AutismKB 2.0

Annotation Detail for PSEN2


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Basic Information Top
Gene Symbol:PSEN2 ( AD3L,AD4,PS2,STM2 )
Gene Full Name: presenilin 2 (Alzheimer disease 4)
Band: 1q42.13
Quick LinksEntrez ID:5664; OMIM: 600759; Uniprot ID:PSN2_HUMAN; ENSEMBL ID: ENSG00000143801; HGNC ID: 9509
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
22Phosphoserine.
25Phosphoserine.
30Phosphoserine (By similarity).
416PAL.
Location(AA) Modifications Resource
7Phosphoserine (CK2
9Phosphoserine (CK2
19Phosphoserine (CK2
327Phosphoserine (CK1 delta)Phospho.ELM 6.0
330Phosphoserine (CK1 delta;CK)Phospho.ELM 6.0
335Phosphoserine (CK2
Location(AA) Modification Resource
25Phosphoserine(CDK)HMM predict
27O-linkedHMM predict
27Phosphothreonine(MAPK)HMM predict
311Phosphoserine(ATM)HMM predict
328Phosphotyrosine(EGFR)HMM predict
328Phosphotyrosine(Syk)HMM predict
328SulfotyrosineHMM predict
336Phosphotyrosine(EGFR)HMM predict
386N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000447
  • Location:chr1 225125582-225150419
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog ESGSE20650 225117732 225118155 423 7639
Nanog hESGSE18292 225117889 225118242 353 7517
Rb GrowingGSE19898 225124655 225124825 170 843
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 225166951 225167190 239 16651
CTCF CD4SISSRdata 225166951 225167190 239 16651
hScc1 CdLSGSE12603 225166987 225167524 537 16836
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 225140802 225141102 300 0
Fos K562GSE19551 225130079 225130597 518 0
H3K4me3 colorectalcancer 225125795 225126076 281 0
H3ac HepG2E 225125795 225126007 212 0
TFAP2C MCF7GSE21234 225130172 225130594 422 0
hScc1 BcellGSE12603 225144971 225145180 209 0
p130 QuiescentGSE19898 225130022 225130200 178 0
Validated miRNA targets Top
Cis-Nats regulation 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