AutismKB 2.0

Annotation Detail for ELSPBP1


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Basic Information Top
Gene Symbol:ELSPBP1 ( E12,EDDM12,HE12 )
Gene Full Name: epididymal sperm binding protein 1
Band: 19q13.33
Quick LinksEntrez ID:64100; OMIM: 607443; Uniprot ID:ESPB1_HUMAN; ENSEMBL ID: ENSG00000169393; HGNC ID: 14417
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
195N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_022142
  • Location:chr19 53189742-53220214
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 53201837 53202190 353 0
TAF k562GSE8489 53217613 53217799 186 0
hScc1 BcellGSE12603 53214931 53215195 264 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-124 hsa-mir-124-1 8 19389351
hsa-miR-124 hsa-mir-124-2 8 19389351
hsa-miR-124 hsa-mir-124-3 20 19389351
hsa-miR-124 hsa-mir-124-1 8 18997113
hsa-miR-124 hsa-mir-124-2 8 18997113
hsa-miR-124 hsa-mir-124-3 20 18997113
hsa-miR-183 hsa-mir-183 7 19389351
hsa-miR-183* hsa-mir-183 7 19389351
hsa-miR-223 hsa-mir-223 X 20802470
hsa-miR-223* hsa-mir-223 X 20802470
hsa-miR-449a hsa-mir-449a 5 19056356
hsa-miR-449b hsa-mir-449b 5 19056356
hsa-miR-495 hsa-mir-495 14 21258409
hsa-miR-9 hsa-mir-9-1 1 18997113
hsa-miR-9 hsa-mir-9-2 5 18997113
hsa-miR-9 hsa-mir-9-3 15 18997113
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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