CleftGeneDB-Search

Gene: SERPINH1

Basic information

Tag	Content
Uniprot ID	P50454; B3KVJ3; P29043; Q5XPB4; Q6NSJ6; Q8IY96; Q9NP88;
Entrez ID	871
Genbank protein ID	BAA11829.1; AAU95378.1; CAA43795.1; AAP93914.1; BAA96789.1; AAP35758.1; EAW74974.1; AAH14623.1; AAH36298.2; AAH70087.1; BAA96788.1; BAG53805.1;
Genbank nucleotide ID	NM_001207014.1; XM_011545327.1; NM_001235.3;
Ensembl protein ID	ENSP00000350894; ENSP00000434657; ENSP00000434412;
Ensembl nucleotide ID	ENSG00000149257
Gene name	Serpin H1
Gene symbol	SERPINH1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen.
Sequence	MRSLLLLSAF CLLEAALAAE VKKPAAAAAP GTAEKLSPKA ATLAERSAGL AFSLYQAMAK 60 DQAVENILVS PVVVASSLGL VSLGGKATTA SQAKAVLSAE QLRDEEVHAG LGELLRSLSN 120 STARNVTWKL GSRLYGPSSV SFADDFVRSS KQHYNCEHSK INFRDKRSAL QSINEWAAQT 180 TDGKLPEVTK DVERTDGALL VNAMFFKPHW DEKFHHKMVD NRGFMVTRSY TVGVMMMHRT 240 GLYNYYDDEK EKLQIVEMPL AHKLSSLIIL MPHHVEPLER LEKLLTKEQL KIWMGKMQKK 300 AVAISLPKGV VEVTHDLQKH LAGLGLTEAI DKNKADLSRM SGKKDLYLAS VFHATAFELD 360 TDGNPFDQDI YGREELRSPK LFYADHPFIF LVRDTQSGSL LFIGRLVRPK GDKMRDEL 418

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	SERPINH1	510850	Q2KJH6		Bos taurus	Prediction	More>>
1:1 ortholog	SERPINH1	485187	E2RHY7		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	SERPINH1	102171265	A0A452DNR6		Capra hircus	Prediction	More>>
1:1 ortholog	SERPINH1		F6PWV8		Equus caballus	Prediction	More>>
1:1 ortholog	SERPINH1	871	P50454		Homo sapiens	Prediction	More>>
1:1 ortholog	Serpinh1	12406	P19324	CPO	Mus musculus	Publication	More>>
1:1 ortholog	SERPINH1	466899	G2HFZ7		Pan troglodytes	Prediction	More>>
1:1 ortholog	SERPINH1		A0A286ZRU9		Sus scrofa	Prediction	More>>
1:1 ortholog	Serpinh1		Q5RJR9		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1179959048	p.Arg2Cys	missense variant	-	NC_000011.10:g.75566353C>T	TOPMed
rs776045465	p.Arg2His	missense variant	-	NC_000011.10:g.75566354G>A	ExAC,gnomAD
rs763538958	p.Ser3Phe	missense variant	-	NC_000011.10:g.75566357C>T	ExAC,gnomAD
rs764762999	p.Leu7Phe	missense variant	-	NC_000011.10:g.75566368C>T	ExAC,gnomAD
rs1243981635	p.Ala9Thr	missense variant	-	NC_000011.10:g.75566374G>A	gnomAD
rs757293522	p.Phe10Ser	missense variant	-	NC_000011.10:g.75566378T>C	ExAC,gnomAD
rs751588882	p.Phe10Val	missense variant	-	NC_000011.10:g.75566377T>G	ExAC,gnomAD
rs1411853245	p.Cys11Tyr	missense variant	-	NC_000011.10:g.75566381G>A	gnomAD
rs767726256	p.Leu13Gln	missense variant	-	NC_000011.10:g.75566387T>A	ExAC,gnomAD
rs750583954	p.Glu14Lys	missense variant	-	NC_000011.10:g.75566389G>A	ExAC,gnomAD
rs750583954	p.Glu14Gln	missense variant	-	NC_000011.10:g.75566389G>C	ExAC,gnomAD
rs779814242	p.Ala16Val	missense variant	-	NC_000011.10:g.75566396C>T	ExAC,TOPMed,gnomAD
rs749150631	p.Ala18Thr	missense variant	-	NC_000011.10:g.75566401G>A	ExAC,gnomAD
rs778730843	p.Ala19Thr	missense variant	-	NC_000011.10:g.75566404G>A	ExAC,TOPMed,gnomAD
rs778730843	p.Ala19Ser	missense variant	-	NC_000011.10:g.75566404G>T	ExAC,TOPMed,gnomAD
rs200397594	p.Glu20Lys	missense variant	-	NC_000011.10:g.75566407G>A	ExAC,TOPMed,gnomAD
rs1455685529	p.Pro24Arg	missense variant	-	NC_000011.10:g.75566420C>G	gnomAD
rs775990446	p.Ala25Thr	missense variant	-	NC_000011.10:g.75566422G>A	ExAC,TOPMed,gnomAD
rs1008194909	p.Ala25Val	missense variant	-	NC_000011.10:g.75566423C>T	TOPMed,gnomAD
rs1255465997	p.Ala27Thr	missense variant	-	NC_000011.10:g.75566428G>A	TOPMed,gnomAD
rs1458579009	p.Ala29Pro	missense variant	-	NC_000011.10:g.75566434G>C	TOPMed
rs774738608	p.Ala29Gly	missense variant	-	NC_000011.10:g.75566435C>G	ExAC,TOPMed,gnomAD
rs774738608	p.Ala29Val	missense variant	-	NC_000011.10:g.75566435C>T	ExAC,TOPMed,gnomAD
RCV000343777	p.Gly31Ala	missense variant	-	NC_000011.10:g.75566441G>C	ClinVar
rs140588417	p.Gly31Ala	missense variant	-	NC_000011.10:g.75566441G>C	ESP,ExAC,TOPMed,gnomAD
RCV000387403	p.Gly31Ala	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566441G>C	ClinVar
rs1346770501	p.Thr32Ser	missense variant	-	NC_000011.10:g.75566444C>G	gnomAD
rs150061926	p.Ala33Pro	missense variant	-	NC_000011.10:g.75566446G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150061926	p.Ala33Ser	missense variant	-	NC_000011.10:g.75566446G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754791521	p.Ala33Val	missense variant	-	NC_000011.10:g.75566447C>T	ExAC,TOPMed,gnomAD
rs1243031165	p.Glu34Gln	missense variant	-	NC_000011.10:g.75566449G>C	TOPMed
rs752546581	p.Lys35Met	missense variant	-	NC_000011.10:g.75566453A>T	ExAC,TOPMed,gnomAD
rs1222845521	p.Pro38Ser	missense variant	-	NC_000011.10:g.75566461C>T	TOPMed
rs777133890	p.Lys39Thr	missense variant	-	NC_000011.10:g.75566465A>C	ExAC
rs1281239903	p.Ala40Val	missense variant	-	NC_000011.10:g.75566468C>T	gnomAD
rs781002791	p.Thr42Lys	missense variant	-	NC_000011.10:g.75566474C>A	ExAC,gnomAD
rs768929258	p.Leu43Phe	missense variant	-	NC_000011.10:g.75566476C>T	ExAC,TOPMed,gnomAD
rs768929258	p.Leu43Val	missense variant	-	NC_000011.10:g.75566476C>G	ExAC,TOPMed,gnomAD
rs995079770	p.Ala44Thr	missense variant	-	NC_000011.10:g.75566479G>A	-
rs1381440814	p.Ala44Gly	missense variant	-	NC_000011.10:g.75566480C>G	TOPMed
RCV000521163	p.Ser47Ile	missense variant	-	NC_000011.10:g.75566489_75566490delinsTT	ClinVar
rs1251272276	p.Ser47Gly	missense variant	-	NC_000011.10:g.75566488A>G	TOPMed,gnomAD
rs1555025879	p.Ser47Ile	missense variant	-	NC_000011.10:g.75566489_75566490delinsTT	-
rs1362402134	p.Gly49Val	missense variant	-	NC_000011.10:g.75566495G>T	TOPMed,gnomAD
rs772706450	p.Leu50Gln	missense variant	-	NC_000011.10:g.75566498T>A	ExAC,gnomAD
rs1392780279	p.Ala51Asp	missense variant	-	NC_000011.10:g.75566501C>A	gnomAD
rs1171329004	p.Ala51Thr	missense variant	-	NC_000011.10:g.75566500G>A	TOPMed,gnomAD
rs1435975435	p.Phe52Leu	missense variant	-	NC_000011.10:g.75566503T>C	TOPMed,gnomAD
rs773211240	p.Ser53Asn	missense variant	-	NC_000011.10:g.75566507G>A	ExAC,gnomAD
rs540061657	p.Leu54Val	missense variant	-	NC_000011.10:g.75566509T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1407839158	p.Leu54Phe	missense variant	-	NC_000011.10:g.75566511G>T	gnomAD
rs1330692923	p.Gln56Ter	stop gained	-	NC_000011.10:g.75566515C>T	gnomAD
rs553519612	p.Gln56Arg	missense variant	-	NC_000011.10:g.75566516A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs764918894	p.Met58Thr	missense variant	-	NC_000011.10:g.75566522T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala59Gly	missense variant	-	NC_000011.10:g.75566525C>G	NCI-TCGA
rs752594307	p.Lys60Glu	missense variant	-	NC_000011.10:g.75566527A>G	ExAC,gnomAD
rs758261919	p.Ala63Thr	missense variant	-	NC_000011.10:g.75566536G>A	ExAC,gnomAD
rs576480194	p.Ala63Glu	missense variant	-	NC_000011.10:g.75566537C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs576480194	p.Ala63Val	missense variant	-	NC_000011.10:g.75566537C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs780947787	p.Ile67Val	missense variant	-	NC_000011.10:g.75566548A>G	ExAC,gnomAD
rs755858302	p.Val69Leu	missense variant	-	NC_000011.10:g.75566554G>C	ExAC,TOPMed,gnomAD
rs1455213836	p.Ser70Pro	missense variant	-	NC_000011.10:g.75566557T>C	gnomAD
rs779144412	p.Pro71Ser	missense variant	-	NC_000011.10:g.75566560C>T	ExAC,TOPMed,gnomAD
rs779144412	p.Pro71Ala	missense variant	-	NC_000011.10:g.75566560C>G	ExAC,TOPMed,gnomAD
rs868134687	p.Val72Met	missense variant	-	NC_000011.10:g.75566563G>A	gnomAD
rs868134687	p.Val72Leu	missense variant	-	NC_000011.10:g.75566563G>T	gnomAD
rs1404479835	p.Val74Leu	missense variant	-	NC_000011.10:g.75566569G>T	gnomAD
rs1452549591	p.Ala75Val	missense variant	-	NC_000011.10:g.75566573C>T	TOPMed
rs376824871	p.Ser76Trp	missense variant	-	NC_000011.10:g.75566576C>G	ESP,ExAC,TOPMed,gnomAD
rs376824871	p.Ser76Leu	missense variant	-	NC_000011.10:g.75566576C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser77Leu	missense variant	-	NC_000011.10:g.75566579C>T	NCI-TCGA
RCV000023052	p.Leu78Pro	missense variant	Osteogenesis imperfecta type 10 (OI10)	NC_000011.10:g.75566582T>C	ClinVar
rs137853892	p.Leu78Pro	missense variant	Osteogenesis imperfecta 10 (OI10)	NC_000011.10:g.75566582T>C	UniProt,dbSNP
VAR_063602	p.Leu78Pro	missense variant	Osteogenesis imperfecta 10 (OI10)	NC_000011.10:g.75566582T>C	UniProt
rs137853892	p.Leu78Pro	missense variant	-	NC_000011.10:g.75566582T>C	-
rs765561870	p.Gly79Trp	missense variant	-	NC_000011.10:g.75566584G>T	ExAC,gnomAD
rs1246483844	p.Val81Met	missense variant	-	NC_000011.10:g.75566590G>A	TOPMed,gnomAD
rs1246483844	p.Val81Leu	missense variant	-	NC_000011.10:g.75566590G>C	TOPMed,gnomAD
rs1275419791	p.Ser82Leu	missense variant	-	NC_000011.10:g.75566594C>T	gnomAD
rs751575798	p.Ser82Ala	missense variant	-	NC_000011.10:g.75566593T>G	ExAC,gnomAD
rs1208647821	p.Gly85Ser	missense variant	-	NC_000011.10:g.75566602G>A	gnomAD
rs1208647821	p.Gly85Cys	missense variant	-	NC_000011.10:g.75566602G>T	gnomAD
rs1260506914	p.Gly85Asp	missense variant	-	NC_000011.10:g.75566603G>A	gnomAD
rs913843138	p.Ala87Val	missense variant	-	NC_000011.10:g.75566609C>T	gnomAD
rs1373248815	p.Thr88Ile	missense variant	-	NC_000011.10:g.75566612C>T	gnomAD
rs1419722597	p.Thr89Arg	missense variant	-	NC_000011.10:g.75566615C>G	TOPMed,gnomAD
rs1419722597	p.Thr89Met	missense variant	-	NC_000011.10:g.75566615C>T	TOPMed,gnomAD
COSM931998	p.Ala90Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.75566617G>A	NCI-TCGA Cosmic
rs750020039	p.Ser91Leu	missense variant	-	NC_000011.10:g.75566621C>T	ExAC,TOPMed,gnomAD
rs1319259821	p.Ala93Ser	missense variant	-	NC_000011.10:g.75566626G>T	gnomAD
rs1340041209	p.Ala95Thr	missense variant	-	NC_000011.10:g.75566632G>A	gnomAD
rs541595707	p.Ser98Asn	missense variant	-	NC_000011.10:g.75566642G>A	1000Genomes,ExAC,gnomAD
rs771330167	p.Ala99Thr	missense variant	-	NC_000011.10:g.75566644G>A	gnomAD
rs748414210	p.Ala99Gly	missense variant	-	NC_000011.10:g.75566645C>G	ExAC,TOPMed
rs1477630216	p.Glu100Asp	missense variant	-	NC_000011.10:g.75566649G>C	gnomAD
rs749665611	p.Glu100Gln	missense variant	-	NC_000011.10:g.75566647G>C	ExAC,TOPMed,gnomAD
rs749665611	p.Glu100Lys	missense variant	-	NC_000011.10:g.75566647G>A	ExAC,TOPMed,gnomAD
RCV000403806	p.Glu100Lys	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566647G>A	ClinVar
rs747493825	p.Gln101Arg	missense variant	-	NC_000011.10:g.75566651A>G	ExAC,gnomAD
rs377583721	p.Leu102Gln	missense variant	-	NC_000011.10:g.75566654T>A	ESP,ExAC,gnomAD
rs369290752	p.Arg103Cys	missense variant	-	NC_000011.10:g.75566656C>T	ESP,TOPMed,gnomAD
rs1485163348	p.Arg103His	missense variant	-	NC_000011.10:g.75566657G>A	gnomAD
rs1259422392	p.Asp104Asn	missense variant	-	NC_000011.10:g.75566659G>A	gnomAD
rs1041020879	p.Glu105Gly	missense variant	-	NC_000011.10:g.75566663A>G	TOPMed
rs376810317	p.Glu105Gln	missense variant	-	NC_000011.10:g.75566662G>C	TOPMed,gnomAD
rs376810317	p.Glu105Lys	missense variant	-	NC_000011.10:g.75566662G>A	TOPMed,gnomAD
rs561786753	p.Glu106Asp	missense variant	-	NC_000011.10:g.75566667G>C	1000Genomes,gnomAD
rs1272147228	p.Glu106Ter	stop gained	-	NC_000011.10:g.75566665G>T	TOPMed
rs1219793193	p.Glu106Val	missense variant	-	NC_000011.10:g.75566666A>T	TOPMed
NCI-TCGA novel	p.Glu106Lys	missense variant	-	NC_000011.10:g.75566665G>A	NCI-TCGA
rs745963767	p.Val107Met	missense variant	-	NC_000011.10:g.75566668G>A	ExAC,gnomAD
rs745963767	p.Val107Leu	missense variant	-	NC_000011.10:g.75566668G>T	ExAC,gnomAD
rs1159264267	p.His108Arg	missense variant	-	NC_000011.10:g.75566672A>G	gnomAD
rs1374924761	p.His108Gln	missense variant	-	NC_000011.10:g.75566673C>A	gnomAD
rs148959638	p.Ala109Gly	missense variant	-	NC_000011.10:g.75566675C>G	ESP,ExAC,TOPMed,gnomAD
rs1356511928	p.Gly110Asp	missense variant	-	NC_000011.10:g.75566678G>A	gnomAD
rs527346653	p.Leu111Met	missense variant	-	NC_000011.10:g.75566680C>A	1000Genomes
rs1403321240	p.Glu113Ala	missense variant	-	NC_000011.10:g.75566687A>C	TOPMed
rs763945752	p.Glu113Asp	missense variant	-	NC_000011.10:g.75566688G>C	ExAC,gnomAD
rs1208295704	p.Leu115Gln	missense variant	-	NC_000011.10:g.75566693T>A	gnomAD
rs755675475	p.Arg116His	missense variant	-	NC_000011.10:g.75566696G>A	ExAC,TOPMed
rs755675475	p.Arg116Leu	missense variant	-	NC_000011.10:g.75566696G>T	ExAC,TOPMed
RCV000344667	p.Arg116Ser	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566695C>A	ClinVar
rs200265134	p.Arg116Cys	missense variant	-	NC_000011.10:g.75566695C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200265134	p.Arg116Ser	missense variant	-	NC_000011.10:g.75566695C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs571009837	p.Ser117Ter	stop gained	-	NC_000011.10:g.75566699C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs571009837	p.Ser117Leu	missense variant	-	NC_000011.10:g.75566699C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs778098631	p.Leu118Ile	missense variant	-	NC_000011.10:g.75566701C>A	ExAC
rs893319673	p.Ser119Thr	missense variant	-	NC_000011.10:g.75566705G>C	TOPMed
rs751987057	p.Ser119Gly	missense variant	-	NC_000011.10:g.75566704A>G	ExAC
rs1420882595	p.Asn120ThrTerUnk	stop gained	-	NC_000011.10:g.75566707_75566708insCGTGA	gnomAD
rs757694413	p.Asn120Ser	missense variant	-	NC_000011.10:g.75566708A>G	ExAC,TOPMed,gnomAD
rs1175794090	p.Ser121Phe	missense variant	-	NC_000011.10:g.75566711C>T	gnomAD
rs781727997	p.Ser121Ala	missense variant	-	NC_000011.10:g.75566710T>G	ExAC,gnomAD
rs769945594	p.Thr122Met	missense variant	-	NC_000011.10:g.75566714C>T	ExAC,TOPMed,gnomAD
rs749500041	p.Ala123Ser	missense variant	-	NC_000011.10:g.75566716G>T	ExAC,TOPMed,gnomAD
rs769054443	p.Ala123Val	missense variant	-	NC_000011.10:g.75566717C>T	ExAC,TOPMed,gnomAD
rs769054443	p.Ala123Glu	missense variant	-	NC_000011.10:g.75566717C>A	ExAC,TOPMed,gnomAD
rs761716222	p.Arg124Pro	missense variant	-	NC_000011.10:g.75566720G>C	ExAC,TOPMed,gnomAD
rs761716222	p.Arg124Leu	missense variant	-	NC_000011.10:g.75566720G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg124GlnPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.75566716_75566717GC>-	NCI-TCGA
rs1313938366	p.Asn125Ser	missense variant	-	NC_000011.10:g.75566723A>G	TOPMed
rs772088561	p.Asn125Lys	missense variant	-	NC_000011.10:g.75566724C>G	ExAC,TOPMed,gnomAD
COSM932000	p.Val126Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.75566725G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg133Gln	missense variant	-	NC_000011.10:g.75566747G>A	NCI-TCGA
rs753347871	p.Arg133Ter	stop gained	-	NC_000011.10:g.75566746C>T	ExAC,gnomAD
rs1196316160	p.Leu134Pro	missense variant	-	NC_000011.10:g.75566750T>C	TOPMed,gnomAD
rs1036013353	p.Tyr135Ter	stop gained	-	NC_000011.10:g.75566754C>G	TOPMed
rs759183941	p.Gly136Arg	missense variant	-	NC_000011.10:g.75566755G>C	ExAC,TOPMed,gnomAD
rs759183941	p.Gly136Arg	missense variant	-	NC_000011.10:g.75566755G>A	ExAC,TOPMed,gnomAD
rs764873239	p.Pro137Ala	missense variant	-	NC_000011.10:g.75566758C>G	ExAC,TOPMed,gnomAD
rs1395736008	p.Pro137Leu	missense variant	-	NC_000011.10:g.75566759C>T	gnomAD
rs751862278	p.Ser138Arg	missense variant	-	NC_000011.10:g.75566763C>A	ExAC,gnomAD
rs757639350	p.Ser139Leu	missense variant	-	NC_000011.10:g.75566765C>T	ExAC,gnomAD
rs148088085	p.Val140Leu	missense variant	-	NC_000011.10:g.75566767G>C	ESP
rs371660937	p.Phe142Leu	missense variant	-	NC_000011.10:g.75566775C>G	ESP,ExAC,TOPMed,gnomAD
rs781508942	p.Phe142Leu	missense variant	-	NC_000011.10:g.75566773T>C	ExAC,gnomAD
rs1325858555	p.Ala143Thr	missense variant	-	NC_000011.10:g.75566776G>A	gnomAD
rs1392852377	p.Asp144Gly	missense variant	-	NC_000011.10:g.75566780A>G	gnomAD
rs756623619	p.Asp145Glu	missense variant	-	NC_000011.10:g.75566784C>A	ExAC,gnomAD
rs1443721076	p.Asp145Asn	missense variant	-	NC_000011.10:g.75566782G>A	gnomAD
rs972547822	p.Phe146Leu	missense variant	-	NC_000011.10:g.75566785T>C	TOPMed
NCI-TCGA novel	p.Val147Glu	missense variant	-	NC_000011.10:g.75566789T>A	NCI-TCGA
rs61736330	p.Arg148Ser	missense variant	-	NC_000011.10:g.75566791C>A	gnomAD
rs61736330	p.Arg148Cys	missense variant	-	NC_000011.10:g.75566791C>T	gnomAD
rs1266438725	p.Arg148His	missense variant	-	NC_000011.10:g.75566792G>A	gnomAD
rs780165606	p.Ser149Gly	missense variant	-	NC_000011.10:g.75566794A>G	ExAC,gnomAD
rs749386696	p.Lys151Arg	missense variant	-	NC_000011.10:g.75566801A>G	ExAC,gnomAD
rs768946201	p.Gln152Arg	missense variant	-	NC_000011.10:g.75566804A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His153Gln	missense variant	-	NC_000011.10:g.75566808C>A	NCI-TCGA
rs1467115947	p.His153Gln	missense variant	-	NC_000011.10:g.75566808C>G	gnomAD
rs1272289174	p.His153Asn	missense variant	-	NC_000011.10:g.75566806C>A	gnomAD
NCI-TCGA novel	p.His153Tyr	missense variant	-	NC_000011.10:g.75566806C>T	NCI-TCGA
rs747915459	p.Asn155Ser	missense variant	-	NC_000011.10:g.75566813A>G	ExAC,TOPMed,gnomAD
rs1485550302	p.Cys156Trp	missense variant	-	NC_000011.10:g.75566817C>G	gnomAD
rs1417004600	p.Glu157Gly	missense variant	-	NC_000011.10:g.75566819A>G	TOPMed
rs1011028573	p.Glu157Lys	missense variant	-	NC_000011.10:g.75566818G>A	TOPMed,gnomAD
rs1011028573	p.Glu157Gln	missense variant	-	NC_000011.10:g.75566818G>C	TOPMed,gnomAD
NCI-TCGA novel	p.His158Pro	missense variant	-	NC_000011.10:g.75566822A>C	NCI-TCGA
rs771963597	p.Ser159Phe	missense variant	-	NC_000011.10:g.75566825C>T	ExAC,TOPMed,gnomAD
rs1429500698	p.Lys160Arg	missense variant	-	NC_000011.10:g.75566828A>G	TOPMed,gnomAD
RCV000309167	p.Lys160Asn	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566829G>C	ClinVar
rs886048661	p.Lys160Asn	missense variant	-	NC_000011.10:g.75566829G>C	TOPMed
RCV000359789	p.Ile161Leu	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566830A>C	ClinVar
rs112083274	p.Ile161Leu	missense variant	-	NC_000011.10:g.75566830A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs760648204	p.Asn162Ser	missense variant	-	NC_000011.10:g.75566834A>G	ExAC,TOPMed,gnomAD
rs770842307	p.Asn162Lys	missense variant	-	NC_000011.10:g.75566835C>G	ExAC,TOPMed,gnomAD
RCV000402192	p.Asn162Lys	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566835C>G	ClinVar
rs776140347	p.Arg164Cys	missense variant	-	NC_000011.10:g.75566839C>T	ExAC,TOPMed,gnomAD
COSM2018052	p.Asp165Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.75566842G>A	NCI-TCGA Cosmic
rs762631686	p.Arg167His	missense variant	-	NC_000011.10:g.75566849G>A	ExAC,gnomAD
rs764819709	p.Arg167Ser	missense variant	-	NC_000011.10:g.75566848C>A	ExAC,gnomAD
rs764819709	p.Arg167Cys	missense variant	-	NC_000011.10:g.75566848C>T	ExAC,gnomAD
rs750807661	p.Ala169Val	missense variant	-	NC_000011.10:g.75566855C>T	ExAC,TOPMed,gnomAD
rs767898808	p.Ala169Thr	missense variant	-	NC_000011.10:g.75566854G>A	ExAC,gnomAD
rs1290424266	p.Gln171Ter	stop gained	-	NC_000011.10:g.75566860C>T	gnomAD
NCI-TCGA novel	p.Gln171Leu	missense variant	-	NC_000011.10:g.75566861A>T	NCI-TCGA
rs1018770051	p.Asn174Lys	missense variant	-	NC_000011.10:g.75566871C>A	TOPMed,gnomAD
rs766813083	p.Glu175Ter	stop gained	-	NC_000011.10:g.75566872G>T	ExAC,TOPMed,gnomAD
rs766813083	p.Glu175Gln	missense variant	-	NC_000011.10:g.75566872G>C	ExAC,TOPMed,gnomAD
rs766813083	p.Glu175Lys	missense variant	-	NC_000011.10:g.75566872G>A	ExAC,TOPMed,gnomAD
rs753922805	p.Ala178Thr	missense variant	-	NC_000011.10:g.75566881G>A	ExAC,gnomAD
rs753922805	p.Ala178Ser	missense variant	-	NC_000011.10:g.75566881G>T	ExAC,gnomAD
rs755143041	p.Ala178Val	missense variant	-	NC_000011.10:g.75566882C>T	ExAC,TOPMed,gnomAD
rs758606932	p.Gly183Ser	missense variant	-	NC_000011.10:g.75566896G>A	ExAC,TOPMed,gnomAD
rs1156365701	p.Gly183Asp	missense variant	-	NC_000011.10:g.75566897G>A	gnomAD
rs758606932	p.Gly183Arg	missense variant	-	NC_000011.10:g.75566896G>C	ExAC,TOPMed,gnomAD
rs1346453724	p.Lys184Asn	missense variant	-	NC_000011.10:g.75566901G>T	gnomAD
RCV000506069	p.Thr189Ala	missense variant	-	NC_000011.10:g.75566914A>G	ClinVar
rs1416351184	p.Thr189Ser	missense variant	-	NC_000011.10:g.75566915C>G	gnomAD
rs138784081	p.Thr189Ser	missense variant	-	NC_000011.10:g.75566914A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138784081	p.Thr189Ala	missense variant	-	NC_000011.10:g.75566914A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1389377935	p.Lys190Met	missense variant	-	NC_000011.10:g.75566918A>T	gnomAD
NCI-TCGA novel	p.Asp191His	missense variant	-	NC_000011.10:g.75566920G>C	NCI-TCGA
rs1221970463	p.Asp191Gly	missense variant	-	NC_000011.10:g.75566921A>G	gnomAD
rs745340617	p.Asp191Glu	missense variant	-	NC_000011.10:g.75566922C>A	ExAC,TOPMed,gnomAD
rs1349927093	p.Asp191Asn	missense variant	-	NC_000011.10:g.75566920G>A	gnomAD
RCV000360883	p.Asp191Glu	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566922C>A	ClinVar
rs769259507	p.Val192Gly	missense variant	-	NC_000011.10:g.75566924T>G	ExAC,gnomAD
rs769259507	p.Val192Ala	missense variant	-	NC_000011.10:g.75566924T>C	ExAC,gnomAD
RCV000175692	p.Glu193Asp	missense variant	-	NC_000011.10:g.75566928G>C	ClinVar
rs797044674	p.GluArg193AspSer	missense variant	-	NC_000011.10:g.75566928_75566929delinsCA	-
rs775027601	p.Glu193Ala	missense variant	-	NC_000011.10:g.75566927A>C	ExAC,TOPMed,gnomAD
rs559687602	p.Glu193Asp	missense variant	-	NC_000011.10:g.75566928G>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000175689	p.Glu193AspSer	missense variant	-	NC_000011.10:g.75566928_75566929delinsCA	ClinVar
rs141721173	p.Arg194Ser	missense variant	-	NC_000011.10:g.75566929C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000175693	p.Arg194Ser	missense variant	-	NC_000011.10:g.75566929C>A	ClinVar
RCV000763776	p.Arg194Ser	missense variant	Preterm premature rupture of membranes (PPROM)	NC_000011.10:g.75566929C>A	ClinVar
rs141721173	p.Arg194Cys	missense variant	-	NC_000011.10:g.75566929C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000261310	p.Arg194Ser	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566929C>A	ClinVar
COSM3967837	p.Thr195Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.75566933C>T	NCI-TCGA Cosmic
rs1232634716	p.Asp196Glu	missense variant	-	NC_000011.10:g.75566937C>A	gnomAD
rs766872022	p.Gly197Arg	missense variant	-	NC_000011.10:g.75566938G>C	ExAC,gnomAD
rs766872022	p.Gly197Cys	missense variant	-	NC_000011.10:g.75566938G>T	ExAC,gnomAD
rs755592285	p.Gly197Val	missense variant	-	NC_000011.10:g.75566939G>T	ExAC,gnomAD
rs908092360	p.Ala198Thr	missense variant	-	NC_000011.10:g.75566941G>A	gnomAD
rs1245712905	p.Asn202Lys	missense variant	-	NC_000011.10:g.75566955C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Met204Val	missense variant	-	NC_000011.10:g.75566959A>G	NCI-TCGA
rs777869458	p.Phe205Val	missense variant	-	NC_000011.10:g.75566962T>G	ExAC,gnomAD
rs1377787259	p.Phe206Leu	missense variant	-	NC_000011.10:g.75566967C>A	gnomAD
rs746767763	p.Pro208Ser	missense variant	-	NC_000011.10:g.75566971C>T	ExAC,gnomAD
rs569867446	p.His209Gln	missense variant	-	NC_000011.10:g.75568735C>G	1000Genomes,ExAC,gnomAD
rs755976024	p.His209Tyr	missense variant	-	NC_000011.10:g.75568733C>T	ExAC,gnomAD
rs1300712632	p.His216Pro	missense variant	-	NC_000011.10:g.75568755A>C	TOPMed
rs1323744768	p.Lys217Asn	missense variant	-	NC_000011.10:g.75568759G>T	TOPMed,gnomAD
rs1396795405	p.Met218Val	missense variant	-	NC_000011.10:g.75568760A>G	TOPMed,gnomAD
rs1387383541	p.Val219Met	missense variant	-	NC_000011.10:g.75568763G>A	gnomAD
rs1159867029	p.Val219Ala	missense variant	-	NC_000011.10:g.75568764T>C	TOPMed
rs778537327	p.Asn221Asp	missense variant	-	NC_000011.10:g.75568769A>G	ExAC,gnomAD
rs778537327	p.Asn221Tyr	missense variant	-	NC_000011.10:g.75568769A>T	ExAC,gnomAD
rs747743316	p.Arg222Cys	missense variant	-	NC_000011.10:g.75568772C>T	ExAC,gnomAD
rs771916875	p.Arg222His	missense variant	-	NC_000011.10:g.75568773G>A	ExAC,gnomAD
rs747743316	p.Arg222Ser	missense variant	-	NC_000011.10:g.75568772C>A	ExAC,gnomAD
rs928526391	p.Met225Val	missense variant	-	NC_000011.10:g.75568781A>G	TOPMed,gnomAD
rs1275556617	p.Val226Met	missense variant	-	NC_000011.10:g.75568784G>A	TOPMed,gnomAD
rs759994312	p.Arg228Gln	missense variant	-	NC_000011.10:g.75568791G>A	ExAC,TOPMed,gnomAD
rs759994312	p.Arg228Pro	missense variant	-	NC_000011.10:g.75568791G>C	ExAC,TOPMed,gnomAD
COSM3453362	p.Ser229Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.75568794C>T	NCI-TCGA Cosmic
rs1260400078	p.Tyr230Cys	missense variant	-	NC_000011.10:g.75568797A>G	TOPMed,gnomAD
rs1218823155	p.Thr231Ile	missense variant	-	NC_000011.10:g.75568800C>T	TOPMed
rs763555596	p.Val232Gly	missense variant	-	NC_000011.10:g.75568803T>G	ExAC,TOPMed,gnomAD
rs534696801	p.Val232Met	missense variant	-	NC_000011.10:g.75568802G>A	ExAC,gnomAD
rs1162741198	p.Gly233Asp	missense variant	-	NC_000011.10:g.75568806G>A	gnomAD
rs764058290	p.Met235Ile	missense variant	-	NC_000011.10:g.75568813G>T	ExAC,TOPMed,gnomAD
COSM4940625	p.Met235Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.75568812T>C	NCI-TCGA Cosmic
rs764058290	p.Met235Ile	missense variant	-	NC_000011.10:g.75568813G>C	ExAC,TOPMed,gnomAD
rs886039819	p.Met237Thr	missense variant	-	NC_000011.10:g.75568818T>C	-
rs1458326459	p.Met237Ile	missense variant	-	NC_000011.10:g.75568819G>A	gnomAD
RCV000256253	p.Met237Thr	missense variant	Osteogenesis imperfecta type 10 (OI10)	NC_000011.10:g.75568818T>C	ClinVar
rs761932276	p.His238Gln	missense variant	-	NC_000011.10:g.75568822C>A	ExAC,gnomAD
rs750157727	p.Arg239Leu	missense variant	-	NC_000011.10:g.75568824G>T	ExAC,TOPMed,gnomAD
rs767729275	p.Arg239Trp	missense variant	-	NC_000011.10:g.75568823C>T	ExAC,TOPMed,gnomAD
rs750157727	p.Arg239Gln	missense variant	-	NC_000011.10:g.75568824G>A	ExAC,TOPMed,gnomAD
RCV000376278	p.Arg239Leu	missense variant	-	NC_000011.10:g.75568824G>T	ClinVar
NCI-TCGA novel	p.Gly241Asp	missense variant	-	NC_000011.10:g.75568939G>A	NCI-TCGA
rs767688879	p.Gly241Val	missense variant	-	NC_000011.10:g.75568939G>T	ExAC,gnomAD
rs1195158034	p.Leu242Phe	missense variant	-	NC_000011.10:g.75568941C>T	gnomAD
rs773393677	p.Asn244Thr	missense variant	-	NC_000011.10:g.75568948A>C	ExAC,gnomAD
rs773393677	p.Asn244Ser	missense variant	-	NC_000011.10:g.75568948A>G	ExAC,gnomAD
rs753734711	p.Asp247Asn	missense variant	-	NC_000011.10:g.75568956G>A	ExAC,TOPMed,gnomAD
rs765236669	p.Asp248His	missense variant	-	NC_000011.10:g.75568959G>C	ExAC,TOPMed,gnomAD
rs765236669	p.Asp248Asn	missense variant	-	NC_000011.10:g.75568959G>A	ExAC,TOPMed,gnomAD
rs1296984761	p.Glu249Gln	missense variant	-	NC_000011.10:g.75568962G>C	TOPMed,gnomAD
rs542837557	p.Glu249Asp	missense variant	-	NC_000011.10:g.75568964G>C	1000Genomes
rs777463655	p.Glu249Gly	missense variant	-	NC_000011.10:g.75568963A>G	ExAC,TOPMed,gnomAD
rs1296984761	p.Glu249Lys	missense variant	-	NC_000011.10:g.75568962G>A	TOPMed,gnomAD
rs553118941	p.Glu251Lys	missense variant	-	NC_000011.10:g.75568968G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1331519111	p.Leu253Pro	missense variant	-	NC_000011.10:g.75568975T>C	gnomAD
rs757027235	p.Gln254Glu	missense variant	-	NC_000011.10:g.75568977C>G	ExAC,TOPMed,gnomAD
rs749664592	p.Val256Met	missense variant	-	NC_000011.10:g.75568983G>A	ExAC,gnomAD
rs1015978540	p.Glu257Asp	missense variant	-	NC_000011.10:g.75568988G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Glu257Ter	stop gained	-	NC_000011.10:g.75568986G>T	NCI-TCGA
rs1249374274	p.Met258Ile	missense variant	-	NC_000011.10:g.75568991G>A	gnomAD
rs1459090987	p.Pro259Thr	missense variant	-	NC_000011.10:g.75568992C>A	gnomAD
rs768984519	p.Pro259Leu	missense variant	-	NC_000011.10:g.75568993C>T	ExAC,TOPMed,gnomAD
rs774942194	p.Leu260Val	missense variant	-	NC_000011.10:g.75568995C>G	ExAC,TOPMed,gnomAD
rs201644679	p.Ala261Gly	missense variant	-	NC_000011.10:g.75568999C>G	1000Genomes,TOPMed
rs748697715	p.Ala261Thr	missense variant	-	NC_000011.10:g.75568998G>A	ExAC,TOPMed,gnomAD
rs1302597191	p.Leu264Phe	missense variant	-	NC_000011.10:g.75569007C>T	gnomAD
rs1426078525	p.Ser265Pro	missense variant	-	NC_000011.10:g.75569010T>C	gnomAD
rs772119590	p.Ser266Thr	missense variant	-	NC_000011.10:g.75569014G>C	ExAC,gnomAD
rs887118799	p.Ile268Thr	missense variant	-	NC_000011.10:g.75569020T>C	TOPMed
rs199679249	p.Val275Met	missense variant	-	NC_000011.10:g.75569040G>A	ExAC,TOPMed,gnomAD
RCV000326079	p.Val275Met	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75569040G>A	ClinVar
rs199679249	p.Val275Leu	missense variant	-	NC_000011.10:g.75569040G>T	ExAC,TOPMed,gnomAD
RCV000757757	p.Glu276Ala	missense variant	-	NC_000011.10:g.75569044A>C	ClinVar
rs148613550	p.Glu276Ala	missense variant	-	NC_000011.10:g.75569044A>C	ExAC,TOPMed,gnomAD
rs776233451	p.Glu276Lys	missense variant	-	NC_000011.10:g.75569043G>A	ExAC,gnomAD
rs1276134932	p.Pro277His	missense variant	-	NC_000011.10:g.75569047C>A	gnomAD
rs765044030	p.Pro277Thr	missense variant	-	NC_000011.10:g.75569046C>A	ExAC,gnomAD
rs758458147	p.Glu279Lys	missense variant	-	NC_000011.10:g.75569052G>A	ExAC,TOPMed,gnomAD
rs758458147	p.Glu279Gln	missense variant	-	NC_000011.10:g.75569052G>C	ExAC,TOPMed,gnomAD
rs200572997	p.Arg280Cys	missense variant	-	NC_000011.10:g.75569055C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200572997	p.Arg280Ser	missense variant	-	NC_000011.10:g.75569055C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs370057420	p.Arg280His	missense variant	-	NC_000011.10:g.75569056G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1379043592	p.Leu281Phe	missense variant	-	NC_000011.10:g.75569058C>T	TOPMed
NCI-TCGA novel	p.Leu281Ile	missense variant	-	NC_000011.10:g.75569058C>A	NCI-TCGA
rs755341831	p.Glu282Lys	missense variant	-	NC_000011.10:g.75569061G>A	ExAC
rs1265806916	p.Lys287Glu	missense variant	-	NC_000011.10:g.75569076A>G	gnomAD
rs1265806916	p.Lys287Gln	missense variant	-	NC_000011.10:g.75569076A>C	gnomAD
rs369751579	p.Glu288Lys	missense variant	-	NC_000011.10:g.75569079G>A	ExAC,gnomAD
NCI-TCGA novel	p.Lys291Asn	missense variant	-	NC_000011.10:g.75569090G>T	NCI-TCGA
rs771012011	p.Ile292Met	missense variant	-	NC_000011.10:g.75569093C>G	ExAC,gnomAD
rs776944994	p.Trp293Arg	missense variant	-	NC_000011.10:g.75569094T>C	ExAC,TOPMed
rs759715144	p.Met294Ile	missense variant	-	NC_000011.10:g.75569099G>A	ExAC,gnomAD
rs1452624175	p.Gly295Arg	missense variant	-	NC_000011.10:g.75569100G>A	TOPMed,gnomAD
rs1452624175	p.Gly295Arg	missense variant	-	NC_000011.10:g.75569100G>C	TOPMed,gnomAD
rs200106884	p.Met297Ile	missense variant	-	NC_000011.10:g.75569108G>A	1000Genomes,ExAC,gnomAD
rs200106884	p.Met297Ile	missense variant	-	NC_000011.10:g.75569108G>T	1000Genomes,ExAC,gnomAD
rs1173430313	p.Lys300Arg	missense variant	-	NC_000011.10:g.75569116A>G	TOPMed
rs764127543	p.Ala301Gly	missense variant	-	NC_000011.10:g.75569119C>G	ExAC,gnomAD
rs751052033	p.Ala303Thr	missense variant	-	NC_000011.10:g.75569124G>A	ExAC,gnomAD
rs767034212	p.Ser305Cys	missense variant	-	NC_000011.10:g.75569131C>G	ExAC,gnomAD
rs549207386	p.Ser305Pro	missense variant	-	NC_000011.10:g.75569130T>C	1000Genomes,ExAC,gnomAD
RCV000778338	p.Leu306Ter	frameshift	Osteogenesis imperfecta type 10 (OI10)	NC_000011.10:g.75569135del	ClinVar
NCI-TCGA novel	p.Lys308Glu	missense variant	-	NC_000011.10:g.75569139A>G	NCI-TCGA
rs142663000	p.Lys308Arg	missense variant	-	NC_000011.10:g.75569140A>G	ESP,ExAC,TOPMed,gnomAD
rs779248122	p.Gly309Cys	missense variant	-	NC_000011.10:g.75569142G>T	ExAC,gnomAD
rs753068848	p.Gly309Val	missense variant	-	NC_000011.10:g.75569143G>T	ExAC,TOPMed,gnomAD
rs753068848	p.Gly309Asp	missense variant	-	NC_000011.10:g.75569143G>A	ExAC,TOPMed,gnomAD
rs1474093032	p.Val311Leu	missense variant	-	NC_000011.10:g.75569148G>T	gnomAD
rs1413894809	p.Glu312Lys	missense variant	-	NC_000011.10:g.75569151G>A	gnomAD
rs747053861	p.Thr314Ile	missense variant	-	NC_000011.10:g.75569158C>T	ExAC,gnomAD
rs1440784485	p.Gln318Ter	stop gained	-	NC_000011.10:g.75569169C>T	TOPMed
COSM932003	p.Leu321Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.75571788T>C	NCI-TCGA Cosmic
RCV000343835	p.Leu321Ter	frameshift	-	NC_000011.10:g.75571787del	ClinVar
rs781326376	p.Ala322Thr	missense variant	-	NC_000011.10:g.75571790G>A	ExAC,gnomAD
rs144791057	p.Gly323Glu	missense variant	-	NC_000011.10:g.75571794G>A	ESP,ExAC,TOPMed,gnomAD
rs1437455313	p.Leu324Met	missense variant	-	NC_000011.10:g.75571796C>A	gnomAD
NCI-TCGA novel	p.Leu326Arg	missense variant	-	NC_000011.10:g.75571803T>G	NCI-TCGA
rs1270038150	p.Leu326Val	missense variant	-	NC_000011.10:g.75571802C>G	gnomAD
rs780442561	p.Thr327Ala	missense variant	-	NC_000011.10:g.75571805A>G	ExAC,gnomAD
rs749048421	p.Glu328Lys	missense variant	-	NC_000011.10:g.75571808G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala329Thr	missense variant	-	NC_000011.10:g.75571811G>A	NCI-TCGA
COSM3453365	p.Ile330Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.75571814A>G	NCI-TCGA Cosmic
rs774348484	p.Asp331Glu	missense variant	-	NC_000011.10:g.75571819C>A	ExAC,gnomAD
rs1208775353	p.Lys332Glu	missense variant	-	NC_000011.10:g.75571820A>G	gnomAD
rs147936395	p.Lys332Asn	missense variant	-	NC_000011.10:g.75571822G>C	ESP,TOPMed,gnomAD
rs771911618	p.Asp336Asn	missense variant	-	NC_000011.10:g.75571832G>A	ExAC,TOPMed,gnomAD
rs995057062	p.Ser338Pro	missense variant	-	NC_000011.10:g.75571838T>C	TOPMed
RCV000346063	p.Arg339His	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75571842G>A	ClinVar
rs760125834	p.Arg339Cys	missense variant	-	NC_000011.10:g.75571841C>T	ExAC,TOPMed,gnomAD
rs535510332	p.Arg339His	missense variant	-	NC_000011.10:g.75571842G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs535510332	p.Arg339Leu	missense variant	-	NC_000011.10:g.75571842G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs899357876	p.Met340Val	missense variant	-	NC_000011.10:g.75571844A>G	TOPMed,gnomAD
rs201416803	p.Met340Ile	missense variant	-	NC_000011.10:g.75571846G>A	ExAC,TOPMed,gnomAD
COSM4403879	p.Lys343Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.75571854A>C	NCI-TCGA Cosmic
rs757716271	p.Leu348Val	missense variant	-	NC_000011.10:g.75571868C>G	ExAC,gnomAD
rs1317813949	p.Ala349Asp	missense variant	-	NC_000011.10:g.75571872C>A	gnomAD
rs150431930	p.Ser350Thr	missense variant	-	NC_000011.10:g.75571875G>C	ESP,ExAC,TOPMed,gnomAD
rs368336245	p.Val351Met	missense variant	-	NC_000011.10:g.75571877G>A	ESP,ExAC,TOPMed,gnomAD
RCV000178839	p.Val351Met	missense variant	-	NC_000011.10:g.75571877G>A	ClinVar
rs1355427520	p.Phe352Tyr	missense variant	-	NC_000011.10:g.75571881T>A	gnomAD
rs780318111	p.His353Arg	missense variant	-	NC_000011.10:g.75571884A>G	ExAC,gnomAD
COSM1357004	p.His353Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.75571883C>A	NCI-TCGA Cosmic
rs1210096447	p.Ala354Val	missense variant	-	NC_000011.10:g.75571887C>T	TOPMed,gnomAD
rs369550626	p.Ala354Thr	missense variant	-	NC_000011.10:g.75571886G>A	ESP,ExAC,gnomAD
rs1210096447	p.Ala354Gly	missense variant	-	NC_000011.10:g.75571887C>G	TOPMed,gnomAD
rs747912977	p.Ala356Thr	missense variant	-	NC_000011.10:g.75571892G>A	ExAC,gnomAD
COSM1298620	p.Glu358Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.75571898G>C	NCI-TCGA Cosmic
rs771997683	p.Leu359Phe	missense variant	-	NC_000011.10:g.75571903G>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp360Gly	missense variant	-	NC_000011.10:g.75571905A>G	NCI-TCGA
rs1202285973	p.Asp362His	missense variant	-	NC_000011.10:g.75571910G>C	TOPMed
rs1268337790	p.Asp362Glu	missense variant	-	NC_000011.10:g.75571912T>A	gnomAD
rs1263626738	p.Asn364Lys	missense variant	-	NC_000011.10:g.75571918C>G	TOPMed,gnomAD
rs574281910	p.Pro365Leu	missense variant	-	NC_000011.10:g.75571920C>T	1000Genomes,ExAC,gnomAD
rs747009311	p.Phe366Ser	missense variant	-	NC_000011.10:g.75571923T>C	ExAC,gnomAD
COSM3967838	p.Gln368Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.75571928C>T	NCI-TCGA Cosmic
rs758312076	p.Ile370Thr	missense variant	-	NC_000011.10:g.75571935T>C	ExAC,TOPMed,gnomAD
rs200180052	p.Gly372Arg	missense variant	-	NC_000011.10:g.75571940G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM690662	p.Arg373Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.75571944G>C	NCI-TCGA Cosmic
rs774719472	p.Arg373His	missense variant	-	NC_000011.10:g.75571944G>A	ExAC,TOPMed,gnomAD
rs764873155	p.Arg373Cys	missense variant	-	NC_000011.10:g.75571943C>T	ExAC,TOPMed,gnomAD
rs768025277	p.Glu374Lys	missense variant	-	NC_000011.10:g.75571946G>A	ExAC,TOPMed,gnomAD
rs750860974	p.Glu374Asp	missense variant	-	NC_000011.10:g.75571948G>C	ExAC,gnomAD
rs577035420	p.Glu375Ter	stop gained	-	NC_000011.10:g.75571949G>T	1000Genomes,ExAC,gnomAD
rs545800102	p.Glu375Val	missense variant	-	NC_000011.10:g.75571950A>T	1000Genomes,ExAC,gnomAD
rs577035420	p.Glu375Lys	missense variant	-	NC_000011.10:g.75571949G>A	1000Genomes,ExAC,gnomAD
rs562306544	p.Glu375Asp	missense variant	-	NC_000011.10:g.75571951G>T	1000Genomes,ExAC,gnomAD
rs779029499	p.Arg377His	missense variant	-	NC_000011.10:g.75571956G>A	ExAC,gnomAD
rs576211302	p.Arg377Cys	missense variant	-	NC_000011.10:g.75571955C>T	1000Genomes,ExAC,gnomAD
rs935830138	p.Lys380Gln	missense variant	-	NC_000011.10:g.75571964A>C	TOPMed,gnomAD
rs758098270	p.Lys380Arg	missense variant	-	NC_000011.10:g.75571965A>G	ExAC,TOPMed
rs1258116556	p.Leu381Val	missense variant	-	NC_000011.10:g.75571967C>G	gnomAD
COSM932005	p.Phe382Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.75571972C>A	NCI-TCGA Cosmic
rs746933828	p.Tyr383Asn	missense variant	-	NC_000011.10:g.75571973T>A	ExAC,gnomAD
rs200974428	p.Ala384Thr	missense variant	-	NC_000011.10:g.75571976G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro387Ser	missense variant	-	NC_000011.10:g.75571985C>T	NCI-TCGA
rs775032765	p.Ile389Val	missense variant	-	NC_000011.10:g.75571991A>G	ExAC,gnomAD
rs1251965369	p.Leu391Pro	missense variant	-	NC_000011.10:g.75571998T>C	TOPMed
rs1403593010	p.Leu391Val	missense variant	-	NC_000011.10:g.75571997C>G	gnomAD
rs527863136	p.Arg393Trp	missense variant	-	NC_000011.10:g.75572003C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs772299825	p.Arg393Gln	missense variant	-	NC_000011.10:g.75572004G>A	ExAC,TOPMed,gnomAD
rs1448534764	p.Thr395Ala	missense variant	-	NC_000011.10:g.75572009A>G	gnomAD
NCI-TCGA novel	p.Thr395Ile	missense variant	-	NC_000011.10:g.75572010C>T	NCI-TCGA
rs1045176937	p.Gly398Ser	missense variant	-	NC_000011.10:g.75572018G>A	TOPMed,gnomAD
rs765402376	p.Gly398Val	missense variant	-	NC_000011.10:g.75572019G>T	ExAC,TOPMed,gnomAD
rs376520307	p.Ser399Phe	missense variant	-	NC_000011.10:g.75572022C>T	ESP,TOPMed,gnomAD
rs376520307	p.Ser399Tyr	missense variant	-	NC_000011.10:g.75572022C>A	ESP,TOPMed,gnomAD
rs943602399	p.Leu400Gln	missense variant	-	NC_000011.10:g.75572025T>A	gnomAD
rs943602399	p.Leu400Pro	missense variant	-	NC_000011.10:g.75572025T>C	gnomAD
rs547644799	p.Leu401Val	missense variant	-	NC_000011.10:g.75572027C>G	1000Genomes
rs201566218	p.Ile403Thr	missense variant	-	NC_000011.10:g.75572034T>C	ESP,ExAC,TOPMed,gnomAD
rs758706956	p.Ile403Val	missense variant	-	NC_000011.10:g.75572033A>G	ExAC,gnomAD
RCV000377379	p.Ile403Thr	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75572034T>C	ClinVar
rs781125078	p.Arg405His	missense variant	-	NC_000011.10:g.75572040G>A	ExAC,gnomAD
rs757124438	p.Arg405Cys	missense variant	-	NC_000011.10:g.75572039C>T	ExAC,TOPMed,gnomAD
RCV000656724	p.Arg405His	missense variant	Osteogenesis imperfecta type 10 (OI10)	NC_000011.10:g.75572040G>A	ClinVar
rs138241050	p.Val407Leu	missense variant	-	NC_000011.10:g.75572045G>C	ESP,ExAC,TOPMed,gnomAD
rs371699925	p.Arg408Gln	missense variant	-	NC_000011.10:g.75572049G>A	ESP,ExAC,TOPMed,gnomAD
rs769154335	p.Arg408Trp	missense variant	-	NC_000011.10:g.75572048C>T	ExAC,TOPMed,gnomAD
rs1448285880	p.Pro409Ala	missense variant	-	NC_000011.10:g.75572051C>G	gnomAD
rs773655408	p.Lys410Glu	missense variant	-	NC_000011.10:g.75572054A>G	ExAC,TOPMed,gnomAD
RCV000779627	p.Asp412Ter	nonsense	Osteogenesis imperfecta type 10 (OI10)	NC_000011.10:g.75572059dup	ClinVar
rs200334001	p.Asp412Glu	missense variant	-	NC_000011.10:g.75572062C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs761143786	p.Asp412Asn	missense variant	-	NC_000011.10:g.75572060G>A	ExAC,gnomAD
rs777250907	p.Lys413Arg	missense variant	-	NC_000011.10:g.75572064A>G	ExAC,gnomAD
rs1345847003	p.Met414Thr	missense variant	-	NC_000011.10:g.75572067T>C	gnomAD
rs149137596	p.Arg415Gly	missense variant	-	NC_000011.10:g.75572069C>G	ESP,TOPMed,gnomAD
rs760141322	p.Arg415Gln	missense variant	-	NC_000011.10:g.75572070G>A	ExAC,gnomAD
rs145015985	p.Asp416Glu	missense variant	-	NC_000011.10:g.75572074C>G	ESP,ExAC,TOPMed,gnomAD
rs1292850878	p.Glu417Lys	missense variant	-	NC_000011.10:g.75572075G>A	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0003873	Rheumatoid Arthritis	disease	BEFREE;LHGDN
C0004364	Autoimmune Diseases	group	BEFREE;LHGDN
C0005890	Body Height	phenotype	GWASCAT;GWASDB
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007222	Cardiovascular Diseases	group	BEFREE
C0009324	Ulcerative Colitis	disease	BEFREE
C0010054	Coronary Arteriosclerosis	disease	BEFREE
C0011311	Dengue Fever	disease	BEFREE
C0011334	Dental caries	disease	BEFREE
C0011436	Dentinogenesis Imperfecta	disease	HPO
C0011644	Scleroderma	disease	BEFREE
C0014118	Endocarditis	disease	BEFREE
C0014121	Bacterial Endocarditis	group	BEFREE
C0017638	Glioma	disease	BEFREE
C0018553	Hamartoma Syndrome, Multiple	disease	BEFREE
C0019294	Hernia, Inguinal	phenotype	HPO
C0020437	Hypercalcemia	disease	BEFREE
C0021400	Influenza	disease	BEFREE
C0022116	Ischemia	phenotype	CTD_human
C0023267	Fibroid Tumor	group	BEFREE
C0023492	Leukemia, T-Cell	disease	BEFREE
C0023493	Adult T-Cell Lymphoma/Leukemia	disease	BEFREE
C0023890	Liver Cirrhosis	disease	CTD_human
C0023893	Liver Cirrhosis, Experimental	disease	CTD_human
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025990	Micrognathism	disease	HPO
C0025995	Micromelia	disease	HPO
C0027651	Neoplasms	group	BEFREE
C0027819	Neuroblastoma	group	BEFREE
C0029434	Osteogenesis Imperfecta	disease	BEFREE;GENOMICS_ENGLAND;MGD
C0029453	Osteopenia	disease	HPO
C0030481	Tropical Spastic Paraparesis	disease	BEFREE
C0030804	Pemphigoid, Benign Mucous Membrane	disease	BEFREE;LHGDN
C0031511	Pheochromocytoma	disease	BEFREE
C0034194	Pyloric Stenosis	phenotype	HPO
C0035222	Respiratory Distress Syndrome, Adult	disease	CTD_human
C0036220	Kaposi Sarcoma	disease	BEFREE
C0036421	Systemic Scleroderma	disease	BEFREE
C0037284	Skin lesion	group	BEFREE
C0037932	Curvature of spine	phenotype	HPO
C0042133	Uterine Fibroids	group	BEFREE
C0079293	Epidermolysis Bullosa Acquisita	disease	BEFREE;LHGDN
C0086437	Joint laxity	phenotype	HPO
C0151517	Complete atrioventricular block	disease	BEFREE
C0155164	Conjunctival scar	phenotype	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0206172	Diabetic Foot	disease	BEFREE
C0206708	Cervical Intraepithelial Neoplasia	disease	BEFREE
C0238281	Middle Cerebral Artery Syndrome	disease	CTD_human
C0239676	High forehead	phenotype	HPO
C0239946	Fibrosis, Liver	disease	BEFREE;CTD_human
C0241703	High pitched voice	phenotype	HPO
C0262428	Collagen-vascular disease	disease	BEFREE
C0262431	Compression fracture of vertebral column	phenotype	HPO
C0264683	Coronary artery atheroma	disease	BEFREE
C0268362	Osteogenesis imperfecta type III (disorder)	disease	ORPHANET
C0279626	Squamous cell carcinoma of esophagus	disease	BEFREE
C0279671	Cervical Squamous Cell Carcinoma	disease	BEFREE
C0280324	Laryngeal Squamous Cell Carcinoma	disease	BEFREE
C0333463	Senile Plaques	phenotype	BEFREE
C0349588	Short stature	phenotype	HPO
C0392525	Nephrolithiasis	disease	HPO
C0399440	Hereditary gingival fibromatosis	disease	BEFREE
C0410550	Collapse of vertebra	disease	HPO
C0426790	Narrow thorax	phenotype	HPO
C0426818	Thin rib	phenotype	HPO
C0524909	Hepatitis B, Chronic	disease	BEFREE
C0542514	Blue sclera	phenotype	HPO
C0562350	Hip circumference	phenotype	GWASCAT
C0576093	Knee joint valgus deformity	phenotype	HPO
C0578022	Finding of body mass index	phenotype	GWASCAT
C0678222	Breast Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C0700208	Acquired scoliosis	phenotype	HPO
C0729264	Preterm premature rupture of membranes (disorder)	phenotype	CTD_human
C0740376	Middle Cerebral Artery Thrombosis	disease	CTD_human
C0740391	Middle Cerebral Artery Occlusion	phenotype	CTD_human
C0740392	Infarction, Middle Cerebral Artery	disease	CTD_human
C0746102	Chronic lung disease	group	HPO
C0747078	Generalized osteopenia	disease	HPO
C0751845	Middle Cerebral Artery Embolus	disease	CTD_human
C0751846	Left Middle Cerebral Artery Infarction	disease	CTD_human
C0751847	Embolic Infarction, Middle Cerebral Artery	disease	CTD_human
C0751848	Thrombotic Infarction, Middle Cerebral Artery	disease	CTD_human
C0751849	Right Middle Cerebral Artery Infarction	disease	CTD_human
C0862196	Mycosis fungoides/Sezary syndrome NOS	disease	BEFREE
C1282359	Ocular Cicatricial Pemphigoid	disease	BEFREE
C1290344	Nonspecific interstitial pneumonia	disease	BEFREE
C1305855	Body mass index	phenotype	GWASCAT
C1456868	Diabetic foot ulcer	disease	BEFREE
C1541923	Infective endocarditis	disease	BEFREE
C1835884	Triangular face	phenotype	HPO
C1836308	Generalized joint laxity	phenotype	HPO
C1837260	Prominent forehead	phenotype	HPO
C1839758	Narrow forehead	phenotype	HPO
C1844704	Platyspondyly	phenotype	HPO
C1848654	Broad ribs	phenotype	HPO
C1849075	Relative macrocephaly	disease	HPO
C1853242	Midface retrusion	phenotype	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1858085	Malar flattening	phenotype	HPO
C1858120	Generalized hypotonia	phenotype	HPO
C1865244	Shallow orbits	phenotype	HPO
C1867446	Bulging forehead	phenotype	HPO
C1956346	Coronary Artery Disease	disease	GWASCAT
C2673410	Small midface	phenotype	HPO
C2936349	Plaque, Amyloid	phenotype	BEFREE
C3151211	OSTEOGENESIS IMPERFECTA, TYPE X	disease	CLINVAR;CTD_human;MGD;UNIPROT
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4025186	T-cell lymphoma/leukemia	disease	BEFREE
C4049938	Physical Activity Measurement	phenotype	GWASCAT
C4280320	Hypotrophic midface	phenotype	HPO
C4280321	Decreased projection of midface	phenotype	HPO
C4280651	Hypotrophic malar bone	phenotype	HPO
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003723	RNA binding	HDA
GO:0004867	serine-type endopeptidase inhibitor activity	IBA
GO:0005518	collagen binding	NAS
GO:0051082	unfolded protein binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0003433	chondrocyte development involved in endochondral bone morphogenesis	IEA
GO:0006986	response to unfolded protein	TAS
GO:0010951	negative regulation of endopeptidase activity	IBA
GO:0030199	collagen fibril organization	IBA
GO:0032964	collagen biosynthetic process	IEA
GO:0051604	protein maturation	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005615	extracellular space	IEA
GO:0005783	endoplasmic reticulum	IDA
GO:0005783	endoplasmic reticulum	IBA
GO:0005783	endoplasmic reticulum	NAS
GO:0005788	endoplasmic reticulum lumen	TAS
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IDA
GO:0045121	membrane raft	IDA
GO:0062023	collagen-containing extracellular matrix	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1474244	Extracellular matrix organization	TAS
R-HSA-1474290	Collagen formation	TAS
R-HSA-1650814	Collagen biosynthesis and modifying enzymes	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in increased expression of SERPINH1 mRNA	20551477; 25380136;
C581572	1-trifluoromethoxyphenyl-3-(1-propionylpiperidine-4-yl)urea	1-trifluoromethoxyphenyl-3-(1-propionylpiperidine-4-yl)urea results in increased expression of SERPINH1 mRNA	25827057
C581572	1-trifluoromethoxyphenyl-3-(1-propionylpiperidine-4-yl)urea	[Carbon Tetrachloride co-treated with 1-trifluoromethoxyphenyl-3-(1-propionylpiperidine-4-yl)urea] results in increased expression of SERPINH1 mRNA	25827057
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of SERPINH1 mRNA	19114083
C013186	2,3-pentanedione	2,3-pentanedione results in increased expression of SERPINH1 mRNA	25710175
C049584	2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine	2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine results in decreased expression of SERPINH1 mRNA	29877212
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of SERPINH1 mRNA	25380136
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 decreased expression of SERPINH1 mRNA	27188386
D000082	Acetaminophen	Acetaminophen results in increased expression of SERPINH1 mRNA	21420995
D000082	Acetaminophen	Acetaminophen affects the expression of SERPINH1 mRNA	17562736
D000111	Acetylcysteine	Acetylcysteine inhibits the reaction [cobaltous chloride results in decreased expression of SERPINH1 mRNA]	13679210
D000111	Acetylcysteine	Acetylcysteine inhibits the reaction [cobaltous chloride results in decreased expression of SERPINH1 protein]	13679210
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of SERPINH1 gene	27153756
C000188	alachlor	alachlor results in increased expression of SERPINH1 mRNA	12419858
D019386	Alendronate	Alendronate affects the expression of SERPINH1 mRNA	16079270
C038491	allyl sulfide	allyl sulfide inhibits the reaction [Bleomycin results in increased expression of SERPINH1 protein]	23656969
D000537	Aluminum Oxide	Aluminum Oxide results in increased expression of SERPINH1 mRNA	19464052
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of SERPINH1 mRNA	16483693
D001151	Arsenic	Arsenic affects the methylation of SERPINH1 gene	25304211
D000077237	Arsenic Trioxide	Arsenic Trioxide results in increased expression of SERPINH1 mRNA	27829220
D001280	Atrazine	Atrazine results in increased expression of SERPINH1 mRNA	22378314
C547126	AZM551248	AZM551248 results in increased expression of SERPINH1 mRNA	22323515
C044946	benazepril	benazepril results in increased expression of SERPINH1 mRNA	14871019
D000077610	Bexarotene	Bexarotene results in increased expression of SERPINH1 mRNA	17630414
C006780	bisphenol A	bisphenol A results in decreased expression of SERPINH1 mRNA	30816183
C006780	bisphenol A	bisphenol A results in increased expression of SERPINH1 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased methylation of SERPINH1 gene	28505145
C000611646	bisphenol F	[bisphenol F co-treated with Tretinoin] results in decreased expression of SERPINH1 mRNA	30951980
C005961	bis(tri-n-butyltin)oxide	bis(tri-n-butyltin)oxide results in increased expression of SERPINH1 mRNA	25270620
D001761	Bleomycin	allyl sulfide inhibits the reaction [Bleomycin results in increased expression of SERPINH1 protein]	23656969
D001761	Bleomycin	Bleomycin results in increased expression of SERPINH1 protein	23656969; 25933445;
D002084	Butylated Hydroxytoluene	Butylated Hydroxytoluene results in increased expression of SERPINH1 mRNA	19925653
D002104	Cadmium	Cadmium results in increased expression of SERPINH1 mRNA	21120746
D002104	Cadmium	Cadmium results in increased expression of SERPINH1 mRNA	12890491
C037123	cadmium sulfate	cadmium sulfate affects the reaction [MTF1 affects the expression of SERPINH1 mRNA]	16221973
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of SERPINH1 mRNA	16815347; 18207697;
D002251	Carbon Tetrachloride	[Carbon Tetrachloride co-treated with 1-trifluoromethoxyphenyl-3-(1-propionylpiperidine-4-yl)urea] results in increased expression of SERPINH1 mRNA	25827057
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of SERPINH1 protein	14993737
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of SERPINH1 mRNA	11481614; 27042213; 27339419;
D002251	Carbon Tetrachloride	HAS3 protein affects the reaction [Carbon Tetrachloride results in increased expression of SERPINH1 mRNA]	27042213
D002251	Carbon Tetrachloride	LEP protein promotes the reaction [Carbon Tetrachloride results in increased expression of SERPINH1 mRNA]	11481614
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of SERPINH1 mRNA	12734012
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of SERPINH1 mRNA	15728706; 16420518;
D002251	Carbon Tetrachloride	Celecoxib promotes the reaction [Carbon Tetrachloride results in increased expression of SERPINH1 mRNA]	16420518
D000077261	Carvedilol	Carvedilol inhibits the reaction [Norepinephrine results in increased expression of SERPINH1 mRNA]	10722803
D000077261	Carvedilol	Carvedilol inhibits the reaction [Norepinephrine results in increased expression of SERPINH1 protein]	10722803
D000068579	Celecoxib	Celecoxib promotes the reaction [Carbon Tetrachloride results in increased expression of SERPINH1 mRNA]	16420518
C100187	chloropicrin	chloropicrin results in increased expression of SERPINH1 mRNA	26352163
D002737	Chloroprene	Chloroprene results in decreased expression of SERPINH1 mRNA	23125180
D002762	Cholecalciferol	Cholecalciferol results in increased expression of SERPINH1 mRNA	17170073
C074702	chromium hexavalent ion	chromium hexavalent ion affects the expression of SERPINH1 mRNA	28472532
D002945	Cisplatin	Cisplatin results in increased expression of SERPINH1 mRNA	27594783
D002994	Clofibrate	Clofibrate results in increased expression of SERPINH1 mRNA	17585979
C018021	cobaltous chloride	Acetylcysteine inhibits the reaction [cobaltous chloride results in decreased expression of SERPINH1 mRNA]	13679210
C018021	cobaltous chloride	Acetylcysteine inhibits the reaction [cobaltous chloride results in decreased expression of SERPINH1 protein]	13679210
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of SERPINH1 mRNA	13679210
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of SERPINH1 protein	13679210
C018021	cobaltous chloride	[cobaltous chloride results in increased chemical synthesis of Reactive Oxygen Species] which results in decreased expression of SERPINH1 mRNA	13679210
C018021	cobaltous chloride	cobaltous chloride results in increased expression of SERPINH1 mRNA	17553155; 19376846;
C018021	cobaltous chloride	Wortmannin inhibits the reaction [cobaltous chloride results in decreased expression of SERPINH1 mRNA]	13679210
C018021	cobaltous chloride	Wortmannin inhibits the reaction [cobaltous chloride results in decreased expression of SERPINH1 protein]	13679210
D003300	Copper	[NSC 689534 binds to Copper] which results in increased expression of SERPINH1 mRNA	20971185
D003300	Copper	[ATP7A gene mutant form results in increased abundance of Copper] which results in increased expression of SERPINH1 mRNA	15467011
D019327	Copper Sulfate	Copper Sulfate results in increased expression of SERPINH1 mRNA	19549813
D003471	Cuprizone	Cuprizone results in increased expression of SERPINH1 mRNA	26577399
D003474	Curcumin	Curcumin inhibits the reaction [Thioacetamide results in increased expression of SERPINH1 mRNA]	24704557
D016572	Cyclosporine	Cyclosporine results in decreased expression of SERPINH1 mRNA	25562108; 27989131;
D016572	Cyclosporine	Cyclosporine results in increased expression of SERPINH1 mRNA	20106945
D003561	Cytarabine	Cytarabine results in decreased expression of SERPINH1 mRNA	21198554
D003913	Dextroamphetamine	Dextroamphetamine results in increased expression of SERPINH1 mRNA	12558987
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of SERPINH1 mRNA	21266533
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of SERPINH1 mRNA	17379624
D004008	Diclofenac	Diclofenac results in decreased expression of SERPINH1 mRNA	26934552
D004041	Dietary Fats	Dietary Fats results in decreased expression of SERPINH1 mRNA	18042831
D004128	Dimethylnitrosamine	Dimethylnitrosamine results in increased expression of SERPINH1 mRNA	18239293
D004128	Dimethylnitrosamine	Vitamin B 12 inhibits the reaction [Dimethylnitrosamine results in increased expression of SERPINH1 mRNA]	18239293
D004128	Dimethylnitrosamine	Dimethylnitrosamine results in increased expression of SERPINH1 mRNA	25380136
D004237	Diuron	Diuron results in decreased expression of SERPINH1 mRNA	25152437
D004237	Diuron	Diuron results in increased expression of SERPINH1 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 decreased expression of SERPINH1 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in increased expression of SERPINH1 mRNA	17680992; 29803840;
D004317	Doxorubicin	Doxorubicin results in increased expression of SERPINH1 mRNA	30261314
D004365	Drugs, Chinese Herbal	Drugs, Chinese Herbal results in increased expression of SERPINH1 mRNA	23811387
D004726	Endosulfan	Endosulfan results in decreased expression of SERPINH1 mRNA	29391264
D004958	Estradiol	Estradiol results in increased expression of SERPINH1 mRNA	20106945
D000431	Ethanol	Ethanol results in decreased expression of SERPINH1 mRNA	17920746
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of SERPINH1 mRNA	17555576
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of SERPINH1 mRNA	16174780; 16467188; 17942748; 19400957;
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SERPINH1 mRNA	17942748
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of SERPINH1 mRNA	16079270
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of SERPINH1 mRNA	17557909
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of SERPINH1 mRNA	16174780; 19400957;
C540355	fenamidone	fenamidone results in increased expression of SERPINH1 mRNA	27029645
D017313	Fenretinide	Fenretinide results in decreased expression of SERPINH1 mRNA	28973697
D005419	Flavonoids	Flavonoids results in increased expression of SERPINH1 mRNA	18035473
D005485	Flutamide	Flutamide results in decreased expression of SERPINH1 mRNA	24136188
C473894	fujiflavone P40	fujiflavone P40 results in increased expression of SERPINH1 mRNA	14656947
C039281	furan	furan results in increased expression of SERPINH1 mRNA	27387713
D005839	Gentamicins	Gentamicins results in increased expression of SERPINH1 protein	9741354
D005944	Glucosamine	Glucosamine results in increased expression of SERPINH1 protein	16380481
D006046	Gold	Gold analog results in decreased expression of SERPINH1 protein	24780912
D006820	Hyaluronic Acid	Hyaluronic Acid analog affects the expression of SERPINH1 protein	23178681
D006820	Hyaluronic Acid	Hyaluronic Acid analog inhibits the reaction [Hydrogen Peroxide results in decreased expression of SERPINH1 protein]	23178681
D006861	Hydrogen Peroxide	Hyaluronic Acid analog inhibits the reaction [Hydrogen Peroxide results in decreased expression of SERPINH1 protein]	23178681
D006861	Hydrogen Peroxide	Hydrogen Peroxide results in decreased expression of SERPINH1 protein	23178681
C492448	ICG 001	ICG 001 results in increased expression of SERPINH1 mRNA	26191083
D000068877	Imatinib Mesylate	Imatinib Mesylate results in decreased expression of SERPINH1 mRNA	24321339
D007654	Ketoconazole	Ketoconazole inhibits the reaction [Tunicamycin results in decreased glycosylation of SERPINH1 protein]	16330322
D064704	Levofloxacin	Levofloxacin results in decreased expression of SERPINH1 mRNA	24136188
D008070	Lipopolysaccharides	Lipopolysaccharides results in increased expression of SERPINH1 mRNA	27339419
C530108	LY2109761	LY2109761 inhibits the reaction [TGFB1 protein results in increased expression of SERPINH1 mRNA]	30008374
D008694	Methamphetamine	Methamphetamine results in increased expression of SERPINH1 mRNA	29802913
D008727	Methotrexate	Methotrexate results in decreased expression of SERPINH1 mRNA	17400583
D008727	Methotrexate	Methotrexate affects the expression of SERPINH1 mRNA	18502557
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of SERPINH1 mRNA	23649840
D037742	Nanotubes, Carbon	Nanotubes, Carbon affects the expression of SERPINH1 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of SERPINH1 mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of SERPINH1 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of SERPINH1 mRNA	25620056
D009285	Naphthoquinones	Naphthoquinones results in increased expression of SERPINH1 mRNA	23811387
C017096	n-butoxyethanol	n-butoxyethanol results in decreased expression of SERPINH1 mRNA	19812364
D009532	Nickel	Nickel results in increased expression of SERPINH1 mRNA	24768652; 25583101;
C029938	nickel sulfate	nickel sulfate results in decreased expression of SERPINH1 mRNA	22714537
D009538	Nicotine	Nicotine results in decreased expression of SERPINH1 mRNA	16949557
D009638	Norepinephrine	Carvedilol inhibits the reaction [Norepinephrine results in increased expression of SERPINH1 mRNA]	10722803
D009638	Norepinephrine	Carvedilol inhibits the reaction [Norepinephrine results in increased expression of SERPINH1 protein]	10722803
D009638	Norepinephrine	Norepinephrine results in increased expression of SERPINH1 mRNA	10722803
D009638	Norepinephrine	Norepinephrine results in increased expression of SERPINH1 protein	10722803
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in increased expression of SERPINH1 mRNA	20971185
D000077150	Oxaliplatin	Oxaliplatin results in decreased expression of SERPINH1 mRNA	16510598
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of SERPINH1 mRNA	25729387
D000077150	Oxaliplatin	Oxaliplatin results in increased expression of SERPINH1 mRNA	25729387
D010100	Oxygen	HIF1A protein alternative form inhibits the reaction [Oxygen deficiency results in increased expression of SERPINH1 mRNA]	11739637
D010100	Oxygen	Oxygen deficiency results in increased expression of SERPINH1 mRNA	11739637; 13679210;
D010100	Oxygen	SB 203580 inhibits the reaction [Oxygen deficiency results in increased expression of SERPINH1 mRNA]	13679210
D000073878	Palm Oil	Palm Oil results in decreased expression of SERPINH1 mRNA	18042831
D010269	Paraquat	SERPINH1 protein results in increased susceptibility to Paraquat	17543438
C568608	PCI 5002	[PCI 5002 co-treated with Zinc] results in increased expression of SERPINH1 mRNA	18593933
C568608	PCI 5002	PCI 5002 results in increased expression of SERPINH1 mRNA	18593933
C471071	perfluorohexanesulfonic acid	perfluorohexanesulfonic acid results in decreased expression of SERPINH1 mRNA	22790973
C006253	pirinixic acid	pirinixic acid results in increased expression of SERPINH1 mRNA	19162173; 21318169;
D010938	Plant Oils	Plant Oils results in increased expression of SERPINH1 mRNA	23370395
D011192	Potassium Dichromate	Potassium Dichromate results in decreased expression of SERPINH1 mRNA	18332044
D011374	Progesterone	Progesterone results in decreased expression of SERPINH1 mRNA	23018184
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of SERPINH1 mRNA	27029645
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride affects the expression of SERPINH1 mRNA	16079270
D017382	Reactive Oxygen Species	[cobaltous chloride results in increased chemical synthesis of Reactive Oxygen Species] which results in decreased expression of SERPINH1 mRNA	13679210
D000077185	Resveratrol	Resveratrol affects the secretion of SERPINH1 protein	24802182
D000077185	Resveratrol	Resveratrol results in decreased expression of SERPINH1 mRNA	23815229
D000077185	Resveratrol	Resveratrol results in increased expression of SERPINH1 protein	25505154
D012402	Rotenone	Rotenone results in decreased expression of SERPINH1 mRNA	28374803
C093642	SB 203580	SB 203580 inhibits the reaction [Oxygen deficiency results in increased expression of SERPINH1 mRNA]	13679210
C093642	SB 203580	SB 203580 results in decreased expression of SERPINH1 mRNA	13679210
D012834	Silver	Silver results in increased expression of SERPINH1 mRNA	26014281; 28959546;
C518471	silybin-phytosome	silybin-phytosome inhibits the reaction [Thioacetamide results in increased expression of SERPINH1 mRNA]	24704557
C017947	sodium arsenite	sodium arsenite results in increased expression of SERPINH1 mRNA	12377979
D012969	Sodium Fluoride	Sodium Fluoride results in increased expression of SERPINH1 protein	29653260
D012999	Soman	Soman results in increased expression of SERPINH1 mRNA	19281266
D000077157	Sorafenib	Sorafenib results in decreased expression of SERPINH1 mRNA	24321339
D013311	Streptozocin	Streptozocin results in increased expression of SERPINH1 protein	12197670
D000077210	Sunitinib	Sunitinib results in decreased expression of SERPINH1 mRNA	24321339
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of SERPINH1 mRNA	31299295
D013629	Tamoxifen	Tamoxifen affects the expression of SERPINH1 mRNA	17555576
D013629	Tamoxifen	Tamoxifen results in increased expression of SERPINH1 mRNA	19400957
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in increased expression of SERPINH1 mRNA	12766906
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of SERPINH1 mRNA	26377647
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SERPINH1 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of SERPINH1 mRNA	16467188; 17942748; 27562557;
D019284	Thapsigargin	Thapsigargin results in increased expression of SERPINH1 mRNA	22378314
D013849	Thimerosal	Thimerosal results in increased expression of SERPINH1 mRNA	16870260
D013853	Thioacetamide	Curcumin inhibits the reaction [Thioacetamide results in increased expression of SERPINH1 mRNA]	24704557
D013853	Thioacetamide	silybin-phytosome inhibits the reaction [Thioacetamide results in increased expression of SERPINH1 mRNA]	24704557
D013853	Thioacetamide	Thioacetamide results in increased expression of SERPINH1 mRNA	24704557
D013853	Thioacetamide	Thioctic Acid inhibits the reaction [Thioacetamide results in increased expression of SERPINH1 mRNA]	24704557
D008063	Thioctic Acid	Thioctic Acid inhibits the reaction [Thioacetamide results in increased expression of SERPINH1 mRNA]	24704557
D013893	Thiram	Thiram results in increased expression of SERPINH1 protein	23358143
C009495	titanium dioxide	titanium dioxide results in decreased expression of SERPINH1 protein	30910687
C009495	titanium dioxide	titanium dioxide results in increased expression of SERPINH1 mRNA	23557971
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of SERPINH1 protein	30291989
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of SERPINH1 mRNA	28065790
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of SERPINH1 mRNA	28111298
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of SERPINH1 mRNA	25729387
D019772	Topotecan	Topotecan results in increased expression of SERPINH1 mRNA	25729387
D014212	Tretinoin	[bisphenol F co-treated with Tretinoin] results in decreased expression of SERPINH1 mRNA	30951980
D014212	Tretinoin	Tretinoin results in increased expression of SERPINH1 mRNA	16604517; 20117194;
D014212	Tretinoin	Tretinoin results in increased expression of SERPINH1 mRNA	24977338
C012589	trichostatin A	trichostatin A affects the expression of SERPINH1 mRNA	28542535
D014260	Triclosan	Triclosan results in decreased expression of SERPINH1 protein	30219713
D014260	Triclosan	Triclosan results in increased expression of SERPINH1 protein	30219713
D014415	Tunicamycin	Tunicamycin results in increased expression of SERPINH1 mRNA	22378314
D014415	Tunicamycin	Ketoconazole inhibits the reaction [Tunicamycin results in decreased glycosylation of SERPINH1 protein]	16330322
D014415	Tunicamycin	Tunicamycin results in decreased glycosylation of SERPINH1 protein	16330322
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 decreased expression of SERPINH1 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of SERPINH1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of SERPINH1 mRNA	23179753; 25192806; 26272509; 28001369; 29154799;
D014635	Valproic Acid	Valproic Acid affects the expression of SERPINH1 mRNA	17292431; 17963808;
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of SERPINH1 gene	25560391
C025643	vinclozolin	vinclozolin affects the expression of SERPINH1 mRNA	19015723
C025643	vinclozolin	vinclozolin results in increased expression of SERPINH1 mRNA	23034163
D014805	Vitamin B 12	Vitamin B 12 inhibits the reaction [Dimethylnitrosamine results in increased expression of SERPINH1 mRNA]	18239293
D000077191	Wortmannin	Wortmannin inhibits the reaction [cobaltous chloride results in decreased expression of SERPINH1 mRNA]	13679210
D000077191	Wortmannin	Wortmannin inhibits the reaction [cobaltous chloride results in decreased expression of SERPINH1 protein]	13679210
D015032	Zinc	[PCI 5002 co-treated with Zinc] results in increased expression of SERPINH1 mRNA	18593933
D015032	Zinc	Zinc results in decreased expression of SERPINH1 protein	15984569
D000077211	Zoledronic Acid	Zoledronic Acid results in increased expression of SERPINH1 mRNA	20977926; 24714768;

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0007	Acetylation
KW-0143	Chaperone
KW-0256	Endoplasmic reticulum
KW-0325	Glycoprotein
KW-1065	Osteogenesis imperfecta
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0732	Signal
KW-0346	Stress response

Interpro

InterPro ID	InterPro Term
IPR023795	Serpin_CS
IPR023796	Serpin_dom
IPR000215	Serpin_fam
IPR033830	Serpin_H1_domain
IPR036186	Serpin_sf
IPR042178	Serpin_sf_1
IPR042185	Serpin_sf_2
IPR033547	SERPINH1

PROSITE

PROSITE ID	PROSITE Term
PS00014	ER_TARGET
PS00284	SERPIN

Pfam

Pfam ID	Pfam Term
PF00079	Serpin

Gene: SERPINH1

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