CleftGeneDB-Search

Gene: PAX9

Basic information

Tag	Content
Uniprot ID	P55771; Q99582; Q9UQR4;
Entrez ID	5083
Genbank protein ID	CAB41533.1; AAH01159.1; CAA63436.1;
Genbank nucleotide ID	NM_006194.3
Ensembl protein ID	ENSP00000384817; ENSP00000355245;
Ensembl nucleotide ID	ENSG00000198807
Gene name	Paired box protein Pax-9
Gene symbol	PAX9
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CPO,CL/P
Developmental stage
Data sources	Manually collected
Reference	22976623; 26602496; 24697712; 16247549; 23921572;
Functional description	Transcription factor required for normal development of thymus, parathyroid glands, ultimobranchial bodies, teeth, skeletal elements of skull and larynx as well as distal limbs.
Sequence	MEPAFGEVNQ LGGVFVNGRP LPNAIRLRIV ELAQLGIRPC DISRQLRVSH GCVSKILARY 60 NETGSILPGA IGGSKPRVTT PTVVKHIRTY KQRDPGIFAW EIRDRLLADG VCDKYNVPSV 120 SSISRILRNK IGNLAQQGHY DSYKQHQPTP QPALPYNHIY SYPSPITAAA AKVPTPPGVP 180 AIPGSVAMPR TWPSSHSVTD ILGIRSITDQ VSDSSPYHSP KVEEWSSLGR NNFPAAAPHA 240 VNGLEKGALE QEAKYGQAPN GLPAVGSFVS ASSMAPYPTP AQVSPYMTYS AAPSGYVAGH 300 GWQHAGGTSL SPHNCDIPAS LAFKGMQAAR EGSHSVTASA L 341

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	PAX9	540196	F1MFP5			Bos taurus	Prediction	More>>
1:1 ortholog	PAX9	102171104	A0A452EZP5			Capra hircus	Prediction	More>>
1:1 ortholog	PAX9	5083	P55771	CPO,CL/P		Homo sapiens	Publication	More>>
1:1 ortholog	Pax9	18511	P47242	CPO,CLP	E14.5	Mus musculus	Publication	More>>
1:1 ortholog	PAX9	737458	Q2VL62			Pan troglodytes	Prediction	More>>
1:1 ortholog	PAX9	100156821	A0A480DYY0			Sus scrofa	Prediction	More>>
1:1 ortholog	Pax9		R9PXT8			Rattus norvegicus	Prediction	More>>
1:1 ortholog	pax9	30558	Q98865			Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
PAX9	rs17104928G>A	Genotyping; TDT	22976623
PAX9	rs730643A>G	GWAS	31609978
PAX9	rs2415363C>A	GWAS	31609978
PAX9	rs60708031G>T	GWAS	31609978
PAX9	rs17176643C>A	Genotyping	23921572
PAX9	rs12885612T>C	Sanger sequencing	32679372
PAX9	rs12881248G>A	Sanger sequencing	32679372
PAX9	c.640A>G ;p.S214G	Genotyping and TDT	16247549
PAX9	rs2073242	Genotyping	24697712
PAX9	rs1955734*T	Genotyping	26602496

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1418777481	p.Ala4Asp	missense variant	-	NC_000014.9:g.36662903C>A	gnomAD
COSM6140619	p.Phe5Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36662907C>A	NCI-TCGA Cosmic
rs530304091	p.Val8Gly	missense variant	-	NC_000014.9:g.36662915T>G	1000Genomes
rs1468664204	p.Asn9Asp	missense variant	-	NC_000014.9:g.36662917A>G	gnomAD
rs146561842	p.Gln10His	missense variant	-	NC_000014.9:g.36662922G>C	ESP,ExAC,TOPMed,gnomAD
rs1373680338	p.Gln10Lys	missense variant	-	NC_000014.9:g.36662920C>A	TOPMed
rs770506286	p.Val14Met	missense variant	-	NC_000014.9:g.36662932G>A	ExAC,TOPMed,gnomAD
rs1247129323	p.Gly18Trp	missense variant	-	NC_000014.9:g.36662944G>T	TOPMed,gnomAD
RCV000656432	p.Pro20Leu	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36662951C>T	ClinVar
rs1555316697	p.Pro20Leu	missense variant	-	NC_000014.9:g.36662951C>T	-
NCI-TCGA novel	p.Leu21Met	missense variant	-	NC_000014.9:g.36662953C>A	NCI-TCGA
rs28933970	p.Leu21Pro	missense variant	-	NC_000014.9:g.36662954T>C	-
RCV000014781	p.Leu21Pro	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36662954T>C	ClinVar
rs1302711614	p.Asn23Lys	missense variant	-	NC_000014.9:g.36662961C>A	TOPMed,gnomAD
rs1219499046	p.Asn23Ser	missense variant	-	NC_000014.9:g.36662960A>G	gnomAD
rs1158167937	p.Ala24Gly	missense variant	-	NC_000014.9:g.36662963C>G	gnomAD
rs775325094	p.Ala24Ser	missense variant	-	NC_000014.9:g.36662962G>T	ExAC,gnomAD
rs775325094	p.Ala24Thr	missense variant	-	NC_000014.9:g.36662962G>A	ExAC,gnomAD
rs28933972	p.Arg26Trp	missense variant	-	NC_000014.9:g.36662968C>T	-
RCV000014784	p.Arg26Trp	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36662968C>T	ClinVar
RCV000014783	p.Arg28Pro	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36662975G>C	ClinVar
rs28933971	p.Arg28Pro	missense variant	-	NC_000014.9:g.36662975G>C	-
NCI-TCGA novel	p.Gln34Arg	missense variant	-	NC_000014.9:g.36662993A>G	NCI-TCGA
COSM4050721	p.Gln34Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.36662992C>T	NCI-TCGA Cosmic
rs1234482564	p.Leu35Val	missense variant	-	NC_000014.9:g.36662995C>G	TOPMed
rs1406085818	p.Gly36Arg	missense variant	-	NC_000014.9:g.36662998G>C	gnomAD
rs776496826	p.Ile37Thr	missense variant	-	NC_000014.9:g.36663002T>C	ExAC,gnomAD
rs1196510076	p.Ile37Leu	missense variant	-	NC_000014.9:g.36663001A>C	gnomAD
rs763028737	p.Arg38Ter	stop gained	-	NC_000014.9:g.36663004C>T	ExAC,TOPMed,gnomAD
rs1192028741	p.Pro39Leu	missense variant	-	NC_000014.9:g.36663008C>T	gnomAD
RCV000478656	p.Cys40Ter	frameshift	-	NC_000014.9:g.36663006_36663009dup	ClinVar
rs1424964137	p.Gln45Arg	missense variant	-	NC_000014.9:g.36663026A>G	gnomAD
rs1485081477	p.Gln45His	missense variant	-	NC_000014.9:g.36663027G>T	TOPMed
NCI-TCGA novel	p.Arg47Gln	missense variant	-	NC_000014.9:g.36663032G>A	NCI-TCGA
rs121917720	p.Arg47Trp	missense variant	-	NC_000014.9:g.36663031C>T	-
RCV000014791	p.Arg47Trp	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36663031C>T	ClinVar
COSM4050723	p.Val48Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36663035T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser49Leu	missense variant	-	NC_000014.9:g.36663038C>T	NCI-TCGA
rs104894469	p.Gly51Cys	missense variant	-	NC_000014.9:g.36663043G>T	gnomAD
RCV000014789	p.Gly51Ser	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36663043G>A	ClinVar
rs104894469	p.Gly51Ser	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36663043G>A	UniProt,dbSNP
VAR_015698	p.Gly51Ser	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36663043G>A	UniProt
rs104894469	p.Gly51Ser	missense variant	-	NC_000014.9:g.36663043G>A	gnomAD
NCI-TCGA novel	p.Cys52Ser	missense variant	-	NC_000014.9:g.36663046T>A	NCI-TCGA
NCI-TCGA novel	p.Lys55GlyPheSerTerUnkUnkUnk	frameshift	-	NC_000014.9:g.36663054_36663061CAAGATCC>-	NCI-TCGA
rs1035361992	p.Ile56Val	missense variant	-	NC_000014.9:g.36663058A>G	TOPMed
rs1312345937	p.Ala58Thr	missense variant	-	NC_000014.9:g.36663064G>A	TOPMed
rs1284027470	p.Ala58Val	missense variant	-	NC_000014.9:g.36663065C>T	TOPMed
NCI-TCGA novel	p.Arg59Ter	stop gained	-	NC_000014.9:g.36663067C>T	NCI-TCGA
RCV000631386	p.Tyr60Ter	nonsense	Partial congenital absence of teeth	NC_000014.9:g.36663072C>A	ClinVar
rs1555316704	p.Tyr60Ter	stop gained	-	NC_000014.9:g.36663072C>A	-
COSM4050725	p.Tyr60His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36663070T>C	NCI-TCGA Cosmic
rs1222366464	p.Asn61Lys	missense variant	-	NC_000014.9:g.36663075C>A	gnomAD
rs778437280	p.Glu62Gln	missense variant	-	NC_000014.9:g.36663076G>C	ExAC,gnomAD
rs778437280	p.Glu62Lys	missense variant	-	NC_000014.9:g.36663076G>A	ExAC,gnomAD
rs1319882418	p.Glu62Asp	missense variant	-	NC_000014.9:g.36663078G>C	gnomAD
rs749743496	p.Thr63Arg	missense variant	-	NC_000014.9:g.36663080C>G	ExAC,TOPMed
RCV000623787	p.Thr63Arg	missense variant	Inborn genetic diseases	NC_000014.9:g.36663080C>G	ClinVar
COSM4050726	p.Gly64Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36663082G>A	NCI-TCGA Cosmic
rs916637723	p.Ala70Ser	missense variant	-	NC_000014.9:g.36663100G>T	TOPMed,gnomAD
RCV000622623	p.Gly73Cys	missense variant	Inborn genetic diseases	NC_000014.9:g.36663109G>T	ClinVar
rs1264059790	p.Gly73Val	missense variant	-	NC_000014.9:g.36663110G>T	gnomAD
rs1555316711	p.Gly73Cys	missense variant	-	NC_000014.9:g.36663109G>T	-
rs1406324571	p.Arg77Trp	missense variant	-	NC_000014.9:g.36663121C>T	gnomAD
COSM1369732	p.Thr80Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36663131C>T	NCI-TCGA Cosmic
rs1363313388	p.Pro81Ser	missense variant	-	NC_000014.9:g.36663133C>T	gnomAD
COSM5504041	p.Thr82Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36663136A>T	NCI-TCGA Cosmic
rs1298237496	p.Val83Met	missense variant	-	NC_000014.9:g.36663139G>A	gnomAD
COSM4398245	p.His86Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36663149A>C	NCI-TCGA Cosmic
RCV000704798	p.Ile87Phe	missense variant	Partial congenital absence of teeth	NC_000014.9:g.36663151A>T	ClinVar
rs1428496379	p.Arg88Gln	missense variant	-	NC_000014.9:g.36663155G>A	gnomAD
rs1269537934	p.Tyr90Cys	missense variant	-	NC_000014.9:g.36663161A>G	gnomAD
RCV000530457	p.Lys91Glu	missense variant	Partial congenital absence of teeth	NC_000014.9:g.36663163A>G	ClinVar
rs28933373	p.Lys91Glu	missense variant	-	NC_000014.9:g.36663163A>G	gnomAD
rs979569485	p.Lys91Arg	missense variant	-	NC_000014.9:g.36663164A>G	TOPMed,gnomAD
rs761722767	p.Gln92Lys	missense variant	-	NC_000014.9:g.36663166C>A	ExAC,gnomAD
rs766415264	p.Asp94Glu	missense variant	-	NC_000014.9:g.36663174C>A	ExAC,gnomAD
RCV000280795	p.Ile97Leu	missense variant	-	NC_000014.9:g.36663181A>C	ClinVar
rs886050492	p.Ile97Leu	missense variant	-	NC_000014.9:g.36663181A>C	-
rs1441977733	p.Ala99Val	missense variant	-	NC_000014.9:g.36663188C>T	gnomAD
rs759490130	p.Ala99Ser	missense variant	-	NC_000014.9:g.36663187G>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu101Lys	missense variant	-	NC_000014.9:g.36663193G>A	NCI-TCGA
rs752908209	p.Arg105Leu	missense variant	-	NC_000014.9:g.36663206G>T	ExAC,gnomAD
rs752908209	p.Arg105His	missense variant	-	NC_000014.9:g.36663206G>A	ExAC,gnomAD
rs748361932	p.Ala108Val	missense variant	-	NC_000014.9:g.36663215C>T	gnomAD
rs1383818528	p.Asp109Glu	missense variant	-	NC_000014.9:g.36663219C>G	gnomAD
rs1051322345	p.Gly110Asp	missense variant	-	NC_000014.9:g.36663221G>A	TOPMed
RCV000413232	p.Val111Ter	frameshift	-	NC_000014.9:g.36663217_36663223dup	ClinVar
RCV000144943	p.Cys112Trp	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36663228C>G	ClinVar
rs587776350	p.Cys112Trp	missense variant	-	NC_000014.9:g.36663228C>G	-
rs1277360021	p.Cys112Phe	missense variant	-	NC_000014.9:g.36663227G>T	gnomAD
rs375546483	p.Asp113His	missense variant	-	NC_000014.9:g.36663229G>C	ESP,ExAC,TOPMed,gnomAD
rs375546483	p.Asp113Asn	missense variant	-	NC_000014.9:g.36663229G>A	ESP,ExAC,TOPMed,gnomAD
rs104894467	p.Lys114Ter	stop gained	-	NC_000014.9:g.36663232A>T	ExAC,TOPMed,gnomAD
RCV000014778	p.Lys114Ter	nonsense	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36663232A>T	ClinVar
rs104894467	p.Lys114Gln	missense variant	-	NC_000014.9:g.36663232A>C	ExAC,TOPMed,gnomAD
rs779248666	p.Tyr115His	missense variant	-	NC_000014.9:g.36663235T>C	ExAC,TOPMed,gnomAD
rs1398460057	p.Asn116His	missense variant	-	NC_000014.9:g.36663238A>C	gnomAD
rs915914943	p.Asn116Thr	missense variant	-	NC_000014.9:g.36663239A>C	TOPMed,gnomAD
COSM4392360	p.Asn116Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36663239A>G	NCI-TCGA Cosmic
rs779689583	p.Val120Met	missense variant	-	NC_000014.9:g.36663250G>A	ExAC,TOPMed,gnomAD
rs746663945	p.Ile123Val	missense variant	-	NC_000014.9:g.36663259A>G	ExAC,gnomAD
rs768500570	p.Ser124Gly	missense variant	-	NC_000014.9:g.36663262A>G	ExAC,gnomAD
rs1353191222	p.Ile126Thr	missense variant	-	NC_000014.9:g.36663269T>C	gnomAD
rs780940855	p.Arg128Ser	missense variant	-	NC_000014.9:g.36663274C>A	ExAC,gnomAD
rs780940855	p.Arg128Cys	missense variant	-	NC_000014.9:g.36663274C>T	ExAC,gnomAD
rs769798510	p.Asn129Lys	missense variant	-	NC_000014.9:g.36663279C>A	ExAC,gnomAD
rs1396627161	p.Lys130Arg	missense variant	-	NC_000014.9:g.36663281A>G	TOPMed
rs772970706	p.Ile131Met	missense variant	-	NC_000014.9:g.36663285C>G	ExAC,gnomAD
rs1241635384	p.Gly132Cys	missense variant	-	NC_000014.9:g.36663286G>T	gnomAD
rs771977086	p.Asn133Ser	missense variant	-	NC_000014.9:g.36663290A>G	ExAC,TOPMed,gnomAD
rs775918897	p.Leu134Phe	missense variant	-	NC_000014.9:g.36663294G>T	ExAC,TOPMed,gnomAD
rs760959243	p.Ala135Thr	missense variant	-	NC_000014.9:g.36663295G>A	ExAC,gnomAD
rs1433127643	p.Ala135Gly	missense variant	-	NC_000014.9:g.36663296C>G	TOPMed
rs764595344	p.Gln137Ter	stop gained	-	NC_000014.9:g.36663301C>T	ExAC,gnomAD
rs1390634538	p.Gln137Pro	missense variant	-	NC_000014.9:g.36663302A>C	TOPMed
NCI-TCGA novel	p.His139Asn	missense variant	-	NC_000014.9:g.36663307C>A	NCI-TCGA
rs754287422	p.His139Arg	missense variant	-	NC_000014.9:g.36663308A>G	ExAC,gnomAD
rs1320971893	p.Ser142Thr	missense variant	-	NC_000014.9:g.36663316T>A	TOPMed
rs139008563	p.Tyr143Cys	missense variant	-	NC_000014.9:g.36663320A>G	ESP,ExAC,TOPMed,gnomAD
rs1402348460	p.Tyr143His	missense variant	-	NC_000014.9:g.36663319T>C	gnomAD
NCI-TCGA novel	p.His146Gln	missense variant	-	NC_000014.9:g.36663330C>A	NCI-TCGA
rs765791266	p.His146Asp	missense variant	-	NC_000014.9:g.36663328C>G	ExAC,gnomAD
rs757996388	p.His146Gln	missense variant	-	NC_000014.9:g.36663330C>G	ExAC,gnomAD
rs750832505	p.His146Pro	missense variant	-	NC_000014.9:g.36663329A>C	ExAC,gnomAD
rs369478673	p.Gln147Arg	missense variant	-	NC_000014.9:g.36663332A>G	ESP,TOPMed
rs1337728121	p.Gln147Lys	missense variant	-	NC_000014.9:g.36663331C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Pro148Ser	missense variant	-	NC_000014.9:g.36663334C>T	NCI-TCGA
rs974072582	p.Pro148Gln	missense variant	-	NC_000014.9:g.36663335C>A	TOPMed,gnomAD
rs974072582	p.Pro148Leu	missense variant	-	NC_000014.9:g.36663335C>T	TOPMed,gnomAD
rs1215426320	p.Thr149Met	missense variant	-	NC_000014.9:g.36663338C>T	gnomAD
rs1436963184	p.Pro150Arg	missense variant	-	NC_000014.9:g.36663341C>G	TOPMed,gnomAD
COSM4711371	p.Pro150Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36663341C>T	NCI-TCGA Cosmic
rs1261824175	p.Gln151Lys	missense variant	-	NC_000014.9:g.36663343C>A	gnomAD
rs779529500	p.Pro152Ser	missense variant	-	NC_000014.9:g.36663346C>T	ExAC,TOPMed,gnomAD
rs773508045	p.Ala153Val	missense variant	-	NC_000014.9:g.36663350C>T	ExAC,TOPMed,gnomAD
rs773508045	p.Ala153Glu	missense variant	-	NC_000014.9:g.36663350C>A	ExAC,TOPMed,gnomAD
rs747994128	p.Pro155Ala	missense variant	-	NC_000014.9:g.36663355C>G	ExAC,gnomAD
RCV000623432	p.Tyr156Ter	frameshift	Inborn genetic diseases	NC_000014.9:g.36663356_36663357dup	ClinVar
rs769417655	p.His158Arg	missense variant	-	NC_000014.9:g.36663365A>G	ExAC,gnomAD
rs1275548945	p.Ile159Val	missense variant	-	NC_000014.9:g.36663367A>G	TOPMed
rs1428500752	p.Ile159Asn	missense variant	-	NC_000014.9:g.36663368T>A	gnomAD
NCI-TCGA novel	p.Tyr160Ter	stop gained	-	NC_000014.9:g.36663372C>A	NCI-TCGA
rs1246127494	p.Tyr160His	missense variant	-	NC_000014.9:g.36663370T>C	TOPMed
NCI-TCGA novel	p.Pro165Leu	missense variant	-	NC_000014.9:g.36663386C>T	NCI-TCGA
rs1417181500	p.Pro165Arg	missense variant	-	NC_000014.9:g.36663386C>G	gnomAD
COSM697886	p.Ile166Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36663388A>G	NCI-TCGA Cosmic
rs769021972	p.Thr167Lys	missense variant	-	NC_000014.9:g.36663392C>A	ExAC,gnomAD
rs1459944015	p.Ala169Ser	missense variant	-	NC_000014.9:g.36663397G>T	gnomAD
rs1323425581	p.Ala169Gly	missense variant	-	NC_000014.9:g.36663398C>G	TOPMed,gnomAD
rs1323425581	p.Ala169Val	missense variant	-	NC_000014.9:g.36663398C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ala170Val	missense variant	-	NC_000014.9:g.36663401C>T	NCI-TCGA
RCV000317164	p.Ala171Thr	missense variant	-	NC_000014.9:g.36663403G>A	ClinVar
rs143020311	p.Ala171Thr	missense variant	-	NC_000014.9:g.36663403G>A	ESP,ExAC,TOPMed,gnomAD
COSM469946	p.Ala171Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36663404C>T	NCI-TCGA Cosmic
rs763349761	p.Lys172Gln	missense variant	-	NC_000014.9:g.36663406A>C	ExAC,TOPMed,gnomAD
RCV000286437	p.Thr175Met	missense variant	-	NC_000014.9:g.36663416C>T	ClinVar
rs370909756	p.Thr175Met	missense variant	-	NC_000014.9:g.36663416C>T	ESP,ExAC,TOPMed,gnomAD
rs767167192	p.Pro176Thr	missense variant	-	NC_000014.9:g.36663418C>A	ExAC,TOPMed,gnomAD
rs767167192	p.Pro176Ser	missense variant	-	NC_000014.9:g.36663418C>T	ExAC,TOPMed,gnomAD
rs752223751	p.Pro177Leu	missense variant	-	NC_000014.9:g.36663422C>T	ExAC,gnomAD
rs1327319164	p.Gly178Arg	missense variant	-	NC_000014.9:g.36663424G>A	gnomAD
rs1355919130	p.Gly178Ala	missense variant	-	NC_000014.9:g.36663425G>C	TOPMed,gnomAD
rs376393242	p.Val179Met	missense variant	-	NC_000014.9:g.36663427G>A	ESP,ExAC,TOPMed,gnomAD
rs376393242	p.Val179Leu	missense variant	-	NC_000014.9:g.36663427G>T	ESP,ExAC,TOPMed,gnomAD
rs757294221	p.Pro180Ser	missense variant	-	NC_000014.9:g.36663430C>T	ExAC,gnomAD
rs778946289	p.Gly184Ser	missense variant	-	NC_000014.9:g.36663442G>A	ExAC,gnomAD
rs370477014	p.Ser185Trp	missense variant	-	NC_000014.9:g.36663446C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala187Val	missense variant	-	NC_000014.9:g.36663452C>T	NCI-TCGA
rs554969436	p.Ala187Thr	missense variant	-	NC_000014.9:g.36663451G>A	1000Genomes,TOPMed,gnomAD
rs776983499	p.Met188Val	missense variant	-	NC_000014.9:g.36663454A>G	ExAC,TOPMed,gnomAD
rs1298394734	p.Pro189Ser	missense variant	-	NC_000014.9:g.36663457C>T	gnomAD
rs368669343	p.Arg190Leu	missense variant	-	NC_000014.9:g.36663461G>T	ESP,ExAC,TOPMed,gnomAD
rs368669343	p.Arg190His	missense variant	-	NC_000014.9:g.36663461G>A	ESP,ExAC,TOPMed,gnomAD
rs763261408	p.Thr191Ala	missense variant	-	NC_000014.9:g.36663463A>G	ExAC,gnomAD
rs766889588	p.Trp192Arg	missense variant	-	NC_000014.9:g.36663466T>C	ExAC,TOPMed,gnomAD
rs956843855	p.Trp192Ser	missense variant	-	NC_000014.9:g.36663467G>C	TOPMed,gnomAD
rs774778386	p.Pro193Ala	missense variant	-	NC_000014.9:g.36663469C>G	ExAC,gnomAD
rs371143144	p.Ser195Leu	missense variant	-	NC_000014.9:g.36663476C>T	ESP,ExAC,TOPMed,gnomAD
rs767010050	p.His196Tyr	missense variant	-	NC_000014.9:g.36663478C>T	ExAC,gnomAD
rs987375990	p.Ser197Pro	missense variant	-	NC_000014.9:g.36663481T>C	TOPMed
NCI-TCGA novel	p.Val198Ile	missense variant	-	NC_000014.9:g.36663484G>A	NCI-TCGA
NCI-TCGA novel	p.Asp200Gly	missense variant	-	NC_000014.9:g.36663491A>G	NCI-TCGA
rs1161932041	p.Asp200His	missense variant	-	NC_000014.9:g.36663490G>C	TOPMed,gnomAD
rs1161932041	p.Asp200Asn	missense variant	-	NC_000014.9:g.36663490G>A	TOPMed,gnomAD
rs1161932041	p.Asp200Tyr	missense variant	-	NC_000014.9:g.36663490G>T	TOPMed,gnomAD
rs1370600054	p.Ile201Leu	missense variant	-	NC_000014.9:g.36663493A>C	TOPMed
COSM1369736	p.Leu202Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36663496C>A	NCI-TCGA Cosmic
rs757061208	p.Gly203Cys	missense variant	-	NC_000014.9:g.36663499G>T	ExAC,TOPMed,gnomAD
rs757061208	p.Gly203Ser	missense variant	-	NC_000014.9:g.36663499G>A	ExAC,TOPMed,gnomAD
rs1382192095	p.Gly203Val	missense variant	-	NC_000014.9:g.36663500G>T	gnomAD
rs374534090	p.Arg205Pro	missense variant	-	NC_000014.9:g.36663506G>C	ESP,ExAC,TOPMed,gnomAD
rs374534090	p.Arg205Leu	missense variant	-	NC_000014.9:g.36663506G>T	ESP,ExAC,TOPMed,gnomAD
rs374534090	p.Arg205His	missense variant	-	NC_000014.9:g.36663506G>A	ESP,ExAC,TOPMed,gnomAD
rs755171552	p.Arg205Cys	missense variant	-	NC_000014.9:g.36663505C>T	ExAC,gnomAD
rs748445890	p.Ile207Val	missense variant	-	NC_000014.9:g.36663511A>G	ExAC,TOPMed,gnomAD
rs1354058584	p.Ile207Asn	missense variant	-	NC_000014.9:g.36663512T>A	gnomAD
RCV000533935	p.Thr208Ser	missense variant	Partial congenital absence of teeth	NC_000014.9:g.36663515C>G	ClinVar
rs116676854	p.Thr208Asn	missense variant	-	NC_000014.9:g.36663515C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs116676854	p.Thr208Ser	missense variant	-	NC_000014.9:g.36663515C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1257119692	p.Asp209Glu	missense variant	-	NC_000014.9:g.36663519C>A	gnomAD
rs749662886	p.Asp209His	missense variant	-	NC_000014.9:g.36663517G>C	ExAC,TOPMed,gnomAD
rs910966729	p.Ser212Arg	missense variant	-	NC_000014.9:g.36666466C>A	TOPMed,gnomAD
COSM4050730	p.Ser212Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36666465G>A	NCI-TCGA Cosmic
rs375436662	p.Ser214Gly	missense variant	-	NC_000014.9:g.36666470A>G	ExAC,TOPMed,gnomAD
rs1258408690	p.Ser214Ile	missense variant	-	NC_000014.9:g.36666471G>T	TOPMed,gnomAD
rs1206808645	p.Ser215Phe	missense variant	-	NC_000014.9:g.36666474C>T	TOPMed,gnomAD
rs751443373	p.Pro216Leu	missense variant	-	NC_000014.9:g.36666477C>T	ExAC,TOPMed,gnomAD
rs1271193210	p.His218Tyr	missense variant	-	NC_000014.9:g.36666482C>T	gnomAD
rs756212377	p.His218Arg	missense variant	-	NC_000014.9:g.36666483A>G	ExAC,TOPMed,gnomAD
rs777895216	p.Ser219Asn	missense variant	-	NC_000014.9:g.36666486G>A	ExAC,TOPMed,gnomAD
rs757438363	p.Pro220Ser	missense variant	-	NC_000014.9:g.36666488C>T	ExAC,gnomAD
rs779059411	p.Lys221Arg	missense variant	-	NC_000014.9:g.36666492A>G	ExAC,gnomAD
rs779059411	p.Lys221Thr	missense variant	-	NC_000014.9:g.36666492A>C	ExAC,gnomAD
rs746246932	p.Glu223Asp	missense variant	-	NC_000014.9:g.36666499G>C	ExAC,gnomAD
rs199777734	p.Ser227Arg	missense variant	-	NC_000014.9:g.36666509A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1343116306	p.Ser227Arg	missense variant	-	NC_000014.9:g.36666511C>G	gnomAD
rs1441276453	p.Ser227Thr	missense variant	-	NC_000014.9:g.36666510G>C	TOPMed
rs780494094	p.Leu228Pro	missense variant	-	NC_000014.9:g.36666513T>C	ExAC,TOPMed,gnomAD
rs896951220	p.Gly229Asp	missense variant	-	NC_000014.9:g.36666516G>A	TOPMed,gnomAD
rs768103405	p.Gly229Arg	missense variant	-	NC_000014.9:g.36666515G>C	ExAC,gnomAD
rs776254475	p.Arg230Gly	missense variant	-	NC_000014.9:g.36666518C>G	ExAC,gnomAD
rs776254475	p.Arg230Ser	missense variant	-	NC_000014.9:g.36666518C>A	ExAC,gnomAD
rs776254475	p.Arg230Cys	missense variant	-	NC_000014.9:g.36666518C>T	ExAC,gnomAD
rs368787836	p.Arg230Leu	missense variant	-	NC_000014.9:g.36666519G>T	ESP,ExAC,TOPMed,gnomAD
rs368787836	p.Arg230His	missense variant	-	NC_000014.9:g.36666519G>A	ESP,ExAC,TOPMed,gnomAD
rs200733091	p.Phe233Leu	missense variant	-	NC_000014.9:g.36666527T>C	ESP,ExAC,TOPMed,gnomAD
rs1199249859	p.Pro234Leu	missense variant	-	NC_000014.9:g.36666531C>T	gnomAD
rs1425488171	p.Ala235Thr	missense variant	-	NC_000014.9:g.36666533G>A	TOPMed
rs759493655	p.Pro238Gln	missense variant	-	NC_000014.9:g.36666543C>A	ExAC,TOPMed,gnomAD
rs774212071	p.Pro238Thr	missense variant	-	NC_000014.9:g.36666542C>A	ExAC
rs759493655	p.Pro238Arg	missense variant	-	NC_000014.9:g.36666543C>G	ExAC,TOPMed,gnomAD
rs1165096156	p.His239Asn	missense variant	-	NC_000014.9:g.36666545C>A	TOPMed,gnomAD
rs12881240	p.His239Gln	missense variant	-	NC_000014.9:g.36666547C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1165096156	p.His239Tyr	missense variant	-	NC_000014.9:g.36666545C>T	TOPMed,gnomAD
RCV000600885	p.Ala240Pro	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36666548G>C	ClinVar
RCV000247763	p.Ala240Pro	missense variant	-	NC_000014.9:g.36666548G>C	ClinVar
rs529235901	p.Ala240Val	missense variant	-	NC_000014.9:g.36666549C>T	1000Genomes,ExAC,gnomAD
rs4904210	p.Ala240Pro	missense variant	-	NC_000014.9:g.36666548G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750655844	p.Val241Met	missense variant	-	NC_000014.9:g.36666551G>A	ExAC
rs1055255967	p.Asn242Lys	missense variant	-	NC_000014.9:g.36666556C>G	TOPMed
rs1428602414	p.Gly243Trp	missense variant	-	NC_000014.9:g.36666557G>T	gnomAD
rs1269338640	p.Glu245Gln	missense variant	-	NC_000014.9:g.36666563G>C	gnomAD
rs1246917136	p.Gly247Arg	missense variant	-	NC_000014.9:g.36666569G>A	gnomAD
rs1357648227	p.Ala248Pro	missense variant	-	NC_000014.9:g.36666572G>C	gnomAD
rs1311113788	p.Ala248Val	missense variant	-	NC_000014.9:g.36666573C>T	TOPMed
rs200344655	p.Glu250Asp	missense variant	-	NC_000014.9:g.36666580G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1449195856	p.Ala253Ser	missense variant	-	NC_000014.9:g.36666587G>T	gnomAD
rs1381996308	p.Lys254Thr	missense variant	-	NC_000014.9:g.36666591A>C	TOPMed
COSM4391299	p.Lys254Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36666591A>G	NCI-TCGA Cosmic
rs1214299184	p.Tyr255Phe	missense variant	-	NC_000014.9:g.36666594A>T	gnomAD
rs145974094	p.Pro259Ser	missense variant	-	NC_000014.9:g.36676201C>T	ESP,ExAC,TOPMed,gnomAD
rs766474912	p.Gly261Ser	missense variant	-	NC_000014.9:g.36676207G>A	ExAC,TOPMed,gnomAD
rs751979591	p.Gly261Ala	missense variant	-	NC_000014.9:g.36676208G>C	ExAC,gnomAD
rs766474912	p.Gly261Cys	missense variant	-	NC_000014.9:g.36676207G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe268Leu	missense variant	-	NC_000014.9:g.36676230T>A	NCI-TCGA
NCI-TCGA novel	p.Val269Met	missense variant	-	NC_000014.9:g.36676231G>A	NCI-TCGA
rs1398880348	p.Val269Leu	missense variant	-	NC_000014.9:g.36676231G>C	gnomAD
rs1307454237	p.Ser272Cys	missense variant	-	NC_000014.9:g.36676241C>G	gnomAD
rs1408470378	p.Ser272Pro	missense variant	-	NC_000014.9:g.36676240T>C	gnomAD
rs1457710579	p.Met274Thr	missense variant	-	NC_000014.9:g.36676247T>C	TOPMed
rs1346257646	p.Met274Val	missense variant	-	NC_000014.9:g.36676246A>G	gnomAD
rs866470249	p.Pro276Ser	missense variant	-	NC_000014.9:g.36676252C>T	-
rs755333152	p.Tyr277His	missense variant	-	NC_000014.9:g.36676255T>C	ExAC,gnomAD
rs1331104175	p.Pro278Ala	missense variant	-	NC_000014.9:g.36676258C>G	gnomAD
rs1256308432	p.Ala281Asp	missense variant	-	NC_000014.9:g.36676268C>A	TOPMed
COSM3793683	p.Gln282Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.36676270C>T	NCI-TCGA Cosmic
rs748658101	p.Ser284Thr	missense variant	-	NC_000014.9:g.36676276T>A	ExAC,gnomAD
rs1435281638	p.Ser284Leu	missense variant	-	NC_000014.9:g.36676277C>T	gnomAD
rs777314709	p.Pro285Leu	missense variant	-	NC_000014.9:g.36676280C>T	ExAC,gnomAD
rs1291792613	p.Tyr286Ser	missense variant	-	NC_000014.9:g.36676283A>C	gnomAD
rs770648636	p.Met287Arg	missense variant	-	NC_000014.9:g.36676286T>G	ExAC,gnomAD
rs201709294	p.Met287Val	missense variant	-	NC_000014.9:g.36676285A>G	1000Genomes,ExAC,gnomAD
rs770648636	p.Met287Lys	missense variant	-	NC_000014.9:g.36676286T>A	ExAC,gnomAD
COSM697885	p.Met287Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36676287G>C	NCI-TCGA Cosmic
rs1220508893	p.Thr288Asn	missense variant	-	NC_000014.9:g.36676289C>A	TOPMed
rs1266569973	p.Ser290Cys	missense variant	-	NC_000014.9:g.36676294A>T	gnomAD
rs773825763	p.Ala292Thr	missense variant	-	NC_000014.9:g.36676300G>A	ExAC,gnomAD
rs745682184	p.Ala292Gly	missense variant	-	NC_000014.9:g.36676301C>G	ExAC,TOPMed,gnomAD
rs771849784	p.Pro293Ser	missense variant	-	NC_000014.9:g.36676303C>T	ExAC,gnomAD
rs760586017	p.Ser294Ala	missense variant	-	NC_000014.9:g.36676306T>G	ExAC,gnomAD
rs773374693	p.His300Leu	missense variant	-	NC_000014.9:g.36676325A>T	ExAC,TOPMed,gnomAD
rs773374693	p.His300Arg	missense variant	-	NC_000014.9:g.36676325A>G	ExAC,TOPMed,gnomAD
rs1301440769	p.Gly301Arg	missense variant	-	NC_000014.9:g.36676327G>A	TOPMed,gnomAD
rs762897043	p.Trp302Arg	missense variant	-	NC_000014.9:g.36676330T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln303Ter	stop gained	-	NC_000014.9:g.36676333C>T	NCI-TCGA
NCI-TCGA novel	p.Gly307AlaPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.36676342G>-	NCI-TCGA
rs1383311522	p.Thr308Asn	missense variant	-	NC_000014.9:g.36676349C>A	TOPMed,gnomAD
rs1383311522	p.Thr308Ile	missense variant	-	NC_000014.9:g.36676349C>T	TOPMed,gnomAD
rs766641150	p.Ser309Leu	missense variant	-	NC_000014.9:g.36676352C>T	ExAC,gnomAD
rs116602527	p.Leu310Phe	missense variant	-	NC_000014.9:g.36676356G>T	1000Genomes,TOPMed,gnomAD
rs116602527	p.Leu310Phe	missense variant	-	NC_000014.9:g.36676356G>C	1000Genomes,TOPMed,gnomAD
rs543851630	p.Leu310Trp	missense variant	-	NC_000014.9:g.36676355T>G	gnomAD
rs760041338	p.Ser311Phe	missense variant	-	NC_000014.9:g.36676358C>T	ExAC,TOPMed,gnomAD
rs751662995	p.Ser311Ala	missense variant	-	NC_000014.9:g.36676357T>G	ExAC,gnomAD
rs760041338	p.Ser311Cys	missense variant	-	NC_000014.9:g.36676358C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro312Ser	missense variant	-	NC_000014.9:g.36676360C>T	NCI-TCGA
rs1174935100	p.Pro312Arg	missense variant	-	NC_000014.9:g.36676361C>G	TOPMed
rs1243108043	p.His313Tyr	missense variant	-	NC_000014.9:g.36676363C>T	gnomAD
rs139883801	p.Ile317Phe	missense variant	-	NC_000014.9:g.36676375A>T	ESP,ExAC,TOPMed,gnomAD
rs1160799367	p.Ile317Asn	missense variant	-	NC_000014.9:g.36676376T>A	TOPMed,gnomAD
rs139883801	p.Ile317Val	missense variant	-	NC_000014.9:g.36676375A>G	ESP,ExAC,TOPMed,gnomAD
rs756657081	p.Pro318Ser	missense variant	-	NC_000014.9:g.36676378C>T	ExAC,gnomAD
rs372101496	p.Pro318Leu	missense variant	-	NC_000014.9:g.36676379C>T	ESP,ExAC,TOPMed,gnomAD
rs1460911849	p.Ala319Val	missense variant	-	NC_000014.9:g.36676382C>T	gnomAD
rs771366081	p.Ser320Trp	missense variant	-	NC_000014.9:g.36676385C>G	ExAC,TOPMed,gnomAD
rs771366081	p.Ser320Leu	missense variant	-	NC_000014.9:g.36676385C>T	ExAC,TOPMed,gnomAD
rs1446726204	p.Ala322Val	missense variant	-	NC_000014.9:g.36676391C>T	gnomAD
NCI-TCGA novel	p.Lys324Asn	missense variant	-	NC_000014.9:g.36676398G>T	NCI-TCGA
rs1041320826	p.Met326Leu	missense variant	-	NC_000014.9:g.36676402A>C	TOPMed,gnomAD
rs1041320826	p.Met326Leu	missense variant	-	NC_000014.9:g.36676402A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gln327Arg	missense variant	-	NC_000014.9:g.36676406A>G	NCI-TCGA
rs745507886	p.Gln327Ter	stop gained	-	NC_000014.9:g.36676405C>T	ExAC,gnomAD
rs1383515076	p.Ala328Val	missense variant	-	NC_000014.9:g.36676409C>T	gnomAD
rs1291143513	p.Ala328Thr	missense variant	-	NC_000014.9:g.36676408G>A	gnomAD
rs771904928	p.Ala329Thr	missense variant	-	NC_000014.9:g.36676411G>A	ExAC,TOPMed,gnomAD
rs779795962	p.Gly332Cys	missense variant	-	NC_000014.9:g.36676420G>T	ExAC,gnomAD
rs779795962	p.Gly332Ser	missense variant	-	NC_000014.9:g.36676420G>A	ExAC,gnomAD
NCI-TCGA novel	p.His334Tyr	missense variant	-	NC_000014.9:g.36676426C>T	NCI-TCGA
rs1314150744	p.His334Arg	missense variant	-	NC_000014.9:g.36676427A>G	TOPMed
rs768607356	p.Val336Ala	missense variant	-	NC_000014.9:g.36676433T>C	ExAC,TOPMed,gnomAD
rs746768464	p.Val336Leu	missense variant	-	NC_000014.9:g.36676432G>C	ExAC,TOPMed,gnomAD
rs776377834	p.Thr337Lys	missense variant	-	NC_000014.9:g.36676436C>A	ExAC,TOPMed,gnomAD
rs776377834	p.Thr337Met	missense variant	-	NC_000014.9:g.36676436C>T	ExAC,TOPMed,gnomAD
rs1317002348	p.Thr337Ala	missense variant	-	NC_000014.9:g.36676435A>G	gnomAD
rs763088741	p.Ala338Val	missense variant	-	NC_000014.9:g.36676439C>T	ExAC,gnomAD
rs1307023672	p.Ser339Ala	missense variant	-	NC_000014.9:g.36676441T>G	TOPMed
COSM6015499	p.Ser339Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36676442C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala340Thr	missense variant	-	NC_000014.9:g.36676444G>A	NCI-TCGA
COSM3814768	p.Leu341Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36676447C>G	NCI-TCGA Cosmic
rs104894468	p.Ile87Phe	missense variant	-	NC_000014.9:g.36663151A>T	-

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000846	Agenesis	disease	BEFREE
C0006826	Malignant Neoplasms	group	BEFREE
C0011168	Deglutition Disorders	group	BEFREE
C0013575	Ectodermal Dysplasia	disease	BEFREE
C0020608	Hypodontia	disease	BEFREE;ORPHANET
C0025202	melanoma	disease	BEFREE
C0025990	Micrognathism	disease	HPO
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027960	Nevus	disease	BEFREE
C0027962	Melanocytic nevus	disease	BEFREE
C0029882	Otitis Media	disease	BEFREE
C0035412	Rhabdomyosarcoma	disease	BEFREE
C0080233	Tooth Loss	phenotype	BEFREE
C0238462	Medullary carcinoma of thyroid	disease	BEFREE
C0240310	Hypoplasia of the maxilla	disease	HPO
C0240340	Microdontia (disorder)	disease	HPO
C0279626	Squamous cell carcinoma of esophagus	disease	BEFREE
C0393584	Benign Hereditary Chorea	disease	BEFREE
C0399352	Developmental absence of tooth	disease	BEFREE;LHGDN;MGD
C0596263	Carcinogenesis	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	GWASCAT;GWASDB
C1306459	Primary malignant neoplasm	group	BEFREE
C1456781	Benign melanocytic nevus	disease	BEFREE
C1611743	Familial (FPAH)	disease	BEFREE
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1970291	Tooth Agenesis, Selective, 3	disease	CLINVAR;CTD_human;UNIPROT
C2827407	Infectious Otitis Media	disease	BEFREE
C2939420	Metastatic Neoplasm	phenotype	BEFREE
C3489529	Tooth Agenesis, Familial	disease	BEFREE
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4082243	Maxillary retrognathia	phenotype	HPO
C4082304	Oligodontia	disease	BEFREE;HPO;ORPHANET
C4280611	Decreased size of teeth	phenotype	HPO
C4280612	Decreased width of tooth	phenotype	HPO
C4280619	Missing more than six teeth	phenotype	HPO
C4280640	Retrusion of upper jaw bones	phenotype	HPO
C4280641	Hypotrophic maxilla	phenotype	HPO
C4280642	Deficiency of upper jaw bones	phenotype	HPO
C4280643	Decreased projection of maxilla	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:0000977	RNA polymerase II 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:0005515	protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0007492	endoderm development	IEA
GO:0042476	odontogenesis	IEA
GO:0042481	regulation of odontogenesis	IEA
GO:0045892	negative regulation of transcription, DNA-templated	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA
GO:0060325	face morphogenesis	IEA
GO:0071363	cellular response to growth factor stimulus	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
D020106	Acrylamide	Acrylamide results in increased expression of PAX9 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of PAX9 gene	27153756
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of PAX9 mRNA	26705709
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of PAX9 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of PAX9 mRNA	26063408
C006780	bisphenol A	bisphenol A results in increased expression of PAX9 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of PAX9 mRNA	25181051
C000611646	bisphenol F	bisphenol F results in increased expression of PAX9 mRNA	30951980
D002117	Calcitriol	Calcitriol results in decreased expression of PAX9 mRNA	16002434
D004390	Chlorpyrifos	Chlorpyrifos results in decreased expression of PAX9 mRNA	21356183
D004147	Dioxins	Dioxins affects the expression of PAX9 mRNA	20463971
C074283	estradiol 3-benzoate	estradiol 3-benzoate results in decreased methylation of PAX9 promoter	27415467
D008627	Mercuric Chloride	Mercuric Chloride affects the expression of PAX9 mRNA	20353558
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of PAX9 mRNA	26011545
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of PAX9 mRNA	23608068
C009277	sodium arsenate	sodium arsenate results in increased expression of PAX9 mRNA	23922661
C017947	sodium arsenite	sodium arsenite results in increased expression of PAX9 mRNA	29301061
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PAX9 mRNA	24058054
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to PAX9 promoter]	19282623
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of PAX9 mRNA	17586704
C009495	titanium dioxide	titanium dioxide results in decreased expression of PAX9 mRNA	23557971
D014212	Tretinoin	Tretinoin results in decreased expression of PAX9 mRNA	20488242
C012589	trichostatin A	trichostatin A results in decreased expression of PAX9 mRNA	26705709
D014635	Valproic Acid	Valproic Acid results in decreased methylation of PAX9 gene	29154799
D014638	Vanadates	Vanadates results in decreased expression of PAX9 mRNA	22714537
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of PAX9 gene	25560391

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0217	Developmental protein
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-0539	Nucleus
KW-0563	Paired box
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR009057	Homeobox-like_sf
IPR043182	PAIRED_DNA_bd_dom
IPR001523	Paired_dom
IPR033204	PAX9
IPR036388	WH-like_DNA-bd_sf

PROSITE

PROSITE ID	PROSITE Term
PS00034	PAIRED_1
PS51057	PAIRED_2

Pfam

Pfam ID	Pfam Term
PF00292	PAX

Gene: PAX9

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

Identified variants/mutations related to cleft phenotype

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