AutismKB 2.0

Annotation Detail for DIAPH3


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Basic Information Top
Gene Symbol:DIAPH3 ( DKFZp434C0931,DKFZp686A13178,DRF3,FLJ34705,diap3,mDia2 )
Gene Full Name: diaphanous homolog 3 (Drosophila)
Band: 13q21.2
Quick LinksEntrez ID:81624; OMIM: NA; Uniprot ID:DIAP3_HUMAN; ENSEMBL ID: ENSG00000139734; HGNC ID: 15480
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04810Regulation of actin cytoskeleton
No data
Pathway IDPathway Name
200113ErbB1 downstream signaling
200057CDC42 signaling events
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of DIAPH3 proteinaffects expression 20106945
C006632 arsenic trioxide arsenic trioxide results in increased expression of DIAPH3 mRNAincreases expression 20458559
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of DIAPH3 mRNAdecreases expression 20106945
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 DIAPH3 mRNAdecreases expression 19150397
20382639
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma arsenic trioxide 4.6111798837 19825857
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.6120464547 20127859
MESH:D000236 Adenoma Benzo(a)pyrene 2.866695378
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.6419183758
OMIM:609129 AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1 marker/mechanism
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 4.1016206674
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9917474063 20146248
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.7911589617
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 3.2412907637 12619106 21507988
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 3.2414691202 11135700 16217749 15073043 15553829
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.6019014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.5112490120
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1320419170
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.9820889678
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8620501625
MESH:D023903 Coronary Restenosis arsenic trioxide 4.6912609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 1.8910525206
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.5615213294
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.6920426865
MESH:D004938 Esophageal Neoplasms arsenic trioxide 7.6912903497
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 7.6916530937
MESH:D005234 Fatty Liver arsenic trioxide 3.7115073043
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.7716904648
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.8320471113
MESH:D007938 Leukemia arsenic trioxide 3.0015070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 4.2212560223 17077332
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.9416972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.7214633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 4.1919077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 2.1916467208 20471514 17050201 19850784 16968895
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.4617107899 17217047 16112521 19225113 16823087 19035177 17649720 11468182 12712474 19642359 17712046 15336539 9834237 12679006 19075265 16966277 17869043 16331271 15622746 16330433 16891316 11161223 15213294 12018890 15748426
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.8616882451
MESH:D008113 Liver Neoplasms Aflatoxin B1 8.199163691 15890375 18177683 2125692
MESH:D008113 Liver Neoplasms arsenic trioxide 8.1914682389
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 8.1921137059 20195826
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 6.808603461
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 6.8020377131
MESH:D008133 Long QT Syndrome arsenic trioxide 3.6615213294
MESH:D008175 Lung Neoplasms Aflatoxin B1 3.6314755239
MESH:D008175 Lung Neoplasms arsenic trioxide 3.6319825857 11798837
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.6318569708 18816296 20464547 6695378 20869020 18520028 20064080 17053015 20135361
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.5016381670
MESH:D009101 Multiple Myeloma arsenic trioxide 3.3819417148 11468182 15949261 14977855 19549372
MESH:D009182 Mycosis Fungoides arsenic trioxide 5.4018349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 3.3416882451 16105982
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.4716624393
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3311141357
MESH:D009436 Neural Tube Defects arsenic trioxide 3.3610525206
MESH:D010051 Ovarian Neoplasms arsenic trioxide 2.5016624393 19769630 12452020
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.6315580305
MESH:D010235 Paraganglioma arsenic trioxide 4.6319927285
MESH:D011471 Prostatic Neoplasms arsenic trioxide 3.0919131511
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.0917292933
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.4716646077
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.5210029692 19755658
MESH:D013274 Stomach Neoplasms arsenic trioxide 2.4417007042
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.4420155912 2093021
MESH:D013964 Thyroid Neoplasms arsenic trioxide 3.3919014326
MESH:D016171 Torsades de Pointes arsenic trioxide 4.5915213294
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 5.4611780464 20435036 12845720 12973940
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.4617053015
Pathway ID Pathway Name
KEGG:04810 Regulation of actin cytoskeleton
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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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