AutismKB 2.0

Annotation Detail for EFCAB2


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Basic Information Top
Gene Symbol:EFCAB2 ( FLJ33608,MGC12458 )
Gene Full Name: EF-hand calcium binding domain 2
Band: 1q44
Quick LinksEntrez ID:84288; OMIM: NA; Uniprot ID:EFCB2_HUMAN; ENSEMBL ID: ENSG00000203666; HGNC ID: 28166
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
35Phosphoserine(IKK)HMM predict
49Phosphoserine(CDC2)HMM predict
57O-linkedHMM predict
59Phosphoserine(CDK)HMM predict
59Phosphoserine(CDC2)HMM predict
67O-linkedHMM predict
68O-linkedHMM predict
69MethylarginineHMM predict
72Phosphoserine(CDC2)HMM predict
72O-linkedHMM predict
74MethylarginineHMM predict
81Phosphothreonine(MAPK)HMM predict
91Phosphoserine(ATM)HMM predict
102Phosphothreonine(PKC)HMM predict
105Phosphothreonine(PKA)HMM predict
167N-linkedHMM predict
168N-linkedHMM predict
206Phosphotyrosine(EGFR)HMM predict
206Phosphotyrosine(INSR)HMM predict
256Phosphotyrosine(INSR)HMM predict
257MethionineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_032328
  • Location:chr1 243200314-243317760
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 243199232 243199631 399 883
Myc K562GSE19551 243182723 243183183 460 17362
p130 shRbQuiescentGSE19898 243193751 243194766 1015 6056
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 243325013 243325158 145 7325
CTCF G2GSE9613 243337008 243337977 969 19732
Fos K562GSE19551 243321673 243322408 735 4280
H3ac HepG2E 243333244 243333560 316 15642
SRF GMOGSE8489 243336015 243336203 188 18349
SRF HepG2GSE8489 243336015 243336203 188 18349
TAF k562GSE8489 243318365 243320313 1948 1579
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 243272525 243272901 376 0
CTCF CD4SISSRdata 243272525 243272901 376 0
CTCF JurkatGSE12889 243272693 243272959 266 0
CTCF G2GSE9613 243199882 243201257 1375 0
CTCF G2GSE9613 243249910 243250162 252 0
CTCF G2GSE9613 243272541 243273047 506 0
CTCF G2GSE9613 243281328 243281633 305 0
CTCF G2GSE9613 243309007 243309651 644 0
FoxA1 MCF7MACSdata 243275461 243275730 269 0
H3K4me3 colorectalcancer 243201514 243201961 447 0
H3ac HepG2E 243201292 243202342 1050 0
Nanog hESGSE18292 243257437 243257674 237 0
Nanog hESGSE18292 243289885 243290568 683 0
Oct4 hESGSE17917 243272677 243272893 216 0
P300 T0-glioblastomaGSE21026 243290520 243291193 673 0
PHF8 293TGSE20725 243199454 243201818 2364 0
PHF8 HeLaGSE20725 243199407 243201476 2069 0
PHF8 Hs68plusFBSGSE20725 243199372 243201711 2339 0
TAF HelaGSE8489 243200809 243202306 1497 0
TAF k562GSE8489 243200929 243202342 1413 0
TFAP2C MCF7GSE21234 243200277 243201188 911 0
hScc1 BcellGSE12603 243200076 243201407 1331 0
hScc1 BcellGSE12603 243249910 243250266 356 0
hScc1 BcellGSE12603 243272541 243273047 506 0
hScc1 CdLSGSE12603 243272402 243273047 645 0
hScc1 CdLSGSE12603 243309007 243309446 439 0
hScc1 G2GSE9613 243199763 243200973 1210 0
hScc1 G2GSE9613 243272402 243273047 645 0
hScc1 G2GSE9613 243309007 243309726 719 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
2614 mRNA MGC12458 chr1 241459732 241577179 54 mRNA chr1 241458701 241460431Sense/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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