AutismKB 2.0

Annotation Detail for FLNC


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Basic Information Top
Gene Symbol:FLNC ( ABP-280,ABP280A,ABPA,ABPL,FLJ10186,FLN2 )
Gene Full Name: filamin C, gamma
Band: 7q32.1
Quick LinksEntrez ID:2318; OMIM: 102565; Uniprot ID:FLNC_HUMAN; ENSEMBL ID: ENSG00000128591; HGNC ID: 3756
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04010MAPK signaling pathway
hsa04510Focal adhesion
Pathway IDPathway Name
Cell junction organization
No data
No data
No data
Related Diseases/Disorders Top
No data
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No data
Desease Name
Myopathy, myofibrillar, filamin C-related
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016601 4-hydroxytamoxifen 4-hydroxytamoxifen results in decreased expression of FLNC mRNAdecreases expression 16514628
D019324 beta-Naphthoflavone beta-Naphthoflavone results in increased expression of FLNC mRNAincreases expression 19737606
D002251 Carbon Tetrachloride Carbon Tetrachloride results in increased expression of FLNC mRNAincreases expression 17484886
D004958 Estradiol Estradiol results in decreased expression of FLNC mRNAdecreases expression 16514628
D000431 Ethanol [Fish Oils co-treated with Ethanol] results in increased expression of FLNC mRNAaffects cotreatment|increases expression 17347304
D005395 Fish Oils [Fish Oils co-treated with Ethanol] results in increased expression of FLNC mRNAaffects cotreatment|increases expression 17347304
C070081 fulvestrant fulvestrant results in decreased expression of FLNC mRNAdecreases expression 16514628
C008493 methylselenic acid methylselenic acid results in increased expression of FLNC mRNAincreases expression 18548127
D020849 Raloxifene Raloxifene results in decreased expression of FLNC mRNAdecreases expression 16514628
D013629 Tamoxifen Tamoxifen affects the expression of FLNC mRNAaffects expression 14699072
D019772 Topotecan FLNC protein affects the susceptibility to Topotecanaffects response to substance 16217747
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.7614745880
MESH:D000014 Abnormalities, Drug-Induced Ethanol 4.1117676605 18926900
MESH:D000138 Acidosis Ethanol 4.6911192467
MESH:D000230 Adenocarcinoma Estradiol 2.1311473722
MESH:D000236 Adenoma beta-Naphthoflavone 3.4119389873
MESH:D000419 Albuminuria Raloxifene 4.7617451421 17308373
MESH:D020268 Alcohol-Induced Disorders, Nervous System Ethanol 5.5415451040 15451039
MESH:D000544 Alzheimer Disease Raloxifene 2.5715800139
MESH:D000853 Anophthalmos Ethanol 5.0015513904
MESH:D001008 Anxiety Disorders Ethanol 4.1211141031
MESH:D001284 Atrophy fulvestrant 5.0111514358
MESH:D001930 Brain Injuries Raloxifene 4.6516580743
MESH:D001943 Breast Neoplasms Estradiol 2.0312948864 18497071 17289903 19861407 17261762 16675129 17018787 14630087
MESH:D001943 Breast Neoplasms fulvestrant 2.0318984771
MESH:D001943 Breast Neoplasms Raloxifene 2.0315775269 16912660 16837676 17595753 15758505 15572757 17893378 17242785 17952589 17440819 17049068 17261762
MESH:D001943 Breast Neoplasms Tamoxifen 2.0319410462 19084267 20859285 15565566 18821012 20135344 18997820 15668708 21152245 19155303 17440819 19221464 16818667 11161223 19244106 19142967 17049068 19189210 19487384 18629630 19059307 18351453 19066611 19189212 16873071 18815881 19200415 19288272 16273361 20544844 19103187 17893378 20390343 19011961 21138602 18855134 17261762 19115204 20065188 18425577 19289846 18984771 20005174 17242785 16202921
MESH:D002056 Burns Ethanol 4.8316374292
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.6616111702
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.9516192424 15673190 16097048 15721981 10355542 16227642 3786805 15700767 16050911 16124888 18705752 16011737
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.6819066611
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 6.7718788625
MESH:D006528 Carcinoma, Hepatocellular Estradiol 6.7716924424
MESH:D006528 Carcinoma, Hepatocellular Ethanol 6.7715289165 15763234 18788625
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 6.7716924424
MESH:D002295 Carcinoma, Transitional Cell Raloxifene 9.9417572228
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 9.9417572228
MESH:D006332 Cardiomegaly Ethanol 3.5119332462
MESH:D002318 Cardiovascular Diseases Raloxifene 3.5415775269
MESH:D002471 Cell Transformation, Neoplastic Estradiol 2.8618566989
MESH:D002971 Cleft Lip Ethanol 3.6515513904
MESH:D002972 Cleft Palate Ethanol 3.2215513904
MESH:D003072 Cognition Disorders Raloxifene 4.7915800139
MESH:D015179 Colorectal Neoplasms marker/mechanism 21278247
MESH:D019465 Craniofacial Abnormalities Ethanol 2.3315513904 19302082 15451040 15451039 11873399 11198716 10194807
MESH:D003711 Demyelinating Diseases Tamoxifen 4.5419031437
MESH:D003865 Depressive Disorder, Major Raloxifene 4.2917474826
MESH:D003928 Diabetic Nephropathies Estradiol 15.7719279558
MESH:D003928 Diabetic Nephropathies Raloxifene 15.7715920148 17451421 17308373
MESH:D003928 Diabetic Nephropathies Tamoxifen 15.7719279558
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 4.2419336974 7440962 3732212 10915739 11566570 16227642 7179309 19085960 15027814 4309450 6884620 15968718 3786805 17522070 15998439 6623471 2869522 16177239 10092053 7120509 9327722 21278145
MESH:D056486 Drug-Induced Liver Injury Ethanol 4.2411566570
MESH:D004487 Edema Raloxifene 3.4715860553
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Raloxifene 9.7915845917
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 9.7919031437
MESH:D016889 Endometrial Neoplasms 4-hydroxytamoxifen 13.0819148513
MESH:D016889 Endometrial Neoplasms Estradiol 13.0811473722 18566989 19148513
MESH:D016889 Endometrial Neoplasms Tamoxifen 13.0816202921 17893378 19155303 20544844
MESH:D004938 Esophageal Neoplasms Ethanol 2.7816704527
MESH:D005234 Fatty Liver Carbon Tetrachloride 26.2916045604 12631006 16239168 17595544 61145 12795759 19224547 15959796
MESH:D005234 Fatty Liver Ethanol 26.2918620774 19236843 16409862
MESH:D005234 Fatty Liver Fish Oils 26.2918620774
MESH:D005234 Fatty Liver Raloxifene 26.2917473493
MESH:D005234 Fatty Liver Tamoxifen 26.2914986274 19224547
MESH:D005235 Fatty Liver, Alcoholic Ethanol 5.8817920746
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3116709447
MESH:D005310 Fetal Alcohol Syndrome Ethanol 5.4916946407 15513904 15451040 10194807
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.7214745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.3819069698
MESH:D005355 Fibrosis Carbon Tetrachloride 3.6318705752
MESH:C537932 Filaminopathy, autosomal dominant marker/mechanism
MESH:D005756 Gastritis Ethanol 4.9115046732
MESH:D006331 Heart Diseases Raloxifene 3.6311110106
MESH:D006505 Hepatitis Carbon Tetrachloride 3.7619110552 19900420
MESH:D006558 Herpes Genitalis Estradiol 5.2515709030
MESH:D019584 Hot Flashes Estradiol 3.9717088409
MESH:D006930 Hyperalgesia Ethanol 3.8318783367
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.7316899240
MESH:D006949 Hyperlipidemias Fish Oils 4.9015752949
MESH:D006968 Hypersensitivity, Delayed Fish Oils 5.7211484837
MESH:D006973 Hypertension Raloxifene 2.9115787275 17577099
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.2615338365
MESH:D007248 Infertility, Male fulvestrant 3.8411514358
MESH:D007249 Inflammation Tamoxifen 2.4219457130
MESH:D007333 Insulin Resistance Estradiol 3.0516393666 16627594
MESH:D007569 Jaw Abnormalities Ethanol 4.5515513904
MESH:D007674 Kidney Diseases Estradiol 2.6615618244
MESH:D007680 Kidney Neoplasms Estradiol 7.7815610895
MESH:D007680 Kidney Neoplasms Tamoxifen 7.7818625569
MESH:D007859 Learning Disorders Ethanol 4.3915451040
MESH:D007889 Leiomyoma Raloxifene 4.6516973256
MESH:D017880 Limb Deformities, Congenital Ethanol 3.9117676605
MESH:D008064 Lipidoses Tamoxifen 3.2517567588 15342952
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 7.0517157831 21278145 16221502 17174718 11408273 17334410 16943688 16239168 11903743
MESH:D008103 Liver Cirrhosis Ethanol 7.0515289165
MESH:D008104 Liver Cirrhosis, Alcoholic Ethanol 5.2918295389
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 5.1114748882 12632512 17805973 15893842 12632514 18429990 12898905 12609069 12546737 17900296 17481882 15959796 14716496 11481614 15818738 15362042 17557913 18187930 18472332 18279442 17869086 17631135 17714472 17766677 15673190 15123356 15730626 15996030 12649538 18156304 18472094 17525996 18277467 18205269 17708605 16027843 18395914 17721639 18210741 13678700 16015684 15052691 16248980 15876570 12666154 18420326 17823541 18395095 17761835 16097048 18412020 18376398 15338365 18418968 18317297 20821823 17565644 12667390 17922224 18251166 18481824 14716833 15057751 16192424 14620537 14724832 16136751 17976157 15925388 18339082 14512876 16011737 18054572 16033810 16638106 12586293 17944888 12741479 18705752 10355542 15370692 15650968 12389079 18263696 16116963 17640975 12445418 12958196 17698563 12445421 18166357 18006644 15931870
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 5.1114659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental Ethanol 5.1118166357
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 5.1118564211
MESH:D008107 Liver Diseases Carbon Tetrachloride 2.1115830285 16964402 15720792 16246199 17285989
MESH:D008108 Liver Diseases, Alcoholic Ethanol 4.8317207112 17347304
MESH:D017093 Liver Failure Carbon Tetrachloride 4.3415123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.8214706259 16899240
MESH:D008113 Liver Neoplasms beta-Naphthoflavone 7.8021295105 19389873
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 7.8019294768
MESH:D008113 Liver Neoplasms Tamoxifen 7.8016684651
MESH:D008114 Liver Neoplasms, Experimental beta-Naphthoflavone 6.4118164116
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 6.4112014681 15583823
MESH:D008175 Lung Neoplasms Tamoxifen 1.7418625569
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 3.9519428831
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.2616891317 11807958 17203775 11408345
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 6.2616827153 14580682 19196722 11731420 19196723
MESH:D020149 Manganese Poisoning Estradiol 13.3919453300
MESH:D020149 Manganese Poisoning Tamoxifen 13.3919453300
MESH:D008545 Melanoma Tamoxifen 1.9019393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.3815990972
MESH:D008569 Memory Disorders Ethanol 4.3518411066 15451040
MESH:D018200 Mixed Tumor, Mullerian Raloxifene 5.7715863610
MESH:D009101 Multiple Myeloma Raloxifene 3.5316497877
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.3916810080
MESH:D009232 Myxoma Raloxifene 5.7716343187
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.5919393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5519410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.2219196722 19189210 19200415
MESH:D009389 Neovascularization, Pathologic Estradiol 3.9317289903
MESH:D009421 Nervous System Malformations Estradiol 3.8111399458 16427766
MESH:D009447 Neuroblastoma Topotecan 3.9115176712
MESH:D010024 Osteoporosis Raloxifene 3.4717882678 15775268 19059307
MESH:D015663 Osteoporosis, Postmenopausal Raloxifene 4.3817823083 17893378 15758505 15579764
MESH:D010051 Ovarian Neoplasms Estradiol 2.2519401270
MESH:D010190 Pancreatic Neoplasms Ethanol 3.0112384795
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.0220887781
MESH:D011471 Prostatic Neoplasms Estradiol 2.0916740699
MESH:D011471 Prostatic Neoplasms methylselenic acid 2.0916205645
MESH:D011471 Prostatic Neoplasms Raloxifene 2.0915731164 16536755 16220300
MESH:D011471 Prostatic Neoplasms Tamoxifen 2.0915067354
MESH:D011693 Purpura Raloxifene 5.7715770314
MESH:D012640 Seizures Ethanol 3.269754883
MESH:D013088 Spermatocele Tamoxifen 4.5116709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.2319457130
MESH:D013274 Stomach Neoplasms Ethanol 2.3018456281
MESH:D013276 Stomach Ulcer Ethanol 3.679211565 11906479 9562338 17918041 17189318 16755016
MESH:D020521 Stroke Raloxifene 3.9316837676
MESH:D013375 Substance Withdrawal Syndrome Ethanol 4.399754883
MESH:D013978 Tibial Fractures Estradiol 14.4519048282
MESH:D013978 Tibial Fractures Raloxifene 14.4519048282
MESH:D001749 Urinary Bladder Neoplasms Raloxifene 5.3917572228
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 5.3916712894 8653321 17572228
MESH:D054556 Venous Thromboembolism Raloxifene 5.4316837676
MESH:D014846 Vulvar Neoplasms Raloxifene 5.7716343187
Pathway ID Pathway Name
REACT:20676 Cell junction organization
KEGG:04510 Focal adhesion
KEGG:04010 MAPK signaling pathway
Pharmacogenomics Knowledge Base Top
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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