AutismKB 2.0

Annotation Detail for CELA1


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Basic Information Top
Gene Symbol:CELA1 ( ELA1 )
Gene Full Name: chymotrypsin-like elastase family, member 1
Band: 12q13.13
Quick LinksEntrez ID:1990; OMIM: 130120; Uniprot ID:CELA1_HUMAN; ENSEMBL ID: ENSG00000139610; HGNC ID: 3308
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
79N-linked (GlcNAc...) (Potential).
233N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001971
  • Location:chr12 50008493-50026729
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TAF HelaGSE8489 50006788 50007333 545 1433
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 50021400 50021846 446 0
CTCF CD4SISSRdata 50021400 50021846 446 0
CTCF G2GSE9613 50019860 50020080 220 0
CTCF G2GSE9613 50021274 50021858 584 0
FOXA1 MCF7GSE15244 50016896 50017166 270 0
Nanog hESGSE18292 50021568 50021778 210 0
RARA MCF7GSE15244 50021344 50021700 356 0
Sox2 hESGSE18292 50021502 50021966 464 0
hScc1 BcellGSE12603 50021202 50021858 656 0
hScc1 CdLSGSE12603 50021058 50021930 872 0
hScc1 G2GSE9613 50021058 50021858 800 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