Gene table of RBPJ : recombination signal binding protein for immunoglobulin kappa J region

Gene-disease associations table

Disease ID	Disease name	Source of annotation with RBPJ	OMIM link	Number of associated genes	genes
PS100300	ADAMS-OLIVER SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	6	NOTCH1, DLL4, EOGT, DOCK6, RBPJ, ARHGAP31

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Annotation of the gene RBPJ

Associated genes in ENSEMBL

ENSG00000168214

Associated proteins - SwissProt Accession ID

Q06330

Associated PDB IDs

Cytogenetic Band

4p15.2

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Notch signaling pathway	hsa04330	7.12
Epstein-Barr virus infection	hsa05169	4.97
Viral carcinogenesis	hsa05203	5.08

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Pre-NOTCH Transcription and Translation	R-HSA-1912408	8.12
Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells	R-HSA-210744	10.18
Signaling by NOTCH1	R-HSA-1980143	6.81
Signaling by NOTCH2	R-HSA-1980145	7.98
Diseases of signal transduction	R-HSA-5663202	4.89
Generic Transcription Pathway	R-HSA-212436	3.86
Gene Expression	R-HSA-74160	2.72
Signaling by NOTCH1 in Cancer	R-HSA-2644603	7.15
Signaling by NOTCH1 PEST Domain Mutants in Cancer	R-HSA-2644602	7.15
Notch-HLH transcription pathway	R-HSA-350054	9.28
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer	R-HSA-2894858	7.15
NOTCH1 Intracellular Domain Regulates Transcription	R-HSA-2122947	7.43
Developmental Biology	R-HSA-1266738	3.48
Signaling by NOTCH	R-HSA-157118	6.2
Signal Transduction	R-HSA-162582	1.78
NOTCH2 intracellular domain regulates transcription	R-HSA-2197563	9.4
Constitutive Signaling by NOTCH1 PEST Domain Mutants	R-HSA-2644606	7.15
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants	R-HSA-2894862	7.15
Pre-NOTCH Expression and Processing	R-HSA-1912422	7.49
Disease	R-HSA-1643685	3.33
Regulation of beta-cell development	R-HSA-186712	7.98

Associated GO terms for Molecular function

GO term	GO ID	GO IC
RNA polymerase II repressing transcription factor binding	GO:0001103	6.44
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
core promoter proximal region DNA binding	GO:0001159	3.82
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0001077	4.31
macromolecular complex binding	GO:0044877	2.61
nucleic acid binding transcription factor activity	GO:0001071	2.65
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
heterocyclic compound binding	GO:1901363	1.06
repressing transcription factor binding	GO:0070491	5.71
sequence-specific DNA binding	GO:0043565	2.79
sequence-specific double-stranded DNA binding	GO:1990837	3.2
core promoter proximal region sequence-specific DNA binding	GO:0000987	3.83
double-stranded DNA binding	GO:0003690	3.09
transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0000982	3.94
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
transcription factor binding	GO:0008134	3.46
regulatory region nucleic acid binding	GO:0001067	3.03
catalytic activity	GO:0003824	1.05
core promoter binding	GO:0001047	4.71
core promoter sequence-specific DNA binding	GO:0001046	5.12
RNA polymerase II transcription factor binding	GO:0001085	5.08
transcription regulatory region DNA binding	GO:0044212	3.03
RNA polymerase II core promoter sequence-specific DNA binding	GO:0000979	5.77
protein N-terminus binding	GO:0047485	5.11
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
recombinase activity	GO:0000150	7.66
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	GO:0001228	3.98
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
RNA polymerase II regulatory region sequence-specific DNA binding	GO:0000977	3.37
protein binding	GO:0005515	0.46
regulatory region DNA binding	GO:0000975	3.03
RNA polymerase II core promoter proximal region sequence-specific DNA binding	GO:0000978	3.88
chromatin binding	GO:0003682	3.64
binding	GO:0005488	0.18