AutismKB 2.0

Annotation Detail for HPS6


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Basic Information Top
Gene Symbol:HPS6 ( FLJ22501,MGC20522,RP11-302K17.1 )
Gene Full Name: Hermansky-Pudlak syndrome 6
Band: 10q24.32
Quick LinksEntrez ID:79803; OMIM: 607522; Uniprot ID:HPS6_HUMAN; ENSEMBL ID: ENSG00000166189; HGNC ID: 18817
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
H00166Hermansky-Pudlak syndrome
Inherited disorders of amino acid metabolism
Genetic disorders
No data
No data
No data
Desease Name
Hermansky-Pudlak syndrome 6
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of HPS6 mRNAdecreases expression 20127859
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0820127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.926695378
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.9819183758
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9820146248 17474063
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1620419170
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.1016530937
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.8920471113
MESH:D022861 Hermanski-Pudlak Syndrome marker/mechanism
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 2.1920195826 21137059
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 1.5717053015 20464547 20869020 18569708 20064080 18816296 18520028 20135361 6695378
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.6216381670
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3811141357
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.8917292933
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.5719755658 10029692
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.3317053015
No data
Pharmacogenomics Knowledge Base Top
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  (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