CleftGeneDB-Search

Gene: MYBPHL

Basic information

Tag	Content
Uniprot ID	A2RUH7; B7ZME5; Q5T2Z7;
Entrez ID	343263
Genbank protein ID	AAI32903.1; AAI44472.1; EAW56379.1; AAI32901.1;
Genbank nucleotide ID	NM_001010985.2; NM_001265613.1; XM_017001174.1; XM_017001175.1; XM_017001173.1;
Ensembl protein ID	ENSP00000349678
Ensembl nucleotide ID	ENSG00000221986
Gene name	Myosin-binding protein H-like
Gene symbol	MYBPHL
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Myosin-binding protein which plays a role in cardiac function (PubMed:28778945). Seems to regulate conduction in the atria and ventricular conduction systems (PubMed:28778945).
Sequence	MEAATAPEVA AGSKLKVKEA SPADAEPPQA SPGQGAGSPT PQLLPPIEEH PKIWLPRALR 60 QTYIRKVGDT VNLLIPFQGK PKPQAIWTHD GCALDTRRVS VRNGEQDSIL FIREAQRADS 120 GRYQLRVQLG GLEATATIDI LVIERPGPPQ SIKLVDVWGF SATLEWTPPQ DTGNTALLGY 180 TVQKADTKSG LWFTVLEHYH RTSCIVSDLI IGNSYAFRVF AENQCGLSET APITTDLAHI 240 QKAATVYKTK GFAQRDFSEA PKFTQPLADC TTVTGYNTQL FCCVRASPRP KIIWLKNKMD 300 IQGNPKYRAL THLGICSLEI RKPGPFDGGI YTCKAVNPLG EASVDCRVDV KVPN 354

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	MYBPHL	538875	E1BJ10		Bos taurus	Prediction	More>>
1:1 ortholog	MYBPHL		A0A452FPL8		Capra hircus	Prediction	More>>
1:1 ortholog	MYBPHL	343263	A2RUH7		Homo sapiens	Prediction	More>>
1:1 ortholog	Mybphl	68753	Q5FW53	CPO	Mus musculus	Publication	More>>
1:1 ortholog	MYBPHL	457089	H2R227		Pan troglodytes	Prediction	More>>
1:1 ortholog	MYBPHL	100341020	G1U4R4		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Mybphl	310782	Q5PQM4		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs933379923	p.Ala3Gly	missense variant	-	NC_000001.11:g.109306984G>C	TOPMed
rs933379923	p.Ala3Glu	missense variant	-	NC_000001.11:g.109306984G>T	TOPMed
rs774909164	p.Ala4Val	missense variant	-	NC_000001.11:g.109306981G>A	ExAC,gnomAD
rs769017000	p.Thr5Ala	missense variant	-	NC_000001.11:g.109306979T>C	ExAC,gnomAD
rs149020854	p.Ala6Val	missense variant	-	NC_000001.11:g.109306975G>A	ESP,TOPMed,gnomAD
rs527490774	p.Ala6Thr	missense variant	-	NC_000001.11:g.109306976C>T	1000Genomes,ExAC,gnomAD
rs1270883631	p.Pro7Ser	missense variant	-	NC_000001.11:g.109306973G>A	gnomAD
rs368749988	p.Pro7Leu	missense variant	-	NC_000001.11:g.109306972G>A	1000Genomes,ExAC,gnomAD
rs752249870	p.Ala11Glu	missense variant	-	NC_000001.11:g.109306960G>T	ExAC,gnomAD
rs925303468	p.Ala11Thr	missense variant	-	NC_000001.11:g.109306961C>T	TOPMed,gnomAD
rs1206977038	p.Gly12Arg	missense variant	-	NC_000001.11:g.109306958C>T	TOPMed
rs1289526981	p.Lys14Glu	missense variant	-	NC_000001.11:g.109306952T>C	TOPMed
rs1386004395	p.Val17Met	missense variant	-	NC_000001.11:g.109306943C>T	gnomAD
NCI-TCGA novel	p.Lys18Glu	missense variant	-	NC_000001.11:g.109306940T>C	NCI-TCGA
rs1328185709	p.Ser21Arg	missense variant	-	NC_000001.11:g.109306929G>C	gnomAD
rs1462098640	p.Pro22Ala	missense variant	-	NC_000001.11:g.109306928G>C	gnomAD
rs149896314	p.Ala23Val	missense variant	-	NC_000001.11:g.109306924G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149896314	p.Ala23Glu	missense variant	-	NC_000001.11:g.109306924G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3801183	p.Glu26Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.109306916C>T	NCI-TCGA Cosmic
rs531539132	p.Pro27Ser	missense variant	-	NC_000001.11:g.109306913G>A	1000Genomes,ExAC,gnomAD
rs1435209438	p.Gln29Ter	stop gained	-	NC_000001.11:g.109306907G>A	TOPMed,gnomAD
rs766116589	p.Ala30Ser	missense variant	-	NC_000001.11:g.109306904C>A	ExAC,TOPMed
rs766116589	p.Ala30Thr	missense variant	-	NC_000001.11:g.109306904C>T	ExAC,TOPMed
rs760447925	p.Pro32Ser	missense variant	-	NC_000001.11:g.109306898G>A	ExAC,gnomAD
rs773432260	p.Pro32Leu	missense variant	-	NC_000001.11:g.109306897G>A	ExAC,gnomAD
rs1007579987	p.Gly33Glu	missense variant	-	NC_000001.11:g.109306894C>T	TOPMed
rs1390977849	p.Gln34Arg	missense variant	-	NC_000001.11:g.109306891T>C	TOPMed
rs1195116001	p.Gly37Asp	missense variant	-	NC_000001.11:g.109306882C>T	gnomAD
rs774396298	p.Ser38Asn	missense variant	-	NC_000001.11:g.109306879C>T	ExAC,gnomAD
rs768734859	p.Pro39Thr	missense variant	-	NC_000001.11:g.109306877G>T	ExAC,TOPMed,gnomAD
rs770069680	p.Pro41Ala	missense variant	-	NC_000001.11:g.109306871G>C	ExAC,gnomAD
rs746221665	p.Pro41Arg	missense variant	-	NC_000001.11:g.109306870G>C	ExAC,gnomAD
rs146017045	p.Pro46Ser	missense variant	-	NC_000001.11:g.109306856G>A	ESP,ExAC,TOPMed,gnomAD
rs146017045	p.Pro46Ala	missense variant	-	NC_000001.11:g.109306856G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu49Lys	missense variant	-	NC_000001.11:g.109306847C>T	NCI-TCGA
rs778557706	p.His50Asn	missense variant	-	NC_000001.11:g.109298255G>T	ExAC,TOPMed,gnomAD
rs1363898224	p.Lys52Glu	missense variant	-	NC_000001.11:g.109298249T>C	gnomAD
NCI-TCGA novel	p.Lys52ArgPheSerTerUnk	frameshift	-	NC_000001.11:g.109298250G>-	NCI-TCGA
rs1259527733	p.Trp54Ter	stop gained	-	NC_000001.11:g.109298241C>T	gnomAD
rs200938847	p.Trp54Arg	missense variant	-	NC_000001.11:g.109298243A>G	ESP,ExAC,TOPMed,gnomAD
rs1211408113	p.Pro56Ser	missense variant	-	NC_000001.11:g.109298237G>A	TOPMed,gnomAD
rs201587393	p.Arg57Trp	missense variant	-	NC_000001.11:g.109298234G>A	ESP,ExAC,TOPMed,gnomAD
rs373762668	p.Arg57Gln	missense variant	-	NC_000001.11:g.109298233C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199935853	p.Ala58Val	missense variant	-	NC_000001.11:g.109298230G>A	1000Genomes,ExAC,gnomAD
rs750314990	p.Ala58Pro	missense variant	-	NC_000001.11:g.109298231C>G	ExAC,TOPMed,gnomAD
rs750314990	p.Ala58Ser	missense variant	-	NC_000001.11:g.109298231C>A	ExAC,TOPMed,gnomAD
rs199935853	p.Ala58Gly	missense variant	-	NC_000001.11:g.109298230G>C	1000Genomes,ExAC,gnomAD
rs370683131	p.Arg60Lys	missense variant	-	NC_000001.11:g.109298224C>T	ESP,ExAC,TOPMed,gnomAD
rs376631272	p.Arg60Ser	missense variant	-	NC_000001.11:g.109298223C>A	ESP,ExAC,TOPMed,gnomAD
rs145366916	p.Ile64Thr	missense variant	-	NC_000001.11:g.109298212A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146641385	p.Arg65Trp	missense variant	-	NC_000001.11:g.109298210G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs765712022	p.Arg65Gln	missense variant	-	NC_000001.11:g.109298209C>T	ExAC,TOPMed,gnomAD
rs760141545	p.Lys66Gln	missense variant	-	NC_000001.11:g.109298207T>G	ExAC,gnomAD
rs761060012	p.Val67Ala	missense variant	-	NC_000001.11:g.109298203A>G	ExAC,TOPMed,gnomAD
rs201113761	p.Val67Phe	missense variant	-	NC_000001.11:g.109298204C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs773929882	p.Gly68Ala	missense variant	-	NC_000001.11:g.109298200C>G	ExAC,gnomAD
rs1411478013	p.Asp69Asn	missense variant	-	NC_000001.11:g.109298198C>T	TOPMed
NCI-TCGA novel	p.Asp69Tyr	missense variant	-	NC_000001.11:g.109298198C>A	NCI-TCGA
rs1027108408	p.Val71Gly	missense variant	-	NC_000001.11:g.109298191A>C	TOPMed,gnomAD
rs748802579	p.Asn72Lys	missense variant	-	NC_000001.11:g.109298187G>T	ExAC,gnomAD
rs775091548	p.Leu73Arg	missense variant	-	NC_000001.11:g.109298185A>C	ExAC,gnomAD
rs1437063175	p.Leu74Pro	missense variant	-	NC_000001.11:g.109298182A>G	TOPMed
rs1211993521	p.Ile75Leu	missense variant	-	NC_000001.11:g.109298180T>G	gnomAD
rs769257346	p.Gln78Leu	missense variant	-	NC_000001.11:g.109298170T>A	ExAC,gnomAD
rs767729123	p.Pro81Thr	missense variant	-	NC_000001.11:g.109297611G>T	ExAC,gnomAD
COSM3862115	p.Pro83Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.109297604G>A	NCI-TCGA Cosmic
rs774942604	p.Ile86Leu	missense variant	-	NC_000001.11:g.109297596T>G	ExAC,gnomAD
rs1326047809	p.Ile86Thr	missense variant	-	NC_000001.11:g.109297595A>G	gnomAD
rs774942604	p.Ile86Val	missense variant	-	NC_000001.11:g.109297596T>C	ExAC,gnomAD
rs1190498937	p.Trp87Ter	stop gained	-	NC_000001.11:g.109297591C>T	TOPMed
rs1352200219	p.His89Tyr	missense variant	-	NC_000001.11:g.109297587G>A	gnomAD
rs540252437	p.Asp90Glu	missense variant	-	NC_000001.11:g.109297582A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs770825563	p.Gly91Ser	missense variant	-	NC_000001.11:g.109297581C>T	ExAC,TOPMed,gnomAD
rs777645184	p.Leu94Phe	missense variant	-	NC_000001.11:g.109297570C>A	ExAC,gnomAD
rs746828107	p.Leu94Ser	missense variant	-	NC_000001.11:g.109297571A>G	ExAC,gnomAD
rs1253861188	p.Thr96Ser	missense variant	-	NC_000001.11:g.109297565G>C	TOPMed,gnomAD
rs1253861188	p.Thr96Ile	missense variant	-	NC_000001.11:g.109297565G>A	TOPMed,gnomAD
rs1479707049	p.Arg97Met	missense variant	-	NC_000001.11:g.109297562C>A	gnomAD
rs758086173	p.Arg97Gly	missense variant	-	NC_000001.11:g.109297563T>C	ExAC,gnomAD
rs779216234	p.Arg98His	missense variant	-	NC_000001.11:g.109297559C>T	ExAC,TOPMed,gnomAD
rs374366281	p.Arg98Cys	missense variant	-	NC_000001.11:g.109297560G>A	ESP,ExAC,TOPMed,gnomAD
rs755163694	p.Val99Met	missense variant	-	NC_000001.11:g.109297557C>T	ExAC,gnomAD
rs1278704400	p.Val99Ala	missense variant	-	NC_000001.11:g.109297556A>G	gnomAD
rs755163694	p.Val99Leu	missense variant	-	NC_000001.11:g.109297557C>G	ExAC,gnomAD
rs753958230	p.Ser100Gly	missense variant	-	NC_000001.11:g.109297554T>C	ExAC,gnomAD
rs753958230	p.Ser100Cys	missense variant	-	NC_000001.11:g.109297554T>A	ExAC,gnomAD
rs76186504	p.Arg102Gln	missense variant	-	NC_000001.11:g.109297547C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs951601275	p.Arg102Trp	missense variant	-	NC_000001.11:g.109297548G>A	TOPMed,gnomAD
rs369981170	p.Asn103Asp	missense variant	-	NC_000001.11:g.109297545T>C	ESP,ExAC,gnomAD
rs143276725	p.Asn103Ser	missense variant	-	NC_000001.11:g.109297544T>C	ESP,ExAC,TOPMed,gnomAD
rs762028487	p.Glu105Asp	missense variant	-	NC_000001.11:g.109297537C>G	ExAC,TOPMed
rs1442900581	p.Glu105Lys	missense variant	-	NC_000001.11:g.109297539C>T	gnomAD
rs183846230	p.Gln106Pro	missense variant	-	NC_000001.11:g.109297535T>G	1000Genomes,ExAC,gnomAD
rs764867024	p.Asp107Ala	missense variant	-	NC_000001.11:g.109297532T>G	ExAC,gnomAD
rs139418658	p.Asp107Tyr	missense variant	-	NC_000001.11:g.109297533C>A	1000Genomes
rs764867024	p.Asp107Val	missense variant	-	NC_000001.11:g.109297532T>A	ExAC,gnomAD
rs1046623306	p.Ser108Phe	missense variant	-	NC_000001.11:g.109297529G>A	TOPMed
rs776097295	p.Leu110Val	missense variant	-	NC_000001.11:g.109297524G>C	ExAC,TOPMed,gnomAD
rs776097295	p.Leu110Phe	missense variant	-	NC_000001.11:g.109297524G>A	ExAC,TOPMed,gnomAD
rs1220557674	p.Phe111Leu	missense variant	-	NC_000001.11:g.109297521A>G	TOPMed
rs146491588	p.Ile112Val	missense variant	-	NC_000001.11:g.109297518T>C	ESP,TOPMed,gnomAD
rs191294010	p.Arg113Gly	missense variant	-	NC_000001.11:g.109297515G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs964166476	p.Arg113Gln	missense variant	-	NC_000001.11:g.109297514C>T	TOPMed
rs191294010	p.Arg113Ter	stop gained	-	NC_000001.11:g.109297515G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772954453	p.Ala115Val	missense variant	-	NC_000001.11:g.109297508G>A	ExAC,gnomAD
rs1410285152	p.Ala115Pro	missense variant	-	NC_000001.11:g.109297509C>G	gnomAD
rs771911866	p.Gln116Arg	missense variant	-	NC_000001.11:g.109297505T>C	ExAC
rs199684187	p.Arg117His	missense variant	-	NC_000001.11:g.109297502C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs139190609	p.Arg117Cys	missense variant	-	NC_000001.11:g.109297503G>A	ESP,ExAC,TOPMed,gnomAD
rs142270824	p.Ala118Ser	missense variant	-	NC_000001.11:g.109297500C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1411879521	p.Asp119Asn	missense variant	-	NC_000001.11:g.109297497C>T	TOPMed
rs1260460612	p.Ser120Leu	missense variant	-	NC_000001.11:g.109297493G>A	gnomAD
rs1165902463	p.Gly121Ser	missense variant	-	NC_000001.11:g.109297491C>T	TOPMed
rs143926262	p.Arg122His	missense variant	-	NC_000001.11:g.109297487C>T	ESP,ExAC,TOPMed,gnomAD
rs147555110	p.Arg122Cys	missense variant	-	NC_000001.11:g.109297488G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374848112	p.Tyr123Ter	stop gained	-	NC_000001.11:g.109297483G>T	ESP,TOPMed,gnomAD
COSM117266	p.Gln124Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.109297481T>G	NCI-TCGA Cosmic
rs1001808480	p.Arg126His	missense variant	-	NC_000001.11:g.109297475C>T	gnomAD
rs112174652	p.Arg126Cys	missense variant	-	NC_000001.11:g.109297476G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs536262185	p.Val127Met	missense variant	-	NC_000001.11:g.109297473C>T	1000Genomes,ExAC,gnomAD
rs764919865	p.Gly130Asp	missense variant	-	NC_000001.11:g.109297463C>T	ExAC,gnomAD
rs759208438	p.Glu133Gln	missense variant	-	NC_000001.11:g.109297455C>G	ExAC,TOPMed,gnomAD
rs80157306	p.Ala134Thr	missense variant	-	NC_000001.11:g.109297452C>T	gnomAD
rs80157306	p.Ala134Pro	missense variant	-	NC_000001.11:g.109297452C>G	gnomAD
NCI-TCGA novel	p.Thr135Ala	missense variant	-	NC_000001.11:g.109297449T>C	NCI-TCGA
rs201690316	p.Ala136Thr	missense variant	-	NC_000001.11:g.109297446C>T	ExAC,TOPMed,gnomAD
rs912607471	p.Ile138Thr	missense variant	-	NC_000001.11:g.109297439A>G	TOPMed,gnomAD
rs1336895134	p.Ile140Thr	missense variant	-	NC_000001.11:g.109297433A>G	TOPMed
rs760044136	p.Leu141Pro	missense variant	-	NC_000001.11:g.109297430A>G	ExAC
rs773257330	p.Ile143Val	missense variant	-	NC_000001.11:g.109297425T>C	ExAC,gnomAD
rs773257330	p.Ile143Phe	missense variant	-	NC_000001.11:g.109297425T>A	ExAC,gnomAD
rs1484726879	p.Ile143Asn	missense variant	-	NC_000001.11:g.109297424A>T	gnomAD
rs1484726879	p.Ile143Thr	missense variant	-	NC_000001.11:g.109297424A>G	gnomAD
NCI-TCGA novel	p.Pro146Leu	missense variant	-	NC_000001.11:g.109297183G>A	NCI-TCGA
rs1169091574	p.Gly147Asp	missense variant	-	NC_000001.11:g.109297180C>T	gnomAD
COSM3470850	p.Pro149Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.109297174G>A	NCI-TCGA Cosmic
rs1451290409	p.Gln150Glu	missense variant	-	NC_000001.11:g.109297172G>C	TOPMed,gnomAD
rs776844669	p.Gln150Pro	missense variant	-	NC_000001.11:g.109297171T>G	ExAC,TOPMed,gnomAD
rs776844669	p.Gln150Arg	missense variant	-	NC_000001.11:g.109297171T>C	ExAC,TOPMed,gnomAD
rs747078263	p.Val155Ala	missense variant	-	NC_000001.11:g.109297156A>G	ExAC,gnomAD
rs373917531	p.Asp156Glu	missense variant	-	NC_000001.11:g.109297152G>C	ESP,ExAC,TOPMed,gnomAD
COSM423396	p.Asp156Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.109297154C>A	NCI-TCGA Cosmic
rs140919452	p.Val157Ile	missense variant	-	NC_000001.11:g.109297151C>T	ESP,ExAC,TOPMed,gnomAD
rs780889162	p.Trp158Ter	stop gained	-	NC_000001.11:g.109297146C>T	ExAC,TOPMed,gnomAD
rs745524301	p.Trp158Arg	missense variant	-	NC_000001.11:g.109297148A>G	ExAC,gnomAD
RCV000190200	p.Gly159Ser	missense variant	Long QT syndrome (LQTS)	NC_000001.11:g.109297145C>T	ClinVar
rs796052188	p.Gly159Ser	missense variant	-	NC_000001.11:g.109297145C>T	-
rs746292270	p.Ala162Thr	missense variant	-	NC_000001.11:g.109297136C>T	ExAC,TOPMed,gnomAD
rs764945362	p.Leu164Met	missense variant	-	NC_000001.11:g.109297130G>T	ExAC,gnomAD
rs759315868	p.Leu164Pro	missense variant	-	NC_000001.11:g.109297129A>G	ExAC,gnomAD
rs1461862561	p.Glu165Ala	missense variant	-	NC_000001.11:g.109297126T>G	TOPMed
rs1252427866	p.Thr167Ile	missense variant	-	NC_000001.11:g.109297120G>A	gnomAD
rs766582821	p.Pro168Arg	missense variant	-	NC_000001.11:g.109297117G>C	ExAC,TOPMed,gnomAD
rs766582821	p.Pro168Leu	missense variant	-	NC_000001.11:g.109297117G>A	ExAC,TOPMed,gnomAD
rs1282144886	p.Pro169Ser	missense variant	-	NC_000001.11:g.109297115G>A	TOPMed,gnomAD
rs1243134747	p.Pro169Leu	missense variant	-	NC_000001.11:g.109297114G>A	TOPMed
rs1344904966	p.Asp171Glu	missense variant	-	NC_000001.11:g.109297107A>T	gnomAD
COSM4823049	p.Asp171His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.109297109C>G	NCI-TCGA Cosmic
rs772088680	p.Thr172Met	missense variant	-	NC_000001.11:g.109297105G>A	ExAC,TOPMed,gnomAD
rs768962052	p.Asn174Ser	missense variant	-	NC_000001.11:g.109297099T>C	ExAC,gnomAD
rs1351713001	p.Thr175Ile	missense variant	-	NC_000001.11:g.109297096G>A	gnomAD
rs1204001525	p.Ala176Val	missense variant	-	NC_000001.11:g.109297093G>A	TOPMed
rs749662824	p.Ala176Thr	missense variant	-	NC_000001.11:g.109297094C>T	ExAC,gnomAD
rs1377688019	p.Leu177Val	missense variant	-	NC_000001.11:g.109297091G>C	gnomAD
rs1448318685	p.Leu177Arg	missense variant	-	NC_000001.11:g.109297090A>C	TOPMed
COSM6120117	p.Tyr180Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.109297081T>A	NCI-TCGA Cosmic
rs200935635	p.Thr181Met	missense variant	-	NC_000001.11:g.109297078G>A	ExAC,gnomAD
COSM3984062	p.Thr181Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.109297078G>C	NCI-TCGA Cosmic
rs1256465331	p.Ala185Val	missense variant	-	NC_000001.11:g.109297066G>A	TOPMed
rs1475504339	p.Lys188Asn	missense variant	-	NC_000001.11:g.109297056T>A	TOPMed
rs372747640	p.Gly190Arg	missense variant	-	NC_000001.11:g.109297052C>G	ESP,ExAC,TOPMed,gnomAD
rs1389914198	p.Gly190Ala	missense variant	-	NC_000001.11:g.109297051C>G	gnomAD
rs372747640	p.Gly190Arg	missense variant	-	NC_000001.11:g.109297052C>T	ESP,ExAC,TOPMed,gnomAD
rs969138875	p.Leu191Val	missense variant	-	NC_000001.11:g.109296942G>C	TOPMed
rs767725276	p.Trp192Ter	stop gained	-	NC_000001.11:g.109296938C>T	ExAC,TOPMed,gnomAD
rs1182662210	p.Trp192Arg	missense variant	-	NC_000001.11:g.109296939A>G	TOPMed
rs550975134	p.Thr194Met	missense variant	-	NC_000001.11:g.109296932G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs951118317	p.Glu197Val	missense variant	-	NC_000001.11:g.109296923T>A	TOPMed
rs1437020454	p.His198Arg	missense variant	-	NC_000001.11:g.109296920T>C	TOPMed
rs776076034	p.Tyr199Phe	missense variant	-	NC_000001.11:g.109296917T>A	ExAC,TOPMed,gnomAD
rs141518010	p.Arg201Pro	missense variant	-	NC_000001.11:g.109296911C>G	ESP,ExAC,TOPMed,gnomAD
rs141518010	p.Arg201His	missense variant	-	NC_000001.11:g.109296911C>T	ESP,ExAC,TOPMed,gnomAD
rs4384262	p.Arg201Cys	missense variant	-	NC_000001.11:g.109296912G>A	ExAC,TOPMed,gnomAD
rs1351059109	p.Thr202Ala	missense variant	-	NC_000001.11:g.109296909T>C	gnomAD
rs1307108063	p.Thr202Ile	missense variant	-	NC_000001.11:g.109296908G>A	TOPMed
rs771100733	p.Ser203Arg	missense variant	-	NC_000001.11:g.109296904G>C	gnomAD
rs1409263434	p.Ile205Phe	missense variant	-	NC_000001.11:g.109296900T>A	gnomAD
rs771724099	p.Ile205Met	missense variant	-	NC_000001.11:g.109296898G>C	ExAC,TOPMed,gnomAD
rs142778245	p.Val206Ile	missense variant	-	NC_000001.11:g.109296897C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1279215275	p.Asp208Asn	missense variant	-	NC_000001.11:g.109296891C>T	TOPMed
rs372110491	p.Leu209Ile	missense variant	-	NC_000001.11:g.109296888G>T	ESP,ExAC,TOPMed,gnomAD
rs1489506872	p.Ile211Val	missense variant	-	NC_000001.11:g.109296882T>C	TOPMed,gnomAD
rs140827712	p.Gly212Ser	missense variant	-	NC_000001.11:g.109296879C>T	1000Genomes,ESP,TOPMed,gnomAD
rs891321603	p.Gly212Asp	missense variant	-	NC_000001.11:g.109296878C>T	TOPMed
rs1196368768	p.Asn213Ser	missense variant	-	NC_000001.11:g.109296875T>C	TOPMed
rs779957053	p.Tyr215His	missense variant	-	NC_000001.11:g.109296870A>G	ExAC,TOPMed,gnomAD
rs200779628	p.Tyr215Cys	missense variant	-	NC_000001.11:g.109296869T>C	ExAC,TOPMed,gnomAD
rs745636230	p.Arg218Cys	missense variant	-	NC_000001.11:g.109296861G>A	ExAC,gnomAD
rs151201446	p.Arg218His	missense variant	-	NC_000001.11:g.109296860C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757522364	p.Val219Ala	missense variant	-	NC_000001.11:g.109296857A>G	ExAC,gnomAD
NCI-TCGA novel	p.Val219Ile	missense variant	-	NC_000001.11:g.109296858C>T	NCI-TCGA
rs142259076	p.Phe220Ser	missense variant	-	NC_000001.11:g.109296854A>G	ESP,ExAC,gnomAD
rs1167099552	p.Ala221Pro	missense variant	-	NC_000001.11:g.109296852C>G	TOPMed
rs1293558044	p.Glu222Lys	missense variant	-	NC_000001.11:g.109296849C>T	gnomAD
rs757818854	p.Cys225Trp	missense variant	-	NC_000001.11:g.109296838G>C	ExAC,TOPMed,gnomAD
rs372851526	p.Gly226Val	missense variant	-	NC_000001.11:g.109296836C>A	ESP,ExAC,TOPMed,gnomAD
rs372851526	p.Gly226Glu	missense variant	-	NC_000001.11:g.109296836C>T	ESP,ExAC,TOPMed,gnomAD
rs368090769	p.Gly226Arg	missense variant	-	NC_000001.11:g.109296837C>T	ESP,ExAC,TOPMed,gnomAD
rs368090769	p.Gly226Arg	missense variant	-	NC_000001.11:g.109296837C>G	ESP,ExAC,TOPMed,gnomAD
rs1438145886	p.Glu229Gln	missense variant	-	NC_000001.11:g.109296828C>G	TOPMed
rs1044991568	p.Thr230Ile	missense variant	-	NC_000001.11:g.109296824G>A	TOPMed
rs766599816	p.Ala231Val	missense variant	-	NC_000001.11:g.109296821G>A	ExAC,gnomAD
rs1426022396	p.Pro232Ser	missense variant	-	NC_000001.11:g.109296819G>A	gnomAD
rs773805544	p.Ile233Asn	missense variant	-	NC_000001.11:g.109296815A>T	ExAC,TOPMed,gnomAD
rs947863275	p.Thr234Ala	missense variant	-	NC_000001.11:g.109296813T>C	TOPMed
rs775449157	p.Thr235Met	missense variant	-	NC_000001.11:g.109296809G>A	ExAC,TOPMed,gnomAD
rs762448870	p.Thr235Ala	missense variant	-	NC_000001.11:g.109296810T>C	ExAC,gnomAD
rs775449157	p.Thr235Arg	missense variant	-	NC_000001.11:g.109296809G>C	ExAC,TOPMed,gnomAD
rs745760901	p.Leu237Phe	missense variant	-	NC_000001.11:g.109296804G>A	ExAC,TOPMed,gnomAD
rs374955860	p.Ala238Thr	missense variant	-	NC_000001.11:g.109296801C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1172963695	p.His239Tyr	missense variant	-	NC_000001.11:g.109296798G>A	TOPMed
rs747269299	p.Ile240Asn	missense variant	-	NC_000001.11:g.109296794A>T	ExAC,gnomAD
rs1367261256	p.Ile240Val	missense variant	-	NC_000001.11:g.109296795T>C	TOPMed
rs777846742	p.Gln241Ter	stop gained	-	NC_000001.11:g.109296792G>A	ExAC,TOPMed,gnomAD
rs758616200	p.Gln241Arg	missense variant	-	NC_000001.11:g.109296791T>C	ExAC,TOPMed
rs768911598	p.Ala244Val	missense variant	-	NC_000001.11:g.109296370G>A	ExAC,TOPMed,gnomAD
rs768911598	p.Ala244Asp	missense variant	-	NC_000001.11:g.109296370G>T	ExAC,TOPMed,gnomAD
rs752791583	p.Ala244Thr	missense variant	-	NC_000001.11:g.109296783C>T	ExAC,gnomAD
rs1263627101	p.Tyr247Ser	missense variant	-	NC_000001.11:g.109296361T>G	gnomAD
rs1246818654	p.Lys248Arg	missense variant	-	NC_000001.11:g.109296358T>C	TOPMed,gnomAD
rs749321692	p.Thr249Ala	missense variant	-	NC_000001.11:g.109296356T>C	ExAC,gnomAD
rs780662409	p.Lys250Arg	missense variant	-	NC_000001.11:g.109296352T>C	ExAC,TOPMed,gnomAD
rs896422019	p.Lys250Ter	stop gained	-	NC_000001.11:g.109296353T>A	TOPMed,gnomAD
rs896422019	p.Lys250Glu	missense variant	-	NC_000001.11:g.109296353T>C	TOPMed,gnomAD
rs756605087	p.Gly251Ala	missense variant	-	NC_000001.11:g.109296349C>G	ExAC,gnomAD
rs200868923	p.Arg255Gln	missense variant	-	NC_000001.11:g.109296337C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs139849511	p.Arg255Ter	stop gained	-	NC_000001.11:g.109296338G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3360203	p.Asp256His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.109296335C>G	NCI-TCGA Cosmic
rs1372915616	p.Phe257Tyr	missense variant	-	NC_000001.11:g.109296331A>T	gnomAD
COSM893491	p.Phe257Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.109296330G>T	NCI-TCGA Cosmic
rs752406530	p.Ser258Pro	missense variant	-	NC_000001.11:g.109296329A>G	ExAC,TOPMed,gnomAD
rs754554091	p.Ala260Asp	missense variant	-	NC_000001.11:g.109296322G>T	ExAC,gnomAD
rs764867005	p.Ala260Thr	missense variant	-	NC_000001.11:g.109296323C>T	ExAC,TOPMed,gnomAD
rs1467644994	p.Pro261Gln	missense variant	-	NC_000001.11:g.109296319G>T	gnomAD
rs753264112	p.Pro261Ala	missense variant	-	NC_000001.11:g.109296320G>C	ExAC,gnomAD
rs1473528387	p.Lys262Gln	missense variant	-	NC_000001.11:g.109296317T>G	gnomAD
rs1264608583	p.Lys262Asn	missense variant	-	NC_000001.11:g.109296315C>A	TOPMed,gnomAD
rs1239722280	p.Phe263Ser	missense variant	-	NC_000001.11:g.109296313A>G	gnomAD
NCI-TCGA novel	p.Phe263ValPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.109296318_109296319insG	NCI-TCGA
rs1038122707	p.Thr264Ser	missense variant	-	NC_000001.11:g.109296310G>C	TOPMed,gnomAD
rs765863415	p.Thr264Pro	missense variant	-	NC_000001.11:g.109296311T>G	ExAC,gnomAD
rs941122942	p.Gln265Glu	missense variant	-	NC_000001.11:g.109296308G>C	TOPMed
rs142989328	p.Pro266His	missense variant	-	NC_000001.11:g.109296304G>T	ESP,ExAC,TOPMed,gnomAD
rs557627908	p.Pro266Ser	missense variant	-	NC_000001.11:g.109296305G>A	1000Genomes,ExAC,gnomAD
rs1383120656	p.Leu267Val	missense variant	-	NC_000001.11:g.109296302G>C	TOPMed
rs1400277125	p.Ala268Asp	missense variant	-	NC_000001.11:g.109296298G>T	TOPMed
rs629001	p.Asp269Asn	missense variant	-	NC_000001.11:g.109296296C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs629001	p.Asp269His	missense variant	-	NC_000001.11:g.109296296C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768980743	p.Thr271Ala	missense variant	-	NC_000001.11:g.109296290T>C	ExAC,gnomAD
rs1293258597	p.Thr271Ile	missense variant	-	NC_000001.11:g.109296289G>A	TOPMed
rs749481449	p.Thr272Ala	missense variant	-	NC_000001.11:g.109296287T>C	ExAC,TOPMed
rs201047006	p.Val273Ala	missense variant	-	NC_000001.11:g.109296283A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs201047006	p.Val273Asp	missense variant	-	NC_000001.11:g.109296283A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs142341673	p.Gly275Ser	missense variant	-	NC_000001.11:g.109296278C>T	ESP,ExAC,TOPMed,gnomAD
rs781656373	p.Tyr276Cys	missense variant	-	NC_000001.11:g.109296274T>C	ExAC,TOPMed,gnomAD
rs1228957459	p.Thr278Ala	missense variant	-	NC_000001.11:g.109296269T>C	gnomAD
rs923047686	p.Thr278Ile	missense variant	-	NC_000001.11:g.109296268G>A	TOPMed
rs747346116	p.Cys283Tyr	missense variant	-	NC_000001.11:g.109296253C>T	ExAC,TOPMed,gnomAD
rs143483325	p.Arg285Pro	missense variant	-	NC_000001.11:g.109296247C>G	ESP,ExAC,TOPMed,gnomAD
rs143483325	p.Arg285His	missense variant	-	NC_000001.11:g.109296247C>T	ESP,ExAC,TOPMed,gnomAD
rs369197135	p.Arg285Cys	missense variant	-	NC_000001.11:g.109296248G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg285Gly	missense variant	-	NC_000001.11:g.109296248G>C	NCI-TCGA
rs745345803	p.Ala286Ser	missense variant	-	NC_000001.11:g.109296245C>A	ExAC,TOPMed,gnomAD
rs745345803	p.Ala286Thr	missense variant	-	NC_000001.11:g.109296245C>T	ExAC,TOPMed,gnomAD
rs1210494746	p.Pro288Ser	missense variant	-	NC_000001.11:g.109296239G>A	gnomAD
rs763912500	p.Arg289Trp	missense variant	-	NC_000001.11:g.109296236G>A	ExAC,TOPMed,gnomAD
rs138548862	p.Arg289Gln	missense variant	-	NC_000001.11:g.109296235C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142219130	p.Pro290Ser	missense variant	-	NC_000001.11:g.109295297G>A	ESP
rs761170978	p.Ile293Thr	missense variant	-	NC_000001.11:g.109295287A>G	ExAC,gnomAD
rs147013243	p.Asn297Lys	missense variant	-	NC_000001.11:g.109295274G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772378066	p.Met299Ile	missense variant	-	NC_000001.11:g.109295268C>T	ExAC,gnomAD
rs1227042399	p.Met299Val	missense variant	-	NC_000001.11:g.109295270T>C	gnomAD
rs1342760665	p.Gln302His	missense variant	-	NC_000001.11:g.109295259T>G	gnomAD
rs1285128539	p.Gln302Arg	missense variant	-	NC_000001.11:g.109295260T>C	gnomAD
NCI-TCGA novel	p.Gly303Asp	missense variant	-	NC_000001.11:g.109295257C>T	NCI-TCGA
rs748540136	p.Pro305Arg	missense variant	-	NC_000001.11:g.109295251G>C	ExAC,gnomAD
rs1239164594	p.Lys306Glu	missense variant	-	NC_000001.11:g.109295249T>C	TOPMed
rs754146555	p.TyrArg307Ter	stop gained	-	NC_000001.11:g.109295244_109295245del	ExAC,gnomAD
COSM1332441	p.Tyr307Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.109295245T>C	NCI-TCGA Cosmic
rs1299811668	p.Ala309Val	missense variant	-	NC_000001.11:g.109295239G>A	TOPMed,gnomAD
rs998599876	p.Thr311Ser	missense variant	-	NC_000001.11:g.109295234T>A	TOPMed
rs72703216	p.His312Tyr	missense variant	-	NC_000001.11:g.109295231G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1388642575	p.Glu319Asp	missense variant	-	NC_000001.11:g.109295208C>A	gnomAD
rs745479245	p.Arg321His	missense variant	-	NC_000001.11:g.109295203C>T	ExAC,TOPMed,gnomAD
rs187060263	p.Arg321Cys	missense variant	-	NC_000001.11:g.109295204G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs777512404	p.Pro323Leu	missense variant	-	NC_000001.11:g.109295197G>A	ExAC,TOPMed,gnomAD
rs1388539034	p.Gly324Val	missense variant	-	NC_000001.11:g.109295194C>A	gnomAD
rs1388539034	p.Gly324Asp	missense variant	-	NC_000001.11:g.109295194C>T	gnomAD
rs146381593	p.Phe326Ser	missense variant	-	NC_000001.11:g.109295188A>G	ESP,ExAC,TOPMed,gnomAD
rs1429897416	p.Asp327Asn	missense variant	-	NC_000001.11:g.109295186C>T	TOPMed,gnomAD
rs1220064059	p.Gly329Val	missense variant	-	NC_000001.11:g.109295179C>A	gnomAD
rs1291119403	p.Ile330Asn	missense variant	-	NC_000001.11:g.109295176A>T	gnomAD
rs764890258	p.Ile330Val	missense variant	-	NC_000001.11:g.109295177T>C	ExAC,gnomAD
rs1433245592	p.Lys334Glu	missense variant	-	NC_000001.11:g.109295165T>C	TOPMed
NCI-TCGA novel	p.Lys334LeuPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.109295165_109295166insGCAGGTATAGAAG	NCI-TCGA
rs139001634	p.Ala335Glu	missense variant	-	NC_000001.11:g.109295161G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139001634	p.Ala335Val	missense variant	-	NC_000001.11:g.109295161G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371838903	p.Asn337Lys	missense variant	-	NC_000001.11:g.109295154G>T	ESP,ExAC,TOPMed,gnomAD
rs377658286	p.Pro338Ser	missense variant	-	NC_000001.11:g.109295153G>A	gnomAD
rs148219864	p.Pro338His	missense variant	-	NC_000001.11:g.109295152G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148219864	p.Pro338Leu	missense variant	-	NC_000001.11:g.109295152G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148219864	p.Pro338Arg	missense variant	-	NC_000001.11:g.109295152G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769077063	p.Leu339Gln	missense variant	-	NC_000001.11:g.109295149A>T	ExAC,gnomAD
rs776410764	p.Gly340Arg	missense variant	-	NC_000001.11:g.109295147C>T	ExAC,TOPMed,gnomAD
rs776410764	p.Gly340Trp	missense variant	-	NC_000001.11:g.109295147C>A	ExAC,TOPMed,gnomAD
rs1351532259	p.Ala342Thr	missense variant	-	NC_000001.11:g.109295141C>T	TOPMed,gnomAD
rs1355640090	p.Ala342Glu	missense variant	-	NC_000001.11:g.109295140G>T	TOPMed
rs367696296	p.Ser343Pro	missense variant	-	NC_000001.11:g.109295138A>G	ESP,ExAC,gnomAD
rs1231777768	p.Val344Ala	missense variant	-	NC_000001.11:g.109295134A>G	TOPMed
rs1368403881	p.Cys346Ser	missense variant	-	NC_000001.11:g.109295128C>G	gnomAD
rs758385359	p.Arg347Gln	missense variant	-	NC_000001.11:g.109295125C>T	ExAC,TOPMed,gnomAD
rs777623862	p.Arg347Trp	missense variant	-	NC_000001.11:g.109295126G>A	ExAC,TOPMed,gnomAD
rs758385359	p.Arg347Pro	missense variant	-	NC_000001.11:g.109295125C>G	ExAC,TOPMed,gnomAD
rs747993127	p.Val348Met	missense variant	-	NC_000001.11:g.109295123C>T	ExAC,gnomAD
rs778770245	p.Val350Ala	missense variant	-	NC_000001.11:g.109295116A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys351Gln	missense variant	-	NC_000001.11:g.109295114T>G	NCI-TCGA
rs986151299	p.Val352Ile	missense variant	-	NC_000001.11:g.109295111C>T	TOPMed,gnomAD
rs902692350	p.Pro353Ala	missense variant	-	NC_000001.11:g.109294247G>C	TOPMed,gnomAD
rs902692350	p.Pro353Thr	missense variant	-	NC_000001.11:g.109294247G>T	TOPMed,gnomAD
rs1355166051	p.Ter355Trp	stop lost	-	NC_000001.11:g.109294239T>C	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0021704	Intelligence	phenotype	GWASCAT
C0202117	Low density lipoprotein cholesterol measurement	phenotype	GWASDB
C1445957	Serum total cholesterol measurement	phenotype	GWASDB

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003674	molecular_function	ND
GO:0005515	protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001701	in utero embryonic development	IEA
GO:0008150	biological_process	ND

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005575	cellular_component	ND

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of MYBPHL exon	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of MYBPHL intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of MYBPHL mRNA	22228805
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in decreased expression of MYBPHL mRNA	26377693
C026487	benzo(e)pyrene	benzo(e)pyrene results in increased methylation of MYBPHL exon	30157460
C072553	benzyloxycarbonylleucyl-leucyl-leucine aldehyde	benzyloxycarbonylleucyl-leucyl-leucine aldehyde results in decreased expression of MYBPHL mRNA	25566086
C072553	benzyloxycarbonylleucyl-leucyl-leucine aldehyde	MYBPC3 protein affects the reaction [benzyloxycarbonylleucyl-leucyl-leucine aldehyde results in decreased expression of MYBPHL mRNA]	25566086
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of MYBPHL mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of MYBPHL mRNA	25181051
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of MYBPHL mRNA	24386269
D003471	Cuprizone	Cuprizone results in decreased expression of MYBPHL mRNA	27523638
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of MYBPHL mRNA	21266533
C039281	furan	furan results in decreased expression of MYBPHL mRNA	25539665
C039281	furan	furan results in increased methylation of MYBPHL gene	22079235
D008701	Methapyrilene	Methapyrilene results in increased methylation of MYBPHL exon	30157460
D009151	Mustard Gas	Mustard Gas results in increased expression of MYBPHL mRNA	25102026
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of MYBPHL mRNA	30529165
D000077210	Sunitinib	Sunitinib results in increased expression of MYBPHL mRNA	31533062
C009495	titanium dioxide	titanium dioxide results in decreased expression of MYBPHL mRNA	23557971
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of MYBPHL mRNA	20133372
D014260	Triclosan	Triclosan results in decreased expression of MYBPHL mRNA	30510588
D014520	Urethane	Urethane results in decreased expression of MYBPHL mRNA	28818685
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of MYBPHL gene	25560391
C025643	vinclozolin	vinclozolin results in increased expression of MYBPHL mRNA	20566332

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0963	Cytoplasm
KW-1015	Disulfide bond
KW-0393	Immunoglobulin domain
KW-0488	Methylation
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat

Interpro

InterPro ID	InterPro Term
IPR003961	FN3_dom
IPR036116	FN3_sf
IPR007110	Ig-like_dom
IPR036179	Ig-like_dom_sf
IPR013783	Ig-like_fold
IPR013098	Ig_I-set
IPR003599	Ig_sub
IPR003598	Ig_sub2

PROSITE

PROSITE ID	PROSITE Term
PS50853	FN3
PS50835	IG_LIKE

Pfam

Pfam ID	Pfam Term
PF00041	fn3
PF07679	I-set

Gene: MYBPHL

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