AutismKB 2.0

Annotation Detail for RB1CC1


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Basic Information Top
Gene Symbol:RB1CC1 ( CC1,FIP200 )
Gene Full Name: RB1-inducible coiled-coil 1
Band: 8q11.23
Quick LinksEntrez ID:9821; OMIM: 606837; Uniprot ID:RBCC1_HUMAN; ENSEMBL ID: ENSG00000023287; HGNC ID: 15574
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
200080mTOR signaling pathway
No data
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Related Diseases/Disorders Top
No data
Desease IDDesease Name
1740Alzheimer's disease
1848Embryoma
1944Breast cancer
No data
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Desease Name
Breast cancer, somatic
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of RB1CC1 mRNAincreases expression 18648102
D006710 Homocysteine Homocysteine results in decreased expression of RB1CC1 mRNAdecreases expression 17326132
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 RB1CC1 mRNAdecreases expression 20018196
D003010 Clorgyline Clorgyline results in increased expression of RB1CC1 mRNAincreases expression 19691856
D016572 Cyclosporine Cyclosporine results in increased expression of RB1CC1 mRNAincreases expression 20106945
D001728 Dicumarol Dicumarol inhibits the reaction [RB1CC1 protein results in increased expression of CDKN1A protein]decreases reaction|increases expression 16061648
D001728 Dicumarol Dicumarol inhibits the reaction [RB1CC1 protein results in increased expression of TP53 protein]decreases reaction|increases expression 16061648
D001728 Dicumarol Dicumarol inhibits the reaction [RB1CC1 protein results in increased stability of TP53 protein]decreases reaction|increases stability 16061648
C011890 kojic acid kojic acid results in decreased expression of RB1CC1 mRNAdecreases expression 16595896
D015735 Mifepristone Mifepristone results in increased expression of RB1CC1 mRNAincreases expression 17584828
D011374 Progesterone Progesterone results in increased expression of RB1CC1 mRNAincreases expression 18037150
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin affects the expression of RB1CC1 mRNAaffects expression 18691609
C025643 vinclozolin vinclozolin affects the expression of RB1CC1 mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0414514962 11752688 15322242
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.833712494
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.5716835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0811748828
MESH:D001008 Anxiety Disorders vinclozolin 3.7519015723
MESH:D001321 Autistic Disorder Homocysteine 3.0316297937 20468076
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.241440618 11289319
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.1812125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8515746008
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.5617868700
MESH:D001930 Brain Injuries Progesterone 4.4315665606 15845082 15380490
MESH:D001943 Breast Neoplasms marker/mechanism
MESH:D001943 Breast Neoplasms Progesterone 2.0416175315 17614352 15562024
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0420435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9116835633
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.767296757 3581430
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.737296757
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4416120746 18850075 18670907
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 11.697505956
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 11.6920889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 11.6912371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2916835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.2219486331 9022650
MESH:D002779 Cholestasis Cyclosporine 8.2219486331
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1515340226 15668235 8697196 12621046 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1817141729 14669216
MESH:D003324 Coronary Artery Disease Homocysteine 3.8016379339
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 15322242 20055451
MESH:D003456 Cryptorchidism vinclozolin 4.5014966744
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 2.978156756 2524372 11906362 14531868 12868966 11298694 8970840 18759878
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.643621924 2952479
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6917107852
MESH:D003929 Diabetic Neuropathies Progesterone 4.6717187935
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 3.811440618 18692083 11289319 9328219 16192314 6679447 8291058 9022650 18648102 18289764 6482804 7440962 9653073
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.8120420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8611462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1216714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 3.9417692515
MESH:D004715 Endometriosis Mifepristone 16.1216134523
MESH:D004715 Endometriosis Progesterone 16.1216134523
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 16.129294722 10568697
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 4.493581430
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.4920426865
MESH:D017889 Exfoliation Syndrome Homocysteine 5.8916504073
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1211564622
MESH:D005234 Fatty Liver Cyclosporine 2.9919224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6311858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.246705139
MESH:D005355 Fibrosis Cyclosporine 9.0712168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.0720067830
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.1316973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.5216417039
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.418708960
MESH:D005901 Glaucoma Homocysteine 5.4416504073
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.197505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8110696789
MESH:D006330 Heart Defects, Congenital Homocysteine 7.1719638421
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 7.1710048152 11294989
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.6215720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4811000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.676705139
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.0712621046 15340226 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.268697196 16354765 16959395 15340226 18606429
MESH:D020138 Hyperhomocysteinemia Homocysteine 4.8318234410 17292331 17369066
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.1115034207
MESH:D006973 Hypertension Cyclosporine 5.1010903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.1018850075 18670907
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.5815869954
MESH:D007248 Infertility, Male vinclozolin 3.1316467254
MESH:D007249 Inflammation Progesterone 5.2015869954
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.2012200463 12878042
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.248074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4816580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.6615604871
MESH:D007674 Kidney Diseases Cyclosporine 2.4118776723 10903974 8314463
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 7.666582329
MESH:D007680 Kidney Neoplasms Cyclosporine 7.6612371664
MESH:D007984 Leydig Cell Tumor vinclozolin 4.9316417039
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.289327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.7616984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 10.373712494 6587162 598648 1399818
MESH:D008114 Liver Neoplasms, Experimental kojic acid 10.3718544905
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.3712151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 2.9511408345 17203775
MESH:D008591 Meningomyelocele Homocysteine 5.7116602021
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.0116801185
MESH:D009203 Myocardial Infarction Homocysteine 3.7617412321
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1312213967
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.523581430
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.6617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4119348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3714600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.006679447
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.554026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.243988306
MESH:D010051 Ovarian Neoplasms Mifepristone 5.3316525653
MESH:D010051 Ovarian Neoplasms Progesterone 5.3317393432 16525653
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.667296757
MESH:D010300 Parkinson Disease Homocysteine 3.6216275827
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4712520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.696228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7218163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.3512371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.1411118676 11222880 11896295 11399792
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 10.1418220299 19015723 18042343
MESH:D011469 Prostatic Diseases vinclozolin 5.1318220299
MESH:D011471 Prostatic Neoplasms Clorgyline 4.2619691856
MESH:D011472 Prostatitis vinclozolin 5.1318629315
MESH:D011565 Psoriasis Cyclosporine 2.2716882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0018990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.483692021
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.9018045962
MESH:D012559 Schizophrenia Homocysteine 3.1216641680
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1016192470
MESH:D013119 Spinal Cord Injuries Progesterone 4.4715862959 16503802
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1212697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 2.996582329 7505956 3712494 6587162 1399818
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.328074119
MESH:D014605 Uveitis Cyclosporine 4.201336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8112125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4715886252
MESH:D014985 Xerophthalmia Cyclosporine 4.6617120751
No data
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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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