AutismKB 2.0

Annotation Detail for SPEF1


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Basic Information Top
Gene Symbol:SPEF1 ( C20orf28,CLAMP,DKFZp434I114,SPEF1A )
Gene Full Name: sperm flagellar 1
Band: 20p13
Quick LinksEntrez ID:25876; OMIM: 610674; Uniprot ID:SPEF1_HUMAN; ENSEMBL ID: ENSG00000101222; HGNC ID: 15874
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
14Phosphotyrosine(Jak)HMM predict
56Phosphotyrosine(INSR)HMM predict
81N-linkedHMM predict
83Phosphoserine(ATM)HMM predict
136Phosphotyrosine(INSR)HMM predict
136Phosphotyrosine(Syk)HMM predict
160Phosphoserine(CAMK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015417
  • Location:chr20 3706151-3710101
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 3709838 3710658 820 147
P300 T0-glioblastomaGSE21026 3709631 3710584 953 6
P300 T30-glioblastomaGSE21026 3709643 3710756 1113 98
hScc1 BcellGSE12603 3710076 3710492 416 183
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 3709776 3710424 648 0
H3K4me2 HCT116GSE10453 3709176 3710008 832 0
H3ac HepG2E 3709099 3710315 1216 0
TAF HelaGSE8489 3709099 3709680 581 0
USF2 HepG2E 3709814 3710315 501 0
hScc1 BcellGSE12603 3706796 3707755 959 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