CleftGeneDB-Search

Gene: BCO2

Basic information

Tag	Content
Uniprot ID	Q9BYV7; B0YIX5; B4DNC3; E9PBI8; E9PJJ1; Q8IUS0; Q96JC8; Q96JY5;
Entrez ID	83875
Genbank protein ID	EAW67192.1; AAH41656.2; CAC27994.1; BAG60185.1; BAB55379.1; ACA05952.1; AAK69433.1;
Genbank nucleotide ID	NM_001037290.2; NM_001256397.1; NM_031938.5; NM_001256400.1; NM_001256398.1;
Ensembl protein ID	ENSP00000437053; ENSP00000414843; ENSP00000431802; ENSP00000350314; ENSP00000354338; ENSP00000436615;
Ensembl nucleotide ID	ENSG00000197580
Gene name	Beta,beta-carotene 9',10'-oxygenase
Gene symbol	BCO2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Asymmetrically cleaves beta-carotene at the 9',10' double bond resulting in the formation of beta-apo-10'-carotenal and beta-ionone. Besides beta-carotene, lycopene is also oxidatively cleaved. The apocarotenals formed by this enzyme may be the precursors for the biosynthesis of retinoic acid or exert unknown physiological effects.
Sequence	MFFRVFLHFI RSHSATAVDF LPVMVHRLPV FKRYMGNTPQ KKAVFGQCRG LPCVAPLLTT 60 VEEAPRGISA RVWGHFPKWL NGSLLRIGPG KFEFGKDKYN HWFDGMALLH QFRMAKGTVT 120 YRSKFLQSDT YKANSAKNRI VISEFGTLAL PDPCKNVFER FMSRFELPGK AAAMTDNTNV 180 NYVRYKGDYY LCTETNFMNK VDIETLEKTE KVDWSKFIAV NGATAHPHYD LDGTAYNMGN 240 SFGPYGFSYK VIRVPPEKVD LGETIHGVQV ICSIASTEKG KPSYYHSFGM TRNYIIFIEQ 300 PLKMNLWKIA TSKIRGKAFS DGISWEPQCN TRFHVVEKRT GQLLPGRYYS KPFVTFHQIN 360 AFEDQGCVII DLCCQDNGRT LEVYQLQNLR KAGEGLDQVH NSAAKSFPRR FVLPLNVSLN 420 APEGDNLSPL SYTSASAVKQ ADGTIWCSHE NLHQEDLEKE GGIEFPQIYY DRFSGKKYHF 480 FYGCGFRHLV GDSLIKVDVV NKTLKVWRED GFYPSEPVFV PAPGTNEEDG GVILSVVITP 540 NQNESNFILV LDAKNFEELG RAEVPVQMPY GFHGTFIPI 579

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	BCO2	479437	E2RS36		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	BCO2		A0A452E744		Capra hircus	Prediction	More>>
1:1 ortholog	BCO2	83875	Q9BYV7		Homo sapiens	Prediction	More>>
1:1 ortholog	Bco2	170752	Q99NF1	CPO	Mus musculus	Publication	More>>
1:1 ortholog	BCO2	451548	H2R4A4		Pan troglodytes	Prediction	More>>
1:1 ortholog	BCO2	100344631	G1SXN4		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Bco2	315644	A3KN98		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs780599024	p.Arg4Ter	stop gained	-	NC_000011.10:g.112175611C>T	ExAC,gnomAD
COSM5124008	p.Arg4SerPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.112175604_112175605insT	NCI-TCGA Cosmic
rs1281213995	p.His8Tyr	missense variant	-	NC_000011.10:g.112175623C>T	gnomAD
rs755303166	p.Ser12Asn	missense variant	-	NC_000011.10:g.112175636G>A	ExAC,TOPMed,gnomAD
rs777303682	p.His13Arg	missense variant	-	NC_000011.10:g.112175639A>G	ExAC,gnomAD
rs770594350	p.Ala15Thr	missense variant	-	NC_000011.10:g.112175644G>A	ExAC,gnomAD
rs145373157	p.Thr16Ile	missense variant	-	NC_000011.10:g.112175648C>T	ESP,ExAC,TOPMed,gnomAD
rs1478049248	p.Thr16Ser	missense variant	-	NC_000011.10:g.112175647A>T	gnomAD
COSM923096	p.Ala17Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112175651C>G	NCI-TCGA Cosmic
rs574249150	p.Asp19Val	missense variant	-	NC_000011.10:g.112175657A>T	1000Genomes,ExAC,gnomAD
rs775490373	p.Pro22Leu	missense variant	-	NC_000011.10:g.112175666C>T	ExAC,TOPMed,gnomAD
rs373466897	p.Pro22Ser	missense variant	-	NC_000011.10:g.112175665C>T	ESP,ExAC,gnomAD
rs1422906737	p.Met24Ile	missense variant	-	NC_000011.10:g.112175673G>C	gnomAD
rs760387441	p.Met24Arg	missense variant	-	NC_000011.10:g.112175672T>G	ExAC,gnomAD
rs1198802881	p.His26Tyr	missense variant	-	NC_000011.10:g.112175677C>T	TOPMed
rs149163526	p.Arg27Trp	missense variant	-	NC_000011.10:g.112175680C>T	ESP,ExAC,gnomAD
rs776873678	p.Leu28Val	missense variant	-	NC_000011.10:g.112175683C>G	ExAC,TOPMed,gnomAD
rs765425934	p.Val30Phe	missense variant	-	NC_000011.10:g.112175689G>T	ExAC,TOPMed,gnomAD
rs768450979	p.Phe31Cys	missense variant	-	NC_000011.10:g.112179281T>G	ExAC,gnomAD
rs776462866	p.Lys32Gln	missense variant	-	NC_000011.10:g.112179283A>C	ExAC,gnomAD
rs770069481	p.Met35Ile	missense variant	-	NC_000011.10:g.112179294G>A	ExAC,gnomAD
rs761583930	p.Met35Thr	missense variant	-	NC_000011.10:g.112179293T>C	ExAC,TOPMed,gnomAD
rs1284084207	p.Asn37Thr	missense variant	-	NC_000011.10:g.112179299A>C	gnomAD
rs116056412	p.Thr38Ser	missense variant	-	NC_000011.10:g.112179302C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs116056412	p.Thr38Asn	missense variant	-	NC_000011.10:g.112179302C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766432726	p.Gln40Glu	missense variant	-	NC_000011.10:g.112179307C>G	ExAC,gnomAD
rs138791514	p.Val44Ile	missense variant	-	NC_000011.10:g.112179319G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln47His	missense variant	-	NC_000011.10:g.112179330G>C	NCI-TCGA
rs1483570960	p.Gln47Lys	missense variant	-	NC_000011.10:g.112179328C>A	TOPMed
rs35361223	p.Arg49Trp	missense variant	-	NC_000011.10:g.112179334C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs35361223	p.Arg49Gly	missense variant	-	NC_000011.10:g.112179334C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1019388741	p.Val54Ile	missense variant	-	NC_000011.10:g.112179349G>A	gnomAD
rs1019388741	p.Val54Leu	missense variant	-	NC_000011.10:g.112179349G>C	gnomAD
rs374693246	p.Ala55Thr	missense variant	-	NC_000011.10:g.112179352G>A	ESP,TOPMed
rs767133207	p.Pro56Leu	missense variant	-	NC_000011.10:g.112179356C>T	ExAC,TOPMed,gnomAD
rs1340690101	p.Glu63Val	missense variant	-	NC_000011.10:g.112179377A>T	gnomAD
rs781104452	p.Ala64Val	missense variant	-	NC_000011.10:g.112179380C>T	ExAC,gnomAD
rs542847943	p.Arg66Gln	missense variant	-	NC_000011.10:g.112179386G>A	1000Genomes,ExAC,gnomAD
rs138109510	p.Arg66Trp	missense variant	-	NC_000011.10:g.112179385C>T	ESP,ExAC,TOPMed
rs1438441198	p.Gly67Ala	missense variant	-	NC_000011.10:g.112179389G>C	TOPMed
rs763194285	p.Ile68Val	missense variant	-	NC_000011.10:g.112179391A>G	ExAC,gnomAD
rs1269253685	p.Ile68Ser	missense variant	-	NC_000011.10:g.112179392T>G	gnomAD
rs141806338	p.Arg71Ter	stop gained	-	NC_000011.10:g.112179400C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200317622	p.Arg71Gln	missense variant	-	NC_000011.10:g.112179401G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs377379758	p.Trp73Ter	stop gained	-	NC_000011.10:g.112179408G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly74Val	missense variant	-	NC_000011.10:g.112179410G>T	NCI-TCGA
rs1420077481	p.Phe76Ser	missense variant	-	NC_000011.10:g.112179416T>C	TOPMed
NCI-TCGA novel	p.Trp79CysPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.112179425G>-	NCI-TCGA
rs1362305032	p.Asn81Ser	missense variant	-	NC_000011.10:g.112179431A>G	gnomAD
rs1473418275	p.Asn81Lys	missense variant	-	NC_000011.10:g.112179432T>A	gnomAD
rs753185857	p.Gly82Ala	missense variant	-	NC_000011.10:g.112179434G>C	ExAC,gnomAD
rs760140618	p.Leu84Val	missense variant	-	NC_000011.10:g.112179439C>G	gnomAD
rs761129583	p.Leu84Pro	missense variant	-	NC_000011.10:g.112179440T>C	ExAC,TOPMed,gnomAD
rs199733159	p.Arg86Ter	stop gained	-	NC_000011.10:g.112179445C>T	1000Genomes,TOPMed,gnomAD
rs754125457	p.Arg86Gln	missense variant	-	NC_000011.10:g.112179446G>A	ExAC,TOPMed,gnomAD
rs754125457	p.Arg86Leu	missense variant	-	NC_000011.10:g.112179446G>T	ExAC,TOPMed,gnomAD
rs1402341580	p.Ile87Val	missense variant	-	NC_000011.10:g.112179448A>G	gnomAD
rs112483486	p.Ile87Asn	missense variant	-	NC_000011.10:g.112179449T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs112483486	p.Ile87Thr	missense variant	-	NC_000011.10:g.112179449T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly88Ter	stop gained	-	NC_000011.10:g.112179451G>T	NCI-TCGA
rs1326386186	p.Gly88Glu	missense variant	-	NC_000011.10:g.112179452G>A	gnomAD
rs539947425	p.Phe92Leu	missense variant	-	NC_000011.10:g.112179465C>A	1000Genomes,ExAC,gnomAD
rs201459824	p.Glu93Lys	missense variant	-	NC_000011.10:g.112179466G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1323433585	p.Phe94Leu	missense variant	-	NC_000011.10:g.112179469T>C	gnomAD
rs1001069032	p.Gly95Arg	missense variant	-	NC_000011.10:g.112179472G>C	TOPMed
rs1222276826	p.Lys96Asn	missense variant	-	NC_000011.10:g.112179477G>T	gnomAD
rs1258321564	p.Asp97Asn	missense variant	-	NC_000011.10:g.112179478G>A	gnomAD
rs1411790686	p.Lys98Asn	missense variant	-	NC_000011.10:g.112193474G>T	gnomAD
rs777114529	p.Tyr99Phe	missense variant	-	NC_000011.10:g.112193476A>T	ExAC,gnomAD
rs764679588	p.Tyr99His	missense variant	-	NC_000011.10:g.112193475T>C	ExAC,gnomAD
rs762083376	p.Asn100Asp	missense variant	-	NC_000011.10:g.112193478A>G	ExAC,TOPMed,gnomAD
rs766061956	p.His101Leu	missense variant	-	NC_000011.10:g.112193482A>T	ExAC,TOPMed,gnomAD
rs1489775673	p.His101Asn	missense variant	-	NC_000011.10:g.112193481C>A	gnomAD
rs754506732	p.Trp102Ter	stop gained	-	NC_000011.10:g.112193486G>A	ExAC,TOPMed,gnomAD
rs751116884	p.Trp102Arg	missense variant	-	NC_000011.10:g.112193484T>C	ExAC,gnomAD
rs754506732	p.Trp102Cys	missense variant	-	NC_000011.10:g.112193486G>C	ExAC,TOPMed,gnomAD
rs766975166	p.Asp104Val	missense variant	-	NC_000011.10:g.112193491A>T	ExAC,gnomAD
rs138588886	p.Gly105Arg	missense variant	-	NC_000011.10:g.112193493G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1162479781	p.Met106Val	missense variant	-	NC_000011.10:g.112193496A>G	gnomAD
rs148115889	p.Ala107Thr	missense variant	-	NC_000011.10:g.112193499G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368414104	p.Ala107Val	missense variant	-	NC_000011.10:g.112193500C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1392063348	p.Leu108Met	missense variant	-	NC_000011.10:g.112193502C>A	gnomAD
rs779206597	p.Phe112Ser	missense variant	-	NC_000011.10:g.112193515T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg113Ile	missense variant	-	NC_000011.10:g.112193518G>T	NCI-TCGA
rs746024622	p.Met114Leu	missense variant	-	NC_000011.10:g.112193520A>C	ExAC,TOPMed,gnomAD
rs140910861	p.Met114Thr	missense variant	-	NC_000011.10:g.112193521T>C	1000Genomes,gnomAD
rs746024622	p.Met114Val	missense variant	-	NC_000011.10:g.112193520A>G	ExAC,TOPMed,gnomAD
rs1469970094	p.Ala115Val	missense variant	-	NC_000011.10:g.112193524C>T	TOPMed
rs1265870484	p.Thr118Arg	missense variant	-	NC_000011.10:g.112193533C>G	gnomAD
rs1184747063	p.Val119Met	missense variant	-	NC_000011.10:g.112193535G>A	TOPMed
NCI-TCGA novel	p.Thr120Arg	missense variant	-	NC_000011.10:g.112193539C>G	NCI-TCGA
rs747076138	p.Tyr121Asn	missense variant	-	NC_000011.10:g.112193541T>A	ExAC,gnomAD
COSM6029197	p.Ser123Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112193548G>A	NCI-TCGA Cosmic
rs1203360711	p.Phe125Leu	missense variant	-	NC_000011.10:g.112193553T>C	gnomAD
rs1449478903	p.Leu126Gln	missense variant	-	NC_000011.10:g.112193557T>A	gnomAD
COSM6130949	p.Gln127Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112193559C>A	NCI-TCGA Cosmic
rs1182447876	p.Ser128Gly	missense variant	-	NC_000011.10:g.112193562A>G	gnomAD
rs190635740	p.Thr130Ile	missense variant	-	NC_000011.10:g.112193569C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1382998510	p.Thr130Ala	missense variant	-	NC_000011.10:g.112193568A>G	gnomAD
rs762253947	p.Lys132Arg	missense variant	-	NC_000011.10:g.112193575A>G	ExAC,gnomAD
rs372357598	p.Ala133Thr	missense variant	-	NC_000011.10:g.112193577G>A	ESP,ExAC,gnomAD
rs372357598	p.Ala133Ser	missense variant	-	NC_000011.10:g.112193577G>T	ESP,ExAC,gnomAD
rs139425271	p.Asn134Lys	missense variant	-	NC_000011.10:g.112193582C>G	ESP,ExAC,TOPMed,gnomAD
rs767134595	p.Ala136Thr	missense variant	-	NC_000011.10:g.112193586G>A	ExAC,gnomAD
rs368513967	p.Lys137Glu	missense variant	-	NC_000011.10:g.112193589A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn138ThrPheSerTerUnk	frameshift	-	NC_000011.10:g.112193589A>-	NCI-TCGA
rs764094222	p.Arg139Gln	missense variant	-	NC_000011.10:g.112193596G>A	ExAC,gnomAD
rs755615630	p.Arg139Ter	stop gained	-	NC_000011.10:g.112193595C>T	ExAC,TOPMed,gnomAD
rs755615630	p.Arg139Gly	missense variant	-	NC_000011.10:g.112193595C>G	ExAC,TOPMed,gnomAD
COSM1351286	p.Arg139Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112193596G>T	NCI-TCGA Cosmic
rs1290023241	p.Glu144Gln	missense variant	-	NC_000011.10:g.112193610G>C	TOPMed
rs1228770892	p.Thr147Ile	missense variant	-	NC_000011.10:g.112193620C>T	TOPMed
rs1226360055	p.Leu148Pro	missense variant	-	NC_000011.10:g.112193623T>C	gnomAD
rs201916708	p.Ala149Val	missense variant	-	NC_000011.10:g.112193626C>T	1000Genomes,ExAC,gnomAD
rs1465341160	p.Leu150Phe	missense variant	-	NC_000011.10:g.112193628C>T	gnomAD
rs796410938	p.Pro151Leu	missense variant	-	NC_000011.10:g.112193632C>T	TOPMed
NCI-TCGA novel	p.Pro151Ala	missense variant	-	NC_000011.10:g.112193631C>G	NCI-TCGA
rs796410938	p.Pro151Arg	missense variant	-	NC_000011.10:g.112193632C>G	TOPMed
rs1182038771	p.Cys154Ter	stop gained	-	NC_000011.10:g.112193642C>A	gnomAD
rs1484009855	p.Cys154Gly	missense variant	-	NC_000011.10:g.112193640T>G	TOPMed,gnomAD
rs1484009855	p.Cys154Arg	missense variant	-	NC_000011.10:g.112193640T>C	TOPMed,gnomAD
rs79045562	p.Asn156His	missense variant	-	NC_000011.10:g.112193646A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768563216	p.Val157Ile	missense variant	-	NC_000011.10:g.112193649G>A	ExAC,gnomAD
rs1458283378	p.Arg160Cys	missense variant	-	NC_000011.10:g.112193658C>T	TOPMed,gnomAD
rs1473090097	p.Arg160His	missense variant	-	NC_000011.10:g.112193659G>A	TOPMed
rs1189943671	p.Phe165Leu	missense variant	-	NC_000011.10:g.112193673T>C	TOPMed
rs748563533	p.Glu166Gly	missense variant	-	NC_000011.10:g.112193677A>G	ExAC,gnomAD
rs770305385	p.Lys170Glu	missense variant	-	NC_000011.10:g.112193688A>G	ExAC,gnomAD
rs1303584082	p.Ala171Gly	missense variant	-	NC_000011.10:g.112193692C>G	gnomAD
COSM3687085	p.Ala171Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112193691G>A	NCI-TCGA Cosmic
rs1407760508	p.Ala172Val	missense variant	-	NC_000011.10:g.112193695C>T	gnomAD
rs373987135	p.Met174Thr	missense variant	-	NC_000011.10:g.112193882T>C	ESP,TOPMed
rs1301522322	p.Met174Val	missense variant	-	NC_000011.10:g.112193881A>G	TOPMed
rs151077825	p.Asn181Thr	missense variant	-	NC_000011.10:g.112193903A>C	ESP,ExAC,gnomAD
rs776065656	p.Asn181His	missense variant	-	NC_000011.10:g.112193902A>C	ExAC,gnomAD
rs151077825	p.Asn181Ser	missense variant	-	NC_000011.10:g.112193903A>G	ESP,ExAC,gnomAD
rs151077825	p.Asn181Ile	missense variant	-	NC_000011.10:g.112193903A>T	ESP,ExAC,gnomAD
rs766237700	p.Arg184Gln	missense variant	-	NC_000011.10:g.112193912G>A	ExAC,TOPMed,gnomAD
rs200053646	p.Arg184Trp	missense variant	-	NC_000011.10:g.112193911C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1188610717	p.Lys186Arg	missense variant	-	NC_000011.10:g.112193918A>G	TOPMed
rs751370809	p.Asp188Gly	missense variant	-	NC_000011.10:g.112193924A>G	ExAC,gnomAD
rs1451569801	p.Tyr189Asp	missense variant	-	NC_000011.10:g.112193926T>G	TOPMed,gnomAD
rs1389670993	p.Cys192Arg	missense variant	-	NC_000011.10:g.112193935T>C	gnomAD
NCI-TCGA novel	p.Glu194Asp	missense variant	-	NC_000011.10:g.112193943G>T	NCI-TCGA
rs1232265718	p.Glu194Asp	missense variant	-	NC_000011.10:g.112193943G>C	TOPMed
NCI-TCGA novel	p.Met198Thr	missense variant	-	NC_000011.10:g.112193954T>C	NCI-TCGA
rs370064242	p.Met198Val	missense variant	-	NC_000011.10:g.112193953A>G	ESP,gnomAD
rs1276908947	p.Met198Ile	missense variant	-	NC_000011.10:g.112193955G>A	TOPMed
rs1423691447	p.Asn199Ser	missense variant	-	NC_000011.10:g.112193957A>G	gnomAD
rs756152604	p.Val201Met	missense variant	-	NC_000011.10:g.112193962G>A	ExAC,gnomAD
rs536357959	p.Ile203Thr	missense variant	-	NC_000011.10:g.112193969T>C	1000Genomes,ExAC,gnomAD
rs556041453	p.Glu207Gln	missense variant	-	NC_000011.10:g.112193980G>C	1000Genomes
COSM4909589	p.Glu207Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.112193980G>T	NCI-TCGA Cosmic
rs1321407097	p.Thr209Ile	missense variant	-	NC_000011.10:g.112193987C>T	TOPMed
rs757645514	p.Glu210Gly	missense variant	-	NC_000011.10:g.112193990A>G	ExAC,TOPMed,gnomAD
rs1398157527	p.Lys211Glu	missense variant	-	NC_000011.10:g.112193992A>G	TOPMed
rs747797575	p.Val212Ile	missense variant	-	NC_000011.10:g.112194653G>A	ExAC,gnomAD
COSM6067340	p.Trp214Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112194661G>T	NCI-TCGA Cosmic
rs1483074910	p.Ser215Cys	missense variant	-	NC_000011.10:g.112194662A>T	TOPMed
rs769540991	p.Ser215Asn	missense variant	-	NC_000011.10:g.112194663G>A	ExAC,gnomAD
rs772900262	p.Lys216Asn	missense variant	-	NC_000011.10:g.112194667A>T	ExAC,TOPMed,gnomAD
rs1226306776	p.Phe217Leu	missense variant	-	NC_000011.10:g.112194670T>G	TOPMed
COSM923099	p.Phe217Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112194669T>C	NCI-TCGA Cosmic
COSM4017857	p.Phe217Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112194669T>G	NCI-TCGA Cosmic
rs376257331	p.Ile218Met	missense variant	-	NC_000011.10:g.112194673T>G	ESP,ExAC,TOPMed,gnomAD
rs1449202670	p.Asn221Ser	missense variant	-	NC_000011.10:g.112194681A>G	gnomAD
rs1327677539	p.Gly222Ter	stop gained	-	NC_000011.10:g.112194683G>T	gnomAD
rs1309701978	p.Gly222Val	missense variant	-	NC_000011.10:g.112194684G>T	TOPMed
rs774276400	p.Ala223Thr	missense variant	-	NC_000011.10:g.112194686G>A	ExAC,gnomAD
rs1198815097	p.Ala225Ser	missense variant	-	NC_000011.10:g.112194692G>T	TOPMed,gnomAD
rs1258450400	p.His226Arg	missense variant	-	NC_000011.10:g.112194696A>G	gnomAD
COSM686378	p.His228Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112194701C>T	NCI-TCGA Cosmic
rs759263094	p.Tyr229Asn	missense variant	-	NC_000011.10:g.112194704T>A	ExAC,gnomAD
rs10891338	p.Leu231Gln	missense variant	-	NC_000011.10:g.112194711T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs10891338	p.Leu231Pro	missense variant	-	NC_000011.10:g.112194711T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1473467371	p.Asp232Glu	missense variant	-	NC_000011.10:g.112194715T>A	gnomAD
rs760923340	p.Gly233Arg	missense variant	-	NC_000011.10:g.112194716G>A	ExAC
rs1339418719	p.Thr234Arg	missense variant	-	NC_000011.10:g.112194720C>G	gnomAD
rs764276136	p.Thr234Ala	missense variant	-	NC_000011.10:g.112194719A>G	ExAC,gnomAD
rs1402458836	p.Tyr236Phe	missense variant	-	NC_000011.10:g.112194726A>T	TOPMed,gnomAD
rs753973136	p.Tyr236Asn	missense variant	-	NC_000011.10:g.112194725T>A	ExAC,gnomAD
rs1402458836	p.Tyr236Cys	missense variant	-	NC_000011.10:g.112194726A>G	TOPMed,gnomAD
rs370292851	p.Asn237Ser	missense variant	-	NC_000011.10:g.112194729A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs765749418	p.Met238Val	missense variant	-	NC_000011.10:g.112194731A>G	ExAC,gnomAD
rs1412093114	p.Asn240Ile	missense variant	-	NC_000011.10:g.112194738A>T	gnomAD
rs1410444325	p.Asn240Asp	missense variant	-	NC_000011.10:g.112194737A>G	TOPMed
rs750897339	p.Phe242Val	missense variant	-	NC_000011.10:g.112194743T>G	ExAC,gnomAD
rs780508988	p.Gly243Arg	missense variant	-	NC_000011.10:g.112194746G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr245His	missense variant	-	NC_000011.10:g.112194752T>C	NCI-TCGA
rs755891437	p.Tyr245Ter	stop gained	-	NC_000011.10:g.112194754T>A	ExAC,gnomAD
rs1204650375	p.Tyr245Cys	missense variant	-	NC_000011.10:g.112194753A>G	gnomAD
rs1211528857	p.Gly246Asp	missense variant	-	NC_000011.10:g.112199699G>A	gnomAD
COSM3443414	p.Ser248Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112199705C>T	NCI-TCGA Cosmic
rs146824071	p.Tyr249Cys	missense variant	-	NC_000011.10:g.112199708A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146824071	p.Tyr249Ser	missense variant	-	NC_000011.10:g.112199708A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778522647	p.Lys250Asn	missense variant	-	NC_000011.10:g.112199712G>C	ExAC,gnomAD
rs756857684	p.Lys250Glu	missense variant	-	NC_000011.10:g.112199710A>G	ExAC,gnomAD
rs1449760579	p.Ile252Met	missense variant	-	NC_000011.10:g.112199718T>G	gnomAD
rs759262486	p.Arg253Trp	missense variant	-	NC_000011.10:g.112199719C>T	ExAC,TOPMed,gnomAD
rs759262486	p.Arg253Gly	missense variant	-	NC_000011.10:g.112199719C>G	ExAC,TOPMed,gnomAD
rs202172820	p.Arg253Gln	missense variant	-	NC_000011.10:g.112199720G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs746823392	p.Val254Phe	missense variant	-	NC_000011.10:g.112199722G>T	ExAC,gnomAD
COSM3868421	p.Pro255Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112199725C>T	NCI-TCGA Cosmic
COSM3443415	p.Pro255Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112199726C>T	NCI-TCGA Cosmic
rs1295741696	p.Glu257Lys	missense variant	-	NC_000011.10:g.112199731G>A	gnomAD
rs768394271	p.Glu257Gly	missense variant	-	NC_000011.10:g.112199732A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp260Asn	missense variant	-	NC_000011.10:g.112199740G>A	NCI-TCGA
rs1434452636	p.Leu261Pro	missense variant	-	NC_000011.10:g.112199744T>C	gnomAD
NCI-TCGA novel	p.Gly262Arg	missense variant	-	NC_000011.10:g.112199746G>A	NCI-TCGA
rs776873906	p.Thr264Ser	missense variant	-	NC_000011.10:g.112199752A>T	ExAC,gnomAD
rs762066142	p.Ile265Val	missense variant	-	NC_000011.10:g.112199755A>G	ExAC,TOPMed,gnomAD
rs201346935	p.Ile265Asn	missense variant	-	NC_000011.10:g.112199756T>A	1000Genomes
rs769886791	p.His266Pro	missense variant	-	NC_000011.10:g.112199759A>C	ExAC,gnomAD
rs921403162	p.Val268Ala	missense variant	-	NC_000011.10:g.112199765T>C	TOPMed
NCI-TCGA novel	p.Val270Ala	missense variant	-	NC_000011.10:g.112199771T>C	NCI-TCGA
COSM1351287	p.Val270Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112199770G>A	NCI-TCGA Cosmic
rs773399284	p.Ile271Val	missense variant	-	NC_000011.10:g.112199773A>G	ExAC,gnomAD
rs762939938	p.Cys272Tyr	missense variant	-	NC_000011.10:g.112199777G>A	ExAC,gnomAD
rs911984959	p.Cys272Ser	missense variant	-	NC_000011.10:g.112199776T>A	gnomAD
rs911984959	p.Cys272Arg	missense variant	-	NC_000011.10:g.112199776T>C	gnomAD
rs766915126	p.Ile274Val	missense variant	-	NC_000011.10:g.112199782A>G	ExAC,gnomAD
COSM4017858	p.Ala275Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112199786C>T	NCI-TCGA Cosmic
rs1457223003	p.Thr277Ala	missense variant	-	NC_000011.10:g.112199791A>G	TOPMed
rs202014484	p.Thr277Arg	missense variant	-	NC_000011.10:g.112199792C>G	ESP,ExAC,TOPMed,gnomAD
rs576063148	p.Pro282Leu	missense variant	-	NC_000011.10:g.112199807C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1359460201	p.Ser283Phe	missense variant	-	NC_000011.10:g.112199810C>T	gnomAD
NCI-TCGA novel	p.Tyr284His	missense variant	-	NC_000011.10:g.112199812T>C	NCI-TCGA
rs1422360608	p.His286Arg	missense variant	-	NC_000011.10:g.112199819A>G	TOPMed,gnomAD
rs767953147	p.His286Tyr	missense variant	-	NC_000011.10:g.112199818C>T	ExAC,gnomAD
rs140187711	p.Ser287Arg	missense variant	-	NC_000011.10:g.112199823C>A	1000Genomes,gnomAD
rs1301368161	p.Ser287Asn	missense variant	-	NC_000011.10:g.112199822G>A	TOPMed,gnomAD
rs17113607	p.Gly289Glu	missense variant	-	NC_000011.10:g.112200613G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753077371	p.Gly289Ter	stop gained	-	NC_000011.10:g.112199827G>T	ExAC,gnomAD
rs142996860	p.Met290Val	missense variant	-	NC_000011.10:g.112200615A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1159089043	p.Thr291Ala	missense variant	-	NC_000011.10:g.112200618A>G	TOPMed
rs151085894	p.Thr291Ile	missense variant	-	NC_000011.10:g.112200619C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs369982780	p.Arg292Gly	missense variant	-	NC_000011.10:g.112200621A>G	ESP,TOPMed,gnomAD
rs1177235843	p.Asn293Lys	missense variant	-	NC_000011.10:g.112200626C>G	TOPMed
rs755809066	p.Tyr294His	missense variant	-	NC_000011.10:g.112200627T>C	ExAC,gnomAD
rs917625567	p.Tyr294Cys	missense variant	-	NC_000011.10:g.112200628A>G	TOPMed,gnomAD
rs755809066	p.Tyr294Asn	missense variant	-	NC_000011.10:g.112200627T>A	ExAC,gnomAD
rs771153659	p.Ile295Leu	missense variant	-	NC_000011.10:g.112200630A>T	ExAC,gnomAD
rs1313554352	p.Ile295Thr	missense variant	-	NC_000011.10:g.112200631T>C	gnomAD
rs1224219092	p.Ile296Val	missense variant	-	NC_000011.10:g.112200633A>G	TOPMed
rs1458052358	p.Ile298Val	missense variant	-	NC_000011.10:g.112200639A>G	TOPMed,gnomAD
rs774618293	p.Ile298Ser	missense variant	-	NC_000011.10:g.112200640T>G	ExAC,gnomAD
rs1158912016	p.Gln300Leu	missense variant	-	NC_000011.10:g.112200646A>T	gnomAD
rs1343005969	p.Pro301Ser	missense variant	-	NC_000011.10:g.112200648C>T	gnomAD
rs745926145	p.Pro301Arg	missense variant	-	NC_000011.10:g.112200649C>G	ExAC,TOPMed,gnomAD
rs1459121120	p.Leu302Val	missense variant	-	NC_000011.10:g.112200651C>G	gnomAD
rs183792404	p.Ile309Thr	missense variant	-	NC_000011.10:g.112200673T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1008239570	p.Ala310Thr	missense variant	-	NC_000011.10:g.112200675G>A	TOPMed,gnomAD
rs199747265	p.Thr311Pro	missense variant	-	NC_000011.10:g.112200678A>C	1000Genomes,ExAC,gnomAD
rs1423203879	p.Ser312Phe	missense variant	-	NC_000011.10:g.112200682C>T	gnomAD
rs1423203879	p.Ser312Tyr	missense variant	-	NC_000011.10:g.112200682C>A	gnomAD
NCI-TCGA novel	p.Lys313Asn	missense variant	-	NC_000011.10:g.112200686A>C	NCI-TCGA
rs762566089	p.Lys313Ter	stop gained	-	NC_000011.10:g.112200684A>T	ExAC,gnomAD
rs149111346	p.Arg315Gln	missense variant	-	NC_000011.10:g.112200691G>A	ESP,ExAC,TOPMed,gnomAD
rs149111346	p.Arg315Pro	missense variant	-	NC_000011.10:g.112200691G>C	ESP,ExAC,TOPMed,gnomAD
rs201362479	p.Arg315Trp	missense variant	-	NC_000011.10:g.112200690C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly316GluPheSerTerUnk	frameshift	-	NC_000011.10:g.112200691G>-	NCI-TCGA
rs143189473	p.Gly316Arg	missense variant	-	NC_000011.10:g.112200693G>A	ESP,ExAC,TOPMed,gnomAD
rs752526303	p.Gly316Glu	missense variant	-	NC_000011.10:g.112200694G>A	ExAC,TOPMed,gnomAD
rs752526303	p.Gly316Val	missense variant	-	NC_000011.10:g.112200694G>T	ExAC,TOPMed,gnomAD
rs1435721168	p.Lys317Gln	missense variant	-	NC_000011.10:g.112200696A>C	gnomAD
rs1291743917	p.Ala318Thr	missense variant	-	NC_000011.10:g.112200699G>A	gnomAD
rs200620260	p.Ala318Val	missense variant	-	NC_000011.10:g.112200700C>T	1000Genomes,ExAC,gnomAD
COSM1351288	p.Phe319Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112200702T>C	NCI-TCGA Cosmic
rs1049620068	p.Ser320Pro	missense variant	-	NC_000011.10:g.112200705T>C	TOPMed,gnomAD
rs777468697	p.Asp321Gly	missense variant	-	NC_000011.10:g.112200709A>G	ExAC,TOPMed,gnomAD
rs1347415009	p.Ile323Met	missense variant	-	NC_000011.10:g.112200716A>G	TOPMed
rs148237186	p.Ser324Asn	missense variant	-	NC_000011.10:g.112200718G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148237186	p.Ser324Thr	missense variant	-	NC_000011.10:g.112200718G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM6130948	p.Trp325Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112200722G>C	NCI-TCGA Cosmic
rs757607023	p.Glu326Ala	missense variant	-	NC_000011.10:g.112200724A>C	ExAC,gnomAD
rs779269469	p.Pro327Thr	missense variant	-	NC_000011.10:g.112200726C>A	ExAC,gnomAD
rs79220685	p.Pro327Leu	missense variant	-	NC_000011.10:g.112200727C>T	1000Genomes,TOPMed,gnomAD
rs745944544	p.Gln328Arg	missense variant	-	NC_000011.10:g.112200730A>G	ExAC,TOPMed,gnomAD
rs568027350	p.Cys329Arg	missense variant	-	NC_000011.10:g.112200732T>C	ExAC,TOPMed,gnomAD
rs780740974	p.Cys329Ter	stop gained	-	NC_000011.10:g.112200734T>A	ExAC,TOPMed,gnomAD
rs1008187720	p.Asn330Thr	missense variant	-	NC_000011.10:g.112200736A>C	TOPMed,gnomAD
rs141269805	p.Thr331Met	missense variant	-	NC_000011.10:g.112200739C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr331AsnPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.112200737_112200738insA	NCI-TCGA
rs115780398	p.Arg332Trp	missense variant	-	NC_000011.10:g.112200741C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201893014	p.Arg332Gln	missense variant	-	NC_000011.10:g.112200742G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201893014	p.Arg332Pro	missense variant	-	NC_000011.10:g.112200742G>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM4017860	p.Phe333Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112200745T>C	NCI-TCGA Cosmic
rs1404576614	p.His334Arg	missense variant	-	NC_000011.10:g.112200748A>G	TOPMed,gnomAD
rs1404576614	p.His334Pro	missense variant	-	NC_000011.10:g.112200748A>C	TOPMed,gnomAD
rs370231318	p.Val335Met	missense variant	-	NC_000011.10:g.112200750G>A	ESP,ExAC,TOPMed,gnomAD
rs1380934346	p.Val335Ala	missense variant	-	NC_000011.10:g.112200751T>C	TOPMed
rs1473207753	p.Val336Met	missense variant	-	NC_000011.10:g.112200753G>A	gnomAD
rs1441004188	p.Glu337Gly	missense variant	-	NC_000011.10:g.112200757A>G	TOPMed,gnomAD
rs1351554859	p.Glu337Gln	missense variant	-	NC_000011.10:g.112200756G>C	TOPMed,gnomAD
rs374481296	p.Arg339Cys	missense variant	-	NC_000011.10:g.112200762C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374481296	p.Arg339Ser	missense variant	-	NC_000011.10:g.112200762C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs752219938	p.Arg339His	missense variant	-	NC_000011.10:g.112200763G>A	ExAC,gnomAD
rs541148470	p.Thr340Ala	missense variant	-	NC_000011.10:g.112200765A>G	1000Genomes,ExAC
rs764075672	p.Thr340Ser	missense variant	-	NC_000011.10:g.112200766C>G	ExAC,gnomAD
rs1288344379	p.Gln342Arg	missense variant	-	NC_000011.10:g.112200772A>G	gnomAD
rs1228112270	p.Gln342Ter	stop gained	-	NC_000011.10:g.112200771C>T	gnomAD
rs755029015	p.Leu343Arg	missense variant	-	NC_000011.10:g.112202024T>G	ExAC,TOPMed,gnomAD
rs755029015	p.Leu343His	missense variant	-	NC_000011.10:g.112202024T>A	ExAC,TOPMed,gnomAD
rs577436841	p.Gly346Glu	missense variant	-	NC_000011.10:g.112202033G>A	1000Genomes
COSM923101	p.Arg347Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112202036G>A	NCI-TCGA Cosmic
rs1431460734	p.Tyr348His	missense variant	-	NC_000011.10:g.112202038T>C	TOPMed
rs1370935305	p.Ser350Asn	missense variant	-	NC_000011.10:g.112202045G>A	TOPMed
rs143564179	p.Phe353Ile	missense variant	-	NC_000011.10:g.112202053T>A	ESP,ExAC,gnomAD
rs181898566	p.Val354Ile	missense variant	-	NC_000011.10:g.112202056G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143616587	p.His357Arg	missense variant	-	NC_000011.10:g.112202066A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147138798	p.His357Tyr	missense variant	-	NC_000011.10:g.112202065C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1189658160	p.Gln358Ter	stop gained	-	NC_000011.10:g.112202068C>T	TOPMed
rs149630445	p.Asn360Ser	missense variant	-	NC_000011.10:g.112202075A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn360His	missense variant	-	NC_000011.10:g.112202074A>C	NCI-TCGA
rs550194496	p.Ala361Asp	missense variant	-	NC_000011.10:g.112202078C>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp364Gly	missense variant	-	NC_000011.10:g.112202087A>G	NCI-TCGA
rs939507133	p.Asp364Tyr	missense variant	-	NC_000011.10:g.112202086G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gln365His	missense variant	-	NC_000011.10:g.112202091G>T	NCI-TCGA
rs1349258106	p.Gly366Arg	missense variant	-	NC_000011.10:g.112202092G>C	gnomAD
NCI-TCGA novel	p.Cys367Arg	missense variant	-	NC_000011.10:g.112202095T>C	NCI-TCGA
rs768162198	p.Cys367Phe	missense variant	-	NC_000011.10:g.112202096G>T	ExAC,TOPMed,gnomAD
rs761892067	p.Ile369Thr	missense variant	-	NC_000011.10:g.112202102T>C	ExAC
rs775975502	p.Ile369Val	missense variant	-	NC_000011.10:g.112202101A>G	ExAC,TOPMed,gnomAD
rs1198906164	p.Ile370Thr	missense variant	-	NC_000011.10:g.112202105T>C	gnomAD
rs1222434633	p.Cys373Arg	missense variant	-	NC_000011.10:g.112202113T>C	TOPMed
rs765253719	p.Cys374Trp	missense variant	-	NC_000011.10:g.112202118T>G	ExAC,gnomAD
rs892694554	p.Gln375Glu	missense variant	-	NC_000011.10:g.112202119C>G	TOPMed
rs368339019	p.Asn377Ser	missense variant	-	NC_000011.10:g.112202126A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1267726780	p.Asn377Asp	missense variant	-	NC_000011.10:g.112202125A>G	TOPMed
NCI-TCGA novel	p.Gly378Val	missense variant	-	NC_000011.10:g.112202129G>T	NCI-TCGA
rs762774358	p.Arg379Gly	missense variant	-	NC_000011.10:g.112202131A>G	ExAC,gnomAD
rs1483456723	p.Glu382Gly	missense variant	-	NC_000011.10:g.112202141A>G	gnomAD
rs144400560	p.Tyr384Ter	stop gained	-	NC_000011.10:g.112202148C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751758899	p.Tyr384Cys	missense variant	-	NC_000011.10:g.112202147A>G	ExAC,gnomAD
rs751758899	p.Tyr384Phe	missense variant	-	NC_000011.10:g.112202147A>T	ExAC,gnomAD
rs958639963	p.Gln385Arg	missense variant	-	NC_000011.10:g.112202150A>G	gnomAD
rs543089317	p.Gln385Glu	missense variant	-	NC_000011.10:g.112202149C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1350898254	p.Leu386Phe	missense variant	-	NC_000011.10:g.112202154A>C	TOPMed
rs991779626	p.Asn388Ser	missense variant	-	NC_000011.10:g.112202159A>G	TOPMed,gnomAD
rs752748181	p.Leu389Pro	missense variant	-	NC_000011.10:g.112202162T>C	ExAC,gnomAD
rs756668779	p.Lys391Ter	stop gained	-	NC_000011.10:g.112202167A>T	ExAC,gnomAD
rs1182825177	p.Glu394Lys	missense variant	-	NC_000011.10:g.112202176G>A	TOPMed,gnomAD
rs778243985	p.Gly395Arg	missense variant	-	NC_000011.10:g.112202179G>A	ExAC,gnomAD
rs1330184709	p.Gly395Glu	missense variant	-	NC_000011.10:g.112202180G>A	TOPMed,gnomAD
rs778243985	p.Gly395Arg	missense variant	-	NC_000011.10:g.112202179G>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu396Pro	missense variant	-	NC_000011.10:g.112202183T>C	NCI-TCGA
rs779594295	p.Gln398Arg	missense variant	-	NC_000011.10:g.112202189A>G	ExAC,gnomAD
rs777703883	p.Val399Phe	missense variant	-	NC_000011.10:g.112213724G>T	ExAC,TOPMed,gnomAD
rs777703883	p.Val399Ile	missense variant	-	NC_000011.10:g.112213724G>A	ExAC,TOPMed,gnomAD
rs148763597	p.His400Arg	missense variant	-	NC_000011.10:g.112213728A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1214993360	p.Asn401Lys	missense variant	-	NC_000011.10:g.112213732T>A	TOPMed,gnomAD
rs1253128271	p.Ser402Thr	missense variant	-	NC_000011.10:g.112213733T>A	gnomAD
NCI-TCGA novel	p.Ala403Thr	missense variant	-	NC_000011.10:g.112213736G>A	NCI-TCGA
rs1355592560	p.Ala403Val	missense variant	-	NC_000011.10:g.112213737C>T	TOPMed
rs143776374	p.Phe407Cys	missense variant	-	NC_000011.10:g.112213749T>G	ESP,ExAC,TOPMed,gnomAD
rs779386293	p.Arg409Gln	missense variant	-	NC_000011.10:g.112213755G>A	ExAC,TOPMed,gnomAD
rs903302413	p.Arg409Ter	stop gained	-	NC_000011.10:g.112213754C>T	-
rs78952668	p.Arg410Trp	missense variant	-	NC_000011.10:g.112213757A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs553742833	p.Val412Phe	missense variant	-	NC_000011.10:g.112213763G>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Asn416Asp	missense variant	-	NC_000011.10:g.112213775A>G	NCI-TCGA
rs1299328459	p.Asn416Ser	missense variant	-	NC_000011.10:g.112213776A>G	TOPMed
rs747678472	p.Val417Asp	missense variant	-	NC_000011.10:g.112213779T>A	ExAC,TOPMed,gnomAD
rs747678472	p.Val417Ala	missense variant	-	NC_000011.10:g.112213779T>C	ExAC,TOPMed,gnomAD
rs780925251	p.Val417Ile	missense variant	-	NC_000011.10:g.112213778G>A	ExAC,gnomAD
rs1368332362	p.Ser418Asn	missense variant	-	NC_000011.10:g.112213782G>A	TOPMed
NCI-TCGA novel	p.Pro422Thr	missense variant	-	NC_000011.10:g.112213793C>A	NCI-TCGA
rs553884859	p.Glu423Lys	missense variant	-	NC_000011.10:g.112213796G>A	1000Genomes,gnomAD
COSM6067338	p.Glu423Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112213798G>T	NCI-TCGA Cosmic
rs1287262852	p.Gly424Val	missense variant	-	NC_000011.10:g.112213800G>T	TOPMed,gnomAD
rs770750319	p.Asp425Glu	missense variant	-	NC_000011.10:g.112213804C>A	ExAC,gnomAD
rs749290602	p.Asp425Asn	missense variant	-	NC_000011.10:g.112213802G>A	ExAC,gnomAD
rs1398310492	p.Asn426His	missense variant	-	NC_000011.10:g.112213805A>C	TOPMed
rs1362919978	p.Leu430Ser	missense variant	-	NC_000011.10:g.112213818T>C	TOPMed
rs774257868	p.Tyr432Cys	missense variant	-	NC_000011.10:g.112213824A>G	ExAC,TOPMed,gnomAD
COSM4900034	p.Thr433Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112213827C>T	NCI-TCGA Cosmic
rs775631328	p.Ala435Val	missense variant	-	NC_000011.10:g.112213833C>T	ExAC,gnomAD
rs1327806379	p.Ser436Cys	missense variant	-	NC_000011.10:g.112213835A>T	gnomAD
rs760765925	p.Ala437Ser	missense variant	-	NC_000011.10:g.112213838G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val438Met	missense variant	-	NC_000011.10:g.112213841G>A	NCI-TCGA
rs1486017252	p.Gln440His	missense variant	-	NC_000011.10:g.112213849G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ala441Asp	missense variant	-	NC_000011.10:g.112213851C>A	NCI-TCGA
rs753828446	p.Asp442Asn	missense variant	-	NC_000011.10:g.112213853G>A	ExAC,gnomAD
COSM3443416	p.Gly443Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112213856G>A	NCI-TCGA Cosmic
rs146858215	p.Thr444Lys	missense variant	-	NC_000011.10:g.112213860C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146858215	p.Thr444Met	missense variant	-	NC_000011.10:g.112213860C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755885754	p.Trp446Leu	missense variant	-	NC_000011.10:g.112214766G>T	ExAC,gnomAD
rs763831109	p.Trp446Cys	missense variant	-	NC_000011.10:g.112214767G>C	ExAC,gnomAD
rs753389417	p.Cys447Gly	missense variant	-	NC_000011.10:g.112214768T>G	ExAC,gnomAD
rs778931681	p.Ser448Ala	missense variant	-	NC_000011.10:g.112214771T>G	ExAC
rs150993927	p.Ser448Cys	missense variant	-	NC_000011.10:g.112214772C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1159730473	p.Leu452Arg	missense variant	-	NC_000011.10:g.112214784T>G	TOPMed
rs779871339	p.His453Tyr	missense variant	-	NC_000011.10:g.112214786C>T	ExAC
rs746804943	p.Gln454Ter	stop gained	-	NC_000011.10:g.112214789C>T	ExAC,gnomAD
rs370755350	p.Glu455Gln	missense variant	-	NC_000011.10:g.112214792G>C	ESP,ExAC,gnomAD
rs370755350	p.Glu455Lys	missense variant	-	NC_000011.10:g.112214792G>A	ESP,ExAC,gnomAD
rs748282360	p.Asp456Asn	missense variant	-	NC_000011.10:g.112214795G>A	ExAC,gnomAD
rs769725725	p.Leu457Pro	missense variant	-	NC_000011.10:g.112214799T>C	ExAC,gnomAD
rs140774357	p.Glu458Gln	missense variant	-	NC_000011.10:g.112214801G>C	1000Genomes,ExAC,gnomAD
rs139612323	p.Gly462Asp	missense variant	-	NC_000011.10:g.112214814G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1435109112	p.Ile463Thr	missense variant	-	NC_000011.10:g.112214817T>C	gnomAD
rs1355110756	p.Ile463Val	missense variant	-	NC_000011.10:g.112214816A>G	gnomAD
rs547198079	p.Phe465Cys	missense variant	-	NC_000011.10:g.112214823T>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM3443418	p.Pro466Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112214825C>T	NCI-TCGA Cosmic
rs763816506	p.Gln467Ter	stop gained	-	NC_000011.10:g.112214828C>T	ExAC,gnomAD
rs371634319	p.Gln467His	missense variant	-	NC_000011.10:g.112214830G>C	ESP,ExAC,gnomAD
rs756822165	p.Ile468Val	missense variant	-	NC_000011.10:g.112214831A>G	ExAC,gnomAD
rs374509038	p.Tyr470Cys	missense variant	-	NC_000011.10:g.112214838A>G	ESP,ExAC,TOPMed,gnomAD
rs144345630	p.Arg472Ter	stop gained	-	NC_000011.10:g.112214843C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146534695	p.Arg472Gln	missense variant	-	NC_000011.10:g.112214844G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779902095	p.Phe473Leu	missense variant	-	NC_000011.10:g.112214846T>C	ExAC,gnomAD
rs550136060	p.Phe473Leu	missense variant	-	NC_000011.10:g.112214848C>G	1000Genomes,ExAC,gnomAD
rs1286665591	p.Ser474Thr	missense variant	-	NC_000011.10:g.112214850G>C	TOPMed
rs1271304391	p.Gly475Val	missense variant	-	NC_000011.10:g.112214853G>T	gnomAD
rs914755089	p.Lys476Glu	missense variant	-	NC_000011.10:g.112214855A>G	TOPMed
rs1241749435	p.Lys477Arg	missense variant	-	NC_000011.10:g.112214859A>G	gnomAD
rs1474301428	p.His479Pro	missense variant	-	NC_000011.10:g.112214865A>C	gnomAD
rs754720038	p.Phe480Leu	missense variant	-	NC_000011.10:g.112214867T>C	ExAC,gnomAD
rs781512153	p.Phe480Leu	missense variant	-	NC_000011.10:g.112214869C>A	ExAC,gnomAD
NCI-TCGA novel	p.Phe481Leu	missense variant	-	NC_000011.10:g.112214870T>C	NCI-TCGA
rs1268316090	p.Tyr482His	missense variant	-	NC_000011.10:g.112214873T>C	gnomAD
rs770037807	p.Gly483Ser	missense variant	-	NC_000011.10:g.112214876G>A	ExAC,gnomAD
NCI-TCGA novel	p.Cys484Phe	missense variant	-	NC_000011.10:g.112214880G>T	NCI-TCGA
rs777777143	p.Cys484Trp	missense variant	-	NC_000011.10:g.112214881T>G	ExAC,gnomAD
rs1461522231	p.Gly485Val	missense variant	-	NC_000011.10:g.112214883G>T	gnomAD
rs774937117	p.Arg487Trp	missense variant	-	NC_000011.10:g.112214888C>T	ExAC,TOPMed,gnomAD
rs759998420	p.Arg487Gln	missense variant	-	NC_000011.10:g.112214889G>A	ExAC,TOPMed,gnomAD
rs1363126893	p.His488Tyr	missense variant	-	NC_000011.10:g.112214891C>T	gnomAD
rs539099785	p.Gly491Arg	missense variant	-	NC_000011.10:g.112214900G>A	1000Genomes,ExAC,gnomAD
rs539099785	p.Gly491Trp	missense variant	-	NC_000011.10:g.112214900G>T	1000Genomes,ExAC,gnomAD
rs140943596	p.Leu494Val	missense variant	-	NC_000011.10:g.112214909C>G	ESP,ExAC,TOPMed,gnomAD
rs762393662	p.Asp498Val	missense variant	-	NC_000011.10:g.112214922A>T	ExAC,gnomAD
rs766326742	p.Val499Leu	missense variant	-	NC_000011.10:g.112214924G>T	ExAC,gnomAD
rs370161382	p.Val500Met	missense variant	-	NC_000011.10:g.112214927G>A	ESP,ExAC,gnomAD
rs575732625	p.Asn501Thr	missense variant	-	NC_000011.10:g.112214931A>C	ExAC,gnomAD
rs780902962	p.Lys502Glu	missense variant	-	NC_000011.10:g.112214933A>G	ExAC,gnomAD
rs1041142833	p.Leu504Pro	missense variant	-	NC_000011.10:g.112214940T>C	TOPMed,gnomAD
rs150159392	p.Val506Ile	missense variant	-	NC_000011.10:g.112216220G>A	ESP,ExAC,TOPMed,gnomAD
COSM3443419	p.Val506Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112216221T>C	NCI-TCGA Cosmic
COSM923104	p.Glu509Ter	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.112216229G>T	NCI-TCGA Cosmic
rs769025069	p.Glu509Lys	missense variant	-	NC_000011.10:g.112216229G>A	ExAC,gnomAD
rs1452226456	p.Asp510Asn	missense variant	-	NC_000011.10:g.112216232G>A	TOPMed,gnomAD
rs776951309	p.Gly511Asp	missense variant	-	NC_000011.10:g.112216236G>A	ExAC,TOPMed,gnomAD
rs770561943	p.Tyr513Ter	stop gained	-	NC_000011.10:g.112216243T>A	ExAC,gnomAD
COSM428420	p.Ser515Ter	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.112216248C>G	NCI-TCGA Cosmic
rs1395049921	p.Pro517Arg	missense variant	-	NC_000011.10:g.112216254C>G	gnomAD
COSM1676441	p.Pro517Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112216253C>T	NCI-TCGA Cosmic
rs767367048	p.Phe519Leu	missense variant	-	NC_000011.10:g.112216259T>C	ExAC,gnomAD
rs767481704	p.Val520Ile	missense variant	-	NC_000011.10:g.112216262G>A	gnomAD
rs767481704	p.Val520Phe	missense variant	-	NC_000011.10:g.112216262G>T	gnomAD
rs775447491	p.Pro521Ser	missense variant	-	NC_000011.10:g.112216265C>T	ExAC,TOPMed,gnomAD
rs775447491	p.Pro521Ala	missense variant	-	NC_000011.10:g.112216265C>G	ExAC,TOPMed,gnomAD
rs111370662	p.Pro523Leu	missense variant	-	NC_000011.10:g.112216272C>T	TOPMed
rs111370662	p.Pro523Gln	missense variant	-	NC_000011.10:g.112216272C>A	TOPMed
rs760414114	p.Gly524Glu	missense variant	-	NC_000011.10:g.112216275G>A	ExAC,gnomAD
rs1331401420	p.Thr525Ile	missense variant	-	NC_000011.10:g.112216278C>T	gnomAD
rs150855336	p.Thr525Ala	missense variant	-	NC_000011.10:g.112216277A>G	1000Genomes,ExAC
rs1331401420	p.Thr525Asn	missense variant	-	NC_000011.10:g.112216278C>A	gnomAD
rs200147503	p.Asn526Ser	missense variant	-	NC_000011.10:g.112216281A>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu528Ala	missense variant	-	NC_000011.10:g.112216287A>C	NCI-TCGA
rs1203365370	p.Asp529Asn	missense variant	-	NC_000011.10:g.112216289G>A	TOPMed
rs750581577	p.Gly530Asp	missense variant	-	NC_000011.10:g.112216293G>A	ExAC,gnomAD
rs765550486	p.Gly530Ser	missense variant	-	NC_000011.10:g.112216292G>A	ExAC,gnomAD
rs758456879	p.Gly531Glu	missense variant	-	NC_000011.10:g.112216296G>A	ExAC,TOPMed,gnomAD
rs780457367	p.Ile533Val	missense variant	-	NC_000011.10:g.112216301A>G	ExAC,TOPMed,gnomAD
rs139841265	p.Ile533Met	missense variant	-	NC_000011.10:g.112216303T>G	1000Genomes
rs1196349382	p.Leu534Phe	missense variant	-	NC_000011.10:g.112216304C>T	TOPMed
NCI-TCGA novel	p.Val537Met	missense variant	-	NC_000011.10:g.112216313G>A	NCI-TCGA
NCI-TCGA novel	p.Ile538Phe	missense variant	-	NC_000011.10:g.112216316A>T	NCI-TCGA
rs747591724	p.Gln542Pro	missense variant	-	NC_000011.10:g.112216329A>C	ExAC,gnomAD
rs1358683968	p.Gln542Ter	stop gained	-	NC_000011.10:g.112216328C>T	TOPMed
rs1468450988	p.Asn543Lys	missense variant	-	NC_000011.10:g.112217763T>A	TOPMed,gnomAD
rs1350652976	p.Glu544Lys	missense variant	-	NC_000011.10:g.112217764G>A	gnomAD
rs781615098	p.Ile548Thr	missense variant	-	NC_000011.10:g.112217777T>C	ExAC,TOPMed,gnomAD
rs2217401	p.Ile548Leu	missense variant	-	NC_000011.10:g.112217776A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756419342	p.Val550Ile	missense variant	-	NC_000011.10:g.112217782G>A	ExAC,gnomAD
rs756419342	p.Val550Leu	missense variant	-	NC_000011.10:g.112217782G>C	ExAC,gnomAD
rs113614882	p.Asp552Glu	missense variant	-	NC_000011.10:g.112217790T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771598795	p.Ala553Gly	missense variant	-	NC_000011.10:g.112217792C>G	ExAC,gnomAD
rs1353552210	p.Lys554Met	missense variant	-	NC_000011.10:g.112217795A>T	gnomAD
rs1229339107	p.Gly560Ser	missense variant	-	NC_000011.10:g.112217812G>A	TOPMed
rs1315847139	p.Arg561Gln	missense variant	-	NC_000011.10:g.112217816G>A	TOPMed,gnomAD
rs746511655	p.Arg561Ter	stop gained	-	NC_000011.10:g.112217815C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala562Gly	missense variant	-	NC_000011.10:g.112217819C>G	NCI-TCGA
NCI-TCGA novel	p.Glu563Lys	missense variant	-	NC_000011.10:g.112217821G>A	NCI-TCGA
rs776651909	p.Glu563Ala	missense variant	-	NC_000011.10:g.112217822A>C	ExAC,gnomAD
rs1489471243	p.Glu563Ter	stop gained	-	NC_000011.10:g.112217821G>T	gnomAD
COSM294165	p.Pro565His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112217828C>A	NCI-TCGA Cosmic
rs769751190	p.Met568Thr	missense variant	-	NC_000011.10:g.112217837T>C	ExAC,gnomAD
rs761732355	p.Met568Leu	missense variant	-	NC_000011.10:g.112217836A>T	ExAC,gnomAD
rs1190734705	p.Pro569Leu	missense variant	-	NC_000011.10:g.112217840C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Tyr570Phe	missense variant	-	NC_000011.10:g.112217843A>T	NCI-TCGA
rs772862830	p.Gly571Arg	missense variant	-	NC_000011.10:g.112217845G>A	ExAC,gnomAD
NCI-TCGA novel	p.Phe572Leu	missense variant	-	NC_000011.10:g.112217848T>C	NCI-TCGA
rs766507953	p.Gly574Arg	missense variant	-	NC_000011.10:g.112217854G>C	ExAC,gnomAD
rs1420069648	p.Thr575Ala	missense variant	-	NC_000011.10:g.112217857A>G	gnomAD
rs1455289500	p.Ile577Thr	missense variant	-	NC_000011.10:g.112217864T>C	TOPMed
rs762463992	p.ProIleTer578Unk	stop lost	-	NC_000011.10:g.112217867_112217873del	ExAC
rs774460713	p.Pro578Ser	missense variant	-	NC_000011.10:g.112217866C>T	ExAC,TOPMed
rs759558199	p.Ile579Asn	missense variant	-	NC_000011.10:g.112217870T>A	ExAC,gnomAD
rs768030666	p.Ile579Met	missense variant	-	NC_000011.10:g.112217871C>G	ExAC,gnomAD
rs759558199	p.Ile579Thr	missense variant	-	NC_000011.10:g.112217870T>C	ExAC,gnomAD
rs753158849	p.Ter580Arg	stop lost	-	NC_000011.10:g.112217872T>C	ExAC,gnomAD
rs900146348	p.Ter580Trp	stop lost	-	NC_000011.10:g.112217874A>G	TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0042842	Vitamin A Deficiency	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C2697766	Interleukin 18 Measurement	phenotype	GWASCAT;GWASDB
C2699541	Cytokine Measurement	group	GWASCAT
C3815172	Interleukin 1 Beta Measurement	phenotype	GWASCAT
C3897558	Soluble Interleukin 6 Receptor Measurement	phenotype	GWASDB

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003834	beta-carotene 15,15'-monooxygenase activity	IBA
GO:0004744	retinal isomerase activity	IBA
GO:0010436	carotenoid dioxygenase activity	IBA
GO:0016702	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IDA
GO:0046872	metal ion binding	IEA
GO:0102076	beta,beta-carotene-9',10'-cleaving oxygenase activity	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001523	retinoid metabolic process	TAS
GO:0016116	carotenoid metabolic process	ISS
GO:0016119	carotene metabolic process	IDA
GO:0016121	carotene catabolic process	IDA
GO:0016121	carotene catabolic process	IBA
GO:0016122	xanthophyll metabolic process	IEA
GO:0042573	retinoic acid metabolic process	NAS
GO:0042574	retinal metabolic process	NAS
GO:0051881	regulation of mitochondrial membrane potential	ISS
GO:0055114	oxidation-reduction process	IDA
GO:2000377	regulation of reactive oxygen species metabolic process	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005739	mitochondrion	ISS
GO:0005739	mitochondrion	TAS
GO:0005739	mitochondrion	IBA
GO:0005759	mitochondrial matrix	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-162582	Signal Transduction	TAS
R-HSA-196854	Metabolism of vitamins and cofactors	TAS
R-HSA-2187338	Visual phototransduction	TAS
R-HSA-372790	Signaling by GPCR	TAS
R-HSA-388396	GPCR downstream signalling	TAS
R-HSA-418594	G alpha (i) signalling events	TAS
R-HSA-6806667	Metabolism of fat-soluble vitamins	TAS
R-HSA-975634	Retinoid metabolism and transport	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in decreased expression of BCO2 mRNA	21354444
C018855	2-tert-butylhydroquinone	2-tert-butylhydroquinone results in increased expression of BCO2 mRNA	16014739
C532308	3'-dehydrolutein	[BCO2 protein affects the metabolism of Lutein] which results in increased abundance of 3'-dehydrolutein	21106934
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of BCO2 mRNA	18648102
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in decreased expression of BCO2 mRNA	22485181
C496492	abrine	abrine results in decreased expression of BCO2 mRNA	31054353
D000082	Acetaminophen	Acetaminophen affects the expression of BCO2 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of BCO2 mRNA	22100608
D000661	Amphetamine	Amphetamine results in increased expression of BCO2 mRNA	30779732
C004984	apocarotenal	[BCO2 protein results in increased metabolism of beta Carotene] which results in increased chemical synthesis of apocarotenal	21106934
C004984	apocarotenal	[BCO2 protein results in increased metabolism of Cryptoxanthins] which results in increased chemical synthesis of apocarotenal	21106934
C004984	apocarotenal	[BCO2 protein results in increased metabolism of Lutein] which results in increased chemical synthesis of apocarotenal metabolite	21106934
C004984	apocarotenal	[BCO2 protein results in increased metabolism of Zeaxanthins] which results in increased chemical synthesis of apocarotenal metabolite	21106934
D001151	Arsenic	Arsenic affects the methylation of BCO2 gene	25304211
D001280	Atrazine	Atrazine results in increased expression of BCO2 mRNA	22378314
D019207	beta Carotene	BCO2 protein results in increased metabolism of beta Carotene	21106934
D019207	beta Carotene	[BCO2 protein results in increased metabolism of beta Carotene] which results in increased chemical synthesis of apocarotenal	21106934
D019207	beta Carotene	BCO2 protein results in increased metabolism of beta Carotene	25344780
D019207	beta Carotene	[BCO2 protein results in increased metabolism of beta Carotene] which results in increased abundance of Vitamin A	25344780
C006780	bisphenol A	bisphenol A results in decreased expression of BCO2 mRNA	25181051
D002104	Cadmium	Cadmium results in increased expression of BCO2 mRNA	23256528
D002251	Carbon Tetrachloride	[Carbon Tetrachloride co-treated with Ethanol] results in decreased expression of BCO2 mRNA	30517762
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of BCO2 mRNA	27339419
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of BCO2 mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of BCO2 mRNA]	31150632
D002338	Carotenoids	BCO2 gene mutant form results in decreased metabolism of Carotenoids	21106934
D002338	Carotenoids	[BCO2 gene mutant form results in decreased metabolism of Carotenoids] which results in increased abundance of Carotenoids	21106934
D002338	Carotenoids	[[BCO2 gene mutant form results in decreased metabolism of Carotenoids] which results in increased abundance of Carotenoids] which results in increased expression of SOD2 protein	21106934
D002338	Carotenoids	BCO2 protein results in increased oxidation of and results in increased cleavage of Carotenoids	21106934
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of BCO2 mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased expression of BCO2 mRNA	27392435
D019327	Copper Sulfate	Copper Sulfate results in increased expression of BCO2 mRNA	19549813
D065366	Cryptoxanthins	BCO2 protein results in increased metabolism of Cryptoxanthins	21106934
D065366	Cryptoxanthins	[BCO2 protein results in increased metabolism of Cryptoxanthins] which results in increased chemical synthesis of apocarotenal	21106934
D003471	Cuprizone	Cuprizone results in decreased expression of BCO2 mRNA	26577399
D016572	Cyclosporine	Cyclosporine results in decreased expression of BCO2 mRNA	20106945; 27989131;
D004052	Diethylnitrosamine	Diethylnitrosamine results in decreased expression of BCO2 mRNA	24535843
D004726	Endosulfan	Endosulfan results in decreased expression of BCO2 mRNA	29391264
D000431	Ethanol	[Carbon Tetrachloride co-treated with Ethanol] results in decreased expression of BCO2 mRNA	30517762
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of BCO2 mRNA	23129252
D017313	Fenretinide	Fenretinide results in decreased expression of BCO2 mRNA	28973697
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of BCO2 mRNA	25613284
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of BCO2 mRNA	27392435
C008261	lead acetate	lead acetate results in decreased expression of BCO2 mRNA	22609695
D014975	Lutein	BCO2 protein affects the metabolism of Lutein	21106934
D014975	Lutein	[BCO2 protein affects the metabolism of Lutein] which results in increased abundance of 3'-dehydrolutein	21106934
D014975	Lutein	BCO2 protein results in increased metabolism of Lutein	21106934
D014975	Lutein	[BCO2 protein results in increased metabolism of Lutein] which results in increased chemical synthesis of apocarotenal metabolite	21106934
D058185	Magnetite Nanoparticles	[Succimer co-treated with Magnetite Nanoparticles] results in decreased expression of BCO2 mRNA	26378955
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of BCO2 mRNA	23179753
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of BCO2 mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of BCO2 mRNA	25620056
C007350	nitrofen	nitrofen results in increased expression of BCO2 protein	25344780
D009966	Orphenadrine	Orphenadrine affects the expression of BCO2 mRNA	23665939
D052638	Particulate Matter	Particulate Matter results in decreased expression of BCO2 mRNA	29703138
D052638	Particulate Matter	[BCO2 gene mutant form affects the susceptibility to Particulate Matter] which results in increased expression of BCO2 mRNA	21222557; 21222557;
C031181	phenanthrene	phenanthrene results in increased expression of BCO2 mRNA	19457238
D010634	Phenobarbital	Phenobarbital results in increased expression of BCO2 mRNA	19270015
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of BCO2 mRNA	19710929
C006253	pirinixic acid	pirinixic acid results in increased expression of BCO2 mRNA	17426115
D011285	Pregnenolone Carbonitrile	Pregnenolone Carbonitrile results in decreased expression of BCO2 mRNA	28903501
C045950	propiconazole	propiconazole results in decreased expression of BCO2 mRNA	21278054
C005556	propionaldehyde	propionaldehyde results in increased expression of BCO2 mRNA	26079696
D012402	Rotenone	Rotenone results in decreased expression of BCO2 mRNA	28374803
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of BCO2 mRNA]	31150632
D012834	Silver	Silver results in increased expression of BCO2 mRNA	27131904
C017947	sodium arsenite	sodium arsenite results in increased expression of BCO2 mRNA	16014739
D004113	Succimer	[Succimer co-treated with Magnetite Nanoparticles] results in decreased expression of BCO2 mRNA	26378955
D000077210	Sunitinib	Sunitinib results in decreased expression of BCO2 mRNA	31533062
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of BCO2 mRNA	20106945
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of BCO2 mRNA	25613284
D013853	Thioacetamide	Thioacetamide results in decreased expression of BCO2 mRNA	23411599
D014212	Tretinoin	Tretinoin results in increased expression of BCO2 mRNA	23724009
C013320	tris(2-butoxyethyl) phosphate	tris(2-butoxyethyl) phosphate affects the expression of BCO2 mRNA	29024780
D014635	Valproic Acid	Valproic Acid results in decreased methylation of BCO2 gene	29154799
D001335	Vehicle Emissions	[BCO2 gene mutant form affects the susceptibility to Vehicle Emissions] which results in increased expression of BCO2 mRNA	21222557; 21222557;
C025643	vinclozolin	vinclozolin results in increased expression of BCO2 mRNA	22570695
D014801	Vitamin A	[BCO2 protein results in increased metabolism of beta Carotene] which results in increased abundance of Vitamin A	25344780
D065146	Zeaxanthins	[BCO2 gene mutant form results in decreased metabolism of Zeaxanthins] which results in increased expression of HIF1A protein	21106934
D065146	Zeaxanthins	[BCO2 gene mutant form results in decreased metabolism of Zeaxanthins] which results in increased expression of MAPK1 protein modified form	21106934
D065146	Zeaxanthins	[BCO2 gene mutant form results in decreased metabolism of Zeaxanthins] which results in increased expression of MAPK3 protein modified form	21106934
D065146	Zeaxanthins	BCO2 protein affects the metabolism of Zeaxanthins	21106934
D065146	Zeaxanthins	[BCO2 protein affects the metabolism of Zeaxanthins] which results in increased abundance of Zeaxanthins metabolite	21106934
D065146	Zeaxanthins	BCO2 protein results in increased metabolism of Zeaxanthins	21106934
D065146	Zeaxanthins	[BCO2 protein results in increased metabolism of Zeaxanthins] which results in increased chemical synthesis of apocarotenal metabolite	21106934
D065146	Zeaxanthins	Zeaxanthins results in increased expression of BCO2 mRNA	21106934

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0223	Dioxygenase
KW-0408	Iron
KW-0479	Metal-binding
KW-0496	Mitochondrion
KW-0560	Oxidoreductase
KW-0621	Polymorphism
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR004294	Carotenoid_Oase

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF03055	RPE65