AutismKB 2.0

Annotation Detail for ASPSCR1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ASPSCR1 ( ASPCR1,ASPL,ASPS,FLJ45380,RCC17,TUG,UBXD9,UBXN9 )
Gene Full Name: alveolar soft part sarcoma chromosome region, candidate 1
Band: 17q25.3
Quick LinksEntrez ID:79058; OMIM: 606236; Uniprot ID:ASPC1_HUMAN; ENSEMBL ID: ENSG00000169696; HGNC ID: 13825
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
Cancers
Cancers of soft tissues and bone
H00051Alveolar soft part sarcoma
Desease IDDesease Name
2009Sarcoma
No data
No data
Desease Name
Alveolar soft-part sarcoma
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of ASPSCR1 mRNAdecreases expression 20106945
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of ASPSCR1 mRNAdecreases expression 15336504
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of ASPSCR1 mRNAdecreases expression 17606305
D010634 Phenobarbital NR1I3 protein affects the reaction [Phenobarbital results in increased expression of ASPSCR1 mRNA]affects reaction|increases expression 19482888
D010634 Phenobarbital Phenobarbital results in increased expression of ASPSCR1 mRNAincreases expression 19482888
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 4.076195326
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.6617505938
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.4420127859 20464547
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.4414692618
MESH:D000236 Adenoma Benzo(a)pyrene 2.866695378
MESH:D018248 Adenoma, Liver Cell Phenobarbital 4.6017620307
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.6419183758
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 4.0211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8915885639
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9917474063 20146248
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 1.9520007298 20935162 1701930 6705139 17173139
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1320419170
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.814080065
MESH:D002779 Cholestasis Ethinyl Estradiol 3.1715861022 11677210 17110522 16105132 17333356 17681005 16919318
MESH:D004421 Dystonia Phenobarbital 4.471851702
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.6912538720
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.673659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.593922381 11558140
MESH:D004827 Epilepsy Phenobarbital 3.0620417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.916401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.817750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.653659116
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0816530937
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.2415345470
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.8320471113
MESH:D006529 Hepatomegaly Phenobarbital 4.0416109766
MESH:D007021 Hypospadias Ethinyl Estradiol 4.3716945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.9212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7317937319
MESH:D008103 Liver Cirrhosis Phenobarbital 3.0821047994
MESH:D008107 Liver Diseases Phenobarbital 2.2419363144
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.9520195826 21137059
MESH:D008113 Liver Neoplasms Phenobarbital 4.9515975961 19482888 19073162 21047994 19812893 8742319
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 2.9217172636 1399818 18308698 6150874 2563599
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 1.5718569708 6695378 18816296 20135361 20869020 20464547 20064080 18520028 17053015
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.5016381670
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 5.1117484760
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3311141357
MESH:D010018 Osteomalacia Phenobarbital 5.0017016548
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.6016965848
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.1511578682
MESH:D011230 Precancerous Conditions Phenobarbital 3.992563599
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9117292933
MESH:D011537 Pruritus Ethinyl Estradiol 3.9416919318 15861022
MESH:D019310 Pseudolymphoma Phenobarbital 5.2212752131
MESH:D018234 Sarcoma, Alveolar Soft Part marker/mechanism
MESH:D012640 Seizures Phenobarbital 2.953137016 11442880 16876388 4039156
MESH:D003294 Seizures, Febrile Phenobarbital 5.456407741
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 6.2410029692 19755658
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 6.248532709
MESH:D013088 Spermatocele Ethinyl Estradiol 4.6616709447
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.5620155912 2093021
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.0811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.5215669648
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.361399818
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.3017053015
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.8014692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.9715869587 14671159
No data
Pharmacogenomics Knowledge Base Top
Drug Bank Top

Simple Query:


  (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