AutismKB 2.0

Annotation Detail for RBPJ


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Basic Information Top
Gene Symbol:RBPJ ( CBF1,IGKJRB,IGKJRB1,KBF2,MGC61669,RBP-J,RBPJK,RBPSUH,SUH,csl )
Gene Full Name: recombination signal binding protein for immunoglobulin kappa J region
Band: 4p15.2
Quick LinksEntrez ID:3516; OMIM: 147183; Uniprot ID:SUH_HUMAN; ENSEMBL ID: ENSG00000168214; HGNC ID: 5724
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04330Notch signaling pathway
Pathway IDPathway Name
Gene Expression
Pathway IDPathway Name
200013Notch signaling pathway
200196Notch-mediated HES/HEY network
200052Presenilin action in Notch and Wnt signaling
Pathway IDPathway Name
P00005Angiogenesis
P00004Alzheimer disease-presenilin pathway
P00045Notch signaling pathway
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2007Liver tumor
2022Liver cancer
2132Kaposi sarcoma
2152Renal tubular acidosis
No data
Desease Name
Rheumatoid arthritis
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
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 RBPJ mRNAdecreases expression 19150397
D005472 Fluorouracil [Fluorouracil co-treated with irinotecan] results in decreased expression of RBPJ mRNAaffects cotreatment|decreases expression 16391804
C051890 irinotecan [Fluorouracil co-treated with irinotecan] results in decreased expression of RBPJ mRNAaffects cotreatment|decreases expression 16391804
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma Fluorouracil 2.5017638652
MESH:D000740 Anemia Fluorouracil 4.1617963324 15504547 16511603
MESH:D001172 Arthritis, Rheumatoid marker/mechanism 20453842
MESH:D001943 Breast Neoplasms Fluorouracil 2.4319217205 16557594 15136595 18608205 18357371 16595493 16110121
MESH:D002276 Carcinoid Tumor Fluorouracil 5.5316051944
MESH:D002277 Carcinoma Fluorouracil 3.9317121937
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 2.1216799960 17971768 17045692 18930000 16332177 17088986
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.1818695887
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 2.5816757204 16280240 17066447 18986760
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 3.0120889678
MESH:D003110 Colonic Neoplasms Fluorouracil 4.1717287894 17725105 17018589 16340194 17169374 16510598 18772588 15001691 17172411 17016597
MESH:D003110 Colonic Neoplasms irinotecan 4.1717725105 17287894
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.8118288408 17695437 18949393 18509181 16391804 14970324 18448328 20501625 17255274 17454858 16282729 18802399 17016601 16331619 17094418 16524972 17594712 16303861 18383874 15289873 15148649 17401013
MESH:D015179 Colorectal Neoplasms irinotecan 2.8115273666 18259882 16391804 17159606 16303861 18509181 17454858
MESH:D007644 Darier Disease Fluorouracil 5.5316733453
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.8020426865
MESH:D004938 Esophageal Neoplasms Fluorouracil 4.8015173087 16481741 16785472 16337965 17638652
MESH:D005910 Glioma Fluorouracil 3.0016145905
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.6718337622 15162350 15102660
MESH:D007680 Kidney Neoplasms Fluorouracil 3.6916985049
MESH:D008113 Liver Neoplasms Fluorouracil 2.6116603448 15113037 18383874 17045692
MESH:D008175 Lung Neoplasms Fluorouracil 2.0115246190
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 5.5315086387
MESH:D009062 Mouth Neoplasms Fluorouracil 3.9816757204 18986760
MESH:D052016 Mucositis irinotecan 5.7517159606
MESH:D009362 Neoplasm Metastasis irinotecan 3.3118259882
MESH:D009369 Neoplasms Fluorouracil 2.7918600527 16928823 18239605
MESH:D009447 Neuroblastoma irinotecan 3.678761367
MESH:D017599 Neuroectodermal Tumors irinotecan 5.478761367
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.7216436463
MESH:D010190 Pancreatic Neoplasms Fluorouracil 2.7819003803 16929163 15113037 16500647
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.3419082440 18626508
MESH:D012004 Rectal Neoplasms Fluorouracil 4.4318722050 18286688 16160472 15538739
MESH:D013274 Stomach Neoplasms Fluorouracil 2.7918567086 17522103 19015929 16424979 17172411 15786421 18396642 17498489 16951190 19084572
MESH:D013274 Stomach Neoplasms irinotecan 2.7915723263
MESH:D014062 Tongue Neoplasms Fluorouracil 4.4416280240
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 4.3316803524
Pathway ID Pathway Name
REACT:71 Gene Expression
KEGG:04330 Notch signaling pathway
Pharmacogenomics Knowledge Base Top
Drug Bank Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018