CleftGeneDB-Search

Gene: DPH1

Basic information

Tag	Content
Uniprot ID	Q9BZG8; D3DTI3; Q16439; Q4VBA2; Q9BTW7; Q9UCY0;
Entrez ID	1801
Genbank protein ID	EAW90569.1; AAH03099.2; EAW90567.1; AAD10198.1; AAV38681.1; AAB36297.1; AAK13428.1; AAH96088.1;
Genbank nucleotide ID	NM_001383.4; NM_001346576.1;
Ensembl protein ID	ENSP00000263083; ENSP00000458726;
Ensembl nucleotide ID	ENSG00000108963
Gene name	2-(3-amino-3-carboxypropyl)histidine synthase subunit 1
Gene symbol	DPH1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Required for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2). When overexpressed, suppresses colony formation ability and growth rate of ovarian cancer cells. Acts also as a tumor suppressor in lung and breast cancers (By similarity). Plays a role in embryonic growth, organogenesis and postnatal survival (By similarity).
Sequence	MRRQVMAALV VSGAAEQGGR DGPGRGRAPR GRVANQIPPE ILKNPQLQAA IRVLPSNYNF 60 EIPKTIWRIQ QAQAKKVALQ MPEGLLLFAC TIVDILERFT EAEVMVMGDV TYGACCVDDF 120 TARALGADFL VHYGHSCLIP MDTSAQDFRV LYVFVDIRID TTHLLDSLRL TFPPATALAL 180 VSTIQFVSTL QAAAQELKAE YRVSVPQCKP LSPGEILGCT SPRLSKEVEA VVYLGDGRFH 240 LESVMIANPN VPAYRYDPYS KVLSREHYDH QRMQAARQEA IATARSAKSW GLILGTLGRQ 300 GSPKILEHLE SRLRALGLSF VRLLLSEIFP SKLSLLPEVD VWVQVACPRL SIDWGTAFPK 360 PLLTPYEAAV ALRDISWQQP YPMDFYAGSS LGPWTVNHGQ DRRPHAPGRP ARGKVQEGSA 420 RPPSAVACED CSCRDEKVAP LAP 443

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	Species	Evidence	Details
1:1 ortholog	DPH1		F1MGR8		Bos taurus	Prediction	More>>
1:1 ortholog	DPH1	106501727	A0A452DRF6		Capra hircus	Prediction	More>>
1:1 ortholog	DPH1	1801	Q9BZG8		Homo sapiens	Prediction	More>>
1:1 ortholog	Dph1	116905	Q5NCQ5	CPO	Mus musculus	Publication	More>>
1:1 ortholog	DPH1	454415	H2QBU9		Pan troglodytes	Prediction	More>>
1:1 ortholog	Dph1	287523	B2RYK2		Rattus norvegicus	Prediction	More>>
1:1 ortholog	dph1		F1QK18		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs371007597	p.Arg2His	missense variant	-	NC_000017.11:g.2030159G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs969706846	p.Arg2Cys	missense variant	-	NC_000017.11:g.2030158C>T	TOPMed,gnomAD
rs969706846	p.Arg2Ser	missense variant	-	NC_000017.11:g.2030158C>A	TOPMed,gnomAD
rs1167295298	p.Arg3Trp	missense variant	-	NC_000017.11:g.2030161A>T	TOPMed,gnomAD
rs1262069920	p.Gln4Arg	missense variant	-	NC_000017.11:g.2030165A>G	TOPMed
rs541900220	p.Gln4Glu	missense variant	-	NC_000017.11:g.2030164C>G	ExAC,TOPMed,gnomAD
rs1458186644	p.Val5Leu	missense variant	-	NC_000017.11:g.2030167G>T	gnomAD
rs757167361	p.Met6Lys	missense variant	-	NC_000017.11:g.2030171T>A	ExAC,TOPMed,gnomAD
rs749267261	p.Met6Leu	missense variant	-	NC_000017.11:g.2030170A>C	ExAC,gnomAD
rs757167361	p.Met6Arg	missense variant	-	NC_000017.11:g.2030171T>G	ExAC,TOPMed,gnomAD
rs757167361	p.Met6Lys	missense variant	Developmental delay with short stature, dysmorphic features, and sparse hair (DEDSSH)	NC_000017.11:g.2030171T>A	UniProt,dbSNP
VAR_076412	p.Met6Lys	missense variant	Developmental delay with short stature, dysmorphic features, and sparse hair (DEDSSH)	NC_000017.11:g.2030171T>A	UniProt
rs757167361	p.Met6Thr	missense variant	-	NC_000017.11:g.2030171T>C	ExAC,TOPMed,gnomAD
rs778705666	p.Ala7Val	missense variant	-	NC_000017.11:g.2030174C>T	ExAC,gnomAD
rs778705666	p.Ala7Val	missense variant	-	NC_000017.11:g.2030174C>T	UniProt,dbSNP
VAR_036702	p.Ala7Val	missense variant	-	NC_000017.11:g.2030174C>T	UniProt
rs772341134	p.Ala8Val	missense variant	-	NC_000017.11:g.2030177C>T	ExAC,gnomAD
rs1315794220	p.Leu9Met	missense variant	-	NC_000017.11:g.2030179C>A	gnomAD
rs1274606572	p.Leu9Pro	missense variant	-	NC_000017.11:g.2030180T>C	gnomAD
rs1259405214	p.Val10Asp	missense variant	-	NC_000017.11:g.2030183T>A	gnomAD
rs775513728	p.Val10Phe	missense variant	-	NC_000017.11:g.2030182G>T	ExAC,TOPMed,gnomAD
rs1194951668	p.Val11Leu	missense variant	-	NC_000017.11:g.2030185G>C	gnomAD
rs571457784	p.Ser12Pro	missense variant	-	NC_000017.11:g.2030188T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1474239148	p.Ser12Cys	missense variant	-	NC_000017.11:g.2030189C>G	gnomAD
rs776821196	p.Gly13Arg	missense variant	-	NC_000017.11:g.2030191G>A	ExAC,TOPMed,gnomAD
rs762458101	p.Gly13Glu	missense variant	-	NC_000017.11:g.2030192G>A	ExAC,gnomAD
rs776821196	p.Gly13Arg	missense variant	-	NC_000017.11:g.2030191G>C	ExAC,TOPMed,gnomAD
rs773741408	p.Ala14Thr	missense variant	-	NC_000017.11:g.2030194G>A	ExAC,TOPMed,gnomAD
rs773741408	p.Ala14Ser	missense variant	-	NC_000017.11:g.2030194G>T	ExAC,TOPMed,gnomAD
rs754283257	p.Ala15Val	missense variant	-	NC_000017.11:g.2030198C>T	ExAC,TOPMed,gnomAD
rs1357496457	p.Glu16Gly	missense variant	-	NC_000017.11:g.2030201A>G	TOPMed
rs375040102	p.Gln17Arg	missense variant	-	NC_000017.11:g.2030204A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1036777488	p.Gln17His	missense variant	-	NC_000017.11:g.2030205G>C	TOPMed,gnomAD
rs1285486074	p.Gln17Ter	stop gained	-	NC_000017.11:g.2030203C>T	gnomAD
rs1304425280	p.Gly18Ser	missense variant	-	NC_000017.11:g.2030206G>A	gnomAD
rs1217838504	p.Gly19Cys	missense variant	-	NC_000017.11:g.2030209G>T	gnomAD
rs757704030	p.Arg20Gln	missense variant	-	NC_000017.11:g.2030213G>A	gnomAD
rs376971506	p.Asp21Glu	missense variant	-	NC_000017.11:g.2030217C>A	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Asp21Gly	missense variant	-	NC_000017.11:g.2030216A>G	NCI-TCGA
rs1469813358	p.Gly22Arg	missense variant	-	NC_000017.11:g.2030218G>C	TOPMed,gnomAD
rs1469813358	p.Gly22Ser	missense variant	-	NC_000017.11:g.2030218G>A	TOPMed,gnomAD
rs930717263	p.Gly24Asp	missense variant	-	NC_000017.11:g.2030225G>A	TOPMed,gnomAD
rs200134501	p.Arg27Gln	missense variant	-	NC_000017.11:g.2033508G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753008362	p.Arg27Trp	missense variant	-	NC_000017.11:g.2033507C>T	ExAC,TOPMed,gnomAD
rs749351056	p.Ala28Thr	missense variant	-	NC_000017.11:g.2033510G>A	ExAC
rs1477831804	p.Pro29Ser	missense variant	-	NC_000017.11:g.2033513C>T	gnomAD
rs757712058	p.Pro29Leu	missense variant	-	NC_000017.11:g.2033514C>T	ExAC,TOPMed,gnomAD
rs746359258	p.Arg30Gln	missense variant	-	NC_000017.11:g.2033517G>A	ExAC,TOPMed,gnomAD
rs746359258	p.Arg30Leu	missense variant	-	NC_000017.11:g.2033517G>T	ExAC,TOPMed,gnomAD
rs367898997	p.Arg30Trp	missense variant	-	NC_000017.11:g.2033516C>T	ESP,ExAC,TOPMed,gnomAD
rs1384620464	p.Gly31Ala	missense variant	-	NC_000017.11:g.2033520G>C	TOPMed,gnomAD
rs1384620464	p.Gly31Val	missense variant	-	NC_000017.11:g.2033520G>T	TOPMed,gnomAD
rs772488684	p.Gly31Ser	missense variant	-	NC_000017.11:g.2033519G>A	ExAC,gnomAD
rs775796897	p.Arg32Cys	missense variant	-	NC_000017.11:g.2033522C>T	ExAC,TOPMed,gnomAD
rs1300534676	p.Arg32Leu	missense variant	-	NC_000017.11:g.2033523G>T	TOPMed,gnomAD
rs1300534676	p.Arg32His	missense variant	-	NC_000017.11:g.2033523G>A	TOPMed,gnomAD
rs769439688	p.Val33Met	missense variant	-	NC_000017.11:g.2033525G>A	ExAC,TOPMed,gnomAD
rs772628014	p.Ala34Val	missense variant	-	NC_000017.11:g.2033529C>T	ExAC,gnomAD
rs1291572300	p.Ala34Thr	missense variant	-	NC_000017.11:g.2033528G>A	gnomAD
VAR_036703	p.Ala34Asp	Missense	-	-	UniProt
rs762456641	p.Asn35Asp	missense variant	-	NC_000017.11:g.2033531A>G	ExAC,TOPMed,gnomAD
rs762456641	p.Asn35Tyr	missense variant	-	NC_000017.11:g.2033531A>T	ExAC,TOPMed,gnomAD
rs908733934	p.Gln36His	missense variant	-	NC_000017.11:g.2033536G>C	TOPMed,gnomAD
rs766239363	p.Ile37Val	missense variant	-	NC_000017.11:g.2033537A>G	ExAC,gnomAD
rs1214203163	p.Ile37Asn	missense variant	-	NC_000017.11:g.2033538T>A	TOPMed,gnomAD
rs745797930	p.Pro38Leu	missense variant	-	NC_000017.11:g.2033541C>T	ExAC,TOPMed,gnomAD
rs1170509533	p.Pro38Thr	missense variant	-	NC_000017.11:g.2033540C>A	TOPMed
rs944097537	p.Pro39Thr	missense variant	-	NC_000017.11:g.2033543C>A	TOPMed,gnomAD
rs944097537	p.Pro39Ala	missense variant	-	NC_000017.11:g.2033543C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Glu40Ter	frameshift	-	NC_000017.11:g.2033538_2033539insC	NCI-TCGA
rs181803178	p.Lys43Thr	missense variant	-	NC_000017.11:g.2033556A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs971764185	p.Lys43Asn	missense variant	-	NC_000017.11:g.2033557G>T	gnomAD
rs1255107774	p.Lys43Gln	missense variant	-	NC_000017.11:g.2033555A>C	TOPMed
rs1187745169	p.Pro45Leu	missense variant	-	NC_000017.11:g.2033562C>T	gnomAD
rs767470182	p.Pro45Ala	missense variant	-	NC_000017.11:g.2033561C>G	ExAC,gnomAD
rs186486757	p.Gln46Lys	missense variant	-	NC_000017.11:g.2033564C>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM976415	p.Gln48His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.2033572G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala50Val	missense variant	-	NC_000017.11:g.2033577C>T	NCI-TCGA
rs758225925	p.Ile51Phe	missense variant	-	NC_000017.11:g.2033579A>T	TOPMed,gnomAD
rs758225925	p.Ile51Val	missense variant	-	NC_000017.11:g.2033579A>G	TOPMed,gnomAD
rs566200844	p.Arg52Gly	missense variant	-	NC_000017.11:g.2033582C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs202050177	p.Arg52Gln	missense variant	-	NC_000017.11:g.2033583G>A	ExAC,TOPMed,gnomAD
rs566200844	p.Arg52Trp	missense variant	-	NC_000017.11:g.2033582C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs140382122	p.Asn57Ser	missense variant	-	NC_000017.11:g.2033598A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1404359429	p.Asn59Tyr	missense variant	-	NC_000017.11:g.2033603A>T	gnomAD
rs746410604	p.Ile62Val	missense variant	-	NC_000017.11:g.2033612A>G	ExAC,gnomAD
rs758877212	p.Thr65Ala	missense variant	-	NC_000017.11:g.2033621A>G	ExAC,TOPMed,gnomAD
rs780417889	p.Ile66Thr	missense variant	-	NC_000017.11:g.2033625T>C	ExAC,gnomAD
COSM6080393	p.Arg68Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.2033632G>T	NCI-TCGA Cosmic
rs1311244562	p.Gln70Glu	missense variant	-	NC_000017.11:g.2033636C>G	gnomAD
rs769334106	p.Ala72Ser	missense variant	-	NC_000017.11:g.2033642G>T	ExAC,TOPMed,gnomAD
rs769334106	p.Ala72Thr	missense variant	-	NC_000017.11:g.2033642G>A	ExAC,TOPMed,gnomAD
rs931835027	p.Ala74Val	missense variant	-	NC_000017.11:g.2033649C>T	TOPMed,gnomAD
rs777425510	p.Lys75Glu	missense variant	-	NC_000017.11:g.2033651A>G	ExAC,TOPMed,gnomAD
rs748890388	p.Lys75Asn	missense variant	-	NC_000017.11:g.2033653G>C	ExAC,TOPMed,gnomAD
rs1422329131	p.Lys76Thr	missense variant	-	NC_000017.11:g.2033655A>C	TOPMed
rs1249345630	p.Lys76Asn	missense variant	-	NC_000017.11:g.2033656G>C	TOPMed,gnomAD
rs1467251634	p.Ala78Val	missense variant	-	NC_000017.11:g.2033782C>T	TOPMed,gnomAD
rs1467251634	p.Ala78Gly	missense variant	-	NC_000017.11:g.2033782C>G	TOPMed,gnomAD
rs745315997	p.Leu79Phe	missense variant	-	NC_000017.11:g.2033786G>T	ExAC,gnomAD
rs376646460	p.Gln80Glu	missense variant	-	NC_000017.11:g.2033787C>G	ESP,ExAC,TOPMed,gnomAD
rs376646460	p.Gln80Ter	stop gained	-	NC_000017.11:g.2033787C>T	ESP,ExAC,TOPMed,gnomAD
rs760522373	p.Met81Ile	missense variant	-	NC_000017.11:g.2033792G>C	ExAC,TOPMed,gnomAD
rs760522373	p.Met81Ile	missense variant	-	NC_000017.11:g.2033792G>T	ExAC,TOPMed,gnomAD
rs776264126	p.Pro82Leu	missense variant	-	NC_000017.11:g.2033794C>T	ExAC,gnomAD
rs776264126	p.Pro82Gln	missense variant	-	NC_000017.11:g.2033794C>A	ExAC,gnomAD
rs750506695	p.Leu86Phe	missense variant	-	NC_000017.11:g.2033805C>T	ExAC,gnomAD
rs762961272	p.Leu87Val	missense variant	-	NC_000017.11:g.2033808C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr91Ile	missense variant	-	NC_000017.11:g.2033821C>T	NCI-TCGA
rs1285524776	p.Asp94Gly	missense variant	-	NC_000017.11:g.2033830A>G	TOPMed
rs377576085	p.Ile95Val	missense variant	-	NC_000017.11:g.2033832A>G	ESP,TOPMed,gnomAD
rs562021738	p.Glu97Gly	missense variant	-	NC_000017.11:g.2033839A>G	1000Genomes
rs766432888	p.Arg98Thr	missense variant	-	NC_000017.11:g.2033842G>C	ExAC,gnomAD
rs750137688	p.Thr100Met	missense variant	-	NC_000017.11:g.2035975C>T	ExAC,gnomAD
rs1187226519	p.Ala102Thr	missense variant	-	NC_000017.11:g.2035980G>A	TOPMed
rs746459215	p.Glu103Lys	missense variant	-	NC_000017.11:g.2035983G>A	ExAC,gnomAD
rs201053980	p.Val104Gly	missense variant	-	NC_000017.11:g.2035987T>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val106Leu	missense variant	-	NC_000017.11:g.2035992G>T	NCI-TCGA
rs780933620	p.Val106Met	missense variant	-	NC_000017.11:g.2035992G>A	ExAC,gnomAD
rs1298270053	p.Met107Lys	missense variant	-	NC_000017.11:g.2035996T>A	gnomAD
rs1358004644	p.Asp109His	missense variant	-	NC_000017.11:g.2036001G>C	gnomAD
rs769642605	p.Val110Met	missense variant	-	NC_000017.11:g.2036004G>A	ExAC,TOPMed,gnomAD
rs772969956	p.Tyr112Cys	missense variant	-	NC_000017.11:g.2036011A>G	ExAC,gnomAD
rs1356461308	p.Gly113Arg	missense variant	-	NC_000017.11:g.2036013G>A	TOPMed,gnomAD
COSM122688	p.Val117Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.2036025G>T	NCI-TCGA Cosmic
rs1310470027	p.Asp119Val	missense variant	-	NC_000017.11:g.2036032A>T	gnomAD
rs565122512	p.Asp119Asn	missense variant	-	NC_000017.11:g.2036031G>A	1000Genomes,ExAC,gnomAD
rs373595133	p.Ala122Val	missense variant	-	NC_000017.11:g.2036041C>T	ESP,ExAC,TOPMed,gnomAD
rs767626210	p.Arg123Thr	missense variant	-	NC_000017.11:g.2036044G>C	ExAC,gnomAD
rs372069295	p.Ala124Pro	missense variant	-	NC_000017.11:g.2036046G>C	ESP,ExAC,TOPMed,gnomAD
rs372069295	p.Ala124Thr	missense variant	-	NC_000017.11:g.2036046G>A	ESP,ExAC,TOPMed,gnomAD
rs372069295	p.Ala124Ser	missense variant	-	NC_000017.11:g.2036046G>T	ESP,ExAC,TOPMed,gnomAD
rs200530055	p.Leu125Pro	missense variant	-	NC_000017.11:g.2036050T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala127Ser	missense variant	-	NC_000017.11:g.2036055G>T	NCI-TCGA
rs1424399161	p.Asp128Asn	missense variant	-	NC_000017.11:g.2036058G>A	gnomAD
rs764599628	p.Phe129Cys	missense variant	-	NC_000017.11:g.2036062T>G	ExAC,gnomAD
rs544502349	p.Leu130Phe	missense variant	-	NC_000017.11:g.2036066G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs371906435	p.Leu130Trp	missense variant	-	NC_000017.11:g.2036065T>G	ESP,ExAC,gnomAD
rs544502349	p.Leu130Phe	missense variant	-	NC_000017.11:g.2036066G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1328883333	p.Val131Gly	missense variant	-	NC_000017.11:g.2036068T>G	TOPMed,gnomAD
rs1445671185	p.Val131Met	missense variant	-	NC_000017.11:g.2036067G>A	gnomAD
rs1379509207	p.His132Arg	missense variant	-	NC_000017.11:g.2036071A>G	gnomAD
rs1379509207	p.His132Pro	missense variant	-	NC_000017.11:g.2036071A>C	gnomAD
rs746715446	p.Gly134Ser	missense variant	-	NC_000017.11:g.2036076G>A	ExAC,TOPMed,gnomAD
rs1220991810	p.Gly134Asp	missense variant	-	NC_000017.11:g.2036077G>A	gnomAD
rs780748075	p.Ser136Arg	missense variant	-	NC_000017.11:g.2036082A>C	ExAC,gnomAD
rs752616074	p.Cys137Phe	missense variant	-	NC_000017.11:g.2036086G>T	ExAC,gnomAD
rs1260250895	p.Leu138Pro	missense variant	-	NC_000017.11:g.2036089T>C	TOPMed,gnomAD
rs1443835714	p.Pro140Ala	missense variant	-	NC_000017.11:g.2036531C>G	gnomAD
NCI-TCGA novel	p.Pro140Leu	missense variant	-	NC_000017.11:g.2036532C>T	NCI-TCGA
rs375634576	p.Met141Thr	missense variant	-	NC_000017.11:g.2036535T>C	ESP,ExAC,TOPMed,gnomAD
rs1237883882	p.Asp142Gly	missense variant	-	NC_000017.11:g.2036538A>G	gnomAD
rs780362870	p.Ser144Leu	missense variant	-	NC_000017.11:g.2036544C>T	ExAC,TOPMed,gnomAD
rs1170946538	p.Gln146Ter	stop gained	-	NC_000017.11:g.2036549C>T	gnomAD
rs755173746	p.Asp147Glu	missense variant	-	NC_000017.11:g.2036554C>G	ExAC,TOPMed,gnomAD
rs1039354525	p.Phe148Leu	missense variant	-	NC_000017.11:g.2036557C>G	TOPMed
rs1277992934	p.Phe148Cys	missense variant	-	NC_000017.11:g.2036556T>G	gnomAD
rs202044246	p.Arg149Gln	missense variant	-	NC_000017.11:g.2036559G>A	ExAC,TOPMed,gnomAD
rs201399054	p.Arg149Trp	missense variant	-	NC_000017.11:g.2036558C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1444331682	p.Tyr152Cys	missense variant	-	NC_000017.11:g.2036568A>G	gnomAD
rs1022631968	p.Val153Ile	missense variant	-	NC_000017.11:g.2036570G>A	TOPMed,gnomAD
rs1336318320	p.Val155Met	missense variant	-	NC_000017.11:g.2036576G>A	gnomAD
rs770297106	p.Ile157Thr	missense variant	-	NC_000017.11:g.2036583T>C	ExAC,gnomAD
rs749610533	p.Arg158Gln	missense variant	-	NC_000017.11:g.2036586G>A	ExAC,TOPMed,gnomAD
rs773453810	p.Arg158Gly	missense variant	-	NC_000017.11:g.2036585C>G	ExAC,gnomAD
rs773453810	p.Arg158Trp	missense variant	-	NC_000017.11:g.2036585C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ile159Thr	missense variant	-	NC_000017.11:g.2036589T>C	NCI-TCGA
rs1456020025	p.Thr161Ile	missense variant	-	NC_000017.11:g.2036595C>T	gnomAD
rs1253049535	p.Thr161Pro	missense variant	-	NC_000017.11:g.2036594A>C	gnomAD
rs1162708861	p.Thr162Ala	missense variant	-	NC_000017.11:g.2036597A>G	TOPMed
rs116911386	p.Thr162Ile	missense variant	-	NC_000017.11:g.2036598C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1418382474	p.His163Tyr	missense variant	-	NC_000017.11:g.2036600C>T	TOPMed
rs1394874389	p.Leu164Phe	missense variant	-	NC_000017.11:g.2036603C>T	TOPMed,gnomAD
rs544360782	p.Asp166His	missense variant	-	NC_000017.11:g.2036609G>C	1000Genomes,ExAC,gnomAD
rs1451144327	p.Ser167Phe	missense variant	-	NC_000017.11:g.2036613C>T	TOPMed
rs761683075	p.Arg169His	missense variant	-	NC_000017.11:g.2036619G>A	ExAC,TOPMed,gnomAD
rs776074424	p.Arg169Cys	missense variant	-	NC_000017.11:g.2036618C>T	ExAC,TOPMed,gnomAD
COSM3515044	p.Leu170Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.2036621C>T	NCI-TCGA Cosmic
rs765151022	p.Thr171Pro	missense variant	-	NC_000017.11:g.2036624A>C	ExAC,gnomAD
rs765151022	p.Thr171Ala	missense variant	-	NC_000017.11:g.2036624A>G	ExAC,gnomAD
rs766270807	p.Ala175Val	missense variant	-	NC_000017.11:g.2036637C>T	ExAC
rs1016372873	p.Ala177Val	missense variant	-	NC_000017.11:g.2036643C>T	TOPMed
rs755228920	p.Leu178Phe	missense variant	-	NC_000017.11:g.2036645C>T	ExAC,TOPMed,gnomAD
rs781444004	p.Ala179Thr	missense variant	-	NC_000017.11:g.2036648G>A	ExAC,gnomAD
rs756592857	p.Ser182Gly	missense variant	-	NC_000017.11:g.2036657A>G	ExAC,TOPMed,gnomAD
rs756592857	p.Ser182Arg	missense variant	-	NC_000017.11:g.2036657A>C	ExAC,TOPMed,gnomAD
rs749756099	p.Ile184Val	missense variant	-	NC_000017.11:g.2036663A>G	ExAC,TOPMed,gnomAD
rs771328431	p.Gln185Arg	missense variant	-	NC_000017.11:g.2036667A>G	ExAC,gnomAD
rs1252328972	p.Thr189Ile	missense variant	-	NC_000017.11:g.2036679C>T	gnomAD
rs746690628	p.Gln191Ter	stop gained	-	NC_000017.11:g.2036684C>T	ExAC,gnomAD
rs1239986247	p.Ala193Pro	missense variant	-	NC_000017.11:g.2036838G>C	gnomAD
rs1239986247	p.Ala193Ser	missense variant	-	NC_000017.11:g.2036838G>T	gnomAD
rs774301723	p.Ala193Val	missense variant	-	NC_000017.11:g.2036839C>T	ExAC,gnomAD
rs767417481	p.Ala194Ser	missense variant	-	NC_000017.11:g.2036841G>T	ExAC,TOPMed,gnomAD
rs767417481	p.Ala194Thr	missense variant	-	NC_000017.11:g.2036841G>A	ExAC,TOPMed,gnomAD
rs1482434553	p.Leu197Arg	missense variant	-	NC_000017.11:g.2036851T>G	gnomAD
rs757770038	p.Glu200Lys	missense variant	-	NC_000017.11:g.2036859G>A	ExAC,TOPMed,gnomAD
rs200118205	p.Arg202Cys	missense variant	-	NC_000017.11:g.2036865C>T	ESP,ExAC,TOPMed,gnomAD
rs750913192	p.Arg202His	missense variant	-	NC_000017.11:g.2036866G>A	ExAC,gnomAD
rs1212799600	p.Gln207Ter	stop gained	-	NC_000017.11:g.2036880C>T	TOPMed
rs1270597916	p.Cys208Ter	stop gained	-	NC_000017.11:g.2036885C>A	TOPMed
rs373361726	p.Pro213Ala	missense variant	-	NC_000017.11:g.2036898C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1358202828	p.Pro213Leu	missense variant	-	NC_000017.11:g.2036899C>T	gnomAD
rs373361726	p.Pro213Ser	missense variant	-	NC_000017.11:g.2036898C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780248962	p.Gly214Val	missense variant	-	NC_000017.11:g.2036902G>T	ExAC,gnomAD
rs780248962	p.Gly214Glu	missense variant	-	NC_000017.11:g.2036902G>A	ExAC,gnomAD
rs993587773	p.Thr220Ile	missense variant	-	NC_000017.11:g.2036920C>T	TOPMed
rs769281060	p.Ser221Pro	missense variant	-	NC_000017.11:g.2036922T>C	ExAC
rs777373716	p.Pro222His	missense variant	-	NC_000017.11:g.2036926C>A	ExAC,TOPMed,gnomAD
rs1185902827	p.Arg223Gly	missense variant	-	NC_000017.11:g.2036928C>G	TOPMed,gnomAD
rs201266276	p.Arg223Gln	missense variant	-	NC_000017.11:g.2036929G>A	ESP,ExAC,TOPMed,gnomAD
rs201266276	p.Arg223Pro	missense variant	-	NC_000017.11:g.2036929G>C	ESP,ExAC,TOPMed,gnomAD
rs1185902827	p.Arg223Ter	stop gained	-	NC_000017.11:g.2036928C>T	TOPMed,gnomAD
rs1131600	p.Lys226Arg	missense variant	-	NC_000017.11:g.2036938A>G	UniProt,dbSNP
VAR_055706	p.Lys226Arg	missense variant	-	NC_000017.11:g.2036938A>G	UniProt
rs1131600	p.Lys226Arg	missense variant	-	NC_000017.11:g.2036938A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1474450764	p.Lys226Glu	missense variant	-	NC_000017.11:g.2036937A>G	TOPMed
rs1131600	p.Lys226Thr	missense variant	-	NC_000017.11:g.2036938A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1212443230	p.Glu227Asp	missense variant	-	NC_000017.11:g.2036942G>C	gnomAD
rs771954738	p.Glu229Lys	missense variant	-	NC_000017.11:g.2036946G>A	ExAC,gnomAD
rs1197819341	p.Ala230Thr	missense variant	-	NC_000017.11:g.2036949G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala230Val	missense variant	-	NC_000017.11:g.2036950C>T	NCI-TCGA
rs200008890	p.Val231Ile	missense variant	-	NC_000017.11:g.2036952G>A	ESP,ExAC,TOPMed,gnomAD
rs1177268476	p.Val232Met	missense variant	-	NC_000017.11:g.2036955G>A	gnomAD
rs730882250	p.Leu234Pro	missense variant	-	NC_000017.11:g.2039760T>C	ExAC,TOPMed,gnomAD
rs775363797	p.Leu234Ile	missense variant	-	NC_000017.11:g.2039759C>A	ExAC,TOPMed,gnomAD
rs730882250	p.Leu234Arg	missense variant	-	NC_000017.11:g.2039760T>G	ExAC,TOPMed,gnomAD
rs768480996	p.Asp236Glu	missense variant	-	NC_000017.11:g.2039767T>G	ExAC,TOPMed,gnomAD
rs1422021128	p.Gly237Ser	missense variant	-	NC_000017.11:g.2039768G>A	TOPMed,gnomAD
rs541454915	p.Arg238His	missense variant	-	NC_000017.11:g.2039772G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs948891689	p.Arg238Cys	missense variant	-	NC_000017.11:g.2039771C>T	gnomAD
NCI-TCGA novel	p.Arg238Ser	missense variant	-	NC_000017.11:g.2039771C>A	NCI-TCGA
rs761990254	p.Phe239Leu	missense variant	-	NC_000017.11:g.2039776C>G	ExAC,gnomAD
rs765348233	p.His240Arg	missense variant	-	NC_000017.11:g.2039778A>G	ExAC,gnomAD
rs773227112	p.Leu241Val	missense variant	-	NC_000017.11:g.2039780C>G	ExAC,gnomAD
rs1188955034	p.Met245Val	missense variant	-	NC_000017.11:g.2039792A>G	gnomAD
rs763545692	p.Met245Thr	missense variant	-	NC_000017.11:g.2039793T>C	ExAC,gnomAD
rs766728635	p.Ile246Phe	missense variant	-	NC_000017.11:g.2039795A>T	ExAC,TOPMed,gnomAD
rs80150196	p.Pro249Arg	missense variant	-	NC_000017.11:g.2039805C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368142873	p.Asn250Ser	missense variant	-	NC_000017.11:g.2039808A>G	ESP,ExAC,gnomAD
rs373680734	p.Asn250His	missense variant	-	NC_000017.11:g.2039807A>C	ESP,ExAC,TOPMed,gnomAD
rs201609069	p.Val251Ile	missense variant	-	NC_000017.11:g.2039810G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371816907	p.Ala253Ser	missense variant	-	NC_000017.11:g.2039816G>T	ESP,ExAC,TOPMed,gnomAD
rs371816907	p.Ala253Thr	missense variant	-	NC_000017.11:g.2039816G>A	ESP,ExAC,TOPMed,gnomAD
rs746958259	p.Arg255Trp	missense variant	-	NC_000017.11:g.2039822C>T	ExAC,TOPMed,gnomAD
rs756883293	p.Arg255Gln	missense variant	-	NC_000017.11:g.2039823G>A	TOPMed,gnomAD
rs376149801	p.Asp257Asn	missense variant	-	NC_000017.11:g.2040222G>A	1000Genomes,ESP,ExAC,gnomAD
rs772642973	p.Tyr259Ser	missense variant	-	NC_000017.11:g.2040229A>C	ExAC,gnomAD
rs200693145	p.Ser260Gly	missense variant	-	NC_000017.11:g.2040231A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761184411	p.Ser264Phe	missense variant	-	NC_000017.11:g.2040244C>T	ExAC,TOPMed,gnomAD
rs1489989945	p.Arg265Thr	missense variant	-	NC_000017.11:g.2040247G>C	TOPMed
rs750079556	p.His267Gln	missense variant	-	NC_000017.11:g.2040254C>G	ExAC,gnomAD
rs764544562	p.His267Tyr	missense variant	-	NC_000017.11:g.2040252C>T	ExAC,gnomAD
NCI-TCGA novel	p.His267Pro	missense variant	-	NC_000017.11:g.2040253A>C	NCI-TCGA
rs1350431682	p.Tyr268Cys	missense variant	-	NC_000017.11:g.2040256A>G	gnomAD
rs961569165	p.His270Asp	missense variant	-	NC_000017.11:g.2040261C>G	TOPMed
rs961569165	p.His270Tyr	missense variant	-	NC_000017.11:g.2040261C>T	TOPMed
rs751038673	p.Gln271His	missense variant	-	NC_000017.11:g.2040266G>C	ExAC,gnomAD
rs142800357	p.Gln271Arg	missense variant	-	NC_000017.11:g.2040265A>G	1000Genomes,ExAC,gnomAD
rs754912345	p.Arg272Gly	missense variant	-	NC_000017.11:g.2040267C>G	ExAC,TOPMed,gnomAD
rs754912345	p.Arg272Cys	missense variant	-	NC_000017.11:g.2040267C>T	ExAC,TOPMed,gnomAD
rs1184605738	p.Arg272Pro	missense variant	-	NC_000017.11:g.2040268G>C	gnomAD
NCI-TCGA novel	p.Arg272His	missense variant	-	NC_000017.11:g.2040268G>A	NCI-TCGA
rs1316762005	p.Met273Thr	missense variant	-	NC_000017.11:g.2040271T>C	TOPMed
rs781049218	p.Gln274Glu	missense variant	-	NC_000017.11:g.2040273C>G	ExAC,gnomAD
rs752617255	p.Gln274His	missense variant	-	NC_000017.11:g.2040275G>C	ExAC,TOPMed,gnomAD
rs1170993707	p.Ala275Ser	missense variant	-	NC_000017.11:g.2040276G>T	gnomAD
rs755943395	p.Ala276Ser	missense variant	-	NC_000017.11:g.2040279G>T	ExAC,gnomAD
rs777523242	p.Arg277Cys	missense variant	-	NC_000017.11:g.2040282C>T	ExAC,TOPMed,gnomAD
rs373627981	p.Arg277His	missense variant	-	NC_000017.11:g.2040283G>A	ESP,ExAC,TOPMed,gnomAD
rs920180071	p.Gln278Ter	stop gained	-	NC_000017.11:g.2040285C>T	TOPMed
rs771147345	p.Glu279Lys	missense variant	-	NC_000017.11:g.2040288G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu279Ter	stop gained	-	NC_000017.11:g.2040288G>T	NCI-TCGA
rs1403822856	p.Ala280Thr	missense variant	-	NC_000017.11:g.2040291G>A	TOPMed
rs1389539357	p.Ile281Thr	missense variant	-	NC_000017.11:g.2040295T>C	gnomAD
rs1484851538	p.Ile281Val	missense variant	-	NC_000017.11:g.2040294A>G	gnomAD
rs778865858	p.Ala282Val	missense variant	-	NC_000017.11:g.2040298C>T	ExAC,TOPMed,gnomAD
rs778865858	p.Ala282Gly	missense variant	-	NC_000017.11:g.2040298C>G	ExAC,TOPMed,gnomAD
rs1231931920	p.Ala284Val	missense variant	-	NC_000017.11:g.2040304C>T	gnomAD
rs201377046	p.Ala284Thr	missense variant	-	NC_000017.11:g.2040303G>A	ESP,ExAC,TOPMed,gnomAD
rs187721672	p.Arg285Leu	missense variant	-	NC_000017.11:g.2040307G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs187721672	p.Arg285His	missense variant	-	NC_000017.11:g.2040307G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs772268457	p.Arg285Cys	missense variant	-	NC_000017.11:g.2040306C>T	ExAC,TOPMed,gnomAD
rs772268457	p.Arg285Ser	missense variant	-	NC_000017.11:g.2040306C>A	ExAC,TOPMed,gnomAD
rs199982638	p.Ala287Ser	missense variant	-	NC_000017.11:g.2040312G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1402629649	p.Lys288Thr	missense variant	-	NC_000017.11:g.2040316A>C	TOPMed
rs879028374	p.Lys288Glu	missense variant	-	NC_000017.11:g.2040315A>G	-
rs1251903911	p.Ser289Tyr	missense variant	-	NC_000017.11:g.2040319C>A	gnomAD
COSM3515046	p.Ser289Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.2040319C>T	NCI-TCGA Cosmic
rs1361949073	p.Trp290Arg	missense variant	-	NC_000017.11:g.2040321T>C	gnomAD
rs777008232	p.Gly291Cys	missense variant	-	NC_000017.11:g.2040324G>T	ExAC,gnomAD
rs765991972	p.Leu294Val	missense variant	-	NC_000017.11:g.2040333C>G	ExAC,gnomAD
rs1175776806	p.Gly295Cys	missense variant	-	NC_000017.11:g.2040336G>T	TOPMed
NCI-TCGA novel	p.Gly295Asp	missense variant	-	NC_000017.11:g.2040337G>A	NCI-TCGA
rs766983322	p.Thr296Ser	missense variant	-	NC_000017.11:g.2040339A>T	ExAC,gnomAD
rs1271671967	p.Leu297Val	missense variant	-	NC_000017.11:g.2040342T>G	TOPMed
rs752680359	p.Leu297Ser	missense variant	-	NC_000017.11:g.2040343T>C	ExAC,TOPMed,gnomAD
rs1385721178	p.Leu297Phe	missense variant	-	NC_000017.11:g.2040344G>T	gnomAD
rs201983229	p.Arg299Leu	missense variant	-	NC_000017.11:g.2040349G>T	ESP,ExAC,TOPMed,gnomAD
rs1300818097	p.Arg299Cys	missense variant	-	NC_000017.11:g.2040348C>T	gnomAD
rs201983229	p.Arg299His	missense variant	-	NC_000017.11:g.2040349G>A	ESP,ExAC,TOPMed,gnomAD
rs1377046363	p.Ser302Thr	missense variant	-	NC_000017.11:g.2040358G>C	gnomAD
rs1405115549	p.Pro303Ser	missense variant	-	NC_000017.11:g.2040360C>T	TOPMed,gnomAD
rs1318295336	p.Ile305Leu	missense variant	-	NC_000017.11:g.2040366A>C	TOPMed
rs371066962	p.Arg312Ter	stop gained	-	NC_000017.11:g.2040517C>T	ESP,TOPMed,gnomAD
rs764906514	p.Arg312Gln	missense variant	-	NC_000017.11:g.2040518G>A	ExAC,gnomAD
rs750726709	p.Arg314Ter	stop gained	-	NC_000017.11:g.2040523C>T	ExAC,TOPMed,gnomAD
rs61757361	p.Arg314Gln	missense variant	-	NC_000017.11:g.2040524G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs990620472	p.Leu316Val	missense variant	-	NC_000017.11:g.2040529T>G	TOPMed,gnomAD
rs201891404	p.Leu316Phe	missense variant	-	NC_000017.11:g.2040531G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755455275	p.Gly317Ser	missense variant	-	NC_000017.11:g.2040532G>A	ExAC,gnomAD
rs781752622	p.Ser319Phe	missense variant	-	NC_000017.11:g.2040539C>T	ExAC,TOPMed,gnomAD
rs781752622	p.Ser319Cys	missense variant	-	NC_000017.11:g.2040539C>G	ExAC,TOPMed,gnomAD
rs199664244	p.Val321Leu	missense variant	-	NC_000017.11:g.2040544G>T	ESP,ExAC,TOPMed,gnomAD
rs745550380	p.Arg322Met	missense variant	-	NC_000017.11:g.2040548G>T	ExAC,gnomAD
rs1255660855	p.Leu325Val	missense variant	-	NC_000017.11:g.2040556C>G	TOPMed,gnomAD
rs200849211	p.Glu327Gln	missense variant	-	NC_000017.11:g.2040562G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs760232816	p.Phe329Leu	missense variant	-	NC_000017.11:g.2040570C>G	ExAC,gnomAD
rs1257899654	p.Pro330Arg	missense variant	-	NC_000017.11:g.2040572C>G	TOPMed
rs768044127	p.Ser334Arg	missense variant	-	NC_000017.11:g.2040585C>G	ExAC,gnomAD
rs35394823	p.Leu335Val	missense variant	-	NC_000017.11:g.2040586C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1405094341	p.Pro337His	missense variant	-	NC_000017.11:g.2040593C>A	gnomAD
rs761637932	p.Pro337Ala	missense variant	-	NC_000017.11:g.2040592C>G	ExAC,TOPMed,gnomAD
rs375530492	p.Glu338Lys	missense variant	-	NC_000017.11:g.2040595G>A	ESP,ExAC,TOPMed,gnomAD
rs1049924857	p.Glu338Val	missense variant	-	NC_000017.11:g.2040596A>T	TOPMed
rs565199226	p.Val339Met	missense variant	-	NC_000017.11:g.2040598G>A	1000Genomes,ExAC,gnomAD
rs1468544871	p.Val339Glu	missense variant	-	NC_000017.11:g.2040599T>A	gnomAD
rs766652021	p.Val341Leu	missense variant	-	NC_000017.11:g.2040604G>T	ExAC,gnomAD
rs375928860	p.Gln344Ter	stop gained	-	NC_000017.11:g.2041110C>T	ESP,ExAC,TOPMed,gnomAD
rs1410951723	p.Ala346Val	missense variant	-	NC_000017.11:g.2041117C>T	gnomAD
rs773156519	p.Ala346Thr	missense variant	-	NC_000017.11:g.2041116G>A	ExAC,gnomAD
rs368892850	p.Cys347Arg	missense variant	-	NC_000017.11:g.2041119T>C	ESP
rs762901546	p.Pro348Ser	missense variant	-	NC_000017.11:g.2041122C>T	ExAC,gnomAD
rs762901546	p.Pro348Thr	missense variant	-	NC_000017.11:g.2041122C>A	ExAC,gnomAD
rs1426663085	p.Leu350His	missense variant	-	NC_000017.11:g.2041129T>A	TOPMed,gnomAD
rs1426663085	p.Leu350Pro	missense variant	-	NC_000017.11:g.2041129T>C	TOPMed,gnomAD
rs766272832	p.Ile352Thr	missense variant	-	NC_000017.11:g.2041135T>C	ExAC,TOPMed,gnomAD
rs1326123384	p.Ile352Val	missense variant	-	NC_000017.11:g.2041134A>G	TOPMed,gnomAD
rs1268269711	p.Trp354Ter	stop gained	-	NC_000017.11:g.2041141G>A	gnomAD
rs751871471	p.Trp354Cys	missense variant	-	NC_000017.11:g.2041142G>T	ExAC,gnomAD
rs1369283730	p.Gly355Asp	missense variant	-	NC_000017.11:g.2041144G>A	gnomAD
rs750030837	p.Gly355Ser	missense variant	-	NC_000017.11:g.2041143G>A	ExAC,gnomAD
rs767665310	p.Thr356Ile	missense variant	-	NC_000017.11:g.2041147C>T	ExAC,TOPMed,gnomAD
rs985735275	p.Ala357Thr	missense variant	-	NC_000017.11:g.2041149G>A	TOPMed,gnomAD
rs985735275	p.Ala357Ser	missense variant	-	NC_000017.11:g.2041149G>T	TOPMed,gnomAD
rs911392161	p.Phe358Tyr	missense variant	-	NC_000017.11:g.2041153T>A	TOPMed
rs1244140975	p.Pro359Ala	missense variant	-	NC_000017.11:g.2041155C>G	gnomAD
rs764640116	p.Pro359Leu	missense variant	-	NC_000017.11:g.2041156C>T	ExAC,TOPMed
rs764640116	p.Pro359His	missense variant	-	NC_000017.11:g.2041156C>A	ExAC,TOPMed
rs1183479654	p.Pro361Arg	missense variant	-	NC_000017.11:g.2041162C>G	gnomAD
rs1183479654	p.Pro361Gln	missense variant	-	NC_000017.11:g.2041162C>A	gnomAD
rs946831949	p.Pro365Ser	missense variant	-	NC_000017.11:g.2041173C>T	TOPMed
rs377571866	p.Tyr366Cys	missense variant	-	NC_000017.11:g.2041177A>G	ESP,ExAC,TOPMed,gnomAD
rs779223248	p.Glu367Lys	missense variant	-	NC_000017.11:g.2041179G>A	ExAC,gnomAD
rs200205951	p.Ala368Val	missense variant	-	NC_000017.11:g.2041482C>T	ExAC,TOPMed,gnomAD
rs774207534	p.Ala369Val	missense variant	-	NC_000017.11:g.2041485C>T	ExAC,gnomAD
rs200231675	p.Val370Met	missense variant	-	NC_000017.11:g.2041487G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1426878947	p.Val370Ala	missense variant	-	NC_000017.11:g.2041488T>C	gnomAD
rs200231675	p.Val370Leu	missense variant	-	NC_000017.11:g.2041487G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1173062014	p.Ala371Val	missense variant	-	NC_000017.11:g.2041491C>T	gnomAD
rs1330385795	p.Asp374Tyr	missense variant	-	NC_000017.11:g.2041499G>T	gnomAD
rs775611935	p.Ile375Leu	missense variant	-	NC_000017.11:g.2041502A>C	ExAC,TOPMed,gnomAD
rs376712518	p.Ser376Tyr	missense variant	-	NC_000017.11:g.2041506C>A	ESP,ExAC,TOPMed,gnomAD
rs1249583285	p.Ser376Thr	missense variant	-	NC_000017.11:g.2041505T>A	TOPMed
rs376712518	p.Ser376Phe	missense variant	-	NC_000017.11:g.2041506C>T	ESP,ExAC,TOPMed,gnomAD
rs764177982	p.Gln378Arg	missense variant	-	NC_000017.11:g.2041512A>G	ExAC,gnomAD
rs762316174	p.Gln379His	missense variant	-	NC_000017.11:g.2041516G>T	ExAC,TOPMed,gnomAD
rs776656445	p.Gln379Arg	missense variant	-	NC_000017.11:g.2041515A>G	ExAC,gnomAD
rs776656445	p.Gln379Leu	missense variant	-	NC_000017.11:g.2041515A>T	ExAC,gnomAD
rs1251232140	p.Pro380Arg	missense variant	-	NC_000017.11:g.2041518C>G	gnomAD
rs567642658	p.Pro382Gln	missense variant	-	NC_000017.11:g.2041524C>A	1000Genomes,ExAC,gnomAD
rs567642658	p.Pro382Leu	missense variant	-	NC_000017.11:g.2041524C>T	1000Genomes,ExAC,gnomAD
rs765677788	p.Pro382Ser	missense variant	-	NC_000017.11:g.2041523C>T	ExAC,gnomAD
rs766737127	p.Met383Ile	missense variant	-	NC_000017.11:g.2041528G>A	ExAC,gnomAD
rs897681123	p.Met383Thr	missense variant	-	NC_000017.11:g.2041527T>C	TOPMed,gnomAD
rs752342224	p.Asp384Ala	missense variant	-	NC_000017.11:g.2041530A>C	ExAC,gnomAD
rs1199383902	p.Phe385Tyr	missense variant	-	NC_000017.11:g.2041533T>A	gnomAD
rs1372425833	p.Phe385Leu	missense variant	-	NC_000017.11:g.2041534C>A	gnomAD
rs1051547513	p.Tyr386Ter	stop gained	-	NC_000017.11:g.2041537C>G	TOPMed,gnomAD
rs536213032	p.Tyr386His	missense variant	-	NC_000017.11:g.2041535T>C	1000Genomes,TOPMed
rs777425338	p.Ala387Val	missense variant	-	NC_000017.11:g.2041539C>T	ExAC,gnomAD
rs374664554	p.Ser389Thr	missense variant	-	NC_000017.11:g.2041545G>C	ESP,TOPMed
VAR_036705	p.Ser389Arg	Missense	-	-	UniProt
rs1300879082	p.Leu391Met	missense variant	-	NC_000017.11:g.2041550T>A	TOPMed,gnomAD
rs1161857912	p.Pro393Ser	missense variant	-	NC_000017.11:g.2041556C>T	TOPMed
rs778119971	p.Thr395Met	missense variant	-	NC_000017.11:g.2041563C>T	ExAC,TOPMed,gnomAD
rs1422296759	p.Thr395Ala	missense variant	-	NC_000017.11:g.2041562A>G	gnomAD
rs202219075	p.Asn397Lys	missense variant	-	NC_000017.11:g.2041570C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn397Ter	stop gained	-	NC_000017.11:g.2041567_2041568insTAGTTTGTTTTTTTTTCTTTTTTTTTGGAGAC	NCI-TCGA
rs768803619	p.His398Tyr	missense variant	-	NC_000017.11:g.2041571C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly399AlaPheSerTerUnkUnkUnk	frameshift	-	NC_000017.11:g.2041574_2041575insCCTCACCT	NCI-TCGA
NCI-TCGA novel	p.Gln400ProPheSerTerUnk	stop gained	-	NC_000017.11:g.2041576_2041577insCCTGGTTGATGTTGATGCTGTT	NCI-TCGA
rs200625064	p.Gln400Ter	stop gained	-	NC_000017.11:g.2041577C>T	ESP,ExAC,TOPMed,gnomAD
rs1001146133	p.Asp401Gly	missense variant	-	NC_000017.11:g.2041581A>G	TOPMed
rs1294206597	p.Arg402His	missense variant	-	NC_000017.11:g.2041584G>A	gnomAD
rs1483346435	p.Arg403Cys	missense variant	-	NC_000017.11:g.2041586C>T	TOPMed
rs769916851	p.Pro404Ser	missense variant	-	NC_000017.11:g.2041589C>T	ExAC,TOPMed,gnomAD
rs769916851	p.Pro404Thr	missense variant	-	NC_000017.11:g.2041589C>A	ExAC,TOPMed,gnomAD
rs1260709072	p.His405Gln	missense variant	-	NC_000017.11:g.2041594C>G	gnomAD
rs763496424	p.Ala406Thr	missense variant	-	NC_000017.11:g.2041595G>A	ExAC,gnomAD
rs572975405	p.Arg409Gln	missense variant	-	NC_000017.11:g.2041605G>A	1000Genomes,ExAC,gnomAD
rs1002207231	p.Arg409Trp	missense variant	-	NC_000017.11:g.2041604C>T	TOPMed,gnomAD
rs760417466	p.Arg412Gln	missense variant	-	NC_000017.11:g.2041614G>A	ExAC,gnomAD
rs1327090813	p.Gly413Val	missense variant	-	NC_000017.11:g.2041617G>T	TOPMed
rs753535025	p.Gly413Arg	missense variant	-	NC_000017.11:g.2041616G>C	ExAC,gnomAD
rs753535025	p.Gly413Arg	missense variant	-	NC_000017.11:g.2041616G>A	ExAC,gnomAD
rs1007345223	p.Gln416Arg	missense variant	-	NC_000017.11:g.2041772A>G	TOPMed,gnomAD
rs1007345223	p.Gln416Pro	missense variant	-	NC_000017.11:g.2041772A>C	TOPMed,gnomAD
rs762593458	p.Gln416Ter	stop gained	-	NC_000017.11:g.2041771C>T	ExAC,TOPMed,gnomAD
rs765847438	p.Gly418Glu	missense variant	-	NC_000017.11:g.2041778G>A	ExAC,TOPMed,gnomAD
rs1042724914	p.Gly418Arg	missense variant	-	NC_000017.11:g.2041777G>A	TOPMed
rs1405358134	p.Ser419Phe	missense variant	-	NC_000017.11:g.2041781C>T	gnomAD
rs751549030	p.Ser419Ala	missense variant	-	NC_000017.11:g.2041780T>G	ExAC,TOPMed,gnomAD
rs751549030	p.Ser419Pro	missense variant	-	NC_000017.11:g.2041780T>C	ExAC,TOPMed,gnomAD
rs767331162	p.Ala420Val	missense variant	-	NC_000017.11:g.2041784C>T	ExAC,gnomAD
rs778124126	p.Pro422His	missense variant	-	NC_000017.11:g.2041790C>A	ExAC,gnomAD
rs368312190	p.Pro422Thr	missense variant	-	NC_000017.11:g.2041789C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749437432	p.Pro423Ala	missense variant	-	NC_000017.11:g.2041792C>G	ExAC,gnomAD
rs749437432	p.Pro423Ser	missense variant	-	NC_000017.11:g.2041792C>T	ExAC,gnomAD
rs779083589	p.Pro423Arg	missense variant	-	NC_000017.11:g.2041793C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser424Trp	missense variant	-	NC_000017.11:g.2041796C>G	NCI-TCGA
rs746403643	p.Ala425Thr	missense variant	-	NC_000017.11:g.2041798G>A	ExAC,TOPMed,gnomAD
rs746403643	p.Ala425Ser	missense variant	-	NC_000017.11:g.2041798G>T	ExAC,TOPMed,gnomAD
rs772638526	p.Ala425Gly	missense variant	-	NC_000017.11:g.2041799C>G	ExAC,gnomAD
rs1383468095	p.Val426Ala	missense variant	-	NC_000017.11:g.2041802T>C	gnomAD
rs1355657769	p.Val426Met	missense variant	-	NC_000017.11:g.2041801G>A	gnomAD
rs768900656	p.Ala427Val	missense variant	-	NC_000017.11:g.2041805C>T	ExAC,gnomAD
rs768567235	p.Cys428Arg	missense variant	-	NC_000017.11:g.2041807T>C	ExAC,gnomAD
rs993626715	p.Cys428Ser	missense variant	-	NC_000017.11:g.2041808G>C	gnomAD
rs762494381	p.Cys428Trp	missense variant	-	NC_000017.11:g.2041809C>G	ExAC,gnomAD
rs993626715	p.Cys428Tyr	missense variant	-	NC_000017.11:g.2041808G>A	gnomAD
rs768567235	p.Cys428Gly	missense variant	-	NC_000017.11:g.2041807T>G	ExAC,gnomAD
rs993626715	p.Cys428Phe	missense variant	-	NC_000017.11:g.2041808G>T	gnomAD
rs1367342828	p.Asp430Asn	missense variant	-	NC_000017.11:g.2041813G>A	gnomAD
NCI-TCGA novel	p.Asp430Tyr	missense variant	-	NC_000017.11:g.2041813G>T	NCI-TCGA
rs770451464	p.Cys431Arg	missense variant	-	NC_000017.11:g.2041816T>C	ExAC,TOPMed,gnomAD
rs773810529	p.Ser432Asn	missense variant	-	NC_000017.11:g.2041820G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser432Cys	missense variant	-	NC_000017.11:g.2041819A>T	NCI-TCGA
rs559509813	p.Arg434Thr	missense variant	-	NC_000017.11:g.2041826G>C	1000Genomes,ExAC,gnomAD
rs1353666549	p.Arg434Gly	missense variant	-	NC_000017.11:g.2041825A>G	gnomAD
rs1446762577	p.Glu436Gly	missense variant	-	NC_000017.11:g.2041832A>G	TOPMed,gnomAD
rs767386080	p.Glu436Asp	missense variant	-	NC_000017.11:g.2041833G>C	ExAC,TOPMed,gnomAD
rs1290196722	p.Glu436Lys	missense variant	-	NC_000017.11:g.2041831G>A	gnomAD
rs1290196722	p.Glu436Gln	missense variant	-	NC_000017.11:g.2041831G>C	gnomAD
rs760558224	p.Lys437Asn	missense variant	-	NC_000017.11:g.2041836G>C	ExAC,TOPMed,gnomAD
rs752571174	p.Lys437Gln	missense variant	-	NC_000017.11:g.2041834A>C	ExAC,gnomAD
rs752571174	p.Lys437Glu	missense variant	-	NC_000017.11:g.2041834A>G	ExAC,gnomAD
rs951247750	p.Val438Met	missense variant	-	NC_000017.11:g.2041837G>A	gnomAD
rs1262165274	p.Val438Ala	missense variant	-	NC_000017.11:g.2041838T>C	gnomAD
rs763773937	p.Ala439Thr	missense variant	-	NC_000017.11:g.2041840G>A	ExAC,gnomAD
rs1164022144	p.Pro440Ser	missense variant	-	NC_000017.11:g.2041843C>T	gnomAD
rs1407597528	p.Pro440Leu	missense variant	-	NC_000017.11:g.2041844C>T	gnomAD
rs1156598741	p.Leu441Gln	missense variant	-	NC_000017.11:g.2041847T>A	gnomAD
rs757510522	p.Ala442Thr	missense variant	-	NC_000017.11:g.2041849G>A	ExAC,gnomAD
rs1411959815	p.Ala442Val	missense variant	-	NC_000017.11:g.2041850C>T	TOPMed
rs779136511	p.Pro443Ser	missense variant	-	NC_000017.11:g.2041852C>T	ExAC,gnomAD
rs1449644332	p.Pro443Leu	missense variant	-	NC_000017.11:g.2041853C>T	TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0009402	Colorectal Carcinoma	disease	BEFREE
C0010278	Craniosynostosis	disease	HPO
C0010964	Dandy-Walker Syndrome	disease	CLINVAR
C0013336	Dwarfism	disease	BEFREE
C0018818	Ventricular Septal Defects	group	HPO
C0020534	Orbital separation excessive	phenotype	HPO
C0023449	Acute lymphocytic leukemia	disease	BEFREE
C0025362	Mental Retardation	disease	HPO
C0025990	Micrognathism	disease	HPO
C0029925	Ovarian Carcinoma	disease	BEFREE
C0235942	Abnormality of the skull	phenotype	HPO
C0239234	Low set ears	phenotype	HPO
C0262444	Abnormality of the dentition	phenotype	HPO
C0265219	Miller Dieker syndrome	disease	MGD
C0265534	Scaphycephaly	disease	HPO
C0265535	Trigonocephaly	disease	HPO
C0346629	Malignant neoplasm of large intestine	disease	BEFREE
C0349588	Short stature	phenotype	HPO
C0423110	Downward slant of palpebral fissure	phenotype	HPO
C0423903	Low intelligence	phenotype	HPO
C0424605	Developmental delay (disorder)	disease	BEFREE
C0432235	Cranioectodermal Dysplasia	disease	BEFREE
C0557874	Global developmental delay	disease	BEFREE;HPO
C0576962	Tooth problem	phenotype	HPO
C0596263	Carcinogenesis	phenotype	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0678230	Congenital Epicanthus	disease	HPO
C0796137	3C syndrome	disease	BEFREE
C0917816	Mental deficiency	disease	HPO
C0919267	ovarian neoplasm	disease	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE;UNIPROT
C1527249	Colorectal Cancer	disease	BEFREE
C1832446	Sparse eyebrow	phenotype	HPO
C1836542	Depressed nasal bridge	phenotype	HPO
C1837260	Prominent forehead	phenotype	HPO
C1837279	Hypoplastic toenails	phenotype	HPO
C1840379	Cerebellar vermis hypoplasia	phenotype	CLINVAR
C1843300	Sparse eyelashes	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C1867446	Bulging forehead	phenotype	HPO
C1961102	Precursor Cell Lymphoblastic Leukemia Lymphoma	disease	BEFREE
C1963137	Hydrocephalus Adverse Event	phenotype	CLINVAR
C3550546	Depressed nasal root/bridge	phenotype	HPO
C3714756	Intellectual Disability	group	BEFREE;HPO
C4020875	Mental and motor retardation	phenotype	CLINVAR;HPO
C4020876	Dull intelligence	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4280495	Concave bridge of nose	phenotype	HPO
C4280665	Wedge shaped head	disease	HPO
C4280666	Triangular head shape	disease	HPO
C4310801	DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR	disease	CLINVAR;CTD_human;ORPHANET;UNIPROT
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:0005515	protein binding	IPI
GO:0016740	transferase activity	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0008283	cell population proliferation	IEA
GO:0017183	peptidyl-diphthamide biosynthetic process from peptidyl-histidine	IEA
GO:0017183	peptidyl-diphthamide biosynthetic process from peptidyl-histidine	IBA
GO:0017183	peptidyl-diphthamide biosynthetic process from peptidyl-histidine	TAS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005654	nucleoplasm	IDA
GO:0005829	cytosol	TAS
GO:0030054	cell junction	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-163841	Gamma carboxylation, hypusine formation and arylsulfatase activation	TAS
R-HSA-392499	Metabolism of proteins	TAS
R-HSA-5358493	Synthesis of diphthamide-EEF2	TAS
R-HSA-597592	Post-translational protein modification	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of DPH1 mRNA	18648102
C496492	abrine	abrine results in increased expression of DPH1 mRNA	31054353
D000661	Amphetamine	Amphetamine results in decreased expression of DPH1 mRNA	30779732
C543008	bis(4-hydroxyphenyl)sulfone	[bis(4-hydroxyphenyl)sulfone co-treated with Tretinoin] results in decreased expression of DPH1 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the expression of DPH1 mRNA	25181051
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of DPH1 mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of DPH1 mRNA]	31150632
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of DPH1 mRNA]	27941970
D004041	Dietary Fats	Dietary Fats results in decreased expression of DPH1 mRNA	18042831
D004317	Doxorubicin	Doxorubicin results in decreased expression of DPH1 mRNA	29803840
D004791	Enzyme Inhibitors	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of DPH1 protein	23301498
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of DPH1 mRNA	23129252
D005485	Flutamide	Flutamide results in decreased expression of DPH1 mRNA	24793618
D005839	Gentamicins	Gentamicins results in increased expression of DPH1 mRNA	22061828
D005897	Glafenine	Glafenine results in increased expression of DPH1 mRNA	24136188
D007052	Ibuprofen	Ibuprofen results in increased expression of DPH1 mRNA	28201806
C025340	manganese chloride	manganese chloride results in increased expression of DPH1 mRNA	28801915
C000622638	MLN7243	MLN7243 results in increased sumoylation of DPH1 protein	31285264
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of DPH1 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of DPH1 mRNA	25554681
D000073878	Palm Oil	Palm Oil results in decreased expression of DPH1 mRNA	18042831
D052638	Particulate Matter	Particulate Matter results in increased expression of DPH1 mRNA	29703138
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of DPH1 mRNA]	31150632
C017947	sodium arsenite	sodium arsenite results in increased expression of DPH1 mRNA	29361514
D000077210	Sunitinib	Sunitinib results in increased expression of DPH1 mRNA	31533062
D013605	T-2 Toxin	T-2 Toxin results in increased expression of DPH1 mRNA	26141394
C061133	tamibarotene	tamibarotene results in increased expression of DPH1 mRNA	15498508
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of DPH1 mRNA	19465110
D013853	Thioacetamide	Thioacetamide results in increased expression of DPH1 mRNA	23411599
D014212	Tretinoin	Tretinoin results in increased expression of DPH1 mRNA	15498508
D014212	Tretinoin	[bis(4-hydroxyphenyl)sulfone co-treated with Tretinoin] results in decreased expression of DPH1 mRNA	30951980
D014635	Valproic Acid	Valproic Acid results in increased methylation of DPH1 gene	29154799
D014635	Valproic Acid	Valproic Acid affects the expression of DPH1 mRNA	17963808
C025643	vinclozolin	vinclozolin results in decreased expression of DPH1 mRNA	23034163
D024483	Vitamin K 3	Vitamin K 3 affects the expression of DPH1 mRNA	20044591

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0963	Cytoplasm
KW-0225	Disease mutation
KW-0242	Dwarfism
KW-0038	Ectodermal dysplasia
KW-1063	Hypotrichosis
KW-0991	Mental retardation
KW-0539	Nucleus
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0949	S-adenosyl-L-methionine
KW-0808	Transferase
KW-0043	Tumor suppressor

Interpro

InterPro ID	InterPro Term
IPR016435	DPH1/DPH2
IPR042263	DPH1/DPH2_1
IPR042264	DPH1/DPH2_2
IPR042265	DPH1/DPH2_3
IPR035435	DPH1/DPH2_euk_archaea

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF01866	Diphthamide_syn

Gene: DPH1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction