CleftGeneDB-Search

Gene: LACTB

Basic information

Tag	Content
Uniprot ID	P83111; P83096;
Entrez ID	114294
Genbank protein ID	AAH67288.1; AAQ89072.1; BAB55384.1;
Genbank nucleotide ID	NM_001288585.1; NM_032857.4; NM_171846.3;
Ensembl protein ID	ENSP00000392956; ENSP00000261893;
Ensembl nucleotide ID	ENSG00000103642
Gene name	Serine beta-lactamase-like protein LACTB, mitochondrial
Gene symbol	LACTB
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	26449438
Functional description	Mitochondrial serine protease that acts as a regulator of mitochondrial lipid metabolism (PubMed:28329758). Acts by decreasing protein levels of PISD, a mitochondrial enzyme that converts phosphatidylserine (PtdSer) to phosphatidylethanolamine (PtdEtn), thereby affecting mitochondrial lipid metabolism (PubMed:28329758). It is unclear whether it acts directly by mediating proteolysis of PISD or by mediating proteolysis of another lipid metabolism protein (PubMed:28329758). Acts as a tumor suppressor that has the ability to inhibit proliferation of multiple types of breast cancer cells: probably by promoting decreased levels of PISD, thereby affecting mitochondrial lipid metabolism (PubMed:28329758).
Sequence	MYRLMSAVTA RAAAPGGLAS SCGRRGVHQR AGLPPLGHGW VGGLGLGLGL ALGVKLAGGL 60 RGAAPAQSPA APDPEASPLA EPPQEQSLAP WSPQTPAPPC SRCFARAIES SRDLLHRIKD 120 EVGAPGIVVG VSVDGKEVWS EGLGYADVEN RVPCKPETVM RIASISKSLT MVALAKLWEA 180 GKLDLDIPVQ HYVPEFPEKE YEGEKVSVTT RLLISHLSGI RHYEKDIKKV KEEKAYKALK 240 MMKENVAFEQ EKEGKSNEKN DFTKFKTEQE NEAKCRNSKP GKKKNDFEQG ELYLREKFEN 300 SIESLRLFKN DPLFFKPGSQ FLYSTFGYTL LAAIVERASG CKYLDYMQKI FHDLDMLTTV 360 QEENEPVIYN RARFYVYNKK KRLVNTPYVD NSYKWAGGGF LSTVGDLLKF GNAMLYGYQV 420 GLFKNSNENL LPGYLKPETM VMMWTPVPNT EMSWDKEGKY AMAWGVVERK QTYGSCRKQR 480 HYASHTGGAV GASSVLLVLP EELDTETINN KVPPRGIIVS IICNMQSVGL NSTALKIALE 540 FDKDRSD 547

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	Species	Evidence	Details
1:1 ortholog	LACTB		P83095	Bos taurus	Prediction	More>>
1:1 ortholog	LACTB	102172902	A0A452GAH4	Capra hircus	Prediction	More>>
1:1 ortholog	LACTB	114294	P83111	Homo sapiens	Publication	More>>
1:1 ortholog	Lactb	80907	Q9EP89	Mus musculus	Prediction	More>>
1:1 ortholog	LACTB	453496	K7CYM3	Pan troglodytes	Prediction	More>>
1:1 ortholog	LACTB	100152773	F1S089	Sus scrofa	Prediction	More>>
1:1 ortholog	LACTB		G1SYC1	Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Lactb	300803	D3ZFJ6	Rattus norvegicus	Prediction	More>>
1:1 ortholog	lactb		F1QPG1	Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
LACTB	c.15C>T; p.M5I	WES and Sanger sequencing	26449438

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs745611187	p.Tyr2Phe	missense variant	-	NC_000015.10:g.63121876A>T	ExAC,gnomAD
rs1318497200	p.Tyr2Ter	stop gained	-	NC_000015.10:g.63121877C>A	gnomAD
rs1260013052	p.Arg3Gln	missense variant	-	NC_000015.10:g.63121879G>A	gnomAD
rs771795019	p.Arg3Trp	missense variant	-	NC_000015.10:g.63121878C>T	ExAC,TOPMed,gnomAD
rs775466256	p.Leu4Ile	missense variant	-	NC_000015.10:g.63121881C>A	ExAC,gnomAD
rs775466256	p.Leu4Phe	missense variant	-	NC_000015.10:g.63121881C>T	ExAC,gnomAD
rs34317102	p.Met5Leu	missense variant	-	NC_000015.10:g.63121884A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs556450517	p.Met5Ile	missense variant	-	NC_000015.10:g.63121886G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1453922185	p.Met5Thr	missense variant	-	NC_000015.10:g.63121885T>C	gnomAD
rs556450517	p.Met5Ile	missense variant	-	NC_000015.10:g.63121886G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1410523635	p.Ser6Ter	stop gained	-	NC_000015.10:g.63121888C>G	gnomAD
rs1410523635	p.Ser6Ter	stop gained	-	NC_000015.10:g.63121888C>A	gnomAD
rs1410523635	p.Ser6Leu	missense variant	-	NC_000015.10:g.63121888C>T	gnomAD
rs776188282	p.Ala7Glu	missense variant	-	NC_000015.10:g.63121891C>A	ExAC,gnomAD
rs1350934455	p.Thr9Ala	missense variant	-	NC_000015.10:g.63121896A>G	gnomAD
rs1368111153	p.Ala10Asp	missense variant	-	NC_000015.10:g.63121900C>A	gnomAD
rs1324528387	p.Ala10Thr	missense variant	-	NC_000015.10:g.63121899G>A	gnomAD
rs1368111153	p.Ala10Val	missense variant	-	NC_000015.10:g.63121900C>T	gnomAD
rs1019486651	p.Arg11Gln	missense variant	-	NC_000015.10:g.63121903G>A	TOPMed,gnomAD
rs761314159	p.Arg11Trp	missense variant	-	NC_000015.10:g.63121902C>T	ExAC,gnomAD
rs761314159	p.Arg11Gly	missense variant	-	NC_000015.10:g.63121902C>G	ExAC,gnomAD
rs764809586	p.Ala12Thr	missense variant	-	NC_000015.10:g.63121905G>A	ExAC,gnomAD
rs750094530	p.Ala13Thr	missense variant	-	NC_000015.10:g.63121908G>A	ExAC,TOPMed,gnomAD
rs1215464278	p.Ala13Val	missense variant	-	NC_000015.10:g.63121909C>T	gnomAD
rs767825159	p.Ala14Asp	missense variant	-	NC_000015.10:g.63121912C>A	ExAC,TOPMed,gnomAD
rs1234763364	p.Pro15Thr	missense variant	-	NC_000015.10:g.63121914C>A	gnomAD
rs1468824714	p.Pro15His	missense variant	-	NC_000015.10:g.63121915C>A	gnomAD
RCV000201410	p.Gly16Arg	missense variant	-	NC_000015.10:g.63121917G>C	ClinVar
rs34925488	p.Gly16Arg	missense variant	-	NC_000015.10:g.63121917G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs34925488	p.Gly16Arg	missense variant	-	NC_000015.10:g.63121917G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139879323	p.Gly17Ser	missense variant	-	NC_000015.10:g.63121920G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778350908	p.Gly17Asp	missense variant	-	NC_000015.10:g.63121921G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly17AlaPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.63121912C>-	NCI-TCGA
rs757436737	p.Ser21Thr	missense variant	-	NC_000015.10:g.63121933G>C	ExAC,gnomAD
rs753912650	p.Ser21Gly	missense variant	-	NC_000015.10:g.63121932A>G	ExAC,TOPMed,gnomAD
rs757436737	p.Ser21Asn	missense variant	-	NC_000015.10:g.63121933G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg24Gln	missense variant	-	NC_000015.10:g.63121942G>A	NCI-TCGA
rs34297800	p.Arg25Cys	missense variant	-	NC_000015.10:g.63121944C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs34297800	p.Arg25Ser	missense variant	-	NC_000015.10:g.63121944C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs926506385	p.Val27Ile	missense variant	-	NC_000015.10:g.63121950G>A	TOPMed
rs1439603440	p.Arg30Cys	missense variant	-	NC_000015.10:g.63121959C>T	gnomAD
rs1048982587	p.Leu33Val	missense variant	-	NC_000015.10:g.63121968C>G	TOPMed
rs779768860	p.Pro34Arg	missense variant	-	NC_000015.10:g.63121972C>G	ExAC,TOPMed,gnomAD
rs1409806641	p.Pro34Thr	missense variant	-	NC_000015.10:g.63121971C>A	TOPMed
rs1334088859	p.Gly37Asp	missense variant	-	NC_000015.10:g.63121981G>A	TOPMed,gnomAD
rs1291347840	p.Gly37Ser	missense variant	-	NC_000015.10:g.63121980G>A	TOPMed,gnomAD
rs1291347840	p.Gly37Arg	missense variant	-	NC_000015.10:g.63121980G>C	TOPMed,gnomAD
rs1487375349	p.His38Arg	missense variant	-	NC_000015.10:g.63121984A>G	TOPMed
rs768408264	p.Trp40Cys	missense variant	-	NC_000015.10:g.63121991G>T	ExAC,TOPMed,gnomAD
rs1275231905	p.Trp40Arg	missense variant	-	NC_000015.10:g.63121989T>A	gnomAD
rs768408264	p.Trp40Cys	missense variant	-	NC_000015.10:g.63121991G>C	ExAC,TOPMed,gnomAD
rs1330668515	p.Gly47Arg	missense variant	-	NC_000015.10:g.63122010G>C	TOPMed
rs1417685394	p.Ala51Val	missense variant	-	NC_000015.10:g.63122023C>T	gnomAD
rs1040216846	p.Ala51Ser	missense variant	-	NC_000015.10:g.63122022G>T	TOPMed,gnomAD
rs1454778096	p.Leu52Ile	missense variant	-	NC_000015.10:g.63122025C>A	gnomAD
rs901669698	p.Gly53Glu	missense variant	-	NC_000015.10:g.63122029G>A	gnomAD
rs761260684	p.Gly53Arg	missense variant	-	NC_000015.10:g.63122028G>A	ExAC,TOPMed,gnomAD
rs901669698	p.Gly53Ala	missense variant	-	NC_000015.10:g.63122029G>C	gnomAD
rs761260684	p.Gly53Trp	missense variant	-	NC_000015.10:g.63122028G>T	ExAC,TOPMed,gnomAD
rs761260684	p.Gly53Arg	missense variant	-	NC_000015.10:g.63122028G>C	ExAC,TOPMed,gnomAD
rs1421003653	p.Gly59Arg	missense variant	-	NC_000015.10:g.63122046G>A	gnomAD
rs1455519051	p.Arg61Gly	missense variant	-	NC_000015.10:g.63122052A>G	TOPMed
rs769320798	p.Ala64Gly	missense variant	-	NC_000015.10:g.63122062C>G	ExAC,TOPMed,gnomAD
rs1008166998	p.Pro65Leu	missense variant	-	NC_000015.10:g.63122065C>T	TOPMed
rs966582560	p.Ser68Cys	missense variant	-	NC_000015.10:g.63122074C>G	TOPMed,gnomAD
rs966582560	p.Ser68Phe	missense variant	-	NC_000015.10:g.63122074C>T	TOPMed,gnomAD
rs762573699	p.Ala70Glu	missense variant	-	NC_000015.10:g.63122080C>A	ExAC,gnomAD
rs772833685	p.Ala70Thr	missense variant	-	NC_000015.10:g.63122079G>A	ExAC,gnomAD
rs1214119006	p.Ala71Val	missense variant	-	NC_000015.10:g.63122083C>T	gnomAD
rs1337522339	p.Ala71Ser	missense variant	-	NC_000015.10:g.63122082G>T	gnomAD
rs1033334829	p.Pro72Leu	missense variant	-	NC_000015.10:g.63122086C>T	gnomAD
rs1434681792	p.Pro72Thr	missense variant	-	NC_000015.10:g.63122085C>A	gnomAD
rs1209124514	p.Asp73Asn	missense variant	-	NC_000015.10:g.63122088G>A	gnomAD
rs1257289041	p.Pro74Thr	missense variant	-	NC_000015.10:g.63122091C>A	gnomAD
rs959647146	p.Ser77Thr	missense variant	-	NC_000015.10:g.63122100T>A	TOPMed,gnomAD
rs1240934900	p.Leu79Val	missense variant	-	NC_000015.10:g.63122106C>G	TOPMed,gnomAD
rs1465997745	p.Ala80Thr	missense variant	-	NC_000015.10:g.63122109G>A	TOPMed
rs1371217657	p.Ala80Val	missense variant	-	NC_000015.10:g.63122110C>T	gnomAD
rs1474135633	p.Glu81Lys	missense variant	-	NC_000015.10:g.63122112G>A	TOPMed,gnomAD
rs1231666157	p.Gln84His	missense variant	-	NC_000015.10:g.63122123G>C	TOPMed
rs1258352731	p.Gln84Leu	missense variant	-	NC_000015.10:g.63122122A>T	TOPMed
rs1330933766	p.Ser87Pro	missense variant	-	NC_000015.10:g.63122130T>C	TOPMed
rs1395243046	p.Ala89Ser	missense variant	-	NC_000015.10:g.63122136G>T	gnomAD
rs767923145	p.Pro90Leu	missense variant	-	NC_000015.10:g.63122140C>T	ExAC,TOPMed,gnomAD
rs767923145	p.Pro90Arg	missense variant	-	NC_000015.10:g.63122140C>G	ExAC,TOPMed,gnomAD
rs761116317	p.Ser92Phe	missense variant	-	NC_000015.10:g.63122146C>T	ExAC,gnomAD
rs1324631782	p.Pro93Arg	missense variant	-	NC_000015.10:g.63122149C>G	gnomAD
rs1320187078	p.Pro93Thr	missense variant	-	NC_000015.10:g.63122148C>A	gnomAD
rs1320187078	p.Pro93Ala	missense variant	-	NC_000015.10:g.63122148C>G	gnomAD
rs931376974	p.Thr95Asn	missense variant	-	NC_000015.10:g.63122155C>A	TOPMed,gnomAD
rs757381709	p.Pro96Ser	missense variant	-	NC_000015.10:g.63122157C>T	ExAC,gnomAD
rs757381709	p.Pro96Thr	missense variant	-	NC_000015.10:g.63122157C>A	ExAC,gnomAD
rs943328168	p.Pro96Gln	missense variant	-	NC_000015.10:g.63122158C>A	TOPMed,gnomAD
rs943328168	p.Pro96Leu	missense variant	-	NC_000015.10:g.63122158C>T	TOPMed,gnomAD
rs1354862239	p.Ala97Val	missense variant	-	NC_000015.10:g.63122161C>T	gnomAD
rs1354862239	p.Ala97Glu	missense variant	-	NC_000015.10:g.63122161C>A	gnomAD
rs1282705282	p.Pro99Ser	missense variant	-	NC_000015.10:g.63122166C>T	gnomAD
rs750643781	p.Ser101Cys	missense variant	-	NC_000015.10:g.63122173C>G	ExAC,TOPMed,gnomAD
rs780326976	p.Cys103Tyr	missense variant	-	NC_000015.10:g.63122179G>A	ExAC,gnomAD
rs992430035	p.Cys103Trp	missense variant	-	NC_000015.10:g.63122180C>G	TOPMed
rs917770897	p.Ala105Val	missense variant	-	NC_000015.10:g.63122185C>T	TOPMed
rs1319732758	p.Ala105Ser	missense variant	-	NC_000015.10:g.63122184G>T	TOPMed,gnomAD
rs746721789	p.Arg106Gly	missense variant	-	NC_000015.10:g.63122187A>G	ExAC,gnomAD
rs781063730	p.Ala107Thr	missense variant	-	NC_000015.10:g.63122190G>A	ExAC,gnomAD
rs1382642791	p.Ile108Thr	missense variant	-	NC_000015.10:g.63122194T>C	gnomAD
rs1400065234	p.Ile108Met	missense variant	-	NC_000015.10:g.63122195C>G	TOPMed,gnomAD
rs1382642791	p.Ile108Ser	missense variant	-	NC_000015.10:g.63122194T>G	gnomAD
rs1160089168	p.Ile108Phe	missense variant	-	NC_000015.10:g.63122193A>T	TOPMed,gnomAD
rs748119566	p.Glu109Val	missense variant	-	NC_000015.10:g.63122197A>T	ExAC,gnomAD
rs1396751227	p.Ser110Gly	missense variant	-	NC_000015.10:g.63122199A>G	gnomAD
rs1344931866	p.Ser111Asn	missense variant	-	NC_000015.10:g.63122203G>A	TOPMed
rs1302936074	p.Asp113Tyr	missense variant	-	NC_000015.10:g.63122208G>T	gnomAD
rs748838431	p.His116Arg	missense variant	-	NC_000015.10:g.63122218A>G	ExAC,gnomAD
rs748838431	p.His116Leu	missense variant	-	NC_000015.10:g.63122218A>T	ExAC,gnomAD
rs201581882	p.Arg117Trp	missense variant	-	NC_000015.10:g.63122220A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201581882	p.Arg117Gly	missense variant	-	NC_000015.10:g.63122220A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1214827658	p.Ile118Val	missense variant	-	NC_000015.10:g.63122223A>G	gnomAD
rs1275670265	p.Lys119Asn	missense variant	-	NC_000015.10:g.63122228G>C	TOPMed,gnomAD
rs1236422103	p.Lys119Glu	missense variant	-	NC_000015.10:g.63122226A>G	gnomAD
rs1368705030	p.Val122Met	missense variant	-	NC_000015.10:g.63122642G>A	TOPMed
rs553328061	p.Gly123Ser	missense variant	-	NC_000015.10:g.63122645G>A	1000Genomes,ExAC,gnomAD
rs1229053497	p.Gly126Ser	missense variant	-	NC_000015.10:g.63122654G>A	gnomAD
rs1456599781	p.Ile127Met	missense variant	-	NC_000015.10:g.63122659A>G	TOPMed
rs775511153	p.Ile127Leu	missense variant	-	NC_000015.10:g.63122657A>T	ExAC,TOPMed,gnomAD
rs775511153	p.Ile127Val	missense variant	-	NC_000015.10:g.63122657A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val129LeuPheSerTerUnk	frameshift	-	NC_000015.10:g.63122662G>-	NCI-TCGA
NCI-TCGA novel	p.Val131Phe	missense variant	-	NC_000015.10:g.63122669G>T	NCI-TCGA
rs1211288563	p.Asp134Val	missense variant	-	NC_000015.10:g.63122679A>T	gnomAD
rs910930306	p.Asp134Asn	missense variant	-	NC_000015.10:g.63122678G>A	TOPMed
rs1259387551	p.Gly135Glu	missense variant	-	NC_000015.10:g.63122682G>A	gnomAD
NCI-TCGA novel	p.Glu137LysPheSerTerUnk	frameshift	-	NC_000015.10:g.63122683A>-	NCI-TCGA
NCI-TCGA novel	p.Glu137Lys	missense variant	-	NC_000015.10:g.63122687G>A	NCI-TCGA
rs1458834497	p.Ser140Ter	stop gained	-	NC_000015.10:g.63122697C>G	TOPMed
rs767735544	p.Glu141Asp	missense variant	-	NC_000015.10:g.63122701A>T	ExAC,gnomAD
rs759627744	p.Gly144Val	missense variant	-	NC_000015.10:g.63126865G>T	ExAC,gnomAD
rs1194766963	p.Gly144Ser	missense variant	-	NC_000015.10:g.63126864G>A	TOPMed
rs767680456	p.Ala146Thr	missense variant	-	NC_000015.10:g.63126870G>A	ExAC,gnomAD
rs1472079411	p.Asp147Glu	missense variant	-	NC_000015.10:g.63126875T>A	gnomAD
rs752950180	p.Asp147Val	missense variant	-	NC_000015.10:g.63126874A>T	ExAC,gnomAD
NCI-TCGA novel	p.Val148Phe	missense variant	-	NC_000015.10:g.63126876G>T	NCI-TCGA
rs1444806023	p.Glu149Gln	missense variant	-	NC_000015.10:g.63126879G>C	TOPMed
rs1347424920	p.Glu149Asp	missense variant	-	NC_000015.10:g.63126881G>C	gnomAD
rs760433188	p.Arg151His	missense variant	-	NC_000015.10:g.63126886G>A	ExAC,TOPMed,gnomAD
rs528872860	p.Val152Ile	missense variant	-	NC_000015.10:g.63126888G>A	1000Genomes
rs1387240178	p.Pro153Ala	missense variant	-	NC_000015.10:g.63126891C>G	gnomAD
rs1419045863	p.Cys154Trp	missense variant	-	NC_000015.10:g.63126896T>G	gnomAD
rs1261729823	p.Lys155Glu	missense variant	-	NC_000015.10:g.63126897A>G	TOPMed
rs1368336615	p.Glu157Asp	missense variant	-	NC_000015.10:g.63126905G>C	gnomAD
rs994505528	p.Glu157Ala	missense variant	-	NC_000015.10:g.63126904A>C	gnomAD
rs994505528	p.Glu157Gly	missense variant	-	NC_000015.10:g.63126904A>G	gnomAD
rs1223247483	p.Thr158Ile	missense variant	-	NC_000015.10:g.63126907C>T	TOPMed
rs1218382630	p.Met160Thr	missense variant	-	NC_000015.10:g.63126913T>C	gnomAD
rs1318554352	p.Arg161Gln	missense variant	-	NC_000015.10:g.63126916G>A	gnomAD
rs763998435	p.Arg161Ter	stop gained	-	NC_000015.10:g.63126915C>T	ExAC,TOPMed,gnomAD
rs141345466	p.Ala163Val	missense variant	-	NC_000015.10:g.63126922C>T	ESP
rs1213516285	p.Ser164Gly	missense variant	-	NC_000015.10:g.63126924A>G	gnomAD
rs1428842499	p.Ser166Arg	missense variant	-	NC_000015.10:g.63126930A>C	TOPMed
rs753707105	p.Lys167Glu	missense variant	-	NC_000015.10:g.63126933A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser168ValPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.63126933A>-	NCI-TCGA
NCI-TCGA novel	p.Leu169Ile	missense variant	-	NC_000015.10:g.63126939C>A	NCI-TCGA
NCI-TCGA novel	p.Leu169HisPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.63126933_63126934AA>-	NCI-TCGA
rs1408206470	p.Met171Ile	missense variant	-	NC_000015.10:g.63126947G>C	TOPMed
rs1215652228	p.Met171Val	missense variant	-	NC_000015.10:g.63126945A>G	TOPMed,gnomAD
rs757284857	p.Ala175Pro	missense variant	-	NC_000015.10:g.63126957G>C	ExAC,gnomAD
rs1488296899	p.Lys176Thr	missense variant	-	NC_000015.10:g.63126961A>C	TOPMed,gnomAD
rs778720573	p.Leu177Val	missense variant	-	NC_000015.10:g.63126963T>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly181Arg	missense variant	-	NC_000015.10:g.63126975G>A	NCI-TCGA
NCI-TCGA novel	p.Leu185Ile	missense variant	-	NC_000015.10:g.63126987C>A	NCI-TCGA
rs1020479854	p.Pro188Leu	missense variant	-	NC_000015.10:g.63126997C>T	TOPMed,gnomAD
rs753526102	p.Pro188Ser	missense variant	-	NC_000015.10:g.63126996C>T	ExAC,gnomAD
rs1327364159	p.Val189Ala	missense variant	-	NC_000015.10:g.63127000T>C	gnomAD
rs779810437	p.Val189Ile	missense variant	-	NC_000015.10:g.63126999G>A	ExAC,TOPMed,gnomAD
rs1347702142	p.Val193Ile	missense variant	-	NC_000015.10:g.63127011G>A	gnomAD
rs746697600	p.Glu195Lys	missense variant	-	NC_000015.10:g.63127017G>A	ExAC,TOPMed,gnomAD
rs376443763	p.Glu200Val	missense variant	-	NC_000015.10:g.63127033A>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu200Ter	stop gained	-	NC_000015.10:g.63127032G>T	NCI-TCGA
rs76611228	p.Tyr201Ter	stop gained	-	NC_000015.10:g.63127037T>G	1000Genomes,gnomAD
rs1319073824	p.Tyr201Cys	missense variant	-	NC_000015.10:g.63127036A>G	TOPMed
rs1260320609	p.Glu202Gly	missense variant	-	NC_000015.10:g.63127039A>G	TOPMed
rs771415441	p.Gly203Asp	missense variant	-	NC_000015.10:g.63127042G>A	ExAC,gnomAD
rs749623514	p.Gly203Arg	missense variant	-	NC_000015.10:g.63127041G>C	ExAC,gnomAD
rs774864003	p.Lys205Asn	missense variant	-	NC_000015.10:g.63127049G>C	ExAC
rs1416524119	p.Val206Ala	missense variant	-	NC_000015.10:g.63127354T>C	gnomAD
rs1291411758	p.Thr210Ala	missense variant	-	NC_000015.10:g.63127365A>G	gnomAD
rs368829983	p.Arg211Gly	missense variant	-	NC_000015.10:g.63127368A>G	ESP,ExAC,gnomAD
rs751240045	p.Arg211Ser	missense variant	-	NC_000015.10:g.63127370A>T	ExAC,TOPMed,gnomAD
rs766032294	p.Arg211Ile	missense variant	-	NC_000015.10:g.63127369G>T	ExAC,gnomAD
rs754596627	p.Leu213Pro	missense variant	-	NC_000015.10:g.63127375T>C	ExAC,gnomAD
rs780725423	p.His216Gln	missense variant	-	NC_000015.10:g.63127385T>A	ExAC,gnomAD
NCI-TCGA novel	p.Ile220Met	missense variant	-	NC_000015.10:g.63127397T>G	NCI-TCGA
rs142422927	p.Arg221His	missense variant	-	NC_000015.10:g.63127399G>A	ESP,ExAC,TOPMed,gnomAD
rs1486880436	p.Arg221Cys	missense variant	-	NC_000015.10:g.63127398C>T	gnomAD
rs755533365	p.His222Pro	missense variant	-	NC_000015.10:g.63127402A>C	gnomAD
rs755533365	p.His222Arg	missense variant	-	NC_000015.10:g.63127402A>G	gnomAD
rs779362563	p.Tyr223Ser	missense variant	-	NC_000015.10:g.63127405A>C	ExAC,gnomAD
rs757597249	p.Tyr223Asp	missense variant	-	NC_000015.10:g.63127404T>G	ExAC,gnomAD
rs746424994	p.Lys225Asn	missense variant	-	NC_000015.10:g.63127412G>T	ExAC,gnomAD
rs772125791	p.Lys228Glu	missense variant	-	NC_000015.10:g.63127419A>G	ExAC,TOPMed,gnomAD
COSM1373921	p.Glu232Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63127431G>A	NCI-TCGA Cosmic
rs1339821752	p.Glu233Lys	missense variant	-	NC_000015.10:g.63127434G>A	TOPMed,gnomAD
rs1339821752	p.Glu233Gln	missense variant	-	NC_000015.10:g.63127434G>C	TOPMed,gnomAD
rs1291212766	p.Ala235Asp	missense variant	-	NC_000015.10:g.63127441C>A	TOPMed
rs768865373	p.Ala235Thr	missense variant	-	NC_000015.10:g.63127440G>A	ExAC,TOPMed,gnomAD
rs776738955	p.Tyr236His	missense variant	-	NC_000015.10:g.63127443T>C	ExAC,gnomAD
rs1227904284	p.Ala238Thr	missense variant	-	NC_000015.10:g.63127449G>A	gnomAD
rs1304528542	p.Ala238Val	missense variant	-	NC_000015.10:g.63127450C>T	gnomAD
rs761627317	p.Leu239Phe	missense variant	-	NC_000015.10:g.63127454G>C	ExAC,TOPMed,gnomAD
rs1317496435	p.Lys240Arg	missense variant	-	NC_000015.10:g.63127456A>G	TOPMed
rs765161553	p.Met241Ile	missense variant	-	NC_000015.10:g.63127460G>T	ExAC,gnomAD
rs773258779	p.Met242Lys	missense variant	-	NC_000015.10:g.63127462T>A	ExAC,TOPMed,gnomAD
rs930437390	p.Lys243Gln	missense variant	-	NC_000015.10:g.63127464A>C	TOPMed
NCI-TCGA novel	p.Phe248IlePheSerTerUnk	frameshift	-	NC_000015.10:g.63127477_63127478insT	NCI-TCGA
rs763038053	p.Glu249Lys	missense variant	-	NC_000015.10:g.63127482G>A	ExAC,gnomAD
rs763038053	p.Glu249Gln	missense variant	-	NC_000015.10:g.63127482G>C	ExAC,gnomAD
rs765980175	p.Gln250Glu	missense variant	-	NC_000015.10:g.63127485C>G	ExAC,gnomAD
rs984588886	p.Glu251Gln	missense variant	-	NC_000015.10:g.63127488G>C	TOPMed,gnomAD
rs751058328	p.Lys252Arg	missense variant	-	NC_000015.10:g.63127492A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu253LysPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.63127489A>-	NCI-TCGA
rs754471151	p.Gly254Val	missense variant	-	NC_000015.10:g.63127498G>T	ExAC,gnomAD
rs34536322	p.Lys255Gln	missense variant	-	NC_000015.10:g.63127500A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs752336094	p.Lys255Arg	missense variant	-	NC_000015.10:g.63127501A>G	ExAC,gnomAD
rs750803911	p.Asn257Lys	missense variant	-	NC_000015.10:g.63127508T>G	ExAC,TOPMed,gnomAD
rs1401193349	p.Lys259AsnSerIleThrIleLeuThrTerLysIleUnk	stop gained	-	NC_000015.10:g.63127513_63127514insTTCAATTACAATATTAACCTGAAAAATA	gnomAD
rs779309517	p.Lys259Asn	missense variant	-	NC_000015.10:g.63127514G>C	ExAC
rs746371664	p.Asn260Lys	missense variant	-	NC_000015.10:g.63127517T>A	ExAC
rs758834671	p.Asp261Tyr	missense variant	-	NC_000015.10:g.63127518G>T	ExAC,gnomAD
rs1386537785	p.Asp261Val	missense variant	-	NC_000015.10:g.63127519A>T	gnomAD
rs758834671	p.Asp261Asn	missense variant	-	NC_000015.10:g.63127518G>A	ExAC,gnomAD
rs780550541	p.Phe262Val	missense variant	-	NC_000015.10:g.63127521T>G	ExAC,gnomAD
rs1486870661	p.Lys264Arg	missense variant	-	NC_000015.10:g.63127528A>G	gnomAD
NCI-TCGA novel	p.Phe265LeuPheSerTerUnk	stop gained	-	NC_000015.10:g.63127531_63127532insAACCTGAAAAA	NCI-TCGA
rs182421897	p.Phe265Leu	missense variant	-	NC_000015.10:g.63127532T>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys266ArgPheSerTerUnk	frameshift	-	NC_000015.10:g.63127533_63127534insG	NCI-TCGA
rs896127135	p.Thr267Lys	missense variant	-	NC_000015.10:g.63127537C>A	TOPMed,gnomAD
rs140622762	p.Thr267Ala	missense variant	-	NC_000015.10:g.63127536A>G	ESP,TOPMed,gnomAD
rs748363340	p.Glu268Lys	missense variant	-	NC_000015.10:g.63127539G>A	ExAC,gnomAD
rs535481475	p.Gln269Ter	stop gained	-	NC_000015.10:g.63127542C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs535481475	p.Gln269Glu	missense variant	-	NC_000015.10:g.63127542C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs773205311	p.Glu270Ala	missense variant	-	NC_000015.10:g.63127546A>C	ExAC,gnomAD
rs762857350	p.Asn271Ser	missense variant	-	NC_000015.10:g.63127549A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu272Asp	missense variant	-	NC_000015.10:g.63127553A>T	NCI-TCGA
rs1400570916	p.Ala273Val	missense variant	-	NC_000015.10:g.63127555C>T	TOPMed
rs201235539	p.Arg276Gln	missense variant	-	NC_000015.10:g.63127564G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774191436	p.Arg276Trp	missense variant	-	NC_000015.10:g.63127563C>T	ExAC,TOPMed,gnomAD
rs766986822	p.Asn277Tyr	missense variant	-	NC_000015.10:g.63127566A>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser278Ter	stop gained	-	NC_000015.10:g.63127570C>G	NCI-TCGA
rs1160210142	p.Lys283Arg	missense variant	-	NC_000015.10:g.63127585A>G	gnomAD
rs572687558	p.Lys284Arg	missense variant	-	NC_000015.10:g.63127588A>G	1000Genomes,ExAC,gnomAD
rs763742169	p.Glu288Val	missense variant	-	NC_000015.10:g.63127600A>T	ExAC,gnomAD
rs1385287756	p.Gln289His	missense variant	-	NC_000015.10:g.63127604A>T	gnomAD
rs750727023	p.Gln289Lys	missense variant	-	NC_000015.10:g.63127602C>A	ExAC,gnomAD
rs758783221	p.Gly290Val	missense variant	-	NC_000015.10:g.63127606G>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu291Ter	stop gained	-	NC_000015.10:g.63127608G>T	NCI-TCGA
rs755059722	p.Glu291Lys	missense variant	-	NC_000015.10:g.63127608G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu296Ter	stop gained	-	NC_000015.10:g.63127623G>T	NCI-TCGA
rs1486906885	p.Phe298Leu	missense variant	-	NC_000015.10:g.63127631T>A	TOPMed
rs770071147	p.Asn300Lys	missense variant	-	NC_000015.10:g.63127637T>G	ExAC,gnomAD
rs1357893330	p.Ser301Ter	stop gained	-	NC_000015.10:g.63127639C>A	gnomAD
COSM4916163	p.Ile302Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63127643T>G	NCI-TCGA Cosmic
rs142381405	p.Ile302Val	missense variant	-	NC_000015.10:g.63127641A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142381405	p.Ile302Phe	missense variant	-	NC_000015.10:g.63127641A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1183728548	p.Arg306Thr	missense variant	-	NC_000015.10:g.63127654G>C	gnomAD
rs1249478616	p.Leu307Ile	missense variant	-	NC_000015.10:g.63127656T>A	gnomAD
rs1225087331	p.Asp311Gly	missense variant	-	NC_000015.10:g.63127669A>G	TOPMed
rs1343308021	p.Pro312His	missense variant	-	NC_000015.10:g.63127672C>A	TOPMed
rs774327364	p.Lys316Ile	missense variant	-	NC_000015.10:g.63127684A>T	ExAC,TOPMed,gnomAD
rs774327364	p.Lys316Arg	missense variant	-	NC_000015.10:g.63127684A>G	ExAC,TOPMed,gnomAD
rs889186456	p.Pro317Leu	missense variant	-	NC_000015.10:g.63127687C>T	TOPMed,gnomAD
rs771607460	p.Pro317Ser	missense variant	-	NC_000015.10:g.63127686C>T	ExAC,gnomAD
rs199835006	p.Gly318Ala	missense variant	-	NC_000015.10:g.63129485G>C	1000Genomes,ExAC,gnomAD
rs146546670	p.Ser319Cys	missense variant	-	NC_000015.10:g.63129487A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs111861955	p.Ser319Asn	missense variant	-	NC_000015.10:g.63129488G>A	gnomAD
rs1281724293	p.Ser319Arg	missense variant	-	NC_000015.10:g.63129489T>A	TOPMed,gnomAD
rs778114499	p.Leu322Phe	missense variant	-	NC_000015.10:g.63129498G>C	ExAC,gnomAD
rs1186944065	p.Tyr328His	missense variant	-	NC_000015.10:g.63129514T>C	gnomAD
rs370595558	p.Tyr328Cys	missense variant	-	NC_000015.10:g.63129515A>G	ESP,ExAC,TOPMed,gnomAD
rs1166988026	p.Thr329Asn	missense variant	-	NC_000015.10:g.63129518C>A	gnomAD
rs139183549	p.Ala332Ser	missense variant	-	NC_000015.10:g.63129526G>T	ESP,ExAC,TOPMed,gnomAD
rs775519108	p.Ala333Gly	missense variant	-	NC_000015.10:g.63129530C>G	ExAC,gnomAD
rs915088572	p.Ile334Val	missense variant	-	NC_000015.10:g.63129532A>G	TOPMed
rs1261449932	p.Val335Ile	missense variant	-	NC_000015.10:g.63129535G>A	gnomAD
rs1400694052	p.Glu336Ala	missense variant	-	NC_000015.10:g.63129539A>C	gnomAD
rs746480283	p.Arg337Thr	missense variant	-	NC_000015.10:g.63129542G>C	ExAC,TOPMed,gnomAD
rs746480283	p.Arg337Lys	missense variant	-	NC_000015.10:g.63129542G>A	ExAC,TOPMed,gnomAD
rs186932521	p.Ala338Thr	missense variant	-	NC_000015.10:g.63129544G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1453297412	p.Tyr343Phe	missense variant	-	NC_000015.10:g.63129560A>T	gnomAD
rs930221220	p.Tyr346His	missense variant	-	NC_000015.10:g.63129568T>C	gnomAD
rs533248895	p.Met347Ile	missense variant	-	NC_000015.10:g.63129573G>A	1000Genomes,ExAC,gnomAD
rs759955286	p.Gln348Arg	missense variant	-	NC_000015.10:g.63129575A>G	ExAC,gnomAD
rs368235977	p.Gln348Glu	missense variant	-	NC_000015.10:g.63129574C>G	gnomAD
rs368235977	p.Gln348Ter	stop gained	-	NC_000015.10:g.63129574C>T	gnomAD
rs1199898241	p.Ile350Met	missense variant	-	NC_000015.10:g.63129582A>G	gnomAD
rs1396651361	p.His352Arg	missense variant	-	NC_000015.10:g.63129587A>G	TOPMed
rs756244410	p.Thr358Met	missense variant	-	NC_000015.10:g.63129605C>T	ExAC,TOPMed,gnomAD
rs754109761	p.Val360Met	missense variant	-	NC_000015.10:g.63129610G>A	ExAC,gnomAD
rs1454926520	p.Gln361Glu	missense variant	-	NC_000015.10:g.63129613C>G	TOPMed,gnomAD
rs1454926520	p.Gln361Ter	stop gained	-	NC_000015.10:g.63129613C>T	TOPMed,gnomAD
rs757488085	p.Glu362Lys	missense variant	-	NC_000015.10:g.63129616G>A	ExAC,gnomAD
rs912011979	p.Glu363Lys	missense variant	-	NC_000015.10:g.63129619G>A	gnomAD
rs745599979	p.Asn364Lys	missense variant	-	NC_000015.10:g.63129624C>G	ExAC,TOPMed,gnomAD
rs779210852	p.Asn364Asp	missense variant	-	NC_000015.10:g.63129622A>G	ExAC,gnomAD
rs368633373	p.Glu365Lys	missense variant	-	NC_000015.10:g.63129625G>A	ESP,ExAC,TOPMed,gnomAD
rs1005141365	p.Pro366Ser	missense variant	-	NC_000015.10:g.63129628C>T	TOPMed
rs779823983	p.Val367Met	missense variant	-	NC_000015.10:g.63129631G>A	ExAC,gnomAD
rs148264247	p.Asn370Ser	missense variant	-	NC_000015.10:g.63129641A>G	ESP,ExAC,TOPMed,gnomAD
COSM963666	p.Ala372Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63129646G>A	NCI-TCGA Cosmic
rs1246443177	p.Tyr375Cys	missense variant	-	NC_000015.10:g.63141285A>G	TOPMed
rs777272720	p.Tyr375Ter	stop gained	-	NC_000015.10:g.63141286T>A	ExAC,gnomAD
rs749030611	p.Val376Asp	missense variant	-	NC_000015.10:g.63141288T>A	ExAC,gnomAD
NCI-TCGA novel	p.Tyr377Ter	stop gained	-	NC_000015.10:g.63141292C>A	NCI-TCGA
COSM4818334	p.Lys380Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63141301G>C	NCI-TCGA Cosmic
rs1216816022	p.Arg382Cys	missense variant	-	NC_000015.10:g.63141305C>T	TOPMed
rs772322623	p.Arg382His	missense variant	-	NC_000015.10:g.63141306G>A	ExAC,TOPMed,gnomAD
rs1282311705	p.Thr386Arg	missense variant	-	NC_000015.10:g.63141318C>G	TOPMed
rs775930879	p.Pro387Ser	missense variant	-	NC_000015.10:g.63141320C>T	ExAC,gnomAD
rs1026377051	p.Pro387Arg	missense variant	-	NC_000015.10:g.63141321C>G	TOPMed,gnomAD
rs1352977343	p.Tyr388Asn	missense variant	-	NC_000015.10:g.63141323T>A	TOPMed
rs1238624473	p.Val389Glu	missense variant	-	NC_000015.10:g.63141327T>A	TOPMed,gnomAD
rs566925626	p.Val389Met	missense variant	-	NC_000015.10:g.63141326G>A	1000Genomes,ExAC,gnomAD
rs777310393	p.Asp390His	missense variant	-	NC_000015.10:g.63141329G>C	ExAC,gnomAD
rs1347758143	p.Asn391Ile	missense variant	-	NC_000015.10:g.63141333A>T	gnomAD
rs761766710	p.Asn391Asp	missense variant	-	NC_000015.10:g.63141332A>G	ExAC,gnomAD
rs1457182235	p.Ser392Phe	missense variant	-	NC_000015.10:g.63141336C>T	gnomAD
rs765406619	p.Lys394Asn	missense variant	-	NC_000015.10:g.63141343A>T	ExAC,gnomAD
rs750598000	p.Trp395Leu	missense variant	-	NC_000015.10:g.63141345G>T	ExAC,gnomAD
rs1365248997	p.Ala396Val	missense variant	-	NC_000015.10:g.63141348C>T	TOPMed
rs1287723878	p.Ser402Cys	missense variant	-	NC_000015.10:g.63141366C>G	TOPMed,gnomAD
rs766589039	p.Thr403Ala	missense variant	-	NC_000015.10:g.63141368A>G	ExAC,gnomAD
rs1230115734	p.Val404Ala	missense variant	-	NC_000015.10:g.63141372T>C	gnomAD
rs1346572766	p.Lys409Arg	missense variant	-	NC_000015.10:g.63141387A>G	TOPMed
rs1156366533	p.Asn412Ser	missense variant	-	NC_000015.10:g.63141396A>G	TOPMed
rs754787506	p.Ala413Val	missense variant	-	NC_000015.10:g.63141399C>T	ExAC,gnomAD
rs200127857	p.Met414Ile	missense variant	-	NC_000015.10:g.63141403G>C	ExAC,TOPMed,gnomAD
rs1418566096	p.Met414Val	missense variant	-	NC_000015.10:g.63141401A>G	TOPMed
COSM963668	p.Leu415Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63141404C>A	NCI-TCGA Cosmic
rs752732965	p.Leu415Phe	missense variant	-	NC_000015.10:g.63141404C>T	ExAC,gnomAD
rs1482304544	p.Tyr416Ser	missense variant	-	NC_000015.10:g.63141408A>C	gnomAD
rs755570176	p.Gly417Cys	missense variant	-	NC_000015.10:g.63141410G>T	ExAC,TOPMed,gnomAD
rs966030279	p.Gly417Asp	missense variant	-	NC_000015.10:g.63141411G>A	gnomAD
rs748753368	p.Tyr418His	missense variant	-	NC_000015.10:g.63141413T>C	ExAC,gnomAD
rs770651278	p.Gly421Arg	missense variant	-	NC_000015.10:g.63141422G>C	ExAC,TOPMed,gnomAD
rs770651278	p.Gly421Arg	missense variant	-	NC_000015.10:g.63141422G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe423LeuPheSerTerUnk	stop gained	-	NC_000015.10:g.63141429_63141430insGACAAGACGTTTCTTTTTATTGTAAACA	NCI-TCGA
rs778731900	p.Phe423Leu	missense variant	-	NC_000015.10:g.63141430T>G	ExAC,gnomAD
rs1372171353	p.Phe423Leu	missense variant	-	NC_000015.10:g.63141428T>C	gnomAD
rs1307276532	p.Ser426Leu	missense variant	-	NC_000015.10:g.63141438C>T	gnomAD
rs747339663	p.Asn427Asp	missense variant	-	NC_000015.10:g.63141440A>G	ExAC,gnomAD
rs1216086833	p.Asn429Ser	missense variant	-	NC_000015.10:g.63141447A>G	TOPMed
COSM963670	p.Leu430Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63141449C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu430Arg	missense variant	-	NC_000015.10:g.63141450T>G	NCI-TCGA
rs777253275	p.Gly433Glu	missense variant	-	NC_000015.10:g.63141459G>A	ExAC,gnomAD
rs1215356924	p.Tyr434Cys	missense variant	-	NC_000015.10:g.63141462A>G	gnomAD
COSM3502960	p.Pro437Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63141471C>T	NCI-TCGA Cosmic
rs773272640	p.Glu438Asp	missense variant	-	NC_000015.10:g.63141475A>C	ExAC,gnomAD
rs144012110	p.Thr439Ile	missense variant	-	NC_000015.10:g.63141477C>T	ESP,ExAC,TOPMed,gnomAD
rs1310337345	p.Met440Val	missense variant	-	NC_000015.10:g.63141479A>G	TOPMed
rs766535919	p.Val441Ile	missense variant	-	NC_000015.10:g.63141482G>A	ExAC,TOPMed,gnomAD
rs766535919	p.Val441Phe	missense variant	-	NC_000015.10:g.63141482G>T	ExAC,TOPMed,gnomAD
rs1281616840	p.Met443Thr	missense variant	-	NC_000015.10:g.63141489T>C	gnomAD
rs751809066	p.Met443Leu	missense variant	-	NC_000015.10:g.63141488A>C	ExAC
rs759306733	p.Trp444Ter	stop gained	-	NC_000015.10:g.63141492G>A	ExAC,gnomAD
rs1208693558	p.Pro448Leu	missense variant	-	NC_000015.10:g.63141504C>T	gnomAD
rs1214927582	p.Thr450Lys	missense variant	-	NC_000015.10:g.63141510C>A	TOPMed
rs1482676416	p.Glu451Asp	missense variant	-	NC_000015.10:g.63141514G>C	gnomAD
rs767361464	p.Glu451Lys	missense variant	-	NC_000015.10:g.63141512G>A	ExAC,gnomAD
rs1188799070	p.Met452Ile	missense variant	-	NC_000015.10:g.63141517G>T	gnomAD
rs1363719580	p.Asp455Gly	missense variant	-	NC_000015.10:g.63141525A>G	TOPMed
rs1391635467	p.Lys456Asn	missense variant	-	NC_000015.10:g.63141529A>C	gnomAD
COSM3794296	p.Glu457Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63141530G>A	NCI-TCGA Cosmic
rs1161209543	p.Glu457Asp	missense variant	-	NC_000015.10:g.63141532G>C	gnomAD
rs1295977948	p.Gly458Asp	missense variant	-	NC_000015.10:g.63141534G>A	TOPMed
rs756017281	p.Ala461Thr	missense variant	-	NC_000015.10:g.63141542G>A	ExAC,gnomAD
rs1375553290	p.Met462Val	missense variant	-	NC_000015.10:g.63141545A>G	TOPMed
rs1314145412	p.Ala463Val	missense variant	-	NC_000015.10:g.63141549C>T	TOPMed
rs753340432	p.Gly465Asp	missense variant	-	NC_000015.10:g.63141555G>A	ExAC,gnomAD
rs1416066398	p.Gly465Cys	missense variant	-	NC_000015.10:g.63141554G>T	gnomAD
rs753340432	p.Gly465Val	missense variant	-	NC_000015.10:g.63141555G>T	ExAC,gnomAD
rs756859717	p.Val466Leu	missense variant	-	NC_000015.10:g.63141557G>C	ExAC,gnomAD
rs1465023956	p.Val467Met	missense variant	-	NC_000015.10:g.63141560G>A	TOPMed
COSM2153270	p.Glu468Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63141564A>G	NCI-TCGA Cosmic
rs2729835	p.Arg469Lys	missense variant	-	NC_000015.10:g.63141567G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2729835	p.Arg469Lys	missense variant	-	NC_000015.10:g.63141567G>A	UniProt,dbSNP
VAR_018299	p.Arg469Lys	missense variant	-	NC_000015.10:g.63141567G>A	UniProt
rs1171636891	p.Lys470Asn	missense variant	-	NC_000015.10:g.63141571A>T	TOPMed
rs1363318456	p.Lys470Arg	missense variant	-	NC_000015.10:g.63141570A>G	gnomAD
NCI-TCGA novel	p.Thr472Lys	missense variant	-	NC_000015.10:g.63141576C>A	NCI-TCGA
rs746733829	p.Thr472Met	missense variant	-	NC_000015.10:g.63141576C>T	ExAC,TOPMed,gnomAD
rs1217965488	p.Tyr473Phe	missense variant	-	NC_000015.10:g.63141579A>T	gnomAD
rs1441269797	p.Gly474Val	missense variant	-	NC_000015.10:g.63141582G>T	gnomAD
rs1278619260	p.Gly474Arg	missense variant	-	NC_000015.10:g.63141581G>C	gnomAD
rs1278619260	p.Gly474Ser	missense variant	-	NC_000015.10:g.63141581G>A	gnomAD
rs556545187	p.Ser475Leu	missense variant	-	NC_000015.10:g.63141585C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1463291764	p.Cys476Phe	missense variant	-	NC_000015.10:g.63141588G>T	gnomAD
rs1259751471	p.Cys476Arg	missense variant	-	NC_000015.10:g.63141587T>C	TOPMed
rs773611217	p.Gln479Arg	missense variant	-	NC_000015.10:g.63141597A>G	ExAC,gnomAD
rs771050457	p.Arg480Trp	missense variant	-	NC_000015.10:g.63141599C>T	ExAC,TOPMed,gnomAD
rs148995972	p.Arg480Gln	missense variant	-	NC_000015.10:g.63141600G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr482His	missense variant	-	NC_000015.10:g.63141605T>C	NCI-TCGA
rs1276022933	p.Ala483Val	missense variant	-	NC_000015.10:g.63141609C>T	TOPMed
rs565191477	p.Ala483Thr	missense variant	-	NC_000015.10:g.63141608G>A	TOPMed,gnomAD
rs767735522	p.Ser484Pro	missense variant	-	NC_000015.10:g.63141611T>C	ExAC,gnomAD
rs1213945081	p.Gly487Ala	missense variant	-	NC_000015.10:g.63141621G>C	gnomAD
rs200480788	p.Ala489Thr	missense variant	-	NC_000015.10:g.63141626G>A	ExAC,gnomAD
rs367940459	p.Gly491Arg	missense variant	-	NC_000015.10:g.63141632G>C	ESP,ExAC,gnomAD
rs764053537	p.Gly491Asp	missense variant	-	NC_000015.10:g.63141633G>A	ExAC,TOPMed,gnomAD
rs756804133	p.Ala492Asp	missense variant	-	NC_000015.10:g.63141636C>A	ExAC,gnomAD
rs753760490	p.Ala492Thr	missense variant	-	NC_000015.10:g.63141635G>A	ExAC,TOPMed,gnomAD
rs753760490	p.Ala492Ser	missense variant	-	NC_000015.10:g.63141635G>T	ExAC,TOPMed,gnomAD
rs1330450786	p.Ser493Asn	missense variant	-	NC_000015.10:g.63141639G>A	gnomAD
rs369446060	p.Ser493Arg	missense variant	-	NC_000015.10:g.63141640T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1207694084	p.Glu502Asp	missense variant	-	NC_000015.10:g.63141667A>C	TOPMed,gnomAD
rs1326516034	p.Glu502Ter	stop gained	-	NC_000015.10:g.63141665G>T	gnomAD
rs1290225341	p.Leu503Met	missense variant	-	NC_000015.10:g.63141668C>A	gnomAD
rs372475477	p.Asp504Asn	missense variant	-	NC_000015.10:g.63141671G>A	ESP,ExAC,TOPMed,gnomAD
rs1463939302	p.Asp504Gly	missense variant	-	NC_000015.10:g.63141672A>G	TOPMed
rs778310160	p.Glu506Lys	missense variant	-	NC_000015.10:g.63141677G>A	ExAC,gnomAD
rs770997369	p.Glu506Asp	missense variant	-	NC_000015.10:g.63141679G>T	ExAC,gnomAD
rs778310160	p.Glu506Gln	missense variant	-	NC_000015.10:g.63141677G>C	ExAC,gnomAD
rs377555615	p.Thr507Pro	missense variant	-	NC_000015.10:g.63141680A>C	1000Genomes,ExAC,gnomAD
rs377555615	p.Thr507Ala	missense variant	-	NC_000015.10:g.63141680A>G	1000Genomes,ExAC,gnomAD
rs1184322607	p.Ile508Val	missense variant	-	NC_000015.10:g.63141683A>G	gnomAD
NCI-TCGA novel	p.Asn509His	missense variant	-	NC_000015.10:g.63141686A>C	NCI-TCGA
rs1163985910	p.Lys511Asn	missense variant	-	NC_000015.10:g.63141694G>C	gnomAD
rs1456842586	p.Lys511Thr	missense variant	-	NC_000015.10:g.63141693A>C	gnomAD
rs1040866866	p.Val512Ile	missense variant	-	NC_000015.10:g.63141695G>A	TOPMed,gnomAD
rs1040866866	p.Val512Leu	missense variant	-	NC_000015.10:g.63141695G>C	TOPMed,gnomAD
rs775607481	p.Pro514Thr	missense variant	-	NC_000015.10:g.63141701C>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro514GlnPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.63141698C>-	NCI-TCGA
rs760488771	p.Pro514Gln	missense variant	-	NC_000015.10:g.63141702C>A	ExAC,gnomAD
COSM434119	p.Val519Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63141717T>C	NCI-TCGA Cosmic
rs1185596927	p.Val519Ile	missense variant	-	NC_000015.10:g.63141716G>A	TOPMed
rs1185596927	p.Val519Leu	missense variant	-	NC_000015.10:g.63141716G>C	TOPMed
NCI-TCGA novel	p.Ser520Cys	missense variant	-	NC_000015.10:g.63141720C>G	NCI-TCGA
NCI-TCGA novel	p.Ser520Phe	missense variant	-	NC_000015.10:g.63141720C>T	NCI-TCGA
rs1287065271	p.Ile522Val	missense variant	-	NC_000015.10:g.63141725A>G	TOPMed,gnomAD
rs761908040	p.Gln526Lys	missense variant	-	NC_000015.10:g.63141737C>A	ExAC,TOPMed,gnomAD
rs1358070384	p.Ser527Phe	missense variant	-	NC_000015.10:g.63141741C>T	gnomAD
rs749890606	p.Leu530Phe	missense variant	-	NC_000015.10:g.63141749C>T	ExAC,gnomAD
rs1483294303	p.Ser532Cys	missense variant	-	NC_000015.10:g.63141755A>T	gnomAD
rs1483294303	p.Ser532Gly	missense variant	-	NC_000015.10:g.63141755A>G	gnomAD
rs991619952	p.Leu535Val	missense variant	-	NC_000015.10:g.63141764T>G	TOPMed
COSM4056101	p.Lys536Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63141768A>T	NCI-TCGA Cosmic
COSM700769	p.Asp542His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63141785G>C	NCI-TCGA Cosmic
rs1471914250	p.Arg545Ser	missense variant	-	NC_000015.10:g.63141796A>T	gnomAD
rs1370376699	p.Arg545Ile	missense variant	-	NC_000015.10:g.63141795G>T	gnomAD
rs1242081508	p.Ser546Ter	stop gained	-	NC_000015.10:g.63141798C>G	TOPMed
rs1024403619	p.Asp547Asn	missense variant	-	NC_000015.10:g.63141800G>A	TOPMed
rs766012269	p.Asp547Gly	missense variant	-	NC_000015.10:g.63141801A>G	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0027651	Neoplasms	group	BEFREE
C0028754	Obesity	disease	CTD_human
C0751651	Mitochondrial Diseases	group	GENOMICS_ENGLAND

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0008233	peptidase activity	IDA
GO:0042802	identical protein binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006508	proteolysis	IDA
GO:0006629	lipid metabolic process	IEA
GO:0019216	regulation of lipid metabolic process	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005739	mitochondrion	IDA
GO:0005739	mitochondrion	HDA
GO:0005829	cytosol	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of LACTB mRNA	21346803
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of LACTB mRNA	18648102
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of LACTB mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of LACTB mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of LACTB mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of LACTB mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of LACTB mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of LACTB mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of LACTB mRNA	27188386
D000082	Acetaminophen	Acetaminophen results in increased expression of LACTB mRNA	25704631
D000082	Acetaminophen	Acetaminophen affects the expression of LACTB mRNA	17562736
D000661	Amphetamine	Amphetamine results in increased expression of LACTB mRNA	30779732
D018501	Antirheumatic Agents	Antirheumatic Agents results in decreased expression of LACTB mRNA	24449571
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite results in decreased expression of LACTB mRNA	29523930
D001280	Atrazine	Atrazine results in increased expression of LACTB mRNA	22378314
D001280	Atrazine	Atrazine results in decreased expression of LACTB mRNA	29505797
C049935	avobenzone	avobenzone results in increased expression of LACTB mRNA	31016361
C487081	belinostat	belinostat results in increased expression of LACTB mRNA	26272509
C487081	belinostat	[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of LACTB mRNA	27188386
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of LACTB mRNA	22228805
C006780	bisphenol A	bisphenol A results in increased expression of LACTB mRNA	30816183
D002065	Buspirone	Buspirone results in decreased expression of LACTB mRNA	24136188
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of LACTB mRNA	27339419
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of LACTB mRNA	20938992
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of LACTB gene	20938992
C074702	chromium hexavalent ion	chromium hexavalent ion results in decreased expression of LACTB mRNA	30690063
D002945	Cisplatin	Cisplatin affects the expression of LACTB mRNA	23300844
D003375	Coumestrol	Coumestrol results in decreased expression of LACTB mRNA	19167446
D016572	Cyclosporine	Cyclosporine results in decreased expression of LACTB mRNA	27989131
D000077209	Decitabine	Decitabine affects the expression of LACTB mRNA	23300844
C000944	dicrotophos	dicrotophos results in decreased expression of LACTB mRNA	28302478
C516138	dorsomorphin	[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of LACTB mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of LACTB mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of LACTB mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of LACTB mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of LACTB mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of LACTB mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of LACTB mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of LACTB mRNA	26873546
D004726	Endosulfan	Endosulfan results in decreased expression of LACTB mRNA	29391264
C118739	entinostat	entinostat results in increased expression of LACTB mRNA	26272509; 27188386;
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of LACTB mRNA	27188386
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of LACTB mRNA	22079256
D004958	Estradiol	Estradiol affects the expression of LACTB mRNA	22574217
D004958	Estradiol	Estradiol results in decreased expression of LACTB mRNA	19167446
D000431	Ethanol	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of LACTB mRNA	29432896
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of LACTB mRNA	20938992
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of LACTB gene	20938992
C069837	fullerene C60	fullerene C60 results in decreased expression of LACTB mRNA	19167457
D005742	Gasoline	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of LACTB mRNA	29432896
D005742	Gasoline	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of LACTB mRNA	29432896
D007052	Ibuprofen	Ibuprofen results in decreased expression of LACTB mRNA	28201806
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of LACTB mRNA	25613284
C042720	mercuric bromide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of LACTB mRNA	27188386
D008694	Methamphetamine	Methamphetamine results in increased expression of LACTB mRNA	19149911
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of LACTB mRNA	20938992
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of LACTB gene	20938992
D008746	Methylazoxymethanol Acetate	Methylazoxymethanol Acetate results in increased expression of LACTB mRNA	28349193
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of LACTB mRNA	23179753; 27188386;
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of LACTB mRNA	23649840
C583365	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide results in decreased expression of LACTB mRNA	29244179
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of LACTB mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of LACTB mRNA	25554681
D009532	Nickel	Nickel results in increased expression of LACTB mRNA	24768652; 25583101;
C028007	nickel monoxide	nickel monoxide results in decreased expression of LACTB mRNA	19167457
D009534	Niclosamide	Niclosamide results in increased expression of LACTB mRNA	31398420
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of LACTB mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of LACTB mRNA	26272509
D052638	Particulate Matter	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of LACTB mRNA	29432896
D052638	Particulate Matter	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of LACTB mRNA	29432896
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of LACTB mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of LACTB mRNA	26272509
C006253	pirinixic acid	pirinixic acid results in decreased expression of LACTB mRNA	18445702
D010936	Plant Extracts	Plant Extracts results in increased expression of LACTB mRNA	23557933
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of LACTB mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of LACTB mRNA	29432896
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of LACTB mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of LACTB mRNA	22079256; 22714537;
C005556	propionaldehyde	propionaldehyde results in increased expression of LACTB mRNA	26079696
D011794	Quercetin	Quercetin results in decreased expression of LACTB mRNA	21632981
C513635	S-2-pentyl-4-pentynoic hydroxamic acid	S-2-pentyl-4-pentynoic hydroxamic acid results in increased expression of LACTB mRNA	21427059
C017947	sodium arsenite	sodium arsenite results in increased expression of LACTB protein	29459688
D012969	Sodium Fluoride	Sodium Fluoride results in decreased expression of LACTB protein	28918527
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of LACTB mRNA	21632981
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of LACTB mRNA	25613284
C009495	titanium dioxide	titanium dioxide results in increased expression of LACTB mRNA	23557971
C011559	tributyltin	tributyltin results in decreased expression of LACTB mRNA	29505797
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of LACTB mRNA	27188386
C012589	trichostatin A	trichostatin A affects the expression of LACTB mRNA	28542535
C012589	trichostatin A	trichostatin A results in increased expression of LACTB mRNA	24935251; 26272509;
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of LACTB mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of LACTB mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of LACTB mRNA	19101580; 23179753; 24383497; 24935251; 26272509; 27188386; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased expression of LACTB mRNA	19136453; 21427059;
C025643	vinclozolin	vinclozolin results in increased expression of LACTB mRNA	22570695
D000077337	Vorinostat	Vorinostat results in increased expression of LACTB mRNA	27188386

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0007	Acetylation
KW-0025	Alternative splicing
KW-0378	Hydrolase
KW-0443	Lipid metabolism
KW-0496	Mitochondrion
KW-0621	Polymorphism
KW-0645	Protease
KW-1185	Reference proteome
KW-0809	Transit peptide
KW-0043	Tumor suppressor

Interpro

InterPro ID	InterPro Term
IPR001466	Beta-lactam-related
IPR012338	Beta-lactam/transpept-like

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF00144	Beta-lactamase

Gene: LACTB

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

Identified variants/mutations related to cleft phenotype

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