AutismKB 2.0

Annotation Detail for NCSTN


View Evidences View Variants View Annotations
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
Post Translation Modification Top
Location(AA) Modification
45N-linked (GlcNAc...).
55N-linked (GlcNAc...) (Potential).
187N-linked (GlcNAc...).
200N-linked (GlcNAc...) (Potential).
204N-linked (GlcNAc...) (Potential).
264N-linked (GlcNAc...) (Potential).
387N-linked (GlcNAc...).
417N-linked (GlcNAc...) (Potential).
435N-linked (GlcNAc...) (Potential).
464N-linked (GlcNAc...) (Potential).
506N-linked (GlcNAc...) (Potential).
530N-linked (GlcNAc...) (Potential).
562N-linked (GlcNAc...) (Potential).
573N-linked (GlcNAc...) (Potential).
580N-linked (GlcNAc...) (Potential).
612N-linked (GlcNAc...).
Location(AA) Modifications Resource
45N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
55N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
187N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
200N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
204N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
264N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
387N-linked (GlcNAc...).Swiss-Prot 53.0
417N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
435N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
464N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
506N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
530N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
562N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
573N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
580N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
612N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
8O-linkedHMM predict
41Phosphotyrosine(INSR)HMM predict
45N-linkedHMM predict
55N-linkedHMM predict
67Phosphoserine(ATM)HMM predict
94Phosphotyrosine(SRC)HMM predict
129Phosphoserine(CDC2)HMM predict
187N-linkedHMM predict
204N-linkedHMM predict
234Phosphoserine(PKA)HMM predict
235Phosphoserine(IKK)HMM predict
264N-linkedHMM predict
373Phosphoserine(CK1)HMM predict
417N-linkedHMM predict
419Phosphoserine(ATM)HMM predict
453Phosphotyrosine(EGFR)HMM predict
457Phosphotyrosine(Syk)HMM predict
464N-linkedHMM predict
506N-linkedHMM predict
530N-linkedHMM predict
531N-linkedHMM predict
562N-linkedHMM predict
563O-linkedHMM predict
573N-linkedHMM predict
580N-linkedHMM predict
602SulfotyrosineHMM predict
612N-linkedHMM predict
632Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015331
  • Location:chr1 158579686-158595364
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 158599034 158599770 736 4038
TAF k562GSE8489 158598573 158598933 360 3389
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 158590798 158591089 291 0
CTCF CD4SISSRdata 158590798 158591089 291 0
CTCF G2GSE9613 158590802 158591153 351 0
GABP k562GSE8489 158578256 158581362 3106 0
H3K4me3 colorectalcancer 158578766 158581004 2238 0
H3ac HepG2E 158579050 158581151 2101 0
PHF8 HeLaGSE20725 158578960 158580458 1498 0
TAF k562GSE8489 158580037 158581362 1325 0
TAFII hESGSE17917 158579430 158580050 620 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
1803 mRNA NCSTN chr1 157126134 157141811 180 mRNA COPA chr1 157072134 157126528Sense/Antisense (SA) pairs

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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved