AutismKB 2.0

Annotation Detail for ECT2L


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Basic Information Top
Gene Symbol:ECT2L ( ARHGEF32,C6orf91,FBXO49,LFDH,dJ509I19.2,dJ509I19.3,dJ509I19.5 )
Gene Full Name: epithelial cell transforming sequence 2 oncogene-like
Band: 6q24.1
Quick LinksEntrez ID:345930; OMIM: NA; Uniprot ID:ECT2L_HUMAN; ENSEMBL ID: ENSG00000203734; HGNC ID: 21118
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult4 / 19391212
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P942346
  • 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
Amygdala2.23 ± 1.1
Basal Forebrain1.73 ± 0.22
Basal Part of Pons1.4 ± 0.36
Cerebellar Cortex1.55 ± 0.7
Cerebellar Nuclei2.02 ± 0.81
Claustrum2.64 ± 0.88
Epithalamus3.5 ± 1.36
Frontal Lobe1.57 ± 0.7
Globus Pallidus2.29 ± 0.42
Hypothalamus1.77 ± 0.73
Insula1.73 ± 0.44
Limbic Lobe1.75 ± 0.66
Mesencephalon1.88 ± 0.66
Myelencephalon1.79 ± 0.8
Occipital Lobe1.83 ± 0.67
Parietal Lobe1.76 ± 0.72
Pontine Tegmentum1.79 ± 0.73
Striatum2.13 ± 0.81
Subthalamus1.77 ± 0.54
Temporal Lobe1.64 ± 0.72
Thalamus1.64 ± 0.54
White Matter2.38 ± 0.47
Mouse Brain ISH
Peptide 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