AutismKB 2.0

Annotation Detail for SH2D1B


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Basic Information Top
Gene Symbol:SH2D1B ( EAT2 )
Gene Full Name: SH2 domain containing 1B
Band: 1q23.3
Quick LinksEntrez ID:117157; OMIM: 608510; Uniprot ID:SH21B_HUMAN; ENSEMBL ID: ENSG00000198574; HGNC ID: 30416
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 
adult5 / 19391212
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P324533
  • 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
Amygdala2.51 ± 1.09
Basal Forebrain2.02 ± 0.21
Basal Part of Pons1.7 ± 0.4
Cerebellar Cortex1.73 ± 0.65
Cerebellar Nuclei2.32 ± 0.68
Claustrum2.8 ± 0.63
Epithalamus1.74 ± 0.81
Frontal Lobe2.38 ± 0.84
Globus Pallidus2.27 ± 0.47
Hypothalamus2.19 ± 0.8
Insula2.07 ± 0.76
Limbic Lobe2.13 ± 0.68
Mesencephalon2.21 ± 0.77
Myelencephalon2.08 ± 0.75
Occipital Lobe1.82 ± 0.53
Parietal Lobe2.05 ± 0.69
Pontine Tegmentum2.1 ± 0.68
Striatum1.82 ± 0.53
Subthalamus2.16 ± 0.64
Temporal Lobe1.77 ± 0.69
Thalamus1.99 ± 0.64
White Matter2.16 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sh2d1b1CBCerebellum21.65
31.4
Sh2d1b1CTXCerebral cortex9.11
6.29
Sh2d1b1HIPHippocampal region2.09
1.92
Sh2d1b1HPFHippocampal formation7.5
6.57
Sh2d1b1HYHypothalamus4.67
3.27
Sh2d1b1LSXLateral septal complex3
3.66
Sh2d1b1MBMidbrain6.93
6.36
Sh2d1b1MYMedulla17.96
16.84
Sh2d1b1OLFOlfactory bulb17.38
15.32
Sh2d1b1PPons10.99
11.02
Sh2d1b1PALPallidum1.5
1.06
Sh2d1b1RHPRetrohippocampal region18.23
14.37
Sh2d1b1sAMYStriatum-like amygdalar nuclei1.18
1.06
Sh2d1b1STRStriatum4.88
3.65
Sh2d1b1STRdStriatum dorsal region6.01
4.51
Sh2d1b1STRvStriatum ventral region4.13
2.44
Sh2d1b1THThalamus2.2
1.8
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