CleftGeneDB-Search

Gene: SC5D

Basic information

Tag	Content
Uniprot ID	O75845; O00119; Q6GTM5; Q9UK15;
Entrez ID	6309
Genbank protein ID	EAW67520.1; BAB68218.1; BAA33729.1; BAD96406.1; BAA18970.1; AAH12333.1; BAD96861.1; AAF00544.1; AAH50427.1; BAG35518.1;
Genbank nucleotide ID	NM_001024956.2; NM_006918.4;
Ensembl protein ID	ENSP00000264027; ENSP00000376539;
Ensembl nucleotide ID	ENSG00000109929
Gene name	Lathosterol oxidase
Gene symbol	SC5D
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Catalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol in cholesterol biosynthesis.
Sequence	MDLVLRVADY YFFTPYVYPA TWPEDDIFRQ AISLLIVTNV GAYILYFFCA TLSYYFVFDH 60 ALMKHPQFLK NQVRREIKFT VQALPWISIL TVALFLLEIR GYSKLHDDLG EFPYGLFELV 120 VSIISFLFFT DMFIYWIHRG LHHRLVYKRL HKPHHIWKIP TPFASHAFHP IDGFLQSLPY 180 HIYPFIFPLH KVVYLSLYIL VNIWTISIHD GDFRVPQILQ PFINGSAHHT DHHMFFDYNY 240 GQYFTLWDRI GGSFKNPSSF EGKGPLSYVK EMTEGKRSSH SGNGCKNEKL FNGEFTKTE 299

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	SC5D	525154	Q3SYX8		Bos taurus	Prediction	More>>
1:1 ortholog	SC5D		E2R5C8		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	SC5D		A0A452DVT9		Capra hircus	Prediction	More>>
1:1 ortholog	SC5D	100063543	F6PHM2		Equus caballus	Prediction	More>>
1:1 ortholog	SC5D	6309	O75845		Homo sapiens	Prediction	More>>
1:1 ortholog	Sc5d	235293	O88822	CPO	Mus musculus	Publication	More>>
1:1 ortholog	SC5D	451624	A0A2J8N215		Pan troglodytes	Prediction	More>>
1:1 ortholog		100520925	A0A4X1VKK3		Sus scrofa	Prediction	More>>
1:1 ortholog	Sc5d	114100	Q9EQS5		Rattus norvegicus	Prediction	More>>
1:1 ortholog	sc5d		F1QG97		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs754367775	p.Asp2Gly	missense variant	-	NC_000011.10:g.121303380A>G	ExAC
NCI-TCGA novel	p.Leu3Ile	missense variant	-	NC_000011.10:g.121303382C>A	NCI-TCGA
rs1314421341	p.Leu3Val	missense variant	-	NC_000011.10:g.121303382C>G	TOPMed
COSM4018686	p.Leu3Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121303382C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val4Leu	missense variant	-	NC_000011.10:g.121303385G>C	NCI-TCGA
NCI-TCGA novel	p.Leu5Ile	missense variant	-	NC_000011.10:g.121303388C>A	NCI-TCGA
rs530515948	p.Leu5Phe	missense variant	-	NC_000011.10:g.121303388C>T	1000Genomes,ExAC,gnomAD
rs138026842	p.Arg6Cys	missense variant	-	NC_000011.10:g.121303391C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370681255	p.Arg6His	missense variant	-	NC_000011.10:g.121303392G>A	ESP,ExAC,TOPMed,gnomAD
rs370681255	p.Arg6Pro	missense variant	-	NC_000011.10:g.121303392G>C	ESP,ExAC,TOPMed,gnomAD
rs141930747	p.Ala8Thr	missense variant	-	NC_000011.10:g.121303397G>A	ESP,ExAC,TOPMed,gnomAD
rs780390547	p.Ala8Gly	missense variant	-	NC_000011.10:g.121303398C>G	ExAC,gnomAD
COSM6067819	p.Asp9His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121303400G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr11Phe	missense variant	-	NC_000011.10:g.121303407A>T	NCI-TCGA
rs1312339895	p.Tyr11Cys	missense variant	-	NC_000011.10:g.121303407A>G	gnomAD
COSM1351986	p.Phe12Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121303411T>G	NCI-TCGA Cosmic
rs1258520332	p.Phe13Leu	missense variant	-	NC_000011.10:g.121303412T>C	TOPMed
COSM1973089	p.Phe13LeuPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.121303408T>-	NCI-TCGA Cosmic
rs1376088223	p.Thr14Ile	missense variant	-	NC_000011.10:g.121303416C>T	gnomAD
rs755120774	p.Val17Glu	missense variant	-	NC_000011.10:g.121303425T>A	ExAC
rs1240163598	p.Val17Met	missense variant	-	NC_000011.10:g.121303424G>A	TOPMed,gnomAD
COSM6131556	p.Val17Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121303424G>T	NCI-TCGA Cosmic
rs781370638	p.Pro19Leu	missense variant	-	NC_000011.10:g.121303431C>T	ExAC,TOPMed,gnomAD
rs567132198	p.Ala20Val	missense variant	-	NC_000011.10:g.121303434C>T	1000Genomes,ExAC,gnomAD
rs1279164614	p.Thr21Ser	missense variant	-	NC_000011.10:g.121303436A>T	gnomAD
rs774144359	p.Trp22Arg	missense variant	-	NC_000011.10:g.121303439T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp22Cys	missense variant	-	NC_000011.10:g.121303441G>T	NCI-TCGA
rs771701236	p.Glu24Gly	missense variant	-	NC_000011.10:g.121303446A>G	ExAC,gnomAD
rs535006007	p.Glu24Lys	missense variant	-	NC_000011.10:g.121303445G>A	1000Genomes,ExAC,gnomAD
rs1290832394	p.Asp25Glu	missense variant	-	NC_000011.10:g.121303450T>G	TOPMed
rs760275444	p.Asp25Gly	missense variant	-	NC_000011.10:g.121303449A>G	ExAC,gnomAD
rs775226186	p.Asp25Asn	missense variant	-	NC_000011.10:g.121303448G>A	ExAC,gnomAD
COSM1297744	p.Asp26His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121303451G>C	NCI-TCGA Cosmic
rs1232164381	p.Ile27Leu	missense variant	-	NC_000011.10:g.121303454A>C	TOPMed
rs756641010	p.Arg29Ter	stop gained	-	NC_000011.10:g.121303460C>T	ExAC,gnomAD
RCV000007779	p.Arg29Gln	missense variant	Lathosterolosis	NC_000011.10:g.121303461G>A	ClinVar
rs104894295	p.Arg29Gln	missense variant	Lathosterolosis (LATHST)	NC_000011.10:g.121303461G>A	UniProt,dbSNP
VAR_014423	p.Arg29Gln	missense variant	Lathosterolosis (LATHST)	NC_000011.10:g.121303461G>A	UniProt
rs104894295	p.Arg29Gln	missense variant	-	NC_000011.10:g.121303461G>A	ExAC,TOPMed,gnomAD
rs372774910	p.Ile32Val	missense variant	-	NC_000011.10:g.121303469A>G	ESP,ExAC,TOPMed,gnomAD
rs927217561	p.Ser33Asn	missense variant	-	NC_000011.10:g.121303473G>A	TOPMed,gnomAD
rs1392535559	p.Leu34Pro	missense variant	-	NC_000011.10:g.121303476T>C	gnomAD
rs1331473729	p.Leu35Arg	missense variant	-	NC_000011.10:g.121303479T>G	gnomAD
rs760519059	p.Asn39His	missense variant	-	NC_000011.10:g.121303490A>C	gnomAD
rs760519059	p.Asn39Asp	missense variant	-	NC_000011.10:g.121303490A>G	gnomAD
COSM924033	p.Val40Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121303494T>C	NCI-TCGA Cosmic
rs534057534	p.Gly41Ser	missense variant	-	NC_000011.10:g.121303496G>A	gnomAD
rs534057534	p.Gly41Cys	missense variant	-	NC_000011.10:g.121303496G>T	gnomAD
rs1463404277	p.Ala42Thr	missense variant	-	NC_000011.10:g.121303499G>A	TOPMed
rs750889568	p.Ala42Val	missense variant	-	NC_000011.10:g.121303500C>T	ExAC,TOPMed,gnomAD
rs766593498	p.Tyr43Ser	missense variant	-	NC_000011.10:g.121303503A>C	ExAC,gnomAD
rs766593498	p.Tyr43Cys	missense variant	-	NC_000011.10:g.121303503A>G	ExAC,gnomAD
rs755292471	p.Leu45Ile	missense variant	-	NC_000011.10:g.121303508C>A	ExAC,gnomAD
rs1196249216	p.Leu45Pro	missense variant	-	NC_000011.10:g.121303509T>C	gnomAD
rs104894297	p.Tyr46Cys	missense variant	-	NC_000011.10:g.121303512A>G	ExAC,gnomAD
RCV000007781	p.Tyr46Ser	missense variant	Lathosterolosis	NC_000011.10:g.121303512A>C	ClinVar
rs104894297	p.Tyr46Ser	missense variant	-	NC_000011.10:g.121303512A>C	ExAC,gnomAD
rs104894297	p.Tyr46Ser	missense variant	Lathosterolosis (LATHST)	NC_000011.10:g.121303512A>C	UniProt,dbSNP
VAR_020829	p.Tyr46Ser	missense variant	Lathosterolosis (LATHST)	NC_000011.10:g.121303512A>C	UniProt
rs748296373	p.Phe48Leu	missense variant	-	NC_000011.10:g.121303517T>C	ExAC,TOPMed,gnomAD
rs1055144144	p.Ala50Ser	missense variant	-	NC_000011.10:g.121303523G>T	TOPMed
rs1250250949	p.Ala50Val	missense variant	-	NC_000011.10:g.121303524C>T	TOPMed
COSM924034	p.Ser53Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121303533G>T	NCI-TCGA Cosmic
rs1192802427	p.Tyr54Cys	missense variant	-	NC_000011.10:g.121303536A>G	gnomAD
rs778919181	p.Tyr55Cys	missense variant	-	NC_000011.10:g.121303539A>G	ExAC,TOPMed,gnomAD
rs558820432	p.Val57Leu	missense variant	-	NC_000011.10:g.121303544G>C	ExAC,TOPMed,gnomAD
rs148156529	p.Asp59Tyr	missense variant	-	NC_000011.10:g.121303550G>T	ESP,ExAC,TOPMed,gnomAD
rs148156529	p.Asp59Asn	missense variant	-	NC_000011.10:g.121303550G>A	ESP,ExAC,TOPMed,gnomAD
rs1170105159	p.Met63Thr	missense variant	-	NC_000011.10:g.121303563T>C	gnomAD
rs202105637	p.Met63Ile	missense variant	-	NC_000011.10:g.121303564G>A	ExAC,TOPMed,gnomAD
rs202105637	p.Met63Ile	missense variant	-	NC_000011.10:g.121303564G>T	ExAC,TOPMed,gnomAD
rs199546863	p.Lys64Glu	missense variant	-	NC_000011.10:g.121303565A>G	1000Genomes,ExAC,gnomAD
rs1377640597	p.Pro66Arg	missense variant	-	NC_000011.10:g.121303572C>G	gnomAD
rs753911880	p.Gln72Glu	missense variant	-	NC_000011.10:g.121304364C>G	ExAC,gnomAD
rs753911880	p.Gln72Ter	stop gained	-	NC_000011.10:g.121304364C>T	ExAC,gnomAD
rs762728349	p.Arg74Leu	missense variant	-	NC_000011.10:g.121304371G>T	TOPMed,gnomAD
rs762728349	p.Arg74His	missense variant	-	NC_000011.10:g.121304371G>A	TOPMed,gnomAD
rs142031519	p.Arg74Cys	missense variant	-	NC_000011.10:g.121304370C>T	ESP,ExAC,TOPMed,gnomAD
rs1313359281	p.Arg75Ter	stop gained	-	NC_000011.10:g.121304373C>T	gnomAD
rs780028779	p.Arg75Gln	missense variant	-	NC_000011.10:g.121304374G>A	ExAC,TOPMed,gnomAD
rs780028779	p.Arg75Leu	missense variant	-	NC_000011.10:g.121304374G>T	ExAC,TOPMed,gnomAD
RCV000298324	p.Arg75Gln	missense variant	Lathosterolosis	NC_000011.10:g.121304374G>A	ClinVar
rs1221482911	p.Glu76Ala	missense variant	-	NC_000011.10:g.121304377A>C	TOPMed
COSM466472	p.Glu76Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121304377A>T	NCI-TCGA Cosmic
rs751428422	p.Val81Ala	missense variant	-	NC_000011.10:g.121304392T>C	ExAC,gnomAD
rs1306108295	p.Ala83Thr	missense variant	-	NC_000011.10:g.121304397G>A	gnomAD
rs780916225	p.Trp86Cys	missense variant	-	NC_000011.10:g.121304408G>T	ExAC
rs1241382389	p.Ile87Leu	missense variant	-	NC_000011.10:g.121304409A>T	gnomAD
rs747864647	p.Leu90Ile	missense variant	-	NC_000011.10:g.121304418C>A	ExAC,gnomAD
rs1318464799	p.Thr91Ile	missense variant	-	NC_000011.10:g.121304422C>T	gnomAD
rs769370760	p.Ala93Thr	missense variant	-	NC_000011.10:g.121304427G>A	ExAC,TOPMed,gnomAD
rs1176968853	p.Leu96Trp	missense variant	-	NC_000011.10:g.121304437T>G	gnomAD
rs367613150	p.Glu98Asp	missense variant	-	NC_000011.10:g.121304444G>C	ESP
rs748818735	p.Ile99Met	missense variant	-	NC_000011.10:g.121304447A>G	ExAC,TOPMed,gnomAD
rs1251614258	p.Ile99Val	missense variant	-	NC_000011.10:g.121304445A>G	gnomAD
rs770499900	p.Gly101Cys	missense variant	-	NC_000011.10:g.121304451G>T	ExAC,gnomAD
rs907885684	p.Gly101Asp	missense variant	-	NC_000011.10:g.121304452G>A	TOPMed,gnomAD
rs770499900	p.Gly101Ser	missense variant	-	NC_000011.10:g.121304451G>A	ExAC,gnomAD
rs760074441	p.Asp107Asn	missense variant	-	NC_000011.10:g.121304469G>A	ExAC,TOPMed
rs1360822726	p.Asp108Asn	missense variant	-	NC_000011.10:g.121304472G>A	gnomAD
rs772599957	p.Asp108Gly	missense variant	-	NC_000011.10:g.121304473A>G	ExAC,gnomAD
COSM686812	p.Asp108His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121304472G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu109LysPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.121304474_121304475insAAAA	NCI-TCGA
rs1301468278	p.Pro113Ser	missense variant	-	NC_000011.10:g.121304487C>T	TOPMed,gnomAD
rs761081505	p.Tyr114Cys	missense variant	-	NC_000011.10:g.121304491A>G	ExAC
NCI-TCGA novel	p.Leu119Phe	missense variant	-	NC_000011.10:g.121306397C>T	NCI-TCGA
rs1163997112	p.Leu119His	missense variant	-	NC_000011.10:g.121306398T>A	TOPMed
rs35536707	p.Val121Ile	missense variant	-	NC_000011.10:g.121306403G>A	ExAC,TOPMed,gnomAD
rs138907200	p.Ile123Leu	missense variant	-	NC_000011.10:g.121306409A>T	ESP,ExAC,TOPMed,gnomAD
rs778688994	p.Ile123Met	missense variant	-	NC_000011.10:g.121306411A>G	ExAC,TOPMed,gnomAD
rs138907200	p.Ile123Val	missense variant	-	NC_000011.10:g.121306409A>G	ESP,ExAC,TOPMed,gnomAD
rs374351203	p.Ile124Met	missense variant	-	NC_000011.10:g.121306414A>G	ESP,ExAC,gnomAD
rs745432119	p.Ile124Leu	missense variant	-	NC_000011.10:g.121306412A>T	ExAC,TOPMed,gnomAD
rs745432119	p.Ile124Val	missense variant	-	NC_000011.10:g.121306412A>G	ExAC,TOPMed,gnomAD
rs948838311	p.Ile124Thr	missense variant	-	NC_000011.10:g.121306413T>C	TOPMed
NCI-TCGA novel	p.Leu127IlePheSerTerUnkUnk	frameshift	-	NC_000011.10:g.121306419_121306420insCATCATAGGGGTTCAAGAA	NCI-TCGA
rs747487483	p.Met132Ile	missense variant	-	NC_000011.10:g.121306438G>T	ExAC,TOPMed,gnomAD
rs1291553688	p.Met132Lys	missense variant	-	NC_000011.10:g.121306437T>A	gnomAD
rs907365711	p.Phe133Leu	missense variant	-	NC_000011.10:g.121306441C>G	TOPMed,gnomAD
rs768923312	p.Ile134Thr	missense variant	-	NC_000011.10:g.121306443T>C	ExAC,gnomAD
rs777014268	p.Tyr135Cys	missense variant	-	NC_000011.10:g.121306446A>G	ExAC,TOPMed,gnomAD
rs748479057	p.Trp136Arg	missense variant	-	NC_000011.10:g.121306448T>A	ExAC,gnomAD
rs1417104311	p.Trp136Ter	stop gained	-	NC_000011.10:g.121306449G>A	gnomAD
rs1475398906	p.Ile137Val	missense variant	-	NC_000011.10:g.121306451A>G	gnomAD
rs770048983	p.Gly140Ser	missense variant	-	NC_000011.10:g.121306460G>A	ExAC,TOPMed,gnomAD
rs770048983	p.Gly140Cys	missense variant	-	NC_000011.10:g.121306460G>T	ExAC,TOPMed,gnomAD
rs1406055563	p.His142Pro	missense variant	-	NC_000011.10:g.121306467A>C	gnomAD
rs773419961	p.His143Arg	missense variant	-	NC_000011.10:g.121306470A>G	ExAC,gnomAD
rs1160124045	p.Arg144Ile	missense variant	-	NC_000011.10:g.121306473G>T	TOPMed,gnomAD
rs745945948	p.Leu145LeuLysHisTyrLysTerSerUnk	stop gained	-	NC_000011.10:g.121306476_121306477insCAAACATTATAAATGATCT	ExAC,gnomAD
rs763026861	p.Val146Ile	missense variant	-	NC_000011.10:g.121306478G>A	ExAC,gnomAD
rs763026861	p.Val146Leu	missense variant	-	NC_000011.10:g.121306478G>T	ExAC,gnomAD
rs770986028	p.Tyr147His	missense variant	-	NC_000011.10:g.121306481T>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys148Met	missense variant	-	NC_000011.10:g.121306485A>T	NCI-TCGA
rs775350797	p.Lys148Glu	missense variant	-	NC_000011.10:g.121306484A>G	TOPMed,gnomAD
rs1450599623	p.Lys148Asn	missense variant	-	NC_000011.10:g.121306486G>C	gnomAD
rs142025005	p.Arg149Cys	missense variant	-	NC_000011.10:g.121307057C>T	ESP,ExAC,TOPMed,gnomAD
rs372030710	p.Arg149His	missense variant	-	NC_000011.10:g.121307058G>A	ExAC,TOPMed,gnomAD
rs373383957	p.His151Arg	missense variant	-	NC_000011.10:g.121307064A>G	ESP,ExAC,TOPMed,gnomAD
rs1359279182	p.His151Tyr	missense variant	-	NC_000011.10:g.121307063C>T	gnomAD
COSM1351988	p.His154Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121307073A>G	NCI-TCGA Cosmic
rs1353543186	p.Ile159Met	missense variant	-	NC_000011.10:g.121307089T>G	gnomAD
NCI-TCGA novel	p.Pro160His	missense variant	-	NC_000011.10:g.121307091C>A	NCI-TCGA
rs146322594	p.Pro160Ser	missense variant	-	NC_000011.10:g.121307090C>T	ESP,ExAC,TOPMed,gnomAD
rs1313249063	p.Pro162Ala	missense variant	-	NC_000011.10:g.121307096C>G	gnomAD
rs756654792	p.Ala164Thr	missense variant	-	NC_000011.10:g.121307102G>A	ExAC,gnomAD
rs1260386081	p.Ser165Gly	missense variant	-	NC_000011.10:g.121307105A>G	gnomAD
rs139637037	p.Ile171Val	missense variant	-	NC_000011.10:g.121307123A>G	ESP
rs764566210	p.Gly173Ala	missense variant	-	NC_000011.10:g.121307130G>C	ExAC
rs754288880	p.Gln176Arg	missense variant	-	NC_000011.10:g.121307139A>G	ExAC,gnomAD
rs1182798978	p.Ser177Asn	missense variant	-	NC_000011.10:g.121307142G>A	TOPMed,gnomAD
COSM1351989	p.Leu178Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121307145T>G	NCI-TCGA Cosmic
rs757562608	p.Pro179Ser	missense variant	-	NC_000011.10:g.121307147C>T	ExAC,gnomAD
rs779204454	p.Tyr180Ter	stop gained	-	NC_000011.10:g.121307152C>G	ExAC,gnomAD
rs746016466	p.His181Arg	missense variant	-	NC_000011.10:g.121307154A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ile182Thr	missense variant	-	NC_000011.10:g.121307157T>C	NCI-TCGA
rs144180704	p.Ile182Val	missense variant	-	NC_000011.10:g.121307156A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780238470	p.Ile182Met	missense variant	-	NC_000011.10:g.121307158A>G	ExAC,gnomAD
rs747051432	p.Tyr183His	missense variant	-	NC_000011.10:g.121307159T>C	ExAC,gnomAD
NCI-TCGA novel	p.Pro184His	missense variant	-	NC_000011.10:g.121307163C>A	NCI-TCGA
rs1239820473	p.Phe185Tyr	missense variant	-	NC_000011.10:g.121307166T>A	TOPMed
rs1239820473	p.Phe185Cys	missense variant	-	NC_000011.10:g.121307166T>G	TOPMed
COSM1351990	p.Phe187Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121307172T>G	NCI-TCGA Cosmic
rs1465426900	p.Pro188Gln	missense variant	-	NC_000011.10:g.121307175C>A	TOPMed,gnomAD
rs1465426900	p.Pro188Leu	missense variant	-	NC_000011.10:g.121307175C>T	TOPMed,gnomAD
rs769900227	p.Leu189Ser	missense variant	-	NC_000011.10:g.121307178T>C	ExAC,gnomAD
NCI-TCGA novel	p.His190Leu	missense variant	-	NC_000011.10:g.121307181A>T	NCI-TCGA
rs1223198009	p.His190Tyr	missense variant	-	NC_000011.10:g.121307180C>T	TOPMed
rs1389492973	p.Lys191Arg	missense variant	-	NC_000011.10:g.121307184A>G	gnomAD
rs773269151	p.Val192Met	missense variant	-	NC_000011.10:g.121307186G>A	ExAC,TOPMed,gnomAD
rs749173837	p.Tyr194Phe	missense variant	-	NC_000011.10:g.121307193A>T	ExAC,gnomAD
rs376481131	p.Ser196Thr	missense variant	-	NC_000011.10:g.121307199G>C	ESP,ExAC,gnomAD
rs1305350298	p.Tyr198His	missense variant	-	NC_000011.10:g.121307204T>C	TOPMed
COSM6131555	p.Tyr198Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121307205A>T	NCI-TCGA Cosmic
rs144254550	p.Leu200Ser	missense variant	-	NC_000011.10:g.121307211T>C	ESP,ExAC,TOPMed,gnomAD
rs767126672	p.Ile203Ser	missense variant	-	NC_000011.10:g.121307220T>G	ExAC,gnomAD
rs775033618	p.Thr205Ile	missense variant	-	NC_000011.10:g.121307226C>T	ExAC,gnomAD
rs1237177836	p.Ile206Val	missense variant	-	NC_000011.10:g.121307228A>G	TOPMed,gnomAD
rs1454877350	p.Ile208Val	missense variant	-	NC_000011.10:g.121307234A>G	TOPMed
COSM6131554	p.His209Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121307238A>G	NCI-TCGA Cosmic
rs760167278	p.Asp210Glu	missense variant	-	NC_000011.10:g.121307242C>A	ExAC,TOPMed,gnomAD
RCV000007780	p.Gly211Asp	missense variant	Lathosterolosis	NC_000011.10:g.121307244G>A	ClinVar
rs757168329	p.Gly211Ser	missense variant	-	NC_000011.10:g.121307243G>A	ExAC,TOPMed,gnomAD
rs104894296	p.Gly211Asp	missense variant	Lathosterolosis (LATHST)	NC_000011.10:g.121307244G>A	UniProt,dbSNP
VAR_014424	p.Gly211Asp	missense variant	Lathosterolosis (LATHST)	NC_000011.10:g.121307244G>A	UniProt
rs104894296	p.Gly211Asp	missense variant	-	NC_000011.10:g.121307244G>A	-
rs757168329	p.Gly211Arg	missense variant	-	NC_000011.10:g.121307243G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe213LeuPheSerTerUnk	frameshift	-	NC_000011.10:g.121307247_121307263ATTTTCGTGTCCCCCAA>-	NCI-TCGA
rs148689830	p.Arg214His	missense variant	-	NC_000011.10:g.121307253G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757650933	p.Arg214Cys	missense variant	-	NC_000011.10:g.121307252C>T	ExAC,gnomAD
rs1176651647	p.Val215Ile	missense variant	-	NC_000011.10:g.121307255G>A	gnomAD
rs370879876	p.Gln217Ter	stop gained	-	NC_000011.10:g.121307261C>T	ESP,TOPMed
rs373065072	p.Gln217His	missense variant	-	NC_000011.10:g.121307263A>C	ESP,ExAC,TOPMed,gnomAD
rs546458364	p.Ile218Val	missense variant	-	NC_000011.10:g.121307264A>G	1000Genomes,ExAC,gnomAD
rs1262313527	p.Gln220Glu	missense variant	-	NC_000011.10:g.121307270C>G	TOPMed
NCI-TCGA novel	p.Pro221Gln	missense variant	-	NC_000011.10:g.121307274C>A	NCI-TCGA
rs747141427	p.Pro221Ser	missense variant	-	NC_000011.10:g.121307273C>T	ExAC,gnomAD
COSM257950	p.Phe222Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121307277T>G	NCI-TCGA Cosmic
rs1301537043	p.Ala227Pro	missense variant	-	NC_000011.10:g.121307291G>C	gnomAD
NCI-TCGA novel	p.His228Tyr	missense variant	-	NC_000011.10:g.121307294C>T	NCI-TCGA
rs371081823	p.His229Arg	missense variant	-	NC_000011.10:g.121307298A>G	ESP,ExAC,TOPMed,gnomAD
rs1261338202	p.Thr230Ala	missense variant	-	NC_000011.10:g.121307300A>G	TOPMed
rs142234975	p.Asp231Asn	missense variant	-	NC_000011.10:g.121307303G>A	ESP,TOPMed
rs151190785	p.His232Arg	missense variant	-	NC_000011.10:g.121307307A>G	ExAC,gnomAD
rs778614572	p.Met234Ile	missense variant	-	NC_000011.10:g.121307314G>A	ExAC,TOPMed,gnomAD
rs778614572	p.Met234Ile	missense variant	-	NC_000011.10:g.121307314G>C	ExAC,TOPMed,gnomAD
rs770791777	p.Met234Val	missense variant	-	NC_000011.10:g.121307312A>G	ExAC,TOPMed,gnomAD
rs141293946	p.Asp237Glu	missense variant	-	NC_000011.10:g.121307323C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs745655742	p.Asp237Val	missense variant	-	NC_000011.10:g.121307322A>T	ExAC,gnomAD
rs1250786427	p.Tyr238Cys	missense variant	-	NC_000011.10:g.121307325A>G	TOPMed,gnomAD
rs1244071186	p.Gln242Arg	missense variant	-	NC_000011.10:g.121307337A>G	gnomAD
rs768100179	p.Gly251Asp	missense variant	-	NC_000011.10:g.121307364G>A	ExAC,TOPMed,gnomAD
rs762183407	p.Ser253Leu	missense variant	-	NC_000011.10:g.121307370C>T	ExAC,gnomAD
rs765742077	p.Ser258Leu	missense variant	-	NC_000011.10:g.121307385C>T	ExAC,TOPMed,gnomAD
COSM3444346	p.Ser259Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121307388C>T	NCI-TCGA Cosmic
rs1324083070	p.Glu261Gly	missense variant	-	NC_000011.10:g.121307394A>G	TOPMed,gnomAD
rs980102323	p.Lys263Thr	missense variant	-	NC_000011.10:g.121307400A>C	TOPMed
rs1474952519	p.Lys263Ter	stop gained	-	NC_000011.10:g.121307399A>T	TOPMed
rs745380178	p.Pro265Leu	missense variant	-	NC_000011.10:g.121307406C>T	ExAC,TOPMed,gnomAD
rs960058373	p.Tyr268Cys	missense variant	-	NC_000011.10:g.121307415A>G	TOPMed
rs1196786926	p.Val269Leu	missense variant	-	NC_000011.10:g.121307417G>C	TOPMed,gnomAD
rs367727061	p.Glu271Asp	missense variant	-	NC_000011.10:g.121307425G>C	ESP,TOPMed
rs1320403076	p.Met272Val	missense variant	-	NC_000011.10:g.121307426A>G	TOPMed,gnomAD
rs766772523	p.Met272Thr	missense variant	-	NC_000011.10:g.121307427T>C	ExAC,gnomAD
rs751763860	p.Lys276Glu	missense variant	-	NC_000011.10:g.121307438A>G	ExAC,gnomAD
rs114578771	p.Arg277Leu	missense variant	-	NC_000011.10:g.121307442G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs118099079	p.Arg277Cys	missense variant	-	NC_000011.10:g.121307441C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs114578771	p.Arg277His	missense variant	-	NC_000011.10:g.121307442G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757191362	p.Ser278Thr	missense variant	-	NC_000011.10:g.121307445G>C	ExAC,gnomAD
rs757191362	p.Ser278Asn	missense variant	-	NC_000011.10:g.121307445G>A	ExAC,gnomAD
rs745732638	p.Gly284Ser	missense variant	-	NC_000011.10:g.121307462G>A	ExAC,gnomAD
rs1230188994	p.Lys286Asn	missense variant	-	NC_000011.10:g.121307470G>C	TOPMed
NCI-TCGA novel	p.Glu288Lys	missense variant	-	NC_000011.10:g.121307474G>A	NCI-TCGA
rs771792307	p.Phe291Leu	missense variant	-	NC_000011.10:g.121307483T>C	ExAC,gnomAD
rs771541681	p.Asn292Asp	missense variant	-	NC_000011.10:g.121307486A>G	TOPMed
rs367608610	p.Asn292Ser	missense variant	-	NC_000011.10:g.121307487A>G	ESP,ExAC,TOPMed,gnomAD
rs768181937	p.Glu294Gly	missense variant	-	NC_000011.10:g.121307493A>G	ExAC,gnomAD
rs776041178	p.Glu294Asp	missense variant	-	NC_000011.10:g.121307494G>C	ExAC,gnomAD
rs1049044204	p.Phe295Leu	missense variant	-	NC_000011.10:g.121307497T>A	TOPMed,gnomAD
rs1299311512	p.Thr296Ala	missense variant	-	NC_000011.10:g.121307498A>G	gnomAD
rs1422744827	p.Thr296Ile	missense variant	-	NC_000011.10:g.121307499C>T	gnomAD
rs761361460	p.Lys297Glu	missense variant	-	NC_000011.10:g.121307501A>G	ExAC,TOPMed,gnomAD
rs1169447482	p.Thr298Ser	missense variant	-	NC_000011.10:g.121307505C>G	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0003803	Arnold Chiari Malformation	disease	HPO
C0005745	Blepharoptosis	disease	HPO
C0008372	Intrahepatic Cholestasis	disease	HPO
C0008925	Cleft Palate	disease	BEFREE
C0011053	Deafness	phenotype	HPO
C0014544	Epilepsy	disease	HPO
C0015934	Fetal Growth Retardation	phenotype	HPO
C0017566	Gingival Hyperplasia	phenotype	HPO
C0017567	Gingival Hypertrophy	disease	HPO
C0018772	Hearing Loss, Partial	phenotype	HPO
C0019209	Hepatomegaly	phenotype	HPO
C0020796	Profound Mental Retardation	disease	CTD_human
C0021296	Infant, Small for Gestational Age	phenotype	HPO
C0023895	Liver diseases	group	CTD_human
C0025299	Meningocele	disease	HPO
C0025362	Mental Retardation	disease	BEFREE
C0025363	Mental Retardation, Psychosocial	disease	CTD_human
C0025990	Micrognathism	disease	BEFREE;HPO
C0026827	Muscle hypotonia	phenotype	HPO
C0027066	Myoclonus	phenotype	HPO
C0036572	Seizures	phenotype	HPO
C0040034	Thrombocytopenia	phenotype	HPO
C0085605	Liver Failure	disease	HPO
C0086543	Cataract	disease	GENOMICS_ENGLAND;HPO
C0086565	Liver Dysfunction	phenotype	CTD_human
C0152427	Polydactyly	disease	GENOMICS_ENGLAND
C0175694	Smith-Lemli-Opitz Syndrome	disease	BEFREE
C0221353	Horseshoe Kidney	disease	HPO
C0231246	Failure to gain weight	phenotype	HPO
C0240543	Bulbous nose	phenotype	HPO
C0240635	Byzanthine arch palate	disease	HPO
C0265660	Syndactyly of the toes	disease	HPO
C0266435	Congenital hypoplasia of penis	disease	HPO
C0266544	Microcornea	disease	HPO
C0270685	Cerebral calcification	phenotype	HPO
C0339789	Congenital deafness	disease	HPO
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0376480	Gingival Overgrowth	phenotype	HPO
C0392386	Decreased platelet count	phenotype	HPO
C0423110	Downward slant of palpebral fissure	phenotype	HPO
C0423250	Corneal stromal opacities	phenotype	HPO
C0424688	Small head	phenotype	HPO
C0426414	Small nose	phenotype	HPO
C0431904	Ulnar polydactyly of fingers	disease	HPO
C0557874	Global developmental delay	disease	HPO
C0600139	Prostate carcinoma	disease	BEFREE
C0678230	Congenital Epicanthus	disease	HPO
C0855742	Abnormal platelet morphology	phenotype	HPO
C0917816	Mental deficiency	disease	CTD_human
C1096367	Increased mean platelet volume	phenotype	HPO
C1167713	Decreased corneal diameter	phenotype	HPO
C1301937	Talipes	disease	HPO
C1384666	hearing impairment	phenotype	HPO
C1386048	Intrauterine retardation	phenotype	HPO
C1510497	Lens Opacities	phenotype	HPO
C1704276	Spasmodic movement	phenotype	HPO
C1834118	Potato nose	phenotype	HPO
C1837218	Cleft palate, isolated	disease	BEFREE
C1839758	Narrow forehead	phenotype	HPO
C1840077	Anteverted nostril	phenotype	HPO
C1846421	Lathosterolosis	disease	BEFREE;CLINVAR;CTD_human;ORPHANET;UNIPROT
C1854114	Short nose	phenotype	HPO
C1854302	Involuntary jerking movements	phenotype	HPO
C1854418	Biparietal narrowing	phenotype	HPO
C1855751	Bulbous nasal tip	phenotype	HPO
C1856661	Cloudy cornea	phenotype	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1857679	Sloping forehead	phenotype	HPO
C1857949	Prominent metopic ridge	phenotype	HPO
C1858120	Generalized hypotonia	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C1865014	Long philtrum	phenotype	HPO
C1866195	Downturned corners of mouth	phenotype	HPO
C1866231	Full cheeks	phenotype	HPO
C2112129	Postaxial foot polydactyly	disease	HPO
C2315100	Pediatric failure to thrive	disease	HPO
C2675557	Lumbosacral meningocele	phenotype	HPO
C2675920	Anisopoikilocytosis	phenotype	HPO
C2748653	Chubby cheeks	phenotype	HPO
C2981150	Uranostaphyloschisis	disease	BEFREE
C3552713	Talipes foot deformities	phenotype	HPO
C3714756	Intellectual Disability	group	BEFREE;CTD_human;GENOMICS_ENGLAND
C3806443	Puffy cheeks	phenotype	HPO
C4020865	Fibular polydactyly	disease	HPO
C4020875	Mental and motor retardation	phenotype	HPO
C4021989	Abnormality of the thoracic spine	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4024710	Cerebellar cortical atrophy	disease	HPO
C4025790	Specific learning disability	disease	HPO
C4280532	Decreased width of the skull	phenotype	HPO
C4280647	Hypertrophy of cheeks	phenotype	HPO
C4280648	Hyperplasia of cheeks	phenotype	HPO
C4476522	Oral soft tissue hyperplasia	phenotype	HPO
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO
C4531021	Undergrowth	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000248	C-5 sterol desaturase activity	EXP
GO:0000248	C-5 sterol desaturase activity	IBA
GO:0005506	iron ion binding	IEA
GO:0016491	oxidoreductase activity	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006629	lipid metabolic process	TAS
GO:0016126	sterol biosynthetic process	IBA
GO:0033489	cholesterol biosynthetic process via desmosterol	TAS
GO:0033490	cholesterol biosynthetic process via lathosterol	IBA
GO:0033490	cholesterol biosynthetic process via lathosterol	TAS
GO:0045540	regulation of cholesterol biosynthetic process	TAS
GO:0055114	oxidation-reduction process	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005789	endoplasmic reticulum membrane	IBA
GO:0005789	endoplasmic reticulum membrane	TAS
GO:0016020	membrane	IBA
GO:0016021	integral component of membrane	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-1655829	Regulation of cholesterol biosynthesis by SREBP (SREBF)	TAS
R-HSA-191273	Cholesterol biosynthesis	TAS
R-HSA-2426168	Activation of gene expression by SREBF (SREBP)	TAS
R-HSA-556833	Metabolism of lipids	TAS
R-HSA-6807047	Cholesterol biosynthesis via desmosterol	TAS
R-HSA-6807062	Cholesterol biosynthesis via lathosterol	TAS
R-HSA-8957322	Metabolism of steroids	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in increased expression of SC5D mRNA	28903501
C036423	1-aminomethylphosphonic acid	[Herbicides co-treated with 1-aminomethylphosphonic acid co-treated with mecoprop co-treated with acetochlor co-treated with 2,4-Dichlorophenoxyacetic Acid] results in decreased expression of SC5D mRNA	20566314
D020001	1-Butanol	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of SC5D mRNA	29432896
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[Tetrachlorodibenzodioxin co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with Diethylhexyl Phthalate co-treated with bisphenol A] results in decreased expression of SC5D mRNA	28433925
D015084	2,4-Dichlorophenoxyacetic Acid	[Herbicides co-treated with 1-aminomethylphosphonic acid co-treated with mecoprop co-treated with acetochlor co-treated with 2,4-Dichlorophenoxyacetic Acid] results in decreased expression of SC5D mRNA	20566314
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of SC5D mRNA	21346803
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of SC5D mRNA	21346803
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in increased expression of SC5D mRNA	23196670
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of SC5D mRNA	18648102
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat 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 SC5D mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SC5D mRNA	27188386
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 SC5D mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in increased expression of SC5D mRNA	19150397; 20382639;
D015124	8-Bromo Cyclic Adenosine Monophosphate	8-Bromo Cyclic Adenosine Monophosphate results in increased expression of SC5D mRNA	22079614
C496492	abrine	abrine results in decreased expression of SC5D mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in increased expression of SC5D mRNA	26690555
D000086	Acetazolamide	Acetazolamide results in increased expression of SC5D mRNA	19274763
C043377	acetochlor	[Herbicides co-treated with 1-aminomethylphosphonic acid co-treated with mecoprop co-treated with acetochlor co-treated with 2,4-Dichlorophenoxyacetic Acid] results in decreased expression of SC5D mRNA	20566314
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of SC5D protein	20106945
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of SC5D mRNA	22100608; 27153756;
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of SC5D mRNA	19770486
D000452	Aldrin	Aldrin results in increased expression of SC5D mRNA	18579281
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of SC5D mRNA	16483693
C519728	archazolid B	archazolid B results in increased expression of SC5D mRNA	25218289
D001280	Atrazine	Atrazine results in decreased expression of SC5D mRNA	25929836
D001554	Benzene	Benzene results in increased expression of SC5D mRNA	19162166
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of SC5D mRNA	21632981
D001564	Benzo(a)pyrene	AHR protein affects the reaction [Benzo(a)pyrene affects the expression of SC5D mRNA]	22228805
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of SC5D mRNA	19770486
C006780	bisphenol A	bisphenol A results in increased expression of SC5D mRNA	21932408; 25270620;
C006780	bisphenol A	[Tetrachlorodibenzodioxin co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with Diethylhexyl Phthalate co-treated with bisphenol A] results in decreased expression of SC5D mRNA	28433925
C006780	bisphenol A	bisphenol A results in decreased expression of SC5D mRNA	25181051; 30816183;
C018475	butyraldehyde	butyraldehyde results in decreased expression of SC5D mRNA	26079696
D002110	Caffeine	Caffeine results in decreased expression of SC5D mRNA	25868845
D002220	Carbamazepine	Carbamazepine affects the expression of SC5D mRNA	25979313
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of SC5D mRNA	27339419
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of SC5D mRNA	31150632
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in decreased expression of SC5D mRNA	23650126
D002737	Chloroprene	Chloroprene results in decreased expression of SC5D mRNA	23125180
D002746	Chlorpromazine	Chlorpromazine results in increased expression of SC5D mRNA	17052361
D004390	Chlorpyrifos	Chlorpyrifos results in decreased expression of SC5D mRNA	18668222
C043561	chrysin	chrysin results in decreased expression of SC5D mRNA	20816778
D002922	Ciguatoxins	Ciguatoxins affects the expression of SC5D mRNA	18353800
D002945	Cisplatin	Cisplatin results in decreased expression of SC5D mRNA	27594783
D002994	Clofibrate	Clofibrate results in increased expression of SC5D mRNA	17585979
D003024	Clozapine	Clozapine results in increased expression of SC5D mRNA	17052361
C018021	cobaltous chloride	cobaltous chloride results in increased expression of SC5D mRNA	19376846
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of SC5D mRNA	19549813
D019327	Copper Sulfate	Copper Sulfate results in increased expression of SC5D mRNA	12860252
D019327	Copper Sulfate	Copper Sulfate results in increased expression of SC5D mRNA	18579281
D016572	Cyclosporine	Cyclosporine results in decreased expression of SC5D mRNA	20106945; 25562108;
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of SC5D mRNA	17361019; 21266533;
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of SC5D mRNA	21266533
C000944	dicrotophos	dicrotophos results in decreased expression of SC5D mRNA	28302478
D004041	Dietary Fats	[Dietary Fats co-treated with Dietary Sucrose] results in decreased expression of SC5D mRNA	28433925
D004041	Dietary Fats	Dietary Fats results in decreased expression of SC5D mRNA	22609946; 30120929;
D019422	Dietary Sucrose	[Dietary Fats co-treated with Dietary Sucrose] results in decreased expression of SC5D mRNA	28433925
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of SC5D mRNA	19850644
D004051	Diethylhexyl Phthalate	[Tetrachlorodibenzodioxin co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with Diethylhexyl Phthalate co-treated with bisphenol A] results in decreased expression of SC5D mRNA	28433925
D004052	Diethylnitrosamine	Diethylnitrosamine results in decreased expression of SC5D mRNA	19638242
C115058	difenoconazole	difenoconazole results in increased expression of SC5D mRNA	28263823
D013196	Dihydrotestosterone	Dihydrotestosterone results in increased expression of SC5D mRNA	29458080
D013196	Dihydrotestosterone	Dihydrotestosterone results in increased expression of SC5D mRNA	29581250
C025605	diisobutyl phthalate	diisobutyl phthalate results in increased expression of SC5D mRNA	29458080
C051904	dinophysistoxin 1	dinophysistoxin 1 results in decreased expression of SC5D mRNA	28939011
D004237	Diuron	Diuron results in decreased expression of SC5D mRNA	21551480
C516138	dorsomorphin	[NOG protein co-treated with entinostat 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 SC5D mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SC5D mRNA	27188386
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 SC5D mRNA	27188386
D013759	Dronabinol	Dronabinol results in decreased expression of SC5D mRNA	18584336
D004726	Endosulfan	Endosulfan affects the expression of SC5D mRNA	29391264
C118739	entinostat	entinostat results in increased expression of SC5D mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat 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 SC5D mRNA	27188386
D004785	Environmental Pollutants	Environmental Pollutants results in increased expression of SC5D mRNA	20064776
D004958	Estradiol	Estradiol affects the expression of SC5D mRNA	23557687
D004958	Estradiol	Estradiol results in decreased expression of SC5D mRNA	19484750
D000431	Ethanol	Ethanol affects the splicing of SC5D mRNA	30319688
D000431	Ethanol	Ethanol results in increased expression of SC5D mRNA	30319688
C024565	ethylene dichloride	ethylene dichloride results in decreased expression of SC5D mRNA	28189721
C002994	ethylene dimethanesulfonate	ethylene dimethanesulfonate results in decreased expression of SC5D mRNA	22711419
C545733	fatostatin	fatostatin results in decreased expression of SC5D mRNA	19716478
D005228	Fatty Acids, Essential	Fatty Acids, Essential deficiency results in increased expression of SC5D mRNA	23333450
C033789	fenarimol	fenarimol results in increased expression of SC5D mRNA	28970091
D017313	Fenretinide	Fenretinide results in decreased expression of SC5D mRNA	28973697
C082360	fipronil	fipronil results in increased expression of SC5D mRNA	23962444
C007738	fluoranthene	fluoranthene results in decreased expression of SC5D mRNA	28329830
C061365	flusilazole	flusilazole results in increased expression of SC5D mRNA	22664269; 28263823;
D005485	Flutamide	Flutamide results in decreased expression of SC5D mRNA	24136188
D005742	Gasoline	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of SC5D mRNA	29432896
D005742	Gasoline	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of SC5D mRNA	29432896
D019833	Genistein	Genistein results in decreased expression of SC5D mRNA	20816778
D019833	Genistein	Genistein results in increased expression of SC5D mRNA	17341692
C010974	glyphosate	glyphosate results in increased expression of SC5D mRNA	25636363
D006220	Haloperidol	Haloperidol results in increased expression of SC5D mRNA	17052361
D006540	Herbicides	[Herbicides co-treated with 1-aminomethylphosphonic acid co-treated with mecoprop co-treated with acetochlor co-treated with 2,4-Dichlorophenoxyacetic Acid] results in decreased expression of SC5D mRNA	20566314
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of SC5D mRNA	20044591
D006861	Hydrogen Peroxide	[isoquercitrin co-treated with Hydrogen Peroxide] results in increased expression of SC5D mRNA	18032389
C492448	ICG 001	ICG 001 results in decreased expression of SC5D mRNA	26191083
C040507	isobutyl alcohol	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of SC5D mRNA	29432896
C016527	isoquercitrin	[isoquercitrin co-treated with Hydrogen Peroxide] results in increased expression of SC5D mRNA	18032389
D015474	Isotretinoin	Isotretinoin results in decreased expression of SC5D mRNA	20436886
C410337	K 7174	K 7174 results in increased expression of SC5D mRNA	24086573
D007654	Ketoconazole	Ketoconazole results in increased expression of SC5D mRNA	28263823
D019344	Lactic Acid	Lactic Acid results in increased expression of SC5D mRNA	30851411
D064704	Levofloxacin	Levofloxacin results in increased expression of SC5D mRNA	24136188
C482199	lipopolysaccharide, E coli O55-B5	lipopolysaccharide, E coli O55-B5 results in increased expression of SC5D mRNA	24972896
D008070	Lipopolysaccharides	[Lipopolysaccharides co-treated with Resveratrol] results in decreased expression of SC5D mRNA	26667767
D058185	Magnetite Nanoparticles	[Succimer binds to Magnetite Nanoparticles] which results in decreased expression of SC5D mRNA	21641980
C008340	mecoprop	[Herbicides co-treated with 1-aminomethylphosphonic acid co-treated with mecoprop co-treated with acetochlor co-treated with 2,4-Dichlorophenoxyacetic Acid] results in decreased expression of SC5D mRNA	20566314
C032429	methyl farnesoate	methyl farnesoate results in decreased expression of SC5D mRNA	27553699
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of SC5D mRNA	26011545
D008777	Methyltestosterone	Methyltestosterone results in increased expression of SC5D mRNA	29458080
C583365	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide results in decreased expression of SC5D mRNA	29244179
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of SC5D mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of SC5D mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of SC5D mRNA	25554681
C022838	nickel chloride	nickel chloride results in decreased expression of SC5D mRNA	17312168
C029938	nickel sulfate	nickel sulfate results in increased expression of SC5D mRNA	22714537
D009538	Nicotine	Nicotine results in increased expression of SC5D mRNA	17456735
C464660	obeticholic acid	obeticholic acid results in decreased expression of SC5D mRNA	27939613
C025589	ochratoxin A	ochratoxin A results in decreased expression of SC5D mRNA	19287073
D019319	Okadaic Acid	Okadaic Acid results in decreased expression of SC5D mRNA	28939011
D000077152	Olanzapine	Olanzapine results in increased expression of SC5D mRNA	17052361
D010126	Ozone	Ozone results in decreased expression of SC5D mRNA	16183385
C016030	pantogab	pantogab results in decreased expression of SC5D mRNA	17379144
D052638	Particulate Matter	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of SC5D mRNA	29432896
D052638	Particulate Matter	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of SC5D mRNA	29432896
D010416	Pentachlorophenol	Pentachlorophenol results in decreased expression of SC5D mRNA	29458080
C046012	pentanal	pentanal results in decreased expression of SC5D mRNA	26079696
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in decreased expression of SC5D mRNA	27153767
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of SC5D mRNA	17681415
D010656	Phenylephrine	Phenylephrine results in increased expression of SC5D mRNA	18158353
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SC5D mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of SC5D mRNA	26272509
D010672	Phenytoin	Phenytoin results in increased expression of SC5D mRNA	14741686
D010795	Phthalic Acids	Phthalic Acids results in decreased expression of SC5D mRNA	15728792
D010795	Phthalic Acids	Phthalic Acids results in increased expression of SC5D mRNA	21061450
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of SC5D mRNA	19710929
C006253	pirinixic acid	pirinixic acid results in decreased expression of SC5D mRNA	18445702; 23811191;
C006253	pirinixic acid	pirinixic acid results in increased expression of SC5D mRNA	15777286; 20059764;
C006253	pirinixic acid	PPARA protein affects the reaction [pirinixic acid results in increased expression of SC5D mRNA]	15777286
C006253	pirinixic acid	PPARA protein promotes the reaction [pirinixic acid results in increased expression of SC5D mRNA]	20059764
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of SC5D mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of SC5D mRNA	29432896
C572919	PP242	PP242 results in decreased expression of SC5D mRNA	30679557
D011285	Pregnenolone Carbonitrile	Pregnenolone Carbonitrile results in decreased expression of SC5D mRNA	28903501
D011374	Progesterone	Progesterone results in increased expression of SC5D mRNA	23012394
D011374	Progesterone	Progesterone results in increased expression of SC5D mRNA	18070364
C045950	propiconazole	propiconazole results in increased expression of SC5D mRNA	28970091
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of SC5D mRNA	24780913
C030984	pyrene	pyrene results in decreased expression of SC5D mRNA	23656968
D000077185	Resveratrol	[Lipopolysaccharides co-treated with Resveratrol] results in decreased expression of SC5D mRNA	26667767
D000077154	Rosiglitazone	Rosiglitazone results in decreased expression of SC5D mRNA	25572481
D012402	Rotenone	Rotenone results in increased expression of SC5D mRNA	28374803
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of SC5D mRNA	23221170
D012822	Silicon Dioxide	Silicon Dioxide results in increased expression of SC5D mRNA	29203145
C016104	sodium bichromate	sodium bichromate results in decreased expression of SC5D mRNA	24612858
D012999	Soman	Soman results in increased expression of SC5D mRNA	19281266
D004113	Succimer	[Succimer binds to Magnetite Nanoparticles] which results in decreased expression of SC5D mRNA	21641980
D000077210	Sunitinib	Sunitinib results in decreased expression of SC5D mRNA	31533062
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of SC5D mRNA	31299295
C087114	tebuconazole	tebuconazole results in increased expression of SC5D mRNA	28970091
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of SC5D mRNA	26377647
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with Diethylhexyl Phthalate co-treated with bisphenol A] results in decreased expression of SC5D mRNA	28433925
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of SC5D mRNA	18796159; 28213091; 28922406;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of SC5D mRNA	21215274
D019284	Thapsigargin	Thapsigargin results in increased expression of SC5D mRNA	29453283
D000077867	Tolcapone	Tolcapone results in increased expression of SC5D mRNA	24136188
D014212	Tretinoin	Tretinoin results in decreased expression of SC5D mRNA	20530235
D014212	Tretinoin	Tretinoin results in increased expression of SC5D mRNA	20488242
D014241	Trichloroethylene	Trichloroethylene results in increased methylation of SC5D gene	27618143
C012589	trichostatin A	trichostatin A results in increased expression of SC5D mRNA	24935251
D014260	Triclosan	Triclosan results in increased expression of SC5D mRNA	29596926
D014284	Triiodothyronine	Triiodothyronine results in increased expression of SC5D mRNA	15953391
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of SC5D mRNA	26179874
C406224	valdecoxib	valdecoxib results in increased expression of SC5D mRNA	24136188
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 SC5D mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in increased expression of SC5D mRNA	23179753; 24383497; 24935251; 26272509;
D014635	Valproic Acid	Valproic Acid affects the expression of SC5D mRNA	17292431
D014638	Vanadates	Vanadates results in decreased expression of SC5D mRNA	22714537
C025643	vinclozolin	vinclozolin results in increased expression of SC5D mRNA	22570695
D024483	Vitamin K 3	Vitamin K 3 affects the expression of SC5D mRNA	20044591
C066632	yessotoxin	yessotoxin analog results in increased expression of SC5D mRNA	30679557
C092292	ziprasidone	ziprasidone results in increased expression of SC5D mRNA	17052361
D000077211	Zoledronic Acid	Zoledronic Acid results in increased expression of SC5D mRNA	24714768

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0225	Disease mutation
KW-0256	Endoplasmic reticulum
KW-0408	Iron
KW-0444	Lipid biosynthesis
KW-0443	Lipid metabolism
KW-0472	Membrane
KW-0560	Oxidoreductase
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0752	Steroid biosynthesis
KW-0753	Steroid metabolism
KW-0756	Sterol biosynthesis
KW-1207	Sterol metabolism
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR006694	Fatty_acid_hydroxylase

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF04116	FA_hydroxylase

Gene: SC5D

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