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
Unigene EST Top
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16518_PI416261804
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala4.07 ± 0.86
Basal Forebrain3.89 ± 0.42
Basal Part of Pons4.05 ± 1.25
Cerebellar Cortex4.04 ± 0.65
Cerebellar Nuclei3.64 ± 0.5
Claustrum4.12 ± 0.6
Epithalamus3.38 ± 0.44
Frontal Lobe3.78 ± 0.65
Globus Pallidus4.4 ± 0.85
Hypothalamus3.8 ± 0.5
Insula3.99 ± 0.33
Limbic Lobe3.89 ± 0.69
Mesencephalon3.77 ± 0.55
Myelencephalon3.92 ± 0.67
Occipital Lobe3.95 ± 0.66
Parietal Lobe3.79 ± 0.7
Pontine Tegmentum3.77 ± 0.58
Striatum3.77 ± 0.64
Subthalamus4.1 ± 1.17
Temporal Lobe3.83 ± 0.69
Thalamus3.79 ± 0.63
White Matter4.04 ± 0.6
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ela1CBCerebellum2.54
4
Ela1CTXCerebral cortex13.19
9.2
Ela1HIPHippocampal region10.57
10.83
Ela1HPFHippocampal formation10.98
10.01
Ela1HYHypothalamus15.73
11.65
Ela1LSXLateral septal complex5.5
4.1
Ela1MBMidbrain8.08
8.51
Ela1MYMedulla18.08
25.13
Ela1OLFOlfactory bulb22.92
16.89
Ela1PPons24.05
26.69
Ela1PALPallidum15.85
12.33
Ela1RHPRetrohippocampal region11.41
8.34
Ela1sAMYStriatum-like amygdalar nuclei17.87
12.66
Ela1STRStriatum13.44
9.35
Ela1STRdStriatum dorsal region13.02
9.15
Ela1STRvStriatum ventral region14.53
9.16
Ela1THThalamus18.52
14.23
Peptide Top

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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