AutismKB 2.0

Annotation Detail for EFS


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Basic Information Top
Gene Symbol:EFS ( CAS3,CASS3,EFS1,EFS2,HEFS,SIN )
Gene Full Name: embryonal Fyn-associated substrate
Band: 14q11.2
Quick LinksEntrez ID:10278; OMIM: 609906; Uniprot ID:EFS_HUMAN; ENSEMBL ID: ENSG00000100842; HGNC ID: 16898
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
253Phosphotyrosine; by SRC (By similarity).
311SH3-binding (Potential).
341SH3-binding (Potential).
Location(AA) Modifications Resource
253Phosphotyrosine (by SRC) (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
20Phosphoserine(CDC2)HMM predict
47S-palmitoylHMM predict
75O-linkedHMM predict
77Phosphoserine(CDK)HMM predict
77O-linkedHMM predict
77Phosphoserine(ATM)HMM predict
77Phosphoserine(CDC2)HMM predict
80O-linkedHMM predict
80Phosphoserine(CDC2)HMM predict
80Phosphoserine(IKK)HMM predict
86Phosphoserine(CDC2)HMM predict
94Phosphoserine(CK2)HMM predict
101Phosphotyrosine(Syk)HMM predict
112O-linkedHMM predict
112O-linkedHMM predict
123Phosphoserine(CDC2)HMM predict
148Phosphotyrosine(Syk)HMM predict
163Phosphotyrosine(INSR)HMM predict
168Phosphoserine(CDK)HMM predict
188Phosphotyrosine(Syk)HMM predict
188Phosphotyrosine(Jak)HMM predict
193Phosphothreonine(CDC2)HMM predict
193PhosphothreonineHMM predict
193Phosphothreonine(MAPK)HMM predict
193Phosphothreonine(CDK)HMM predict
217Phosphotyrosine(INSR)HMM predict
253Phosphotyrosine(Syk)HMM predict
265Phosphoserine(MAPK)HMM predict
265O-linkedHMM predict
265Phosphoserine(IKK)HMM predict
265Phosphoserine(CDC2)HMM predict
265Phosphoserine(ATM)HMM predict
265Phosphoserine(CDK)HMM predict
287O-linkedHMM predict
287Phosphoserine(CDK)HMM predict
287Phosphoserine(ATM)HMM predict
287Phosphoserine(CDC2)HMM predict
317Phosphoserine(CDC2)HMM predict
317O-linkedHMM predict
317Phosphoserine(CDK)HMM predict
319Phosphoserine(CDC2)HMM predict
319O-linkedHMM predict
319Phosphoserine(CDK)HMM predict
319Phosphoserine(ATM)HMM predict
323O-linkedHMM predict
323Phosphoserine(CDC2)HMM predict
331Phosphoserine(PKA)HMM predict
372Phosphotyrosine(Syk)HMM predict
381SulfotyrosineHMM predict
383SulfotyrosineHMM predict
421Phosphoserine(MAPK)HMM predict
421Phosphoserine(CDC2)HMM predict
421Phosphoserine(ATM)HMM predict
532Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005864
  • Location:chr14 22895451-22904681
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 22904411 22905084 673 66
H3K27me3 colorectalcancer 22905873 22906629 756 1570
Myc hESGSE17917 22904703 22905035 332 188
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 22899670 22899826 156 0
CTCF CD4SISSRdata 22899670 22899826 156 0
CTCF G2GSE9613 22899493 22899838 345 0
TFAP2C MCF7GSE21234 22903190 22903695 505 0
hScc1 BcellGSE12603 22903733 22904867 1134 0
p130 QuiescentGSE19898 22901109 22901345 236 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-542-5p hsa-mir-542 X 20473924
No data
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


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