CleftGeneDB-Search

Gene: BCL3

Basic information

Tag	Content
Uniprot ID	P20749
Entrez ID	602
Genbank protein ID	AAC51348.1; AAA51815.1; AAA51816.1; AAH64993.1;
Genbank nucleotide ID	NM_005178.4
Ensembl protein ID	ENSP00000164227
Ensembl nucleotide ID	ENSG00000069399
Gene name	B-cell lymphoma 3 protein
Gene symbol	BCL3
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CL/P
Developmental stage
Data sources	Manually collected
Reference	9003487; 7668251; 15054400; 14989688; 12432504;
Functional description	Contributes to the regulation of transcriptional activation of NF-kappa-B target genes. In the cytoplasm, inhibits the nuclear translocation of the NF-kappa-B p50 subunit. In the nucleus, acts as transcriptional activator that promotes transcription of NF-kappa-B target genes. Contributes to the regulation of cell proliferation (By similarity).
Sequence	MPRCPAGAMD EGPVDLRTRP KAAGLPGAAL PLRKRPLRAP SPEPAAPRGA AGLVVPLDPL 60 RGGCDLPAVP GPPHGLARPE ALYYPGALLP LYPTRAMGSP FPLVNLPTPL YPMMCPMEHP 120 LSADIAMATR ADEDGDTPLH IAVVQGNLPA VHRLVNLFQQ GGRELDIYNN LRQTPLHLAV 180 ITTLPSVVRL LVTAGASPMA LDRHGQTAAH LACEHRSPTC LRALLDSAAP GTLDLEARNY 240 DGLTALHVAV NTECQETVQL LLERGADIDA VDIKSGRSPL IHAVENNSLS MVQLLLQHGA 300 NVNAQMYSGS SALHSASGRG LLPLVRTLVR SGADSSLKNC HNDTPLMVAR SRRVIDILRG 360 KATRPASTSQ PDPSPDRSAN TSPESSSRLS SNGLLSASPS SSPSQSPPRD PPGFPMAPPN 420 FFLPSPSPPA FLPFAGVLRG PGRPVPPSPA PGGS 454

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
1K1A
1K1B

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	BCL3	531942	E1BCE6		Bos taurus	Prediction	More>>
1:1 ortholog	BCL3	102188215	A0A452EUS0		Capra hircus	Prediction	More>>
1:1 ortholog	BCL3	602	P20749	CL/P	Homo sapiens	Publication	More>>
1:1 ortholog	Bcl3	12051	Q9Z2F6		Mus musculus	Prediction	More>>
1:1 ortholog	BCL3		K7DP79		Pan troglodytes	Prediction	More>>
1:1 ortholog	Bcl3		D3ZQF8		Rattus norvegicus	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
BCL3	rs8100239T>A	Genotyping	20572854
BCL3	rs8103315C>A	Genotyping	20572854

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1301646677	p.Pro2Leu	missense variant	-	NC_000019.10:g.44748795C>T	TOPMed
rs1437943199	p.Arg3Ter	stop gained	-	NC_000019.10:g.44748797C>T	TOPMed
rs1409945901	p.Arg3Gln	missense variant	-	NC_000019.10:g.44748798G>A	TOPMed,gnomAD
rs1399087789	p.Ala6Thr	missense variant	-	NC_000019.10:g.44748806G>A	TOPMed
rs1480070988	p.Ala8Thr	missense variant	-	NC_000019.10:g.44748812G>A	TOPMed,gnomAD
rs1285650559	p.Met9Ile	missense variant	-	NC_000019.10:g.44748817G>T	gnomAD
rs1434313647	p.Glu11Gln	missense variant	-	NC_000019.10:g.44748821G>C	TOPMed
rs1338898828	p.Val14Met	missense variant	-	NC_000019.10:g.44748830G>A	gnomAD
rs1393059112	p.Thr18Pro	missense variant	-	NC_000019.10:g.44748842A>C	TOPMed
rs903985850	p.Lys21Arg	missense variant	-	NC_000019.10:g.44748852A>G	TOPMed,gnomAD
rs1000886222	p.Ala22Thr	missense variant	-	NC_000019.10:g.44748854G>A	TOPMed
rs1241507559	p.Pro26Ser	missense variant	-	NC_000019.10:g.44748866C>T	TOPMed
rs1218607986	p.Ala28Thr	missense variant	-	NC_000019.10:g.44748872G>A	gnomAD
rs1030986948	p.Ala29Glu	missense variant	-	NC_000019.10:g.44748876C>A	TOPMed
rs1289626976	p.Arg33Leu	missense variant	-	NC_000019.10:g.44748888G>T	gnomAD
rs969258640	p.Pro36Arg	missense variant	-	NC_000019.10:g.44748897C>G	TOPMed
rs969258640	p.Pro36Leu	missense variant	-	NC_000019.10:g.44748897C>T	TOPMed
rs1309356729	p.Ser41Pro	missense variant	-	NC_000019.10:g.44748911T>C	TOPMed,gnomAD
rs1219411442	p.Pro42Leu	missense variant	-	NC_000019.10:g.44748915C>T	gnomAD
rs760961930	p.Glu43Lys	missense variant	-	NC_000019.10:g.44748917G>A	ExAC,TOPMed,gnomAD
rs760961930	p.Glu43Gln	missense variant	-	NC_000019.10:g.44748917G>C	ExAC,TOPMed,gnomAD
rs932958438	p.Ala45Asp	missense variant	-	NC_000019.10:g.44748924C>A	TOPMed,gnomAD
rs932958438	p.Ala45Val	missense variant	-	NC_000019.10:g.44748924C>T	TOPMed,gnomAD
rs868370649	p.Ala45Thr	missense variant	-	NC_000019.10:g.44748923G>A	TOPMed,gnomAD
rs1346616682	p.Ala46Gly	missense variant	-	NC_000019.10:g.44748927C>G	gnomAD
rs1051354638	p.Arg48His	missense variant	-	NC_000019.10:g.44748933G>A	TOPMed
rs1166137929	p.Arg48Gly	missense variant	-	NC_000019.10:g.44748932C>G	TOPMed
rs768745302	p.Ala51Glu	missense variant	-	NC_000019.10:g.44748942C>A	ExAC,gnomAD
rs1186523733	p.Gly52Ser	missense variant	-	NC_000019.10:g.44748944G>A	TOPMed
rs1187065793	p.Gly52Asp	missense variant	-	NC_000019.10:g.44748945G>A	gnomAD
rs1318163130	p.Val54Ile	missense variant	-	NC_000019.10:g.44748950G>A	gnomAD
rs1318163130	p.Val54Leu	missense variant	-	NC_000019.10:g.44748950G>C	gnomAD
rs1204771188	p.Val55Leu	missense variant	-	NC_000019.10:g.44748953G>C	TOPMed
rs1426234951	p.Pro56Arg	missense variant	-	NC_000019.10:g.44748957C>G	TOPMed,gnomAD
rs1272708693	p.Pro56Ser	missense variant	-	NC_000019.10:g.44748956C>T	TOPMed
rs1359081851	p.Pro59Thr	missense variant	-	NC_000019.10:g.44748965C>A	gnomAD
rs762620688	p.Arg61His	missense variant	-	NC_000019.10:g.44748972G>A	ExAC,TOPMed,gnomAD
rs762620688	p.Arg61Leu	missense variant	-	NC_000019.10:g.44748972G>T	ExAC,TOPMed,gnomAD
rs1364616944	p.Gly62Arg	missense variant	-	NC_000019.10:g.44748974G>C	TOPMed,gnomAD
rs1364616944	p.Gly62Ser	missense variant	-	NC_000019.10:g.44748974G>A	TOPMed,gnomAD
rs1226692703	p.Gly63Cys	missense variant	-	NC_000019.10:g.44748977G>T	gnomAD
rs1312169158	p.Gly63Asp	missense variant	-	NC_000019.10:g.44748978G>A	gnomAD
rs1310134646	p.Asp65Asn	missense variant	-	NC_000019.10:g.44748983G>A	TOPMed
rs766467039	p.Pro67Leu	missense variant	-	NC_000019.10:g.44748990C>T	ExAC,TOPMed,gnomAD
rs1360246384	p.Pro67Ser	missense variant	-	NC_000019.10:g.44748989C>T	gnomAD
rs759505305	p.Ala68Val	missense variant	-	NC_000019.10:g.44748993C>T	ExAC,TOPMed,gnomAD
rs1243793166	p.Pro70His	missense variant	-	NC_000019.10:g.44748999C>A	gnomAD
rs1181206158	p.Gly71Trp	missense variant	-	NC_000019.10:g.44749001G>T	TOPMed,gnomAD
rs1243263231	p.Gly71Ala	missense variant	-	NC_000019.10:g.44749002G>C	gnomAD
rs1181206158	p.Gly71Arg	missense variant	-	NC_000019.10:g.44749001G>C	TOPMed,gnomAD
rs1445898429	p.Pro72Ser	missense variant	-	NC_000019.10:g.44749004C>T	TOPMed,gnomAD
rs1445898429	p.Pro72Ala	missense variant	-	NC_000019.10:g.44749004C>G	TOPMed,gnomAD
rs1156481301	p.Pro73Thr	missense variant	-	NC_000019.10:g.44749007C>A	gnomAD
rs755856195	p.His74Gln	missense variant	-	NC_000019.10:g.44749012C>A	ExAC,TOPMed,gnomAD
rs1400492942	p.His74Asp	missense variant	-	NC_000019.10:g.44749010C>G	gnomAD
rs1400492942	p.His74Asn	missense variant	-	NC_000019.10:g.44749010C>A	gnomAD
rs763649312	p.Gly75Ser	missense variant	-	NC_000019.10:g.44749013G>A	ExAC,gnomAD
rs1379850243	p.Ala77Gly	missense variant	-	NC_000019.10:g.44749020C>G	TOPMed,gnomAD
rs1379850243	p.Ala77Val	missense variant	-	NC_000019.10:g.44749020C>T	TOPMed,gnomAD
rs757544122	p.Arg78Trp	missense variant	-	NC_000019.10:g.44749022C>T	ExAC,gnomAD
rs779203246	p.Pro79Leu	missense variant	-	NC_000019.10:g.44749026C>T	ExAC,TOPMed,gnomAD
rs746408408	p.Ala81Thr	missense variant	-	NC_000019.10:g.44749031G>A	ExAC,gnomAD
rs373183384	p.Leu82Phe	missense variant	-	NC_000019.10:g.44749034C>T	ExAC,TOPMed,gnomAD
rs373183384	p.Leu82Val	missense variant	-	NC_000019.10:g.44749034C>G	ExAC,TOPMed,gnomAD
rs1013969147	p.Pro85Ser	missense variant	-	NC_000019.10:g.44749043C>T	TOPMed
rs1277571604	p.Gly86Arg	missense variant	-	NC_000019.10:g.44749046G>A	TOPMed
rs201526615	p.Gly86Glu	missense variant	-	NC_000019.10:g.44751227G>A	1000Genomes
rs765593954	p.Ala87Gly	missense variant	-	NC_000019.10:g.44751230C>G	ExAC,TOPMed,gnomAD
rs1206236809	p.Pro90Ala	missense variant	-	NC_000019.10:g.44751238C>G	TOPMed,gnomAD
rs1206236809	p.Pro90Ser	missense variant	-	NC_000019.10:g.44751238C>T	TOPMed,gnomAD
COSM4079198	p.Tyr92Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44751245A>G	NCI-TCGA Cosmic
rs758969241	p.Thr94Ala	missense variant	-	NC_000019.10:g.44751250A>G	ExAC,TOPMed,gnomAD
rs780503593	p.Arg95Trp	missense variant	-	NC_000019.10:g.44751253C>T	ExAC,TOPMed,gnomAD
rs899315490	p.Arg95Gln	missense variant	-	NC_000019.10:g.44751254G>A	gnomAD
rs899315490	p.Arg95Leu	missense variant	-	NC_000019.10:g.44751254G>T	gnomAD
rs747158597	p.Ala96Thr	missense variant	-	NC_000019.10:g.44751256G>A	ExAC,TOPMed
rs747158597	p.Ala96Pro	missense variant	-	NC_000019.10:g.44751256G>C	ExAC,TOPMed
rs755034202	p.Pro100Leu	missense variant	-	NC_000019.10:g.44751269C>T	ExAC,TOPMed,gnomAD
rs1296676287	p.Pro100Ser	missense variant	-	NC_000019.10:g.44751268C>T	TOPMed
rs1410557354	p.Leu103Pro	missense variant	-	NC_000019.10:g.44751278T>C	gnomAD
NCI-TCGA novel	p.Val104Ala	missense variant	-	NC_000019.10:g.44751281T>C	NCI-TCGA
rs1175941368	p.Asn105Ser	missense variant	-	NC_000019.10:g.44751284A>G	TOPMed
rs373600361	p.Asn105Lys	missense variant	-	NC_000019.10:g.44751285C>A	ESP,ExAC,TOPMed,gnomAD
rs774348285	p.Leu106Val	missense variant	-	NC_000019.10:g.44751286C>G	ExAC,TOPMed,gnomAD
rs774348285	p.Leu106Met	missense variant	-	NC_000019.10:g.44751286C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro107Ser	missense variant	-	NC_000019.10:g.44751289C>T	NCI-TCGA
rs1404122388	p.Thr108Ala	missense variant	-	NC_000019.10:g.44751292A>G	TOPMed,gnomAD
rs775268394	p.Tyr111His	missense variant	-	NC_000019.10:g.44751301T>C	ExAC,TOPMed,gnomAD
rs371024213	p.Pro112Thr	missense variant	-	NC_000019.10:g.44751304C>A	ESP,gnomAD
rs760615560	p.Pro112His	missense variant	-	NC_000019.10:g.44751305C>A	ExAC,gnomAD
rs371024213	p.Pro112Ala	missense variant	-	NC_000019.10:g.44751304C>G	ESP,gnomAD
rs768087111	p.Met113Leu	missense variant	-	NC_000019.10:g.44751307A>C	ExAC,gnomAD
rs764862709	p.Met113Ile	missense variant	-	NC_000019.10:g.44751309G>A	ExAC,TOPMed,gnomAD
rs768087111	p.Met113Val	missense variant	-	NC_000019.10:g.44751307A>G	ExAC,gnomAD
rs552485571	p.Met113Arg	missense variant	-	NC_000019.10:g.44751308T>G	1000Genomes,ExAC,gnomAD
rs1222768708	p.Met114Val	missense variant	-	NC_000019.10:g.44751310A>G	gnomAD
COSM3535741	p.Pro116Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44751316C>T	NCI-TCGA Cosmic
rs763277716	p.Met117Thr	missense variant	-	NC_000019.10:g.44751320T>C	ExAC,gnomAD
rs750824997	p.Met117Val	missense variant	-	NC_000019.10:g.44751319A>G	ExAC,gnomAD
NCI-TCGA novel	p.Met117Ile	missense variant	-	NC_000019.10:g.44751321G>A	NCI-TCGA
rs1207907366	p.Glu118Gly	missense variant	-	NC_000019.10:g.44751323A>G	TOPMed
rs901965741	p.His119Asp	missense variant	-	NC_000019.10:g.44751325C>G	TOPMed
rs766714413	p.His119Gln	missense variant	-	NC_000019.10:g.44751327C>A	ExAC,gnomAD
rs766714413	p.His119Gln	missense variant	-	NC_000019.10:g.44751327C>G	ExAC,gnomAD
rs752037614	p.Leu121Ile	missense variant	-	NC_000019.10:g.44751331C>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu121Phe	missense variant	-	NC_000019.10:g.44751331C>T	NCI-TCGA
NCI-TCGA novel	p.Ala123Thr	missense variant	-	NC_000019.10:g.44751337G>A	NCI-TCGA
rs1169666739	p.Asp124His	missense variant	-	NC_000019.10:g.44751340G>C	gnomAD
NCI-TCGA novel	p.Asp124Glu	missense variant	-	NC_000019.10:g.44751342C>A	NCI-TCGA
rs140257795	p.Ala126Thr	missense variant	-	NC_000019.10:g.44751346G>A	ESP,ExAC,gnomAD
rs1303949278	p.Met127Val	missense variant	-	NC_000019.10:g.44751349A>G	gnomAD
rs756473223	p.Thr129Asn	missense variant	-	NC_000019.10:g.44751356C>A	ExAC,TOPMed,gnomAD
rs745707405	p.Arg130His	missense variant	-	NC_000019.10:g.44751359G>A	ExAC,TOPMed,gnomAD
rs778110510	p.Arg130Cys	missense variant	-	NC_000019.10:g.44751358C>T	ExAC,gnomAD
rs768583508	p.Gly135Arg	missense variant	-	NC_000019.10:g.44751373G>A	ExAC,gnomAD
rs776069320	p.Thr137Arg	missense variant	-	NC_000019.10:g.44751380C>G	ExAC,gnomAD
rs1438140757	p.Pro138Ala	missense variant	-	NC_000019.10:g.44756233C>G	gnomAD
NCI-TCGA novel	p.His140Tyr	missense variant	-	NC_000019.10:g.44756239C>T	NCI-TCGA
rs774646430	p.Ala142Ser	missense variant	-	NC_000019.10:g.44756245G>T	ExAC,gnomAD
rs759914330	p.Gln145Leu	missense variant	-	NC_000019.10:g.44756255A>T	ExAC,gnomAD
rs1405181797	p.Asn147Ile	missense variant	-	NC_000019.10:g.44756261A>T	gnomAD
rs1451965799	p.Val151Leu	missense variant	-	NC_000019.10:g.44756272G>C	TOPMed
rs776164235	p.Arg153Gln	missense variant	-	NC_000019.10:g.44756279G>A	ExAC,TOPMed,gnomAD
rs767960519	p.Arg153Trp	missense variant	-	NC_000019.10:g.44756278C>T	ExAC,gnomAD
COSM439760	p.Val155Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44756284G>T	NCI-TCGA Cosmic
rs761227482	p.Val155Gly	missense variant	-	NC_000019.10:g.44756285T>G	ExAC,gnomAD
rs200793360	p.Phe158Ser	missense variant	-	NC_000019.10:g.44756294T>C	TOPMed,gnomAD
COSM998048	p.Gln160Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.44756299C>T	NCI-TCGA Cosmic
rs545670757	p.Gln160His	missense variant	-	NC_000019.10:g.44756301G>C	ExAC,TOPMed,gnomAD
rs764276676	p.Gln160Pro	missense variant	-	NC_000019.10:g.44756300A>C	ExAC
rs765465163	p.Gly161Arg	missense variant	-	NC_000019.10:g.44756302G>C	ExAC,TOPMed,gnomAD
rs765465163	p.Gly161Trp	missense variant	-	NC_000019.10:g.44756302G>T	ExAC,TOPMed,gnomAD
rs564600093	p.Gly162Ser	missense variant	-	NC_000019.10:g.44756305G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs370832049	p.Arg163Trp	missense variant	-	NC_000019.10:g.44756308C>T	ESP,ExAC,TOPMed,gnomAD
rs370832049	p.Arg163Gly	missense variant	-	NC_000019.10:g.44756308C>G	ESP,ExAC,TOPMed,gnomAD
rs200277371	p.Arg163Gln	missense variant	-	NC_000019.10:g.44756309G>A	ESP,ExAC,TOPMed,gnomAD
rs748826061	p.Glu164Lys	missense variant	-	NC_000019.10:g.44756311G>A	ExAC,gnomAD
rs770529957	p.Leu165Phe	missense variant	-	NC_000019.10:g.44756314C>T	ExAC,gnomAD
rs774033551	p.Asp166Asn	missense variant	-	NC_000019.10:g.44756317G>A	ExAC,TOPMed,gnomAD
rs772518779	p.Asn170Ser	missense variant	-	NC_000019.10:g.44756330A>G	ExAC,gnomAD
rs1460997985	p.Asn170Lys	missense variant	-	NC_000019.10:g.44756331C>A	gnomAD
rs776392789	p.Asn170Asp	missense variant	-	NC_000019.10:g.44756329A>G	TOPMed,gnomAD
rs776392789	p.Asn170His	missense variant	-	NC_000019.10:g.44756329A>C	TOPMed,gnomAD
rs1398101495	p.Arg172Gln	missense variant	-	NC_000019.10:g.44756336G>A	TOPMed,gnomAD
rs1298420573	p.Arg172Trp	missense variant	-	NC_000019.10:g.44756335C>T	TOPMed,gnomAD
COSM4928003	p.Pro175Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44757021C>T	NCI-TCGA Cosmic
rs771795873	p.Leu176Phe	missense variant	-	NC_000019.10:g.44757023C>T	ExAC,gnomAD
rs1224347620	p.Ala179Thr	missense variant	-	NC_000019.10:g.44757032G>A	gnomAD
rs1485534724	p.Thr183Ile	missense variant	-	NC_000019.10:g.44757045C>T	gnomAD
rs950679779	p.Pro185Leu	missense variant	-	NC_000019.10:g.44757051C>T	TOPMed,gnomAD
rs1263286784	p.Val188Ile	missense variant	-	NC_000019.10:g.44757059G>A	gnomAD
rs1263286784	p.Val188Leu	missense variant	-	NC_000019.10:g.44757059G>C	gnomAD
rs1162575404	p.Arg189Gln	missense variant	-	NC_000019.10:g.44757063G>A	gnomAD
rs1385400021	p.Val192Met	missense variant	-	NC_000019.10:g.44757071G>A	gnomAD
rs1425703219	p.Thr193Pro	missense variant	-	NC_000019.10:g.44757074A>C	gnomAD
rs1165928556	p.Thr193Ile	missense variant	-	NC_000019.10:g.44757075C>T	gnomAD
rs1453723763	p.Ser197Arg	missense variant	-	NC_000019.10:g.44757088C>G	gnomAD
rs1343801812	p.Ser197Gly	missense variant	-	NC_000019.10:g.44757086A>G	gnomAD
rs1365748721	p.Met199Leu	missense variant	-	NC_000019.10:g.44757092A>C	TOPMed
rs35980686	p.Met199Thr	missense variant	-	NC_000019.10:g.44757093T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg203His	missense variant	-	NC_000019.10:g.44757105G>A	NCI-TCGA
COSM1325199	p.Gly205Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44757110G>A	NCI-TCGA Cosmic
rs1314633369	p.Gln206Glu	missense variant	-	NC_000019.10:g.44757113C>G	gnomAD
NCI-TCGA novel	p.Thr207Met	missense variant	-	NC_000019.10:g.44757117C>T	NCI-TCGA
rs775921841	p.Ala209Thr	missense variant	-	NC_000019.10:g.44757122G>A	ExAC,TOPMed,gnomAD
COSM3692860	p.Ala212Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44757132C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala212Thr	missense variant	-	NC_000019.10:g.44757131G>A	NCI-TCGA
rs138512809	p.Glu214Gln	missense variant	-	NC_000019.10:g.44757137G>C	ESP,TOPMed,gnomAD
rs138512809	p.Glu214Lys	missense variant	-	NC_000019.10:g.44757137G>A	ESP,TOPMed,gnomAD
COSM1394495	p.Arg216His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44757144G>A	NCI-TCGA Cosmic
rs1481704544	p.Arg216Cys	missense variant	-	NC_000019.10:g.44757143C>T	gnomAD
rs763413198	p.Ser217Arg	missense variant	-	NC_000019.10:g.44757148C>A	ExAC,gnomAD
rs763413198	p.Ser217Arg	missense variant	-	NC_000019.10:g.44757148C>G	ExAC,gnomAD
rs957362834	p.Pro218Leu	missense variant	-	NC_000019.10:g.44757150C>T	TOPMed,gnomAD
rs957362834	p.Pro218Arg	missense variant	-	NC_000019.10:g.44757150C>G	TOPMed,gnomAD
rs957362834	p.Pro218Gln	missense variant	-	NC_000019.10:g.44757150C>A	TOPMed,gnomAD
rs760441291	p.Cys220Ser	missense variant	-	NC_000019.10:g.44757155T>A	ExAC,gnomAD
rs1446154295	p.Leu221Met	missense variant	-	NC_000019.10:g.44757158C>A	gnomAD
rs763828094	p.Arg222Gln	missense variant	-	NC_000019.10:g.44757162G>A	ExAC,TOPMed,gnomAD
rs546909663	p.Ser227Asn	missense variant	-	NC_000019.10:g.44757177G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1468307705	p.Ala228Val	missense variant	-	NC_000019.10:g.44757180C>T	gnomAD
rs949538010	p.Ala228Thr	missense variant	-	NC_000019.10:g.44757179G>A	gnomAD
rs778502369	p.Ala229Pro	missense variant	-	NC_000019.10:g.44757182G>C	ExAC,gnomAD
rs749890130	p.Ala229Val	missense variant	-	NC_000019.10:g.44757183C>T	ExAC,gnomAD
rs779825081	p.Gly231Ser	missense variant	-	NC_000019.10:g.44757188G>A	ExAC,gnomAD
rs1372393303	p.Thr232Met	missense variant	-	NC_000019.10:g.44757192C>T	gnomAD
rs781343322	p.Leu233Phe	missense variant	-	NC_000019.10:g.44757196G>C	ExAC,gnomAD
rs1263266983	p.Asp234Glu	missense variant	-	NC_000019.10:g.44757199C>G	gnomAD
rs748699383	p.Asp234Val	missense variant	-	NC_000019.10:g.44757198A>T	ExAC,gnomAD
rs1281208864	p.Ala237Gly	missense variant	-	NC_000019.10:g.44757207C>G	TOPMed
rs868852688	p.Arg238Ser	missense variant	-	NC_000019.10:g.44757209C>A	TOPMed,gnomAD
rs1202031916	p.Arg238Leu	missense variant	-	NC_000019.10:g.44757210G>T	gnomAD
NCI-TCGA novel	p.Arg238His	missense variant	-	NC_000019.10:g.44757210G>A	NCI-TCGA
rs1404065951	p.Thr244Ile	missense variant	-	NC_000019.10:g.44757333C>T	gnomAD
rs1332692601	p.His247Tyr	missense variant	-	NC_000019.10:g.44757341C>T	gnomAD
rs1428531523	p.Val248Met	missense variant	-	NC_000019.10:g.44757344G>A	gnomAD
rs1255986385	p.Asn251Tyr	missense variant	-	NC_000019.10:g.44757353A>T	TOPMed
rs1269144294	p.Asn251Ser	missense variant	-	NC_000019.10:g.44757354A>G	gnomAD
rs749747006	p.Thr252Ser	missense variant	-	NC_000019.10:g.44757356A>T	ExAC,gnomAD
rs955029984	p.Thr252Ile	missense variant	-	NC_000019.10:g.44757357C>T	gnomAD
rs1289092924	p.Glu253Lys	missense variant	-	NC_000019.10:g.44757359G>A	gnomAD
rs1234846963	p.Glu253Gly	missense variant	-	NC_000019.10:g.44757360A>G	TOPMed
rs771030162	p.Glu253Asp	missense variant	-	NC_000019.10:g.44757361G>C	ExAC,TOPMed,gnomAD
rs1007989488	p.Cys254Phe	missense variant	-	NC_000019.10:g.44757363G>T	gnomAD
rs1049115496	p.Glu256Asp	missense variant	-	NC_000019.10:g.44757370A>C	TOPMed
rs746104910	p.Thr257Ile	missense variant	-	NC_000019.10:g.44757372C>T	ExAC,gnomAD
rs746104910	p.Thr257Ser	missense variant	-	NC_000019.10:g.44757372C>G	ExAC,gnomAD
rs774349670	p.Thr257Ala	missense variant	-	NC_000019.10:g.44757371A>G	ExAC,TOPMed,gnomAD
rs369753256	p.Val258Met	missense variant	-	NC_000019.10:g.44757374G>A	ESP,ExAC,TOPMed,gnomAD
RCV000238823	p.Val258Met	missense variant	-	NC_000019.10:g.44757374G>A	ClinVar
rs1004862507	p.Leu260Phe	missense variant	-	NC_000019.10:g.44757380C>T	TOPMed
rs765271744	p.Leu262Val	missense variant	-	NC_000019.10:g.44757386C>G	ExAC,gnomAD
rs773310158	p.Glu263Asp	missense variant	-	NC_000019.10:g.44757391G>T	ExAC,gnomAD
COSM307661	p.Glu263Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44757389G>C	NCI-TCGA Cosmic
COSM1184592	p.Arg264Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44757392C>T	NCI-TCGA Cosmic
rs1164033963	p.Arg264Gly	missense variant	-	NC_000019.10:g.44757392C>G	gnomAD
rs1392607073	p.Gly265Arg	missense variant	-	NC_000019.10:g.44757395G>C	gnomAD
rs1329745068	p.Ala266Gly	missense variant	-	NC_000019.10:g.44757399C>G	TOPMed
rs146200502	p.Ile268Met	missense variant	-	NC_000019.10:g.44757406C>G	ESP,ExAC,TOPMed,gnomAD
rs765996938	p.Ile268Val	missense variant	-	NC_000019.10:g.44757404A>G	ExAC,gnomAD
rs765996938	p.Ile268Phe	missense variant	-	NC_000019.10:g.44757404A>T	ExAC,gnomAD
rs961218620	p.Asp269Glu	missense variant	-	NC_000019.10:g.44757409C>G	TOPMed,gnomAD
rs1436564555	p.Asp269Asn	missense variant	-	NC_000019.10:g.44757407G>A	gnomAD
NCI-TCGA novel	p.Ala270Thr	missense variant	-	NC_000019.10:g.44757410G>A	NCI-TCGA
rs766413561	p.Ile273Ser	missense variant	-	NC_000019.10:g.44757650T>G	ExAC,gnomAD
rs1174159136	p.Gly276Cys	missense variant	-	NC_000019.10:g.44757658G>T	gnomAD
rs1304229547	p.Pro279Thr	missense variant	-	NC_000019.10:g.44757667C>A	gnomAD
rs1393796215	p.His282Tyr	missense variant	-	NC_000019.10:g.44757676C>T	gnomAD
rs1328677316	p.Asn286Asp	missense variant	-	NC_000019.10:g.44757688A>G	gnomAD
rs1351453745	p.Asn287His	missense variant	-	NC_000019.10:g.44757691A>C	gnomAD
rs767004697	p.Ser290Asn	missense variant	-	NC_000019.10:g.44757701G>A	ExAC,gnomAD
rs752323926	p.Val292Met	missense variant	-	NC_000019.10:g.44757706G>A	ExAC,gnomAD
rs1337771485	p.Gln297His	missense variant	-	NC_000019.10:g.44757723G>T	gnomAD
rs571056210	p.Ser308Cys	missense variant	-	NC_000019.10:g.44758277C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs780052702	p.Ser308Thr	missense variant	-	NC_000019.10:g.44758276T>A	ExAC,gnomAD
rs571056210	p.Ser308Tyr	missense variant	-	NC_000019.10:g.44758277C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs755193601	p.Ala312Gly	missense variant	-	NC_000019.10:g.44758289C>G	ExAC,gnomAD
rs748330939	p.Arg319His	missense variant	-	NC_000019.10:g.44758310G>A	ExAC,gnomAD
rs199807623	p.Gly320Arg	missense variant	-	NC_000019.10:g.44758312G>A	-
rs770880267	p.Leu322Val	missense variant	-	NC_000019.10:g.44758318C>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu324Pro	missense variant	-	NC_000019.10:g.44758325T>C	NCI-TCGA
rs1485261413	p.Thr327Met	missense variant	-	NC_000019.10:g.44758334C>T	gnomAD
rs1249342971	p.Ser335Gly	missense variant	-	NC_000019.10:g.44758357A>G	gnomAD
NCI-TCGA novel	p.Cys340Tyr	missense variant	-	NC_000019.10:g.44758373G>A	NCI-TCGA
rs1331300598	p.Asn342Ser	missense variant	-	NC_000019.10:g.44758379A>G	TOPMed
rs1361993906	p.Asp343His	missense variant	-	NC_000019.10:g.44758381G>C	gnomAD
rs1466434399	p.Leu346Phe	missense variant	-	NC_000019.10:g.44758390C>T	TOPMed
rs1169219711	p.Met347Thr	missense variant	-	NC_000019.10:g.44758394T>C	TOPMed
NCI-TCGA novel	p.Ala349Val	missense variant	-	NC_000019.10:g.44758400C>T	NCI-TCGA
NCI-TCGA novel	p.Arg350His	missense variant	-	NC_000019.10:g.44758403G>A	NCI-TCGA
rs143644908	p.Arg352His	missense variant	-	NC_000019.10:g.44758409G>A	1000Genomes,ExAC,gnomAD
rs143644908	p.Arg352Leu	missense variant	-	NC_000019.10:g.44758409G>T	1000Genomes,ExAC,gnomAD
rs1424726758	p.Arg353Trp	missense variant	-	NC_000019.10:g.44758411A>T	gnomAD
rs1296433773	p.Val354Ile	missense variant	-	NC_000019.10:g.44758724G>A	gnomAD
rs912065522	p.Ile355Met	missense variant	-	NC_000019.10:g.44758729C>G	gnomAD
NCI-TCGA novel	p.Asp356Asn	missense variant	-	NC_000019.10:g.44758730G>A	NCI-TCGA
rs763353074	p.Ile357Val	missense variant	-	NC_000019.10:g.44758733A>G	ExAC,gnomAD
rs763353074	p.Ile357Leu	missense variant	-	NC_000019.10:g.44758733A>C	ExAC,gnomAD
COSM4827207	p.Ile357Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44758735C>G	NCI-TCGA Cosmic
rs1300327777	p.Arg359Lys	missense variant	-	NC_000019.10:g.44758740G>A	gnomAD
rs766601885	p.Gly360Glu	missense variant	-	NC_000019.10:g.44758743G>A	ExAC,TOPMed,gnomAD
rs1209802744	p.Ala362Val	missense variant	-	NC_000019.10:g.44758749C>T	gnomAD
rs774952569	p.Thr363Ile	missense variant	-	NC_000019.10:g.44758752C>T	ExAC,TOPMed,gnomAD
rs774952569	p.Thr363Ser	missense variant	-	NC_000019.10:g.44758752C>G	ExAC,TOPMed,gnomAD
rs1247489122	p.Ala366Val	missense variant	-	NC_000019.10:g.44758761C>T	gnomAD
rs374166731	p.Gln370Arg	missense variant	-	NC_000019.10:g.44758773A>G	ESP,ExAC,TOPMed,gnomAD
rs542865146	p.Pro371Leu	missense variant	-	NC_000019.10:g.44758776C>T	1000Genomes,ExAC,gnomAD
rs758237888	p.Asp372Gly	missense variant	-	NC_000019.10:g.44758779A>G	ExAC,TOPMed,gnomAD
rs779676912	p.Pro373Arg	missense variant	-	NC_000019.10:g.44758782C>G	ExAC,gnomAD
COSM3535744	p.Pro373Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44758782C>T	NCI-TCGA Cosmic
rs779676912	p.Pro373His	missense variant	-	NC_000019.10:g.44758782C>A	ExAC,gnomAD
rs1300981476	p.Pro373Ala	missense variant	-	NC_000019.10:g.44758781C>G	TOPMed
rs1385163490	p.Arg377Trp	missense variant	-	NC_000019.10:g.44758793C>T	TOPMed,gnomAD
rs920821074	p.Arg377Gln	missense variant	-	NC_000019.10:g.44758794G>A	gnomAD
rs1396811848	p.Ser378Cys	missense variant	-	NC_000019.10:g.44758796A>T	gnomAD
rs760792917	p.Ser378Ile	missense variant	-	NC_000019.10:g.44758797G>T	TOPMed,gnomAD
rs780724242	p.Ala379Thr	missense variant	-	NC_000019.10:g.44758799G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asn380LysPheSerTerUnkUnkUnk	frameshift	-	NC_000019.10:g.44758803_44758804insGT	NCI-TCGA
rs747655476	p.Thr381Asn	missense variant	-	NC_000019.10:g.44758806C>A	ExAC,TOPMed,gnomAD
rs769496556	p.Ser382Thr	missense variant	-	NC_000019.10:g.44758808T>A	ExAC,gnomAD
rs772932566	p.Pro383Arg	missense variant	-	NC_000019.10:g.44758812C>G	ExAC,gnomAD
rs772932566	p.Pro383His	missense variant	-	NC_000019.10:g.44758812C>A	ExAC,gnomAD
rs772932566	p.Pro383Leu	missense variant	-	NC_000019.10:g.44758812C>T	ExAC,gnomAD
rs1006439890	p.Pro383Ser	missense variant	-	NC_000019.10:g.44758811C>T	TOPMed
rs774530057	p.Glu384Lys	missense variant	-	NC_000019.10:g.44758814G>A	ExAC,gnomAD
rs772675314	p.Glu384Asp	missense variant	-	NC_000019.10:g.44758816G>C	ExAC,TOPMed
rs760168458	p.Glu384Gly	missense variant	-	NC_000019.10:g.44758815A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu384Ter	stop gained	-	NC_000019.10:g.44758814G>T	NCI-TCGA
rs775777776	p.Arg388His	missense variant	-	NC_000019.10:g.44758827G>A	ExAC,TOPMed,gnomAD
rs1230114214	p.Arg388Gly	missense variant	-	NC_000019.10:g.44758826C>G	TOPMed,gnomAD
rs1230114214	p.Arg388Cys	missense variant	-	NC_000019.10:g.44758826C>T	TOPMed,gnomAD
rs1468572284	p.Ser390Gly	missense variant	-	NC_000019.10:g.44758832A>G	gnomAD
rs141697775	p.Ser390Asn	missense variant	-	NC_000019.10:g.44758833G>A	ESP,ExAC,TOPMed,gnomAD
rs201646511	p.Asn392Lys	missense variant	-	NC_000019.10:g.44758840T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1412107460	p.Asn392Ser	missense variant	-	NC_000019.10:g.44758839A>G	TOPMed,gnomAD
rs754092281	p.Gly393Arg	missense variant	-	NC_000019.10:g.44758841G>C	ExAC,gnomAD
rs754092281	p.Gly393Ser	missense variant	-	NC_000019.10:g.44758841G>A	ExAC,gnomAD
COSM6151518	p.Ser396Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44759437C>T	NCI-TCGA Cosmic
rs755956723	p.Ala397Val	missense variant	-	NC_000019.10:g.44759440C>T	ExAC,gnomAD
rs114036675	p.Ala397Thr	missense variant	-	NC_000019.10:g.44759439G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777392055	p.Pro399Gln	missense variant	-	NC_000019.10:g.44759446C>A	ExAC,TOPMed,gnomAD
rs777392055	p.Pro399Leu	missense variant	-	NC_000019.10:g.44759446C>T	ExAC,TOPMed,gnomAD
rs757000140	p.Ser402Leu	missense variant	-	NC_000019.10:g.44759455C>T	ExAC
NCI-TCGA novel	p.Gln405Lys	missense variant	-	NC_000019.10:g.44759463C>A	NCI-TCGA
NCI-TCGA novel	p.Gln405ValPheSerTerUnkUnk	frameshift	-	NC_000019.10:g.44759463_44759464CA>-	NCI-TCGA
rs778693221	p.Ser406Phe	missense variant	-	NC_000019.10:g.44759467C>T	ExAC,gnomAD
rs745458470	p.Pro407Ser	missense variant	-	NC_000019.10:g.44759469C>T	ExAC,TOPMed,gnomAD
rs745458470	p.Pro407Thr	missense variant	-	NC_000019.10:g.44759469C>A	ExAC,TOPMed,gnomAD
rs780522471	p.Pro408Leu	missense variant	-	NC_000019.10:g.44759473C>T	ExAC,gnomAD
COSM3103343	p.Arg409GlyPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.44759469C>-	NCI-TCGA Cosmic
rs1168418606	p.Arg409Thr	missense variant	-	NC_000019.10:g.44759476G>C	gnomAD
COSM4613936	p.Pro412LeuPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.44759480C>-	NCI-TCGA Cosmic
rs1312223908	p.Pro412Arg	missense variant	-	NC_000019.10:g.44759485C>G	gnomAD
rs769017139	p.Gly413Arg	missense variant	-	NC_000019.10:g.44759487G>C	ExAC,gnomAD
rs776840699	p.Pro415Leu	missense variant	-	NC_000019.10:g.44759494C>T	ExAC,TOPMed,gnomAD
rs150051050	p.Met416Thr	missense variant	-	NC_000019.10:g.44759497T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1303486388	p.Ala417Val	missense variant	-	NC_000019.10:g.44759500C>T	gnomAD
rs1196674283	p.Ala417Pro	missense variant	-	NC_000019.10:g.44759499G>C	TOPMed
rs769857576	p.Pro418Leu	missense variant	-	NC_000019.10:g.44759503C>T	ExAC,TOPMed,gnomAD
rs769857576	p.Pro418His	missense variant	-	NC_000019.10:g.44759503C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro418Ala	missense variant	-	NC_000019.10:g.44759502C>G	NCI-TCGA
NCI-TCGA novel	p.Phe421Leu	missense variant	-	NC_000019.10:g.44759513C>G	NCI-TCGA
rs938581877	p.Phe421Leu	missense variant	-	NC_000019.10:g.44759511T>C	TOPMed
rs1264715358	p.Ser427Phe	missense variant	-	NC_000019.10:g.44759530C>T	gnomAD
rs147326502	p.Pro429Ser	missense variant	-	NC_000019.10:g.44759535C>T	ESP,TOPMed
rs140683183	p.Ala430Thr	missense variant	-	NC_000019.10:g.44759538G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756729242	p.Phe434Leu	missense variant	-	NC_000019.10:g.44759550T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe434Ser	missense variant	-	NC_000019.10:g.44759551T>C	NCI-TCGA
NCI-TCGA novel	p.Phe434CysPheSerTerUnkUnk	frameshift	-	NC_000019.10:g.44759549_44759550CT>-	NCI-TCGA
rs764771198	p.Gly436Arg	missense variant	-	NC_000019.10:g.44759556G>A	ExAC,gnomAD
rs750127828	p.Val437Phe	missense variant	-	NC_000019.10:g.44759559G>T	ExAC,TOPMed,gnomAD
rs750127828	p.Val437Ile	missense variant	-	NC_000019.10:g.44759559G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val437GlyPheSerTerUnkUnk	frameshift	-	NC_000019.10:g.44759555_44759556insG	NCI-TCGA
rs1451648586	p.Arg439Ter	stop gained	-	NC_000019.10:g.44759565C>T	gnomAD
rs373245726	p.Arg439Gln	missense variant	-	NC_000019.10:g.44759566G>A	ESP,ExAC,TOPMed,gnomAD
rs780610389	p.Gly440Ser	missense variant	-	NC_000019.10:g.44759568G>A	ExAC,gnomAD
rs1458864299	p.Pro441Ser	missense variant	-	NC_000019.10:g.44759571C>T	gnomAD
rs1295404922	p.Gly442Asp	missense variant	-	NC_000019.10:g.44759575G>A	gnomAD
rs775770878	p.Arg443Gln	missense variant	-	NC_000019.10:g.44759578G>A	ExAC,TOPMed,gnomAD
rs755569977	p.Arg443Trp	missense variant	-	NC_000019.10:g.44759577C>T	ExAC,TOPMed,gnomAD
rs755569977	p.Arg443Gly	missense variant	-	NC_000019.10:g.44759577C>G	ExAC,TOPMed,gnomAD
rs377071242	p.Pro444Leu	missense variant	-	NC_000019.10:g.44759581C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749562814	p.Val445Leu	missense variant	-	NC_000019.10:g.44759583G>T	ExAC,gnomAD
rs749562814	p.Val445Met	missense variant	-	NC_000019.10:g.44759583G>A	ExAC,gnomAD
rs775422952	p.Pro446Ala	missense variant	-	NC_000019.10:g.44759586C>G	ExAC,gnomAD
rs1265748935	p.Pro446Leu	missense variant	-	NC_000019.10:g.44759587C>T	gnomAD
rs369712125	p.Pro447His	missense variant	-	NC_000019.10:g.44759590C>A	ESP,ExAC,gnomAD
rs1464010662	p.Pro447Ser	missense variant	-	NC_000019.10:g.44759589C>T	gnomAD
rs369712125	p.Pro447Leu	missense variant	-	NC_000019.10:g.44759590C>T	ESP,ExAC,gnomAD
rs369712125	p.Pro447Arg	missense variant	-	NC_000019.10:g.44759590C>G	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Ser448Phe	missense variant	-	NC_000019.10:g.44759593C>T	NCI-TCGA
NCI-TCGA novel	p.Ser448ProPheSerTerUnkUnk	frameshift	-	NC_000019.10:g.44759586C>-	NCI-TCGA
rs764859226	p.Pro449Ala	missense variant	-	NC_000019.10:g.44759595C>G	ExAC,TOPMed,gnomAD
rs1191776655	p.Ala450Val	missense variant	-	NC_000019.10:g.44759599C>T	TOPMed
rs1426376061	p.Pro451Arg	missense variant	-	NC_000019.10:g.44759602C>G	TOPMed
NCI-TCGA novel	p.Pro451Ser	missense variant	-	NC_000019.10:g.44759601C>T	NCI-TCGA
rs543205423	p.Gly452Ala	missense variant	-	NC_000019.10:g.44759605G>C	ExAC,TOPMed,gnomAD
rs1257785739	p.Gly452Arg	missense variant	-	NC_000019.10:g.44759604G>A	TOPMed
NCI-TCGA novel	p.Ser454Cys	missense variant	-	NC_000019.10:g.44759610A>T	NCI-TCGA
rs1036661018	p.Ter455Trp	stop lost	-	NC_000019.10:g.44759615A>G	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001339	Acute pancreatitis	disease	BEFREE
C0002395	Alzheimer's Disease	disease	BEFREE;GWASDB
C0003850	Arteriosclerosis	disease	BEFREE
C0003873	Rheumatoid Arthritis	disease	BEFREE
C0004153	Atherosclerosis	disease	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007222	Cardiovascular Diseases	group	BEFREE
C0008311	Cholangitis	disease	BEFREE
C0008312	Primary biliary cirrhosis	disease	BEFREE
C0008370	Cholestasis	disease	BEFREE
C0009319	Colitis	disease	BEFREE
C0009324	Ulcerative Colitis	disease	BEFREE
C0010346	Crohn Disease	disease	BEFREE
C0011195	Dejerine-Sottas Disease (disorder)	disease	BEFREE
C0011615	Dermatitis, Atopic	disease	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	GWASDB
C0013595	Eczema	disease	BEFREE
C0019829	Hodgkin Disease	disease	BEFREE;LHGDN
C0021390	Inflammatory Bowel Diseases	group	BEFREE
C0022660	Kidney Failure, Acute	disease	BEFREE
C0023418	leukemia	disease	BEFREE
C0023434	Chronic Lymphocytic Leukemia	disease	BEFREE
C0023452	Childhood Acute Lymphoblastic Leukemia	disease	BEFREE
C0023492	Leukemia, T-Cell	disease	BEFREE
C0023493	Adult T-Cell Lymphoma/Leukemia	disease	BEFREE
C0024299	Lymphoma	group	BEFREE;LHGDN
C0024301	Lymphoma, Follicular	disease	BEFREE
C0024305	Lymphoma, Non-Hodgkin	disease	BEFREE;LHGDN
C0024314	Lymphoproliferative Disorders	group	BEFREE
C0025202	melanoma	disease	BEFREE
C0026764	Multiple Myeloma	disease	BEFREE
C0027022	Myeloproliferative disease	group	BEFREE
C0027126	Myotonic Dystrophy	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0035335	Retinoblastoma	disease	BEFREE
C0041107	Trisomy	group	BEFREE
C0079731	B-Cell Lymphomas	group	BEFREE
C0079744	Diffuse Large B-Cell Lymphoma	disease	BEFREE
C0079772	T-Cell Lymphoma	disease	BEFREE
C0079774	Peripheral T-Cell Lymphoma	disease	BEFREE
C0153381	Malignant neoplasm of mouth	disease	BEFREE
C0202117	Low density lipoprotein cholesterol measurement	phenotype	GWASDB
C0202236	Triglycerides measurement	phenotype	GWASDB
C0206180	Ki-1+ Anaplastic Large Cell Lymphoma	disease	BEFREE;LHGDN
C0220641	Lip and Oral Cavity Carcinoma	disease	BEFREE
C0280100	Solid Neoplasm	phenotype	BEFREE
C0349782	Ischemic cardiomyopathy	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0376545	Hematologic Neoplasms	group	BEFREE
C0392885	High density lipoprotein measurement	phenotype	GWASDB
C0566602	Primary sclerosing cholangitis	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0598766	Leukemogenesis	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0810364	Cleft Lip with or without Cleft Palate	disease	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1290884	Inflammatory disorder	group	BEFREE
C1333064	Classical Hodgkin's Lymphoma	disease	BEFREE
C1334170	Indolent Non-Hodgkin Lymphoma	disease	BEFREE
C1445957	Serum total cholesterol measurement	phenotype	GWASDB
C1458155	Mammary Neoplasms	group	BEFREE
C1621719	Lymphoepithelioid lymphoma (clinical)	disease	BEFREE
C1848296	DOSAGE-SENSITIVE SEX REVERSAL	disease	BEFREE
C1956346	Coronary Artery Disease	disease	BEFREE
C2004493	Leukemia, B-Cell	disease	BEFREE
C2931822	Nasopharyngeal carcinoma	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0003700	DNA-binding transcription factor activity	IEA
GO:0005515	protein binding	IPI
GO:0008134	transcription factor binding	IPI
GO:0030674	protein binding, bridging	TAS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0002268	follicular dendritic cell differentiation	IEA
GO:0002315	marginal zone B cell differentiation	IEA
GO:0002455	humoral immune response mediated by circulating immunoglobulin	IEA
GO:0002467	germinal center formation	IEA
GO:0006351	transcription, DNA-templated	IDA
GO:0006974	cellular response to DNA damage stimulus	IDA
GO:0007249	I-kappaB kinase/NF-kappaB signaling	IDA
GO:0009615	response to virus	IDA
GO:0010225	response to UV-C	IDA
GO:0019730	antimicrobial humoral response	IEA
GO:0030198	extracellular matrix organization	IEA
GO:0030330	DNA damage response, signal transduction by p53 class mediator	IMP
GO:0032729	positive regulation of interferon-gamma production	IEA
GO:0042088	T-helper 1 type immune response	IEA
GO:0042536	negative regulation of tumor necrosis factor biosynthetic process	IEA
GO:0042742	defense response to bacterium	IEA
GO:0042771	intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IMP
GO:0042832	defense response to protozoan	IEA
GO:0042981	regulation of apoptotic process	IDA
GO:0043066	negative regulation of apoptotic process	IDA
GO:0045064	T-helper 2 cell differentiation	IEA
GO:0045082	positive regulation of interleukin-10 biosynthetic process	IEA
GO:0045415	negative regulation of interleukin-8 biosynthetic process	IMP
GO:0045727	positive regulation of translation	IMP
GO:0045892	negative regulation of transcription, DNA-templated	IDA
GO:0045893	positive regulation of transcription, DNA-templated	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA
GO:0046426	negative regulation of receptor signaling pathway via JAK-STAT	IMP
GO:0048536	spleen development	IEA
GO:0051101	regulation of DNA binding	IEP
GO:0051457	maintenance of protein location in nucleus	NAS
GO:1901222	regulation of NIK/NF-kappaB signaling	IEP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IDA
GO:0005654	nucleoplasm	IDA
GO:0005737	cytoplasm	IDA
GO:0005829	cytosol	IDA
GO:0005886	plasma membrane	IDA
GO:0030496	midbody	IDA
GO:0032991	protein-containing complex	IDA
GO:0032996	Bcl3-Bcl10 complex	IDA
GO:0033257	Bcl3/NF-kappaB2 complex	IDA
GO:0043231	intracellular membrane-bounded organelle	IDA
GO:0048471	perinuclear region of cytoplasm	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C026486	1,2,5,6-dibenzanthracene	1,2,5,6-dibenzanthracene results in increased expression of BCL3 mRNA	16269432
C031763	1,3-butadiene	1,3-butadiene results in decreased expression of BCL3 mRNA	29038090
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in decreased expression of BCL3 mRNA	28903501
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in increased expression of BCL3 mRNA	21354444
D020001	1-Butanol	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of BCL3 mRNA	29432896
C051246	1-methylanthracene	[1-methylanthracene co-treated with fluoranthene] results in increased expression of BCL3 mRNA	28329830
C051246	1-methylanthracene	SB 203580 inhibits the reaction [[1-methylanthracene co-treated with fluoranthene] results in increased expression of BCL3 mRNA]	28329830
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in increased expression of BCL3 mRNA	30723492
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in increased expression of BCL3 mRNA	25614096
C029497	2,3-bis(3'-hydroxybenzyl)butyrolactone	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in decreased expression of BCL3 mRNA	19167446
C003898	2-anisidine	2-anisidine affects the expression of BCL3 mRNA	28089782
C524042	3,5-bis(2-fluorobenzylidene)piperidin-4-one	3,5-bis(2-fluorobenzylidene)piperidin-4-one inhibits the reaction [Oxygen deficiency results in increased expression of BCL3 mRNA]	23452621
C034343	4-aminobenzhydrazide	4-aminobenzhydrazide inhibits the reaction [hydroxyhydroquinone results in increased expression of BCL3 mRNA]	24530881
C027576	4-hydroxy-2-nonenal	4-hydroxy-2-nonenal results in decreased expression of BCL3 mRNA	19191707
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 BCL3 mRNA	20018196; 20382639;
C496492	abrine	abrine results in increased expression of BCL3 mRNA	31054353
C496492	abrine	abrine results in increased expression of BCL3 mRNA	22595364
D000082	Acetaminophen	Acetaminophen results in decreased expression of BCL3 mRNA	21420995; 29067470;
D000082	Acetaminophen	Acetaminophen affects the expression of BCL3 mRNA	17562736
C016601	afimoxifene	afimoxifene inhibits the reaction [Estrogens results in decreased expression of BCL3 mRNA]	21233418
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of BCL3 mRNA	19770486
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of BCL3 mRNA	25378103
D000395	Air Pollutants, Occupational	Air Pollutants, Occupational results in increased expression of BCL3 mRNA	23195993
D000638	Amiodarone	Amiodarone results in increased expression of BCL3 mRNA	22015988
C059765	amphotericin B, deoxycholate drug combination	amphotericin B, deoxycholate drug combination results in increased expression of BCL3 mRNA	22863853
D000942	Antigens, Bacterial	[Antigens, Bacterial co-treated with Ovalbumin] results in increased expression of BCL3 mRNA	29067999
D000942	Antigens, Bacterial	MYD88 gene mutant form affects the reaction [[Antigens, Bacterial co-treated with Ovalbumin] results in increased expression of BCL3 mRNA]	29067999
D000952	Antigens, Polyomavirus Transforming	Antigens, Polyomavirus Transforming results in increased expression of BCL3 mRNA	26680231
D018501	Antirheumatic Agents	Antirheumatic Agents results in decreased expression of BCL3 mRNA	24449571
D000077237	Arsenic Trioxide	[Arsenic Trioxide co-treated with Bortezomib] results in decreased expression of BCL3 mRNA	20471514
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite affects the expression of BCL3 mRNA	17331233
C030935	benz(a)anthracene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of BCL3 mRNA	27858113
D001548	Benzalkonium Compounds	Benzalkonium Compounds results in increased expression of BCL3 mRNA	30171875
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of BCL3 mRNA	20106945; 22316170;
D001564	Benzo(a)pyrene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of BCL3 mRNA	27858113
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of BCL3 mRNA	19770486
C006703	benzo(b)fluoranthene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of BCL3 mRNA	27858113
C543008	bis(4-hydroxyphenyl)sulfone	[bis(4-hydroxyphenyl)sulfone co-treated with Tretinoin] results in decreased expression of BCL3 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the methylation of BCL3 promoter	27334623
C006780	bisphenol A	bisphenol A results in increased expression of BCL3 mRNA	25181051
C000611646	bisphenol F	bisphenol F results in increased expression of BCL3 mRNA	30951980
D000069286	Bortezomib	[Arsenic Trioxide co-treated with Bortezomib] results in decreased expression of BCL3 mRNA	20471514
D000069286	Bortezomib	Bortezomib results in decreased expression of BCL3 mRNA	20977926
C018475	butyraldehyde	butyraldehyde results in decreased expression of BCL3 mRNA	26079696
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of BCL3 mRNA	25993096
C004656	chloroacetaldehyde	chloroacetaldehyde results in decreased expression of BCL3 mRNA	25596134
C031180	chrysene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of BCL3 mRNA	27858113
D002945	Cisplatin	Cisplatin results in increased expression of BCL3 mRNA	25596134
D002945	Cisplatin	Cisplatin results in increased expression of BCL3 mRNA	24880025
D004002	Clodronic Acid	Clodronic Acid results in decreased expression of BCL3 mRNA	25596134
C023342	closantel	closantel results in increased expression of BCL3 mRNA	22015988
D019327	Copper Sulfate	Copper Sulfate results in increased expression of BCL3 mRNA	19549813
D003375	Coumestrol	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in decreased expression of BCL3 mRNA	19167446
D003375	Coumestrol	[Coumestrol co-treated with Resveratrol] results in decreased expression of BCL3 mRNA	19167446
D003471	Cuprizone	Cuprizone results in increased expression of BCL3 mRNA	27523638
D003474	Curcumin	Curcumin inhibits the reaction [Oxygen deficiency results in increased expression of BCL3 mRNA]	23452621
D003474	Curcumin	Curcumin inhibits the reaction [Trinitrobenzenesulfonic Acid results in increased expression of BCL3 mRNA]	18200517
D016572	Cyclosporine	Cyclosporine results in decreased expression of BCL3 mRNA	25596134
D016572	Cyclosporine	Cyclosporine results in increased expression of BCL3 mRNA	23958496
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in increased expression of BCL3 mRNA	23914054
D003907	Dexamethasone	Dexamethasone results in decreased expression of BCL3 mRNA	25047013
D003907	Dexamethasone	Dexamethasone results in decreased expression of BCL3 mRNA	20032058
D003907	Dexamethasone	Testosterone inhibits the reaction [Dexamethasone results in decreased expression of BCL3 mRNA]	20032058
D064730	Dexrazoxane	[Doxorubicin co-treated with Dexrazoxane] results in decreased expression of BCL3 mRNA	26873546
D003976	Diazinon	Diazinon results in increased methylation of BCL3 gene	22964155
D004008	Diclofenac	Diclofenac results in increased expression of BCL3 mRNA	26934552
C000944	dicrotophos	dicrotophos results in increased expression of BCL3 mRNA	28302478
D004026	Dieldrin	Dieldrin affects the expression of BCL3 mRNA	22546817
D019422	Dietary Sucrose	Dietary Sucrose results in increased expression of BCL3 mRNA	26033743
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of BCL3 mRNA	19850644
D004051	Diethylhexyl Phthalate	PPARA protein promotes the reaction [Diethylhexyl Phthalate results in increased expression of BCL3 mRNA]	19850644
C014476	diethyl maleate	diethyl maleate results in decreased expression of BCL3 mRNA	25270620
D004317	Doxorubicin	Doxorubicin results in decreased expression of BCL3 mRNA	29803840
D004317	Doxorubicin	[Doxorubicin co-treated with Dexrazoxane] results in decreased expression of BCL3 mRNA	26873546
D004317	Doxorubicin	Doxorubicin results in increased expression of BCL3 mRNA	26873546
C413879	EKB 569	EKB 569 results in decreased expression of BCL3 mRNA	22242139
D004726	Endosulfan	Endosulfan results in decreased expression of BCL3 mRNA	29391264
C045651	epigallocatechin gallate	epigallocatechin gallate results in increased expression of BCL3 mRNA	22079256
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of BCL3 mRNA	22079256
D004958	Estradiol	Estradiol results in decreased expression of BCL3 mRNA	23373633
D004958	Estradiol	Estradiol inhibits the reaction [IL1B protein results in increased expression of BCL3 mRNA]	12072388
D004967	Estrogens	afimoxifene inhibits the reaction [Estrogens results in decreased expression of BCL3 mRNA]	21233418
D004967	Estrogens	Estrogens results in decreased expression of BCL3 mRNA	21233418
D000431	Ethanol	Ethanol results in increased expression of BCL3 mRNA	29361514
D004997	Ethinyl Estradiol	[Ethinyl Estradiol co-treated with ESR1 protein] inhibits the reaction [IL1B protein results in increased expression of BCL3 mRNA]	12072388
D004997	Ethinyl Estradiol	Ethinyl Estradiol inhibits the reaction [IL1B protein results in increased expression of BCL3 mRNA]	12072388
D011345	Fenofibrate	Fenofibrate results in decreased expression of BCL3 mRNA	25596134
D017313	Fenretinide	Fenretinide results in increased expression of BCL3 mRNA	28973697
C007738	fluoranthene	[1-methylanthracene co-treated with fluoranthene] results in increased expression of BCL3 mRNA	28329830
C007738	fluoranthene	SB 203580 inhibits the reaction [[1-methylanthracene co-treated with fluoranthene] results in increased expression of BCL3 mRNA]	28329830
D005557	Formaldehyde	Formaldehyde results in decreased expression of BCL3 mRNA	20655997
C039281	furan	furan results in decreased expression of BCL3 mRNA	25539665
D005742	Gasoline	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of BCL3 mRNA	29432896
D005742	Gasoline	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of BCL3 mRNA	29432896
D019833	Genistein	Genistein inhibits the reaction [Oxygen deficiency results in increased expression of BCL3 mRNA]	23452621
D019833	Genistein	Genistein inhibits the reaction [IL1B protein results in increased expression of BCL3 mRNA]	12072388
D005839	Gentamicins	Gentamicins results in increased expression of BCL3 mRNA	22061828
D005897	Glafenine	Glafenine results in increased expression of BCL3 mRNA	24136188
D005978	Glutathione	Glutathione deficiency results in decreased expression of BCL3 mRNA	20621112
D017612	Gold Compounds	[Gold Compounds co-treated with TNF protein] results in increased expression of BCL3 mRNA	30096344
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of BCL3 mRNA	20044591
C013038	hydroxyhydroquinone	4-aminobenzhydrazide inhibits the reaction [hydroxyhydroquinone results in increased expression of BCL3 mRNA]	24530881
C013038	hydroxyhydroquinone	hydroxyhydroquinone results in increased expression of BCL3 mRNA	24530881
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of BCL3 mRNA	25613284
D007501	Iron	Iron deficiency results in increased expression of BCL3 mRNA	20368581
C561695	(+)-JQ1 compound	(+)-JQ1 compound inhibits the reaction [Lipopolysaccharides results in increased expression of BCL3 mRNA]	25725100
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of BCL3 mRNA	24796395; 25307878;
D007854	Lead	Lead affects the expression of BCL3 mRNA	28903495
D000077339	Leflunomide	Leflunomide results in increased expression of BCL3 mRNA	28988120
C433788	lipopolysaccharide, E. coli O26-B6	lipopolysaccharide, E. coli O26-B6 results in increased expression of BCL3 mRNA	23090859
C440499	lipopolysaccharide, Escherichia coli O111 B4	lipopolysaccharide, Escherichia coli O111 B4 results in increased expression of BCL3 mRNA	19264136
D008070	Lipopolysaccharides	(+)-JQ1 compound inhibits the reaction [Lipopolysaccharides results in increased expression of BCL3 mRNA]	25725100
D008070	Lipopolysaccharides	Lipopolysaccharides results in increased expression of BCL3 mRNA	25725100
D008070	Lipopolysaccharides	Lipopolysaccharides results in increased expression of BCL3 mRNA	25890327
D008070	Lipopolysaccharides	Lipopolysaccharides results in increased expression of BCL3 mRNA	25613284
D018021	Lithium Chloride	Lithium Chloride results in increased expression of BCL3 mRNA	23527032
D058185	Magnetite Nanoparticles	[Magnetite Nanoparticles co-treated with TNF protein] results in increased expression of BCL3 mRNA	30096344
D008610	Menthol	Menthol results in increased expression of BCL3 mRNA	26760959
D008727	Methotrexate	Methotrexate results in decreased expression of BCL3 mRNA	24449571
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of BCL3 mRNA	25554681; 25620056;
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of BCL3 mRNA	25554681; 25620056;
D009532	Nickel	Nickel results in increased expression of BCL3 mRNA	23195993; 24768652; 25583101;
C022838	nickel chloride	nickel chloride affects the expression of BCL3 mRNA	22546817
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of BCL3 mRNA	26251327
C572573	N-nitroso-tris-chloroethylurea	N-nitroso-tris-chloroethylurea results in increased mutagenesis of BCL3 gene	29484121
D010047	Ovalbumin	[Antigens, Bacterial co-treated with Ovalbumin] results in increased expression of BCL3 mRNA	29067999
D010047	Ovalbumin	MYD88 gene mutant form affects the reaction [[Antigens, Bacterial co-treated with Ovalbumin] results in increased expression of BCL3 mRNA]	29067999
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of BCL3 mRNA	25729387
D010100	Oxygen	3,5-bis(2-fluorobenzylidene)piperidin-4-one inhibits the reaction [Oxygen deficiency results in increased expression of BCL3 mRNA]	23452621
D010100	Oxygen	Curcumin inhibits the reaction [Oxygen deficiency results in increased expression of BCL3 mRNA]	23452621
D010100	Oxygen	Genistein inhibits the reaction [Oxygen deficiency results in increased expression of BCL3 mRNA]	23452621
D010100	Oxygen	Oxygen deficiency results in decreased expression of BCL3 mRNA	25596134
D010100	Oxygen	Oxygen deficiency results in increased expression of BCL3 mRNA	23452621
D010100	Oxygen	Plant Extracts inhibits the reaction [Oxygen deficiency results in increased expression of BCL3 mRNA]	23452621
D010100	Oxygen	Resveratrol inhibits the reaction [Oxygen deficiency results in increased expression of BCL3 mRNA]	23452621
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of BCL3 mRNA	30529165
D010126	Ozone	[NOTCH3 gene mutant form affects the susceptibility to Ozone] which affects the expression of BCL3 mRNA	25658374
D019308	Palmitic Acid	Palmitic Acid results in decreased phosphorylation of BCL3 protein	28073184
D052638	Particulate Matter	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of BCL3 mRNA	29432896
D052638	Particulate Matter	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of BCL3 mRNA	29432896
D052638	Particulate Matter	Particulate Matter results in increased expression of BCL3 mRNA	21703343
C568608	PCI 5002	[PCI 5002 co-treated with Zinc] results in increased expression of BCL3 mRNA	18593933
C006253	pirinixic acid	pirinixic acid results in decreased expression of BCL3 mRNA	17426115
C006253	pirinixic acid	pirinixic acid results in increased expression of BCL3 mRNA	18445702
D010936	Plant Extracts	Plant Extracts inhibits the reaction [Oxygen deficiency results in increased expression of BCL3 mRNA]	23452621
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of BCL3 mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of BCL3 mRNA	29432896
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of BCL3 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of BCL3 mRNA	22079256
D011374	Progesterone	Progesterone affects the expression of BCL3 mRNA	17251523
D011374	Progesterone	Progesterone results in increased expression of BCL3 mRNA	19690047
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of BCL3 mRNA	24780913; 25825206;
C031280	pyrazole	pyrazole results in increased expression of BCL3 mRNA	17945193
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride inhibits the reaction [IL1B protein results in increased expression of BCL3 mRNA]	12072388
D017382	Reactive Oxygen Species	Reactive Oxygen Species results in decreased expression of BCL3 mRNA	25800948
D000077185	Resveratrol	[Coumestrol co-treated with Resveratrol] results in decreased expression of BCL3 mRNA	19167446
D000077185	Resveratrol	Resveratrol inhibits the reaction [Oxygen deficiency results in increased expression of BCL3 mRNA]	23452621
D000077185	Resveratrol	[Resveratrol co-treated with Streptozocin] results in increased expression of BCL3 mRNA	25905778
D012402	Rotenone	Rotenone results in increased expression of BCL3 mRNA	28374803
C093642	SB 203580	SB 203580 inhibits the reaction [[1-methylanthracene co-treated with fluoranthene] results in increased expression of BCL3 mRNA]	28329830
D012643	Selenium	Selenium results in increased expression of BCL3 mRNA	19244175
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of BCL3 mRNA	25895662
D012822	Silicon Dioxide	Silicon Dioxide results in increased expression of BCL3 mRNA	23221170
D018030	Silver Compounds	[Silver Compounds co-treated with TNF protein] results in increased expression of BCL3 mRNA	30096344
C017947	sodium arsenite	sodium arsenite results in increased expression of BCL3 mRNA	29361514
C017947	sodium arsenite	MIR2909 mRNA affects the reaction [sodium arsenite results in increased expression of BCL3 protein]	23562784
C017947	sodium arsenite	sodium arsenite affects the localization of BCL3 protein	20420878
C017947	sodium arsenite	sodium arsenite promotes the reaction [NFKB2 protein binds to BCL3 protein]	20420878
C017947	sodium arsenite	sodium arsenite promotes the reaction [[NFKB2 protein binds to BCL3 protein] which results in increased expression of CCND1 protein]	20420878
C017947	sodium arsenite	sodium arsenite results in increased expression of BCL3 protein	20420878; 23562784;
C016104	sodium bichromate	sodium bichromate results in increased expression of BCL3 mRNA	25993096
D053260	Soot	Soot results in increased expression of BCL3 mRNA	22461453; 26551751;
D013311	Streptozocin	[Resveratrol co-treated with Streptozocin] results in increased expression of BCL3 mRNA	25905778
D016559	Tacrolimus	Tacrolimus results in increased expression of BCL3 mRNA	23958496
D013629	Tamoxifen	Tamoxifen affects the expression of BCL3 mRNA	20937368
D013739	Testosterone	Testosterone inhibits the reaction [Dexamethasone results in decreased expression of BCL3 mRNA]	20032058
C020806	tetrabromobisphenol A	tetrabromobisphenol A results in increased expression of BCL3 mRNA	22015988
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of BCL3 mRNA	12377990; 20106945; 21632981; 22903824;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of BCL3 mRNA	18684927; 24058054;
D013749	Tetrachlorodibenzodioxin	[TIPARP gene mutant form results in increased susceptibility to Tetrachlorodibenzodioxin] which results in decreased expression of BCL3 mRNA	25975270
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of BCL3 mRNA	22298810
D013750	Tetrachloroethylene	Tetrachloroethylene results in decreased expression of BCL3 mRNA	28973375
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of BCL3 mRNA	25613284
C009495	titanium dioxide	titanium dioxide results in decreased expression of BCL3 mRNA	29264374
C009495	titanium dioxide	titanium dioxide results in increased expression of BCL3 mRNA	27760801
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of BCL3 mRNA	20133372
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of BCL3 mRNA	25729387
D014212	Tretinoin	Tretinoin results in increased expression of BCL3 mRNA	17045167
D014212	Tretinoin	[bis(4-hydroxyphenyl)sulfone co-treated with Tretinoin] results in decreased expression of BCL3 mRNA	30951980
C011559	tributyltin	tributyltin results in increased expression of BCL3 mRNA	29505797
D014284	Triiodothyronine	Triiodothyronine results in increased expression of BCL3 mRNA	22015988
D014302	Trinitrobenzenesulfonic Acid	Curcumin inhibits the reaction [Trinitrobenzenesulfonic Acid results in increased expression of BCL3 mRNA]	18200517
D014302	Trinitrobenzenesulfonic Acid	Trinitrobenzenesulfonic Acid results in increased expression of BCL3 mRNA	18200517
C013320	tris(2-butoxyethyl) phosphate	tris(2-butoxyethyl) phosphate affects the expression of BCL3 mRNA	29024780
D014414	Tungsten	Tungsten results in decreased expression of BCL3 mRNA	30912803
D014415	Tunicamycin	Tunicamycin results in increased expression of BCL3 mRNA	17127020
D014520	Urethane	Urethane results in decreased expression of BCL3 mRNA	28818685
D014635	Valproic Acid	Valproic Acid results in decreased expression of BCL3 mRNA	29154799
D014635	Valproic Acid	Valproic Acid results in increased methylation of BCL3 gene	29154799
C029297	vinylidene chloride	vinylidene chloride results in increased expression of BCL3 mRNA	26682919
D000077337	Vorinostat	Vorinostat results in decreased expression of BCL3 mRNA	22083351
D015032	Zinc	[PCI 5002 co-treated with Zinc] results in increased expression of BCL3 mRNA	18593933

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0010	Activator
KW-0040	ANK repeat
KW-0160	Chromosomal rearrangement
KW-0963	Cytoplasm
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0656	Proto-oncogene
KW-1185	Reference proteome
KW-0677	Repeat
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0832	Ubl conjugation

Interpro

InterPro ID	InterPro Term
IPR002110	Ankyrin_rpt
IPR020683	Ankyrin_rpt-contain_dom
IPR036770	Ankyrin_rpt-contain_sf

PROSITE

PROSITE ID	PROSITE Term
PS50297	ANK_REP_REGION
PS50088	ANK_REPEAT

Pfam

Pfam ID	Pfam Term
PF12796	Ank_2

Gene: BCL3

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction