g.164559844A>G	TOPMed,gnomAD
rs1435469620	p.His11Tyr	missense variant	-	NC_000001.11:g.164559853C>T	gnomAD
rs747490519	p.His11Leu	missense variant	-	NC_000001.11:g.164559854A>T	ExAC,TOPMed
rs1304780734	p.Gly13Glu	missense variant	-	NC_000001.11:g.164559860G>A	gnomAD
rs1431301757	p.Gly15Glu	missense variant	-	NC_000001.11:g.164559866G>A	TOPMed
rs769041303	p.Ala17Val	missense variant	-	NC_000001.11:g.164559872C>T	ExAC,gnomAD
rs544057798	p.Gly18Arg	missense variant	-	NC_000001.11:g.164559874G>C	1000Genomes,ExAC,gnomAD
rs544057798	p.Gly18Arg	missense variant	-	NC_000001.11:g.164559874G>A	1000Genomes,ExAC,gnomAD
rs1379669919	p.Gly18Glu	missense variant	-	NC_000001.11:g.164559875G>A	gnomAD
rs544057798	p.Gly18Ter	stop gained	-	NC_000001.11:g.164559874G>T	1000Genomes,ExAC,gnomAD
rs773577978	p.His19Pro	missense variant	-	NC_000001.11:g.164559878A>C	ExAC,gnomAD
rs763090532	p.His19Gln	missense variant	-	NC_000001.11:g.164559879C>A	ExAC,TOPMed,gnomAD
rs765608918	p.His19Tyr	missense variant	-	NC_000001.11:g.164559877C>T	ExAC,gnomAD
rs1211667432	p.Pro20Thr	missense variant	-	NC_000001.11:g.164559880C>A	gnomAD
rs1249217854	p.Pro20Arg	missense variant	-	NC_000001.11:g.164559881C>G	gnomAD
rs1249217854	p.Pro20Leu	missense variant	-	NC_000001.11:g.164559881C>T	gnomAD
rs2275558	p.Gly21Ser	missense variant	-	NC_000001.11:g.164559883G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu22Met	missense variant	-	NC_000001.11:g.164559886C>A	NCI-TCGA
rs751494699	p.Gln24Arg	missense variant	-	NC_000001.11:g.164559893A>G	ExAC
rs1418007558	p.Leu26Val	missense variant	-	NC_000001.11:g.164559898T>G	TOPMed
rs1480951245	p.Asp28Val	missense variant	-	NC_000001.11:g.164559905A>T	TOPMed
NCI-TCGA novel	p.Gly29Val	missense variant	-	NC_000001.11:g.164559908G>T	NCI-TCGA
rs192264696	p.Gly31Val	missense variant	-	NC_000001.11:g.164559914G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2275558	p.Gly31Ser	missense variant	-	NC_000001.11:g.164559883G>A	UniProt,dbSNP
VAR_068904	p.Gly31Ser	missense variant	-	NC_000001.11:g.164559883G>A	UniProt
rs1192905716	p.Gly31Arg	missense variant	-	NC_000001.11:g.164559913G>A	gnomAD
VAR_068904	p.Gly31Ser	Missense	-	-	UniProt
rs1433807647	p.Gly32Glu	missense variant	-	NC_000001.11:g.164559917G>A	TOPMed,gnomAD
rs1178355813	p.Thr33Ala	missense variant	-	NC_000001.11:g.164559919A>G	TOPMed,gnomAD
rs1178355813	p.Thr33Pro	missense variant	-	NC_000001.11:g.164559919A>C	TOPMed,gnomAD
rs1305643442	p.Gly35Arg	missense variant	-	NC_000001.11:g.164559925G>A	TOPMed
rs1461673861	p.Gly35Glu	missense variant	-	NC_000001.11:g.164559926G>A	gnomAD
rs1461673861	p.Gly35Ala	missense variant	-	NC_000001.11:g.164559926G>C	gnomAD
rs1299022900	p.Gly37Asp	missense variant	-	NC_000001.11:g.164559932G>A	gnomAD
rs370561885	p.Gly38Glu	missense variant	-	NC_000001.11:g.164559935G>A	ESP,ExAC,TOPMed,gnomAD
rs1325785503	p.Arg39Lys	missense variant	-	NC_000001.11:g.164559938G>A	gnomAD
rs777341799	p.Asp45Ala	missense variant	-	NC_000001.11:g.164559956A>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp45ThrPheSerTerUnk	frameshift	-	NC_000001.11:g.164559954A>-	NCI-TCGA
rs1306484700	p.Ser57Asn	missense variant	-	NC_000001.11:g.164559992G>A	gnomAD
rs148894677	p.Ala63Ser	missense variant	-	NC_000001.11:g.164560009G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala67Ser	missense variant	-	NC_000001.11:g.164563245G>T	NCI-TCGA
NCI-TCGA novel	p.Asn69His	missense variant	-	NC_000001.11:g.164563251A>C	NCI-TCGA
COSM3477565	p.Met73Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164563265G>A	NCI-TCGA Cosmic
rs369144775	p.Pro75Leu	missense variant	-	NC_000001.11:g.164563270C>T	ESP,ExAC,TOPMed
rs749957295	p.Asn79Tyr	missense variant	-	NC_000001.11:g.164563281A>T	ExAC,gnomAD
COSM1335880	p.Thr88GlnPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.164563303A>-	NCI-TCGA Cosmic
COSM6122431	p.Val89Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164563311G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu90IleLeu	insertion	-	NC_000001.11:g.164563311_164563312insTTTTGA	NCI-TCGA
NCI-TCGA novel	p.Arg93Gln	missense variant	-	NC_000001.11:g.164792506G>A	NCI-TCGA
rs1481766438	p.Arg93Leu	missense variant	-	NC_000001.11:g.164792506G>T	TOPMed
rs1423937629	p.Arg93Ter	stop gained	-	NC_000001.11:g.164792505C>T	TOPMed,gnomAD
rs1423937629	p.Arg93Gly	missense variant	-	NC_000001.11:g.164792505C>G	TOPMed,gnomAD
rs35543782	p.Gly94Glu	missense variant	-	NC_000001.11:g.164792509G>A	TOPMed
COSM3863385	p.Gln96Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.164792514C>T	NCI-TCGA Cosmic
rs1466947651	p.Asp102Ala	missense variant	-	NC_000001.11:g.164792533A>C	gnomAD
NCI-TCGA novel	p.Pro103Ser	missense variant	-	NC_000001.11:g.164792535C>T	NCI-TCGA
NCI-TCGA novel	p.Arg107Trp	missense variant	-	NC_000001.11:g.164792547C>T	NCI-TCGA
rs757647151	p.Asp109Asn	missense variant	-	NC_000001.11:g.164792553G>A	ExAC,gnomAD
NCI-TCGA novel	p.Met111Leu	missense variant	-	NC_000001.11:g.164792559A>T	NCI-TCGA
COSM1295405	p.Val117Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164792577G>A	NCI-TCGA Cosmic
rs1332887753	p.Ala118Ser	missense variant	-	NC_000001.11:g.164792580G>T	gnomAD
COSM4846269	p.Glu121Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164792589G>C	NCI-TCGA Cosmic
rs775678833	p.Lys122Arg	missense variant	-	NC_000001.11:g.164792593A>G	ExAC,gnomAD
COSM1185634	p.Lys122Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164792594G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser126Pro	missense variant	-	NC_000001.11:g.164792604T>C	NCI-TCGA
rs962037824	p.Ser126Ala	missense variant	-	NC_000001.11:g.164792604T>G	TOPMed
rs768635810	p.Ser126Leu	missense variant	-	NC_000001.11:g.164792605C>T	ExAC,gnomAD
rs1349939044	p.Ala127Val	missense variant	-	NC_000001.11:g.164792608C>T	TOPMed
rs1210943507	p.Ala128Val	missense variant	-	NC_000001.11:g.164792611C>T	gnomAD
rs765108033	p.Ala130Thr	missense variant	-	NC_000001.11:g.164792616G>A	ExAC,gnomAD
rs772720191	p.Ala130Glu	missense variant	-	NC_000001.11:g.164792617C>A	ExAC,TOPMed,gnomAD
rs772720191	p.Ala130Val	missense variant	-	NC_000001.11:g.164792617C>T	ExAC,TOPMed,gnomAD
rs765108033	p.Ala130Ser	missense variant	-	NC_000001.11:g.164792616G>T	ExAC,gnomAD
rs765806321	p.Ala131Val	missense variant	-	NC_000001.11:g.164792620C>T	ExAC,gnomAD
rs1185439958	p.Ala132Val	missense variant	-	NC_000001.11:g.164792623C>T	gnomAD
rs1458267934	p.Ala133Glu	missense variant	-	NC_000001.11:g.164792626C>A	gnomAD
rs1458267934	p.Ala133Val	missense variant	-	NC_000001.11:g.164792626C>T	gnomAD
rs754428947	p.Ala134Val	missense variant	-	NC_000001.11:g.164792629C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly137Val	missense variant	-	NC_000001.11:g.164792638G>T	NCI-TCGA
RCV000578425	p.Gly138Ter	frameshift	CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (CAKUTHED)	NC_000001.11:g.164792641_164792647del	ClinVar
rs1454591193	p.Gly138Ala	missense variant	-	NC_000001.11:g.164792641G>C	TOPMed
rs201279083	p.Ala139Thr	missense variant	-	NC_000001.11:g.164792643G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly140Cys	missense variant	-	NC_000001.11:g.164792646G>T	NCI-TCGA
rs953834516	p.Gly140Ser	missense variant	-	NC_000001.11:g.164792646G>A	TOPMed,gnomAD
rs953834516	p.Gly140Arg	missense variant	-	NC_000001.11:g.164792646G>C	TOPMed,gnomAD
RCV000760618	p.Ser141Ter	nonsense	-	NC_000001.11:g.164792650C>G	ClinVar
RCV000504557	p.Asn143Ter	frameshift	CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (CAKUTHED)	NC_000001.11:g.164792656del	ClinVar
NCI-TCGA novel	p.Asp149Val	missense variant	-	NC_000001.11:g.164792674A>T	NCI-TCGA
COSM3477581	p.Asp149Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164792673G>A	NCI-TCGA Cosmic
COSM3863387	p.Ala152Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164792683C>G	NCI-TCGA Cosmic
rs747029494	p.Lys153Arg	missense variant	-	NC_000001.11:g.164792686A>G	ExAC,gnomAD
rs1489019776	p.Gln159His	missense variant	-	NC_000001.11:g.164792705A>C	gnomAD
rs1410575958	p.Tyr161Phe	missense variant	-	NC_000001.11:g.164792710A>T	TOPMed
COSM3477582	p.His162Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164792712C>T	NCI-TCGA Cosmic
COSM3984431	p.Thr163Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164792716C>T	NCI-TCGA Cosmic
COSM898867	p.Glu164Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.164792718G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu169Ter	stop gained	-	NC_000001.11:g.164792733G>T	NCI-TCGA
COSM898868	p.Glu174Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164799708G>A	NCI-TCGA Cosmic
rs375506788	p.His178Gln	missense variant	-	NC_000001.11:g.164799722C>G	ESP,ExAC,TOPMed,gnomAD
rs769833066	p.Met180Ile	missense variant	-	NC_000001.11:g.164799728G>T	ExAC,gnomAD
COSM4499534	p.Leu182Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164799732C>T	NCI-TCGA Cosmic
COSM4024700	p.Leu183Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164799735C>A	NCI-TCGA Cosmic
RCV000504555	p.Arg184Ter	nonsense	CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (CAKUTHED)	NC_000001.11:g.164799738C>T	ClinVar
rs1553248081	p.Arg184Ter	stop gained	-	NC_000001.11:g.164799738C>T	-
VAR_079369	p.Arg184_Asn430del	inframe_deletion	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay (CAKUTHED) [MIM:617641]	-	UniProt
rs556050975	p.Gln186His	missense variant	-	NC_000001.11:g.164799746A>T	1000Genomes,ExAC,gnomAD
COSM6122427	p.Arg188Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164799751G>T	NCI-TCGA Cosmic
rs774100520	p.Pro194Ser	missense variant	-	NC_000001.11:g.164799768C>T	ExAC,gnomAD
rs771675680	p.Arg199Trp	missense variant	-	NC_000001.11:g.164799783C>T	ExAC,gnomAD
rs1433896828	p.Arg199Gln	missense variant	-	NC_000001.11:g.164799784G>A	gnomAD
rs775205004	p.Val201Gly	missense variant	-	NC_000001.11:g.164799790T>G	ExAC,gnomAD
NCI-TCGA novel	p.Ile203Val	missense variant	-	NC_000001.11:g.164799795A>G	NCI-TCGA
COSM3789020	p.Ile204Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164799798A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile204Thr	missense variant	-	NC_000001.11:g.164799799T>C	NCI-TCGA
COSM5156090	p.His205Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164799802A>G	NCI-TCGA Cosmic
rs1421804755	p.Arg206Leu	missense variant	-	NC_000001.11:g.164799805G>T	gnomAD
rs1171842620	p.Phe208Cys	missense variant	-	NC_000001.11:g.164799811T>G	gnomAD
NCI-TCGA novel	p.Gln214His	missense variant	-	NC_000001.11:g.164799830G>T	NCI-TCGA
COSM5844344	p.Thr219Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164799844C>T	NCI-TCGA Cosmic
COSM3789021	p.Glu221Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164799849G>A	NCI-TCGA Cosmic
rs1553248110	p.Arg227Pro	missense variant	-	NC_000001.11:g.164799868G>C	-
NCI-TCGA novel	p.Arg227His	missense variant	-	NC_000001.11:g.164799868G>A	NCI-TCGA
RCV000626307	p.Arg227Pro	missense variant	CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (CAKUTHED)	NC_000001.11:g.164799868G>C	ClinVar
COSM3477585	p.Arg229Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164799874G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu231Gln	missense variant	-	NC_000001.11:g.164799880T>A	NCI-TCGA
COSM6122424	p.Asp232Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164799883A>T	NCI-TCGA Cosmic
COSM4024701	p.Ala233Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164799886C>T	NCI-TCGA Cosmic
COSM6122421	p.Ala233Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164799885G>T	NCI-TCGA Cosmic
RCV000677637	p.Arg234Gln	missense variant	CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (CAKUTHED)	NC_000001.11:g.164799889G>A	ClinVar
rs1218945005	p.Arg234Trp	missense variant	-	NC_000001.11:g.164799888C>T	gnomAD
RCV000626308	p.Arg234Pro	missense variant	CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (CAKUTHED)	NC_000001.11:g.164799889G>C	ClinVar
rs1553249136	p.Arg235Gln	missense variant	-	NC_000001.11:g.164807544G>A	-
RCV000626309	p.Arg235Gln	missense variant	CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (CAKUTHED)	NC_000001.11:g.164807544G>A	ClinVar
NCI-TCGA novel	p.Arg238Gln	missense variant	-	NC_000001.11:g.164807553G>A	NCI-TCGA
NCI-TCGA novel	p.Phe252SerPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.164807593T>-	NCI-TCGA
COSM383742	p.Leu256Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164807606C>T	NCI-TCGA Cosmic
COSM424450	p.Asn258Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164807612A>T	NCI-TCGA Cosmic
COSM4024702	p.Tyr260Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164807619A>G	NCI-TCGA Cosmic
RCV000626310	p.Ser262Ter	frameshift	CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (CAKUTHED)	NC_000001.11:g.164807623dup	ClinVar
NCI-TCGA novel	p.Ser262Gly	missense variant	-	NC_000001.11:g.164807624A>G	NCI-TCGA
COSM676519	p.Glu267Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164807641G>T	NCI-TCGA Cosmic
RCV000735243	p.Cys273Tyr	missense variant	CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (CAKUTHED)	NC_000001.11:g.164807658G>A	ClinVar
rs1259895025	p.Arg288Ter	stop gained	-	NC_000001.11:g.164812014C>T	gnomAD
COSM3863388	p.Arg288Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164812015G>A	NCI-TCGA Cosmic
COSM2088768	p.Arg290Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164812020C>T	NCI-TCGA Cosmic
rs753922245	p.Glu301Lys	missense variant	-	NC_000001.11:g.164812053G>A	ExAC,gnomAD
rs1458613469	p.Ala307Thr	missense variant	-	NC_000001.11:g.164812071G>A	gnomAD
rs1181126074	p.Ala310Thr	missense variant	-	NC_000001.11:g.164812080G>A	gnomAD
NCI-TCGA novel	p.Thr312Ter	frameshift	-	NC_000001.11:g.164812082_164812083insGTATA	NCI-TCGA
rs1477435698	p.Thr314Ala	missense variant	-	NC_000001.11:g.164812092A>G	gnomAD
NCI-TCGA novel	p.Thr314Ser	missense variant	-	NC_000001.11:g.164812092A>T	NCI-TCGA
rs546195075	p.Asn315Ser	missense variant	-	NC_000001.11:g.164812096A>G	gnomAD
NCI-TCGA novel	p.Ala318Val	missense variant	-	NC_000001.11:g.164812105C>T	NCI-TCGA
COSM4940480	p.Ala318Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164812105C>A	NCI-TCGA Cosmic
rs765200363	p.Asn324Asp	missense variant	-	NC_000001.11:g.164812122A>G	ExAC,gnomAD
rs1400850042	p.Thr328Ile	missense variant	-	NC_000001.11:g.164812135C>T	gnomAD
COSM676518	p.Thr328Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164812134A>G	NCI-TCGA Cosmic
rs1290495014	p.Pro329Arg	missense variant	-	NC_000001.11:g.164812138C>G	TOPMed
NCI-TCGA novel	p.Pro329Ser	missense variant	-	NC_000001.11:g.164812137C>T	NCI-TCGA
rs1175974386	p.Gly333Asp	missense variant	-	NC_000001.11:g.164820072G>A	TOPMed
rs1480599224	p.Ser335Cys	missense variant	-	NC_000001.11:g.164820078C>G	TOPMed
rs1424046891	p.Ser336Thr	missense variant	-	NC_000001.11:g.164820081G>C	gnomAD
COSM1127286	p.Phe338Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164820087T>G	NCI-TCGA Cosmic
rs1310898359	p.Asn339Ser	missense variant	-	NC_000001.11:g.164820090A>G	gnomAD
rs1256887115	p.Met340Val	missense variant	-	NC_000001.11:g.164820092A>G	TOPMed
rs776997383	p.Ser341Leu	missense variant	-	NC_000001.11:g.164820096C>T	ExAC,gnomAD
rs1161353651	p.Asn342Asp	missense variant	-	NC_000001.11:g.164820098A>G	gnomAD
COSM6059266	p.Ser343Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164820102C>G	NCI-TCGA Cosmic
rs1212721505	p.Asp345Val	missense variant	-	NC_000001.11:g.164820108A>T	TOPMed
NCI-TCGA novel	p.Leu346Val	missense variant	-	NC_000001.11:g.164820110T>G	NCI-TCGA
rs1324292200	p.Leu346Phe	missense variant	-	NC_000001.11:g.164820112G>T	gnomAD
rs1321918768	p.Met348Leu	missense variant	-	NC_000001.11:g.164820116A>T	TOPMed
rs761944828	p.Met348Ile	missense variant	-	NC_000001.11:g.164820118G>A	ExAC,TOPMed,gnomAD
rs761944828	p.Met348Ile	missense variant	-	NC_000001.11:g.164820118G>C	ExAC,TOPMed,gnomAD
rs750360584	p.Val350Met	missense variant	-	NC_000001.11:g.164820122G>A	ExAC,TOPMed,gnomAD
COSM6059263	p.Leu353Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164820132T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn354Ser	missense variant	-	NC_000001.11:g.164820135A>G	NCI-TCGA
COSM3477589	p.Asp356Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164820140G>A	NCI-TCGA Cosmic
rs1282894507	p.Asp356Val	missense variant	-	NC_000001.11:g.164820141A>T	gnomAD
rs751257842	p.Ser357Ala	missense variant	-	NC_000001.11:g.164820143T>G	ExAC
NCI-TCGA novel	p.Gly360Val	missense variant	-	NC_000001.11:g.164820153G>T	NCI-TCGA
COSM898872	p.Ala361Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164820156C>T	NCI-TCGA Cosmic
COSM4916306	p.Ala361Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164820155G>A	NCI-TCGA Cosmic
rs780672150	p.Ala361Ser	missense variant	-	NC_000001.11:g.164820155G>T	ExAC,TOPMed,gnomAD
COSM3477590	p.Gly364Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164820165G>A	NCI-TCGA Cosmic
rs752373773	p.Ala365Asp	missense variant	-	NC_000001.11:g.164820168C>A	ExAC,gnomAD
rs1372566739	p.Asn366Ile	missense variant	-	NC_000001.11:g.164820171A>T	TOPMed
rs142396283	p.Val367Met	missense variant	-	NC_000001.11:g.164820173G>A	ESP,ExAC,TOPMed,gnomAD
rs906379595	p.Gln368Lys	missense variant	-	NC_000001.11:g.164820176C>A	TOPMed,gnomAD
rs746371607	p.Gln368Pro	missense variant	-	NC_000001.11:g.164820177A>C	ExAC,gnomAD
rs747269460	p.Gln370Arg	missense variant	-	NC_000001.11:g.164820183A>G	ExAC
rs747269460	p.Gln370Leu	missense variant	-	NC_000001.11:g.164820183A>T	ExAC
rs1339209588	p.Leu374His	missense variant	-	NC_000001.11:g.164821547T>A	gnomAD
rs868781414	p.Arg375Cys	missense variant	-	NC_000001.11:g.164821549C>T	-
rs201963901	p.Arg375His	missense variant	-	NC_000001.11:g.164821550G>A	ExAC,TOPMed,gnomAD
rs775324300	p.Ile378Val	missense variant	-	NC_000001.11:g.164821558A>G	ExAC,TOPMed,gnomAD
rs775324300	p.Ile378Phe	missense variant	-	NC_000001.11:g.164821558A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser379Gly	missense variant	-	NC_000001.11:g.164821561A>G	NCI-TCGA
NCI-TCGA novel	p.Gly382Glu	missense variant	-	NC_000001.11:g.164821571G>A	NCI-TCGA
rs753557796	p.Tyr384Cys	missense variant	-	NC_000001.11:g.164821577A>G	ExAC,gnomAD
rs1037995461	p.Ser385Asn	missense variant	-	NC_000001.11:g.164821580G>A	-
rs201029742	p.Gly387Val	missense variant	-	NC_000001.11:g.164821586G>T	1000Genomes,ExAC,gnomAD
rs541105414	p.Ala389Thr	missense variant	-	NC_000001.11:g.164821591G>A	1000Genomes,ExAC,gnomAD
rs748459643	p.Ala390Val	missense variant	-	NC_000001.11:g.164821595C>T	ExAC,gnomAD
rs564455203	p.Ala390Thr	missense variant	-	NC_000001.11:g.164821594G>A	1000Genomes,ExAC,gnomAD
rs1251320270	p.Gln392Arg	missense variant	-	NC_000001.11:g.164821601A>G	TOPMed,gnomAD
rs1420999764	p.Gln392His	missense variant	-	NC_000001.11:g.164821602G>C	gnomAD
rs1196974442	p.Met393Lys	missense variant	-	NC_000001.11:g.164821604T>A	gnomAD
rs756581427	p.Tyr394Cys	missense variant	-	NC_000001.11:g.164821607A>G	ExAC,TOPMed,gnomAD
rs1466818722	p.Pro396Leu	missense variant	-	NC_000001.11:g.164821613C>T	gnomAD
rs770885352	p.Gln397Arg	missense variant	-	NC_000001.11:g.164821616A>G	ExAC,gnomAD
rs146653553	p.Gly398Ser	missense variant	-	NC_000001.11:g.164821618G>A	ESP,ExAC,TOPMed
rs745780226	p.Ser400Gly	missense variant	-	NC_000001.11:g.164821624A>G	ExAC,gnomAD
rs1332683363	p.Ser400Arg	missense variant	-	NC_000001.11:g.164821626T>G	gnomAD
rs1297562435	p.Asn402His	missense variant	-	NC_000001.11:g.164846587A>C	gnomAD
COSM4024703	p.Asn402Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164846587A>G	NCI-TCGA Cosmic
rs768408673	p.Gly404Asp	missense variant	-	NC_000001.11:g.164846594G>A	ExAC,gnomAD
rs1264921684	p.Trp405Cys	missense variant	-	NC_000001.11:g.164846598G>T	gnomAD
rs776551626	p.Pro411His	missense variant	-	NC_000001.11:g.164846615C>A	ExAC,gnomAD
rs1224964185	p.Val414Met	missense variant	-	NC_000001.11:g.164846623G>A	gnomAD
rs773697815	p.Thr418Ala	missense variant	-	NC_000001.11:g.164846635A>G	TOPMed
rs1205686195	p.Gly420Asp	missense variant	-	NC_000001.11:g.164846642G>A	gnomAD
rs150307059	p.Gly422Asp	missense variant	-	NC_000001.11:g.164846648G>A	ESP,ExAC,TOPMed,gnomAD
rs1302539075	p.His425Arg	missense variant	-	NC_000001.11:g.164846657A>G	TOPMed
COSM424452	p.His425Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164846656C>A	NCI-TCGA Cosmic
rs1456864262	p.Ser429Tyr	missense variant	-	NC_000001.11:g.164846669C>A	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0001621	Adrenal Gland Diseases	group	BEFREE
C0001623	Adrenal gland hypofunction	phenotype	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006413	Burkitt Lymphoma	disease	BEFREE;CTD_human;ORPHANET
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	LHGDN
C0008626	Congenital chromosomal disease	group	BEFREE
C0011847	Diabetes	disease	BEFREE
C0011849	Diabetes Mellitus	group	BEFREE;LHGDN
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE
C0013146	Drug abuse	disease	CTD_human
C0013170	Drug habituation	phenotype	CTD_human
C0013222	Drug Use Disorders	group	CTD_human
C0017075	Ganglioneuroma	disease	BEFREE
C0018939	Hematological Disease	group	BEFREE
C0021294	Infant, Premature	phenotype	BEFREE
C0023418	leukemia	disease	BEFREE;LHGDN
C0023448	Lymphoid leukemia	disease	BEFREE;LHGDN
C0023449	Acute lymphocytic leukemia	disease	BEFREE
C0023452	Childhood Acute Lymphoblastic Leukemia	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0023470	Myeloid Leukemia	disease	BEFREE
C0023485	Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	disease	BEFREE
C0023487	Acute Promyelocytic Leukemia	disease	BEFREE
C0024121	Lung Neoplasms	group	BEFREE
C0024131	Lupus Vulgaris	disease	BEFREE
C0024138	Lupus Erythematosus, Discoid	disease	BEFREE
C0024141	Lupus Erythematosus, Systemic	disease	BEFREE
C0024299	Lymphoma	group	BEFREE
C0025202	melanoma	disease	BEFREE
C0025517	Metabolic Diseases	group	BEFREE
C0027070	Myoepithelioma	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027708	Nephroblastoma	disease	BEFREE
C0027819	Neuroblastoma	group	BEFREE
C0028768	Obsessive-Compulsive Disorder	disease	BEFREE
C0029231	Organic Mental Disorders, Substance-Induced	disease	CTD_human
C0029925	Ovarian Carcinoma	disease	BEFREE
C0032019	Pituitary Neoplasms	group	BEFREE
C0033578	Prostatic Neoplasms	group	LHGDN
C0035369	Retroviridae Infections	group	BEFREE
C0038580	Substance Dependence	disease	CTD_human
C0038586	Substance Use Disorders	group	CTD_human
C0039585	Androgen-Insensitivity Syndrome	disease	BEFREE
C0039685	Tetralogy of Fallot	disease	BEFREE
C0041207	Truncus Arteriosus, Persistent	disease	BEFREE
C0085669	Acute leukemia	disease	BEFREE
C0086942	Rous Sarcoma	disease	BEFREE
C0235974	Pancreatic carcinoma	disease	BEFREE
C0236969	Substance-Related Disorders	group	CTD_human
C0242596	Neoplasm, Residual	phenotype	BEFREE
C0334276	Adenocarcinoma in Situ	phenotype	BEFREE
C0343640	African Burkitt's lymphoma	disease	CTD_human
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0349636	Pre B-cell acute lymphoblastic leukemia	disease	BEFREE
C0349637	Common acute lymphoblastic leukemia	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0376544	Hematopoietic Neoplasms	group	BEFREE
C0376545	Hematologic Neoplasms	group	BEFREE
C0409974	Lupus Erythematosus	disease	BEFREE
C0424295	Hyperactive behavior	phenotype	BEFREE
C0431692	Bilateral renal hypoplasia	disease	ORPHANET
C0432412	Chromosome 8, trisomy	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0598766	Leukemogenesis	disease	BEFREE
C0600031	Congenital absence of spleen	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C0740858	Substance abuse problem	disease	CTD_human
C0751606	Adult Acute Lymphocytic Leukemia	disease	BEFREE
C0919267	ovarian neoplasm	disease	LHGDN
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1292769	Precursor B-cell lymphoblastic leukemia	disease	BEFREE;ORPHANET
C1332977	Childhood Leukemia	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE
C1510472	Drug Dependence	phenotype	CTD_human
C1654637	androgen independent prostate cancer	disease	BEFREE
C1698581	Rokitansky Kuster Hauser syndrome	disease	BEFREE
C1961102	Precursor Cell Lymphoblastic Leukemia Lymphoma	disease	BEFREE;LHGDN
C1968949	Cakut	disease	GENOMICS_ENGLAND
C2697636	Hyperdiploid B Acute Lymphoblastic Leukemia	disease	BEFREE
C2745900	Promyelocytic leukemia	disease	BEFREE
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C3826044	Lymphoblastic leukemia in children	disease	BEFREE
C3896960	Childhood Pre-B Acute Lymphoblastic Leukemia	disease	BEFREE
C4316881	Prescription Drug Abuse	phenotype	CTD_human

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:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003677	DNA binding	IDA
GO:0003700	DNA-binding transcription factor activity	NAS
GO:0005515	protein binding	IPI
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001658	branching involved in ureteric bud morphogenesis	IEA
GO:0006694	steroid biosynthetic process	IEA
GO:0007221	positive regulation of transcription of Notch receptor target	TAS
GO:0007548	sex differentiation	IEA
GO:0008284	positive regulation of cell population proliferation	IEA
GO:0009952	anterior/posterior pattern specification	IEA
GO:0009954	proximal/distal pattern formation	IEA
GO:0010971	positive regulation of G2/M transition of mitotic cell cycle	IEA
GO:0030278	regulation of ossification	IEA
GO:0030325	adrenal gland development	IEA
GO:0030326	embryonic limb morphogenesis	IEA
GO:0035019	somatic stem cell population maintenance	TAS
GO:0035162	embryonic hemopoiesis	IEA
GO:0045665	negative regulation of neuron differentiation	IEA
GO:0048536	spleen development	IEA
GO:0048538	thymus development	IEA
GO:0048706	embryonic skeletal system development	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	IDA
GO:0005654	nucleoplasm	IDA
GO:0005654	nucleoplasm	TAS
GO:0005737	cytoplasm	IDA
GO:0090575	RNA polymerase II transcription factor complex	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1266738	Developmental Biology	TAS
R-HSA-1266738	Developmental Biology	IEA
R-HSA-157118	Signaling by NOTCH	TAS
R-HSA-162582	Signal Transduction	TAS
R-HSA-452723	Transcriptional regulation of pluripotent stem cells	TAS
R-HSA-5617472	Activation of anterior HOX genes in hindbrain development during early embryogenesis	IEA
R-HSA-5619507	Activation of HOX genes during differentiation	IEA
R-HSA-9012852	Signaling by NOTCH3	TAS
R-HSA-9013508	NOTCH3 Intracellular Domain Regulates Transcription	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C029790	2,2',3',4,4',5-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of PBX1 mRNA	25510870
C081766	2,4,4'-trichlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of PBX1 mRNA	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of PBX1 mRNA	25510870
C009828	2,4,5,2',5'-pentachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of PBX1 mRNA	25510870
C009407	2,5,2',5'-tetrachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of PBX1 mRNA	25510870
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 PBX1 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 PBX1 mRNA	19150397
C496492	abrine	abrine results in decreased expression of PBX1 mRNA	31054353
D000079	Acetaldehyde	Acetaldehyde affects the expression of PBX1 mRNA	22634333
D000082	Acetaminophen	Acetaminophen results in decreased expression of PBX1 mRNA	29067470
D000082	Acetaminophen	Acetaminophen affects the expression of PBX1 mRNA	17562736
D020106	Acrylamide	Acrylamide results in decreased expression of PBX1 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of PBX1 protein	20106945
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of PBX1 gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of PBX1 exon	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of PBX1 mRNA	19770486
C029753	aflatoxin B2	aflatoxin B2 results in decreased methylation of PBX1 intron	30157460
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of PBX1 intron	30157460
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of PBX1 mRNA	24449571
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite results in decreased expression of PBX1 mRNA	25351596
D001280	Atrazine	Atrazine results in increased expression of PBX1 mRNA	22378314
C547126	AZM551248	AZM551248 results in increased expression of PBX1 mRNA	22323515
C030935	benz(a)anthracene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of PBX1 mRNA	27858113
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PBX1 mRNA	26001963
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PBX1 mRNA	20106945
D001564	Benzo(a)pyrene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of PBX1 mRNA	27858113
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PBX1 mRNA	19770486
C006703	benzo(b)fluoranthene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of PBX1 mRNA	27858113
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in decreased expression of PBX1 mRNA	26377693
C006780	bisphenol A	bisphenol A results in increased expression of PBX1 mRNA	20678512; 29275510;
C006780	bisphenol A	bisphenol A affects the expression of PBX1 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of PBX1 mRNA	29097150
C018475	butyraldehyde	butyraldehyde results in decreased expression of PBX1 mRNA	26079696
D002117	Calcitriol	Calcitriol results in increased expression of PBX1 mRNA	16002434
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of PBX1 mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of PBX1 mRNA]	31150632
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in decreased expression of PBX1 mRNA	16934159
D002762	Cholecalciferol	Cholecalciferol results in increased expression of PBX1 mRNA	17170073
C031180	chrysene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of PBX1 mRNA	27858113
C031180	chrysene	chrysene results in decreased expression of PBX1 mRNA	26377693
D002945	Cisplatin	PBX1 protein affects the susceptibility to Cisplatin	16217747
D002945	Cisplatin	Cisplatin results in decreased expression of PBX1 mRNA	22023808
D003033	Coal Tar	Coal Tar results in decreased expression of PBX1 mRNA	27858113
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of PBX1 mRNA	19376846
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of PBX1 mRNA	24386269
D003042	Cocaine	Cocaine results in decreased expression of PBX1 mRNA	17898221
D003042	Cocaine	Cocaine results in increased expression of PBX1 mRNA	17898221
D003300	Copper	[NSC 689534 binds to Copper] which results in decreased expression of PBX1 mRNA	20971185
D003375	Coumestrol	[Coumestrol co-treated with Resveratrol] results in decreased expression of PBX1 mRNA	19167446
D016572	Cyclosporine	Cyclosporine results in decreased expression of PBX1 mRNA	20106945
C093628	cyproconazole	cyproconazole results in increased expression of PBX1 mRNA	22045034
D000069439	Dasatinib	Dasatinib results in increased expression of PBX1 mRNA	20579391
D000077209	Decitabine	Decitabine inhibits the reaction [Smoke results in decreased expression of PBX1 mRNA]	21095227
D000077209	Decitabine	Decitabine results in decreased expression of PBX1 mRNA	27915011
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 PBX1 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of PBX1 mRNA	29803840
D004791	Enzyme Inhibitors	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of PBX1 protein	23301498
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in decreased expression of PBX1 mRNA	30165855
D004958	Estradiol	[Progesterone co-treated with Estradiol] results in decreased expression of PBX1 mRNA	17404688
D004958	Estradiol	Estradiol results in decreased expression of PBX1 mRNA	20068009
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of PBX1 mRNA	29097150
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in decreased expression of PBX1 mRNA	23649840
D017313	Fenretinide	Fenretinide results in increased expression of PBX1 mRNA	28973697
C061365	flusilazole	flusilazole affects the expression of PBX1 mRNA	22634333
C007836	geraniol	geraniol results in decreased expression of PBX1 mRNA	27683099
C031927	hydroquinone	hydroquinone results in decreased expression of PBX1 mRNA	31256213
C041508	indeno(1,2,3-cd)pyrene	indeno(1,2,3-cd)pyrene results in decreased expression of PBX1 mRNA	26377693
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of PBX1 mRNA	28001369
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of PBX1 mRNA	28001369
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of PBX1 mRNA	23649840
C008493	methylselenic acid	methylselenic acid results in increased expression of PBX1 mRNA	18548127
D008942	Mitoxantrone	PBX1 protein affects the susceptibility to Mitoxantrone	16217747
C000622638	MLN7243	MLN7243 results in increased sumoylation of PBX1 protein	31285264
C523799	MRK 003	PBX1 results in increased susceptibility to MRK 003	19903844
D009151	Mustard Gas	Mustard Gas results in increased expression of PBX1 mRNA	15674844
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of PBX1 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of PBX1 mRNA	25554681
D009532	Nickel	Nickel results in decreased expression of PBX1 mRNA	24768652; 25583101;
C028007	nickel monoxide	nickel monoxide results in decreased expression of PBX1 mRNA	19167457
C029938	nickel sulfate	nickel sulfate results in increased expression of PBX1 mRNA	22714537
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in decreased expression of PBX1 mRNA	20971185
C410127	PCB 180	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of PBX1 mRNA	25510870
D010634	Phenobarbital	Phenobarbital affects the expression of PBX1 mRNA	23091169
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 PBX1 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of PBX1 mRNA	26272509
D010672	Phenytoin	Phenytoin results in increased expression of PBX1 mRNA	20345932
C006253	pirinixic acid	pirinixic acid results in increased expression of PBX1 mRNA	17950772; 18301758; 23811191;
C006253	pirinixic acid	PPARA protein promotes the reaction [pirinixic acid results in increased expression of PBX1 mRNA]	17950772
D010894	Piroxicam	Piroxicam results in increased expression of PBX1 mRNA	21858171
D011374	Progesterone	[Progesterone co-treated with Estradiol] results in decreased expression of PBX1 mRNA	17404688
C045950	propiconazole	propiconazole results in decreased expression of PBX1 mRNA	16730040; 21278054;
D000077185	Resveratrol	[Coumestrol co-treated with Resveratrol] results in decreased expression of PBX1 mRNA	19167446
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of PBX1 mRNA]	31150632
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of PBX1 mRNA	25351596
D012906	Smoke	Decitabine inhibits the reaction [Smoke results in decreased expression of PBX1 mRNA]	21095227
C009277	sodium arsenate	sodium arsenate affects the splicing of PBX1 mRNA	27751817
C009277	sodium arsenate	sodium arsenate results in increased expression of PBX1 mRNA	21795629
C017947	sodium arsenite	sodium arsenite results in increased expression of PBX1 mRNA	12760830; 22714537; 29301061;
D000077210	Sunitinib	Sunitinib results in decreased expression of PBX1 mRNA	31533062
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in decreased expression of PBX1 mRNA	15336504
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PBX1 mRNA	21570461; 24058054; 24680724;
D013853	Thioacetamide	Thioacetamide results in decreased expression of PBX1 mRNA	23411599
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of PBX1 mRNA	28065790; 30291989;
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of PBX1 mRNA	20133372
D014212	Tretinoin	Tretinoin results in increased expression of PBX1 mRNA	21934132; 23830798;
D014212	Tretinoin	Tretinoin affects the expression of PBX1 mRNA	22262565
C015559	trimellitic anhydride	trimellitic anhydride results in decreased expression of PBX1 mRNA	19042947
D014635	Valproic Acid	Valproic Acid results in decreased expression of PBX1 mRNA	23527032; 24935251; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased expression of PBX1 mRNA	23179753
D014635	Valproic Acid	Valproic Acid results in increased expression of PBX1 mRNA	22045034
D014635	Valproic Acid	Valproic Acid affects the splicing of PBX1 mRNA	29427782
D014638	Vanadates	Vanadates results in increased expression of PBX1 mRNA	22714537

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0010	Activator
KW-0025	Alternative splicing
KW-0160	Chromosomal rearrangement
KW-0217	Developmental protein
KW-0221	Differentiation
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-0371	Homeobox
KW-0539	Nucleus
KW-0621	Polymorphism
KW-0656	Proto-oncogene
KW-1185	Reference proteome
KW-0678	Repressor
KW-0726	Sexual differentiation
KW-0755	Steroidogenesis
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR009057	Homeobox-like_sf
IPR017970	Homeobox_CS
IPR001356	Homeobox_dom
IPR005542	PBX

PROSITE

PROSITE ID	PROSITE Term
PS00027	HOMEOBOX_1
PS50071	HOMEOBOX_2

Pfam

Pfam ID	Pfam Term
PF00046	Homeodomain
PF03792	PBC

Gene: PBX1

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