AutismKB 2.0

Annotation Detail for C4BPB


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Basic Information Top
Gene Symbol:C4BPB ( C4BP )
Gene Full Name: complement component 4 binding protein, beta
Band: 1q32.1
Quick LinksEntrez ID:725; OMIM: 120831; Uniprot ID:C4BPB_HUMAN; ENSEMBL ID: ENSG00000123843; HGNC ID: 1328
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04610Complement and coagulation cascades
No data
Pathway IDPathway Name
200194FOXA1 transcription factor network
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Immune system diseases
Primary immunodeficiency
H00106Complement regulatory protein defects
No data
Desease Name
HEMATOLOGICAL
plasma C4b binding protein levels
Desease Name
Plasma C4b binding protein levels
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of C4BPB proteinaffects expression 20106945
D000643 Ammonium Chloride Ammonium Chloride affects the expression of C4BPB mRNAaffects expression 16483693
D016572 Cyclosporine Cyclosporine results in decreased expression of C4BPB mRNAdecreases expression 20106945
D004052 Diethylnitrosamine Diethylnitrosamine results in decreased expression of C4BPB mRNAdecreases expression 19638242
D004958 Estradiol Estradiol results in decreased expression of C4BPB mRNAdecreases expression 20106945
D004997 Ethinyl Estradiol [Ethinyl Estradiol co-treated with Levonorgestrel] results in decreased expression of C4BPB proteinaffects cotreatment|decreases expression 14551147
D004997 Ethinyl Estradiol F5 gene polymorphism inhibits the reaction [[Ethinyl Estradiol co-treated with Levonorgestrel] results in decreased expression of C4BPB protein]affects cotreatment|decreases expression|decreases reaction 14551147
C442659 ethinyl estradiol-desogestrel combination ethinyl estradiol-desogestrel combination results in decreased expression of C4BPB proteindecreases expression 14551147
C442659 ethinyl estradiol-desogestrel combination F5 gene polymorphism promotes the reaction [ethinyl estradiol-desogestrel combination results in decreased expression of C4BPB protein]decreases expression|increases reaction 14551147
D005419 Flavonoids Flavonoids results in increased expression of C4BPB mRNAincreases expression 18035473
D005472 Fluorouracil Fluorouracil affects the expression of C4BPB mRNAaffects expression 16584549
D016912 Levonorgestrel [Ethinyl Estradiol co-treated with Levonorgestrel] results in decreased expression of C4BPB proteinaffects cotreatment|decreases expression 14551147
D016912 Levonorgestrel F5 gene polymorphism inhibits the reaction [[Ethinyl Estradiol co-treated with Levonorgestrel] results in decreased expression of C4BPB protein]affects cotreatment|decreases expression|decreases reaction 14551147
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.8018287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2117505938
MESH:D000230 Adenocarcinoma Estradiol 7.2911473722
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 7.2914692618
MESH:D000230 Adenocarcinoma Fluorouracil 7.2917638652
MESH:D000236 Adenoma Diethylnitrosamine 2.946695378 10737359
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 4.1416434500 19061943 17162532 17620307 18056438 19052882
MESH:D000740 Anemia Fluorouracil 3.8717963324 15504547 16511603
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7615885639
MESH:D001943 Breast Neoplasms Diethylnitrosamine 1.9217474063
MESH:D001943 Breast Neoplasms Estradiol 1.9212948864 18497071 16675129 14630087 17289903 17018787 17261762 19861407
MESH:D001943 Breast Neoplasms Fluorouracil 1.9216595493 18357371 16557594 16110121 19217205 18608205 15136595
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.7016111702
MESH:D002276 Carcinoid Tumor Fluorouracil 4.9316051944
MESH:D002277 Carcinoma Fluorouracil 3.7017121937
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 6.7912907637 12619106 21507988
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 6.7910672840 18785209 19383236 16807293 19919837 20084675 16502159 20524982 18788625 19394651 18665156 18393292 17055752 19171122 20514400 17978847 17761372 19539802 16681979 17173139 17162532 17138121 20512989 19701751 16878318 16288022 20432363 11831363 19208518 18506893 16328049 17428255 18971187 19519916 10737359 20935162 18494052 16540662 20727157 16830150 16935385 20007298 3084413 16698587 19052882 20101231 18210153 21159647 16569478 19335982 20214788 3581430 19418558 16779866 18056438 18978308 18691550 19822196 19107877
MESH:D006528 Carcinoma, Hepatocellular Estradiol 6.7916924424
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 6.7916799960 17971768 16332177 17045692 18930000 17088986
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.0918695887
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 2.5316280240 16757204 18986760 17066447
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 11.8312371664
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 11.8317174075 2727394 21159647 7505956
MESH:D002471 Cell Transformation, Neoplastic Estradiol 11.8318566989
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 3.8419052882
MESH:D002779 Cholestasis Cyclosporine 14.3819486331
MESH:D002779 Cholestasis Ethinyl Estradiol 14.3815861022 17681005 16105132 11677210 16919318 17110522 17333356
MESH:D002779 Cholestasis Levonorgestrel 14.3815861022
MESH:D003110 Colonic Neoplasms Fluorouracil 2.2617169374 18772588 17018589 16510598 17172411 15001691 16340194 17725105 17287894 17016597
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.0014970324 17695437 17016601 16524972 15289873 18802399 16391804 18383874 18448328 16282729 17594712 20501625 17255274 17401013 16303861 18949393 15148649 17094418 18288408 17454858 16331619 18509181
MESH:D007644 Darier Disease Fluorouracil 5.0316733453
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 2.2220387270
MESH:D003928 Diabetic Nephropathies Estradiol 3.5619279558
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 2.1019107877
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.3812538720
MESH:D016889 Endometrial Neoplasms Estradiol 3.0919148513 18566989 11473722
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.3816302075
MESH:D004938 Esophageal Neoplasms Fluorouracil 2.4817638652 16785472 15173087 16481741 16337965
MESH:D005234 Fatty Liver Cyclosporine 14.0819224547
MESH:D005234 Fatty Liver Diethylnitrosamine 14.0821071580 20387270
MESH:D005234 Fatty Liver Ethinyl Estradiol 14.0815345470
MESH:D005355 Fibrosis Cyclosporine 3.3612168785 12639820
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.468708960
MESH:D005910 Glioma Fluorouracil 2.9316145905
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.5018337622 15102660 15162350
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.6615720958
MESH:D006558 Herpes Genitalis Estradiol 5.3015709030
MESH:D019584 Hot Flashes Estradiol 4.0217088409
MESH:D006973 Hypertension Cyclosporine 2.1510903974
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0216569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6512013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5917937319
MESH:D007249 Inflammation Diethylnitrosamine 5.4618785209
MESH:D007249 Inflammation Flavonoids 5.4617296493
MESH:D007333 Insulin Resistance Estradiol 3.0716393666 16627594
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7115604871
MESH:D007674 Kidney Diseases Cyclosporine 6.248314463 10903974 18776723
MESH:D007674 Kidney Diseases Estradiol 6.2415618244
MESH:D007680 Kidney Neoplasms Cyclosporine 13.2712371664
MESH:D007680 Kidney Neoplasms Estradiol 13.2715610895
MESH:D007680 Kidney Neoplasms Fluorouracil 13.2716985049
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.9119638242 18522880 18407596 20032147 18665156
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 1.6814659978 14716833
MESH:D008107 Liver Diseases Diethylnitrosamine 2.1317034775
MESH:D008113 Liver Neoplasms Aflatoxin B1 7.8518177683 2125692 15890375 9163691
MESH:D008113 Liver Neoplasms Diethylnitrosamine 7.8519996281 15175105 19255062 18977376 19256749 20434301 20583210 18754104 19427195 19812893 21047994 18644402 19073162 20118626 16942905 2422723 2862719 20501860 19642983 18648771 21167192 19551842 21071580 19254457 19833225 15885732 19638242 18978307 12112319 19090486 20137499 19294768 10737359 20101389 19690152 19850985 9163691 19499222 19426721 20405173 20452335 21278145 20492335 12771043
MESH:D008113 Liver Neoplasms Fluorouracil 7.8517045692 15113037 16603448 18383874
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 6.348603461
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 6.3419519916 2563599 18282651 19004024 18093689 19539802 3124819 16267830 16842330 21159647 19126423 18544905 9362446 18775883 18308698 17854601 18253720 19009564 17942915 17174075 18164116 18079962
MESH:D008175 Lung Neoplasms Aflatoxin B1 3.5814755239
MESH:D008175 Lung Neoplasms Diethylnitrosamine 3.5821163286 20970405 20512841 6695378
MESH:D008175 Lung Neoplasms Fluorouracil 3.5815246190
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 5.0315086387
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.6611408345 17203775 16891317 11807958
MESH:D020149 Manganese Poisoning Estradiol 4.7519453300
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.0516801185
MESH:D009062 Mouth Neoplasms Fluorouracil 3.7616757204 18986760
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.4116810080
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.623581430 9029167
MESH:D009369 Neoplasms Fluorouracil 2.6818239605 18600527 16928823
MESH:D009389 Neovascularization, Pathologic Estradiol 3.9717289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4419348381 18481113
MESH:D009421 Nervous System Malformations Estradiol 3.8511399458 16427766
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 3.4820387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.3820387270
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.5516436463
MESH:D010024 Osteoporosis Levonorgestrel 4.7612665316
MESH:D010051 Ovarian Neoplasms Estradiol 2.2619401270
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 5.5016540662
MESH:D010190 Pancreatic Neoplasms Fluorouracil 5.5015113037 16929163 19003803 16500647
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8711578682
MESH:D011085 Polycystic Ovary Syndrome ethinyl estradiol-desogestrel combination 5.7717105841
MESH:D011230 Precancerous Conditions Cyclosporine 9.4612371664
MESH:D011230 Precancerous Conditions Diethylnitrosamine 9.462563599
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.0620887781
MESH:D011471 Prostatic Neoplasms Estradiol 3.2316740699
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.2319082440 18626508
MESH:D011537 Pruritus Ethinyl Estradiol 10.8115861022 16919318
MESH:D011537 Pruritus Levonorgestrel 10.8115861022
MESH:D011565 Psoriasis Cyclosporine 2.2816882103
MESH:D012004 Rectal Neoplasms Fluorouracil 4.1616160472 18722050 18286688 15538739
MESH:D013088 Spermatocele Ethinyl Estradiol 4.2116709447
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 2.5318456281
MESH:D013274 Stomach Neoplasms Fluorouracil 2.5316951190 18396642 18567086 17498489 19084572 16424979 19015929 17172411 15786421 17522103
MESH:D019851 Thrombophilia Ethinyl Estradiol 11.7311994571
MESH:D019851 Thrombophilia ethinyl estradiol-desogestrel combination 11.7311994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3015669648
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.117505956
MESH:D013978 Tibial Fractures Estradiol 4.9519048282
MESH:D014062 Tongue Neoplasms Fluorouracil 4.1516280240
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 4.0416803524
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5014692618
MESH:D014605 Uveitis Cyclosporine 4.251336536
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 18.9715869587 14671159
MESH:D020246 Venous Thrombosis ethinyl estradiol-desogestrel combination 18.9715869587
MESH:D020246 Venous Thrombosis Levonorgestrel 18.9715869587
MESH:D014985 Xerophthalmia Cyclosporine 4.7117120751
Pathway ID Pathway Name
KEGG:04610 Complement and coagulation cascades
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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


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