AutismKB 2.0

Annotation Detail for H2AFV


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Basic Information Top
Gene Symbol:H2AFV ( FLJ26479,H2AV,MGC10170,MGC10831,MGC1947 )
Gene Full Name: H2A histone family, member V
Band: 7p13
Quick LinksEntrez ID:94239; OMIM: NA; Uniprot ID:H2AV_HUMAN; ENSEMBL ID: ENSG00000105968; HGNC ID: 20664
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05322Systemic lupus erythematosus
No data
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of H2AFV mRNAaffects expression 17562736
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of H2AFV mRNAdecreases expression 20127859
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of H2AFV mRNAdecreases expression 15336504
D016572 Cyclosporine Cyclosporine results in decreased expression of H2AFV mRNAdecreases expression 20106945
D004958 Estradiol [Progesterone co-treated with Estradiol] results in decreased expression of H2AFV mRNAaffects cotreatment|decreases expression 17404688
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of H2AFV mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of H2AFV mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in decreased expression of H2AFV mRNAaffects cotreatment|decreases expression 17942748
D011374 Progesterone [Progesterone co-treated with Estradiol] results in decreased expression of H2AFV mRNAaffects cotreatment|decreases expression 17404688
D018038 Sodium Selenite Sodium Selenite results in increased expression of H2AFV mRNAincreases expression 18175754
D013629 Tamoxifen Tamoxifen affects the expression of H2AFV mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in decreased expression of H2AFV mRNAaffects cotreatment|decreases expression 17942748
C066340 tolcapone tolcapone binds to H2AFV proteinaffects binding 19783845
D019772 Topotecan H2AFV 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 4.7214745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0015322242 14514962 11752688
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.1217505938
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 7.1520127859 20464547
MESH:D000230 Adenocarcinoma Estradiol 7.1511473722
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 7.1514692618
MESH:D000236 Adenoma Benzo(a)pyrene 2.716695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.5316835633
MESH:D017109 Akathisia, Drug-Induced tolcapone 6.4711080934
MESH:D000544 Alzheimer Disease tolcapone 3.3020150427
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0511748828
MESH:D000799 Angioedema Acetaminophen 4.0210982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.2119183758
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6011256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7315885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.1512125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.9615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8315746008
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.5117868700
MESH:D001930 Brain Injuries Progesterone 4.4015845082 15665606 15380490
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.3520146248 17474063
MESH:D001943 Breast Neoplasms Estradiol 2.3516675129 14630087 12948864 17018787 17289903 17261762 19861407 18497071
MESH:D001943 Breast Neoplasms Progesterone 2.3517614352 15562024 16175315
MESH:D001943 Breast Neoplasms Tamoxifen 2.3519189210 16273361 19142967 17440819 15565566 19244106 19155303 21152245 19410462 17261762 19189212 19200415 18815881 16873071 19084267 17049068 21138602 20390343 16202921 19059307 20135344 18984771 19115204 20005174 18855134 20859285 18629630 19103187 11161223 19288272 15668708 19487384 20544844 19289846 19011961 20065188 19221464 18997820 17893378 17242785 18351453 16818667 18821012 18425577 19066611
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.3520435547
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.6216111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8916835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.6419066611
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.603084413
MESH:D006528 Carcinoma, Hepatocellular Estradiol 4.6016924424
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 4.6016924424
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.0820419170
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.7217572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4218670907 16120746 18850075
MESH:D002386 Cataract Acetaminophen 2.6410977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.8212371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 6.8218566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2616835633
MESH:D002779 Cholestasis Cyclosporine 8.0519486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.0516105132 11677210 16919318 17333356 17681005 15861022 17110522
MESH:D019457 Chromosome Breakage Sodium Selenite 4.8915894690
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1412621046 15340226 15668235 8697196 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1614669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 20055451 15322242
MESH:D003711 Demyelinating Diseases Tamoxifen 4.5019031437
MESH:D003866 Depressive Disorder tolcapone 4.3811224284 7768276
MESH:D003865 Depressive Disorder, Major tolcapone 5.0010440460
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.8716285004
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6917107852
MESH:D003928 Diabetic Nephropathies Estradiol 9.1719279558
MESH:D003928 Diabetic Nephropathies Tamoxifen 9.1719279558
MESH:D003929 Diabetic Neuropathies Progesterone 4.6317187935
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 9.2717522070 16485898 16109766 19164858 10915739 19370779 16177239 18713872 11834606 16393943 11421492 17562736 11287661 10663392 14725611 11743745 16227642 2444490 15968718 11529661 18071297 19923254 19085960 12392966 17906064 12540782 16781746 12153990 12705907 12594235 19739265 11739529 12958197 14550746 16081117 19420014 19416960 14986274 11461765 10774834 15619225
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 9.2715131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.2720420201
MESH:D056486 Drug-Induced Liver Injury tolcapone 9.2719783845 16604736
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.2719426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8411462148
MESH:D004409 Dyskinesia, Drug-Induced tolcapone 5.5711455177
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.4812711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0815322242 16714409 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 16.0912538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 16.0917692515
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 16.0919031437
MESH:D016889 Endometrial Neoplasms Estradiol 7.6218566989 11473722 19148513
MESH:D016889 Endometrial Neoplasms Tamoxifen 7.6219155303 20544844 17893378 16202921
MESH:D004715 Endometriosis Progesterone 9.2816134523
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 9.289294722 10568697
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0316530937
MESH:D054908 Extensively Drug-Resistant Tuberculosis tolcapone 6.1219578428
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0911564622
MESH:D005234 Fatty Liver Cyclosporine 13.7119224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 13.7115345470
MESH:D005234 Fatty Liver Tamoxifen 13.7119224547 14986274
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3016709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5911858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.6814745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.3419069698
MESH:D005355 Fibrosis Cyclosporine 8.9512639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 8.9520067830
MESH:D005756 Gastritis Acetaminophen 3.8516983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.378708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.7710696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.6320471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.6310048152 11294989
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.5815720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4411000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.0312621046 15340226 16120746
MESH:D006558 Herpes Genitalis Estradiol 5.2115709030
MESH:D019584 Hot Flashes Estradiol 3.9317088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.228697196 18606429 15340226 16354765 16959395
MESH:D006930 Hyperalgesia Acetaminophen 2.7916870215
MESH:D006973 Hypertension Cyclosporine 5.0710903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.0718670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9516569931 16945680
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.5415869954
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.5812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5617937319
MESH:D007249 Inflammation Progesterone 8.6215869954
MESH:D007249 Inflammation Tamoxifen 8.6219457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 8.6212878042 12200463
MESH:D007333 Insulin Resistance Estradiol 7.6716627594 16393666
MESH:D007333 Insulin Resistance Sodium Selenite 7.6714714311
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4416580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.6215604871
MESH:D007674 Kidney Diseases Acetaminophen 10.3315629191 12587719
MESH:D007674 Kidney Diseases Cyclosporine 10.3318776723 8314463 10903974
MESH:D007674 Kidney Diseases Estradiol 10.3315618244
MESH:D007680 Kidney Neoplasms Cyclosporine 12.9212371664
MESH:D007680 Kidney Neoplasms Estradiol 12.9215610895
MESH:D007680 Kidney Neoplasms Tamoxifen 12.9218625569
MESH:D008064 Lipidoses Tamoxifen 3.2315342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.4914716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 3.4918564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.4912878042
MESH:D008107 Liver Diseases Acetaminophen 1.6519014921 11587558 19460945 16610002 19784758 12587719 12969438 16611625
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3417185352 16871587
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 7.5920195826 21137059
MESH:D008113 Liver Neoplasms Tamoxifen 7.5916684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.5916984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.1712151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.4018520028 20464547 20869020 18816296 17053015 18569708 20135361 6695378 20064080
MESH:D008175 Lung Neoplasms Tamoxifen 3.4018625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.4011884234 19555203
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.1814737004
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 3.9119428831
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 10.3811408345 11807958 16891317 17203775
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 10.3817203775 11408345
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 10.3816827153 11731420 19196723 14580682 19196722
MESH:D020149 Manganese Poisoning Estradiol 13.2419453300
MESH:D020149 Manganese Poisoning Tamoxifen 13.2419453300
MESH:D008545 Melanoma Tamoxifen 1.8919393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.3415990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7119513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.9616801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.2716381670
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1112213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.3616810080
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.5819393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5519410462
MESH:D009369 Neoplasms Benzo(a)pyrene 2.2211141357
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.1719196722 19189210 19200415
MESH:D009389 Neovascularization, Pathologic Estradiol 3.8917289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.6217954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.3818481113 19348381
MESH:D009421 Nervous System Malformations Estradiol 9.8911399458 16427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 9.8914600291
MESH:D009447 Neuroblastoma Topotecan 3.9015176712
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9618514411
MESH:D010051 Ovarian Neoplasms Estradiol 4.9719401270
MESH:D010051 Ovarian Neoplasms Progesterone 4.9716525653 17393432
MESH:D010146 Pain Acetaminophen 2.4816870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8011578682
MESH:D010300 Parkinson Disease tolcapone 3.637566641 16758261 18328768 20216409 10651109 1977408 19578428 9305320 11793426 9708959 9333106 9591521 11746615 8635184 20334432 19783845 17089403 11586115 11432539 9754991 8739811
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6918163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.3212371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.3411896295 11222880 11399792 11118676
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 3.9920887781
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.0417292933
MESH:D011471 Prostatic Neoplasms Estradiol 2.0416740699
MESH:D011471 Prostatic Neoplasms Sodium Selenite 2.0418760546
MESH:D011471 Prostatic Neoplasms Tamoxifen 2.0415067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.4715861022 16919318
MESH:D011565 Psoriasis Cyclosporine 2.2616882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9618990726
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.8918045962
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 9.6819755658 10029692
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 9.688532709
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 9.6816192470
MESH:D013088 Spermatocele Ethinyl Estradiol 12.1516709447
MESH:D013088 Spermatocele Tamoxifen 12.1516709447
MESH:D013119 Spinal Cord Injuries Progesterone 11.3916503802 15862959
MESH:D013119 Spinal Cord Injuries Tamoxifen 11.3919457130
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.5620155912 2093021
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2515669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0812697716
MESH:D013978 Tibial Fractures Estradiol 4.8619048282
MESH:D018088 Tuberculosis, Multidrug-Resistant tolcapone 6.1219578428
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.1317053015
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 5.1317572228 8653321 16712894
MESH:D014581 Urticaria Acetaminophen 3.0910982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.4214692618
MESH:D014605 Uveitis Cyclosporine 4.161336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7712125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6514671159 15869587
MESH:D014820 Vitiligo tolcapone 5.3210573327
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4215886252
MESH:D014985 Xerophthalmia Cyclosporine 4.6217120751
Pathway ID Pathway Name
REACT:27235 Meiotic Recombination (mouse)
KEGG:05322 Systemic lupus erythematosus
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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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