AutismKB 2.0

Annotation Detail for FBLIM1


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Basic Information Top
Gene Symbol:FBLIM1 ( CAL,DKFZp434G171,FBLP-1,FBLP1 )
Gene Full Name: filamin binding LIM protein 1
Band: 1p36.21
Quick LinksEntrez ID:54751; OMIM: 607747; Uniprot ID:FBLI1_HUMAN; ENSEMBL ID: ENSG00000162458; HGNC ID: 24686
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
Cell junction organization
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Pathway IDPathway Name
500123Cell-extracellular matrix interactions
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D019324 beta-Naphthoflavone [Diethylnitrosamine co-treated with beta-Naphthoflavone] results in increased expression of FBLIM1 mRNAaffects cotreatment|increases expression 18164116
D002251 Carbon Tetrachloride Carbon Tetrachloride results in increased expression of FBLIM1 mRNAincreases expression 17484886
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with beta-Naphthoflavone] results in increased expression of FBLIM1 mRNAaffects cotreatment|increases expression 18164116
D002117 Calcitriol Calcitriol results in increased expression of FBLIM1 mRNAincreases expression 16002434
D004958 Estradiol Estradiol inhibits the reaction [Lipopolysaccharides results in increased expression of FBLIM1 mRNA]decreases reaction|increases expression 16977382
D008070 Lipopolysaccharides Estradiol inhibits the reaction [Lipopolysaccharides results in increased expression of FBLIM1 mRNA]decreases reaction|increases expression 16977382
D008070 Lipopolysaccharides Lipopolysaccharides results in increased expression of FBLIM1 mRNAincreases expression 16977382
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury Lipopolysaccharides 4.3811850527 18653653
MESH:D000230 Adenocarcinoma Estradiol 2.1611473722
MESH:D000236 Adenoma beta-Naphthoflavone 7.4419389873
MESH:D000236 Adenoma Diethylnitrosamine 7.446695378 10737359
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 4.3616434500 17620307 18056438 19052882 17162532 19061943
MESH:D001943 Breast Neoplasms Calcitriol 1.9311237771
MESH:D001943 Breast Neoplasms Diethylnitrosamine 1.9317474063
MESH:D001943 Breast Neoplasms Estradiol 1.9312948864 17261762 17289903 16675129 14630087 17018787 19861407 18497071
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.9316111702
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 4.2016227642 18705752 15673190 16097048 15700767 16192424 15721981 16050911 3786805 16124888 16011737 10355542
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 4.8118788625
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 4.8116681979 17055752 18056438 10737359 16698587 16878318 19383236 16502159 16830150 19208518 20935162 16569478 16807293 19171122 16540662 17761372 19107877 20214788 17162532 17978847 17428255 16288022 18494052 18393292 18785209 3084413 20084675 18210153 20101231 10672840 19394651 17173139 20512989 19052882 18691550 18665156 19519916 16328049 20432363 20727157 18978308 17138121 11831363 20514400 20524982 18971187 19701751 16935385 20007298 19418558 19335982 19919837 21159647 19539802 18506893 18788625 3581430 16779866 19822196
MESH:D006528 Carcinoma, Hepatocellular Estradiol 4.8116924424
MESH:D002294 Carcinoma, Squamous Cell Calcitriol 2.6911237771
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 7.4017174075 2727394 21159647 7505956
MESH:D002471 Cell Transformation, Neoplastic Estradiol 7.4018566989
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 3.9719052882
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 2.2520387270
MESH:D003928 Diabetic Nephropathies Estradiol 3.7019279558
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 4.1710092053 17522070 15998439 19085960 7179309 21278145 19336974 4309450 6623471 2869522 11566570 15968718 7440962 9327722 3732212 16177239 15027814 16227642 3786805 10915739 7120509 6884620
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 4.1719107877
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Calcitriol 4.3115138306
MESH:D016889 Endometrial Neoplasms Estradiol 3.1719148513 18566989 11473722
MESH:D019446 Endotoxemia Lipopolysaccharides 4.8615821434 15328337 17637181
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.6416302075
MESH:D005234 Fatty Liver Carbon Tetrachloride 8.9315959796 16239168 12795759 17595544 12631006 16045604 61145 19224547
MESH:D005234 Fatty Liver Diethylnitrosamine 8.9320387270 21071580
MESH:D005334 Fever Lipopolysaccharides 4.3211852909 9205823
MESH:D005355 Fibrosis Carbon Tetrachloride 3.8718705752
MESH:D006463 Hemolytic-Uremic Syndrome Lipopolysaccharides 4.6916366002
MESH:D006505 Hepatitis Carbon Tetrachloride 3.9719900420 19110552
MESH:D006558 Herpes Genitalis Estradiol 5.5515709030
MESH:D019584 Hot Flashes Estradiol 4.2717088409
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.9916899240
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.5015338365
MESH:D007249 Inflammation Diethylnitrosamine 5.7618785209
MESH:D007249 Inflammation Lipopolysaccharides 5.7612878042 9205823 17237260 17255318 17963957
MESH:D007333 Insulin Resistance Estradiol 3.1616393666 16627594
MESH:D019189 Iron Metabolism Disorders Lipopolysaccharides 4.9817255318
MESH:D007674 Kidney Diseases Estradiol 2.7415618244
MESH:D007680 Kidney Neoplasms Estradiol 3.2415610895
MESH:D007970 Leukopenia Lipopolysaccharides 5.1615821434
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 7.1311408273 17334410 16943688 21278145 16221502 16239168 17157831 17174718 11903743
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 7.1318407596 19638242 20032147 18665156 18522880
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 3.7312389079 16192424 17557913 12632512 18251166 17631135 16248980 15959796 18006644 15052691 17481882 12958196 18210741 15650968 16015684 13678700 16027843 15996030 15370692 15876570 17714472 18205269 12445421 15893842 12667390 10355542 12898905 11481614 15730626 12741479 18472094 20821823 12666154 18279442 17708605 12586293 17525996 17976157 14748882 15362042 17640975 18339082 17761835 17565644 15673190 18187930 16136751 18317297 15818738 15123356 18472332 17721639 18376398 16116963 15925388 16011737 14716496 17766677 15338365 18263696 12445418 17922224 17823541 16638106 18412020 16033810 17698563 15931870 18429990 15057751 18277467 18395095 12649538 17900296 18395914 18481824 14620537 14716833 12546737 16097048 17869086 18166357 14512876 12609069 12632514 17944888 18156304 18705752 18418968 14724832 17805973 18420326 18054572
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.7314659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental Lipopolysaccharides 3.7312878042
MESH:D008107 Liver Diseases Carbon Tetrachloride 4.2916246199 16964402 15830285 15720792 17285989
MESH:D008107 Liver Diseases Diethylnitrosamine 4.2917034775
MESH:D017093 Liver Failure Carbon Tetrachloride 4.5815123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.9914706259 16899240
MESH:D008113 Liver Neoplasms beta-Naphthoflavone 8.1121295105 19389873
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 8.1119294768
MESH:D008113 Liver Neoplasms Diethylnitrosamine 8.1118978307 18648771 20583210 18754104 15885732 12771043 19255062 19090486 20118626 19254457 19256749 20101389 20501860 20452335 9163691 19812893 19833225 20434301 19642983 18977376 20405173 19690152 21071580 2422723 21167192 15175105 10737359 20137499 20492335 19294768 19996281 18644402 2862719 19850985 19551842 12112319 19427195 21278145 16942905 19499222 19638242 19073162 19426721 21047994
MESH:D008114 Liver Neoplasms, Experimental beta-Naphthoflavone 11.0118164116
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 11.0112014681 15583823
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 11.0118253720 19539802 2563599 17854601 18282651 16267830 19004024 18544905 21159647 18775883 19519916 18079962 18164116 19009564 17174075 3124819 17942915 19126423 18308698 16842330 9362446 18093689
MESH:D055370 Lung Injury Lipopolysaccharides 4.4221114838
MESH:D008175 Lung Neoplasms Diethylnitrosamine 1.7620970405 21163286 6695378 20512841
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.7416891317 11807958 11408345 17203775
MESH:D020149 Manganese Poisoning Estradiol 5.0019453300
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.5216810080
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.679029167 3581430
MESH:D009389 Neovascularization, Pathologic Estradiol 4.1917289903
MESH:D009421 Nervous System Malformations Estradiol 4.0316427766 11399458
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 3.6120387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.6420387270
MESH:D010051 Ovarian Neoplasms Estradiol 2.2919401270
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.5116540662
MESH:D011014 Pneumonia Lipopolysaccharides 5.0211605937 12224865
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.842563599
MESH:D011470 Prostatic Hyperplasia Calcitriol 5.2415572423
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.2120887781
MESH:D011471 Prostatic Neoplasms Calcitriol 3.2516289102 16644109 15754350 18247401 12479363
MESH:D011471 Prostatic Neoplasms Estradiol 3.2516740699
MESH:D012130 Respiratory Hypersensitivity Lipopolysaccharides 3.9210835634
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 1.7618456281
MESH:D013921 Thrombocytopenia Lipopolysaccharides 4.4715821434
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.227505956
MESH:D013978 Tibial Fractures Estradiol 5.2119048282
Pathway ID Pathway Name
REACT:20676 Cell junction organization
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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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