AutismKB 2.0

Annotation Detail for CAMSAP1


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Basic Information Top
Gene Symbol:CAMSAP1 ( DKFZp434F195,DKFZp434G2311,FLJ31228,MGC163452,PRO2405,bA100C15.1 )
Gene Full Name: calmodulin regulated spectrin-associated protein 1
Band: 9q34.3
Quick LinksEntrez ID:157922; OMIM: NA; Uniprot ID:CAMP1_HUMAN; ENSEMBL ID: ENSG00000130559; HGNC ID: 19946
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
371Phosphoserine.
375Phosphoserine.
512Phosphothreonine.
563Phosphoserine.
575Phosphoserine.
583Phosphoserine.
589Phosphoserine.
722Phosphoserine.
738Phosphoserine.
740Phosphoserine.
864Phosphoserine.
1080Phosphoserine.
1537Phosphotyrosine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015447
  • Location:chr9 137841247-137914563
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 137918487 137919247 760 4304
Rb QuiescentGSE19898 137919899 137920023 124 5398
TFAP2C MCF7GSE21234 137921558 137922501 943 7466
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 137834856 137835052 196 6294
hScc1 BcellGSE12603 137837357 137837811 454 3664
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 137896101 137896487 386 0
CTCF CD4SISSRdata 137896101 137896487 386 0
HIF1 HypoHepG2 137867679 137868700 1021 0
hScc1 BcellGSE12603 137844653 137844837 184 0
hScc1 BcellGSE12603 137848310 137848509 199 0
hScc1 BcellGSE12603 137867679 137867933 254 0
hScc1 BcellGSE12603 137888218 137888552 334 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