AutismKB 2.0

Annotation Detail for IKZF1


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Basic Information Top
Gene Symbol:IKZF1 ( Hs.54452,IK1,IKAROS,LYF1,PRO0758,ZNFN1A1,hIk-1 )
Gene Full Name: IKAROS family zinc finger 1 (Ikaros)
Band: 7p12.2
Quick LinksEntrez ID:10320; OMIM: 603023; Uniprot ID:IKZF1_HUMAN; ENSEMBL ID: ENSG00000185811; HGNC ID: 13176
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
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Pathway IDPathway Name
200039Calcineurin-regulated NFAT-dependent transcription in lymphocytes
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2051Leukemia
2103Lymphoproliferative disorder
2173Hematopoietic system disease
2188Bone marrow disease
2239Lymphoma
Desease Name
HEMATOLOGICAL
CANCER
systemic lupus erythematosus
IMMUNE
NEUROLOGICAL
mean corpuscular volume
hippocampal atrophy
Acute lymphoblastic leukemia (childhood)
Desease Name
Mean corpuscular volume
Hippocampal atrophy
Systemic lupus erythematosus
Acute lymphoblastic leukemia (childhood)
Desease Name
Leukemia, acute lymphoblastic
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of IKZF1 mRNAdecreases expression 20064835
D005038 Ethylnitrosourea Ethylnitrosourea results in increased mutagenesis of IKZF1 geneincreases mutagenesis 15790496
D008770 Methylnitrosourea Methylnitrosourea results in decreased expression of IKZF1 mRNAdecreases expression 16616109
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.9420127859 20464547
MESH:D000230 Adenocarcinoma Methylnitrosourea 4.9415113128 15688392
MESH:D000236 Adenoma Benzo(a)pyrene 7.726695378
MESH:D000236 Adenoma Ethylnitrosourea 7.726695378
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.7319183758
MESH:D001927 Brain Diseases Ethylnitrosourea 5.3314991843
MESH:D001932 Brain Neoplasms Ethylnitrosourea 4.7416357521 16651633 18412241 16436596 15144691
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.3917474063 20146248
MESH:D001943 Breast Neoplasms Methylnitrosourea 2.3914633655 16253758 11306469
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1420419170
MESH:D002386 Cataract Methylnitrosourea 4.2212484553
MESH:D002471 Cell Transformation, Neoplastic Ethylnitrosourea 8.3816003739
MESH:D002471 Cell Transformation, Neoplastic Methylnitrosourea 8.382727394 7505956
MESH:D016543 Central Nervous System Neoplasms Ethylnitrosourea 6.8517160924
MESH:D003093 Colitis, Ulcerative marker/mechanism 20228799
MESH:D004476 Ectodermal Dysplasia Ethylnitrosourea 6.8518357618
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0916530937
MESH:D005354 Fibrosarcoma Methylnitrosourea 5.9711555667
MESH:D005909 Glioblastoma Ethylnitrosourea 4.1016436596
MESH:D005910 Glioma Ethylnitrosourea 7.0718412241 16651633 16357521
MESH:D005910 Glioma Methylnitrosourea 7.079825942
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.8520471113
MESH:D007248 Infertility, Male Methylnitrosourea 4.077193160
MESH:D007680 Kidney Neoplasms Ethylnitrosourea 4.3217379185
MESH:D017880 Limb Deformities, Congenital Methylnitrosourea 4.5115526292
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 2.1721137059 20195826
MESH:D038061 Lower Extremity Deformities, Congenital Methylnitrosourea 6.1216080182
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.8618569708 20064080 20464547 18520028 18816296 20869020 6695378 17053015 20135361
MESH:D008175 Lung Neoplasms Ethylnitrosourea 3.8617703301 16019985 6695378 16271038
MESH:D008175 Lung Neoplasms Methylnitrosourea 3.8618062963
MESH:D008180 Lupus Erythematosus, Systemic marker/mechanism 19838193
MESH:D008223 Lymphoma marker/mechanism 11980663
MESH:D008223 Lymphoma Ethylnitrosourea 9.1615790496
MESH:D008223 Lymphoma Methylnitrosourea 9.1616257854 11418001
MESH:D016393 Lymphoma, B-Cell Methylnitrosourea 5.3014633661
MESH:D016399 Lymphoma, T-Cell Ethylnitrosourea 5.7015375218
MESH:D008325 Mammary Neoplasms, Experimental Ethylnitrosourea 7.5610838139 10767621 18041768
MESH:D008325 Mammary Neoplasms, Experimental Methylnitrosourea 7.5615113128 15688392 16619500 16944150 11807958 14999141 11751437 16051031 10767621 10838139 15313902 19196723 14633655 16827153 12931682 17020996 17131329
MESH:D008579 Meningioma Ethylnitrosourea 6.8517943659
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.5316381670
MESH:D009369 Neoplasms Benzo(a)pyrene 5.9411141357
MESH:D009369 Neoplasms Methylnitrosourea 5.9415533788
MESH:D009374 Neoplasms, Experimental Ethylnitrosourea 11.9416707424
MESH:D009374 Neoplasms, Experimental Methylnitrosourea 11.9412696579
MESH:D009442 Neurilemmoma Ethylnitrosourea 15.9016003739 17160924 16651423
MESH:D009442 Neurilemmoma Methylnitrosourea 15.9011555667
MESH:D009837 Oligodendroglioma Ethylnitrosourea 6.8517160924
MESH:D010190 Pancreatic Neoplasms Methylnitrosourea 3.4816965848
MESH:D054198 Precursor Cell Lymphoblastic Leukemia-Lymphoma marker/mechanism 19684604
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.3917292933
MESH:D011471 Prostatic Neoplasms Methylnitrosourea 3.3915682402 12376480
MESH:D012162 Retinal Degeneration Methylnitrosourea 4.7418155124 18172121
MESH:D012175 Retinoblastoma Methylnitrosourea 6.2311555667
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.5410029692 19755658
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.7520155912 2093021
MESH:D013274 Stomach Neoplasms Methylnitrosourea 2.7518593901 16257854 15930296
MESH:D013953 Thymus Neoplasms Ethylnitrosourea 14.9215790496
MESH:D013953 Thymus Neoplasms Methylnitrosourea 14.9211418001
MESH:D013964 Thyroid Neoplasms Methylnitrosourea 4.267505956 3078959
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.3117053015
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA37748
  • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    No data
    Drug Bank Top

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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