AutismKB 2.0

Annotation Detail for FRMD6


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Basic Information Top
Gene Symbol:FRMD6 ( C14orf31,EX1,MGC17921,Willin,c14_5320 )
Gene Full Name: FERM domain containing 6
Band: 14q22.1
Quick LinksEntrez ID:122786; OMIM: NA; Uniprot ID:FRMD6_HUMAN; ENSEMBL ID: ENSG00000139926; HGNC ID: 19839
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
Brain structure
NEUROLOGICAL
hippocampal atrophy
Desease Name
Brain structure
Hippocampal atrophy
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of FRMD6 mRNAaffects expression 17562736
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of FRMD6 proteinaffects expression 20106945
D000643 Ammonium Chloride Ammonium Chloride affects the expression of FRMD6 mRNAaffects expression 16483693
D017638 Asbestos, Crocidolite Asbestos, Crocidolite results in increased expression of FRMD6 mRNAincreases expression 18687144
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of FRMD6 mRNAincreases expression 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 FRMD6 mRNAdecreases expression 19150397
C055494 caffeic acid phenethyl ester [Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of FRMD6 mRNAaffects cotreatment|decreases expression 20360939
D016572 Cyclosporine Cyclosporine results in increased expression of FRMD6 mRNAincreases expression 20106945
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of FRMD6 mRNAaffects cotreatment|decreases expression 20360939
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of FRMD6 mRNAaffects binding|increases activity|increases expression 19710929
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.8018287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.3018653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0220127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 6.946695378
MESH:D000236 Adenoma Diethylnitrosamine 6.946695378 10737359
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 10.9016434500 17620307 17162532 19061943 18056438 19052882
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.9016434500
MESH:D000799 Angioedema Acetaminophen 4.1110982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.2919183758
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.3219483382
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0717474063 20146248
MESH:D001943 Breast Neoplasms Diethylnitrosamine 2.0717474063
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.683084413
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 4.6812907637 12619106 21507988
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 4.6817761372 19394651 16878318 19335982 18691550 3581430 18506893 18978308 18494052 20084675 19701751 18785209 16681979 19418558 18788625 16779866 10672840 18971187 20214788 10737359 16288022 16807293 20727157 17162532 19919837 21159647 20432363 16540662 19208518 20007298 18210153 20512989 16935385 20101231 17055752 16830150 19052882 18665156 16569478 19519916 16328049 19822196 18393292 16698587 19107877 17428255 17173139 17978847 3084413 17138121 16502159 20935162 19383236 11831363 18056438 19539802 20514400 20524982 19171122
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.0920419170
MESH:D002386 Cataract Acetaminophen 2.6710977129
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 11.8320889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 11.8312371664
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 11.8321159647 7505956 17174075 2727394
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 3.8419052882
MESH:D002779 Cholestasis Cyclosporine 8.1819486331
MESH:D002779 Cholestasis pirinixic acid 8.1819176532
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4918249437
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 2.2220387270
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.8911834606 10774834 16227642 19370779 19739265 12392966 11287661 10663392 10915739 18713872 12958197 12153990 14986274 11529661 16109766 15619225 16177239 16393943 19416960 2444490 11461765 12705907 19085960 12540782 17906064 17562736 18071297 11739529 16081117 14550746 16781746 16485898 14725611 11743745 12594235 19923254 15968718 19420014 11421492 17522070 19164858
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 3.8919107877
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3619426721
MESH:D004487 Edema pirinixic acid 2.6512083418
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.3816302075
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.4820426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.4816530937
MESH:D005234 Fatty Liver Cyclosporine 14.0819224547
MESH:D005234 Fatty Liver Diethylnitrosamine 14.0820387270 21071580
MESH:D005234 Fatty Liver pirinixic acid 14.0819236843 20131406
MESH:D005355 Fibrosis Cyclosporine 3.3612639820 12168785
MESH:D005756 Gastritis Acetaminophen 3.9416983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.468708960
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.7420471113
MESH:D006333 Heart Failure pirinixic acid 2.6320558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.6615720958
MESH:D006529 Hepatomegaly pirinixic acid 3.2118467677 19772884 16221962 19176532
MESH:D006930 Hyperalgesia Acetaminophen 2.8416870215
MESH:D006943 Hyperglycemia pirinixic acid 3.3420558911
MESH:D006973 Hypertension Cyclosporine 2.1510903974
MESH:D007249 Inflammation Diethylnitrosamine 2.4618785209
MESH:D007333 Insulin Resistance pirinixic acid 2.7416306350
MESH:D007414 Intestinal Neoplasms caffeic acid phenethyl ester 4.7510783313
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7115604871
MESH:D007674 Kidney Diseases Acetaminophen 10.6515629191 12587719
MESH:D007674 Kidney Diseases caffeic acid phenethyl ester 10.6515369732
MESH:D007674 Kidney Diseases Cyclosporine 10.658314463 10903974 18776723
MESH:D007680 Kidney Neoplasms Cyclosporine 2.8812371664
MESH:D015473 Leukemia, Promyelocytic, Acute caffeic acid phenethyl ester 4.1016766008
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.9120032147 19638242 18522880 18407596 18665156
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3415474484
MESH:D008107 Liver Diseases Acetaminophen 4.0312587719 12969438 11587558 19014921 16611625 19784758 19460945 16610002
MESH:D008107 Liver Diseases Diethylnitrosamine 4.0317034775
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4016871587 17185352
MESH:D008113 Liver Neoplasms Aflatoxin B1 11.1818177683 9163691 15890375 2125692
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 11.1820195826 21137059
MESH:D008113 Liver Neoplasms Diethylnitrosamine 11.1820452335 20405173 18978307 19427195 19294768 19090486 15885732 2862719 20137499 19551842 12771043 2422723 19426721 21071580 21278145 21167192 18754104 20118626 18644402 20501860 20101389 19642983 19638242 19073162 19254457 19833225 18648771 21047994 19812893 20434301 18977376 16942905 19499222 19850985 15175105 19255062 12112319 19996281 19256749 20583210 19690152 9163691 20492335 10737359
MESH:D008113 Liver Neoplasms pirinixic acid 11.1815890375 20007298 16377806
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 6.348603461
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 6.3417942915 19539802 9362446 18079962 16842330 16267830 18308698 18775883 3124819 19009564 19519916 21159647 17854601 18544905 18282651 19004024 18093689 17174075 19126423 18253720 2563599 18164116
MESH:D055370 Lung Injury Asbestos, Crocidolite 4.2417365036
MESH:D008175 Lung Neoplasms Aflatoxin B1 3.5214755239
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.5218520028 20135361 18816296 6695378 20464547 17053015 18569708 20064080 20869020
MESH:D008175 Lung Neoplasms Diethylnitrosamine 3.5220970405 21163286 20512841 6695378
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7819513568
MESH:D008654 Mesothelioma Asbestos, Crocidolite 3.2418303189 16966607 16166281
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.0516801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3216381670
MESH:D009135 Muscular Diseases pirinixic acid 3.7216239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2019151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0816411023
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.623581430 9029167
MESH:D009369 Neoplasms Benzo(a)pyrene 5.0811141357
MESH:D009369 Neoplasms pirinixic acid 5.0817405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4418481113 19348381
MESH:D019636 Neurodegenerative Diseases Acetaminophen 8.6718514411
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 8.6720387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.3820387270
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D010146 Pain Acetaminophen 2.5316870215
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.4716540662
MESH:D010995 Pleural Diseases Asbestos, Crocidolite 5.1110923243
MESH:D011230 Precancerous Conditions Cyclosporine 9.4612371664
MESH:D011230 Precancerous Conditions Diethylnitrosamine 9.462563599
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9417292933
MESH:D011565 Psoriasis Cyclosporine 2.2816882103
MESH:D011658 Pulmonary Fibrosis Asbestos, Crocidolite 3.0817365031 17322281 15814490 17975199
MESH:D015427 Reperfusion Injury pirinixic acid 2.4619058328
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.4410029692 19755658
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.3720155912 2093021
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 2.3718456281
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.117505956
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2317053015
MESH:D014581 Urticaria Acetaminophen 3.1610982225
MESH:D014605 Uveitis Cyclosporine 4.251336536
MESH:D014985 Xerophthalmia Cyclosporine 4.7117120751
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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