AutismKB 2.0

Annotation Detail for PITPNC1


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Basic Information Top
Gene Symbol:PITPNC1 ( RDGB-BETA,RDGBB,RDGBB1 )
Gene Full Name: phosphatidylinositol transfer protein, cytoplasmic 1
Band: 17q24.3
Quick LinksEntrez ID:26207; OMIM: 605134; Uniprot ID:PITC1_HUMAN; ENSEMBL ID: ENSG00000154217; HGNC ID: 21045
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in increased expression of PITPNC1 mRNAincreases expression 19933214
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of PITPNC1 proteinaffects expression 20106945
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of PITPNC1 mRNAdecreases expression 20064835
20106945
D004317 Doxorubicin PITPNC1 protein affects the susceptibility to Doxorubicinaffects response to substance 16217747
C023036 perfluorooctanoic acid perfluorooctanoic acid results in decreased expression of PITPNC1 mRNAdecreases expression 17681415
D020849 Raloxifene [Raloxifene co-treated with ESR2 protein] results in decreased expression of PITPNC1 mRNAaffects cotreatment|decreases expression 19059307
D013629 Tamoxifen [Tamoxifen co-treated with ESR2 protein] results in decreased expression of PITPNC1 mRNAaffects cotreatment|decreases expression 19059307
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of PITPNC1 mRNAincreases expression 19933214
D014028 Tobacco Smoke Pollution Tobacco Smoke Pollution results in increased expression of PITPNC1 mRNAincreases expression 18087596
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.8714745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1315322242 11752688 14514962
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.6020127859 20464547
MESH:D000230 Adenocarcinoma Doxorubicin 4.6017418594
MESH:D002282 Adenocarcinoma, Bronchiolo-Alveolar Tobacco Smoke Pollution 5.8515814487
MESH:D000236 Adenoma Benzo(a)pyrene 2.766695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.6616835633
MESH:D000419 Albuminuria Doxorubicin 12.2721441931
MESH:D000419 Albuminuria Raloxifene 12.2717308373 17451421
MESH:D000544 Alzheimer Disease Raloxifene 2.5815800139
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1411748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.3319183758
MESH:D001172 Arthritis, Rheumatoid Tobacco Smoke Pollution 3.2219898480
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.2512125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8915746008
MESH:D019046 Bone Marrow Neoplasms Doxorubicin 5.0214601052
MESH:D001930 Brain Injuries Raloxifene 4.7316580743
MESH:D001932 Brain Neoplasms Doxorubicin 4.0017150277
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.3920146248 17474063
MESH:D001943 Breast Neoplasms Doxorubicin 2.3916322301 19526202 15993339 16096432 16826403 18628466 17426702 16115903 16935488 18695136 15692762 17369602 15939500 11325840 15567936 17983394 15634643 15136595 15994142 18382427 16264153 15668708 16595493 18234424
MESH:D001943 Breast Neoplasms Raloxifene 2.3915758505 17242785 15572757 16837676 16912660 17049068 17893378 17595753 15775269 17952589 17261762 17440819
MESH:D001943 Breast Neoplasms Tamoxifen 2.3916873071 19115204 21152245 18351453 19200415 18855134 20065188 19289846 19487384 15668708 19410462 18815881 20390343 19189210 17440819 18984771 19244106 20005174 19288272 19142967 19011961 18629630 19059307 18425577 18997820 19221464 21138602 19155303 17049068 20135344 20859285 15565566 17242785 17893378 18821012 16202921 17261762 19189212 16818667 20544844 19103187 11161223 19066611 16273361 19084267
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.3920435547
MESH:D002276 Carcinoid Tumor Doxorubicin 5.1316051944
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9616835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.7619066611
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 4.8121507988 12619106 12907637
MESH:D006528 Carcinoma, Hepatocellular Doxorubicin 4.8116234567 18059187 16023760 17876044
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 4.8116924424
MESH:D002289 Carcinoma, Non-Small-Cell Lung Tobacco Smoke Pollution 3.4811212258
MESH:D002292 Carcinoma, Renal Cell Doxorubicin 3.2416201981 1485588
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 7.9720419170
MESH:D002294 Carcinoma, Squamous Cell Doxorubicin 7.976189445
MESH:D002294 Carcinoma, Squamous Cell Tobacco Smoke Pollution 7.9711212258
MESH:D002295 Carcinoma, Transitional Cell Raloxifene 10.1517572228
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 10.1517572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4716120746 18670907 18850075
MESH:D009202 Cardiomyopathies Doxorubicin 3.6616731534 17131338 16242529 17329180 17924179 17007740 16952015 16455267 15792986 16364871 17928571 15505089 15811867 15476868 16278810 17308081 17382496 17351982 17974986 16109756 16612575 18627295 16269455 16651473 17519947
MESH:D002311 Cardiomyopathy, Dilated Doxorubicin 3.0017334414 16243910
MESH:D002318 Cardiovascular Diseases Raloxifene 3.5815775269
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3416835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1815668235 12621046 8697196 15340226 16354765
MESH:D003072 Cognition Disorders Raloxifene 4.8815800139
MESH:D015179 Colorectal Neoplasms Doxorubicin 2.1418259882 18802399
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2417141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 20055451 15322242
MESH:D003711 Demyelinating Diseases Tamoxifen 4.6219031437
MESH:D003865 Depressive Disorder, Major Raloxifene 4.3417474826
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D003928 Diabetic Nephropathies Raloxifene 9.6517451421 17308373 15920148
MESH:D003928 Diabetic Nephropathies Tamoxifen 9.6519279558
MESH:D056486 Drug-Induced Liver Injury Doxorubicin 4.0417416283
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 4.0420420201
MESH:D004362 Drug Toxicity Doxorubicin 8.6118602426
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 8.6111462148
MESH:D004487 Edema perfluorooctanoic acid 12.8017259670 12083418
MESH:D004487 Edema Raloxifene 12.8015860553
MESH:D004487 Edema Tetrachlorodibenzodioxin 12.8012711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2215322242 16714409 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Raloxifene 10.0515845917
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 10.0519031437
MESH:D016889 Endometrial Neoplasms Doxorubicin 7.9917359293
MESH:D016889 Endometrial Neoplasms Tamoxifen 7.9919155303 17893378 16202921 20544844
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.219294722 10568697
MESH:D004719 Endomyocardial Fibrosis Doxorubicin 5.4718037988
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0516530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1611564622
MESH:D005234 Fatty Liver Raloxifene 8.6817473493
MESH:D005234 Fatty Liver Tamoxifen 8.6819224547 14986274
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3516709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7111858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.8114745880
MESH:D018222 Fibromatosis, Aggressive Doxorubicin 12.4119069698
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 12.4119069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.2120067830
MESH:D005909 Glioblastoma Doxorubicin 3.4717150277
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9110696789
MESH:D006258 Head and Neck Neoplasms Doxorubicin 3.6615692506
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.7720471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.7711294989 10048152
MESH:D006331 Heart Diseases Doxorubicin 8.3016244371 16879835 18674790 16244372 17875725 14766674 16707910 12587719 17888722 16144979 16330681 16495754 18006777
MESH:D006331 Heart Diseases Raloxifene 8.3011110106
MESH:D006333 Heart Failure Doxorubicin 3.4617481944
MESH:D006394 Hemangiosarcoma Doxorubicin 4.1115692506
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5411000095
MESH:D006529 Hepatomegaly perfluorooctanoic acid 9.543609246
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.5412621046 16120746 15340226
MESH:D006689 Hodgkin Disease Doxorubicin 3.5918501091 15147373 17606976
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.3618606429 15340226 16354765 16959395 8697196
MESH:D006930 Hyperalgesia perfluorooctanoic acid 4.0112083418
MESH:D006973 Hypertension Raloxifene 5.4517577099 15787275
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.4518850075 18670907
MESH:D007249 Inflammation perfluorooctanoic acid 12.8512083418
MESH:D007249 Inflammation Tamoxifen 12.8519457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 12.8512200463 12878042
MESH:D007249 Inflammation Tobacco Smoke Pollution 12.8518590791
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5416580747
MESH:D007674 Kidney Diseases Doxorubicin 3.1616775033 15369732 15699352
MESH:D007676 Kidney Failure, Chronic Doxorubicin 4.3616707910
MESH:D007680 Kidney Neoplasms Tamoxifen 3.2118625569
MESH:D007889 Leiomyoma Raloxifene 4.7216973256
MESH:D004915 Leukemia, Erythroblastic, Acute Doxorubicin 5.4716085563
MESH:D007984 Leydig Cell Tumor perfluorooctanoic acid 5.518812269
MESH:D008064 Lipidoses Tamoxifen 3.3017567588 15342952
MESH:D008106 Liver Cirrhosis, Experimental Doxorubicin 3.6016439617 16595196
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 3.6018564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.6012878042
MESH:D008113 Liver Neoplasms Aflatoxin B1 14.999163691 18177683 15890375 2125692
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 14.9921137059 20195826
MESH:D008113 Liver Neoplasms perfluorooctanoic acid 14.9918709148 14757943
MESH:D008113 Liver Neoplasms Tamoxifen 14.9916684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 14.9916984957
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 10.588603461
MESH:D008114 Liver Neoplasms, Experimental Doxorubicin 10.5817085340 16842330
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.5812151625
MESH:D008175 Lung Neoplasms Aflatoxin B1 8.8414755239
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 8.8418816296 18520028 20464547 20064080 18569708 20135361 17053015 6695378 20869020
MESH:D008175 Lung Neoplasms Doxorubicin 8.8417418594 6189445
MESH:D008175 Lung Neoplasms Tamoxifen 8.8418625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 8.8419555203 11884234
MESH:D008175 Lung Neoplasms Tobacco Smoke Pollution 8.8412111688 11091918 3440675 16288123
MESH:D008223 Lymphoma Doxorubicin 3.6016098063
MESH:D008228 Lymphoma, Non-Hodgkin Doxorubicin 3.9617654614
MESH:D016399 Lymphoma, T-Cell Doxorubicin 4.8315621674
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.0419428831
MESH:D008325 Mammary Neoplasms, Experimental Doxorubicin 6.5615458769
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 6.5619196722 19196723 14580682 16827153 11731420
MESH:D020149 Manganese Poisoning Tamoxifen 4.8719453300
MESH:D008545 Melanoma Doxorubicin 3.5116827129
MESH:D008545 Melanoma Tamoxifen 3.5112393984 19393235
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.4715990972
MESH:D008654 Mesothelioma Doxorubicin 3.1317638057
MESH:D028361 Mitochondrial Diseases Doxorubicin 4.7015792986
MESH:D018200 Mixed Tumor, Mullerian Raloxifene 5.8715863610
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 9.3216381670
MESH:D009062 Mouth Neoplasms Tobacco Smoke Pollution 9.3215006635
MESH:D052016 Mucositis Doxorubicin 5.0817415656
MESH:D009101 Multiple Myeloma Raloxifene 3.5816497877
MESH:D009203 Myocardial Infarction Doxorubicin 3.0215857846 19429709
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1812213967
MESH:D009232 Myxoma Raloxifene 5.8716343187
MESH:D009362 Neoplasm Metastasis Doxorubicin 6.1118259882
MESH:D009362 Neoplasm Metastasis Tamoxifen 6.1119393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5719410462
MESH:D009369 Neoplasms Benzo(a)pyrene 2.2511141357
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.3219189210 19200415 19196722
MESH:D009401 Nephrosis Doxorubicin 5.0316899518 16636307
MESH:D009404 Nephrotic Syndrome Doxorubicin 4.1816889571 15640375
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4514600291
MESH:D009447 Neuroblastoma Doxorubicin 3.3615555623
MESH:D052556 Niemann-Pick Disease, Type C perfluorooctanoic acid 5.219802331
MESH:D010024 Osteoporosis Raloxifene 3.5115775268 19059307 17882678
MESH:D015663 Osteoporosis, Postmenopausal Raloxifene 4.4515758505 15579764 17893378 17823083
MESH:D012516 Osteosarcoma Doxorubicin 4.2815930896
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5712520081
MESH:D003557 Phyllodes Tumor Doxorubicin 5.4717983394
MESH:D010997 Pleural Neoplasms Doxorubicin 5.4717638057
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8018163543
MESH:D011297 Prenatal Exposure Delayed Effects perfluorooctanoic acid 10.6417132714
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.6411896295 11399792 11222880 11118676
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.0617292933
MESH:D011471 Prostatic Neoplasms Doxorubicin 2.0616888761 15897917 16729912 18437689 16868541 15749863
MESH:D011471 Prostatic Neoplasms Raloxifene 2.0616220300 15731164 16536755
MESH:D011471 Prostatic Neoplasms Tamoxifen 2.0615067354
MESH:D011693 Purpura Raloxifene 5.8715770314
MESH:D051437 Renal Insufficiency Doxorubicin 4.4817922066
MESH:D012135 Respiratory Sounds Tobacco Smoke Pollution 4.8818410779
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0818990726
MESH:D012509 Sarcoma Doxorubicin 4.1818313854 15625365 17203757 16767912 15675481 17710206
MESH:D012512 Sarcoma, Ewing's Doxorubicin 4.4816326096 14601052
MESH:D012514 Sarcoma, Kaposi Doxorubicin 5.0817846226
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 14.3319755658 10029692
MESH:D012878 Skin Neoplasms Doxorubicin 14.3315692506
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 14.3316192470
MESH:D012878 Skin Neoplasms Tobacco Smoke Pollution 14.3318590791
MESH:D012983 Soft Tissue Neoplasms Doxorubicin 4.8315625365 17203757 16767912
MESH:D013088 Spermatocele Tamoxifen 4.6116709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.3219457130
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.5620155912 2093021
MESH:D020521 Stroke Raloxifene 3.9816837676
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2212697716
MESH:D013964 Thyroid Neoplasms Doxorubicin 3.5216010429 17909728
MESH:D013978 Tibial Fractures Raloxifene 5.5319048282
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 16.6017053015
MESH:D001749 Urinary Bladder Neoplasms Doxorubicin 16.6017653716
MESH:D001749 Urinary Bladder Neoplasms Raloxifene 16.6017572228
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 16.608653321 17572228 16712894
MESH:D001749 Urinary Bladder Neoplasms Tobacco Smoke Pollution 16.6012846360
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9112125929
MESH:D054556 Venous Thromboembolism Raloxifene 5.5316837676
MESH:D018487 Ventricular Dysfunction, Left Doxorubicin 4.4817678736 17334414 16364871 17638931
MESH:D014846 Vulvar Neoplasms Raloxifene 5.8716343187
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5715886252
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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