CleftGeneDB-Search

Gene: NAT1

Basic information

Tag	Content
Uniprot ID	P18440; A8K4E7; O15159; O15300; Q546N1; Q96TE9;
Entrez ID	9
Genbank protein ID	ABC26292.1; AAB84384.1; ABC26345.1; ABC26222.1; ABC26194.1; AAA59905.1; ABC26306.1; ABC26237.1; ABC26332.1; ABC26330.1; ABC26254.1; ABC26276.1; ABC26334.1; ABC26242.1; ABC26303.1; ABC26205.1; ABC26228.1; ABC26271.1; ABC26253.1; ABC26270.1; ABC26211.1; ABC26266.1; ABC26252.1; ABC26322.1; ABC26342.1; ABC26293.1; ABC26217.1; ABC26231.1; ABC26341.1; ABC26201.1; ABC26328.1; ABC26207.1; AAH47666.1; ABC26257.1; ABC26226.1; ABC26232.1; ABC26346.1; ABC26326.1; ABC26197.1; ABC26297.1; ABC26202.1; ABC26294.1; ABC26246.1; ABC26349.1; ABC26300.1; AAV50002.1; ABC26225.1; ABC26308.1; ABC26340.1; ABC26305.1; ABC26214.1; ABC26307.1; ABC26223.1; ABC26288.1; ABC26230.1; CAC38345.1; ABC26313.1; ABC26304.1; ABC26284.1; ABC26344.1; ABC26310.1; ABC26241.1; ABC26215.1; ABC26258.1; ABC26274.1; ABC26295.1; ABC26204.1; ABC26229.1; ABC26298.1; BAA14095.1; ABC26268.1; ABC26200.1; ABC26272.1; ABC26278.1; ABC26224.1; ABC26261.1; ABC26317.1; ABC26335.1; ABC26218.1; ABC26285.1; AAB86878.1; ABC26320.1; ABC26336.1; ABC26331.1; ABC26312.1; ABC26238.1; ABC26243.1; ABC26247.1; ABC26290.1; ABC26199.1; ABC26279.1; ABC26206.1; ABC26275.1; ABC26337.1; AAC32388.1; ABC26203.1; ABC26280.1; ABC26324.1; ABC26348.1; ABC26227.1; ABC26299.1; ABC26262.1; ABC26314.1; AAD13343.1; ABC26208.1; ABC26220.1; ABC26315.1; ABC26196.1; ABC26235.1; ABC26259.1; ABC26240.1; ABC26264.1; ABC26213.1; ABC26277.1; ABC26195.1; ABC26351.1; ABC26212.1; ABC26282.1; ABC26325.1; CAA34905.1; ABC26347.1; ABC26343.1; ABC26251.1; ABC26250.1; AAB62398.1; ABC26283.1; ABC26234.1; AAP88036.1; ABC26255.1; ABC26260.1; ABC26263.1; BAF83601.1; ABC26265.1; ABC26233.1; ABC26249.1; ABC26245.1; ABC26327.1; AAC24707.1; ABC26321.1; ABC26269.1; ABC26244.1; ABC26339.1; ABC26309.1; ABC26267.1; ABC26256.1; ABC26193.1; ABC26338.1; ABC26219.1; AAB86879.1; ABC26333.1; ABC26318.1; ABC26316.1; ABC26236.1; ABC26329.1; ABC26192.1; ABC26209.1; ABC26210.1; ABC26221.1; ABC26286.1; ABC26301.1; ABC26239.1; ABC26350.1; ABC26296.1; ABC26216.1; ABC26311.1; ABC26319.1; ABC26289.1; ABC26291.1; ABC26198.1; ABC26273.1; CAC01128.1; ABC26248.1; AAC24712.1; ABC26302.1; ABC26323.1; ABC26281.1; ABC26287.1;
Genbank nucleotide ID	NM_001160173.3; NM_001160171.3; NM_001160179.2; NM_000662.7; NM_001160174.2; NM_001160172.3; XM_006716410.3; XM_011544689.2; NM_001160170.3;
Ensembl protein ID	ENSP00000440900; ENSP00000429341; ENSP00000428270; ENSP00000429407; ENSP00000307218;
Ensembl nucleotide ID	ENSG00000171428
Gene name	Arylamine N-acetyltransferase 1
Gene symbol	NAT1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CPO,CL/P
Developmental stage
Data sources	Manually collected
Reference	23660777; 15127906; 15523664;
Functional description	Participates in the detoxification of a plethora of hydrazine and arylamine drugs. Catalyzes the N- or O-acetylation of various arylamine and heterocyclic amine substrates and is able to bioactivate several known carcinogens.
Sequence	MDIEAYLERI GYKKSRNKLD LETLTDILQH QIRAVPFENL NIHCGDAMDL GLEAIFDQVV 60 RRNRGGWCLQ VNHLLYWALT TIGFETTMLG GYVYSTPAKK YSTGMIHLLL QVTIDGRNYI 120 VDAGFGRSYQ MWQPLELISG KDQPQVPCVF RLTEENGFWY LDQIRREQYI PNEEFLHSDL 180 LEDSKYRKIY SFTLKPRTIE DFESMNTYLQ TSPSSVFTSK SFCSLQTPDG VHCLVGFTLT 240 HRRFNYKDNT DLIEFKTLSE EEIEKVLKNI FNISLQRKLV PKHGDRFFTI

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

PDB ID
2DSS
2GWU
2IJA
2PQT
2IJA

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
NAT1	c.1088T>A	Genotyping	15127906
NAT1	c.1095C>A	Genotyping	15127906
NAT1	rs4921580C>G	Genotyping	23660777

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1182777627	p.Asp2Gly	missense variant	-	NC_000008.11:g.18222052A>G	gnomAD
rs868623536	p.Ile3Leu	missense variant	-	NC_000008.11:g.18222054A>C	gnomAD
rs868623536	p.Ile3Val	missense variant	-	NC_000008.11:g.18222054A>G	gnomAD
rs1372783672	p.Ala5Glu	missense variant	-	NC_000008.11:g.18222061C>A	TOPMed
rs772568722	p.Arg9Ile	missense variant	-	NC_000008.11:g.18222073G>T	ExAC,gnomAD
rs762718093	p.Ile10Asn	missense variant	-	NC_000008.11:g.18222076T>A	ExAC,TOPMed,gnomAD
rs762718093	p.Ile10Thr	missense variant	-	NC_000008.11:g.18222076T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr12Cys	missense variant	-	NC_000008.11:g.18222082A>G	NCI-TCGA
rs770525399	p.Arg16Ser	missense variant	-	NC_000008.11:g.18222095G>C	ExAC,TOPMed,gnomAD
rs759261556	p.Asp20Tyr	missense variant	-	NC_000008.11:g.18222105G>T	ExAC,TOPMed,gnomAD
rs1456672837	p.Asp20Val	missense variant	-	NC_000008.11:g.18222106A>T	gnomAD
rs767455795	p.Leu21Val	missense variant	-	NC_000008.11:g.18222108T>G	ExAC,gnomAD
rs1318508898	p.Glu22Lys	missense variant	-	NC_000008.11:g.18222111G>A	gnomAD
rs767121351	p.Thr23Ala	missense variant	-	NC_000008.11:g.18222114A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu28Phe	missense variant	-	NC_000008.11:g.18222129C>T	NCI-TCGA
rs764281519	p.Leu28Ile	missense variant	-	NC_000008.11:g.18222129C>A	ExAC,gnomAD
rs867938850	p.His30Asn	missense variant	-	NC_000008.11:g.18222135C>A	gnomAD
rs867938850	p.His30Tyr	missense variant	-	NC_000008.11:g.18222135C>T	gnomAD
rs1455332072	p.His30Leu	missense variant	-	NC_000008.11:g.18222136A>T	TOPMed
rs369130089	p.Gln31Arg	missense variant	-	NC_000008.11:g.18222139A>G	ESP,ExAC,gnomAD
rs757584542	p.Ile32Phe	missense variant	-	NC_000008.11:g.18222141A>T	ExAC,TOPMed,gnomAD
rs757584542	p.Ile32Leu	missense variant	-	NC_000008.11:g.18222141A>C	ExAC,TOPMed,gnomAD
rs757584542	p.Ile32Val	missense variant	-	NC_000008.11:g.18222141A>G	ExAC,TOPMed,gnomAD
rs56318881	p.Arg33Ter	stop gained	-	NC_000008.11:g.18222144C>T	ExAC,TOPMed,gnomAD
rs111848753	p.Arg33Gln	missense variant	-	NC_000008.11:g.18222145G>A	ExAC,TOPMed,gnomAD
rs758889084	p.Ala34Ser	missense variant	-	NC_000008.11:g.18222147G>T	ExAC,gnomAD
rs1231619198	p.Pro36Ala	missense variant	-	NC_000008.11:g.18222153C>G	gnomAD
NCI-TCGA novel	p.Glu38Asp	missense variant	-	NC_000008.11:g.18222161G>T	NCI-TCGA
rs780275360	p.Asn41His	missense variant	-	NC_000008.11:g.18222168A>C	ExAC,gnomAD
rs780275360	p.Asn41Asp	missense variant	-	NC_000008.11:g.18222168A>G	ExAC,gnomAD
rs1355361339	p.Ile42Thr	missense variant	-	NC_000008.11:g.18222172T>C	gnomAD
rs747595397	p.His43Asn	missense variant	-	NC_000008.11:g.18222174C>A	ExAC,TOPMed,gnomAD
rs747595397	p.His43Tyr	missense variant	-	NC_000008.11:g.18222174C>T	ExAC,TOPMed,gnomAD
rs181298696	p.Gly45Arg	missense variant	-	NC_000008.11:g.18222180G>A	1000Genomes,TOPMed
rs181298696	p.Gly45Trp	missense variant	-	NC_000008.11:g.18222180G>T	1000Genomes,TOPMed
rs1236531495	p.Gly45Val	missense variant	-	NC_000008.11:g.18222181G>T	TOPMed
rs769023535	p.Met48Ile	missense variant	-	NC_000008.11:g.18222191G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp49Asn	missense variant	-	NC_000008.11:g.18222192G>A	NCI-TCGA
rs777369440	p.Leu52Ile	missense variant	-	NC_000008.11:g.18222201T>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu53Lys	missense variant	-	NC_000008.11:g.18222204G>A	NCI-TCGA
rs1302880344	p.Ala54Val	missense variant	-	NC_000008.11:g.18222208C>T	TOPMed
NCI-TCGA novel	p.Phe56LeuPheSerTerUnk	frameshift	-	NC_000008.11:g.18222211T>-	NCI-TCGA
rs748760955	p.Phe56Leu	missense variant	-	NC_000008.11:g.18222215T>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp57GlyPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.18222215_18222216insG	NCI-TCGA
NCI-TCGA novel	p.Asp57Tyr	missense variant	-	NC_000008.11:g.18222216G>T	NCI-TCGA
rs770576147	p.Gln58His	missense variant	-	NC_000008.11:g.18222221A>T	ExAC,gnomAD
rs745507855	p.Val59Ala	missense variant	-	NC_000008.11:g.18222223T>C	ExAC,gnomAD
rs373598025	p.Val59Leu	missense variant	-	NC_000008.11:g.18222222G>C	ESP,ExAC
rs1368442859	p.Val60Leu	missense variant	-	NC_000008.11:g.18222225G>C	TOPMed,gnomAD
rs1456685250	p.Arg62Ile	missense variant	-	NC_000008.11:g.18222232G>T	TOPMed,gnomAD
rs1456685250	p.Arg62Thr	missense variant	-	NC_000008.11:g.18222232G>C	TOPMed,gnomAD
rs1453728176	p.Asn63Ser	missense variant	-	NC_000008.11:g.18222235A>G	TOPMed
RCV000239134	p.Arg64Trp	missense variant	-	NC_000008.11:g.18222237C>T	ClinVar
rs56379106	p.Arg64Trp	missense variant	-	NC_000008.11:g.18222237C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138061602	p.Arg64Gln	missense variant	-	NC_000008.11:g.18222238G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1435979876	p.Gly65Asp	missense variant	-	NC_000008.11:g.18222241G>A	TOPMed
rs760682628	p.Gly66Arg	missense variant	-	NC_000008.11:g.18222243G>A	ExAC,gnomAD
rs1392888904	p.Gly66Glu	missense variant	-	NC_000008.11:g.18222244G>A	TOPMed
rs1374012381	p.Trp67Arg	missense variant	-	NC_000008.11:g.18222246T>C	gnomAD
rs200617057	p.Trp67Cys	missense variant	-	NC_000008.11:g.18222248G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1172703660	p.Trp67Ter	stop gained	-	NC_000008.11:g.18222247G>A	TOPMed
rs200617057	p.Trp67Ter	stop gained	-	NC_000008.11:g.18222248G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln70Ter	stop gained	-	NC_000008.11:g.18222255C>T	NCI-TCGA
NCI-TCGA novel	p.His73Gln	missense variant	-	NC_000008.11:g.18222266T>A	NCI-TCGA
rs1242293172	p.Leu75Val	missense variant	-	NC_000008.11:g.18222270C>G	gnomAD
rs758659369	p.Tyr76Ter	stop gained	-	NC_000008.11:g.18222275C>A	ExAC,TOPMed,gnomAD
rs1184525084	p.Tyr76Phe	missense variant	-	NC_000008.11:g.18222274A>T	TOPMed
rs1274840625	p.Tyr76His	missense variant	-	NC_000008.11:g.18222273T>C	TOPMed,gnomAD
rs766818967	p.Trp77Cys	missense variant	-	NC_000008.11:g.18222278G>T	ExAC,TOPMed,gnomAD
rs766818967	p.Trp77Cys	missense variant	-	NC_000008.11:g.18222278G>C	ExAC,TOPMed,gnomAD
rs899099033	p.Trp77Ter	stop gained	-	NC_000008.11:g.18222277G>A	TOPMed
rs766818967	p.Trp77Ter	stop gained	-	NC_000008.11:g.18222278G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr80Ile	missense variant	-	NC_000008.11:g.18222286C>T	NCI-TCGA
rs1196494896	p.Thr81Ala	missense variant	-	NC_000008.11:g.18222288A>G	gnomAD
rs878972721	p.Ile82Val	missense variant	-	NC_000008.11:g.18222291A>G	gnomAD
rs781488745	p.Ile82Thr	missense variant	-	NC_000008.11:g.18222292T>C	ExAC,TOPMed,gnomAD
rs781488745	p.Ile82Asn	missense variant	-	NC_000008.11:g.18222292T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu85Val	missense variant	-	NC_000008.11:g.18222301A>T	NCI-TCGA
rs1293918771	p.Thr86Ala	missense variant	-	NC_000008.11:g.18222303A>G	TOPMed
rs1472009345	p.Thr86Ser	missense variant	-	NC_000008.11:g.18222304C>G	TOPMed,gnomAD
rs377662129	p.Thr87Met	missense variant	-	NC_000008.11:g.18222307C>T	ESP,ExAC,TOPMed,gnomAD
rs745561037	p.Leu89Ter	stop gained	-	NC_000008.11:g.18222313T>A	ExAC,gnomAD
rs1413473345	p.Gly90Ala	missense variant	-	NC_000008.11:g.18222316G>C	TOPMed
rs1413473345	p.Gly90Glu	missense variant	-	NC_000008.11:g.18222316G>A	TOPMed
rs906486901	p.Gly91Trp	missense variant	-	NC_000008.11:g.18222318G>T	TOPMed
rs771574299	p.Tyr92Cys	missense variant	-	NC_000008.11:g.18222322A>G	ExAC
rs1003496685	p.Val93Phe	missense variant	-	NC_000008.11:g.18222324G>T	TOPMed,gnomAD
rs1003496685	p.Val93Leu	missense variant	-	NC_000008.11:g.18222324G>C	TOPMed,gnomAD
rs746715596	p.Thr96Ile	missense variant	-	NC_000008.11:g.18222334C>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr96Asn	missense variant	-	NC_000008.11:g.18222334C>A	NCI-TCGA
rs142535782	p.Pro97Ala	missense variant	-	NC_000008.11:g.18222336C>G	ESP,ExAC,TOPMed,gnomAD
rs776486965	p.Ala98Val	missense variant	-	NC_000008.11:g.18222340C>T	ExAC,TOPMed,gnomAD
rs776486965	p.Ala98Gly	missense variant	-	NC_000008.11:g.18222340C>G	ExAC,TOPMed,gnomAD
rs1294831136	p.Lys99Arg	missense variant	-	NC_000008.11:g.18222343A>G	gnomAD
rs1355837022	p.Lys99Asn	missense variant	-	NC_000008.11:g.18222344A>C	gnomAD
rs956774819	p.Lys100Asn	missense variant	-	NC_000008.11:g.18222347A>C	TOPMed
rs746311173	p.Tyr101IlePheSerTerUnkUnk	frameshift	-	NC_000008.11:g.18222341_18222342insA	NCI-TCGA,NCI-TCGA Cosmic
rs1256959731	p.Thr103Ala	missense variant	-	NC_000008.11:g.18222354A>G	TOPMed
rs765445123	p.Gly104Asp	missense variant	-	NC_000008.11:g.18222358G>A	ExAC,TOPMed,gnomAD
rs761834764	p.Gly104Ser	missense variant	-	NC_000008.11:g.18222357G>A	ExAC,gnomAD
rs765445123	p.Gly104Val	missense variant	-	NC_000008.11:g.18222358G>T	ExAC,TOPMed,gnomAD
rs1228183829	p.Met105Arg	missense variant	-	NC_000008.11:g.18222361T>G	gnomAD
rs1309516215	p.Met105Val	missense variant	-	NC_000008.11:g.18222360A>G	gnomAD
rs370859724	p.Met105Ile	missense variant	-	NC_000008.11:g.18222362G>T	ESP,ExAC,TOPMed,gnomAD
rs370859724	p.Met105Ile	missense variant	-	NC_000008.11:g.18222362G>A	ESP,ExAC,TOPMed,gnomAD
rs1482523937	p.Ile106Asn	missense variant	-	NC_000008.11:g.18222364T>A	TOPMed,gnomAD
rs1227159696	p.Ile106Phe	missense variant	-	NC_000008.11:g.18222363A>T	TOPMed
rs751961199	p.Ile106Met	missense variant	-	NC_000008.11:g.18222365T>G	ExAC,TOPMed,gnomAD
rs1482523937	p.Ile106Ser	missense variant	-	NC_000008.11:g.18222364T>G	TOPMed,gnomAD
rs1192004687	p.Leu108Arg	missense variant	-	NC_000008.11:g.18222370T>G	gnomAD
rs767910902	p.Leu108Ile	missense variant	-	NC_000008.11:g.18222369C>A	ExAC,gnomAD
rs756584972	p.Gln111His	missense variant	-	NC_000008.11:g.18222380G>C	ExAC,gnomAD
rs753271283	p.Gln111Leu	missense variant	-	NC_000008.11:g.18222379A>T	ExAC,gnomAD
rs1170465216	p.Val112Met	missense variant	-	NC_000008.11:g.18222381G>A	gnomAD
rs778415469	p.Thr113Ser	missense variant	-	NC_000008.11:g.18222385C>G	ExAC,gnomAD
rs1232055758	p.Thr113Ala	missense variant	-	NC_000008.11:g.18222384A>G	TOPMed
rs145975713	p.Ile114Thr	missense variant	-	NC_000008.11:g.18222388T>C	ESP,ExAC,TOPMed,gnomAD
rs745340680	p.Ile114Val	missense variant	-	NC_000008.11:g.18222387A>G	ExAC,TOPMed,gnomAD
rs145975713	p.Ile114Asn	missense variant	-	NC_000008.11:g.18222388T>A	ESP,ExAC,TOPMed,gnomAD
rs768399724	p.Asp115Glu	missense variant	-	NC_000008.11:g.18222392T>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly116Cys	missense variant	-	NC_000008.11:g.18222393G>T	NCI-TCGA
COSM1097648	p.Gly116Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18222394G>A	NCI-TCGA Cosmic
rs55641436	p.Arg117Thr	missense variant	-	NC_000008.11:g.18222397G>C	UniProt,dbSNP
VAR_009510	p.Arg117Thr	missense variant	-	NC_000008.11:g.18222397G>C	UniProt
rs55641436	p.Arg117Thr	missense variant	-	NC_000008.11:g.18222397G>C	-
COSM3898575	p.Asn118Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18222400A>G	NCI-TCGA Cosmic
rs781100714	p.Asn118Lys	missense variant	-	NC_000008.11:g.18222401C>A	ExAC,gnomAD
rs748142921	p.Tyr119His	missense variant	-	NC_000008.11:g.18222402T>C	ExAC,gnomAD
rs777637715	p.Ile120Thr	missense variant	-	NC_000008.11:g.18222406T>C	ExAC,TOPMed,gnomAD
rs777637715	p.Ile120Ser	missense variant	-	NC_000008.11:g.18222406T>G	ExAC,TOPMed,gnomAD
rs769808211	p.Ile120Phe	missense variant	-	NC_000008.11:g.18222405A>T	ExAC,gnomAD
rs777637715	p.Ile120Asn	missense variant	-	NC_000008.11:g.18222406T>A	ExAC,TOPMed,gnomAD
rs771202638	p.Ala123Val	missense variant	-	NC_000008.11:g.18222415C>T	ExAC,gnomAD
rs1166797430	p.Phe125Ser	missense variant	-	NC_000008.11:g.18222421T>C	TOPMed
rs200857632	p.Arg127Leu	missense variant	-	NC_000008.11:g.18222427G>T	ESP,ExAC,TOPMed,gnomAD
rs200857632	p.Arg127His	missense variant	-	NC_000008.11:g.18222427G>A	ESP,ExAC,TOPMed,gnomAD
rs759800046	p.Arg127Cys	missense variant	-	NC_000008.11:g.18222426C>T	ExAC,TOPMed,gnomAD
rs761199497	p.Ser128Leu	missense variant	-	NC_000008.11:g.18222430C>T	ExAC,gnomAD
rs548004925	p.Tyr129Phe	missense variant	-	NC_000008.11:g.18222433A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs548004925	p.Tyr129Cys	missense variant	-	NC_000008.11:g.18222433A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs376036465	p.Gln130His	missense variant	-	NC_000008.11:g.18222437G>C	ExAC,TOPMed,gnomAD
rs754633858	p.Trp132Ter	stop gained	-	NC_000008.11:g.18222443G>A	ExAC,TOPMed,gnomAD
rs1419034037	p.Trp132Ter	stop gained	-	NC_000008.11:g.18222442G>A	gnomAD
rs754633858	p.Trp132Cys	missense variant	-	NC_000008.11:g.18222443G>C	ExAC,TOPMed,gnomAD
rs754633858	p.Trp132Cys	missense variant	-	NC_000008.11:g.18222443G>T	ExAC,TOPMed,gnomAD
rs751206939	p.Trp132Arg	missense variant	-	NC_000008.11:g.18222441T>C	ExAC,gnomAD
rs1346740720	p.Gln133Ter	stop gained	-	NC_000008.11:g.18222444C>T	gnomAD
rs1431281350	p.Pro134Ser	missense variant	-	NC_000008.11:g.18222447C>T	gnomAD
rs1037552428	p.Pro134His	missense variant	-	NC_000008.11:g.18222448C>A	TOPMed
rs1443144991	p.Glu136Lys	missense variant	-	NC_000008.11:g.18222453G>A	gnomAD
rs769863219	p.Glu136Asp	missense variant	-	NC_000008.11:g.18222455G>C	ExAC,TOPMed,gnomAD
rs749235522	p.Ile138Thr	missense variant	-	NC_000008.11:g.18222460T>C	ExAC,TOPMed,gnomAD
rs1287040056	p.Ser139Tyr	missense variant	-	NC_000008.11:g.18222463C>A	gnomAD
rs1239138621	p.Asp142Val	missense variant	-	NC_000008.11:g.18222472A>T	TOPMed
rs770983742	p.Asp142Tyr	missense variant	-	NC_000008.11:g.18222471G>T	ExAC,gnomAD
rs774460271	p.Pro144Ser	missense variant	-	NC_000008.11:g.18222477C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln145His	missense variant	-	NC_000008.11:g.18222482G>T	NCI-TCGA
rs529845573	p.Pro147Ser	missense variant	-	NC_000008.11:g.18222486C>T	1000Genomes,ExAC,gnomAD
rs1390508874	p.Cys148Arg	missense variant	-	NC_000008.11:g.18222489T>C	TOPMed
RCV000455973	p.Val149Ile	missense variant	-	NC_000008.11:g.18222492G>A	ClinVar
rs4987076	p.Val149Ile	missense variant	-	NC_000008.11:g.18222492G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs4987076	p.Val149Leu	missense variant	-	NC_000008.11:g.18222492G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370302501	p.Arg151His	missense variant	-	NC_000008.11:g.18222499G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs760970670	p.Arg151Cys	missense variant	-	NC_000008.11:g.18222498C>T	ExAC,TOPMed,gnomAD
rs370302501	p.Arg151Pro	missense variant	-	NC_000008.11:g.18222499G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762346362	p.Leu152Trp	missense variant	-	NC_000008.11:g.18222502T>G	ExAC,gnomAD
rs374226986	p.Thr153Met	missense variant	-	NC_000008.11:g.18222505C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1392495324	p.Thr153Ala	missense variant	-	NC_000008.11:g.18222504A>G	gnomAD
rs566014052	p.Glu154Gln	missense variant	-	NC_000008.11:g.18222507G>C	1000Genomes,ExAC,gnomAD
rs566014052	p.Glu154Ter	stop gained	-	NC_000008.11:g.18222507G>T	1000Genomes,ExAC,gnomAD
COSM1097649	p.Glu155Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18222512G>T	NCI-TCGA Cosmic
rs752556604	p.Gly157Ter	stop gained	-	NC_000008.11:g.18222516G>T	ExAC,TOPMed,gnomAD
COSM3834359	p.Gly157Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18222516G>A	NCI-TCGA Cosmic
rs756034918	p.Phe158Leu	missense variant	-	NC_000008.11:g.18222519T>C	ExAC,gnomAD
rs1291836193	p.Phe158Leu	missense variant	-	NC_000008.11:g.18222521C>G	gnomAD
rs1255063436	p.Trp159Arg	missense variant	-	NC_000008.11:g.18222522T>C	TOPMed
rs777706725	p.Trp159Cys	missense variant	-	NC_000008.11:g.18222524G>C	ExAC,TOPMed,gnomAD
rs777706725	p.Trp159Cys	missense variant	-	NC_000008.11:g.18222524G>T	ExAC,TOPMed,gnomAD
rs554793519	p.Leu161Pro	missense variant	-	NC_000008.11:g.18222529T>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Leu161Val	missense variant	-	NC_000008.11:g.18222528C>G	NCI-TCGA
COSM1133826	p.Asp162Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18222533C>G	NCI-TCGA Cosmic
rs778884010	p.Arg165Lys	missense variant	-	NC_000008.11:g.18222541G>A	ExAC,gnomAD
rs72554608	p.ArgGlu166ThrGln	missense variant	-	NC_000008.11:g.18222544_18222546inv	-
rs72554608	p.ArgGlu166ThrGln	delins	-	NC_000008.11:g.18222544_18222546inv	UniProt,dbSNP
VAR_009511	p.ArgGlu166ThrGln	delins	-	NC_000008.11:g.18222544_18222546inv	UniProt
rs139028182	p.Gln168His	missense variant	-	NC_000008.11:g.18222551G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln168Arg	missense variant	-	NC_000008.11:g.18222550A>G	NCI-TCGA
COSM1455891	p.Gln168Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18222550A>C	NCI-TCGA Cosmic
rs775745792	p.Tyr169Cys	missense variant	-	NC_000008.11:g.18222553A>G	ExAC,gnomAD
rs1415403353	p.Glu173Lys	missense variant	-	NC_000008.11:g.18222564G>A	TOPMed,gnomAD
rs371668421	p.Glu174Ter	stop gained	-	NC_000008.11:g.18222567G>T	ESP,ExAC,TOPMed,gnomAD
rs371668421	p.Glu174Lys	missense variant	-	NC_000008.11:g.18222567G>A	ESP,ExAC,TOPMed,gnomAD
rs762246777	p.Phe175Leu	missense variant	-	NC_000008.11:g.18222570T>C	ExAC,gnomAD
rs765738013	p.Leu176Ile	missense variant	-	NC_000008.11:g.18222573C>A	ExAC,TOPMed,gnomAD
rs765738013	p.Leu176Phe	missense variant	-	NC_000008.11:g.18222573C>T	ExAC,TOPMed,gnomAD
rs773741828	p.His177Leu	missense variant	-	NC_000008.11:g.18222577A>T	ExAC,gnomAD
rs1009215309	p.Asp179Asn	missense variant	-	NC_000008.11:g.18222582G>A	TOPMed
rs1022148954	p.Asp179Glu	missense variant	-	NC_000008.11:g.18222584T>A	TOPMed
rs987151115	p.Asp179Val	missense variant	-	NC_000008.11:g.18222583A>T	TOPMed
rs1357745556	p.Ser184Gly	missense variant	-	NC_000008.11:g.18222597A>G	gnomAD
rs5030839	p.Arg187Ter	stop gained	-	NC_000008.11:g.18222606C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs4986782	p.Arg187Gln	missense variant	-	NC_000008.11:g.18222607G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1017403408	p.Tyr190Asn	missense variant	-	NC_000008.11:g.18222615T>A	gnomAD
rs141552883	p.Ser191Phe	missense variant	-	NC_000008.11:g.18222619C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser191Cys	missense variant	-	NC_000008.11:g.18222619C>G	NCI-TCGA
rs1438261068	p.Phe192Val	missense variant	-	NC_000008.11:g.18222621T>G	gnomAD
NCI-TCGA novel	p.Phe192Cys	missense variant	-	NC_000008.11:g.18222622T>G	NCI-TCGA
NCI-TCGA novel	p.Leu194Val	missense variant	-	NC_000008.11:g.18222627C>G	NCI-TCGA
rs1486518987	p.Lys195Ter	stop gained	-	NC_000008.11:g.18222630A>T	TOPMed,gnomAD
rs1188424795	p.Lys195Arg	missense variant	-	NC_000008.11:g.18222631A>G	gnomAD
rs757144152	p.Pro196Ser	missense variant	-	NC_000008.11:g.18222633C>T	ExAC,gnomAD
rs778732687	p.Arg197Gly	missense variant	-	NC_000008.11:g.18222636C>G	ExAC,TOPMed,gnomAD
rs778732687	p.Arg197Ter	stop gained	-	NC_000008.11:g.18222636C>T	ExAC,TOPMed,gnomAD
rs1044890902	p.Arg197Gln	missense variant	-	NC_000008.11:g.18222637G>A	TOPMed,gnomAD
rs1168975907	p.Thr198Pro	missense variant	-	NC_000008.11:g.18222639A>C	TOPMed,gnomAD
rs144790969	p.Ile199Thr	missense variant	-	NC_000008.11:g.18222643T>C	ESP,ExAC,gnomAD
rs780073557	p.Ile199Val	missense variant	-	NC_000008.11:g.18222642A>G	ExAC,gnomAD
rs768813958	p.Asp201Val	missense variant	-	NC_000008.11:g.18222649A>T	ExAC,TOPMed,gnomAD
rs768813958	p.Asp201Gly	missense variant	-	NC_000008.11:g.18222649A>G	ExAC,TOPMed,gnomAD
rs1428225257	p.Glu203Gln	missense variant	-	NC_000008.11:g.18222654G>C	gnomAD
rs776888648	p.Glu203Asp	missense variant	-	NC_000008.11:g.18222656G>C	ExAC,TOPMed,gnomAD
rs1339465727	p.Ser204Thr	missense variant	-	NC_000008.11:g.18222657T>A	gnomAD
NCI-TCGA novel	p.Ser204Phe	missense variant	-	NC_000008.11:g.18222658C>T	NCI-TCGA
rs72554609	p.Met205Val	missense variant	-	NC_000008.11:g.18222660A>G	UniProt,dbSNP
VAR_009070	p.Met205Val	missense variant	-	NC_000008.11:g.18222660A>G	UniProt
rs72554609	p.Met205Val	missense variant	-	NC_000008.11:g.18222660A>G	ESP,ExAC,TOPMed,gnomAD
rs1231690763	p.Met205Thr	missense variant	-	NC_000008.11:g.18222661T>C	TOPMed
rs1346668677	p.Asn206Thr	missense variant	-	NC_000008.11:g.18222664A>C	TOPMed
rs4987195	p.Thr207Ile	missense variant	-	NC_000008.11:g.18222667C>T	ESP,ExAC,TOPMed,gnomAD
rs773830510	p.Tyr208His	missense variant	-	NC_000008.11:g.18222669T>C	ExAC,TOPMed,gnomAD
rs763554945	p.Leu209Gln	missense variant	-	NC_000008.11:g.18222673T>A	ExAC,gnomAD
rs767176233	p.Gln210Ter	stop gained	-	NC_000008.11:g.18222675C>T	ExAC,gnomAD
rs4986783	p.Ser214Ala	missense variant	-	NC_000008.11:g.18222687T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1171885310	p.Phe217Leu	missense variant	-	NC_000008.11:g.18222696T>C	gnomAD
rs1171885310	p.Phe217Val	missense variant	-	NC_000008.11:g.18222696T>G	gnomAD
rs760427743	p.Thr218Asn	missense variant	-	NC_000008.11:g.18222700C>A	ExAC,gnomAD
rs941561436	p.Lys220Ile	missense variant	-	NC_000008.11:g.18222706A>T	TOPMed
rs1434378503	p.Ser221Leu	missense variant	-	NC_000008.11:g.18222709C>T	TOPMed
rs753587469	p.Cys223Ser	missense variant	-	NC_000008.11:g.18222715G>C	ExAC,TOPMed,gnomAD
rs753587469	p.Cys223Tyr	missense variant	-	NC_000008.11:g.18222715G>A	ExAC,TOPMed,gnomAD
rs905333539	p.Ser224Phe	missense variant	-	NC_000008.11:g.18222718C>T	gnomAD
rs905333539	p.Ser224Tyr	missense variant	-	NC_000008.11:g.18222718C>A	gnomAD
rs1170029643	p.Thr227Ser	missense variant	-	NC_000008.11:g.18222727C>G	TOPMed
rs762091516	p.Gly230Val	missense variant	-	NC_000008.11:g.18222736G>T	ExAC,gnomAD
rs764935585	p.Gly230Arg	missense variant	-	NC_000008.11:g.18222735G>A	ExAC,gnomAD
rs762091516	p.Gly230Glu	missense variant	-	NC_000008.11:g.18222736G>A	ExAC,gnomAD
rs201916736	p.Val231Phe	missense variant	-	NC_000008.11:g.18222738G>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Val231CysPheSerTerUnk	stop gained	-	NC_000008.11:g.18222736_18222737insATGTTAA	NCI-TCGA
rs1437244884	p.His232Gln	missense variant	-	NC_000008.11:g.18222743C>G	gnomAD
rs1373006372	p.Cys233Gly	missense variant	-	NC_000008.11:g.18222744T>G	gnomAD
rs1373006372	p.Cys233Arg	missense variant	-	NC_000008.11:g.18222744T>C	gnomAD
rs371915822	p.Thr240Ile	missense variant	-	NC_000008.11:g.18222766C>T	ESP,ExAC,TOPMed,gnomAD
rs1468222480	p.His241Pro	missense variant	-	NC_000008.11:g.18222769A>C	gnomAD
rs375989454	p.His241Gln	missense variant	-	NC_000008.11:g.18222770T>G	ESP,ExAC,TOPMed,gnomAD
rs375989454	p.His241Gln	missense variant	-	NC_000008.11:g.18222770T>A	ESP,ExAC,TOPMed,gnomAD
rs1285170236	p.His241Tyr	missense variant	-	NC_000008.11:g.18222768C>T	gnomAD
rs748308092	p.Arg242Gly	missense variant	-	NC_000008.11:g.18222771A>G	ExAC,gnomAD
rs1346325688	p.Arg242Lys	missense variant	-	NC_000008.11:g.18222772G>A	gnomAD
rs201129487	p.Tyr246Cys	missense variant	-	NC_000008.11:g.18222784A>G	1000Genomes,ExAC,gnomAD
COSM4898600	p.Lys247Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18222787A>G	NCI-TCGA Cosmic
rs771519872	p.Lys247Met	missense variant	-	NC_000008.11:g.18222787A>T	ExAC,TOPMed
rs370049063	p.Asn249Asp	missense variant	-	NC_000008.11:g.18222792A>G	ESP,ExAC,TOPMed,gnomAD
rs768034302	p.Asn249Ser	missense variant	-	NC_000008.11:g.18222793A>G	ExAC,gnomAD
rs776407561	p.Thr250Ile	missense variant	-	NC_000008.11:g.18222796C>T	ExAC,gnomAD
rs56172717	p.Asp251Val	missense variant	-	NC_000008.11:g.18222799A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs56172717	p.Asp251Val	missense variant	-	NC_000008.11:g.18222799A>T	UniProt,dbSNP
VAR_009072	p.Asp251Val	missense variant	-	NC_000008.11:g.18222799A>T	UniProt
rs1357252117	p.Leu252Ile	missense variant	-	NC_000008.11:g.18222801C>A	TOPMed
rs750169788	p.Glu254Asp	missense variant	-	NC_000008.11:g.18222809G>C	ExAC,gnomAD
rs1193669448	p.Glu254Gly	missense variant	-	NC_000008.11:g.18222808A>G	TOPMed,gnomAD
rs1333940244	p.Leu258Pro	missense variant	-	NC_000008.11:g.18222820T>C	gnomAD
rs762908192	p.Leu258Val	missense variant	-	NC_000008.11:g.18222819C>G	ExAC
rs4986991	p.Ser259Arg	missense variant	-	NC_000008.11:g.18222824T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759272916	p.Glu260Ala	missense variant	-	NC_000008.11:g.18222826A>C	ExAC,TOPMed,gnomAD
rs72554610	p.Glu261Lys	missense variant	-	NC_000008.11:g.18222828G>A	UniProt,dbSNP
VAR_009073	p.Glu261Lys	missense variant	-	NC_000008.11:g.18222828G>A	UniProt
rs72554610	p.Glu261Lys	missense variant	-	NC_000008.11:g.18222828G>A	ExAC,TOPMed,gnomAD
rs1212053563	p.Glu261Gly	missense variant	-	NC_000008.11:g.18222829A>G	gnomAD
rs1007452700	p.Glu262Gln	missense variant	-	NC_000008.11:g.18222831G>C	TOPMed,gnomAD
COSM1097651	p.Ile263Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18222835T>G	NCI-TCGA Cosmic
rs753003232	p.Ile263Thr	missense variant	-	NC_000008.11:g.18222835T>C	ExAC,TOPMed,gnomAD
rs72554611	p.Ile263Val	missense variant	-	NC_000008.11:g.18222834A>G	TOPMed
rs72554611	p.Ile263Val	missense variant	-	NC_000008.11:g.18222834A>G	UniProt,dbSNP
VAR_009074	p.Ile263Val	missense variant	-	NC_000008.11:g.18222834A>G	UniProt
rs1017952816	p.Glu264Gln	missense variant	-	NC_000008.11:g.18222837G>C	TOPMed,gnomAD
rs767117934	p.Val266Met	missense variant	-	NC_000008.11:g.18222843G>A	ExAC,TOPMed,gnomAD
rs767117934	p.Val266Leu	missense variant	-	NC_000008.11:g.18222843G>C	ExAC,TOPMed,gnomAD
rs778308629	p.Lys268Glu	missense variant	-	NC_000008.11:g.18222849A>G	ExAC,TOPMed,gnomAD
rs771571411	p.Ile270Met	missense variant	-	NC_000008.11:g.18222857A>G	ExAC,TOPMed,gnomAD
rs1162315885	p.Ile270Val	missense variant	-	NC_000008.11:g.18222855A>G	TOPMed,gnomAD
rs779619721	p.Phe271Leu	missense variant	-	NC_000008.11:g.18222858T>C	ExAC
rs1029808953	p.Ile273Thr	missense variant	-	NC_000008.11:g.18222865T>C	TOPMed
rs768248406	p.Ser274Cys	missense variant	-	NC_000008.11:g.18222868C>G	ExAC,gnomAD
rs775977591	p.Leu275Phe	missense variant	-	NC_000008.11:g.18222872G>T	ExAC,gnomAD
COSM4848479	p.Gln276His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18222875G>C	NCI-TCGA Cosmic
rs761549357	p.Lys278Asn	missense variant	-	NC_000008.11:g.18222881G>T	ExAC,gnomAD
rs1329540913	p.Val280Met	missense variant	-	NC_000008.11:g.18222885G>A	gnomAD
rs1231281905	p.Pro281Thr	missense variant	-	NC_000008.11:g.18222888C>A	gnomAD
rs1014599491	p.His283Arg	missense variant	-	NC_000008.11:g.18222895A>G	TOPMed,gnomAD
rs1004431924	p.His283Asn	missense variant	-	NC_000008.11:g.18222894C>A	TOPMed
rs1389255907	p.Gly284Asp	missense variant	-	NC_000008.11:g.18222898G>A	gnomAD
rs762676638	p.Gly284Ser	missense variant	-	NC_000008.11:g.18222897G>A	ExAC,gnomAD
rs762676638	p.Gly284Arg	missense variant	-	NC_000008.11:g.18222897G>C	ExAC,gnomAD
rs751565644	p.Arg286Ter	stop gained	-	NC_000008.11:g.18222903A>T	ExAC,TOPMed,gnomAD
rs751565644	p.Arg286Gly	missense variant	-	NC_000008.11:g.18222903A>G	ExAC,TOPMed,gnomAD
rs1257490235	p.Phe287Ser	missense variant	-	NC_000008.11:g.18222907T>C	gnomAD
rs759361275	p.Phe287Val	missense variant	-	NC_000008.11:g.18222906T>G	ExAC,gnomAD
rs1257490235	p.Phe287Tyr	missense variant	-	NC_000008.11:g.18222907T>A	gnomAD
rs761982912	p.Thr289TyrPheSerTerUnk	frameshift	-	NC_000008.11:g.18222905_18222906insT	NCI-TCGA
NCI-TCGA novel	p.Thr289Ala	missense variant	-	NC_000008.11:g.18222912A>G	NCI-TCGA
rs529715867	p.Ile290Val	missense variant	-	NC_000008.11:g.18222915A>G	1000Genomes,ExAC,gnomAD
rs1401778047	p.Ter291Gln	stop lost	-	NC_000008.11:g.18222918T>C	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0001418	Adenocarcinoma	group	LHGDN
C0001430	Adenoma	group	BEFREE
C0001973	Alcoholic Intoxication, Chronic	disease	BEFREE;PSYGENET
C0004096	Asthma	disease	LHGDN
C0004403	Autosome Abnormalities	group	CTD_human
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE;CTD_human
C0005695	Bladder Neoplasm	group	BEFREE;CTD_human;LHGDN
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006826	Malignant Neoplasms	group	CTD_human
C0006840	Candidiasis	disease	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE
C0008625	Chromosome Aberrations	group	CTD_human
C0008626	Congenital chromosomal disease	group	BEFREE
C0009324	Ulcerative Colitis	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009404	Colorectal Neoplasms	group	BEFREE;LHGDN
C0013221	Drug toxicity	group	CTD_human
C0019163	Hepatitis B	disease	BEFREE
C0021368	Inflammation	phenotype	LHGDN
C0023055	Laryngeal neoplasm	disease	LHGDN
C0023418	leukemia	disease	LHGDN
C0023434	Chronic Lymphocytic Leukemia	disease	BEFREE
C0023449	Acute lymphocytic leukemia	disease	BEFREE
C0023487	Acute Promyelocytic Leukemia	disease	BEFREE
C0024121	Lung Neoplasms	group	BEFREE
C0024141	Lupus Erythematosus, Systemic	disease	BEFREE;LHGDN
C0024299	Lymphoma	group	BEFREE
C0024301	Lymphoma, Follicular	disease	BEFREE
C0024305	Lymphoma, Non-Hodgkin	disease	BEFREE;LHGDN
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0026764	Multiple Myeloma	disease	BEFREE
C0026769	Multiple Sclerosis	disease	BEFREE
C0027651	Neoplasms	group	CTD_human
C0027819	Neuroblastoma	group	BEFREE
C0028796	Dermatitis, Occupational	disease	CTD_human
C0032580	Adenomatous Polyposis Coli	disease	BEFREE
C0032584	polyps	phenotype	BEFREE
C0033578	Prostatic Neoplasms	group	BEFREE;CTD_human;LHGDN
C0033860	Psoriasis	disease	LHGDN
C0041755	Adverse reaction to drug	group	CTD_human
C0079772	T-Cell Lymphoma	disease	BEFREE
C0080178	Spina Bifida	disease	BEFREE;LHGDN
C0086457	Industrial Dermatosis	disease	CTD_human
C0086692	Benign Neoplasm	group	CTD_human
C0153381	Malignant neoplasm of mouth	disease	BEFREE
C0206698	Cholangiocarcinoma	disease	LHGDN
C0220641	Lip and Oral Cavity Carcinoma	disease	BEFREE
C0220810	Congenital defects	group	BEFREE
C0235974	Pancreatic carcinoma	disease	BEFREE
C0238033	Carcinoma of Male Breast	disease	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0242787	Malignant neoplasm of male breast	disease	BEFREE
C0264423	Asthma, Occupational	disease	BEFREE
C0268398	Familial lichen amyloidosis	disease	BEFREE
C0278701	Gastric Adenocarcinoma	disease	BEFREE
C0281361	Adenocarcinoma of pancreas	disease	BEFREE
C0333983	Hyperplastic Polyp	disease	BEFREE
C0338106	Adenocarcinoma of colon	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE;CTD_human
C0546837	Malignant neoplasm of esophagus	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0598766	Leukemogenesis	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0699885	Carcinoma of bladder	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C0747845	early pregnancy	phenotype	BEFREE
C0751688	Malignant Squamous Cell Neoplasm	disease	BEFREE
C0920506	Environment-Related Malignant Neoplasm	disease	BEFREE
C0949059	Polyp of large intestine	disease	BEFREE
C1168401	Squamous cell carcinoma of the head and neck	disease	BEFREE
C1302401	Adenoma of large intestine	disease	BEFREE
C1302547	Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma	disease	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1319315	Adenocarcinoma of large intestine	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE;LHGDN
C1527249	Colorectal Cancer	disease	BEFREE
C1827377	Slow acetylator due to N-acetyltransferase enzyme variant	disease	BEFREE
C1827820	Fast acetylator due to N-acetyltransferase enzyme variant	disease	BEFREE
C1840311	Laryngeal cleft	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C3266076	Orofacial cleft	disease	BEFREE
C3539909	Allergic disposition	phenotype	BEFREE
C3642345	Luminal A Breast Carcinoma	disease	BEFREE
C3662483	Allergic sensitization	disease	BEFREE
C4086165	Childhood Neuroblastoma	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004060	arylamine N-acetyltransferase activity	IBA
GO:0004060	arylamine N-acetyltransferase activity	TAS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006805	xenobiotic metabolic process	TAS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005829	cytosol	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-156580	Phase II - Conjugation of compounds	TAS
R-HSA-156582	Acetylation	TAS
R-HSA-211859	Biological oxidations	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C049325	1,2-dithiol-3-thione	1,2-dithiol-3-thione results in decreased expression of NAT1 mRNA	19162173
C015262	1,6-hexamethylene diisocyanate	NAT1 protein polymorphism results in increased susceptibility to 1,6-hexamethylene diisocyanate	11927838
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether analog results in decreased expression of NAT1 mRNA	19095052
C001042	2',3-dimethyl-4-aminobiphenyl	NAT1 protein results in increased acetylation of 2',3-dimethyl-4-aminobiphenyl	12618593; 8425184;
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of NAT1 mRNA	21346803
D015073	2-Acetylaminofluorene	2-Acetylaminofluorene analog results in decreased activity of NAT1 protein	15025497
D015073	2-Acetylaminofluorene	NAT1 protein results in decreased acetylation of 2-Acetylaminofluorene	15025497
D015073	2-Acetylaminofluorene	NAT1 protein results in increased activity of 2-Acetylaminofluorene	15450435
C049584	2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine	2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine results in increased expression of NAT1 mRNA	31542801
C049584	2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine	NAT1 protein affects the susceptibility to 2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine	18499698
C012177	2-aminofluorene	NAT1 protein results in increased acetylation of 2-aminofluorene	15627487; 15796204; 16003948;
C012177	2-aminofluorene	NAT1 protein results in increased metabolism of 2-aminofluorene	30358977
C012177	2-aminofluorene	NAT1 protein results in increased acetylation of 2-aminofluorene	12618593; 8425184;
C012177	2-aminofluorene	NAT1 protein results in increased metabolism of 2-aminofluorene	16815960
C012177	2-aminofluorene	NAT1 protein results in increased acetylation of 2-aminofluorene	15796213
C003898	2-anisidine	NAT1 protein results in increased activity of 2-anisidine	15450435
C075748	2-(bromoacetylamino)fluorene	2-(bromoacetylamino)fluorene results in decreased activity of NAT1 protein	14714730
C075748	2-(bromoacetylamino)fluorene	2-(bromoacetylamino)fluorene results in decreased activity of and results in increased alkylation of NAT1 protein	15106881
C060533	2-hydroxyamino-1-methyl-6-phenylimidazo(4,5-b)pyridine	NAT1 protein affects the acetylation of and affects the activity of 2-hydroxyamino-1-methyl-6-phenylimidazo(4,5-b)pyridine	11505221
C060533	2-hydroxyamino-1-methyl-6-phenylimidazo(4,5-b)pyridine	NAT1 protein results in increased metabolism of 2-hydroxyamino-1-methyl-6-phenylimidazo(4,5-b)pyridine	29596660
C060533	2-hydroxyamino-1-methyl-6-phenylimidazo(4,5-b)pyridine	NAT1 protein results in increased acetylation of 2-hydroxyamino-1-methyl-6-phenylimidazo(4,5-b)pyridine	12618593
D015081	2-Naphthylamine	NAT1 protein results in increased activity of 2-Naphthylamine	15450435
D015081	2-Naphthylamine	NAT1 protein results in increased acetylation of 2-Naphthylamine	12618593
C009501	2-tolidine	NAT1 protein results in increased activity of 2-tolidine	15450435
C117220	3-nitrobenzanthrone	NAT1 protein results in increased activity of 3-nitrobenzanthrone	15805261
C117220	3-nitrobenzanthrone	[NQO1 protein co-treated with NADP co-treated with Acetyl Coenzyme A co-treated with NAT1 protein] results in increased activity of and results in increased reduction of 3-nitrobenzanthrone	20545351
C009505	4,4'-diaminodiphenylmethane	NAT1 protein results in increased acetylation of 4,4'-diaminodiphenylmethane	16192314
C005969	4,4'-diphenylmethane diisocyanate	NAT1 protein polymorphism results in increased susceptibility to 4,4'-diphenylmethane diisocyanate	11927838
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with p-Chloromercuribenzoic 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 NAT1 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 NAT1 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 NAT1 mRNA	27188386
C538896	4-amino-2-hydroxytoluene	NAT1 protein results in increased acetylation of 4-amino-2-hydroxytoluene	19100279
D010129	4-Aminobenzoic Acid	NAT1 protein results in increased acetylation of 4-Aminobenzoic Acid	14508638
D010129	4-Aminobenzoic Acid	Dehydroepiandrosterone Sulfate inhibits the reaction [NAT1 protein results in increased acetylation of 4-Aminobenzoic Acid]	11470991
D010129	4-Aminobenzoic Acid	Dehydroepiandrosterone Sulfate promotes the reaction [NAT1 protein results in increased acetylation of 4-Aminobenzoic Acid]	11470991
D010129	4-Aminobenzoic Acid	NAT1 protein affects the acetylation of 4-Aminobenzoic Acid	29043425
D010129	4-Aminobenzoic Acid	NAT1 protein results in increased acetylation of 4-Aminobenzoic Acid	11470991; 15627487; 15880531; 16003948; 23958860;
D010129	4-Aminobenzoic Acid	NAT1 protein results in increased metabolism of 4-Aminobenzoic Acid	30358977
D010129	4-Aminobenzoic Acid	Pentachlorophenol inhibits the reaction [NAT1 protein results in increased acetylation of 4-Aminobenzoic Acid]	11470991
D010129	4-Aminobenzoic Acid	NAT1 protein results in increased acetylation of 4-Aminobenzoic Acid	12618593
C026729	4-aminophenol	NAT1 protein results in increased acetylation of 4-aminophenol	8425184
C013813	4-anisidine	NAT1 protein results in increased acetylation of 4-anisidine	15627487
C006757	4-biphenylamine	NAT1 mRNA alternative form affects the susceptibility to 4-biphenylamine	21837760
C006757	4-biphenylamine	NAT1 polymorphism results in increased susceptibility to 4-biphenylamine	22114069
C006757	4-biphenylamine	[NAT1 polymorphism results in increased susceptibility to 4-biphenylamine] which results in increased mutagenesis of HPRT1 gene	22114069
C006757	4-biphenylamine	NAT1 protein polymorphism results in increased acetylation of 4-biphenylamine	22010219
C006757	4-biphenylamine	NAT1 protein polymorphism results in increased susceptibility to 4-biphenylamine	22010219
C006757	4-biphenylamine	NAT1 protein results in increased acetylation of 4-biphenylamine	12088197; 22010219;
C006757	4-biphenylamine	NAT1 protein results in increased activity of 4-biphenylamine	15450435
C006757	4-biphenylamine	NAT1 protein results in increased acetylation of 4-biphenylamine	8425184
C006757	4-biphenylamine	NAT1 protein results in increased metabolism of 4-biphenylamine	16815960
C006757	4-biphenylamine	NAT1 protein results in increased metabolism of 4-biphenylamine	21837760
C023621	4-bromoaniline	NAT1 protein results in increased acetylation of 4-bromoaniline	15627487
C004658	4-chloroaniline	NAT1 protein results in increased acetylation of 4-chloroaniline	15627487
C013067	4-iodoaniline	NAT1 protein results in increased acetylation of 4-iodoaniline	15627487
C029728	4-phenylenediamine	4-phenylenediamine results in decreased activity of and results in decreased expression of NAT1 protein	20406859
C029728	4-phenylenediamine	NAT1 protein results in increased acetylation of 4-phenylenediamine	15350687
C017429	5-iodosalicylic acid	5-iodosalicylic acid results in decreased activity of NAT1 protein	15450435
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in increased expression of NAT1 mRNA	19150397
C421010	9-(4'-aminophenyl)-9H-pyrido(3,4-b)indole	NAT1 protein affects the metabolism of 9-(4'-aminophenyl)-9H-pyrido(3,4-b)indole	17067997
C496492	abrine	abrine results in decreased expression of NAT1 mRNA	31054353
D000082	Acetaminophen	Acetaminophen affects the expression of NAT1 mRNA	17562736
D000082	Acetaminophen	Acetaminophen results in increased expression of NAT1 protein	16538041
D000105	Acetyl Coenzyme A	Acetyl Coenzyme A binds to NAT1 protein	22835378
D000105	Acetyl Coenzyme A	Acetyl Coenzyme A inhibits the reaction [Cyanamide results in decreased activity of NAT1 protein]	22835378
D000105	Acetyl Coenzyme A	Acetyl Coenzyme A inhibits the reaction [Iodoacetamide results in decreased activity of NAT1 protein]	22835378
D000105	Acetyl Coenzyme A	[NQO1 protein co-treated with NADP co-treated with Acetyl Coenzyme A co-treated with NAT1 protein] results in increased activity of and results in increased reduction of 3-nitrobenzanthrone	20545351
D000336	Aerosols	Aerosols affects the expression of NAT1 mRNA	29505817
D000336	Aerosols	Aerosols results in decreased expression of NAT1 mRNA	29501877
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of NAT1 gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of NAT1 mRNA	31542801
D016604	Aflatoxin B1	[CYP3A7 co-treated with NAT1] results in increased susceptibility to Aflatoxin B1	7625840
C518327	aloe emodin	aloe emodin results in decreased expression of and results in decreased activity of NAT1 protein	16314733
C518327	aloe emodin	aloe emodin results in decreased expression of NAT1 mRNA	16314733
D000535	Aluminum	[APP protein modified form binds to Aluminum] which results in decreased expression of NAT1 mRNA	21298039
D000588	Amines	NAT1 protein results in increased acetylation of Amines	15122594
D010131	Aminosalicylic Acid	NAT1 protein results in increased acetylation of Aminosalicylic Acid	15627487; 16003948;
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of NAT1 mRNA	16483693
D000814	Aniline Compounds	NAT1 protein results in increased acetylation of Aniline Compounds analog	15627487
D018501	Antirheumatic Agents	Antirheumatic Agents results in decreased expression of NAT1 mRNA	24449571
D001241	Aspirin	Aspirin results in decreased activity of NAT1 protein	15796213
C006680	baicalein	baicalein results in decreased expression of NAT1 mRNA	15796204
C006680	baicalein	baicalein results in decreased expression of NAT1 protein	15796204
C029876	benzidine	NAT1 protein results in increased activity of benzidine	15450435
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of NAT1 mRNA	31542801
D001564	Benzo(a)pyrene	NAT1 protein affects the susceptibility to Benzo(a)pyrene	18499698
C099952	bifenthrin	bifenthrin results in increased expression of NAT1 mRNA	26071804
C006780	bisphenol A	bisphenol A affects the expression of NAT1 mRNA	25181051
C056005	bromoacetanilide	bromoacetanilide results in decreased activity of NAT1 protein	14714730
C056005	bromoacetanilide	bromoacetanilide results in decreased activity of and results in increased alkylation of NAT1 protein	15106881
D020148	Butyric Acid	Butyric Acid results in increased expression of NAT1 mRNA	30439556
D019256	Cadmium Chloride	Cadmium Chloride binds to and results in decreased activity of NAT1 protein	20810355
D019256	Cadmium Chloride	Cadmium Chloride results in decreased methylation of NAT1 promoter	22457795
D002117	Calcitriol	Calcitriol results in increased expression of NAT1 mRNA	21592394
D002117	Calcitriol	[Testosterone co-treated with Calcitriol] results in increased expression of NAT1 mRNA	21592394
D002220	Carbamazepine	Carbamazepine results in increased expression of NAT1 mRNA	17112801
D002338	Carotenoids	NAT1 protein polymorphism affects the susceptibility to Carotenoids	15095308
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in increased expression of NAT1 mRNA	17851650
D002995	Clofibric Acid	Clofibric Acid affects the expression of NAT1 mRNA	17602206
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of NAT1 mRNA	24386269
D003367	Cotinine	NAT1 gene polymorphism affects the abundance of Cotinine	25156213
D003367	Cotinine	NAT1 gene polymorphism affects the reaction [Tobacco Smoke Pollution results in increased abundance of Cotinine]	25156213
D003484	Cyanamide	Acetyl Coenzyme A inhibits the reaction [Cyanamide results in decreased activity of NAT1 protein]	22835378
D003484	Cyanamide	Cyanamide results in decreased activity of NAT1 protein	22835378
D016572	Cyclosporine	Cyclosporine results in decreased expression of NAT1 mRNA	20106945; 23830897;
D016572	Cyclosporine	Cyclosporine results in decreased expression of NAT1 mRNA	23830897
C089595	cylindrospermopsin	cylindrospermopsin results in increased expression of NAT1 mRNA	23726867
D019314	Dehydroepiandrosterone Sulfate	Dehydroepiandrosterone Sulfate inhibits the reaction [NAT1 protein results in increased acetylation of 4-Aminobenzoic Acid]	11470991
D019314	Dehydroepiandrosterone Sulfate	Dehydroepiandrosterone Sulfate promotes the reaction [NAT1 protein results in increased acetylation of 4-Aminobenzoic Acid]	11470991
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of NAT1 mRNA	21266533
C000944	dicrotophos	dicrotophos results in decreased expression of NAT1 mRNA	28302478
D004052	Diethylnitrosamine	Diethylnitrosamine results in decreased expression of NAT1 mRNA	21527772
D004052	Diethylnitrosamine	Diethylnitrosamine results in decreased expression of NAT1 mRNA	24535843
C010920	dihydrofolate	dihydrofolate results in decreased activity of NAT1 protein	16003948
D013196	Dihydrotestosterone	Dihydrotestosterone results in increased expression of NAT1 mRNA	29581250
D004229	Dithiothreitol	Dithiothreitol inhibits the reaction [Hydrogen Peroxide results in decreased activity of NAT1 protein]	22835378
D004229	Dithiothreitol	Dithiothreitol results in increased activity of NAT1 protein	22835378
C516138	dorsomorphin	[NOG protein co-treated with p-Chloromercuribenzoic 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 NAT1 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 NAT1 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 NAT1 mRNA	27188386
D004726	Endosulfan	Endosulfan results in decreased expression of NAT1 mRNA	29391264
D004785	Environmental Pollutants	Environmental Pollutants affects the expression of NAT1 mRNA	19118595
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of NAT1 mRNA	22079256
D004958	Estradiol	[Estradiol co-treated with Progesterone] results in increased expression of NAT1 mRNA	20660070
D004958	Estradiol	[Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of NAT1 mRNA	19619570
D004958	Estradiol	Estradiol results in decreased expression of NAT1 mRNA	23019147
D004958	Estradiol	Estradiol results in increased expression of NAT1 mRNA	19619570
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in increased expression of NAT1 mRNA	23649840
D005419	Flavonoids	Flavonoids results in decreased expression of NAT1 mRNA	18035473
D005485	Flutamide	Flutamide results in increased expression of NAT1 mRNA	24793618
D005492	Folic Acid	Folic Acid results in decreased activity of NAT1 protein	16003948
D005492	Folic Acid	Folic Acid results in decreased activity of NAT1 protein modified form	16003948
D005492	Folic Acid	NAT1 protein results in increased acetylation of Folic Acid metabolite	15627487
D005557	Formaldehyde	Formaldehyde results in increased expression of NAT1 mRNA	23649840
C023847	Glu-P-2	NAT1 protein results in increased acetylation of Glu-P-2	8425184
D006202	Hair Dyes	NAT1 protein polymorphism affects the susceptibility to Hair Dyes	12663508
D006861	Hydrogen Peroxide	Dithiothreitol inhibits the reaction [Hydrogen Peroxide results in decreased activity of NAT1 protein]	22835378
D006861	Hydrogen Peroxide	Hydrogen Peroxide results in decreased activity of NAT1 protein	15644493; 19248797; 22835378;
D006881	Hydroxyacetylaminofluorene	Hydroxyacetylaminofluorene results in decreased activity of NAT1 protein	15720122
D006881	Hydroxyacetylaminofluorene	Hydroxyacetylaminofluorene results in decreased activity of NAT1 protein	19842618
D007213	Indomethacin	Indomethacin results in increased expression of NAT1 mRNA	16184411
D007460	Iodoacetamide	Acetyl Coenzyme A inhibits the reaction [Iodoacetamide results in decreased activity of NAT1 protein]	22835378
D007460	Iodoacetamide	Iodoacetamide results in decreased activity of NAT1 protein	22835378
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of NAT1 mRNA	25613284
C008261	lead acetate	lead acetate results in increased expression of NAT1 mRNA	22609695
C533894	LG 100815	LG 100815 results in decreased expression of NAT1 mRNA	16951191
C002385	linsidomine	linsidomine results in decreased activity of NAT1 protein	14672957
C042720	mercuric bromide	mercuric bromide results in increased expression of NAT1 mRNA	26272509
D008628	Mercury	Mercury binds to and results in decreased activity of NAT1 protein	20591428
D019804	Mesalamine	NAT1 protein results in increased acetylation of Mesalamine	15627487
D008701	Methapyrilene	Methapyrilene results in decreased expression of NAT1 mRNA	30467583
D008727	Methotrexate	Methotrexate results in decreased activity of NAT1 protein	16003948
D008727	Methotrexate	Methotrexate results in decreased activity of NAT1 protein modified form	16003948
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of NAT1 mRNA	23179753; 27188386;
D008767	Methylmercury Compounds	Methylmercury Compounds binds to and results in decreased activity of NAT1 protein	20591428
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of NAT1 mRNA	23649840
C000627226	momfluorothrin	momfluorothrin results in decreased expression of NAT1 mRNA	28520973
D009249	NADP	[NQO1 protein co-treated with NADP co-treated with Acetyl Coenzyme A co-treated with NAT1 protein] results in increased activity of and results in increased reduction of 3-nitrobenzanthrone	20545351
C001368	N-hydroxy-2-aminofluorene	NAT1 protein results in increased acetylation of N-hydroxy-2-aminofluorene	12088197
C001368	N-hydroxy-2-aminofluorene	NAT1 protein results in increased acetylation of N-hydroxy-2-aminofluorene	12618593; 8425184;
C001365	N-hydroxy-4-acetylaminobiphenyl	N-hydroxy-4-acetylaminobiphenyl results in decreased activity of NAT1 protein	15720122
C014593	N-hydroxy-4-aminobiphenyl	NAT1 protein results in increased acetylation of N-hydroxy-4-aminobiphenyl	12618593
C014707	nitrosobenzylmethylamine	nitrosobenzylmethylamine results in increased expression of NAT1 mRNA	17616710
C062198	octa-2,4,6-trienoic acid	octa-2,4,6-trienoic acid results in decreased expression of NAT1 mRNA	16951191
D017239	Paclitaxel	Paclitaxel results in decreased activity of NAT1 mRNA	17564303
D017239	Paclitaxel	Paclitaxel results in decreased activity of NAT1 protein	17564303
D017239	Paclitaxel	Paclitaxel results in decreased expression of NAT1 mRNA	15015580
D020245	p-Chloromercuribenzoic Acid	[NOG protein co-treated with p-Chloromercuribenzoic 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 NAT1 mRNA	27188386
D020245	p-Chloromercuribenzoic Acid	p-Chloromercuribenzoic Acid results in increased expression of NAT1 mRNA	26272509
C086401	pentabromodiphenyl ether	pentabromodiphenyl ether analog results in decreased expression of NAT1 mRNA	19095052
D010416	Pentachlorophenol	Pentachlorophenol inhibits the reaction [NAT1 protein results in increased acetylation of 4-Aminobenzoic Acid]	11470991
D010416	Pentachlorophenol	Pentachlorophenol results in decreased activity of NAT1 protein	29596660
D030421	Peroxynitrous Acid	Peroxynitrous Acid results in decreased activity of NAT1 protein	14672957; 15644493;
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 NAT1 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of NAT1 mRNA	26272509
D011084	Polycyclic Aromatic Hydrocarbons	NAT1 protein results in increased acetylation of Polycyclic Aromatic Hydrocarbons	15122594
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of NAT1 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of NAT1 mRNA	22079256
D011342	Procainamide	NAT1 protein results in increased acetylation of Procainamide	16003948
D011374	Progesterone	[Estradiol co-treated with Progesterone] results in increased expression of NAT1 mRNA	20660070
D011763	Pyrrolizidine Alkaloids	Pyrrolizidine Alkaloids results in decreased expression of NAT1 mRNA	26100227
D000077185	Resveratrol	Resveratrol results in increased expression of NAT1 mRNA	19228061
C017947	sodium arsenite	sodium arsenite results in increased expression of NAT1 mRNA	12016162
C017947	sodium arsenite	sodium arsenite results in increased methylation of NAT1 gene	25199682
D012999	Soman	Soman results in increased expression of NAT1 mRNA	19281266
D013418	Sulfamethazine	NAT1 protein results in increased metabolism of Sulfamethazine	30358977
D013418	Sulfamethazine	NAT1 protein results in increased acetylation of Sulfamethazine	16482518
D013467	Sulindac	Sulindac results in decreased expression of NAT1 mRNA	11828994
D000077210	Sunitinib	Sunitinib results in decreased expression of NAT1 mRNA	31533062
D013629	Tamoxifen	NAT1 protein results in decreased susceptibility to Tamoxifen	20628863
D013739	Testosterone	[Testosterone co-treated with Calcitriol] results in increased expression of NAT1 mRNA	21592394
D013739	Testosterone	Testosterone results in increased expression of NAT1 mRNA	21592394
D013749	Tetrachlorodibenzodioxin	[Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of NAT1 mRNA	19619570
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of NAT1 mRNA	19619570; 21632981;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of NAT1 mRNA	28213091
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of NAT1 mRNA	25613284
C009495	titanium dioxide	titanium dioxide results in increased expression of NAT1 mRNA	23409001
D014028	Tobacco Smoke Pollution	NAT1 gene polymorphism affects the reaction [Tobacco Smoke Pollution results in increased abundance of Cotinine]	25156213
D014028	Tobacco Smoke Pollution	NAT1 gene polymorphism affects the susceptibility to Tobacco Smoke Pollution	25156213
D014028	Tobacco Smoke Pollution	NAT1 protein affects the susceptibility to Tobacco Smoke Pollution	18499698
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of NAT1 mRNA	29505817
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of NAT1 mRNA	29501877
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of NAT1 mRNA	30610935
D014051	Toluene 2,4-Diisocyanate	NAT1 gene polymorphism affects the susceptibility to Toluene 2,4-Diisocyanate	18447907
D014051	Toluene 2,4-Diisocyanate	NAT1 protein polymorphism results in increased susceptibility to Toluene 2,4-Diisocyanate	11927838
D014241	Trichloroethylene	NAT1 gene polymorphism results in increased susceptibility to Trichloroethylene	19834256
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of NAT1 mRNA	26179874
D014520	Urethane	Urethane results in increased expression of NAT1 mRNA	28818685
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 NAT1 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of NAT1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased methylation of NAT1 gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of NAT1 mRNA	19101580; 23179753; 24935251; 26272509; 27188386;
C085514	wogonin	wogonin results in decreased expression of NAT1 mRNA	15816529
C085514	wogonin	wogonin results in decreased expression of NAT1 protein	15816529
C016837	zinc chloride	zinc chloride results in increased expression of NAT1 mRNA	16973896

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0007	Acetylation
KW-0012	Acyltransferase
KW-0963	Cytoplasm
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0808	Transferase

Interpro

InterPro ID	InterPro Term
IPR001447	Arylamine_N-AcTrfase
IPR038765	Papain-like_cys_pep_sf

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF00797	Acetyltransf_2

Gene: NAT1

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

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

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