AutismKB 2.0

Annotation Detail for KIAA1598


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Basic Information Top
Gene Symbol:KIAA1598 ( DKFZp686A0439,MGC40476,SHOOTIN1,shootin-1 )
Gene Full Name: KIAA1598
Band: 10q25.3
Quick LinksEntrez ID:57698; OMIM: 611171; Uniprot ID:SHOT1_HUMAN; ENSEMBL ID: ENSG00000187164; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Axon guidance
No data
No data
Pathway IDPathway Name
500098Recycling pathway of L1
Related Diseases/Disorders Top
No data
No data
Desease Name
nonsyndromic cleft lip with or without cleft palate
CARDIOVASCULAR
DEVELOPMENTAL
Heart Failure
Desease Name
Nonsyndromic cleft lip with or without cleft palate
Heart failure
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C006632 arsenic trioxide arsenic trioxide results in increased expression of KIAA1598 mRNAincreases expression 20458559
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of KIAA1598 mRNAdecreases expression 20064835
D018038 Sodium Selenite Sodium Selenite results in increased expression of KIAA1598 mRNAincreases expression 18175754
D014635 Valproic Acid Valproic Acid results in increased expression of KIAA1598 mRNAincreases expression 19101580
D014747 Vinblastine KIAA1598 protein affects the susceptibility to Vinblastineaffects response to substance 16217747
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 4.028875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.3019490988
MESH:D000230 Adenocarcinoma arsenic trioxide 4.5919825857 11798837
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.5920127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.846695378
MESH:D000550 Amblyopia Valproic Acid 5.8517688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.8617497229
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.5619183758
MESH:D001321 Autistic Disorder Valproic Acid 1.9818775368 18558336 18396377 17507914 17157402 18985861 19460635 18316065 17688650 15238991 18940202 20603192 18177632 19232924 16609825
MESH:D001714 Bipolar Disorder Valproic Acid 3.2320046352 17594078
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 4.0416206674
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.618888407
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0020146248 17474063
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.7311589617
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 1.9811135700 16217749 15073043 14691202 15553829
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.4919014326
MESH:D002292 Carcinoma, Renal Cell Vinblastine 3.921485588
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.4712490120
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1320419170
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8120734317
MESH:D019457 Chromosome Breakage Sodium Selenite 5.2415894690
MESH:D015179 Colorectal Neoplasms arsenic trioxide 2.8920501625
MESH:D015179 Colorectal Neoplasms Vinblastine 2.8918802399
MESH:D023903 Coronary Restenosis arsenic trioxide 4.6312609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 2.7810525206
MESH:D019465 Craniofacial Abnormalities Valproic Acid 2.7817688650 16575769 8888407
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.5015213294
MESH:D003920 Diabetes Mellitus Sodium Selenite 4.1016285004
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 4.3215131321
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 4.321733752 19641884
MESH:D004421 Dystonia Valproic Acid 4.451851702
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.6417275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.533922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.0920417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.917562514 6254150 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.787750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.603659116
MESH:D004938 Esophageal Neoplasms arsenic trioxide 4.6812903497
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.6816530937
MESH:D005234 Fatty Liver arsenic trioxide 9.1815073043
MESH:D005234 Fatty Liver Valproic Acid 9.1819224547 14986274
MESH:D005315 Fetal Diseases Valproic Acid 5.5016575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.578888407 18558336
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.7016904648
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.8220471113
MESH:D006689 Hodgkin Disease Vinblastine 4.3518180244 18501091
MESH:D006849 Hydrocephalus Valproic Acid 5.4117688650
MESH:D007333 Insulin Resistance Sodium Selenite 3.4914714311
MESH:D007938 Leukemia arsenic trioxide 2.9815070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 4.1712560223 17077332
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.8516972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.6914633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 4.1319077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 4.0816467208 20471514 16968895 17050201 19850784
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 4.0817596541 16294345
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.4311468182 12018890 9834237 16331271 19642359 11161223 17712046 17649720 19035177 15748426 16891316 15622746 15213294 16966277 17107899 15336539 19075265 16330433 12712474 17217047 16112521 12679006 16823087 17869043 19225113
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.7916882451
MESH:D008113 Liver Neoplasms arsenic trioxide 4.9314682389
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.9321137059 20195826
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 2.9320377131
MESH:D008133 Long QT Syndrome arsenic trioxide 3.6215213294
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.8717228818
MESH:D008175 Lung Neoplasms arsenic trioxide 2.4911798837 19825857
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.4920464547 6695378 18569708 20135361 18816296 20064080 18520028 20869020 17053015
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.4614737004
MESH:D008545 Melanoma Vinblastine 2.9418505091 18176117 16248763 15577320 17761969 12374674 16809738 18332650 16432458 15577323
MESH:D008881 Migraine Disorders Valproic Acid 3.4418803445 18765137
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4616381670
MESH:D009101 Multiple Myeloma arsenic trioxide 3.3515949261 19417148 19549372 11468182 14977855
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.408888407
MESH:D009182 Mycosis Fungoides arsenic trioxide 5.2818349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 8.0216882451 16105982
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 8.0217596541
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.4016624393
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3111141357
MESH:D009436 Neural Tube Defects arsenic trioxide 8.0610525206
MESH:D009436 Neural Tube Defects Valproic Acid 8.0616359493 8888407
MESH:D009503 Neutropenia Vinblastine 4.9717378895
MESH:D010051 Ovarian Neoplasms arsenic trioxide 2.4919769630 12452020 16624393
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.6215580305
MESH:D010235 Paraganglioma arsenic trioxide 4.5719927285
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.3720603192
MESH:D011471 Prostatic Neoplasms arsenic trioxide 2.5019131511
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.5017292933
MESH:D011471 Prostatic Neoplasms Sodium Selenite 2.5018760546
MESH:D019310 Pseudolymphoma Valproic Acid 5.1512752131 11422049
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.5819155313
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.4016646077
MESH:D012559 Schizophrenia Valproic Acid 2.1019110320 15737665
MESH:D012640 Seizures Valproic Acid 2.963137016 11738929 11044598 16876388 1511512 17978042 14763951 15475178
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.5119755658 10029692
MESH:D016135 Spinal Dysraphism Valproic Acid 4.0619490988
MESH:D013226 Status Epilepticus Valproic Acid 5.1512833885
MESH:D013274 Stomach Neoplasms arsenic trioxide 2.4317007042
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.4320155912 2093021
MESH:D013964 Thyroid Neoplasms arsenic trioxide 3.3619014326
MESH:D016171 Torsades de Pointes arsenic trioxide 4.5015213294
MESH:D014178 Translocation, Genetic Valproic Acid 5.8517262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 5.063119515
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 5.4220435036 12973940 11780464 12845720
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.4217053015
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.138888407
MESH:D014625 Vaginal Neoplasms Vinblastine 5.5315577323
Pathway ID Pathway Name
REACT:18266 Axon guidance
Pharmacogenomics Knowledge Base 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


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