AutismKB 2.0

Annotation Detail for CPNE6


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Basic Information Top
Gene Symbol:CPNE6 ( N-COPINE )
Gene Full Name: copine VI (neuronal)
Band: 14q11.2
Quick LinksEntrez ID:9362; OMIM: 605688; Uniprot ID:CPNE6_HUMAN; ENSEMBL ID: ENSG00000100884; HGNC ID: 2319
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
65Phosphoserine (By similarity).
Location(AA) Modifications Resource
65Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
50Phosphoserine(CK1)HMM predict
65Phosphoserine(IKK)HMM predict
68Phosphoserine(CDC2)HMM predict
100Phosphoserine(CDC2)HMM predict
103N-linkedHMM predict
124Phosphothreonine(PKA)HMM predict
153Phosphotyrosine(EGFR)HMM predict
170Phosphoserine(CK1)HMM predict
201N-linkedHMM predict
213Phosphoserine(IKK)HMM predict
233Phosphoserine(ATM)HMM predict
298SulfotyrosineHMM predict
323Phosphoserine(CK1)HMM predict
323Phosphoserine(ATM)HMM predict
460Phosphoserine(PKG)HMM predict
536Phosphoserine(ATM)HMM predict
540Phosphoserine(ATM)HMM predict
540Phosphoserine(CDC2)HMM predict
546ProlineHMM predict
552Phosphothreonine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006032
  • Location:chr14 23610595-23617134
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 23610614 23610882 268 0
CTCF G2GSE9613 23611463 23611826 363 0
CTCF G2GSE9613 23614311 23614645 334 0
hScc1 BcellGSE12603 23610499 23610955 456 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