AutismKB 2.0

Annotation Detail for NCSTN


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Basic Information Top
Gene Symbol:NCSTN ( APH2,KIAA0253 )
Gene Full Name: nicastrin
Band: 1q23.2
Quick LinksEntrez ID:23385; OMIM: 605254; Uniprot ID:NICA_HUMAN; ENSEMBL ID: ENSG00000162736; HGNC ID: 17091
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05010Alzheimer's disease
hsa04330Notch signaling pathway
Pathway IDPathway Name
Signalling by NGF
Signaling by Notch
Pathway IDPathway Name
200013Notch signaling pathway
200170Syndecan-3-mediated signaling events
200103p75(NTR)-mediated signaling
200052Presenilin action in Notch and Wnt signaling
Pathway IDPathway Name
P00003Alzheimer disease-amyloid secretase pathway
P00004Alzheimer disease-presenilin pathway
P00045Notch signaling pathway
No data
Related Diseases/Disorders Top
No data
No data
Desease Name
Alzheimer's disease
NEUROLOGICAL
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of NCSTN mRNAaffects expression 21346803
D000643 Ammonium Chloride Ammonium Chloride results in decreased expression of NCSTN proteindecreases expression 16483693
C051890 irinotecan NCSTN protein affects the susceptibility to irinotecanaffects response to substance 19147571
D007530 Isoflurane Isoflurane results in increased expression of NCSTN proteinincreases expression 17287498
C030110 oxaliplatin NCSTN protein affects the susceptibility to oxaliplatinaffects response to substance 19147571
C030110 oxaliplatin oxaliplatin results in increased expression of NCSTN proteinincreases expression 19147571
C025643 vinclozolin vinclozolin results in increased methylation of NCSTN promoterincreases methylation 16973722
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.0218287403
MESH:D000544 Alzheimer Disease marker/mechanism 17192785
MESH:D001008 Anxiety Disorders vinclozolin 3.8919015723
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 1.7816705839
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 2.986135515
MESH:D003110 Colonic Neoplasms irinotecan 4.4717725105 17287894
MESH:D003110 Colonic Neoplasms oxaliplatin 4.4716510598 16004971 16024531
MESH:D015179 Colorectal Neoplasms irinotecan 3.1315273666 18509181 16303861 17159606 18259882 17454858 16391804
MESH:D015179 Colorectal Neoplasms oxaliplatin 3.1317401013 17695437 18509181 17255274 17594712 18448328
MESH:D003456 Cryptorchidism vinclozolin 4.7214966744
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.4418551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 2.0421346803 18551238
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.4016973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.8216417039
MESH:D006930 Hyperalgesia oxaliplatin 4.6017418472
MESH:D007022 Hypotension Isoflurane 5.2912967683
MESH:D007248 Infertility, Male vinclozolin 3.2416467254
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 3.2416705839
MESH:D007984 Leydig Cell Tumor vinclozolin 5.1916417039
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 2.247678174
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.722876784 2876786 6135515
MESH:D052016 Mucositis irinotecan 5.4717159606
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.3218551238 7678174
MESH:D009362 Neoplasm Metastasis irinotecan 3.2718259882
MESH:D009447 Neuroblastoma irinotecan 3.628761367
MESH:D017599 Neuroectodermal Tumors irinotecan 5.198761367
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.7416049721
MESH:D010538 Peritonitis Isoflurane 5.6417414419
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 4.3619015723 18042343 18220299
MESH:D011469 Prostatic Diseases vinclozolin 5.4018220299
MESH:D011472 Prostatitis vinclozolin 5.4018629315
MESH:D012640 Seizures 2,6-dinitrotoluene 2.7418551238
MESH:D018805 Sepsis Isoflurane 5.2617414419
MESH:D013274 Stomach Neoplasms irinotecan 2.3615723263
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.3916049721
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.7810091137
Pathway ID Pathway Name
KEGG:05010 Alzheimer's disease
KEGG:04330 Notch signaling pathway
REACT:299 Signaling by Notch
REACT:11061 Signalling by NGF
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA142671271
    • No data
    Releated disease ID Related disease Name
    PA443319Alzheimer Disease
    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


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