CleftGeneDB-Search

Gene: PDSS2

Basic information

Tag	Content
Uniprot ID	Q86YH6; Q33DR4; Q4G158; Q5VU38; Q5VU39; Q9NR58;
Entrez ID	57107
Genbank protein ID	BAE48217.1; AAH29491.1; AAH39906.1; AAF97788.1;
Genbank nucleotide ID	XM_011535963.2; NM_020381.3;
Ensembl protein ID	ENSP00000358027; ENSP00000358033;
Ensembl nucleotide ID	ENSG00000164494
Gene name	Decaprenyl-diphosphate synthase subunit 2
Gene symbol	PDSS2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10.
Sequence	MNFRQLLLHL PRYLGASGSP RRLWWSPSLD TISSVGSWRG RSSKSPAHWN QVVSEAEKIV 60 GYPTSFMSLR CLLSDELSNI AMQVRKLVGT QHPLLTTARG LVHDSWNSLQ LRGLVVLLIS 120 KAAGPSSVNT SCQNYDMVSG IYSCQRSLAE ITELIHIALL VHRGIVNLNE LQSSDGPLKD 180 MQFGNKIAIL SGDFLLANAC NGLALLQNTK VVELLASALM DLVQGVYHEN STSKESYITD 240 DIGISTWKEQ TFLSHGALLA KSCQAAMELA KHDAEVQNMA FQYGKHMAMS HKINSDVQPF 300 IKEKTSDSMT FNLNSAPVVL HQEFLGRDLW IKQIGEAQEK GRLDYAKLRE RIKAGKGVTS 360 AIDLCRYHGN KALEALESFP PSEARSALEN IVFAVTRFS 399

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	PDSS2	521115	A6QR05		Bos taurus	Prediction	More>>
1:1 ortholog	PDSS2	481950	A0A5F4DM97		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	PDSS2	102191138	A0A452EPD3		Capra hircus	Prediction	More>>
1:1 ortholog	PDSS2	100072062	A0A3Q2LJH9		Equus caballus	Prediction	More>>
1:1 ortholog	PDSS2	57107	Q86YH6		Homo sapiens	Prediction	More>>
1:1 ortholog	Pdss2	71365	Q33DR3	CPO	Mus musculus	Publication	More>>
1:1 ortholog	PDSS2	462912	H2QTH8		Pan troglodytes	Prediction	More>>
1:1 ortholog	PDSS2	100312977	D0G786		Sus scrofa	Prediction	More>>
1:1 ortholog	PDSS2		A0A5F9DMW0		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Pdss2	365592	Q5U2R1		Rattus norvegicus	Prediction	More>>
1:1 ortholog	pdss2		B7ZD86		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs141282833	p.Asn2His	missense variant	-	NC_000006.12:g.107459282T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000328691	p.Phe3Leu	missense variant	Coenzyme Q10 deficiency, primary	NC_000006.12:g.107459279A>G	ClinVar
rs3734675	p.Phe3Leu	missense variant	-	NC_000006.12:g.107459279A>G	UniProt,dbSNP
VAR_049645	p.Phe3Leu	missense variant	-	NC_000006.12:g.107459279A>G	UniProt
rs3734675	p.Phe3Leu	missense variant	-	NC_000006.12:g.107459279A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs3734676	p.Arg4Pro	missense variant	-	NC_000006.12:g.107459275C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000677023	p.Arg4Pro	missense variant	-	NC_000006.12:g.107459275C>G	ClinVar
RCV000127444	p.Arg4Pro	missense variant	-	NC_000006.12:g.107459275C>G	ClinVar
rs749571760	p.Gln5Ter	stop gained	-	NC_000006.12:g.107459273G>A	ExAC
rs749571760	p.Gln5Ter	stop gained	-	NC_000006.12:g.107459273G>A	NCI-TCGA
rs1161386156	p.Leu6Gln	missense variant	-	NC_000006.12:g.107459269A>T	gnomAD
rs1457387841	p.Leu7Val	missense variant	-	NC_000006.12:g.107459267G>C	gnomAD
rs377597542	p.Leu8Trp	missense variant	-	NC_000006.12:g.107459263A>C	ESP,TOPMed
rs377597542	p.Leu8Ser	missense variant	-	NC_000006.12:g.107459263A>G	ESP,TOPMed
rs1419713675	p.His9Arg	missense variant	-	NC_000006.12:g.107459260T>C	TOPMed,gnomAD
rs1368951996	p.His9Asp	missense variant	-	NC_000006.12:g.107459261G>C	gnomAD
rs769947770	p.Arg12Gly	missense variant	-	NC_000006.12:g.107459252G>C	NCI-TCGA
rs769947770	p.Arg12Gly	missense variant	-	NC_000006.12:g.107459252G>C	ExAC,gnomAD
rs757780479	p.Arg12His	missense variant	-	NC_000006.12:g.107459251C>T	TOPMed
COSM4846594	p.Arg12Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107459251C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr13Ser	missense variant	-	NC_000006.12:g.107459248T>G	NCI-TCGA
rs1261763009	p.Tyr13Cys	missense variant	-	NC_000006.12:g.107459248T>C	gnomAD
rs748185845	p.Leu14Phe	missense variant	-	NC_000006.12:g.107459246G>A	ExAC,gnomAD
rs373021095	p.Ser17Leu	missense variant	-	NC_000006.12:g.107459236G>A	ESP,ExAC,TOPMed,gnomAD
rs1222179212	p.Gly18Asp	missense variant	-	NC_000006.12:g.107459233C>T	TOPMed,gnomAD
rs1267747373	p.Ser19Phe	missense variant	-	NC_000006.12:g.107459230G>A	NCI-TCGA Cosmic
rs1267747373	p.Ser19Phe	missense variant	-	NC_000006.12:g.107459230G>A	gnomAD
rs758340947	p.Pro20Leu	missense variant	-	NC_000006.12:g.107459227G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro20ArgPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.107459227G>-	NCI-TCGA
rs778829222	p.Arg21Cys	missense variant	-	NC_000006.12:g.107459225G>A	ExAC,gnomAD
rs756982773	p.Trp25Leu	missense variant	-	NC_000006.12:g.107459212C>A	ExAC,gnomAD
rs1356132916	p.Ser26Ala	missense variant	-	NC_000006.12:g.107459210A>C	TOPMed
rs556257343	p.Ser26Phe	missense variant	-	NC_000006.12:g.107459209G>A	1000Genomes,ExAC,gnomAD
rs755671694	p.Pro27Ser	missense variant	-	NC_000006.12:g.107459207G>A	ExAC,TOPMed,gnomAD
rs1391435665	p.Pro27Leu	missense variant	-	NC_000006.12:g.107459206G>A	gnomAD
rs1391435665	p.Pro27Arg	missense variant	-	NC_000006.12:g.107459206G>C	gnomAD
RCV000197738	p.Pro27Ser	missense variant	-	NC_000006.12:g.107459207G>A	ClinVar
rs768018344	p.Leu29Phe	missense variant	-	NC_000006.12:g.107459201G>A	ExAC,gnomAD
rs1170746623	p.Ile32Leu	missense variant	-	NC_000006.12:g.107459192T>G	gnomAD
NCI-TCGA novel	p.Ser33Tyr	missense variant	-	NC_000006.12:g.107459188G>T	NCI-TCGA
NCI-TCGA novel	p.Ser34Leu	missense variant	-	NC_000006.12:g.107459185G>A	NCI-TCGA
COSM3857287	p.Val35Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107459182A>G	NCI-TCGA Cosmic
rs1251256664	p.Trp38Gly	missense variant	-	NC_000006.12:g.107459174A>C	TOPMed
rs1438668614	p.Arg41Trp	missense variant	-	NC_000006.12:g.107459165G>A	gnomAD
rs763187675	p.Ser42Phe	missense variant	-	NC_000006.12:g.107459161G>A	ExAC,TOPMed,gnomAD
rs1485685749	p.His48Tyr	missense variant	-	NC_000006.12:g.107459144G>A	TOPMed
rs1321758345	p.Asn50Tyr	missense variant	-	NC_000006.12:g.107459138T>A	gnomAD
rs1282869756	p.Val52Ile	missense variant	-	NC_000006.12:g.107459132C>T	gnomAD
rs1331477498	p.Val53Glu	missense variant	-	NC_000006.12:g.107459128A>T	gnomAD
NCI-TCGA novel	p.Glu55Lys	missense variant	-	NC_000006.12:g.107459123C>T	NCI-TCGA
rs1266510844	p.Glu55Asp	missense variant	-	NC_000006.12:g.107459121C>G	gnomAD
rs1389652025	p.Glu55Gln	missense variant	-	NC_000006.12:g.107459123C>G	TOPMed,gnomAD
rs1399417724	p.Ala56Thr	missense variant	-	NC_000006.12:g.107459120C>T	gnomAD
NCI-TCGA novel	p.Glu57Asp	missense variant	-	NC_000006.12:g.107459115C>A	NCI-TCGA
rs1170961854	p.Glu57Gly	missense variant	-	NC_000006.12:g.107459116T>C	TOPMed
rs1331517785	p.Ile59Val	missense variant	-	NC_000006.12:g.107459111T>C	gnomAD
rs776915681	p.Val60Leu	missense variant	-	NC_000006.12:g.107459108C>G	ExAC,gnomAD
rs1171640220	p.Pro63Leu	missense variant	-	NC_000006.12:g.107459098G>A	gnomAD
rs1427781794	p.Ser65Cys	missense variant	-	NC_000006.12:g.107459092G>C	TOPMed
COSM3857285	p.Ser65Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107459093A>G	NCI-TCGA Cosmic
rs140933061	p.Met67Leu	missense variant	-	NC_000006.12:g.107459087T>G	ESP,TOPMed,gnomAD
rs1379758287	p.Met67Arg	missense variant	-	NC_000006.12:g.107459086A>C	gnomAD
rs768846122	p.Ser68Cys	missense variant	-	NC_000006.12:g.107459084T>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg70Gly	missense variant	-	NC_000006.12:g.107459078G>C	NCI-TCGA
COSM3776982	p.Arg70Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107459078G>T	NCI-TCGA Cosmic
rs745852734	p.Cys71Tyr	missense variant	-	NC_000006.12:g.107459074C>T	ExAC,gnomAD
rs770795875	p.Ser74Arg	missense variant	-	NC_000006.12:g.107459066T>G	ExAC,gnomAD
rs748988428	p.Ser74Arg	missense variant	-	NC_000006.12:g.107459064G>T	ExAC,gnomAD
rs369079759	p.Asp75Asn	missense variant	-	NC_000006.12:g.107459063C>T	ESP,ExAC,TOPMed,gnomAD
rs1347368741	p.Ser78Ile	missense variant	-	NC_000006.12:g.107459053C>A	gnomAD
rs1257581809	p.Ser78Arg	missense variant	-	NC_000006.12:g.107459052G>T	gnomAD
rs1465571083	p.Ile80Val	missense variant	-	NC_000006.12:g.107459048T>C	TOPMed
rs147287460	p.Ala81Thr	missense variant	-	NC_000006.12:g.107459045C>T	ESP,ExAC,TOPMed,gnomAD
rs1056936705	p.Ala81Val	missense variant	-	NC_000006.12:g.107459044G>A	TOPMed
rs147287460	p.Ala81Ser	missense variant	-	NC_000006.12:g.107459045C>A	ESP,ExAC,TOPMed,gnomAD
rs1309897408	p.Met82Leu	missense variant	-	NC_000006.12:g.107459042T>A	TOPMed,gnomAD
rs1309897408	p.Met82Val	missense variant	-	NC_000006.12:g.107459042T>C	TOPMed,gnomAD
rs1448811259	p.Gln83His	missense variant	-	NC_000006.12:g.107459037C>G	gnomAD
rs1379975466	p.Val84Ala	missense variant	-	NC_000006.12:g.107459035A>G	TOPMed,gnomAD
rs545921648	p.Val88Leu	missense variant	-	NC_000006.12:g.107459024C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs545921648	p.Val88Leu	missense variant	-	NC_000006.12:g.107459024C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1281622071	p.Gly89Val	missense variant	-	NC_000006.12:g.107459020C>A	TOPMed
rs143549737	p.His92Pro	missense variant	-	NC_000006.12:g.107459011T>G	ExAC,TOPMed,gnomAD
RCV000199611	p.His92Pro	missense variant	-	NC_000006.12:g.107459011T>G	ClinVar
rs143121266	p.Pro93Ser	missense variant	-	NC_000006.12:g.107459009G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768899441	p.Pro93Arg	missense variant	-	NC_000006.12:g.107459008G>C	ExAC,gnomAD
rs143121266	p.Pro93Thr	missense variant	-	NC_000006.12:g.107459009G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143121266	p.Pro93Ala	missense variant	-	NC_000006.12:g.107459009G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1188295669	p.Leu94Val	missense variant	-	NC_000006.12:g.107459006G>C	gnomAD
rs201366565	p.Leu94Pro	missense variant	-	NC_000006.12:g.107459005A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs770715952	p.Thr96Ile	missense variant	-	NC_000006.12:g.107458999G>A	ExAC,gnomAD
rs749113501	p.Ala98Val	missense variant	-	NC_000006.12:g.107458993G>A	ExAC,gnomAD
rs777497469	p.Arg99Lys	missense variant	-	NC_000006.12:g.107458990C>T	ExAC,gnomAD
rs1402453222	p.Gly100Trp	missense variant	-	NC_000006.12:g.107334331C>A	gnomAD
rs1351097046	p.Gly100Glu	missense variant	-	NC_000006.12:g.107334330C>T	TOPMed
rs762858267	p.His103Tyr	missense variant	-	NC_000006.12:g.107334322G>A	ExAC,TOPMed,gnomAD
rs773167802	p.His103Pro	missense variant	-	NC_000006.12:g.107334321T>G	ExAC,TOPMed,gnomAD
rs1464295287	p.Ser105Ile	missense variant	-	NC_000006.12:g.107334315C>A	gnomAD
rs769607747	p.Ser108Gly	missense variant	-	NC_000006.12:g.107334307T>C	ExAC,gnomAD
rs144461244	p.Ser108Asn	missense variant	-	NC_000006.12:g.107334306C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs996847352	p.Leu109Phe	missense variant	-	NC_000006.12:g.107334304G>A	TOPMed
rs776279846	p.Gln110Arg	missense variant	-	NC_000006.12:g.107334300T>C	ExAC,gnomAD
rs746665680	p.Gly113Asp	missense variant	-	NC_000006.12:g.107334291C>T	ExAC,TOPMed,gnomAD
rs542264096	p.Gly113Ser	missense variant	-	NC_000006.12:g.107334292C>T	1000Genomes,ExAC,gnomAD
rs1364929327	p.Leu114Phe	missense variant	-	NC_000006.12:g.107334287C>G	TOPMed
COSM483236	p.Leu117Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107334280G>A	NCI-TCGA Cosmic
rs757900585	p.Ile119Val	missense variant	-	NC_000006.12:g.107334274T>C	ExAC,gnomAD
rs779525869	p.Ser120Ala	missense variant	-	NC_000006.12:g.107334271A>C	ExAC,TOPMed,gnomAD
rs1197453075	p.Ser120Phe	missense variant	-	NC_000006.12:g.107334270G>A	gnomAD
COSM1071828	p.Ala122Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107334265C>A	NCI-TCGA Cosmic
RCV000196690	p.Ala123Val	missense variant	-	NC_000006.12:g.107334261G>A	ClinVar
rs863224164	p.Ala123Val	missense variant	-	NC_000006.12:g.107334261G>A	-
rs200386735	p.Ser126Gly	missense variant	-	NC_000006.12:g.107334253T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1027214591	p.Ser127Asn	missense variant	-	NC_000006.12:g.107334249C>T	TOPMed
rs1279712257	p.Ser127Gly	missense variant	-	NC_000006.12:g.107334250T>C	TOPMed,gnomAD
RCV000395354	p.Val128Met	missense variant	Coenzyme Q10 deficiency, primary	NC_000006.12:g.107334247C>T	ClinVar
rs201645466	p.Val128Met	missense variant	-	NC_000006.12:g.107334247C>T	ExAC,TOPMed,gnomAD
rs887340468	p.Asn129Thr	missense variant	-	NC_000006.12:g.107334243T>G	TOPMed,gnomAD
rs149239689	p.Thr130Ser	missense variant	-	NC_000006.12:g.107334240G>C	ESP,ExAC,TOPMed,gnomAD
rs1309036027	p.Ser131Leu	missense variant	-	NC_000006.12:g.107334237G>A	TOPMed
rs1466198335	p.Cys132Tyr	missense variant	-	NC_000006.12:g.107334234C>T	gnomAD
rs1432782767	p.Asn134Ser	missense variant	-	NC_000006.12:g.107334228T>C	gnomAD
rs1424230904	p.Tyr135Cys	missense variant	-	NC_000006.12:g.107334225T>C	gnomAD
NCI-TCGA novel	p.Asp136Asn	missense variant	-	NC_000006.12:g.107334223C>T	NCI-TCGA
rs762326948	p.Met137Val	missense variant	-	NC_000006.12:g.107334220T>C	ExAC,gnomAD
rs1036022746	p.Met137Thr	missense variant	-	NC_000006.12:g.107334219A>G	TOPMed,gnomAD
rs762326948	p.Met137Leu	missense variant	-	NC_000006.12:g.107334220T>A	ExAC,gnomAD
rs1443139035	p.Met137Ile	missense variant	-	NC_000006.12:g.107334218C>A	TOPMed,gnomAD
rs773153983	p.Val138Ile	missense variant	-	NC_000006.12:g.107334217C>T	ExAC,gnomAD
RCV000356556	p.Ser139Gly	missense variant	Coenzyme Q10 deficiency, primary	NC_000006.12:g.107334214T>C	ClinVar
rs886060929	p.Ser139Gly	missense variant	-	NC_000006.12:g.107334214T>C	TOPMed
COSM6172236	p.Gly140Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107334211C>G	NCI-TCGA Cosmic
rs1259381433	p.Ile141Ser	missense variant	-	NC_000006.12:g.107334207A>C	gnomAD
rs1207608920	p.Cys144Arg	missense variant	-	NC_000006.12:g.107334199A>G	gnomAD
rs1285708549	p.Gln145Glu	missense variant	-	NC_000006.12:g.107274226G>C	gnomAD
rs1315716434	p.Gln145Arg	missense variant	-	NC_000006.12:g.107274225T>C	TOPMed
rs1241536852	p.Ser147Cys	missense variant	-	NC_000006.12:g.107274220T>A	TOPMed,gnomAD
rs1263277213	p.Ala149Ser	missense variant	-	NC_000006.12:g.107274214C>A	TOPMed
rs1322174138	p.Ala149Gly	missense variant	-	NC_000006.12:g.107274213G>C	TOPMed
COSM3828725	p.Ala149Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107274213G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr152Ala	missense variant	-	NC_000006.12:g.107274205T>C	NCI-TCGA
rs138673517	p.Thr152Met	missense variant	-	NC_000006.12:g.107274204G>A	ESP,ExAC,TOPMed,gnomAD
rs150586626	p.Ile155Thr	missense variant	-	NC_000006.12:g.107274195A>G	ESP
rs1304811981	p.Ile157Ser	missense variant	-	NC_000006.12:g.107274189A>C	gnomAD
rs763833615	p.Ala158Val	missense variant	-	NC_000006.12:g.107274186G>A	ExAC
rs763833615	p.Ala158Asp	missense variant	-	NC_000006.12:g.107274186G>T	ExAC
rs1398339031	p.Leu159Val	missense variant	-	NC_000006.12:g.107274184G>C	gnomAD
rs1358413173	p.His162Tyr	missense variant	-	NC_000006.12:g.107274175G>A	gnomAD
rs1358413173	p.His162Tyr	missense variant	-	NC_000006.12:g.107274175G>A	NCI-TCGA Cosmic
rs1157801198	p.His162Pro	missense variant	-	NC_000006.12:g.107274174T>G	gnomAD
rs142617068	p.Arg163His	missense variant	-	NC_000006.12:g.107274171C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg163LeuPheSerTerUnk	frameshift	-	NC_000006.12:g.107274171_107274172insTATCCAGA	NCI-TCGA
rs760480466	p.Arg163Cys	missense variant	-	NC_000006.12:g.107274172G>A	ExAC,gnomAD
rs760480466	p.Arg163Cys	missense variant	-	NC_000006.12:g.107274172G>A	NCI-TCGA,NCI-TCGA Cosmic
RCV000723054	p.Ile165Thr	missense variant	-	NC_000006.12:g.107274165A>G	ClinVar
rs1162160483	p.Val166Ile	missense variant	-	NC_000006.12:g.107274163C>T	gnomAD
rs201218141	p.Asn167Ser	missense variant	-	NC_000006.12:g.107274159T>C	1000Genomes,ExAC,gnomAD
rs759122148	p.Asn169Ser	missense variant	-	NC_000006.12:g.107274153T>C	ExAC,gnomAD
rs1183270278	p.Gln172Ter	stop gained	-	NC_000006.12:g.107274145G>A	gnomAD
NCI-TCGA novel	p.Asp175Asn	missense variant	-	NC_000006.12:g.107274136C>T	NCI-TCGA
rs1217767868	p.Asp175His	missense variant	-	NC_000006.12:g.107274136C>G	TOPMed,gnomAD
rs370960044	p.Gly176Arg	missense variant	-	NC_000006.12:g.107274133C>G	ESP,ExAC,gnomAD
rs549039940	p.Leu178Val	missense variant	-	NC_000006.12:g.107274127G>C	1000Genomes,gnomAD
rs778396444	p.Leu178Pro	missense variant	-	NC_000006.12:g.107274126A>G	ExAC,TOPMed,gnomAD
RCV000198557	p.Lys179Thr	missense variant	-	NC_000006.12:g.107274123T>G	ClinVar
rs863224165	p.Lys179Thr	missense variant	-	NC_000006.12:g.107274123T>G	-
NCI-TCGA novel	p.Asp180Gly	missense variant	-	NC_000006.12:g.107274120T>C	NCI-TCGA
rs528977401	p.Asp180His	missense variant	-	NC_000006.12:g.107274121C>G	1000Genomes,ExAC,gnomAD
rs138048025	p.Gln182Arg	missense variant	-	NC_000006.12:g.107274114T>C	ESP,ExAC,gnomAD
rs1177375665	p.Gln182Ter	stop gained	-	NC_000006.12:g.107274115G>A	TOPMed
rs766902097	p.Ile187Ser	missense variant	-	NC_000006.12:g.107274099A>C	TOPMed
rs201682968	p.Ile189Val	missense variant	-	NC_000006.12:g.107274094T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs201682968	p.Ile189Leu	missense variant	-	NC_000006.12:g.107274094T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1386800330	p.Ser191Asn	missense variant	-	NC_000006.12:g.107274087C>T	gnomAD
COSM4861103	p.Gly192Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107274084C>T	NCI-TCGA Cosmic
rs1430600315	p.Asp193Gly	missense variant	-	NC_000006.12:g.107274081T>C	TOPMed
rs1287513097	p.Phe194Ile	missense variant	-	NC_000006.12:g.107274079A>T	TOPMed
rs758439210	p.Ala199Val	missense variant	-	NC_000006.12:g.107274063G>A	ExAC,gnomAD
COSM1071826	p.Ala199Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107274064C>T	NCI-TCGA Cosmic
rs1476658817	p.Asn201Ser	missense variant	-	NC_000006.12:g.107274057T>C	TOPMed,gnomAD
rs79101673	p.Gln207Arg	missense variant	-	NC_000006.12:g.107274039T>C	1000Genomes,gnomAD
rs753806698	p.Asn208Asp	missense variant	-	NC_000006.12:g.107274037T>C	ExAC,gnomAD
rs764045206	p.Asn208Ile	missense variant	-	NC_000006.12:g.107274036T>A	ExAC,gnomAD
rs1055698303	p.Thr209Ala	missense variant	-	NC_000006.12:g.107274034T>C	TOPMed,gnomAD
rs1486225731	p.Val211Ala	missense variant	-	NC_000006.12:g.107245618A>G	TOPMed
NCI-TCGA novel	p.Val212SerPheSerTerUnk	frameshift	-	NC_000006.12:g.107245616_107245617insCTGACAGA	NCI-TCGA
rs762431733	p.Val212Ala	missense variant	-	NC_000006.12:g.107245615A>G	ExAC,TOPMed,gnomAD
rs776970659	p.Glu213Gly	missense variant	-	NC_000006.12:g.107245612T>C	ExAC,gnomAD
rs769038551	p.Ala216Pro	missense variant	-	NC_000006.12:g.107245604C>G	ExAC
rs747327705	p.Asp221Asn	missense variant	-	NC_000006.12:g.107245589C>T	ExAC,TOPMed,gnomAD
RCV000765862	p.Val223Ile	missense variant	Coenzyme Q10 deficiency, primary, 3 (COQ10D3)	NC_000006.12:g.107245583C>T	ClinVar
rs35555197	p.Val223Ile	missense variant	-	NC_000006.12:g.107245583C>T	ESP,ExAC,TOPMed,gnomAD
rs1331696389	p.Val223Gly	missense variant	-	NC_000006.12:g.107245582A>C	gnomAD
RCV000311116	p.Val223Ile	missense variant	Coenzyme Q10 deficiency, primary	NC_000006.12:g.107245583C>T	ClinVar
RCV000677022	p.Val223Ile	missense variant	-	NC_000006.12:g.107245583C>T	ClinVar
COSM75899	p.Val223Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107245583C>G	NCI-TCGA Cosmic
rs746073753	p.Val226Ile	missense variant	-	NC_000006.12:g.107245574C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr227SerPheSerTerUnk	frameshift	-	NC_000006.12:g.107245569_107245570AT>-	NCI-TCGA
NCI-TCGA novel	p.Glu229Lys	missense variant	-	NC_000006.12:g.107245565C>T	NCI-TCGA
NCI-TCGA novel	p.Asn230LysPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.107245560_107245561insT	NCI-TCGA
COSM1071825	p.Ser231Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107245558G>T	NCI-TCGA Cosmic
RCV000200081	p.Lys234Glu	missense variant	-	NC_000006.12:g.107245550T>C	ClinVar
rs372737420	p.Lys234Glu	missense variant	-	NC_000006.12:g.107245550T>C	ESP,TOPMed,gnomAD
rs1469424820	p.Ser236Arg	missense variant	-	NC_000006.12:g.107212279T>G	gnomAD
rs778379122	p.Ser236Thr	missense variant	-	NC_000006.12:g.107212278C>G	ExAC,gnomAD
rs1288765674	p.Tyr237His	missense variant	-	NC_000006.12:g.107212276A>G	TOPMed
rs753221338	p.Ile238Thr	missense variant	-	NC_000006.12:g.107212272A>G	ExAC,TOPMed,gnomAD
rs886060924	p.Thr239Pro	missense variant	-	NC_000006.12:g.107212270T>G	-
RCV000277000	p.Thr239Pro	missense variant	Coenzyme Q10 deficiency, primary	NC_000006.12:g.107212270T>G	ClinVar
NCI-TCGA novel	p.Asp240His	missense variant	-	NC_000006.12:g.107212267C>G	NCI-TCGA
rs1226575242	p.Asp240Asn	missense variant	-	NC_000006.12:g.107212267C>T	TOPMed
rs763590850	p.Asp241Tyr	missense variant	-	NC_000006.12:g.107212264C>A	ExAC,gnomAD
rs761228243	p.Ile242Thr	missense variant	-	NC_000006.12:g.107212260A>G	ExAC,gnomAD
rs1304811391	p.Ile242Phe	missense variant	-	NC_000006.12:g.107212261T>A	gnomAD
rs1330739230	p.Gly243Arg	missense variant	-	NC_000006.12:g.107212258C>T	gnomAD
rs371061123	p.Ser245Leu	missense variant	-	NC_000006.12:g.107212251G>A	ESP,ExAC,TOPMed,gnomAD
rs148107195	p.Thr246Ile	missense variant	-	NC_000006.12:g.107212248G>A	ESP,ExAC,gnomAD
rs1412561354	p.Trp247Ser	missense variant	-	NC_000006.12:g.107212245C>G	gnomAD
rs1424125328	p.Glu249Gly	missense variant	-	NC_000006.12:g.107212239T>C	gnomAD
rs1220224606	p.Gln250Lys	missense variant	-	NC_000006.12:g.107212237G>T	TOPMed
rs1174221335	p.Thr251Pro	missense variant	-	NC_000006.12:g.107212234T>G	gnomAD
rs1174221335	p.Thr251Ala	missense variant	-	NC_000006.12:g.107212234T>C	gnomAD
rs1455513843	p.His255Arg	missense variant	-	NC_000006.12:g.107212221T>C	gnomAD
rs770989579	p.Gly256Asp	missense variant	-	NC_000006.12:g.107212218C>T	ExAC,gnomAD
rs763229733	p.Lys261Thr	missense variant	-	NC_000006.12:g.107212203T>G	ExAC,gnomAD
rs1375704626	p.Gln264His	missense variant	-	NC_000006.12:g.107212193T>G	TOPMed
rs1207539530	p.Met267Thr	missense variant	-	NC_000006.12:g.107212185A>G	gnomAD
rs377517207	p.Met267Val	missense variant	-	NC_000006.12:g.107212186T>C	ESP,ExAC,gnomAD
rs143680679	p.Ala270Ser	missense variant	-	NC_000006.12:g.107212177C>A	ESP,ExAC,gnomAD
rs143680679	p.Ala270Thr	missense variant	-	NC_000006.12:g.107212177C>T	ESP,ExAC,gnomAD
COSM6104972	p.His272Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107212170T>G	NCI-TCGA Cosmic
rs780099323	p.Ala274Ser	missense variant	-	NC_000006.12:g.107212165C>A	ExAC,gnomAD
rs771922053	p.Glu275Val	missense variant	-	NC_000006.12:g.107212161T>A	ExAC,gnomAD
rs745590054	p.Gln277Arg	missense variant	-	NC_000006.12:g.107212155T>C	ExAC,gnomAD
rs1308708966	p.Gln277His	missense variant	-	NC_000006.12:g.107212154C>G	gnomAD
rs778633324	p.Asn278His	missense variant	-	NC_000006.12:g.107212153T>G	ExAC,gnomAD
rs756929322	p.Asn278Ser	missense variant	-	NC_000006.12:g.107212152T>C	ExAC,gnomAD
rs753476156	p.Met279Ile	missense variant	-	NC_000006.12:g.107212148C>T	ExAC,gnomAD
rs1301323756	p.Met279Thr	missense variant	-	NC_000006.12:g.107212149A>G	gnomAD
rs1183329109	p.Ala280Thr	missense variant	-	NC_000006.12:g.107212147C>T	TOPMed
rs777315112	p.Tyr283Ter	stop gained	-	NC_000006.12:g.107212136A>T	ExAC,gnomAD
rs554066721	p.Lys285Arg	missense variant	-	NC_000006.12:g.107212131T>C	ExAC,gnomAD
COSM1071823	p.His286Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107212129G>A	NCI-TCGA Cosmic
rs372795943	p.Met287Thr	missense variant	-	NC_000006.12:g.107212125A>G	ESP,ExAC,TOPMed,gnomAD
rs753238455	p.Met287Leu	missense variant	-	NC_000006.12:g.107212126T>G	ExAC,gnomAD
rs759961328	p.Ala288Thr	missense variant	-	NC_000006.12:g.107212123C>T	ExAC,TOPMed,gnomAD
rs759961328	p.Ala288Ser	missense variant	-	NC_000006.12:g.107212123C>A	ExAC,TOPMed,gnomAD
COSM1439548	p.Ala288Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107212122G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Met289Ile	missense variant	-	NC_000006.12:g.107212118C>G	NCI-TCGA
rs751931690	p.Met289Val	missense variant	-	NC_000006.12:g.107212120T>C	ExAC,TOPMed,gnomAD
rs766749567	p.His291Arg	missense variant	-	NC_000006.12:g.107212113T>C	ExAC,gnomAD
rs863224167	p.Lys292Glu	missense variant	-	NC_000006.12:g.107212111T>C	-
RCV000196261	p.Lys292Glu	missense variant	-	NC_000006.12:g.107212111T>C	ClinVar
rs747602378	p.Asp296Glu	missense variant	-	NC_000006.12:g.107210559A>T	ExAC,TOPMed
rs780746304	p.Val297Ala	missense variant	-	NC_000006.12:g.107210557A>G	ExAC,gnomAD
rs1262872037	p.Pro299Thr	missense variant	-	NC_000006.12:g.107210552G>T	TOPMed,gnomAD
rs1187639482	p.Pro299Arg	missense variant	-	NC_000006.12:g.107210551G>C	gnomAD
rs755494016	p.Phe300Leu	missense variant	-	NC_000006.12:g.107210549A>G	ExAC,gnomAD
rs766689872	p.Ile301Thr	missense variant	-	NC_000006.12:g.107210545A>G	ExAC,gnomAD
rs752079360	p.Ile301Val	missense variant	-	NC_000006.12:g.107210546T>C	ExAC,TOPMed,gnomAD
rs1335485456	p.Lys302Ile	missense variant	-	NC_000006.12:g.107210542T>A	gnomAD
rs1335485456	p.Lys302Ile	missense variant	-	NC_000006.12:g.107210542T>A	NCI-TCGA
rs545787240	p.Glu303Gly	missense variant	-	NC_000006.12:g.107210539T>C	1000Genomes,ExAC,gnomAD
COSM4898677	p.Glu303Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107210540C>T	NCI-TCGA Cosmic
rs965598437	p.Lys304Asn	missense variant	-	NC_000006.12:g.107210535C>A	gnomAD
rs1216981711	p.Lys304Arg	missense variant	-	NC_000006.12:g.107210536T>C	gnomAD
rs750695905	p.Thr305Ser	missense variant	-	NC_000006.12:g.107210533G>C	ExAC,gnomAD
rs765495507	p.Ser306Arg	missense variant	-	NC_000006.12:g.107210531T>G	ExAC,TOPMed,gnomAD
rs765495507	p.Ser306Gly	missense variant	-	NC_000006.12:g.107210531T>C	ExAC,TOPMed,gnomAD
rs1213284729	p.Asp307Asn	missense variant	-	NC_000006.12:g.107210528C>T	TOPMed
rs761987770	p.Ser308Pro	missense variant	-	NC_000006.12:g.107210525A>G	ExAC,gnomAD
rs1490595812	p.Met309Thr	missense variant	-	NC_000006.12:g.107210521A>G	TOPMed
rs1266854741	p.Met309Val	missense variant	-	NC_000006.12:g.107210522T>C	TOPMed
rs1291348169	p.Met309Ile	missense variant	-	NC_000006.12:g.107210520C>A	TOPMed,gnomAD
COSM6104973	p.Met309Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107210520C>G	NCI-TCGA Cosmic
rs776919608	p.Phe311Ser	missense variant	-	NC_000006.12:g.107210515A>G	ExAC,gnomAD
rs148925842	p.Asn314Thr	missense variant	-	NC_000006.12:g.107210506T>G	ESP,ExAC,gnomAD
rs768353921	p.Val318Ile	missense variant	-	NC_000006.12:g.107210495C>T	gnomAD
rs1267319597	p.Leu320Ser	missense variant	-	NC_000006.12:g.107210488A>G	TOPMed
RCV000001259	p.Gln322Ter	nonsense	Coenzyme Q10 deficiency, primary, 3 (COQ10D3)	NC_000006.12:g.107210483G>A	ClinVar
rs118203955	p.Gln322Glu	missense variant	Coenzyme q10 deficiency, primary, 3 (coq10d3)	NC_000006.12:g.107210483G>C	ExAC,TOPMed,gnomAD
rs118203955	p.Gln322Ter	stop gained	Coenzyme q10 deficiency, primary, 3 (coq10d3)	NC_000006.12:g.107210483G>A	ExAC,TOPMed,gnomAD
rs267600756	p.Glu323Lys	missense variant	-	NC_000006.12:g.107210480C>T	gnomAD
rs749037342	p.Leu325Pro	missense variant	-	NC_000006.12:g.107210473A>G	ExAC,gnomAD
COSM1071822	p.Leu325Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107210474G>T	NCI-TCGA Cosmic
rs1417419285	p.Asp328Tyr	missense variant	-	NC_000006.12:g.107210465C>A	TOPMed
rs1417419285	p.Asp328His	missense variant	-	NC_000006.12:g.107210465C>G	TOPMed
rs769373709	p.Leu329Phe	missense variant	-	NC_000006.12:g.107210460C>A	ExAC,gnomAD
rs17853951	p.Gly335Ter	stop gained	-	NC_000006.12:g.107210444C>A	ESP,ExAC,TOPMed,gnomAD
rs17853951	p.Gly335Arg	missense variant	-	NC_000006.12:g.107210444C>T	ESP,ExAC,TOPMed,gnomAD
rs1308978291	p.Glu336Gly	missense variant	-	NC_000006.12:g.107210440T>C	gnomAD
rs373085431	p.Glu336Lys	missense variant	-	NC_000006.12:g.107210441C>T	ESP,ExAC,TOPMed,gnomAD
rs1360606025	p.Glu339Gly	missense variant	-	NC_000006.12:g.107193847T>C	TOPMed
rs368485073	p.Lys340Arg	missense variant	-	NC_000006.12:g.107193844T>C	ESP,gnomAD
rs1245958495	p.Lys340Glu	missense variant	-	NC_000006.12:g.107193845T>C	TOPMed
rs1219084549	p.Leu348Phe	missense variant	-	NC_000006.12:g.107154775C>A	TOPMed,gnomAD
RCV000195802	p.Arg349Gln	missense variant	-	NC_000006.12:g.107154773C>T	ClinVar
rs370370070	p.Arg349Ter	stop gained	-	NC_000006.12:g.107154774G>A	ESP,ExAC,TOPMed,gnomAD
rs201388841	p.Arg349Gln	missense variant	-	NC_000006.12:g.107154773C>T	ESP,ExAC,TOPMed,gnomAD
rs370370070	p.Arg349Gly	missense variant	-	NC_000006.12:g.107154774G>C	ESP,ExAC,TOPMed,gnomAD
RCV000779483	p.Arg349Ter	nonsense	Coenzyme Q10 deficiency, primary, 3 (COQ10D3)	NC_000006.12:g.107154774G>A	ClinVar
rs370370070	p.Arg349Ter	stop gained	-	NC_000006.12:g.107154774G>A	NCI-TCGA
COSM739766	p.Arg351Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.107154768T>A	NCI-TCGA Cosmic
rs782400799	p.Ala354Gly	missense variant	-	NC_000006.12:g.107154758G>C	ExAC,TOPMed,gnomAD
rs782032930	p.Ala354Thr	missense variant	-	NC_000006.12:g.107154759C>T	ExAC,gnomAD
rs372585824	p.Lys356Arg	missense variant	-	NC_000006.12:g.107154752T>C	ESP,ExAC,TOPMed,gnomAD
rs372585824	p.Lys356Thr	missense variant	-	NC_000006.12:g.107154752T>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser360Leu	missense variant	-	NC_000006.12:g.107154740G>A	NCI-TCGA
NCI-TCGA novel	p.Ile362Val	missense variant	-	NC_000006.12:g.107154735T>C	NCI-TCGA
rs1554245220	p.Cys365Arg	missense variant	-	NC_000006.12:g.107154726A>G	gnomAD
rs782134711	p.Cys365Ter	stop gained	-	NC_000006.12:g.107154724_107154725insT	ExAC,gnomAD
rs782590458	p.Arg366His	missense variant	-	NC_000006.12:g.107154722C>T	ExAC,TOPMed,gnomAD
rs370257390	p.Arg366Cys	missense variant	-	NC_000006.12:g.107154723G>A	ESP,ExAC,TOPMed,gnomAD
COSM4928675	p.Tyr367Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.107154718G>C	NCI-TCGA Cosmic
rs782454120	p.Asn370Asp	missense variant	-	NC_000006.12:g.107154711T>C	ExAC,gnomAD
rs781908852	p.Ala372Ser	missense variant	-	NC_000006.12:g.107154705C>A	ExAC,gnomAD
rs1442132012	p.Glu374Ala	missense variant	-	NC_000006.12:g.107154698T>G	TOPMed
rs782488737	p.Ala375Thr	missense variant	-	NC_000006.12:g.107154696C>T	ExAC,TOPMed,gnomAD
rs782503387	p.Leu376Pro	missense variant	-	NC_000006.12:g.107154692A>G	TOPMed,gnomAD
rs1554245186	p.Phe379Leu	missense variant	-	NC_000006.12:g.107154684A>G	gnomAD
RCV000001260	p.Ser382Leu	missense variant	Coenzyme Q10 deficiency, primary, 3 (COQ10D3)	NC_000006.12:g.107154674G>A	ClinVar
rs118203956	p.Ser382Leu	missense variant	Coenzyme q10 deficiency, primary, 3 (coq10d3)	NC_000006.12:g.107154674G>A	ESP,ExAC,TOPMed,gnomAD
rs1236270228	p.Ala384Val	missense variant	-	NC_000006.12:g.107154668G>A	TOPMed,gnomAD
rs147723975	p.Arg385Thr	missense variant	-	NC_000006.12:g.107154665C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147723975	p.Arg385Lys	missense variant	-	NC_000006.12:g.107154665C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1554245162	p.Ser386Cys	missense variant	-	NC_000006.12:g.107154662G>C	gnomAD
rs782380203	p.Ala387Thr	missense variant	-	NC_000006.12:g.107154660C>T	ExAC,gnomAD
rs782099223	p.Asn390Ser	missense variant	-	NC_000006.12:g.107154650T>C	ExAC,gnomAD
rs781959710	p.Val395Met	missense variant	-	NC_000006.12:g.107154636C>T	ExAC,gnomAD
rs369868953	p.Thr396Asn	missense variant	-	NC_000006.12:g.107154632G>T	ESP,ExAC,TOPMed,gnomAD
RCV000625943	p.Arg397Ter	frameshift	Coenzyme Q10 deficiency, primary, 3 (COQ10D3)	NC_000006.12:g.107154629_107154630del	ClinVar
rs1384031310	p.Arg397Gly	missense variant	-	NC_000006.12:g.107154630T>C	TOPMed,gnomAD
rs782189106	p.Phe398Tyr	missense variant	-	NC_000006.12:g.107154626A>T	ExAC,gnomAD
rs74325037	p.Phe398Leu	missense variant	-	NC_000006.12:g.107154625A>C	1000Genomes,ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002395	Alzheimer's Disease	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	GWASCAT
C0013604	Edema	phenotype	HPO
C0017668	Focal glomerulosclerosis	disease	BEFREE
C0019189	Hepatitis, Chronic	disease	BEFREE
C0022658	Kidney Diseases	group	BEFREE
C0023264	Leigh Disease	disease	BEFREE
C0023890	Liver Cirrhosis	disease	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0027726	Nephrotic Syndrome	group	HPO
C0030567	Parkinson Disease	disease	BEFREE
C0033687	Proteinuria	phenotype	HPO
C0038220	Status Epilepticus	disease	HPO
C0155320	Blindness, Cortical	disease	HPO
C0202236	Triglycerides measurement	phenotype	GWASDB
C0232466	Feeding difficulties	phenotype	HPO
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0268000	Body fluid retention	phenotype	HPO
C0543888	Epileptic encephalopathy	disease	GENOMICS_ENGLAND
C0684249	Carcinoma of lung	disease	BEFREE
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0751651	Mitochondrial Diseases	group	GENOMICS_ENGLAND
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1611184	Calcification of coronary artery	phenotype	GWASCAT;GWASDB
C1623038	Cirrhosis	disease	BEFREE
C1836440	Increased serum lactate	phenotype	HPO
C1843920	COENZYME Q10 DEFICIENCY	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C2267233	Neonatal Hypotonia	disease	HPO
C2677589	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9	disease	MGD
C2749515	Collapsing glomerulopathy	disease	BEFREE
C2931456	Prostate cancer, familial	disease	BEFREE
C3489791	Parkinson Disease, Familial, Type 1	disease	BEFREE
C3551954	COENZYME Q10 DEFICIENCY, PRIMARY, 1	disease	MGD
C3553349	COENZYME Q10 DEFICIENCY, PRIMARY, 6	disease	MGD
C3553354	COENZYME Q10 DEFICIENCY, PRIMARY, 2	disease	MGD
C3553358	COENZYME Q10 DEFICIENCY, PRIMARY, 3	disease	CLINVAR;CTD_human;MGD;UNIPROT
C3553374	COENZYME Q10 DEFICIENCY, PRIMARY, 5	disease	MGD
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C3810365	Central visual impairment	disease	HPO
C4048268	Cortical visual impairment	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI
GO:0046982	protein heterodimerization activity	IEA
GO:0050347	trans-octaprenyltranstransferase activity	IEA
GO:0000010	trans-hexaprenyltranstransferase activity	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006744	ubiquinone biosynthetic process	IEA
GO:0006744	ubiquinone biosynthetic process	IDA
GO:0006744	ubiquinone biosynthetic process	TAS
GO:0008299	isoprenoid biosynthetic process	IDA
GO:0050878	regulation of body fluid levels	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005759	mitochondrial matrix	TAS
GO:0005829	cytosol	IDA
GO:1990234	transferase complex	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-196854	Metabolism of vitamins and cofactors	TAS
R-HSA-2142789	Ubiquinol biosynthesis	TAS
R-HSA-8978934	Metabolism of cofactors	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in increased expression of PDSS2 mRNA	25614096
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of PDSS2 mRNA	19114083
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDSS2 mRNA	27188386
D000082	Acetaminophen	Acetaminophen results in decreased expression of PDSS2 mRNA	26497421
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of PDSS2 protein	20106945
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of PDSS2 mRNA	22100608; 27153756;
D000638	Amiodarone	Amiodarone results in increased expression of PDSS2 mRNA	24489787
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of PDSS2 mRNA	24449571
D016718	Arachidonic Acid	Arachidonic Acid results in decreased expression of PDSS2 mRNA	16704987
D001280	Atrazine	Atrazine results in decreased expression of PDSS2 mRNA	22378314
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PDSS2 mRNA	20064835; 20106945; 21632981; 22316170; 26238291;
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PDSS2 mRNA	21715664
C006780	bisphenol A	bisphenol A results in decreased methylation of PDSS2 5' UTR	30906313
C006780	bisphenol A	bisphenol A results in decreased expression of PDSS2 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of PDSS2 mRNA	30816183
D002259	Carbonyl Cyanide p-Trifluoromethoxyphenylhydrazone	Carbonyl Cyanide p-Trifluoromethoxyphenylhydrazone results in increased expression of PDSS2 mRNA	21308897
D002945	Cisplatin	Cisplatin results in decreased expression of PDSS2 mRNA	19561079
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of PDSS2 mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in decreased expression of PDSS2 mRNA	25562108
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in decreased expression of PDSS2 mRNA	24317228
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of PDSS2 mRNA	21266533
D004147	Dioxins	Dioxins affects the expression of PDSS2 mRNA	20463971
D004237	Diuron	Diuron results in increased expression of PDSS2 mRNA	21551480
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDSS2 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of PDSS2 mRNA	29803840
D013759	Dronabinol	Dronabinol affects the methylation of PDSS2 gene	26044905
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of PDSS2 mRNA	23129252
D005485	Flutamide	Flutamide results in increased expression of PDSS2 mRNA	24136188
D005557	Formaldehyde	Formaldehyde results in decreased expression of PDSS2 mRNA	23649840
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of PDSS2 mRNA	20044591
D006861	Hydrogen Peroxide	[Hydrogen Peroxide co-treated with Theophylline] results in increased expression of PDSS2 protein	18951874
D006861	Hydrogen Peroxide	Hydrogen Peroxide results in increased expression of PDSS2 mRNA	21308897
C492448	ICG 001	ICG 001 results in increased expression of PDSS2 mRNA	26191083
D007213	Indomethacin	Indomethacin results in increased expression of PDSS2 mRNA	28201806
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] affects the expression of PDSS2 mRNA	25613284
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of PDSS2 mRNA	28001369
D009532	Nickel	Nickel results in decreased expression of PDSS2 mRNA	24768652; 25583101;
D010634	Phenobarbital	Phenobarbital affects the expression of PDSS2 mRNA	19159669
D010936	Plant Extracts	Plant Extracts results in increased expression of PDSS2 mRNA	23557933
D011794	Quercetin	Quercetin results in decreased expression of PDSS2 mRNA	21632981
D012643	Selenium	Selenium results in decreased expression of PDSS2 mRNA	19244175
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] affects the expression of PDSS2 mRNA	25613284
D013806	Theophylline	[Hydrogen Peroxide co-treated with Theophylline] results in increased expression of PDSS2 protein	18951874
D013849	Thimerosal	Thimerosal results in decreased expression of PDSS2 mRNA	27188386
C034613	triacsin C	triacsin C results in decreased expression of PDSS2 mRNA	16704987
C012589	trichostatin A	trichostatin A results in increased expression of PDSS2 mRNA	24935251
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of PDSS2 mRNA	26179874
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDSS2 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of PDSS2 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of PDSS2 mRNA	23179753
D014635	Valproic Acid	Valproic Acid results in increased expression of PDSS2 mRNA	23179753; 24383497; 26272509;
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of PDSS2 gene	25560391

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0225	Disease mutation
KW-0414	Isoprene biosynthesis
KW-0496	Mitochondrion
KW-0621	Polymorphism
KW-1274	Primary mitochondrial disease
KW-1185	Reference proteome
KW-0808	Transferase
KW-0831	Ubiquinone biosynthesis

Interpro

InterPro ID	InterPro Term
IPR008949	Isoprenoid_synthase_dom_sf
IPR000092	Polyprenyl_synt

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF00348	polyprenyl_synt

Gene: PDSS2

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