AutismKB 2.0

Annotation Detail for EFCAB6


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Basic Information Top
Gene Symbol:EFCAB6 ( DJBP,FLJ23588,HSCBCIP1,KIAA1672,dJ185D5.1 )
Gene Full Name: EF-hand calcium binding domain 6
Band: 22q13.2-q13.31
Quick LinksEntrez ID:64800; OMIM: NA; Uniprot ID:EFCB6_HUMAN; ENSEMBL ID: ENSG00000186976; HGNC ID: 24204
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
283Phosphoserine (By similarity).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_198856
  • Location:chr22 42255986-42539450
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 42539307 42539776 469 91
P300 T30-glioblastomaGSE21026 42539294 42540220 926 307
PHF8 293TGSE20725 42539037 42540093 1056 115
PHF8 HeLaGSE20725 42538935 42540391 1456 213
PHF8 Hs68plusFBSGSE20725 42538895 42540328 1433 161
Rb shRbQuiescentGSE19898 42540308 42540558 250 983
p130 QuiescentGSE19898 42539461 42540238 777 399
p130 shRbQuiescentGSE19898 42539569 42540397 828 533
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 42248894 42249416 522 6832
hScc1 BcellGSE12603 42253699 42254351 652 1962
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 42316332 42316704 372 0
CBP T30-glioblastomaGSE21026 42351813 42352329 516 0
CBP T30-glioblastomaGSE21026 42516375 42517565 1190 0
CTCF JurkatGSE12889 42264331 42264563 232 0
CTCF G2GSE9613 42341801 42342161 360 0
CTCF G2GSE9613 42523874 42524349 475 0
FOXA1 MCF7GSE15244 42293382 42293909 527 0
FOXA1 MCF7GSE15244 42351418 42352114 696 0
NFkBII GM12878GSE19485 42529601 42531074 1473 0
Nanog ESGSE20650 42329951 42330624 673 0
Nanog hESGSE18292 42433565 42433906 341 0
Oct4 ESGSE20650 42433520 42433832 312 0
P300 T30-glioblastomaGSE21026 42351780 42352393 613 0
P300 T30-glioblastomaGSE21026 42504295 42505163 868 0
P300 T30-glioblastomaGSE21026 42516228 42517559 1331 0
RARA MCF7GSE15244 42293077 42293909 832 0
RARG MCF7GSE15244 42293274 42293948 674 0
STAT1 HeLaGSE12782 42301531 42302739 1208 0
STAT1 HeLaGSE12783 42301582 42302430 848 0
STAT1 IFNSISSRdata 42301909 42302448 539 0
Sox2 hESGSE18292 42523960 42524152 192 0
TFAP2C MCF7GSE21234 42267873 42268245 372 0
TFAP2C MCF7GSE21234 42270118 42270552 434 0
TFAP2C MCF7GSE21234 42293193 42293633 440 0
TFAP2C MCF7GSE21234 42461903 42462226 323 0
TFAP2C MCF7GSE21234 42478111 42478532 421 0
TFAP2C MCF7GSE21234 42504391 42504862 471 0
hScc1 BcellGSE12603 42271000 42271308 308 0
hScc1 BcellGSE12603 42467086 42467430 344 0
p130 QuiescentGSE19898 42538986 42539220 234 0
p130 SenescentGSE19898 42538820 42539261 441 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
17568 mRNA chr22 42237034 42257386 20 mRNA FLJ23588 chr22 42249554 42533019Sense/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


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