AutismKB 2.0

Annotation Detail for ERC1


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Basic Information Top
Gene Symbol:ERC1 ( Cast2,ELKS,FLJ31750,KIAA1081,MGC12974,RAB6IP2 )
Gene Full Name: ELKS/RAB6-interacting/CAST family member 1
Band: 12p13.33
Quick LinksEntrez ID:23085; OMIM: 607127; Uniprot ID:RB6I2_HUMAN; ENSEMBL ID: ENSG00000082805; HGNC ID: 17072
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
200075IL1-mediated signaling events
200026Canonical NF-kappaB pathway
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of ERC1 mRNAaffects expression 16483693
D001104 Arbutin Arbutin results in increased expression of ERC1 mRNAincreases expression 17103032
C006632 arsenic trioxide arsenic trioxide results in decreased expression of ERC1 mRNAdecreases expression 20458559
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of ERC1 mRNAdecreases expression 20064835
20106945
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 ERC1 mRNAdecreases expression 20382639
20018196
D004052 Diethylnitrosamine Diethylnitrosamine results in increased expression of ERC1 mRNAincreases expression 20360939
C051890 irinotecan irinotecan analog results in decreased expression of ERC1 mRNAdecreases expression 18927307
C006253 pirinixic acid pirinixic acid results in increased expression of ERC1 mRNAincreases expression 18301758
C004648 testosterone enanthate testosterone enanthate affects the expression of ERC1 mRNAaffects expression 17440010
D014635 Valproic Acid Valproic Acid results in increased expression of ERC1 mRNAincreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 3.728875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.1019490988
MESH:D000138 Acidosis Ammonium Chloride 3.8018287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.3018653653
MESH:D000230 Adenocarcinoma arsenic trioxide 4.4819825857 11798837
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.4820127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 6.946695378
MESH:D000236 Adenoma Diethylnitrosamine 6.946695378 10737359
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 10.9019052882 16434500 19061943 18056438 17620307 17162532
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.9016434500
MESH:D000550 Amblyopia Valproic Acid 5.5017688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.7117497229
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.2919183758
MESH:D001321 Autistic Disorder Valproic Acid 1.9916609825 18316065 17688650 15238991 19460635 20603192 18177632 18985861 18775368 17507914 17157402 18558336 18940202 19232924 18396377
MESH:D001714 Bipolar Disorder Valproic Acid 3.1517594078 20046352
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 9.5816206674
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.5819483382
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.518888407
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0720146248 17474063
MESH:D001943 Breast Neoplasms Diethylnitrosamine 2.0717474063
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.5111589617
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 3.1315073043 15553829 11135700 14691202 16217749
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 3.1318785209 18393292 20432363 3084413 20935162 19822196 19418558 21159647 17428255 16502159 20007298 16328049 10737359 17138121 16540662 18506893 18665156 11831363 16698587 18210153 20524982 20514400 18691550 19701751 16681979 19052882 18971187 20727157 20084675 19171122 19335982 19539802 19394651 17978847 3581430 16288022 19519916 17761372 16807293 16935385 18056438 19208518 16779866 20214788 17055752 16569478 17162532 10672840 19383236 17173139 18788625 18494052 19107877 20101231 16878318 18978308 19919837 16830150 20512989
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.1419014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.2812490120
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.0920419170
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.0620889678
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 7.062727394 21159647 7505956 17174075
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7620734317
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 3.8419052882
MESH:D002779 Cholestasis pirinixic acid 2.9519176532
MESH:D003110 Colonic Neoplasms irinotecan 2.6217725105 17287894
MESH:D015179 Colorectal Neoplasms arsenic trioxide 2.7120501625
MESH:D015179 Colorectal Neoplasms irinotecan 2.7117159606 15273666 18259882 18509181 16391804 17454858 16303861
MESH:D023903 Coronary Restenosis arsenic trioxide 4.3812609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 2.7510525206
MESH:D019465 Craniofacial Abnormalities Valproic Acid 2.758888407 16575769 17688650
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.2815213294
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4918249437
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 2.2220387270
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 4.1119107877
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 4.111733752 19641884
MESH:D004421 Dystonia Valproic Acid 4.231851702
MESH:D004487 Edema pirinixic acid 2.6512083418
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.373659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.1816628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.0118234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 3.746254150 6426943 7562514
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.517750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.303659116
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.3816302075
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.4420426865
MESH:D004938 Esophageal Neoplasms arsenic trioxide 7.4412903497
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 7.4416530937
MESH:D005234 Fatty Liver arsenic trioxide 20.2715073043
MESH:D005234 Fatty Liver Diethylnitrosamine 20.2720387270 21071580
MESH:D005234 Fatty Liver pirinixic acid 20.2720131406 19236843
MESH:D005234 Fatty Liver Valproic Acid 20.2714986274 19224547
MESH:D005315 Fetal Diseases Valproic Acid 5.1516575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.338888407 18558336
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.4616904648
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.7420471113
MESH:D006333 Heart Failure pirinixic acid 2.6320558911
MESH:D006529 Hepatomegaly pirinixic acid 3.2119176532 16221962 19772884 18467677
MESH:D019247 HIV Wasting Syndrome testosterone enanthate 6.0117440010
MESH:D006849 Hydrocephalus Valproic Acid 5.1017688650
MESH:D006943 Hyperglycemia pirinixic acid 3.3420558911
MESH:D007249 Inflammation Diethylnitrosamine 2.4618785209
MESH:D007333 Insulin Resistance pirinixic acid 2.7416306350
MESH:D007938 Leukemia arsenic trioxide 2.9115070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 3.9717077332 12560223
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.5416972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.5514633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 3.9319077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 4.0016467208 16968895 20471514 17050201 19850784
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 4.0017596541 16294345
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.3217107899 19225113 16823087 15748426 16891316 19035177 16112521 16966277 9834237 16330433 15213294 19642359 11468182 15336539 17712046 12018890 12712474 12679006 19075265 16331271 15622746 11161223 17869043 17217047 17649720
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.5516882451
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.9120032147 18522880 18407596 18665156 19638242
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3415474484
MESH:D008107 Liver Diseases Diethylnitrosamine 2.1317034775
MESH:D008113 Liver Neoplasms arsenic trioxide 11.1814682389
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 11.1820195826 21137059
MESH:D008113 Liver Neoplasms Diethylnitrosamine 11.1820452335 21047994 19294768 19255062 19254457 19256749 12112319 18978307 18644402 9163691 19426721 19833225 21278145 19427195 12771043 19073162 18648771 16942905 19638242 2862719 15175105 20583210 19499222 20501860 20101389 19090486 18977376 20118626 18754104 20405173 20137499 19642983 19690152 2422723 19812893 20492335 20434301 10737359 21167192 21071580 15885732 19996281 19850985 19551842
MESH:D008113 Liver Neoplasms pirinixic acid 11.1820007298 16377806 15890375
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 6.3320377131
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 6.332563599 18775883 19519916 18544905 18093689 18079962 18164116 16267830 18253720 17854601 9362446 16842330 19004024 18308698 18282651 19539802 17174075 19009564 19126423 21159647 17942915 3124819
MESH:D008133 Long QT Syndrome arsenic trioxide 3.4815213294
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.5317228818
MESH:D008175 Lung Neoplasms arsenic trioxide 3.5219825857 11798837
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.5218520028 20464547 17053015 18816296 20869020 18569708 20064080 20135361 6695378
MESH:D008175 Lung Neoplasms Diethylnitrosamine 3.526695378 21163286 20512841 20970405
MESH:D008881 Migraine Disorders Valproic Acid 3.3118765137 18803445
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3216381670
MESH:D052016 Mucositis irinotecan 5.2517159606
MESH:D009101 Multiple Myeloma arsenic trioxide 3.2219417148 11468182 19549372 15949261 14977855
MESH:D009135 Muscular Diseases pirinixic acid 3.7216239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.208888407
MESH:D009182 Mycosis Fungoides arsenic trioxide 4.9418349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 7.7216882451 16105982
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 7.7217596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.2019151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0816411023
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.1616624393
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 6.163581430 9029167
MESH:D009362 Neoplasm Metastasis irinotecan 6.1618259882
MESH:D009369 Neoplasms Benzo(a)pyrene 5.0811141357
MESH:D009369 Neoplasms pirinixic acid 5.0817405874
MESH:D009436 Neural Tube Defects arsenic trioxide 7.6910525206
MESH:D009436 Neural Tube Defects Valproic Acid 7.6916359493 8888407
MESH:D009447 Neuroblastoma irinotecan 3.568761367
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 3.4820387270
MESH:D017599 Neuroectodermal Tumors irinotecan 4.978761367
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.3820387270
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D010051 Ovarian Neoplasms arsenic trioxide 2.4516624393 19769630 12452020
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 5.4515580305
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 5.4516540662
MESH:D010235 Paraganglioma arsenic trioxide 4.3519927285
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.702563599
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.0720603192
MESH:D011471 Prostatic Neoplasms arsenic trioxide 3.1419131511
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.1417292933
MESH:D019310 Pseudolymphoma Valproic Acid 4.8111422049 12752131
MESH:D015427 Reperfusion Injury pirinixic acid 2.4619058328
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.3619155313
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.1616646077
MESH:D012559 Schizophrenia Valproic Acid 2.0919110320 15737665
MESH:D012640 Seizures Valproic Acid 2.8514763951 17978042 11044598 15475178 3137016 16876388 1511512 11738929
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.4419755658 10029692
MESH:D016135 Spinal Dysraphism Valproic Acid 3.9119490988
MESH:D013226 Status Epilepticus Valproic Acid 4.8112833885
MESH:D013274 Stomach Neoplasms arsenic trioxide 4.8517007042
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 4.852093021 20155912
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 4.8518456281
MESH:D013274 Stomach Neoplasms irinotecan 4.8515723263
MESH:D013964 Thyroid Neoplasms arsenic trioxide 7.6319014326
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 7.637505956
MESH:D016171 Torsades de Pointes arsenic trioxide 4.2015213294
MESH:D014178 Translocation, Genetic Valproic Acid 5.5017262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.763119515
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 5.2420435036 12973940 11780464 12845720
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.2417053015
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.868888407
No data
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  (e.g. CHD8)

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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