CleftGeneDB-Search

Gene: ALX4

Basic information

Tag	Content
Uniprot ID	Q9H161; Q96JN7; Q9H198; Q9HAY9;
Entrez ID	60529
Genbank protein ID	AAK38835.1; BAB47417.1; AAG23961.1; CAC15120.1; CAC15060.1;
Genbank nucleotide ID	NM_021926.3
Ensembl protein ID	ENSP00000498217
Ensembl nucleotide ID	ENSG00000052850
Gene name	Homeobox protein aristaless-like 4
Gene symbol	ALX4
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development.
Sequence	MNAETCVSYC ESPAAAMDAY YSPVSQSREG SSPFRAFPGG DKFGTTFLSA AAKAQGFGDA 60 KSRARYGAGQ QDLATPLESG AGARGSFNKF QPQPSTPQPQ PPPQPQPQQQ QPQPQPPAQP 120 HLYLQRGACK TPPDGSLKLQ EGSSGHSAAL QVPCYAKESS LGEPELPPDS DTVGMDSSYL 180 SVKEAGVKGP QDRASSDLPS PLEKADSESN KGKKRRNRTT FTSYQLEELE KVFQKTHYPD 240 VYAREQLAMR TDLTEARVQV WFQNRRAKWR KRERFGQMQQ VRTHFSTAYE LPLLTRAENY 300 AQIQNPSWLG NNGAASPVPA CVVPCDPVPA CMSPHAHPPG SGASSVTDFL SVSGAGSHVG 360 QTHMGSLFGA ASLSPGLNGY ELNGEPDRKT SSIAALRMKA KEHSAAISWA T 411

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
2M0C

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	ALX4	609979	E2RLA0			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	ALX4		A0A452E379			Capra hircus	Prediction	More>>
1:1 ortholog	ALX4	60529	Q9H161			Homo sapiens	Prediction	More>>
1:1 ortholog	Alx4	11695	O35137	CPO	E14.5	Mus musculus	Publication	More>>
1:1 ortholog	ALX4		H2Q3G4			Pan troglodytes	Prediction	More>>
1:1 ortholog	ALX4		A0A287A150			Sus scrofa	Prediction	More>>
1:1 ortholog	ALX4	100347124	G1SSX0			Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Alx4	296511	D3ZEM1			Rattus norvegicus	Prediction	More>>
1:1 ortholog	alx4a	100006399	E7FGP3			Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs778621319	p.Asn2Ser	missense variant	-	NC_000011.10:g.44310058T>C	ExAC,TOPMed,gnomAD
rs1041331414	p.Ala3Val	missense variant	-	NC_000011.10:g.44310055G>A	TOPMed,gnomAD
rs559427156	p.Ala3Thr	missense variant	-	NC_000011.10:g.44310056C>T	1000Genomes,ExAC,gnomAD
rs559427156	p.Ala3Pro	missense variant	-	NC_000011.10:g.44310056C>G	1000Genomes,ExAC,gnomAD
rs764539399	p.Cys6Ter	stop gained	-	NC_000011.10:g.44310045G>T	ExAC,TOPMed,gnomAD
rs764539399	p.Cys6Trp	missense variant	-	NC_000011.10:g.44310045G>C	ExAC,TOPMed,gnomAD
rs754405082	p.Cys6Arg	missense variant	-	NC_000011.10:g.44310047A>G	ExAC,TOPMed,gnomAD
rs281865153	p.Val7Ile	missense variant	-	NC_000011.10:g.44310044C>T	ESP,ExAC,TOPMed,gnomAD
rs281865153	p.Val7Leu	missense variant	-	NC_000011.10:g.44310044C>G	ESP,ExAC,TOPMed,gnomAD
RCV000074434	p.Val7Phe	missense variant	Craniosynostosis 5, susceptibility to (CRS5)	NC_000011.10:g.44310044C>A	ClinVar
rs281865153	p.Val7Phe	missense variant	-	NC_000011.10:g.44310044C>A	ESP,ExAC,TOPMed,gnomAD
rs1403383466	p.Tyr9His	missense variant	-	NC_000011.10:g.44310038A>G	gnomAD
rs1364732070	p.Tyr9Ter	stop gained	-	NC_000011.10:g.44310036G>C	gnomAD
rs1303599226	p.Cys10Tyr	missense variant	-	NC_000011.10:g.44310034C>T	gnomAD
rs767658097	p.Cys10Ter	stop gained	-	NC_000011.10:g.44310033G>T	ExAC,TOPMed,gnomAD
rs1352693640	p.Glu11Lys	missense variant	-	NC_000011.10:g.44310032C>T	gnomAD
rs1270999638	p.Pro13Leu	missense variant	-	NC_000011.10:g.44310025G>A	gnomAD
rs1458740610	p.Pro13Ser	missense variant	-	NC_000011.10:g.44310026G>A	TOPMed
rs766486576	p.Ala15Gly	missense variant	-	NC_000011.10:g.44310019G>C	ExAC,TOPMed,gnomAD
rs1421073733	p.Ala15Ser	missense variant	-	NC_000011.10:g.44310020C>A	gnomAD
rs766486576	p.Ala15Asp	missense variant	-	NC_000011.10:g.44310019G>T	ExAC,TOPMed,gnomAD
rs1479937507	p.Ala16Val	missense variant	-	NC_000011.10:g.44310016G>A	gnomAD
rs1200602730	p.Met17Val	missense variant	-	NC_000011.10:g.44310014T>C	gnomAD
rs1489729247	p.Met17Arg	missense variant	-	NC_000011.10:g.44310013A>C	TOPMed,gnomAD
rs1489729247	p.Met17Lys	missense variant	-	NC_000011.10:g.44310013A>T	TOPMed,gnomAD
rs762975194	p.Asp18Asn	missense variant	-	NC_000011.10:g.44310011C>T	ExAC,TOPMed,gnomAD
rs1408623809	p.Asp18Val	missense variant	-	NC_000011.10:g.44310010T>A	TOPMed
rs762975194	p.Asp18Tyr	missense variant	-	NC_000011.10:g.44310011C>A	ExAC,TOPMed,gnomAD
rs931085887	p.Ala19Ser	missense variant	-	NC_000011.10:g.44310008C>A	TOPMed
rs374650044	p.Tyr21Cys	missense variant	-	NC_000011.10:g.44310001T>C	ESP,ExAC,TOPMed,gnomAD
rs949272605	p.Tyr21His	missense variant	-	NC_000011.10:g.44310002A>G	TOPMed,gnomAD
rs775495740	p.Pro23Leu	missense variant	-	NC_000011.10:g.44309995G>A	ExAC,gnomAD
rs746753665	p.Pro23Ser	missense variant	-	NC_000011.10:g.44309996G>A	ExAC,gnomAD
rs1252436146	p.Ser25Leu	missense variant	-	NC_000011.10:g.44309989G>A	TOPMed
rs748769921	p.Arg28Gln	missense variant	-	NC_000011.10:g.44309980C>T	ExAC,gnomAD
rs748769921	p.Arg28Pro	missense variant	-	NC_000011.10:g.44309980C>G	ExAC,gnomAD
rs1355757602	p.Glu29Lys	missense variant	-	NC_000011.10:g.44309978C>T	gnomAD
rs1468902552	p.Gly30Ser	missense variant	-	NC_000011.10:g.44309975C>T	gnomAD
rs370055325	p.Gly30Asp	missense variant	-	NC_000011.10:g.44309974C>T	ESP,ExAC,TOPMed,gnomAD
rs990702443	p.Ser31Thr	missense variant	-	NC_000011.10:g.44309972A>T	TOPMed
rs1435259531	p.Phe34Leu	missense variant	-	NC_000011.10:g.44309963A>G	gnomAD
rs3824915	p.Arg35Thr	missense variant	-	NC_000011.10:g.44309959C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753099218	p.Arg35Ser	missense variant	-	NC_000011.10:g.44309958C>A	ExAC,gnomAD
RCV000352665	p.Arg35Thr	missense variant	Enlarged parietal foramina	NC_000011.10:g.44309959C>G	ClinVar
rs767919976	p.Phe37Leu	missense variant	-	NC_000011.10:g.44309954A>G	ExAC,TOPMed,gnomAD
rs755162732	p.Pro38Ser	missense variant	-	NC_000011.10:g.44309951G>A	ExAC,gnomAD
rs755162732	p.Pro38Ala	missense variant	-	NC_000011.10:g.44309951G>C	ExAC,gnomAD
rs1201859491	p.Pro38His	missense variant	-	NC_000011.10:g.44309950G>T	TOPMed,gnomAD
rs1201859491	p.Pro38Leu	missense variant	-	NC_000011.10:g.44309950G>A	TOPMed,gnomAD
rs1263963839	p.Gly39Arg	missense variant	-	NC_000011.10:g.44309948C>T	TOPMed,gnomAD
rs763035360	p.Gly40Asp	missense variant	-	NC_000011.10:g.44309944C>T	ExAC,gnomAD
rs373566188	p.Asp41Asn	missense variant	-	NC_000011.10:g.44309942C>T	ESP,ExAC,TOPMed,gnomAD
rs369346595	p.Lys42Asn	missense variant	-	NC_000011.10:g.44309937C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1379024536	p.Lys42Arg	missense variant	-	NC_000011.10:g.44309938T>C	gnomAD
rs775401450	p.Gly44Ser	missense variant	-	NC_000011.10:g.44309933C>T	ExAC,gnomAD
rs775401450	p.Gly44Cys	missense variant	-	NC_000011.10:g.44309933C>A	ExAC,gnomAD
rs772029021	p.Phe47Leu	missense variant	-	NC_000011.10:g.44309922G>C	ExAC,gnomAD
rs745685096	p.Leu48Pro	missense variant	-	NC_000011.10:g.44309920A>G	ExAC,TOPMed,gnomAD
rs764877187	p.Ser49Leu	missense variant	-	NC_000011.10:g.44309917G>A	ExAC,TOPMed,gnomAD
rs374868143	p.Ala50Thr	missense variant	-	NC_000011.10:g.44309915C>T	ESP,ExAC,TOPMed,gnomAD
rs1460901603	p.Ala51Val	missense variant	-	NC_000011.10:g.44309911G>A	gnomAD
rs868625607	p.Ala52Thr	missense variant	-	NC_000011.10:g.44309909C>T	TOPMed,gnomAD
rs1485021565	p.Ala54Thr	missense variant	-	NC_000011.10:g.44309903C>T	gnomAD
rs756623127	p.Gln55Arg	missense variant	-	NC_000011.10:g.44309899T>C	ExAC,gnomAD
rs1355701882	p.Gly56Glu	missense variant	-	NC_000011.10:g.44309896C>T	gnomAD
rs1010707471	p.Phe57Cys	missense variant	-	NC_000011.10:g.44309893A>C	TOPMed
rs748695888	p.Gly58Arg	missense variant	-	NC_000011.10:g.44309891C>T	ExAC,gnomAD
rs1245205062	p.Gly58Glu	missense variant	-	NC_000011.10:g.44309890C>T	TOPMed,gnomAD
rs781687811	p.Asp59Tyr	missense variant	-	NC_000011.10:g.44309888C>A	ExAC,gnomAD
rs371338431	p.Ser62Arg	missense variant	-	NC_000011.10:g.44309877G>T	ESP,ExAC,TOPMed,gnomAD
rs372830230	p.Arg63Gln	missense variant	-	NC_000011.10:g.44309875C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372830230	p.Arg63Pro	missense variant	-	NC_000011.10:g.44309875C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000295519	p.Arg63Gln	missense variant	Enlarged parietal foramina	NC_000011.10:g.44309875C>T	ClinVar
rs865794180	p.Arg65His	missense variant	-	NC_000011.10:g.44309869C>T	gnomAD
rs1288616124	p.Arg65Cys	missense variant	-	NC_000011.10:g.44309870G>A	TOPMed,gnomAD
rs1288616124	p.Arg65Gly	missense variant	-	NC_000011.10:g.44309870G>C	TOPMed,gnomAD
rs865794180	p.Arg65Leu	missense variant	-	NC_000011.10:g.44309869C>A	gnomAD
rs1474230398	p.Gly67Ser	missense variant	-	NC_000011.10:g.44309864C>T	gnomAD
rs1162216104	p.Ala68Ser	missense variant	-	NC_000011.10:g.44309861C>A	gnomAD
rs1162216104	p.Ala68Thr	missense variant	-	NC_000011.10:g.44309861C>T	gnomAD
rs1444624260	p.Gln71Ter	stop gained	-	NC_000011.10:g.44309852G>A	gnomAD
rs1450916767	p.Thr75Ile	missense variant	-	NC_000011.10:g.44309839G>A	TOPMed,gnomAD
rs79200219	p.Pro76Thr	missense variant	-	NC_000011.10:g.44309837G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1426917397	p.Pro76Leu	missense variant	-	NC_000011.10:g.44309836G>A	TOPMed,gnomAD
rs1458033088	p.Leu77Pro	missense variant	-	NC_000011.10:g.44309833A>G	gnomAD
rs1489132797	p.Ser79Arg	missense variant	-	NC_000011.10:g.44309826A>T	gnomAD
rs1289415293	p.Gly80Glu	missense variant	-	NC_000011.10:g.44309824C>T	gnomAD
rs868679217	p.Gly85Val	missense variant	-	NC_000011.10:g.44309809C>A	TOPMed,gnomAD
rs765279140	p.Gly85Ser	missense variant	-	NC_000011.10:g.44309810C>T	ExAC,gnomAD
rs868679217	p.Gly85Asp	missense variant	-	NC_000011.10:g.44309809C>T	TOPMed,gnomAD
RCV000486693	p.Gly85Ter	frameshift	-	NC_000011.10:g.44309812del	ClinVar
rs1295821461	p.Ser86Phe	missense variant	-	NC_000011.10:g.44309806G>A	TOPMed,gnomAD
rs1295821461	p.Ser86Tyr	missense variant	-	NC_000011.10:g.44309806G>T	TOPMed,gnomAD
rs1364168524	p.Phe87Leu	missense variant	-	NC_000011.10:g.44309804A>G	TOPMed
rs1401534861	p.Asn88His	missense variant	-	NC_000011.10:g.44309801T>G	gnomAD
rs1303302097	p.Pro92Thr	missense variant	-	NC_000011.10:g.44309789G>T	TOPMed
rs1036676266	p.Pro92Arg	missense variant	-	NC_000011.10:g.44309788G>C	TOPMed,gnomAD
rs1301693385	p.Gln93Glu	missense variant	-	NC_000011.10:g.44309786G>C	gnomAD
rs760627532	p.Pro94Ser	missense variant	-	NC_000011.10:g.44309783G>A	ExAC
rs752638029	p.Pro94Gln	missense variant	-	NC_000011.10:g.44309782G>T	ExAC
RCV000348915	p.Pro94Ser	missense variant	Enlarged parietal foramina	NC_000011.10:g.44309783G>A	ClinVar
rs941831324	p.Thr96Pro	missense variant	-	NC_000011.10:g.44309777T>G	gnomAD
rs759346076	p.Gln98Lys	missense variant	-	NC_000011.10:g.44309771G>T	ExAC,TOPMed,gnomAD
rs774293144	p.Gln98His	missense variant	-	NC_000011.10:g.44309769C>A	ExAC
rs1048397060	p.Gln98Pro	missense variant	-	NC_000011.10:g.44309770T>G	TOPMed
RCV000210924	p.Gln98Ter	frameshift	Frontonasal dysplasia 2 (FND2)	NC_000011.10:g.44309772del	ClinVar
rs770611828	p.Pro99Thr	missense variant	-	NC_000011.10:g.44309768G>T	ExAC
rs762569952	p.Pro99His	missense variant	-	NC_000011.10:g.44309767G>T	ExAC
rs769148200	p.Gln100Arg	missense variant	-	NC_000011.10:g.44309764T>C	ExAC,TOPMed,gnomAD
rs772749428	p.Gln100Lys	missense variant	-	NC_000011.10:g.44309765G>T	ExAC
rs747680014	p.Pro101Arg	missense variant	-	NC_000011.10:g.44309761G>C	ExAC,gnomAD
RCV000282185	p.Pro102Ser	missense variant	Enlarged parietal foramina	NC_000011.10:g.44309759G>A	ClinVar
rs12421995	p.Pro102Ser	missense variant	-	NC_000011.10:g.44309759G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs747374643	p.Pro102Arg	missense variant	-	NC_000011.10:g.44309758G>C	ExAC,TOPMed,gnomAD
rs747374643	p.Pro102Gln	missense variant	-	NC_000011.10:g.44309758G>T	ExAC,TOPMed,gnomAD
rs747374643	p.Pro102Leu	missense variant	-	NC_000011.10:g.44309758G>A	ExAC,TOPMed,gnomAD
rs780343108	p.Gln104Glu	missense variant	-	NC_000011.10:g.44309753G>C	ExAC,gnomAD
rs758621060	p.Gln104Pro	missense variant	-	NC_000011.10:g.44309752T>G	ExAC,TOPMed,gnomAD
rs750648485	p.Pro105Gln	missense variant	-	NC_000011.10:g.44309749G>T	ExAC,TOPMed,gnomAD
rs750648485	p.Pro105Leu	missense variant	-	NC_000011.10:g.44309749G>A	ExAC,TOPMed,gnomAD
rs1332085438	p.Gln106Pro	missense variant	-	NC_000011.10:g.44309746T>G	TOPMed,gnomAD
rs1387705323	p.Pro107Arg	missense variant	-	NC_000011.10:g.44309743G>C	TOPMed
rs1390237266	p.Pro107Ser	missense variant	-	NC_000011.10:g.44309744G>A	gnomAD
rs1171498265	p.Gln108Ter	stop gained	-	NC_000011.10:g.44309741G>A	gnomAD
rs767495097	p.Gln109Pro	missense variant	-	NC_000011.10:g.44309737T>G	ExAC,TOPMed
rs1467320510	p.Gln109Ter	stop gained	-	NC_000011.10:g.44309738G>A	TOPMed,gnomAD
rs866420250	p.Gln110Pro	missense variant	-	NC_000011.10:g.44309734T>G	TOPMed,gnomAD
rs866420250	p.Gln110Arg	missense variant	-	NC_000011.10:g.44309734T>C	TOPMed,gnomAD
rs1175384200	p.Gln111Ter	stop gained	-	NC_000011.10:g.44309732G>A	gnomAD
rs759611855	p.Gln111Pro	missense variant	-	NC_000011.10:g.44309731T>G	ExAC,TOPMed,gnomAD
rs751385178	p.Pro112Gln	missense variant	-	NC_000011.10:g.44309728G>T	ExAC,TOPMed
rs751385178	p.Pro112Leu	missense variant	-	NC_000011.10:g.44309728G>A	ExAC,TOPMed
rs1437176848	p.Pro114Leu	missense variant	-	NC_000011.10:g.44309722G>A	gnomAD
rs762839322	p.Gln115Pro	missense variant	-	NC_000011.10:g.44309719T>G	ExAC,TOPMed,gnomAD
rs772691401	p.Pro116Arg	missense variant	-	NC_000011.10:g.44309716G>C	ExAC,TOPMed,gnomAD
rs772691401	p.Pro116Gln	missense variant	-	NC_000011.10:g.44309716G>T	ExAC,TOPMed,gnomAD
rs1032391238	p.Pro117Ser	missense variant	-	NC_000011.10:g.44309714G>A	gnomAD
rs1223788066	p.Pro117Leu	missense variant	-	NC_000011.10:g.44309713G>A	gnomAD
rs186600034	p.Pro120Leu	missense variant	-	NC_000011.10:g.44309704G>A	1000Genomes
rs1277035075	p.Pro120Ala	missense variant	-	NC_000011.10:g.44309705G>C	TOPMed,gnomAD
rs1348762277	p.His121Leu	missense variant	-	NC_000011.10:g.44309701T>A	TOPMed
rs1335695378	p.His121Tyr	missense variant	-	NC_000011.10:g.44309702G>A	TOPMed,gnomAD
rs1449121107	p.Leu124Phe	missense variant	-	NC_000011.10:g.44309691C>G	TOPMed,gnomAD
rs1404064476	p.Arg126Gln	missense variant	-	NC_000011.10:g.44309686C>T	gnomAD
rs1404064476	p.Arg126Pro	missense variant	-	NC_000011.10:g.44309686C>G	gnomAD
rs1336288510	p.Gly127Asp	missense variant	-	NC_000011.10:g.44309683C>T	gnomAD
rs1426934275	p.Ala128Thr	missense variant	-	NC_000011.10:g.44309681C>T	gnomAD
RCV000005322	p.Cys129Ter	frameshift	Parietal foramina 2 (PFM2)	NC_000011.10:g.44309670_44309679del	ClinVar
rs1469529527	p.Cys129Ser	missense variant	-	NC_000011.10:g.44309677C>G	gnomAD
rs1469529527	p.Cys129Tyr	missense variant	-	NC_000011.10:g.44309677C>T	gnomAD
rs1180480531	p.Lys130Thr	missense variant	-	NC_000011.10:g.44309674T>G	gnomAD
rs776145976	p.Thr131Lys	missense variant	-	NC_000011.10:g.44309671G>T	gnomAD
rs747567353	p.Thr131Ala	missense variant	-	NC_000011.10:g.44309672T>C	ExAC,gnomAD
rs776145976	p.Thr131Met	missense variant	-	NC_000011.10:g.44309671G>A	gnomAD
rs534395095	p.Pro132His	missense variant	-	NC_000011.10:g.44309668G>T	1000Genomes,ExAC,gnomAD
RCV000489069	p.Pro133Ter	frameshift	-	NC_000011.10:g.44309669del	ClinVar
rs1281091685	p.Pro133Ser	missense variant	-	NC_000011.10:g.44309666G>A	gnomAD
rs1350528834	p.Asp134Asn	missense variant	-	NC_000011.10:g.44309663C>T	gnomAD
rs772281686	p.Gly135Ser	missense variant	-	NC_000011.10:g.44309660C>T	ExAC,TOPMed,gnomAD
rs1380673100	p.Leu137Phe	missense variant	-	NC_000011.10:g.44309654G>A	gnomAD
rs104894191	p.Gln140Ter	stop gained	Parietal foramina 2 (pfm2)	NC_000011.10:g.44309645G>A	-
RCV000005316	p.Gln140Ter	nonsense	Parietal foramina 2 (PFM2)	NC_000011.10:g.44309645G>A	ClinVar
rs959308498	p.Glu141Lys	missense variant	-	NC_000011.10:g.44309642C>T	TOPMed
rs778941350	p.Gly142Asp	missense variant	-	NC_000011.10:g.44309638C>T	ExAC,gnomAD
rs374726657	p.Ser147Asn	missense variant	-	NC_000011.10:g.44309623C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1443974757	p.Leu150Trp	missense variant	-	NC_000011.10:g.44309614A>C	TOPMed,gnomAD
rs1384019912	p.Leu150Phe	missense variant	-	NC_000011.10:g.44309613C>A	gnomAD
rs1443974757	p.Leu150Ser	missense variant	-	NC_000011.10:g.44309614A>G	TOPMed,gnomAD
rs1181946890	p.Gln151Lys	missense variant	-	NC_000011.10:g.44309612G>T	gnomAD
rs754942746	p.Val152Leu	missense variant	-	NC_000011.10:g.44309609C>G	ExAC,gnomAD
rs754942746	p.Val152Phe	missense variant	-	NC_000011.10:g.44309609C>A	ExAC,gnomAD
rs1240024957	p.Pro153Ser	missense variant	-	NC_000011.10:g.44309606G>A	gnomAD
rs1214694720	p.Pro153Arg	missense variant	-	NC_000011.10:g.44309605G>C	gnomAD
rs182274454	p.Cys154Ser	missense variant	-	NC_000011.10:g.44309603A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1287276795	p.Cys154Phe	missense variant	-	NC_000011.10:g.44309602C>A	gnomAD
rs1287276795	p.Cys154Tyr	missense variant	-	NC_000011.10:g.44309602C>T	gnomAD
rs553689111	p.Glu158Asp	missense variant	-	NC_000011.10:g.44275651C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1267183405	p.Gly162Ser	missense variant	-	NC_000011.10:g.44275641C>T	gnomAD
rs371740812	p.Glu163Ter	stop gained	-	NC_000011.10:g.44275638C>A	ESP
rs1332937408	p.Pro164Ser	missense variant	-	NC_000011.10:g.44275635G>A	TOPMed
rs779790993	p.Glu165Val	missense variant	-	NC_000011.10:g.44275631T>A	ExAC,gnomAD
rs758432138	p.Leu166Ser	missense variant	-	NC_000011.10:g.44275628A>G	ExAC,gnomAD
rs1458347692	p.Pro167Thr	missense variant	-	NC_000011.10:g.44275626G>T	gnomAD
rs750173751	p.Pro168Ser	missense variant	-	NC_000011.10:g.44275623G>A	ExAC,gnomAD
RCV000170519	p.Pro168Ter	frameshift	Frontonasal dysplasia 2 (FND2)	NC_000011.10:g.44275626del	ClinVar
rs954730060	p.Asp169His	missense variant	-	NC_000011.10:g.44275620C>G	TOPMed
RCV000005319	p.Asp169Ter	frameshift	Parietal foramina 2 (PFM2)	NC_000011.10:g.44275621del	ClinVar
rs765070227	p.Val173Ala	missense variant	-	NC_000011.10:g.44275607A>G	ExAC,gnomAD
rs1360152323	p.Gly174Glu	missense variant	-	NC_000011.10:g.44275604C>T	gnomAD
rs1220821904	p.Met175Ile	missense variant	-	NC_000011.10:g.44275600C>T	gnomAD
rs376287400	p.Asp176Glu	missense variant	-	NC_000011.10:g.44275597G>C	ESP,ExAC,TOPMed,gnomAD
rs756876669	p.Asp176Gly	missense variant	-	NC_000011.10:g.44275598T>C	ExAC,gnomAD
rs763754428	p.Ser178Arg	missense variant	-	NC_000011.10:g.44275591G>C	ExAC,TOPMed,gnomAD
rs1230393027	p.Tyr179His	missense variant	-	NC_000011.10:g.44275590A>G	TOPMed
rs775067051	p.Leu180Val	missense variant	-	NC_000011.10:g.44275587G>C	ExAC,gnomAD
rs368396709	p.Lys183Glu	missense variant	-	NC_000011.10:g.44275578T>C	ESP,ExAC,TOPMed,gnomAD
rs996306671	p.Ala185Thr	missense variant	-	NC_000011.10:g.44275572C>T	TOPMed
rs1433726843	p.Val187Met	missense variant	-	NC_000011.10:g.44275566C>T	TOPMed,gnomAD
rs143620051	p.Pro190Leu	missense variant	-	NC_000011.10:g.44275556G>A	ESP,ExAC,TOPMed,gnomAD
rs143620051	p.Pro190His	missense variant	-	NC_000011.10:g.44275556G>T	ESP,ExAC,TOPMed,gnomAD
RCV000260368	p.Pro190Leu	missense variant	Enlarged parietal foramina	NC_000011.10:g.44275556G>A	ClinVar
rs1159960276	p.Asp192Glu	missense variant	-	NC_000011.10:g.44275549G>C	TOPMed,gnomAD
rs201303900	p.Arg193Gln	missense variant	-	NC_000011.10:g.44275547C>T	ExAC,TOPMed,gnomAD
rs773510510	p.Arg193Trp	missense variant	-	NC_000011.10:g.44275548G>A	ExAC,TOPMed,gnomAD
rs748173197	p.Ala194Asp	missense variant	-	NC_000011.10:g.44275544G>T	ExAC,gnomAD
rs758249273	p.Pro199Leu	missense variant	-	NC_000011.10:g.44275529G>A	ExAC,TOPMed,gnomAD
RCV000426270	p.Pro199Leu	missense variant	-	NC_000011.10:g.44275529G>A	ClinVar
rs1156905338	p.Ser200Arg	missense variant	-	NC_000011.10:g.44275525G>T	TOPMed
rs745862299	p.Pro201Ser	missense variant	-	NC_000011.10:g.44275524G>A	ExAC
rs150424138	p.Leu202Trp	missense variant	-	NC_000011.10:g.44275520A>C	ExAC,TOPMed,gnomAD
rs753642057	p.Ala205Ser	missense variant	-	NC_000011.10:g.44275512C>A	ExAC,gnomAD
rs140457891	p.Asp206Asn	missense variant	-	NC_000011.10:g.44275509C>T	ExAC,TOPMed,gnomAD
RCV000005321	p.Ser207Ter	nonsense	Parietal foramina 2 (PFM2)	NC_000011.10:g.44275505G>T	ClinVar
rs104894197	p.Ser207Leu	missense variant	Parietal foramina 2 (pfm2)	NC_000011.10:g.44275505G>A	ExAC,gnomAD
rs104894197	p.Ser207Ter	stop gained	Parietal foramina 2 (pfm2)	NC_000011.10:g.44275505G>T	ExAC,gnomAD
rs1440914540	p.Glu208Asp	missense variant	-	NC_000011.10:g.44275501C>G	gnomAD
rs1484817238	p.Ser209Thr	missense variant	-	NC_000011.10:g.44275499C>G	gnomAD
rs568863681	p.Ser209Arg	missense variant	-	NC_000011.10:g.44275498G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1217471125	p.Asn210His	missense variant	-	NC_000011.10:g.44275497T>G	gnomAD
rs1226922208	p.Lys211Thr	missense variant	-	NC_000011.10:g.44275493T>G	TOPMed
rs281865154	p.Lys211Glu	missense variant	-	NC_000011.10:g.44275494T>C	-
RCV000074435	p.Lys211Glu	missense variant	Craniosynostosis 5, susceptibility to (CRS5)	NC_000011.10:g.44275494T>C	ClinVar
rs770130333	p.Arg215Trp	missense variant	-	NC_000011.10:g.44275482G>A	ExAC,gnomAD
rs370195126	p.Arg215Gln	missense variant	-	NC_000011.10:g.44275481C>T	ESP,ExAC,TOPMed,gnomAD
rs1014714152	p.Arg216Gln	missense variant	-	NC_000011.10:g.44275478C>T	TOPMed
rs587777700	p.Arg216Gly	missense variant	Parietal foramina 2 (pfm2)	NC_000011.10:g.44275479G>C	ExAC,gnomAD
rs587777700	p.Arg216Trp	missense variant	Parietal foramina 2 (pfm2)	NC_000011.10:g.44275479G>A	ExAC,gnomAD
RCV000144036	p.Arg216Gly	missense variant	Parietal foramina 2 (PFM2)	NC_000011.10:g.44275479G>C	ClinVar
rs104894193	p.Arg218Gln	missense variant	Parietal foramina 2 (pfm2)	NC_000011.10:g.44275472C>T	ExAC,gnomAD
rs104894193	p.Arg218Gln	missense variant	Parietal foramina 2 (PFM2)	NC_000011.10:g.44275472C>T	UniProt,dbSNP
VAR_010785	p.Arg218Gln	missense variant	Parietal foramina 2 (PFM2)	NC_000011.10:g.44275472C>T	UniProt
RCV000005318	p.Arg218Gln	missense variant	Parietal foramina 2 (PFM2)	NC_000011.10:g.44275472C>T	ClinVar
rs138094422	p.Arg218Trp	missense variant	-	NC_000011.10:g.44275473G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs587777701	p.Gln225Glu	missense variant	Frontonasal dysplasia 2 (fnd2)	NC_000011.10:g.44275452G>C	-
RCV000144037	p.Gln225Glu	missense variant	Frontonasal dysplasia 2 (FND2)	NC_000011.10:g.44275452G>C	ClinVar
rs755698536	p.Glu227Gly	missense variant	-	NC_000011.10:g.44275445T>C	ExAC,gnomAD
rs376402455	p.Glu227Lys	missense variant	-	NC_000011.10:g.44275446C>T	ESP,ExAC,gnomAD
rs201889959	p.Glu228Lys	missense variant	-	NC_000011.10:g.44275443C>T	1000Genomes
rs780739319	p.Leu229Met	missense variant	-	NC_000011.10:g.44275440G>T	ExAC,gnomAD
rs1472169793	p.Lys231Arg	missense variant	-	NC_000011.10:g.44275433T>C	TOPMed
rs754454206	p.Gln234Pro	missense variant	-	NC_000011.10:g.44275424T>G	ExAC,gnomAD
rs750798110	p.Val241Met	missense variant	-	NC_000011.10:g.44275404C>T	ExAC,TOPMed,gnomAD
rs750798110	p.Val241Leu	missense variant	-	NC_000011.10:g.44275404C>A	ExAC,TOPMed,gnomAD
rs145166164	p.Ala243Val	missense variant	-	NC_000011.10:g.44275397G>A	ESP,ExAC,TOPMed,gnomAD
RCV000266092	p.Ala243Val	missense variant	Enlarged parietal foramina	NC_000011.10:g.44275397G>A	ClinVar
rs1167159867	p.Arg244Trp	missense variant	-	NC_000011.10:g.44275395G>A	gnomAD
rs1426973957	p.Arg244Gln	missense variant	-	NC_000011.10:g.44275394C>T	gnomAD
RCV000005317	p.Gln246Ter	nonsense	Parietal foramina 2 (PFM2)	NC_000011.10:g.44275389G>A	ClinVar
rs104894192	p.Gln246Ter	stop gained	Parietal foramina 2 (pfm2)	NC_000011.10:g.44275389G>A	-
rs776867365	p.Leu247Met	missense variant	-	NC_000011.10:g.44275386G>T	ExAC,gnomAD
rs760676423	p.Met249Thr	missense variant	-	NC_000011.10:g.44275379A>G	ExAC,TOPMed,gnomAD
rs986694906	p.Arg250Thr	missense variant	-	NC_000011.10:g.44275376C>G	TOPMed,gnomAD
rs888638764	p.Arg250Ser	missense variant	-	NC_000011.10:g.44275375C>A	TOPMed
rs528383817	p.Arg257Cys	missense variant	-	NC_000011.10:g.44275356G>A	1000Genomes,ExAC,gnomAD
rs200419726	p.Arg257His	missense variant	-	NC_000011.10:g.44275355C>T	ExAC,gnomAD
rs747909089	p.Val258Met	missense variant	-	NC_000011.10:g.44275353C>T	ExAC,gnomAD
rs747909089	p.Val258Leu	missense variant	-	NC_000011.10:g.44275353C>A	ExAC,gnomAD
RCV000778324	p.Gln263Ter	nonsense	Parietal foramina 2 (PFM2)	NC_000011.10:g.44267613G>A	ClinVar
rs759545911	p.Asn264Ser	missense variant	-	NC_000011.10:g.44267609T>C	ExAC,gnomAD
rs267606653	p.Arg265Ter	stop gained	Frontonasal dysplasia 2 (fnd2)	NC_000011.10:g.44267607G>A	-
RCV000005323	p.Arg265Ter	nonsense	Frontonasal dysplasia 2 (FND2)	NC_000011.10:g.44267607G>A	ClinVar
RCV000623177	p.Arg265Ter	nonsense	Inborn genetic diseases	NC_000011.10:g.44267607G>A	ClinVar
rs765208460	p.Arg265Gln	missense variant	-	NC_000011.10:g.44267606C>T	ExAC,gnomAD
rs765208460	p.Arg265Leu	missense variant	-	NC_000011.10:g.44267606C>A	ExAC,gnomAD
rs1224334152	p.Ala267Val	missense variant	-	NC_000011.10:g.44267600G>A	TOPMed,gnomAD
rs1240440436	p.Ala267Thr	missense variant	-	NC_000011.10:g.44267601C>T	TOPMed,gnomAD
rs104894196	p.Arg272Pro	missense variant	Parietal foramina 2 (PFM2)	NC_000011.10:g.44267585C>G	UniProt,dbSNP
VAR_010897	p.Arg272Pro	missense variant	Parietal foramina 2 (PFM2)	NC_000011.10:g.44267585C>G	UniProt
rs104894196	p.Arg272Pro	missense variant	Parietal foramina 2 (pfm2)	NC_000011.10:g.44267585C>G	gnomAD
rs104894196	p.Arg272Gln	missense variant	Parietal foramina 2 (pfm2)	NC_000011.10:g.44267585C>T	gnomAD
RCV000005320	p.Arg272Pro	missense variant	Parietal foramina 2 (PFM2)	NC_000011.10:g.44267585C>G	ClinVar
rs746826513	p.Arg274Cys	missense variant	-	NC_000011.10:g.44267580G>A	ExAC,TOPMed,gnomAD
rs368050443	p.Arg274His	missense variant	-	NC_000011.10:g.44267579C>T	ESP,ExAC,TOPMed,gnomAD
rs1333208956	p.Phe275Ser	missense variant	-	NC_000011.10:g.44267576A>G	gnomAD
rs530368100	p.Gln277His	missense variant	-	NC_000011.10:g.44267569C>G	1000Genomes,TOPMed
rs771851241	p.Gln279Lys	missense variant	-	NC_000011.10:g.44267565G>T	ExAC,gnomAD
rs144440589	p.Arg282Gln	missense variant	-	NC_000011.10:g.44267555C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1156752533	p.Arg282Ter	stop gained	-	NC_000011.10:g.44267556G>A	gnomAD
rs144440589	p.Arg282Pro	missense variant	-	NC_000011.10:g.44267555C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771444101	p.Thr283Asn	missense variant	-	NC_000011.10:g.44267552G>T	ExAC,TOPMed,gnomAD
rs1163966653	p.Thr287Ser	missense variant	-	NC_000011.10:g.44267540G>C	TOPMed
rs1180005375	p.Ala288Ser	missense variant	-	NC_000011.10:g.44267538C>A	gnomAD
rs1231817169	p.Ala288Val	missense variant	-	NC_000011.10:g.44267537G>A	TOPMed,gnomAD
rs1320494944	p.Tyr289Cys	missense variant	-	NC_000011.10:g.44267534T>C	TOPMed,gnomAD
rs1471576532	p.Pro292His	missense variant	-	NC_000011.10:g.44267525G>T	gnomAD
rs756421390	p.Thr295Ser	missense variant	-	NC_000011.10:g.44267516G>C	ExAC,TOPMed,gnomAD
rs756421390	p.Thr295Ile	missense variant	-	NC_000011.10:g.44267516G>A	ExAC,TOPMed,gnomAD
rs753073089	p.Arg296Gly	missense variant	-	NC_000011.10:g.44267514G>C	ExAC,TOPMed,gnomAD
rs144961504	p.Arg296Gln	missense variant	-	NC_000011.10:g.44267513C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1247413232	p.Asn299Ser	missense variant	-	NC_000011.10:g.44267504T>C	TOPMed
rs766411205	p.Ala301Ser	missense variant	-	NC_000011.10:g.44267499C>A	ExAC,TOPMed,gnomAD
rs766411205	p.Ala301Thr	missense variant	-	NC_000011.10:g.44267499C>T	ExAC,TOPMed,gnomAD
rs748695742	p.Asn305Lys	missense variant	-	NC_000011.10:g.44265175G>T	ExAC,TOPMed,gnomAD
rs149897209	p.Pro306Leu	missense variant	-	NC_000011.10:g.44265173G>A	UniProt,dbSNP
VAR_069281	p.Pro306Leu	missense variant	-	NC_000011.10:g.44265173G>A	UniProt
rs149897209	p.Pro306Leu	missense variant	-	NC_000011.10:g.44265173G>A	ESP,ExAC,TOPMed,gnomAD
rs780076792	p.Gly310Ser	missense variant	-	NC_000011.10:g.44265162C>T	ExAC,TOPMed,gnomAD
rs780076792	p.Gly310Arg	missense variant	-	NC_000011.10:g.44265162C>G	ExAC,TOPMed,gnomAD
rs1218321895	p.Asn312Ser	missense variant	-	NC_000011.10:g.44265155T>C	gnomAD
rs888252724	p.Ala314Ser	missense variant	-	NC_000011.10:g.44265150C>A	TOPMed,gnomAD
rs888252724	p.Ala314Pro	missense variant	-	NC_000011.10:g.44265150C>G	TOPMed,gnomAD
rs1028561582	p.Ala315Thr	missense variant	-	NC_000011.10:g.44265147C>T	TOPMed,gnomAD
rs1028561582	p.Ala315Pro	missense variant	-	NC_000011.10:g.44265147C>G	TOPMed,gnomAD
rs752640074	p.Ser316Leu	missense variant	-	NC_000011.10:g.44265143G>A	ExAC,gnomAD
rs767511619	p.Pro317Ser	missense variant	-	NC_000011.10:g.44265141G>A	ExAC,gnomAD
rs971229762	p.Ala320Ser	missense variant	-	NC_000011.10:g.44265132C>A	TOPMed
rs754671277	p.Ala320Gly	missense variant	-	NC_000011.10:g.44265131G>C	ExAC,TOPMed,gnomAD
rs762716140	p.Val322Met	missense variant	-	NC_000011.10:g.44265126C>T	ExAC,TOPMed,gnomAD
rs762716140	p.Val322Leu	missense variant	-	NC_000011.10:g.44265126C>A	ExAC,TOPMed,gnomAD
rs186244229	p.Asp326Asn	missense variant	-	NC_000011.10:g.44265114C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000415474	p.Asp326Asn	missense variant	Frontonasal dysplasia 2 (FND2)	NC_000011.10:g.44265114C>T	ClinVar
rs186244229	p.Asp326Tyr	missense variant	-	NC_000011.10:g.44265114C>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000144038	p.Asp326Ter	frameshift	Parietal foramina 2 (PFM2)	NC_000011.10:g.44265105_44265114delinsAGTTGCCATCTCTGTTGAGATCTTAG	ClinVar
RCV000513863	p.Asp326Asn	missense variant	-	NC_000011.10:g.44265114C>T	ClinVar
rs372163762	p.Pro327Leu	missense variant	-	NC_000011.10:g.44265110G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372163762	p.Pro327Gln	missense variant	-	NC_000011.10:g.44265110G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1458389067	p.Val328Met	missense variant	-	NC_000011.10:g.44265108C>T	gnomAD
rs1207788593	p.Pro329Thr	missense variant	-	NC_000011.10:g.44265105G>T	gnomAD
rs980674490	p.Cys331Tyr	missense variant	-	NC_000011.10:g.44265098C>T	TOPMed,gnomAD
rs1442092132	p.Met332Lys	missense variant	-	NC_000011.10:g.44265095A>T	gnomAD
rs1478735796	p.Ser333Phe	missense variant	-	NC_000011.10:g.44265092G>A	TOPMed
rs760189256	p.Pro334Leu	missense variant	-	NC_000011.10:g.44265089G>A	ExAC,TOPMed,gnomAD
rs1236496444	p.Ala336Val	missense variant	-	NC_000011.10:g.44265083G>A	gnomAD
rs747334899	p.His337Gln	missense variant	-	NC_000011.10:g.44265079G>T	ExAC,gnomAD
rs144198846	p.Pro338Thr	missense variant	-	NC_000011.10:g.44265078G>T	ESP,ExAC,TOPMed,gnomAD
rs772158840	p.Pro338Arg	missense variant	-	NC_000011.10:g.44265077G>C	ExAC,gnomAD
rs757361317	p.Pro339Ala	missense variant	-	NC_000011.10:g.44265075G>C	ExAC,TOPMed,gnomAD
rs757361317	p.Pro339Thr	missense variant	-	NC_000011.10:g.44265075G>T	ExAC,TOPMed,gnomAD
rs757361317	p.Pro339Ser	missense variant	-	NC_000011.10:g.44265075G>A	ExAC,TOPMed,gnomAD
rs1464829765	p.Ala343Thr	missense variant	-	NC_000011.10:g.44265063C>T	TOPMed,gnomAD
rs1177406080	p.Ser344Ile	missense variant	-	NC_000011.10:g.44265059C>A	gnomAD
rs749390789	p.Ser345Asn	missense variant	-	NC_000011.10:g.44265056C>T	ExAC,gnomAD
rs140652481	p.Ser345Arg	missense variant	-	NC_000011.10:g.44265055G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751290539	p.Val346Ile	missense variant	-	NC_000011.10:g.44265054C>T	ExAC,TOPMed,gnomAD
rs1235851082	p.Asp348Val	missense variant	-	NC_000011.10:g.44265047T>A	TOPMed
rs369033845	p.Asp348Asn	missense variant	-	NC_000011.10:g.44265048C>T	ESP,ExAC,TOPMed,gnomAD
rs750030599	p.Ser351Ile	missense variant	-	NC_000011.10:g.44265038C>A	ExAC,gnomAD
rs1212846127	p.Val352Ala	missense variant	-	NC_000011.10:g.44265035A>G	gnomAD
rs761250353	p.Ser353Phe	missense variant	-	NC_000011.10:g.44265032G>A	ExAC,TOPMed
rs1284621297	p.Ser353Thr	missense variant	-	NC_000011.10:g.44265033A>T	gnomAD
rs1240211564	p.Gly354Arg	missense variant	-	NC_000011.10:g.44265030C>T	gnomAD
rs1395152265	p.Ala355Val	missense variant	-	NC_000011.10:g.44265026G>A	TOPMed,gnomAD
rs1395152265	p.Ala355Asp	missense variant	-	NC_000011.10:g.44265026G>T	TOPMed,gnomAD
rs1310129725	p.Ala355Thr	missense variant	-	NC_000011.10:g.44265027C>T	gnomAD
rs952423649	p.Gly356Ser	missense variant	-	NC_000011.10:g.44265024C>T	TOPMed
rs1312253070	p.Ser357Ile	missense variant	-	NC_000011.10:g.44265020C>A	gnomAD
rs764490498	p.Ser357Gly	missense variant	-	NC_000011.10:g.44265021T>C	ExAC,TOPMed,gnomAD
rs775689545	p.Val359Met	missense variant	-	NC_000011.10:g.44265015C>T	ExAC,gnomAD
rs772445432	p.Gln361Arg	missense variant	-	NC_000011.10:g.44265008T>C	ExAC,gnomAD
rs772445432	p.Gln361Leu	missense variant	-	NC_000011.10:g.44265008T>A	ExAC,gnomAD
rs61737293	p.Thr362Met	missense variant	-	NC_000011.10:g.44265005G>A	ESP,ExAC,TOPMed,gnomAD
rs774659166	p.Thr362Ala	missense variant	-	NC_000011.10:g.44265006T>C	ExAC,gnomAD
rs943508604	p.His363Gln	missense variant	-	NC_000011.10:g.44265001G>T	TOPMed
rs768446841	p.Met364Val	missense variant	-	NC_000011.10:g.44265000T>C	ExAC,gnomAD
rs1309943017	p.Met364Arg	missense variant	-	NC_000011.10:g.44264999A>C	gnomAD
rs1256541673	p.Gly365Asp	missense variant	-	NC_000011.10:g.44264996C>T	gnomAD
rs779876897	p.Ser366Cys	missense variant	-	NC_000011.10:g.44264994T>A	ExAC,TOPMed,gnomAD
rs1262348859	p.Ser366Thr	missense variant	-	NC_000011.10:g.44264993C>G	gnomAD
rs779876897	p.Ser366Gly	missense variant	-	NC_000011.10:g.44264994T>C	ExAC,TOPMed,gnomAD
rs750221052	p.Gly369Glu	missense variant	-	NC_000011.10:g.44264984C>T	ExAC,TOPMed,gnomAD
rs1263182037	p.Ala370Thr	missense variant	-	NC_000011.10:g.44264982C>T	gnomAD
rs778529834	p.Ala371Asp	missense variant	-	NC_000011.10:g.44264978G>T	ExAC,gnomAD
rs985033532	p.Ser372Cys	missense variant	-	NC_000011.10:g.44264976T>A	TOPMed
rs148027225	p.Leu373Phe	missense variant	-	NC_000011.10:g.44264973G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753270187	p.Ser374Gly	missense variant	-	NC_000011.10:g.44264970T>C	ExAC,TOPMed,gnomAD
rs763704637	p.Leu377Phe	missense variant	-	NC_000011.10:g.44264961G>A	ExAC,gnomAD
rs144742417	p.Asn378Ser	missense variant	-	NC_000011.10:g.44264957T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768153687	p.Glu381Lys	missense variant	-	NC_000011.10:g.44264949C>T	ExAC,TOPMed,gnomAD
rs759914813	p.Glu381Gly	missense variant	-	NC_000011.10:g.44264948T>C	ExAC,gnomAD
rs768153687	p.Glu381Gln	missense variant	-	NC_000011.10:g.44264949C>G	ExAC,TOPMed,gnomAD
rs763307132	p.Gly384Arg	missense variant	-	NC_000011.10:g.44264940C>G	ExAC,TOPMed,gnomAD
rs763307132	p.Gly384Ser	missense variant	-	NC_000011.10:g.44264940C>T	ExAC,TOPMed,gnomAD
rs748187496	p.Glu385Lys	missense variant	-	NC_000011.10:g.44264937C>T	ExAC,TOPMed,gnomAD
rs748187496	p.Glu385Gln	missense variant	-	NC_000011.10:g.44264937C>G	ExAC,TOPMed,gnomAD
rs904598017	p.Pro386Leu	missense variant	-	NC_000011.10:g.44264933G>A	gnomAD
rs779972509	p.Pro386Ala	missense variant	-	NC_000011.10:g.44264934G>C	ExAC,gnomAD
rs778724337	p.Arg388Cys	missense variant	-	NC_000011.10:g.44264928G>A	ExAC,TOPMed,gnomAD
rs756876780	p.Arg388His	missense variant	-	NC_000011.10:g.44264927C>T	ExAC,gnomAD
RCV000306334	p.Arg388His	missense variant	Enlarged parietal foramina	NC_000011.10:g.44264927C>T	ClinVar
rs1274633399	p.Thr390Asn	missense variant	-	NC_000011.10:g.44264921G>T	gnomAD
rs1274633399	p.Thr390Ile	missense variant	-	NC_000011.10:g.44264921G>A	gnomAD
rs777315924	p.Ile393Asn	missense variant	-	NC_000011.10:g.44264912A>T	ExAC,TOPMed,gnomAD
rs1316438209	p.Ile393Leu	missense variant	-	NC_000011.10:g.44264913T>G	TOPMed,gnomAD
rs1316438209	p.Ile393Val	missense variant	-	NC_000011.10:g.44264913T>C	TOPMed,gnomAD
rs774043649	p.Ala394Val	missense variant	-	NC_000011.10:g.44264909G>A	ExAC,TOPMed,gnomAD
rs369740288	p.Ala394Thr	missense variant	-	NC_000011.10:g.44264910C>T	ESP,ExAC,TOPMed,gnomAD
rs1439142170	p.Ala395Thr	missense variant	-	NC_000011.10:g.44264907C>T	TOPMed
rs763248407	p.Arg397His	missense variant	-	NC_000011.10:g.44264900C>T	ExAC,TOPMed,gnomAD
rs766809146	p.Arg397Cys	missense variant	-	NC_000011.10:g.44264901G>A	ExAC,gnomAD
rs1476323980	p.Met398Ile	missense variant	-	NC_000011.10:g.44264896C>T	gnomAD
rs1399189995	p.Met398Val	missense variant	-	NC_000011.10:g.44264898T>C	TOPMed,gnomAD
rs773423723	p.Met398Arg	missense variant	-	NC_000011.10:g.44264897A>C	ExAC,TOPMed,gnomAD
RCV000714827	p.Met398Val	missense variant	Frontonasal dysplasia 2 (FND2)	NC_000011.10:g.44264898T>C	ClinVar
rs200122905	p.Ala405Val	missense variant	-	NC_000011.10:g.44264876G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200122905	p.Ala405Gly	missense variant	-	NC_000011.10:g.44264876G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs200122905	p.Ala405Glu	missense variant	-	NC_000011.10:g.44264876G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs774306730	p.Trp409Ter	stop gained	-	NC_000011.10:g.44264863C>T	ExAC,gnomAD
rs1239808717	p.Trp409Arg	missense variant	-	NC_000011.10:g.44264865A>G	TOPMed
rs1457062170	p.Thr411Ile	missense variant	-	NC_000011.10:g.44264858G>A	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001418	Adenocarcinoma	group	BEFREE
C0001430	Adenoma	group	BEFREE
C0002170	Alopecia	disease	HPO
C0007102	Malignant tumor of colon	disease	BEFREE
C0010278	Craniosynostosis	disease	BEFREE;CTD_human;GENOMICS_ENGLAND;HPO
C0010417	Cryptorchidism	disease	HPO
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE
C0014065	Congenital cerebral hernia	disease	HPO
C0014544	Epilepsy	disease	HPO
C0015306	Hereditary Multiple Exostoses	disease	BEFREE
C0015934	Fetal Growth Retardation	phenotype	HPO
C0018099	Gout	disease	GWASCAT
C0020534	Orbital separation excessive	phenotype	HPO
C0020619	Hypogonadism	disease	HPO
C0021296	Infant, Small for Gestational Age	phenotype	HPO
C0024121	Lung Neoplasms	group	CTD_human
C0025149	Medulloblastoma	disease	BEFREE
C0025990	Micrognathism	disease	HPO
C0026010	Microphthalmos	disease	HPO
C0026106	Mild Mental Retardation	disease	HPO
C0026351	Moderate mental retardation (I.Q. 35-49)	disease	HPO
C0028738	Nystagmus	disease	HPO
C0029925	Ovarian Carcinoma	disease	BEFREE
C0030044	Acrocephaly	disease	CTD_human
C0032584	polyps	phenotype	BEFREE
C0036572	Seizures	phenotype	HPO
C0038379	Strabismus	disease	HPO
C0079924	Oligohydramnios	phenotype	HPO
C0152427	Polydactyly	disease	CTD_human
C0175754	Agenesis of corpus callosum	disease	HPO
C0206698	Cholangiocarcinoma	disease	BEFREE
C0221354	Frontal bossing	disease	HPO
C0221356	Brachycephaly	disease	CTD_human;HPO
C0221358	Long narrow head	phenotype	HPO
C0221363	Bifid nose	phenotype	HPO
C0235942	Abnormality of the skull	phenotype	HPO
C0239234	Low set ears	phenotype	HPO
C0242379	Malignant neoplasm of lung	disease	BEFREE;CTD_human
C0265268	Adams Oliver syndrome	disease	BEFREE
C0265534	Scaphycephaly	disease	CTD_human;ORPHANET
C0265535	Trigonocephaly	disease	CTD_human
C0266037	Peg-shaped teeth	disease	HPO
C0266435	Congenital hypoplasia of penis	disease	HPO
C0344482	Hypoplasia of corpus callosum	disease	HPO
C0345904	Malignant neoplasm of liver	disease	BEFREE
C0376634	Craniofacial Abnormalities	group	CTD_human
C0423109	Upward slant of palpebral fissure	phenotype	HPO
C0423112	Short palpebral fissure	phenotype	HPO
C0423113	Telecanthus	phenotype	HPO
C0423867	Fine hair	phenotype	HPO
C0424688	Small head	phenotype	HPO
C0426428	Bifid nasal tip	phenotype	HPO
C0426429	Broad nasal tip	phenotype	HPO
C0431399	Familial aplasia of the vermis	disease	HPO
C0431659	Hypoplasia of scrotum	phenotype	HPO
C0432073	Defect of skull ossification	group	HPO
C0494165	Secondary malignant neoplasm of liver	disease	BEFREE
C0557874	Global developmental delay	disease	HPO
C0596263	Carcinogenesis	phenotype	BEFREE
C0678230	Congenital Epicanthus	disease	HPO
C0684249	Carcinoma of lung	disease	BEFREE
C0685938	Malignant neoplasm of gastrointestinal tract	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0940937	precancerous lesions	phenotype	BEFREE
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1302401	Adenoma of large intestine	disease	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1386048	Intrauterine retardation	phenotype	HPO
C1442903	Exostoses	phenotype	HPO
C1527249	Colorectal Cancer	disease	BEFREE
C1832588	Chromosome 11p11.2 Deletion Syndrome	disease	BEFREE;ORPHANET
C1833340	Synostotic Posterior Plagiocephaly	disease	CTD_human
C1834055	Underdeveloped nasal alae	phenotype	HPO
C1836542	Depressed nasal bridge	phenotype	HPO
C1839764	Broad flat nasal bridge	phenotype	HPO
C1840077	Anteverted nostril	phenotype	HPO
C1840379	Cerebellar vermis hypoplasia	phenotype	HPO
C1842876	Depressed nasal ridge	phenotype	HPO
C1843300	Sparse eyelashes	phenotype	HPO
C1849367	Nasal bridge wide	phenotype	HPO
C1854111	Broad philtrum	phenotype	HPO
C1854113	Prominent nasal bridge	phenotype	HPO
C1855496	Contiguous gene syndrome	disease	BEFREE
C1855698	Aplasia cutis congenita of scalp	disease	HPO
C1856266	Coronal craniosynostosis	disease	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1859717	Depressed nasal tip	phenotype	HPO
C1860819	Metopic synostosis	disease	CTD_human
C1861324	Short philtrum	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C1865044	PARIETAL FORAMINA 2	disease	CLINVAR;CTD_human;UNIPROT
C1865045	Symmetrical, oval parietal bone defects	phenotype	HPO
C1866195	Downturned corners of mouth	phenotype	HPO
C1868598	PARIETAL FORAMINA	disease	BEFREE;MGD;ORPHANET
C1876203	Frontonasal dysplasia	disease	CTD_human
C2931150	Synostotic Anterior Plagiocephaly	disease	CTD_human
C3150703	FRONTONASAL DYSPLASIA 2	disease	CLINVAR;ORPHANET
C3550546	Depressed nasal root/bridge	phenotype	HPO
C3550658	Maternal oligohydramnios	phenotype	HPO
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C3809819	CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO	phenotype	CLINVAR;UNIPROT
C4012359	Pointed tooth	phenotype	HPO
C4020875	Mental and motor retardation	phenotype	HPO
C4020890	Notched nasal tip	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4025787	Calvarial skull defect	phenotype	HPO
C4048801	Scalp defect	phenotype	HPO
C4072823	Broad cranium shape	phenotype	HPO
C4072824	Wide skull shape	phenotype	HPO
C4072857	Focal absence of scalp tissue	phenotype	HPO
C4072858	Solitary scalp defect	phenotype	HPO
C4230640	Convex nasal bridge	phenotype	HPO
C4280318	Indented bridge of nose	phenotype	HPO
C4280319	Cleft nasal bridge	phenotype	HPO
C4280495	Concave bridge of nose	phenotype	HPO
C4280533	Decreased calcification of skull	phenotype	HPO
C4280596	Calvarial defect	phenotype	HPO
C4280625	Decreased size of eyeball	phenotype	HPO
C4280653	Turridolichocephaly	disease	HPO
C4280654	Narrow skull shape	disease	HPO
C4280655	Narrow head shape	disease	HPO
C4280656	Narrow cranium shape	disease	HPO
C4280808	Abnormally small eyeball	phenotype	HPO
C4282407	Sparse and thin eyebrow	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	IBA
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:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA
GO:0003677	DNA binding	NAS
GO:0071837	HMG box domain binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001501	skeletal system development	NAS
GO:0001942	hair follicle development	IMP
GO:0007517	muscle organ development	IEA
GO:0009791	post-embryonic development	IEA
GO:0009952	anterior/posterior pattern specification	IEA
GO:0035115	embryonic forelimb morphogenesis	IEA
GO:0035116	embryonic hindlimb morphogenesis	IEA
GO:0042733	embryonic digit morphogenesis	IEA
GO:0042981	regulation of apoptotic process	IEA
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA
GO:0048565	digestive tract development	IEA
GO:0048704	embryonic skeletal system morphogenesis	IEA
GO:0060021	roof of mouth development	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	NAS
GO:0005634	nucleus	IDA
GO:0005634	nucleus	IBA
GO:0005654	nucleoplasm	IDA
GO:0005667	transcription factor complex	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C496492	abrine	abrine results in decreased expression of ALX4 mRNA	31054353
D000082	Acetaminophen	Acetaminophen affects the expression of ALX4 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of ALX4 intron	30157460
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of ALX4 intron	30157460
D000077237	Arsenic Trioxide	Arsenic Trioxide results in increased expression of ALX4 mRNA	20458559
C015001	arsenite	arsenite results in increased methylation of ALX4 promoter	23974009
C026487	benzo(e)pyrene	benzo(e)pyrene results in decreased methylation of ALX4 intron	30157460
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone affects the expression of ALX4 mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of ALX4 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of ALX4 mRNA	25181051; 30816183;
C000611646	bisphenol F	bisphenol F affects the expression of ALX4 mRNA	30951980
C018475	butyraldehyde	butyraldehyde results in decreased expression of ALX4 mRNA	26079696
D003300	Copper	Copper deficiency results in increased expression of ALX4 mRNA	26033743
D000077209	Decitabine	Decitabine results in decreased methylation of ALX4 gene	24037716
D000077209	Decitabine	[Decitabine results in decreased methylation of ALX4 gene] which results in increased expression of ALX4 mRNA	24037716; 24037716;
D000077209	Decitabine	Decitabine results in increased expression of ALX4 mRNA	24037716
D003976	Diazinon	Diazinon results in increased methylation of ALX4 gene	22964155
D019422	Dietary Sucrose	Dietary Sucrose results in increased expression of ALX4 mRNA	26033743
D004397	Fonofos	Fonofos results in increased methylation of ALX4 promoter	22847954
D005557	Formaldehyde	Formaldehyde results in increased expression of ALX4 mRNA	28937961
D008701	Methapyrilene	Methapyrilene results in decreased methylation of ALX4 intron	30157460
D009151	Mustard Gas	Mustard Gas results in increased expression of ALX4 mRNA	15674843
D010278	Parathion	Parathion results in increased methylation of ALX4 promoter	22847954
C012568	terbufos	terbufos results in increased methylation of ALX4 promoter	22847954
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of ALX4 mRNA	21296121
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of ALX4 mRNA	24058054
D014118	Toxins, Biological	Toxins, Biological affects the expression of ALX4 mRNA	19682533
D014260	Triclosan	Triclosan results in increased expression of ALX4 mRNA	30510588

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0010	Activator
KW-0989	Craniosynostosis
KW-0217	Developmental protein
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-0371	Homeobox
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR033203	ALX4
IPR009057	Homeobox-like_sf
IPR017970	Homeobox_CS
IPR001356	Homeobox_dom
IPR003654	OAR_dom

PROSITE

PROSITE ID	PROSITE Term
PS00027	HOMEOBOX_1
PS50071	HOMEOBOX_2
PS50803	OAR

Pfam

Pfam ID	Pfam Term
PF00046	Homeodomain
PF03826	OAR

Gene: ALX4

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