AutismKB 2.0

Annotation Detail for HIRA


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Basic Information Top
Gene Symbol:HIRA ( DGCR1,TUP1,TUPLE1 )
Gene Full Name: HIR histone cell cycle regulation defective homolog A (S. cerevisiae)
Band: 22q11.21
Quick LinksEntrez ID:7290; OMIM: 600237; Uniprot ID:HIRA_HUMAN; ENSEMBL ID: ENSG00000100084,ENSG00000242259; HGNC ID: 4916
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000638 Amiodarone Amiodarone results in increased expression of HIRA mRNAincreases expression 19774075
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of HIRA mRNAdecreases expression 20498004
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 HIRA mRNAdecreases expression 19150397
D001710 Biotin Biotin results in decreased expression of HIRA mRNAdecreases expression 15219929
D002251 Carbon Tetrachloride Carbon Tetrachloride affects the expression of HIRA mRNAaffects expression 17484886
D004052 Diethylnitrosamine Diethylnitrosamine results in increased expression of HIRA mRNAincreases expression 17942915
D004052 Diethylnitrosamine MET protein inhibits the reaction [Diethylnitrosamine results in increased expression of HIRA mRNA]decreases reaction|increases expression 17942915
D004958 Estradiol Estradiol results in increased expression of HIRA mRNAincreases expression 15223131
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of HIRA mRNAdecreases expression 17101203
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1811752688 15322242 14514962
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.4520127859 20464547
MESH:D000230 Adenocarcinoma Estradiol 4.4511473722
MESH:D000236 Adenoma Benzo(a)pyrene 7.066695378
MESH:D000236 Adenoma Diethylnitrosamine 7.0610737359 6695378
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 11.2117162532 19052882 16434500 19061943 18056438 17620307
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.2116835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1711748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.3819183758
MESH:D001145 Arrhythmias, Cardiac Amiodarone 4.0320041841 18218290 18057881
MESH:D001281 Atrial Fibrillation Amiodarone 4.0818651412 19698954
MESH:D001778 Blood Coagulation Disorders Amiodarone 9.8719483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.8712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1715340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9115746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9420146248 17474063
MESH:D001943 Breast Neoplasms Diethylnitrosamine 1.9417474063
MESH:D001943 Breast Neoplasms Estradiol 1.9417289903 18497071 12948864 19861407 17261762 17018787 14630087 16675129
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9420435547
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.8016111702
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 4.0816050911 15673190 16192424 15721981 18705752 15700767 10355542 16227642 16097048 3786805 16124888 16011737
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9916835633
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 4.7618788625
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 4.7610737359 17173139 11831363 20727157 18691550 18506893 16779866 16288022 16540662 18393292 16830150 16935385 17428255 17055752 18665156 3084413 20935162 19919837 19418558 18210153 18056438 19052882 21159647 17138121 20007298 20214788 16698587 17978847 20524982 19701751 20432363 20514400 19519916 17761372 20084675 16502159 3581430 10672840 19335982 16328049 19394651 19171122 18971187 19208518 18785209 18788625 19822196 16569478 16681979 19539802 16807293 19107877 20101231 16878318 19383236 20512989 18978308 18494052 17162532
MESH:D006528 Carcinoma, Hepatocellular Estradiol 4.7616924424
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1020419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4918850075 18670907 16120746
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.9615710769 19225199
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.4218974383
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 12.1320889678
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 12.1317174075 2727394 21159647 7505956
MESH:D002471 Cell Transformation, Neoplastic Estradiol 12.1318566989
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 10.0519052882
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 10.0516835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1915668235 8697196 12621046 15340226 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2714669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 15322242 20055451
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 4.3820387270
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.3817107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.6319279558
MESH:D056486 Drug-Induced Liver Injury Amiodarone 9.5018218290 15265979
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 9.507440962 7179309 16177239 7120509 19085960 3732212 16227642 10092053 21278145 6884620 15968718 11566570 17522070 15027814 9327722 19336974 2869522 15998439 4309450 3786805 10915739 6623471
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 9.5019107877
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.5020420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9311462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2818230668 15322242 16714409
MESH:D016889 Endometrial Neoplasms Estradiol 3.1311473722 18566989 19148513
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.259294722 10568697
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.4916302075
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.5220426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.5216530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1911564622
MESH:D005234 Fatty Liver Amiodarone 14.6514986274
MESH:D005234 Fatty Liver Carbon Tetrachloride 14.6561145 12631006 12795759 15959796 16239168 19224547 17595544 16045604
MESH:D005234 Fatty Liver Diethylnitrosamine 14.6520387270 21071580
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D005355 Fibrosis Carbon Tetrachloride 9.6418705752
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.6420067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.8220471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.8211294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006505 Hepatitis Carbon Tetrachloride 3.8819900420 19110552
MESH:D006529 Hepatomegaly Amiodarone 9.5815265979
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.5815340226 12621046 16120746
MESH:D006558 Herpes Genitalis Estradiol 5.4115709030
MESH:D019584 Hot Flashes Estradiol 4.1317088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.428697196 16354765 15340226 16959395 18606429
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.8716899240
MESH:D006937 Hypercholesterolemia Amiodarone 4.128137927 9751232
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9818670907 18850075
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.3915338365
MESH:D007037 Hypothyroidism Amiodarone 4.8217991464 18020914
MESH:D007249 Inflammation Diethylnitrosamine 5.2718785209
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.2712200463 12878042
MESH:D007333 Insulin Resistance Estradiol 3.1116393666 16627594
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5816580747
MESH:D007674 Kidney Diseases Estradiol 2.7115618244
MESH:D007680 Kidney Neoplasms Estradiol 3.1815610895
MESH:D008064 Lipidoses Amiodarone 3.6815342952 17567588
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 7.0116943688 11903743 11408273 21278145 16239168 17334410 16221502 17157831 17174718
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 7.0120032147 19638242 18522880 18407596 18665156
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 3.5612632514 17976157 17481882 14716833 17698563 17900296 16248980 18418968 16015684 18263696 12898905 11481614 17557913 15876570 15931870 17640975 18251166 20821823 12389079 12445421 18006644 12741479 12666154 15052691 14716496 15893842 18277467 16192424 12445418 12958196 18395095 15650968 14620537 15996030 17869086 15959796 18420326 14724832 15370692 12632512 17708605 17631135 15730626 13678700 14748882 17944888 18472094 18317297 18054572 16116963 14512876 15057751 17761835 18705752 15673190 16097048 16011737 17766677 18412020 16033810 15818738 18187930 12649538 17565644 17805973 18156304 17922224 18166357 16136751 18481824 18472332 12667390 18376398 17525996 18210741 15123356 12609069 17721639 17714472 15362042 15925388 18339082 16638106 16027843 17823541 10355542 15338365 18205269 12546737 12586293 18395914 18429990 18279442
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.5614716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.5612878042
MESH:D008107 Liver Diseases Carbon Tetrachloride 4.2415830285 15720792 16964402 16246199 17285989
MESH:D008107 Liver Diseases Diethylnitrosamine 4.2417034775
MESH:D017093 Liver Failure Carbon Tetrachloride 4.4715123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.9214706259 16899240
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 11.3421137059 20195826
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 11.3419294768
MESH:D008113 Liver Neoplasms Diethylnitrosamine 11.3420434301 20452335 21167192 18754104 19850985 15175105 15885732 18977376 9163691 20101389 19996281 12771043 19833225 21278145 18978307 19294768 19551842 19499222 19256749 19690152 19073162 18648771 19255062 18644402 20583210 12112319 16942905 20137499 20118626 19638242 2422723 19426721 20501860 19254457 2862719 19812893 20405173 19642983 20492335 10737359 21071580 19090486 21047994 19427195
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 11.3416984957
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 10.6312014681 15583823
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 10.6317174075 18079962 19004024 18775883 18253720 19539802 2563599 18544905 19126423 19009564 18164116 16267830 18093689 18308698 9362446 16842330 17942915 21159647 3124819 17854601 19519916 18282651
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.6312151625
MESH:D008133 Long QT Syndrome Amiodarone 3.7617391786 15350150 11989578
MESH:D008171 Lung Diseases Amiodarone 3.5312587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 4.8518516814
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.4720464547 18520028 18816296 20869020 18569708 17053015 20135361 20064080 6695378
MESH:D008175 Lung Neoplasms Diethylnitrosamine 3.4720970405 21163286 6695378 20512841
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.4711884234 19555203
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.7011807958 16891317 11408345 17203775
MESH:D020149 Manganese Poisoning Estradiol 4.8619453300
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3716381670
MESH:D009181 Mycoses Amiodarone 5.2812754197 17974566
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2112213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.4616810080
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.653581430 9029167
MESH:D009369 Neoplasms Benzo(a)pyrene 2.2711141357
MESH:D009389 Neovascularization, Pathologic Estradiol 4.0717289903
MESH:D009421 Nervous System Malformations Estradiol 10.4216427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.4214600291
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 3.5420387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.4920387270
MESH:D010051 Ovarian Neoplasms Estradiol 2.2819401270
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.4916540662
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8418163543
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.772563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5311896295 11222880 11118676 11399792
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.1320887781
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.0517292933
MESH:D011471 Prostatic Neoplasms Estradiol 3.0516740699
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.9312490602 12832656 11597910
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.4218724381
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.8010029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.8016192470
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.382093021 20155912
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 2.3818456281
MESH:D013276 Stomach Ulcer Amiodarone 3.5518087811
MESH:D013610 Tachycardia Amiodarone 4.5711238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.4719225199
MESH:D013959 Thyroid Diseases Amiodarone 13.3419731979
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 13.3412697716
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.167505956
MESH:D013971 Thyrotoxicosis Amiodarone 5.1718020914 19584973
MESH:D013978 Tibial Fractures Estradiol 5.0619048282
MESH:D016171 Torsades de Pointes Amiodarone 4.5311989578 17467628
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2517053015
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9712125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
No data
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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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