AutismKB 2.0

Annotation Detail for CPNE9


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Basic Information Top
Gene Symbol:CPNE9 ( KIAA4217 )
Gene Full Name: copine family member IX
Band: 3p25.3
Quick LinksEntrez ID:151835; OMIM: NA; Uniprot ID:CPNE9_HUMAN; ENSEMBL ID: ENSG00000144550; HGNC ID: 24336
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
95N-linked (GlcNAc...).
Location(AA) Modifications Resource
95N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
10Phosphoserine(CK1)HMM predict
10Phosphoserine(IKK)HMM predict
32Phosphoserine(CK1)HMM predict
47Phosphoserine(ATM)HMM predict
95N-linkedHMM predict
281Phosphoserine(ATM)HMM predict
299N-linkedHMM predict
321Phosphotyrosine(INSR)HMM predict
497SerineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_153635
  • Location:chr3 9720509-9746590
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 9720247 9720671 424 51
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 9732542 9733090 548 0
CTCF HelaGSE12889 9732477 9732752 275 0
CTCF G2GSE9613 9721423 9722556 1133 0
CTCF G2GSE9613 9732536 9732859 323 0
CTCF G2GSE9613 9743293 9743464 171 0
CTCF G2GSE9613 9743855 9744594 739 0
CTCF G2GSE9613 9746056 9746414 358 0
Fos K562GSE19551 9732247 9733106 859 0
Myc K562GSE19551 9732352 9732984 632 0
NRSF JurkatGSE13047 9720737 9721348 611 0
NRSF-mono JurkatQuESTdata 9720440 9721260 820 0
NRSF-poly JurkatQuESTdata 9720801 9721770 969 0
hScc1 BcellGSE12603 9720281 9720884 603 0
hScc1 CdLSGSE12603 9743764 9744263 499 0
hScc1 G2GSE9613 9720247 9721003 756 0
hScc1 G2GSE9613 9732536 9732897 361 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