CleftGeneDB-Search

Gene: MNT

Basic information

Tag	Content
Uniprot ID	Q99583; A8K6D1; D3DTI7; Q1ED38;
Entrez ID	4335
Genbank protein ID	EAW90542.1; CAA73851.1; EAW90541.1; AAI17564.1; CAA65265.1; BAF84285.1;
Genbank nucleotide ID	NM_020310.2
Ensembl protein ID	ENSP00000174618
Ensembl nucleotide ID	ENSG00000070444
Gene name	Max-binding protein MNT
Gene symbol	MNT
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Binds DNA as a heterodimer with MAX and represses transcription. Binds to the canonical E box sequence 5'-CACGTG-3' and, with higher affinity, to 5'-CACGCG-3'.
Sequence	MSIETLLEAA RFLEWQAQQQ QRAREEQERL RLEQEREQEQ KKANSLARLA HTLPVEEPRM 60 EAPPLPLSPP APPPAPPPPL ATPAPLTVIP IPVVTNSPQP LPPPPPLPAA AQPLPLAPRQ 120 PALVGAPGLS IKEPAPLPSR PQVPTPAPLL PDSKATIPPN GSPKPLQPLP TPVLTIAPHP 180 GVQPQLAPQQ PPPPTLGTLK LAPAEEVKSS EQKKRPGGIG TREVHNKLEK NRRAHLKECF 240 ETLKRNIPNV DDKKTSNLSV LRTALRYIQS LKRKEKEYEH EMERLAREKI ATQQRLAELK 300 HELSQWMDVL EIDRVLRQTG QPEDDQASTS TASEGEDNID EDMEEDRAGL GPPKLSHRPQ 360 PELLKSTLPP PSTTPAPLPP HPHPHPHSVA LPPAHLPVQQ QQPQQKTPLP APPPPPAAPA 420 QTLVPAPAHL VATAGGGSTV IAHTATTHAS VIQTVNHVLQ GPGGKHIAHI APSAPSPAVQ 480 LAPATPPIGH ITVHPATLNH VAHLGSQLPL YPQPVAVSHI AHTLSHQQVN GTAGLGPPAT 540 VMAKPAVGAQ VVHHPQLVGQ TVLNPVTMVT MPSFPVSTLK LA 582

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

Protein disorder visualization from D2P2 is currently unavailable.

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	MNT	618576	E1BCU5		Bos taurus	Prediction	More>>
1:1 ortholog	MNT		E2QY39		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	MNT		A0A452FE74		Capra hircus	Prediction	More>>
1:1 ortholog	MNT	4335	Q99583		Homo sapiens	Prediction	More>>
1:1 ortholog	Mnt	17428	O08789	CPO	Mus musculus	Publication	More>>
1:1 ortholog	MNT		A0A2I3RB25		Pan troglodytes	Prediction	More>>
1:1 ortholog	MNT		A0A287AGL3		Sus scrofa	Prediction	More>>
1:1 ortholog	MNT	100354631	G1TAW6		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Mnt	287521	A0A0U1RRY7		Rattus norvegicus	Prediction	More>>
1:1 ortholog	mntb		F1QBK5		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1388069922	p.Ser2Gly	missense variant	-	NC_000017.11:g.2400709T>C	gnomAD
NCI-TCGA novel	p.Thr5SerPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.2400699G>-	NCI-TCGA
rs945520116	p.Leu7Pro	missense variant	-	NC_000017.11:g.2400693A>G	TOPMed
rs1475971340	p.Arg11Gly	missense variant	-	NC_000017.11:g.2400682G>C	gnomAD
rs1475971340	p.Arg11Cys	missense variant	-	NC_000017.11:g.2400682G>A	gnomAD
rs1358054071	p.Phe12Tyr	missense variant	-	NC_000017.11:g.2400678A>T	TOPMed,gnomAD
rs1206501497	p.Trp15Arg	missense variant	-	NC_000017.11:g.2400670A>G	gnomAD
rs775982703	p.Ala17Glu	missense variant	-	NC_000017.11:g.2400663G>T	ExAC,gnomAD
rs772080642	p.Gln18Glu	missense variant	-	NC_000017.11:g.2400661G>C	ExAC,gnomAD
rs745968423	p.Gln19Glu	missense variant	-	NC_000017.11:g.2400658G>C	ExAC,gnomAD
rs774592765	p.Gln20Glu	missense variant	-	NC_000017.11:g.2400655G>C	ExAC,TOPMed,gnomAD
rs771026679	p.Gln20Arg	missense variant	-	NC_000017.11:g.2400654T>C	ExAC,TOPMed,gnomAD
rs1363870932	p.Ala23Thr	missense variant	-	NC_000017.11:g.2400646C>T	gnomAD
rs777414527	p.Arg24Cys	missense variant	-	NC_000017.11:g.2400643G>A	ExAC,gnomAD
rs1435694673	p.Glu26Gln	missense variant	-	NC_000017.11:g.2395452C>G	TOPMed
rs1435694673	p.Glu26Lys	missense variant	-	NC_000017.11:g.2395452C>T	TOPMed
rs201034336	p.Glu28Lys	missense variant	-	NC_000017.11:g.2395446C>T	1000Genomes,ExAC,gnomAD
rs1256799325	p.Arg29Trp	missense variant	-	NC_000017.11:g.2395443G>A	TOPMed,gnomAD
rs368005816	p.Arg29Gln	missense variant	-	NC_000017.11:g.2395442C>T	ESP,ExAC,gnomAD
rs752173068	p.Arg31His	missense variant	-	NC_000017.11:g.2395436C>T	ExAC,TOPMed,gnomAD
rs767918041	p.Arg31Cys	missense variant	-	NC_000017.11:g.2395437G>A	ExAC,gnomAD
rs752173068	p.Arg31Pro	missense variant	-	NC_000017.11:g.2395436C>G	ExAC,TOPMed,gnomAD
rs1162192118	p.Leu32Val	missense variant	-	NC_000017.11:g.2395434A>C	TOPMed
COSM976682	p.Glu33Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.2395429C>A	NCI-TCGA Cosmic
rs556568463	p.Gln34Glu	missense variant	-	NC_000017.11:g.2395428G>C	1000Genomes,ExAC,gnomAD
rs763118760	p.Glu35Lys	missense variant	-	NC_000017.11:g.2395425C>T	ExAC,gnomAD
rs201879561	p.Arg36Pro	missense variant	-	NC_000017.11:g.2395421C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs201879561	p.Arg36Gln	missense variant	-	NC_000017.11:g.2395421C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1464234251	p.Glu37Lys	missense variant	-	NC_000017.11:g.2395419C>T	gnomAD
rs984362026	p.Lys41Arg	missense variant	-	NC_000017.11:g.2395406T>C	TOPMed
rs918799333	p.Lys42Glu	missense variant	-	NC_000017.11:g.2395404T>C	TOPMed,gnomAD
rs776554134	p.Lys42Asn	missense variant	-	NC_000017.11:g.2395402C>G	ExAC,gnomAD
rs992509325	p.Lys42Thr	missense variant	-	NC_000017.11:g.2395403T>G	TOPMed
rs768563139	p.Ala43Asp	missense variant	-	NC_000017.11:g.2395400G>T	ExAC,TOPMed,gnomAD
rs768563139	p.Ala43Val	missense variant	-	NC_000017.11:g.2395400G>A	ExAC,TOPMed,gnomAD
rs994374103	p.Ala43Thr	missense variant	-	NC_000017.11:g.2395401C>T	TOPMed
rs1482409860	p.Asn44His	missense variant	-	NC_000017.11:g.2395398T>G	gnomAD
rs780056367	p.Ala47Val	missense variant	-	NC_000017.11:g.2395388G>A	ExAC,gnomAD
rs570934050	p.Ala47Thr	missense variant	-	NC_000017.11:g.2395389C>T	1000Genomes,TOPMed
rs771433131	p.Arg48Ser	missense variant	-	NC_000017.11:g.2395384C>A	ExAC,gnomAD
rs1229047249	p.Arg48Thr	missense variant	-	NC_000017.11:g.2395385C>G	gnomAD
rs745412288	p.Ala50Ser	missense variant	-	NC_000017.11:g.2395380C>A	ExAC,gnomAD
rs778433990	p.His51Tyr	missense variant	-	NC_000017.11:g.2395377G>A	ExAC,gnomAD
rs756880991	p.Thr52Asn	missense variant	-	NC_000017.11:g.2395373G>T	ExAC,gnomAD
rs1393890248	p.Glu56Lys	missense variant	-	NC_000017.11:g.2395362C>T	gnomAD
rs755372271	p.Glu56Val	missense variant	-	NC_000017.11:g.2395361T>A	ExAC,gnomAD
rs755372271	p.Glu56Ala	missense variant	-	NC_000017.11:g.2395361T>G	ExAC,gnomAD
rs1259719316	p.Glu57Lys	missense variant	-	NC_000017.11:g.2395359C>T	TOPMed
rs766943479	p.Pro58Ser	missense variant	-	NC_000017.11:g.2395356G>A	ExAC,TOPMed,gnomAD
rs766943479	p.Pro58Thr	missense variant	-	NC_000017.11:g.2395356G>T	ExAC,TOPMed,gnomAD
rs141569229	p.Arg59Gly	missense variant	-	NC_000017.11:g.2395353G>C	ESP,ExAC,TOPMed,gnomAD
rs370273802	p.Arg59His	missense variant	-	NC_000017.11:g.2395352C>T	ESP,ExAC,TOPMed,gnomAD
rs141569229	p.Arg59Cys	missense variant	-	NC_000017.11:g.2395353G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg59Pro	missense variant	-	NC_000017.11:g.2395352C>G	NCI-TCGA
rs1475504534	p.Met60Ile	missense variant	-	NC_000017.11:g.2395348C>T	gnomAD
rs367751791	p.Ala62Gly	missense variant	-	NC_000017.11:g.2395343G>C	ESP,ExAC,TOPMed,gnomAD
rs138518103	p.Pro64Leu	missense variant	-	NC_000017.11:g.2395337G>A	ESP
rs745854896	p.Pro64Ser	missense variant	-	NC_000017.11:g.2395338G>A	ExAC,TOPMed,gnomAD
rs1466304444	p.Ser68Pro	missense variant	-	NC_000017.11:g.2395326A>G	gnomAD
rs748869504	p.Pro70Leu	missense variant	-	NC_000017.11:g.2395319G>A	ExAC,gnomAD
rs770490564	p.Pro70Ser	missense variant	-	NC_000017.11:g.2395320G>A	ExAC,TOPMed,gnomAD
rs1357712775	p.Ala71Thr	missense variant	-	NC_000017.11:g.2395317C>T	gnomAD
rs1267797985	p.Ala71Val	missense variant	-	NC_000017.11:g.2395316G>A	gnomAD
rs777491906	p.Pro73Leu	missense variant	-	NC_000017.11:g.2395310G>A	ExAC,TOPMed,gnomAD
rs755261009	p.Pro74Arg	missense variant	-	NC_000017.11:g.2395307G>C	ExAC,TOPMed,gnomAD
rs755261009	p.Pro74Gln	missense variant	-	NC_000017.11:g.2395307G>T	ExAC,TOPMed,gnomAD
rs755261009	p.Pro74Leu	missense variant	-	NC_000017.11:g.2395307G>A	ExAC,TOPMed,gnomAD
rs1226337693	p.Ala75Val	missense variant	-	NC_000017.11:g.2395304G>A	TOPMed
rs1226337693	p.Ala75Glu	missense variant	-	NC_000017.11:g.2395304G>T	TOPMed
rs1319326582	p.Pro76Leu	missense variant	-	NC_000017.11:g.2395301G>A	gnomAD
rs780335013	p.Pro77Leu	missense variant	-	NC_000017.11:g.2395298G>A	ExAC,gnomAD
rs758935100	p.Pro78Thr	missense variant	-	NC_000017.11:g.2395296G>T	ExAC,TOPMed,gnomAD
rs751037795	p.Pro79Ser	missense variant	-	NC_000017.11:g.2395293G>A	ExAC,gnomAD
rs765341764	p.Pro79Leu	missense variant	-	NC_000017.11:g.2395292G>A	ExAC,gnomAD
rs751037795	p.Pro79Ala	missense variant	-	NC_000017.11:g.2395293G>C	ExAC,gnomAD
rs1451573352	p.Leu80Pro	missense variant	-	NC_000017.11:g.2395289A>G	gnomAD
rs1278982138	p.Thr82Ser	missense variant	-	NC_000017.11:g.2395284T>A	TOPMed
rs1278982138	p.Thr82Pro	missense variant	-	NC_000017.11:g.2395284T>G	TOPMed
rs1187969737	p.Pro83Ser	missense variant	-	NC_000017.11:g.2395281G>A	gnomAD
rs754066762	p.Ala84Thr	missense variant	-	NC_000017.11:g.2395278C>T	ExAC,gnomAD
rs371205383	p.Pro85Ser	missense variant	-	NC_000017.11:g.2395275G>A	ESP,ExAC,TOPMed,gnomAD
rs1356011841	p.Pro85Leu	missense variant	-	NC_000017.11:g.2395274G>A	gnomAD
rs1339669974	p.Val88Ile	missense variant	-	NC_000017.11:g.2395266C>T	gnomAD
rs1339669974	p.Val88Leu	missense variant	-	NC_000017.11:g.2395266C>G	gnomAD
NCI-TCGA novel	p.Ile89Thr	missense variant	-	NC_000017.11:g.2395262A>G	NCI-TCGA
rs1386143945	p.Val94Met	missense variant	-	NC_000017.11:g.2395248C>T	gnomAD
rs774272070	p.Val94Ala	missense variant	-	NC_000017.11:g.2395247A>G	ExAC
rs1370876590	p.Asn96Ser	missense variant	-	NC_000017.11:g.2395241T>C	TOPMed,gnomAD
rs1170276644	p.Ser97Tyr	missense variant	-	NC_000017.11:g.2395238G>T	gnomAD
rs1427624793	p.Pro98Leu	missense variant	-	NC_000017.11:g.2395235G>A	gnomAD
rs1030626132	p.Pro100Ser	missense variant	-	NC_000017.11:g.2395230G>A	TOPMed,gnomAD
rs1030626132	p.Pro100Thr	missense variant	-	NC_000017.11:g.2395230G>T	TOPMed,gnomAD
rs568230751	p.Leu101Val	missense variant	-	NC_000017.11:g.2395227G>C	1000Genomes,ExAC,gnomAD
rs915438993	p.Pro102Ser	missense variant	-	NC_000017.11:g.2395224G>A	TOPMed
rs1197307127	p.Pro104Leu	missense variant	-	NC_000017.11:g.2395217G>A	gnomAD
rs772640307	p.Pro104Ala	missense variant	-	NC_000017.11:g.2395218G>C	ExAC,gnomAD
rs1287198992	p.Pro105Thr	missense variant	-	NC_000017.11:g.2395215G>T	TOPMed
rs769468563	p.Pro108Leu	missense variant	-	NC_000017.11:g.2395205G>A	ExAC,TOPMed,gnomAD
rs7207965	p.Ala109Ser	missense variant	-	NC_000017.11:g.2395203C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746319729	p.Ala109Val	missense variant	-	NC_000017.11:g.2395202G>A	ExAC,gnomAD
rs7207965	p.Ala109Thr	missense variant	-	NC_000017.11:g.2395203C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs7207965	p.Ala109Pro	missense variant	-	NC_000017.11:g.2395203C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1485814331	p.Gln112His	missense variant	-	NC_000017.11:g.2395192C>G	TOPMed
rs757373794	p.Leu114Met	missense variant	-	NC_000017.11:g.2395188G>T	ExAC
rs1232379777	p.Pro115Ser	missense variant	-	NC_000017.11:g.2395185G>A	gnomAD
rs1211001994	p.Pro115Leu	missense variant	-	NC_000017.11:g.2395184G>A	TOPMed
rs753921763	p.Ala117Val	missense variant	-	NC_000017.11:g.2395178G>A	ExAC,gnomAD
rs1407753978	p.Pro118Ser	missense variant	-	NC_000017.11:g.2395176G>A	gnomAD
rs1369795146	p.Pro118Leu	missense variant	-	NC_000017.11:g.2395175G>A	TOPMed,gnomAD
rs756345161	p.Arg119His	missense variant	-	NC_000017.11:g.2395172C>T	ExAC,gnomAD
rs901141087	p.Arg119Cys	missense variant	-	NC_000017.11:g.2395173G>A	gnomAD
rs752928972	p.Gln120Arg	missense variant	-	NC_000017.11:g.2395169T>C	ExAC,gnomAD
rs767272538	p.Pro121Leu	missense variant	-	NC_000017.11:g.2395166G>A	ExAC,gnomAD
rs1413312272	p.Ala122Val	missense variant	-	NC_000017.11:g.2395163G>A	gnomAD
rs1452955758	p.Val124Gly	missense variant	-	NC_000017.11:g.2395157A>C	TOPMed
rs1294099040	p.Gly125Ser	missense variant	-	NC_000017.11:g.2395155C>T	TOPMed
rs1482274574	p.Ala126Thr	missense variant	-	NC_000017.11:g.2395152C>T	gnomAD
rs1276392268	p.Ala126Val	missense variant	-	NC_000017.11:g.2395151G>A	TOPMed,gnomAD
rs1232666462	p.Pro127Thr	missense variant	-	NC_000017.11:g.2395149G>T	TOPMed,gnomAD
rs766275601	p.Pro127Leu	missense variant	-	NC_000017.11:g.2395148G>A	ExAC,gnomAD
rs772769767	p.Gly128Arg	missense variant	-	NC_000017.11:g.2395146C>T	ExAC,TOPMed
rs1275845249	p.Ser130Arg	missense variant	-	NC_000017.11:g.2395138G>T	gnomAD
rs1304193088	p.Glu133Lys	missense variant	-	NC_000017.11:g.2395131C>T	TOPMed
rs1329315568	p.Pro134Leu	missense variant	-	NC_000017.11:g.2395127G>A	gnomAD
rs867302467	p.Ala135Val	missense variant	-	NC_000017.11:g.2395124G>A	TOPMed
rs769258532	p.Pro136Ala	missense variant	-	NC_000017.11:g.2395122G>C	ExAC,TOPMed,gnomAD
COSM4430419	p.Leu137CysPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.2395119G>-	NCI-TCGA Cosmic
rs1284593021	p.Pro138Arg	missense variant	-	NC_000017.11:g.2395115G>C	TOPMed,gnomAD
rs1349590761	p.Pro138Thr	missense variant	-	NC_000017.11:g.2395116G>T	gnomAD
rs1284593021	p.Pro138His	missense variant	-	NC_000017.11:g.2395115G>T	TOPMed,gnomAD
rs776161708	p.Pro141Leu	missense variant	-	NC_000017.11:g.2395106G>A	ExAC,TOPMed,gnomAD
rs776161708	p.Pro141Arg	missense variant	-	NC_000017.11:g.2395106G>C	ExAC,TOPMed,gnomAD
rs776161708	p.Pro141Gln	missense variant	-	NC_000017.11:g.2395106G>T	ExAC,TOPMed,gnomAD
rs772517951	p.Val143Leu	missense variant	-	NC_000017.11:g.2395101C>A	ExAC,TOPMed,gnomAD
rs1005928970	p.Thr145Asn	missense variant	-	NC_000017.11:g.2395094G>T	TOPMed,gnomAD
rs1005928970	p.Thr145Ser	missense variant	-	NC_000017.11:g.2395094G>C	TOPMed,gnomAD
rs1161916398	p.Pro146Leu	missense variant	-	NC_000017.11:g.2395091G>A	gnomAD
rs1407652882	p.Ala147Thr	missense variant	-	NC_000017.11:g.2395089C>T	TOPMed,gnomAD
rs1182835833	p.Ala147Asp	missense variant	-	NC_000017.11:g.2395088G>T	gnomAD
rs1235371471	p.Pro148Ser	missense variant	-	NC_000017.11:g.2395086G>A	TOPMed,gnomAD
rs531969658	p.Pro148Arg	missense variant	-	NC_000017.11:g.2395085G>C	1000Genomes,ExAC,gnomAD
rs531969658	p.Pro148Leu	missense variant	-	NC_000017.11:g.2395085G>A	1000Genomes,ExAC,gnomAD
rs777899689	p.Leu150Val	missense variant	-	NC_000017.11:g.2395080G>C	ExAC,gnomAD
rs756153114	p.Pro151Leu	missense variant	-	NC_000017.11:g.2395076G>A	ExAC,TOPMed,gnomAD
rs1316305217	p.Asp152Asn	missense variant	-	NC_000017.11:g.2395074C>T	gnomAD
rs1026017229	p.Ser153Leu	missense variant	-	NC_000017.11:g.2395070G>A	TOPMed
rs1229793591	p.Ala155Thr	missense variant	-	NC_000017.11:g.2395065C>T	gnomAD
NCI-TCGA novel	p.Ile157Thr	missense variant	-	NC_000017.11:g.2395058A>G	NCI-TCGA
rs751334803	p.Pro159Leu	missense variant	-	NC_000017.11:g.2395052G>A	ExAC,TOPMed,gnomAD
rs751334803	p.Pro159His	missense variant	-	NC_000017.11:g.2395052G>T	ExAC,TOPMed,gnomAD
rs539911054	p.Asn160Ile	missense variant	-	NC_000017.11:g.2395049T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs539911054	p.Asn160Ser	missense variant	-	NC_000017.11:g.2395049T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs764750453	p.Gly161Ser	missense variant	-	NC_000017.11:g.2395047C>T	ExAC,gnomAD
rs761255582	p.Ser162Cys	missense variant	-	NC_000017.11:g.2395044T>A	ExAC,gnomAD
rs768394804	p.Ser162Arg	missense variant	-	NC_000017.11:g.2395042G>T	ExAC,gnomAD
rs776310192	p.Ser162Asn	missense variant	-	NC_000017.11:g.2395043C>T	ExAC,gnomAD
rs760450312	p.Pro163His	missense variant	-	NC_000017.11:g.2395040G>T	ExAC
rs774839279	p.Lys164Arg	missense variant	-	NC_000017.11:g.2395037T>C	ExAC,TOPMed,gnomAD
rs1001250384	p.Lys164Asn	missense variant	-	NC_000017.11:g.2395036C>G	TOPMed,gnomAD
rs771485349	p.Pro165Ala	missense variant	-	NC_000017.11:g.2395035G>C	ExAC,gnomAD
rs749732213	p.Gln167Arg	missense variant	-	NC_000017.11:g.2395028T>C	ExAC,TOPMed,gnomAD
rs1186093037	p.Pro168Ala	missense variant	-	NC_000017.11:g.2395026G>C	gnomAD
rs778156303	p.Leu169Val	missense variant	-	NC_000017.11:g.2395023G>C	ExAC,TOPMed,gnomAD
rs778156303	p.Leu169Phe	missense variant	-	NC_000017.11:g.2395023G>A	ExAC,TOPMed,gnomAD
rs769861969	p.Pro170Ala	missense variant	-	NC_000017.11:g.2395020G>C	ExAC,TOPMed,gnomAD
rs748205933	p.Pro170His	missense variant	-	NC_000017.11:g.2395019G>T	ExAC,gnomAD
rs751847898	p.Thr171Met	missense variant	-	NC_000017.11:g.2395016G>A	ExAC,gnomAD
rs1300148510	p.Pro172Ser	missense variant	-	NC_000017.11:g.2395014G>A	gnomAD
rs758145290	p.Ile176Met	missense variant	-	NC_000017.11:g.2395000T>C	ExAC,TOPMed,gnomAD
rs1419949328	p.Ala177Val	missense variant	-	NC_000017.11:g.2394998G>A	TOPMed
rs750330304	p.Pro178Thr	missense variant	-	NC_000017.11:g.2394996G>T	ExAC,gnomAD
rs765121802	p.His179Tyr	missense variant	-	NC_000017.11:g.2394993G>A	ExAC,TOPMed,gnomAD
rs757262057	p.Pro180Ser	missense variant	-	NC_000017.11:g.2394990G>A	ExAC,gnomAD
rs1430848497	p.Pro180Arg	missense variant	-	NC_000017.11:g.2394989G>C	gnomAD
rs1427409354	p.Pro184Ser	missense variant	-	NC_000017.11:g.2394978G>A	gnomAD
rs1425269621	p.Leu186Gln	missense variant	-	NC_000017.11:g.2394971A>T	gnomAD
rs926932913	p.Ala187Asp	missense variant	-	NC_000017.11:g.2394968G>T	TOPMed,gnomAD
rs926932913	p.Ala187Val	missense variant	-	NC_000017.11:g.2394968G>A	TOPMed,gnomAD
rs763752700	p.Pro188Leu	missense variant	-	NC_000017.11:g.2394965G>A	ExAC,gnomAD
rs1267870423	p.Pro188Ser	missense variant	-	NC_000017.11:g.2394966G>A	TOPMed,gnomAD
COSM1381561	p.Gln189SerPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.2394963G>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln190His	missense variant	-	NC_000017.11:g.2394958C>A	NCI-TCGA
rs1225520687	p.Pro191Leu	missense variant	-	NC_000017.11:g.2394956G>A	TOPMed,gnomAD
rs775282908	p.Pro191Ala	missense variant	-	NC_000017.11:g.2394957G>C	ExAC,gnomAD
rs775282908	p.Pro191Ser	missense variant	-	NC_000017.11:g.2394957G>A	ExAC,gnomAD
rs773728070	p.Pro192Leu	missense variant	-	NC_000017.11:g.2394953G>A	ExAC,gnomAD
rs1302098325	p.Pro192Ser	missense variant	-	NC_000017.11:g.2394954G>A	TOPMed,gnomAD
rs914291494	p.Pro193Leu	missense variant	-	NC_000017.11:g.2394950G>A	TOPMed,gnomAD
rs1372870188	p.Pro194Ser	missense variant	-	NC_000017.11:g.2394948G>A	gnomAD
rs935556921	p.Thr195Met	missense variant	-	NC_000017.11:g.2394944G>A	TOPMed
rs747176593	p.Gly197Glu	missense variant	-	NC_000017.11:g.2394938C>T	ExAC,TOPMed,gnomAD
rs780280823	p.Thr198Ile	missense variant	-	NC_000017.11:g.2394935G>A	ExAC,gnomAD
rs780280823	p.Thr198Ser	missense variant	-	NC_000017.11:g.2394935G>C	ExAC,gnomAD
rs758176205	p.Leu199Val	missense variant	-	NC_000017.11:g.2394933G>C	ExAC,gnomAD
rs745622475	p.Lys200Arg	missense variant	-	NC_000017.11:g.2394929T>C	ExAC,TOPMed,gnomAD
rs561978070	p.Ala202Val	missense variant	-	NC_000017.11:g.2394923G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs757125925	p.Ala202Thr	missense variant	-	NC_000017.11:g.2394924C>T	ExAC,TOPMed,gnomAD
rs755694922	p.Pro203Arg	missense variant	-	NC_000017.11:g.2394920G>C	ExAC,gnomAD
rs763628010	p.Pro203Ser	missense variant	-	NC_000017.11:g.2394921G>A	ExAC,TOPMed,gnomAD
rs1212302959	p.Ala204Asp	missense variant	-	NC_000017.11:g.2394917G>T	gnomAD
rs868543089	p.Glu205Ter	stop gained	-	NC_000017.11:g.2394915C>A	gnomAD
rs868543089	p.Glu205Lys	missense variant	-	NC_000017.11:g.2394915C>T	gnomAD
COSM976676	p.Glu206Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.2394912C>A	NCI-TCGA Cosmic
rs752348085	p.Glu206Lys	missense variant	-	NC_000017.11:g.2394912C>T	ExAC,gnomAD
rs1229557362	p.Val207Ile	missense variant	-	NC_000017.11:g.2394909C>T	TOPMed,gnomAD
rs1418574367	p.Glu211Asp	missense variant	-	NC_000017.11:g.2394895T>G	TOPMed
rs1352657936	p.Gln212Glu	missense variant	-	NC_000017.11:g.2394894G>C	gnomAD
rs542016598	p.Gln212Arg	missense variant	-	NC_000017.11:g.2394893T>C	1000Genomes
rs1305342400	p.Lys213Arg	missense variant	-	NC_000017.11:g.2394890T>C	TOPMed,gnomAD
rs759271173	p.Lys214Arg	missense variant	-	NC_000017.11:g.2394887T>C	ExAC,TOPMed,gnomAD
rs997830320	p.Pro216Leu	missense variant	-	NC_000017.11:g.2394881G>A	TOPMed
rs765701515	p.Pro216Ser	missense variant	-	NC_000017.11:g.2394882G>A	ExAC,TOPMed,gnomAD
rs1159739127	p.Gly217Arg	missense variant	-	NC_000017.11:g.2394879C>T	gnomAD
rs1429292859	p.Gly217Ala	missense variant	-	NC_000017.11:g.2394878C>G	TOPMed
rs191591618	p.Gly218Arg	missense variant	-	NC_000017.11:g.2394876C>T	1000Genomes,ExAC,gnomAD
rs577570326	p.Gly220Ala	missense variant	-	NC_000017.11:g.2394341C>G	gnomAD
rs1324238124	p.Glu223Gln	missense variant	-	NC_000017.11:g.2394333C>G	gnomAD
rs772257735	p.Val224Ile	missense variant	-	NC_000017.11:g.2394330C>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys230Gln	missense variant	-	NC_000017.11:g.2394312T>G	NCI-TCGA
NCI-TCGA novel	p.Arg233Met	missense variant	-	NC_000017.11:g.2394152C>A	NCI-TCGA
rs1469763263	p.Ala234Thr	missense variant	-	NC_000017.11:g.2394150C>T	gnomAD
rs148036617	p.Glu238Gln	missense variant	-	NC_000017.11:g.2394138C>G	ESP
rs373133512	p.Glu238Asp	missense variant	-	NC_000017.11:g.2394136C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys239Tyr	missense variant	-	NC_000017.11:g.2394134C>T	NCI-TCGA
rs546230826	p.Glu241Ala	missense variant	-	NC_000017.11:g.2394128T>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Glu241Asp	missense variant	-	NC_000017.11:g.2394127C>A	NCI-TCGA
rs143526400	p.Thr242Ile	missense variant	-	NC_000017.11:g.2394125G>A	ESP,ExAC,gnomAD
rs1329740458	p.Arg245Gln	missense variant	-	NC_000017.11:g.2394116C>T	gnomAD
rs1202914577	p.Arg245Trp	missense variant	-	NC_000017.11:g.2394117G>A	gnomAD
rs774980466	p.Asn249Lys	missense variant	-	NC_000017.11:g.2394103G>C	ExAC,TOPMed,gnomAD
rs746979460	p.Asn249Ser	missense variant	-	NC_000017.11:g.2394104T>C	ExAC,gnomAD
rs1449043059	p.Asp251Asn	missense variant	-	NC_000017.11:g.2394099C>T	gnomAD
rs771571803	p.Asp252Glu	missense variant	-	NC_000017.11:g.2394094G>C	ExAC,TOPMed,gnomAD
rs745463558	p.Lys254Thr	missense variant	-	NC_000017.11:g.2394089T>G	ExAC,TOPMed,gnomAD
rs781458228	p.Leu258Met	missense variant	-	NC_000017.11:g.2394078G>T	ExAC,gnomAD
rs1163420172	p.Ser259Cys	missense variant	-	NC_000017.11:g.2394075T>A	gnomAD
NCI-TCGA novel	p.Ser259Arg	missense variant	-	NC_000017.11:g.2394075T>G	NCI-TCGA
rs752072267	p.Val260Met	missense variant	-	NC_000017.11:g.2394072C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg262Leu	missense variant	-	NC_000017.11:g.2394065C>A	NCI-TCGA
rs1316052487	p.Ala264Thr	missense variant	-	NC_000017.11:g.2394060C>T	gnomAD
rs750634463	p.Leu265Arg	missense variant	-	NC_000017.11:g.2394056A>C	ExAC,gnomAD
rs1361825903	p.Arg266Leu	missense variant	-	NC_000017.11:g.2394053C>A	gnomAD
rs779195971	p.Ser270Phe	missense variant	-	NC_000017.11:g.2388048G>A	ExAC,gnomAD
rs1253350413	p.Arg273Lys	missense variant	-	NC_000017.11:g.2388039C>T	gnomAD
rs185455119	p.Lys276Asn	missense variant	-	NC_000017.11:g.2388029C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1264226196	p.Tyr278Cys	missense variant	-	NC_000017.11:g.2388024T>C	gnomAD
rs1343968250	p.Glu281Lys	missense variant	-	NC_000017.11:g.2388016C>T	gnomAD
COSM1479339	p.Glu283Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.2388010C>G	NCI-TCGA Cosmic
rs376612601	p.Arg284Leu	missense variant	-	NC_000017.11:g.2388006C>A	ESP,ExAC,TOPMed,gnomAD
rs376612601	p.Arg284Gln	missense variant	-	NC_000017.11:g.2388006C>T	ESP,ExAC,TOPMed,gnomAD
rs866017809	p.Arg284Trp	missense variant	-	NC_000017.11:g.2388007G>A	TOPMed,gnomAD
rs1178431011	p.Arg287His	missense variant	-	NC_000017.11:g.2387997C>T	gnomAD
rs149297090	p.Arg287Cys	missense variant	-	NC_000017.11:g.2387998G>A	ESP,ExAC,TOPMed,gnomAD
rs1355006774	p.Glu288Asp	missense variant	-	NC_000017.11:g.2387993C>G	TOPMed,gnomAD
rs759517457	p.Ile290Thr	missense variant	-	NC_000017.11:g.2387988A>G	ExAC,gnomAD
rs1428293775	p.Ile290Met	missense variant	-	NC_000017.11:g.2387987A>C	TOPMed,gnomAD
rs373443692	p.Thr292Met	missense variant	-	NC_000017.11:g.2387982G>A	ESP,ExAC,TOPMed,gnomAD
rs1252922755	p.Gln294Leu	missense variant	-	NC_000017.11:g.2387976T>A	gnomAD
rs1175704026	p.Ala297Val	missense variant	-	NC_000017.11:g.2387967G>A	gnomAD
rs1206075526	p.Ala297Thr	missense variant	-	NC_000017.11:g.2387968C>T	TOPMed
rs1261681971	p.Glu298Lys	missense variant	-	NC_000017.11:g.2387965C>T	TOPMed
rs556665422	p.Glu302Lys	missense variant	-	NC_000017.11:g.2387953C>T	1000Genomes,ExAC,gnomAD
rs537174910	p.Met307Leu	missense variant	-	NC_000017.11:g.2387938T>G	1000Genomes,ExAC,gnomAD
rs138666309	p.Val309Ile	missense variant	-	NC_000017.11:g.2387932C>T	ESP,ExAC,TOPMed,gnomAD
rs1480736235	p.Leu310Pro	missense variant	-	NC_000017.11:g.2387928A>G	TOPMed
rs868844457	p.Glu311Asp	missense variant	-	NC_000017.11:g.2387924C>A	TOPMed
rs1382824678	p.Asp313Gly	missense variant	-	NC_000017.11:g.2387919T>C	gnomAD
rs369150700	p.Arg314His	missense variant	-	NC_000017.11:g.2387916C>T	ESP,ExAC,TOPMed,gnomAD
rs1449886421	p.Arg314Cys	missense variant	-	NC_000017.11:g.2387917G>A	gnomAD
rs369150700	p.Arg314Leu	missense variant	-	NC_000017.11:g.2387916C>A	ESP,ExAC,TOPMed,gnomAD
rs757301365	p.Val315Met	missense variant	-	NC_000017.11:g.2387914C>T	ExAC,TOPMed,gnomAD
rs756364459	p.Arg317Gln	missense variant	-	NC_000017.11:g.2387907C>T	ExAC,gnomAD
rs201504054	p.Arg317Trp	missense variant	-	NC_000017.11:g.2387908G>A	1000Genomes,ExAC,gnomAD
rs752463787	p.Gln318Glu	missense variant	-	NC_000017.11:g.2387905G>C	ExAC,gnomAD
rs202042731	p.Thr319Met	missense variant	-	NC_000017.11:g.2387901G>A	ESP,ExAC,TOPMed,gnomAD
rs202042731	p.Thr319Arg	missense variant	-	NC_000017.11:g.2387901G>C	ESP,ExAC,TOPMed,gnomAD
rs1206249316	p.Gln321His	missense variant	-	NC_000017.11:g.2387894C>G	gnomAD
rs751500365	p.Gln321Lys	missense variant	-	NC_000017.11:g.2387896G>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro322Leu	missense variant	-	NC_000017.11:g.2387892G>A	NCI-TCGA
rs1259360308	p.Glu323Val	missense variant	-	NC_000017.11:g.2387889T>A	gnomAD
rs1237831156	p.Ala327Val	missense variant	-	NC_000017.11:g.2387877G>A	gnomAD
rs772821045	p.Thr329Pro	missense variant	-	NC_000017.11:g.2387872T>G	ExAC,gnomAD
rs199800035	p.Ser330Pro	missense variant	-	NC_000017.11:g.2387869A>G	gnomAD
NCI-TCGA novel	p.Ser330Cys	missense variant	-	NC_000017.11:g.2387868G>C	NCI-TCGA
rs1318819755	p.Thr331Pro	missense variant	-	NC_000017.11:g.2387866T>G	gnomAD
rs1382456632	p.Ala332Thr	missense variant	-	NC_000017.11:g.2387863C>T	gnomAD
rs767947393	p.Glu336Ala	missense variant	-	NC_000017.11:g.2387643T>G	ExAC,gnomAD
rs760006772	p.Asp337Glu	missense variant	-	NC_000017.11:g.2387639G>T	ExAC,TOPMed,gnomAD
rs559402666	p.Asn338Ser	missense variant	-	NC_000017.11:g.2387637T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs771316978	p.Ile339Met	missense variant	-	NC_000017.11:g.2387633T>C	ExAC,TOPMed,gnomAD
rs749860604	p.Asp340Asn	missense variant	-	NC_000017.11:g.2387632C>T	ExAC,gnomAD
rs769865972	p.Glu341Lys	missense variant	-	NC_000017.11:g.2387629C>T	ExAC,TOPMed,gnomAD
rs748311503	p.Asp342Tyr	missense variant	-	NC_000017.11:g.2387626C>A	ExAC,gnomAD
rs1020635128	p.Asp342Glu	missense variant	-	NC_000017.11:g.2387624A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Glu344Lys	missense variant	-	NC_000017.11:g.2387620C>T	NCI-TCGA
rs1404152617	p.Glu345Lys	missense variant	-	NC_000017.11:g.2387617C>T	gnomAD
rs781414527	p.Asp346Asn	missense variant	-	NC_000017.11:g.2387614C>T	ExAC,gnomAD
rs755234076	p.Arg347Gln	missense variant	-	NC_000017.11:g.2387610C>T	ExAC,TOPMed,gnomAD
rs1050800917	p.Arg347Trp	missense variant	-	NC_000017.11:g.2387611G>A	TOPMed,gnomAD
rs1050800917	p.Arg347Gly	missense variant	-	NC_000017.11:g.2387611G>C	TOPMed,gnomAD
rs146563186	p.Ala348Val	missense variant	-	NC_000017.11:g.2387607G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala348Thr	missense variant	-	NC_000017.11:g.2387608C>T	NCI-TCGA
rs1470606946	p.Gly349Asp	missense variant	-	NC_000017.11:g.2387604C>T	gnomAD
rs1470606946	p.Gly349Val	missense variant	-	NC_000017.11:g.2387604C>A	gnomAD
rs368541557	p.Gly351Ser	missense variant	-	NC_000017.11:g.2387599C>T	ESP,ExAC,gnomAD
rs1233092006	p.Pro352Ala	missense variant	-	NC_000017.11:g.2387596G>C	gnomAD
rs756853458	p.Pro353Ser	missense variant	-	NC_000017.11:g.2387593G>A	ExAC,TOPMed,gnomAD
rs563339380	p.Arg358Pro	missense variant	-	NC_000017.11:g.2387577C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs563339380	p.Arg358His	missense variant	-	NC_000017.11:g.2387577C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs763804209	p.Arg358Gly	missense variant	-	NC_000017.11:g.2387578G>C	ExAC,TOPMed,gnomAD
rs763804209	p.Arg358Cys	missense variant	-	NC_000017.11:g.2387578G>A	ExAC,TOPMed,gnomAD
rs201792632	p.Pro359Leu	missense variant	-	NC_000017.11:g.2387574G>A	1000Genomes,ExAC,gnomAD
rs763301066	p.Gln360His	missense variant	-	NC_000017.11:g.2387570C>G	ExAC,gnomAD
rs773783155	p.Pro361Leu	missense variant	-	NC_000017.11:g.2387568G>A	ExAC,TOPMed,gnomAD
COSM3515205	p.Pro361Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.2387569G>A	NCI-TCGA Cosmic
rs1334015395	p.Leu363Pro	missense variant	-	NC_000017.11:g.2387562A>G	gnomAD
rs769815832	p.Leu364Pro	missense variant	-	NC_000017.11:g.2387559A>G	ExAC,gnomAD
rs140963967	p.Lys365Thr	missense variant	-	NC_000017.11:g.2387556T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs776740717	p.Thr367Ile	missense variant	-	NC_000017.11:g.2387550G>A	ExAC,gnomAD
rs771916294	p.Pro370Leu	missense variant	-	NC_000017.11:g.2387541G>A	ExAC,TOPMed,gnomAD
rs779650100	p.Pro370Ala	missense variant	-	NC_000017.11:g.2387542G>C	ExAC,gnomAD
rs771916294	p.Pro370Arg	missense variant	-	NC_000017.11:g.2387541G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro370His	missense variant	-	NC_000017.11:g.2387541G>T	NCI-TCGA
rs779028423	p.Pro371His	missense variant	-	NC_000017.11:g.2387538G>T	ExAC,gnomAD
rs1379344508	p.Pro371Ser	missense variant	-	NC_000017.11:g.2387539G>A	TOPMed,gnomAD
rs779028423	p.Pro371Arg	missense variant	-	NC_000017.11:g.2387538G>C	ExAC,gnomAD
COSM2799271	p.Ser372AlaPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.2387537G>-	NCI-TCGA Cosmic
rs1241195899	p.Ser372Gly	missense variant	-	NC_000017.11:g.2387536T>C	gnomAD
rs1209349964	p.Ser372Thr	missense variant	-	NC_000017.11:g.2387535C>G	gnomAD
rs777481784	p.Thr374Ile	missense variant	-	NC_000017.11:g.2387529G>A	ExAC,TOPMed,gnomAD
rs753373231	p.Thr374Pro	missense variant	-	NC_000017.11:g.2387530T>G	ExAC,gnomAD
rs755714825	p.Pro375Ser	missense variant	-	NC_000017.11:g.2387527G>A	ExAC,TOPMed,gnomAD
rs752397925	p.Pro375Leu	missense variant	-	NC_000017.11:g.2387526G>A	ExAC,gnomAD
rs1246793932	p.Ala376Val	missense variant	-	NC_000017.11:g.2387523G>A	TOPMed,gnomAD
rs1346120774	p.Pro379Arg	missense variant	-	NC_000017.11:g.2387514G>C	gnomAD
rs929461157	p.His381Gln	missense variant	-	NC_000017.11:g.2387507G>T	TOPMed
rs1316351159	p.His381Leu	missense variant	-	NC_000017.11:g.2387508T>A	TOPMed
rs750888578	p.Pro382Ala	missense variant	-	NC_000017.11:g.2387506G>C	ExAC,gnomAD
rs750888578	p.Pro382Ser	missense variant	-	NC_000017.11:g.2387506G>A	ExAC,gnomAD
rs375958114	p.Pro384Ser	missense variant	-	NC_000017.11:g.2387500G>A	ESP,ExAC,TOPMed,gnomAD
rs762365176	p.His385Arg	missense variant	-	NC_000017.11:g.2387496T>C	ExAC,gnomAD
rs762365176	p.His385Pro	missense variant	-	NC_000017.11:g.2387496T>G	ExAC,gnomAD
rs776689513	p.Pro386Ser	missense variant	-	NC_000017.11:g.2387494G>A	ExAC,gnomAD
rs768787755	p.Pro386Leu	missense variant	-	NC_000017.11:g.2387493G>A	ExAC,TOPMed,gnomAD
rs151061793	p.His387Tyr	missense variant	-	NC_000017.11:g.2387491G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His387ThrPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.2387491G>-	NCI-TCGA
rs771729445	p.Val389Met	missense variant	-	NC_000017.11:g.2387485C>T	ExAC,TOPMed,gnomAD
rs1206479282	p.Ala390Val	missense variant	-	NC_000017.11:g.2387481G>A	TOPMed
rs1486010014	p.Ala390Pro	missense variant	-	NC_000017.11:g.2387482C>G	TOPMed
rs1259076973	p.Leu391Pro	missense variant	-	NC_000017.11:g.2387478A>G	TOPMed
NCI-TCGA novel	p.Pro393Leu	missense variant	-	NC_000017.11:g.2387472G>A	NCI-TCGA
rs539260627	p.Ala394Val	missense variant	-	NC_000017.11:g.2387469G>A	1000Genomes,ExAC,gnomAD
rs770976414	p.His395Pro	missense variant	-	NC_000017.11:g.2387466T>G	ExAC,gnomAD
rs373932523	p.Val398Met	missense variant	-	NC_000017.11:g.2387458C>T	ESP,ExAC,TOPMed,gnomAD
rs1479731845	p.Val398Ala	missense variant	-	NC_000017.11:g.2387457A>G	TOPMed
rs752242178	p.Gln399His	missense variant	-	NC_000017.11:g.2387453C>A	ExAC,gnomAD
rs780928098	p.Gln401His	missense variant	-	NC_000017.11:g.2387447C>G	ExAC,gnomAD
rs1340305450	p.Gln404Lys	missense variant	-	NC_000017.11:g.2387440G>T	gnomAD
rs1364700432	p.Lys406Thr	missense variant	-	NC_000017.11:g.2387433T>G	TOPMed
rs754636674	p.Thr407Ile	missense variant	-	NC_000017.11:g.2387430G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr407Ser	missense variant	-	NC_000017.11:g.2387431T>A	NCI-TCGA
rs1163434037	p.Pro408Leu	missense variant	-	NC_000017.11:g.2387427G>A	gnomAD
rs1410096147	p.Pro410Leu	missense variant	-	NC_000017.11:g.2387421G>A	gnomAD
rs762242404	p.Ala411Thr	missense variant	-	NC_000017.11:g.2387419C>T	ExAC,gnomAD
rs762242404	p.Ala411Pro	missense variant	-	NC_000017.11:g.2387419C>G	ExAC,gnomAD
rs373155746	p.Pro412Leu	missense variant	-	NC_000017.11:g.2387415G>A	ESP,ExAC,TOPMed,gnomAD
rs956522729	p.Pro413Leu	missense variant	-	NC_000017.11:g.2387412G>A	TOPMed
rs1477338624	p.Pro413Ser	missense variant	-	NC_000017.11:g.2387413G>A	gnomAD
rs764033932	p.Pro414Leu	missense variant	-	NC_000017.11:g.2387409G>A	ExAC,TOPMed,gnomAD
rs775476651	p.Pro416Leu	missense variant	-	NC_000017.11:g.2387403G>A	ExAC,TOPMed,gnomAD
rs1220913349	p.Pro419Leu	missense variant	-	NC_000017.11:g.2387394G>A	gnomAD
rs1308224185	p.Ala420Thr	missense variant	-	NC_000017.11:g.2387392C>T	gnomAD
rs1275645370	p.Gln421Glu	missense variant	-	NC_000017.11:g.2387389G>C	gnomAD
rs1217352995	p.Thr422Ser	missense variant	-	NC_000017.11:g.2387386T>A	TOPMed,gnomAD
rs1352514357	p.Val424Leu	missense variant	-	NC_000017.11:g.2387380C>G	TOPMed
rs759892069	p.Pro425Ser	missense variant	-	NC_000017.11:g.2387377G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro425Gln	missense variant	-	NC_000017.11:g.2387376G>T	NCI-TCGA
rs1270379357	p.Ala426Val	missense variant	-	NC_000017.11:g.2387373G>A	TOPMed
rs1407193313	p.Ala426Thr	missense variant	-	NC_000017.11:g.2387374C>T	gnomAD
rs1343235609	p.Pro427Ser	missense variant	-	NC_000017.11:g.2387371G>A	gnomAD
NCI-TCGA novel	p.Ala432Thr	missense variant	-	NC_000017.11:g.2387356C>T	NCI-TCGA
NCI-TCGA novel	p.Ala432Val	missense variant	-	NC_000017.11:g.2387355G>A	NCI-TCGA
rs749177823	p.Thr433Met	missense variant	-	NC_000017.11:g.2387352G>A	ExAC,gnomAD
rs1421183847	p.Gly435Val	missense variant	-	NC_000017.11:g.2387346C>A	TOPMed
rs1421183847	p.Gly435Glu	missense variant	-	NC_000017.11:g.2387346C>T	TOPMed
rs773302165	p.Gly436Ser	missense variant	-	NC_000017.11:g.2387344C>T	ExAC,gnomAD
rs773302165	p.Gly436Cys	missense variant	-	NC_000017.11:g.2387344C>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly436ValPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.2387343C>-	NCI-TCGA
NCI-TCGA novel	p.Ser438Phe	missense variant	-	NC_000017.11:g.2387337G>A	NCI-TCGA
rs1190837157	p.Thr439Met	missense variant	-	NC_000017.11:g.2387334G>A	gnomAD
rs1317817255	p.Ala442Val	missense variant	-	NC_000017.11:g.2387325G>A	gnomAD
rs1196869845	p.Ala442Thr	missense variant	-	NC_000017.11:g.2387326C>T	TOPMed,gnomAD
rs1225730597	p.His443Gln	missense variant	-	NC_000017.11:g.2387321G>C	gnomAD
rs1165580367	p.His443Tyr	missense variant	-	NC_000017.11:g.2387323G>A	TOPMed
rs1363735726	p.Thr444Ala	missense variant	-	NC_000017.11:g.2387320T>C	TOPMed
rs754655838	p.Ala445Thr	missense variant	-	NC_000017.11:g.2387317C>T	ExAC,gnomAD
rs746671975	p.Thr446Pro	missense variant	-	NC_000017.11:g.2387314T>G	ExAC,TOPMed,gnomAD
rs746671975	p.Thr446Ala	missense variant	-	NC_000017.11:g.2387314T>C	ExAC,TOPMed,gnomAD
rs1224013410	p.Thr447Ser	missense variant	-	NC_000017.11:g.2387310G>C	TOPMed,gnomAD
NCI-TCGA novel	p.His448Tyr	missense variant	-	NC_000017.11:g.2387308G>A	NCI-TCGA
rs757643358	p.Ala449Thr	missense variant	-	NC_000017.11:g.2387305C>T	ExAC,gnomAD
rs1445464942	p.Ala449Val	missense variant	-	NC_000017.11:g.2387304G>A	gnomAD
rs1445914246	p.Val451Ala	missense variant	-	NC_000017.11:g.2387298A>G	gnomAD
rs1406716334	p.Gln453Arg	missense variant	-	NC_000017.11:g.2387292T>C	TOPMed,gnomAD
rs1392983320	p.Gln453Glu	missense variant	-	NC_000017.11:g.2387293G>C	TOPMed
COSM3515204	p.Thr454Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.2387289G>A	NCI-TCGA Cosmic
rs754306472	p.Thr454Ala	missense variant	-	NC_000017.11:g.2387290T>C	ExAC,gnomAD
rs201365025	p.Val455Leu	missense variant	-	NC_000017.11:g.2387287C>G	ESP,ExAC,TOPMed,gnomAD
rs201365025	p.Val455Met	missense variant	-	NC_000017.11:g.2387287C>T	ESP,ExAC,TOPMed,gnomAD
COSM4064790	p.Asn456Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.2387283T>C	NCI-TCGA Cosmic
rs759763898	p.Val458Ile	missense variant	-	NC_000017.11:g.2387278C>T	ExAC,gnomAD
rs1486004958	p.Leu459Pro	missense variant	-	NC_000017.11:g.2387274A>G	gnomAD
rs1264599234	p.Gly461Glu	missense variant	-	NC_000017.11:g.2387268C>T	gnomAD
rs1176838733	p.Gly463Val	missense variant	-	NC_000017.11:g.2387262C>A	gnomAD
rs1237910133	p.Gly464Asp	missense variant	-	NC_000017.11:g.2387259C>T	TOPMed
rs376479734	p.Gly464Ser	missense variant	-	NC_000017.11:g.2387260C>T	ESP,ExAC,TOPMed,gnomAD
rs772919975	p.Lys465Arg	missense variant	-	NC_000017.11:g.2387256T>C	ExAC,gnomAD
rs769757715	p.Ala468Thr	missense variant	-	NC_000017.11:g.2387248C>T	ExAC,TOPMed,gnomAD
rs748101580	p.Ile470Leu	missense variant	-	NC_000017.11:g.2387242T>G	ExAC,gnomAD
rs748101580	p.Ile470Val	missense variant	-	NC_000017.11:g.2387242T>C	ExAC,gnomAD
rs768169705	p.Ala471Thr	missense variant	-	NC_000017.11:g.2387239C>T	ExAC,TOPMed,gnomAD
rs929519586	p.Ala471Gly	missense variant	-	NC_000017.11:g.2387238G>C	TOPMed,gnomAD
rs746618845	p.Pro472Ser	missense variant	-	NC_000017.11:g.2387236G>A	ExAC,TOPMed,gnomAD
rs779716020	p.Ser473Leu	missense variant	-	NC_000017.11:g.2387232G>A	ExAC,TOPMed,gnomAD
rs1455203166	p.Pro475Leu	missense variant	-	NC_000017.11:g.2387226G>A	gnomAD
rs1289204541	p.Pro475Ala	missense variant	-	NC_000017.11:g.2387227G>C	gnomAD
rs1439100422	p.Ala478Ser	missense variant	-	NC_000017.11:g.2387218C>A	gnomAD
rs1385965251	p.Ala478Val	missense variant	-	NC_000017.11:g.2387217G>A	gnomAD
rs1399216372	p.Val479Ala	missense variant	-	NC_000017.11:g.2387214A>G	TOPMed
rs1399216372	p.Val479Glu	missense variant	-	NC_000017.11:g.2387214A>T	TOPMed
rs767573184	p.Val479Leu	missense variant	-	NC_000017.11:g.2387215C>G	ExAC,TOPMed,gnomAD
rs199768323	p.Gln480His	missense variant	-	NC_000017.11:g.2387210T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751790336	p.Ala482Val	missense variant	-	NC_000017.11:g.2387205G>A	ExAC,gnomAD
rs750228275	p.Pro483Ser	missense variant	-	NC_000017.11:g.2387203G>A	ExAC,TOPMed,gnomAD
rs768116563	p.Pro486His	missense variant	-	NC_000017.11:g.2387193G>T	ExAC,TOPMed,gnomAD
rs776457448	p.Pro486Ser	missense variant	-	NC_000017.11:g.2387194G>A	ExAC,gnomAD
rs768116563	p.Pro486Arg	missense variant	-	NC_000017.11:g.2387193G>C	ExAC,TOPMed,gnomAD
COSM4909526	p.Pro487His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.2387190G>T	NCI-TCGA Cosmic
rs1202975870	p.Pro487Arg	missense variant	-	NC_000017.11:g.2387190G>C	TOPMed
rs760150673	p.Ile488Val	missense variant	-	NC_000017.11:g.2387188T>C	ExAC,TOPMed,gnomAD
rs775033754	p.His490Tyr	missense variant	-	NC_000017.11:g.2387182G>A	ExAC,gnomAD
rs1461991204	p.His490Arg	missense variant	-	NC_000017.11:g.2387181T>C	TOPMed
rs372107997	p.Val493Met	missense variant	-	NC_000017.11:g.2387173C>T	ESP,ExAC,TOPMed,gnomAD
rs1165056005	p.Ala496Thr	missense variant	-	NC_000017.11:g.2387164C>T	gnomAD
rs778130262	p.Thr497Ser	missense variant	-	NC_000017.11:g.2387160G>C	ExAC,TOPMed,gnomAD
rs770065654	p.Leu498Phe	missense variant	-	NC_000017.11:g.2387158G>A	ExAC,TOPMed,gnomAD
COSM4064788	p.His500Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.2387151T>C	NCI-TCGA Cosmic
rs748638034	p.Gly505Ser	missense variant	-	NC_000017.11:g.2387137C>T	ExAC,TOPMed,gnomAD
rs867131859	p.Pro512Leu	missense variant	-	NC_000017.11:g.2387115G>A	gnomAD
rs867131859	p.Pro512Gln	missense variant	-	NC_000017.11:g.2387115G>T	gnomAD
rs1229548287	p.Pro514Ser	missense variant	-	NC_000017.11:g.2387110G>A	gnomAD
rs780348652	p.Val515Met	missense variant	-	NC_000017.11:g.2387107C>T	ExAC,TOPMed,gnomAD
rs780348652	p.Val515Leu	missense variant	-	NC_000017.11:g.2387107C>G	ExAC,TOPMed,gnomAD
rs758628438	p.Val517Met	missense variant	-	NC_000017.11:g.2387101C>T	ExAC,gnomAD
rs1346375788	p.Ser518Asn	missense variant	-	NC_000017.11:g.2387097C>T	gnomAD
rs1385084663	p.Ile520Met	missense variant	-	NC_000017.11:g.2387090G>C	TOPMed,gnomAD
rs750625027	p.Ala521Thr	missense variant	-	NC_000017.11:g.2387089C>T	ExAC,gnomAD
COSM1381558	p.Ser525Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.2387076G>T	NCI-TCGA Cosmic
rs1481005205	p.Ser525Leu	missense variant	-	NC_000017.11:g.2387076G>A	TOPMed,gnomAD
rs1170389844	p.Ser525Ala	missense variant	-	NC_000017.11:g.2387077A>C	gnomAD
rs1196317598	p.His526Tyr	missense variant	-	NC_000017.11:g.2387074G>A	gnomAD
rs763999886	p.Val529Gly	missense variant	-	NC_000017.11:g.2387064A>C	ExAC,TOPMed,gnomAD
rs199839050	p.Gly531Arg	missense variant	-	NC_000017.11:g.2387059C>G	ESP,ExAC,TOPMed,gnomAD
rs199839050	p.Gly531Ser	missense variant	-	NC_000017.11:g.2387059C>T	ESP,ExAC,TOPMed,gnomAD
rs528548579	p.Thr532Met	missense variant	-	NC_000017.11:g.2387055G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs528548579	p.Thr532Arg	missense variant	-	NC_000017.11:g.2387055G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs61733099	p.Ala533Thr	missense variant	-	NC_000017.11:g.2387053C>T	ESP,ExAC,TOPMed,gnomAD
rs1231372785	p.Gly534Asp	missense variant	-	NC_000017.11:g.2387049C>T	TOPMed,gnomAD
COSM296179	p.Gly534Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.2387050C>A	NCI-TCGA Cosmic
rs769273118	p.Gly534Ser	missense variant	-	NC_000017.11:g.2387050C>T	ExAC,TOPMed,gnomAD
rs1231372785	p.Gly534Val	missense variant	-	NC_000017.11:g.2387049C>A	TOPMed,gnomAD
rs1330556824	p.Gly536Arg	missense variant	-	NC_000017.11:g.2387044C>T	gnomAD
rs201293144	p.Pro537Ser	missense variant	-	NC_000017.11:g.2387041G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201293144	p.Pro537Ala	missense variant	-	NC_000017.11:g.2387041G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1397653719	p.Pro537Arg	missense variant	-	NC_000017.11:g.2387040G>C	TOPMed
rs750619935	p.Pro538Arg	missense variant	-	NC_000017.11:g.2387037G>C	ExAC,TOPMed,gnomAD
rs750619935	p.Pro538Leu	missense variant	-	NC_000017.11:g.2387037G>A	ExAC,TOPMed,gnomAD
rs375681714	p.Pro538Ser	missense variant	-	NC_000017.11:g.2387038G>A	ESP,TOPMed,gnomAD
rs757551095	p.Ala539Thr	missense variant	-	NC_000017.11:g.2387035C>T	ExAC,gnomAD
rs1170403416	p.Val541Ile	missense variant	-	NC_000017.11:g.2387029C>T	gnomAD
rs1364064821	p.Met542Ile	missense variant	-	NC_000017.11:g.2387024C>T	gnomAD
rs1344685852	p.Met542Leu	missense variant	-	NC_000017.11:g.2387026T>A	TOPMed
rs753565230	p.Met542Thr	missense variant	-	NC_000017.11:g.2387025A>G	ExAC,TOPMed,gnomAD
rs1179960747	p.Ala543Val	missense variant	-	NC_000017.11:g.2387022G>A	gnomAD
rs1027916412	p.Ala543Thr	missense variant	-	NC_000017.11:g.2387023C>T	TOPMed
rs1315336675	p.Pro545Ser	missense variant	-	NC_000017.11:g.2387017G>A	TOPMed
rs1437353675	p.Pro545Leu	missense variant	-	NC_000017.11:g.2387016G>A	gnomAD
rs755974200	p.Val547Leu	missense variant	-	NC_000017.11:g.2387011C>A	ExAC,TOPMed,gnomAD
rs755974200	p.Val547Met	missense variant	-	NC_000017.11:g.2387011C>T	ExAC,TOPMed,gnomAD
rs1199704343	p.Gly548Arg	missense variant	-	NC_000017.11:g.2387008C>T	gnomAD
rs1242318762	p.Val551Met	missense variant	-	NC_000017.11:g.2386999C>T	gnomAD
rs1477612236	p.Val552Leu	missense variant	-	NC_000017.11:g.2386996C>G	TOPMed
rs766962899	p.His553Arg	missense variant	-	NC_000017.11:g.2386992T>C	ExAC,TOPMed,gnomAD
rs758997137	p.His554Gln	missense variant	-	NC_000017.11:g.2386988G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln560Ter	stop gained	-	NC_000017.11:g.2386972G>A	NCI-TCGA
rs1385219467	p.Val562Met	missense variant	-	NC_000017.11:g.2386966C>T	TOPMed,gnomAD
rs1379183240	p.Pro565Leu	missense variant	-	NC_000017.11:g.2386956G>A	gnomAD
rs762724165	p.Met568Val	missense variant	-	NC_000017.11:g.2386948T>C	ExAC,gnomAD
rs1235716728	p.Met568Ile	missense variant	-	NC_000017.11:g.2386946C>T	gnomAD
NCI-TCGA novel	p.Met568Ile	missense variant	-	NC_000017.11:g.2386946C>A	NCI-TCGA
rs1447367332	p.Pro572Ser	missense variant	-	NC_000017.11:g.2386936G>A	gnomAD
rs1286933009	p.Pro572His	missense variant	-	NC_000017.11:g.2386935G>T	gnomAD
rs868035885	p.Pro575Ser	missense variant	-	NC_000017.11:g.2386927G>A	gnomAD
rs1285359442	p.Pro575Leu	missense variant	-	NC_000017.11:g.2386926G>A	gnomAD
rs868035885	p.Pro575Thr	missense variant	-	NC_000017.11:g.2386927G>T	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0008925	Cleft Palate	disease	CTD_human
C0010823	Cytomegalovirus Infections	group	BEFREE
C0025149	Medulloblastoma	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0265219	Miller Dieker syndrome	disease	CTD_human;MGD
C0343640	African Burkitt's lymphoma	disease	BEFREE
C0376634	Craniofacial Abnormalities	group	CTD_human
C0431375	Classical Lissencephaly	disease	CTD_human
C0596263	Carcinogenesis	phenotype	BEFREE
C1837218	Cleft palate, isolated	disease	CTD_human
C1848199	X-Linked Lissencephaly	disease	CTD_human
C1848201	Subcortical Band Heterotopia	disease	CTD_human
C1955870	Classical Lissencephalies and Subcortical Band Heterotopias	disease	CTD_human
C2931822	Nasopharyngeal carcinoma	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IDA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA
GO:0003682	chromatin binding	IEA
GO:0003700	DNA-binding transcription factor activity	TAS
GO:0003713	transcription coactivator activity	TAS
GO:0003714	transcription corepressor activity	TAS
GO:0046983	protein dimerization activity	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA
GO:0006366	transcription by RNA polymerase II	TAS
GO:0007275	multicellular organism development	TAS
GO:0007569	cell aging	IEA
GO:0008285	negative regulation of cell population proliferation	TAS
GO:0051726	regulation of cell cycle	IEA
GO:1903508	positive regulation of nucleic acid-templated transcription	IEA
GO:2001234	negative regulation of apoptotic signaling pathway	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005654	nucleoplasm	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C031763	1,3-butadiene	1,3-butadiene results in decreased expression of MNT mRNA	29038090
C051246	1-methylanthracene	[1-methylanthracene co-treated with fluoranthene] results in increased expression of MNT mRNA	28329830
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in increased expression of MNT mRNA	28973690
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 decreased expression of MNT mRNA	19150397
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of MNT 3' UTR	30157460
D018501	Antirheumatic Agents	Antirheumatic Agents results in decreased expression of MNT mRNA	24449571
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of MNT mRNA	20458559
C015001	arsenite	arsenite results in decreased methylation of MNT promoter	23974009
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite results in decreased expression of MNT mRNA	29523930
D001280	Atrazine	Atrazine results in increased expression of MNT mRNA	22378314
C044887	beta-methylcholine	beta-methylcholine affects the expression of MNT mRNA	21179406
C006780	bisphenol A	bisphenol A affects the expression of MNT mRNA	25181051
C018475	butyraldehyde	butyraldehyde results in decreased expression of MNT mRNA	26079696
D002945	Cisplatin	Cisplatin results in decreased expression of MNT mRNA	27392435; 27594783;
C018021	cobaltous chloride	cobaltous chloride results in increased expression of MNT mRNA	24386269
D019327	Copper Sulfate	Copper Sulfate results in increased expression of MNT mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in increased expression of MNT mRNA	20106945; 25562108;
C000944	dicrotophos	dicrotophos results in increased expression of MNT mRNA	28302478
D004041	Dietary Fats	Dietary Fats results in decreased expression of MNT mRNA	18503570
D004317	Doxorubicin	Doxorubicin results in decreased expression of MNT mRNA	29803840
D000431	Ethanol	Ethanol affects the splicing of MNT mRNA	30319688
C007738	fluoranthene	[1-methylanthracene co-treated with fluoranthene] results in increased expression of MNT mRNA	28329830
C106014	gedunin	gedunin results in increased expression of MNT mRNA	17010675
D019833	Genistein	Genistein results in increased expression of MNT mRNA	15256057
C007836	geraniol	geraniol results in increased expression of MNT mRNA	27683099
C000593030	GSK-J4	GSK-J4 results in increased expression of MNT mRNA	29301935
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of MNT mRNA	20044591
D019344	Lactic Acid	Lactic Acid results in increased expression of MNT mRNA	30851411
D008727	Methotrexate	Methotrexate results in decreased expression of MNT mRNA	24449571
D009151	Mustard Gas	Mustard Gas results in decreased expression of MNT mRNA	15674843
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of MNT mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of MNT mRNA	25554681
C568608	PCI 5002	[PCI 5002 co-treated with Zinc] results in increased expression of MNT mRNA	18593933
C017947	sodium arsenite	sodium arsenite results in increased expression of MNT mRNA	17879257
D000077210	Sunitinib	Sunitinib results in increased expression of MNT mRNA	31533062
D013629	Tamoxifen	Tamoxifen affects the expression of MNT mRNA	20937368
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of MNT mRNA	21570461; 24058054;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of MNT mRNA	18691609
D013750	Tetrachloroethylene	Tetrachloroethylene results in increased expression of MNT mRNA	28973375
D014212	Tretinoin	Tretinoin affects the expression of MNT mRNA	16054129
C050414	tripterine	tripterine results in increased expression of MNT mRNA	17010675
D000077288	Troglitazone	Troglitazone results in decreased expression of MNT mRNA	28973697
D014414	Tungsten	Tungsten results in decreased expression of MNT mRNA	30912803
D014635	Valproic Acid	Valproic Acid affects the expression of MNT mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of MNT mRNA	28001369
D014635	Valproic Acid	Valproic Acid affects the expression of MNT mRNA	17292431
C025643	vinclozolin	vinclozolin results in decreased expression of MNT mRNA	23034163
D014810	Vitamin E	Vitamin E results in decreased expression of MNT mRNA	19244175
D024483	Vitamin K 3	Vitamin K 3 affects the expression of MNT mRNA	20044591
D015032	Zinc	[PCI 5002 co-treated with Zinc] results in increased expression of MNT mRNA	18593933

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0007	Acetylation
KW-0238	DNA-binding
KW-0539	Nucleus
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0678	Repressor
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR011598	bHLH_dom
IPR036638	HLH_DNA-bd_sf

PROSITE

PROSITE ID	PROSITE Term
PS50888	BHLH

Pfam

Pfam ID	Pfam Term
PF00010	HLH