AutismKB 2.0

Annotation Detail for DMBX1


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Basic Information Top
Gene Symbol:DMBX1 ( MBX,OTX3,PAXB )
Gene Full Name: diencephalon/mesencephalon homeobox 1
Band: 1p33
Quick LinksEntrez ID:127343; OMIM: 607410; Uniprot ID:DMBX1_HUMAN; ENSEMBL ID: ENSG00000197587; HGNC ID: 19026
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_702_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
Amygdala2.42 ± 1.05
Basal Forebrain1.83 ± 0.23
Basal Part of Pons1.65 ± 0.37
Cerebellar Cortex2.02 ± 0.83
Cerebellar Nuclei2.29 ± 0.67
Claustrum2.92 ± 1.01
Epithalamus1.64 ± 0.72
Frontal Lobe1.91 ± 0.66
Globus Pallidus2.4 ± 0.36
Hypothalamus1.94 ± 0.61
Insula2.06 ± 0.93
Limbic Lobe1.96 ± 0.66
Mesencephalon2.23 ± 0.71
Myelencephalon2.08 ± 0.68
Occipital Lobe2.11 ± 0.66
Parietal Lobe2.1 ± 0.76
Pontine Tegmentum2.09 ± 0.73
Striatum2.12 ± 0.53
Subthalamus2.06 ± 0.69
Temporal Lobe1.96 ± 0.73
Thalamus2.24 ± 0.61
White Matter2.79 ± 0.59
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Dmbx1CBCerebellum1.83
1.91
Dmbx1CTXCerebral cortex0.9
0.73
Dmbx1HIPHippocampal region0.69
0.46
Dmbx1HPFHippocampal formation0.75
0.53
Dmbx1HYHypothalamus0.3
0.46
Dmbx1LSXLateral septal complex0.49
0.34
Dmbx1MBMidbrain0.77
1.21
Dmbx1MYMedulla2.3
2.41
Dmbx1OLFOlfactory bulb2.31
2.19
Dmbx1PPons0.51
0.58
Dmbx1PALPallidum0.45
0.25
Dmbx1RHPRetrohippocampal region0.72
0.56
Dmbx1sAMYStriatum-like amygdalar nuclei1.38
1.48
Dmbx1STRStriatum0.43
0.39
Dmbx1STRdStriatum dorsal region0.17
0.19
Dmbx1STRvStriatum ventral region0.92
0.57
Dmbx1THThalamus0.25
0.24
Peptide Top

Simple Query:


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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