AutismKB 2.0

Annotation Detail for EFCAB5


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Basic Information Top
Gene Symbol:EFCAB5 ( DKFZp434G2420,DKFZp686I0638,FLJ46247 )
Gene Full Name: EF-hand calcium binding domain 5
Band: 17q11.2
Quick LinksEntrez ID:374786; OMIM: NA; Uniprot ID:EFCB5_HUMAN; ENSEMBL ID: ENSG00000176927; HGNC ID: 24801
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
77Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_198529
  • Location:chr17 25292811-25459594
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 25455721 25456089 368 0
CTCF CD4SISSRdata 25455721 25456089 368 0
CTCF G2GSE9613 25444506 25445059 553 0
CTCF G2GSE9613 25455622 25456078 456 0
Oct1 H2O2-HelaGSE14283 25439206 25439246 40 0
Oct1 HelaGSE14283 25439206 25439244 38 0
Rb shRbSenescenceGSE19898 25455854 25456067 213 0
TAFII hESGSE17917 25455727 25456050 323 0
hScc1 BcellGSE12603 25444474 25445095 621 0
hScc1 BcellGSE12603 25455544 25456114 570 0
hScc1 CdLSGSE12603 25444127 25445095 968 0
hScc1 CdLSGSE12603 25455330 25456331 1001 0
hScc1 G2GSE9613 25444474 25445095 621 0
p130 shRbSenescentGSE19898 25455717 25456213 496 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
10883 mRNA FLJ46247 chr17 25320326 25459595 224 EST chr17 25441509 25468641Sense/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