AutismKB 2.0

Annotation Detail for BHLHE22


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Basic Information Top
Gene Symbol:BHLHE22 ( BHLHB5,Beta3,CAGL85,TNRC20 )
Gene Full Name: basic helix-loop-helix family, member e22
Band: 8q12.3
Quick LinksEntrez ID:27319; OMIM: 613483; Uniprot ID:BHE22_HUMAN; ENSEMBL ID: ENSG00000180828; HGNC ID: 11963
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 
fetus16 / 56401228
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult7 / 19391213
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor5 / 26384518
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal27 / 33603078
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain18 / 110098916
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye3 / 21105414
heart0 / 896260 
intestine1 / 2344724
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P402194
  • 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
Amygdala9.16 ± 1.45
Basal Forebrain6.25 ± 0.44
Basal Part of Pons6.65 ± 0.33
Cerebellar Cortex8.63 ± 0.59
Cerebellar Nuclei8.35 ± 0.92
Claustrum6.2 ± 0.65
Epithalamus5.84 ± 0.26
Frontal Lobe6.93 ± 0.7
Globus Pallidus6.07 ± 0.35
Hypothalamus6.64 ± 0.88
Insula7.95 ± 1.1
Limbic Lobe8.59 ± 1.14
Mesencephalon7.12 ± 0.87
Myelencephalon7.32 ± 1
Occipital Lobe9.09 ± 1.83
Parietal Lobe7.27 ± 0.96
Pontine Tegmentum7.32 ± 0.92
Striatum5.68 ± 0.94
Subthalamus6.75 ± 0.08
Temporal Lobe7.61 ± 0.93
Thalamus6.48 ± 0.61
White Matter6.28 ± 0.12
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Bhlhb5CBCerebellum100
100
Bhlhb5CTXCerebral cortex100
100
Bhlhb5HIPHippocampal region100
100
Bhlhb5HPFHippocampal formation100
100
Bhlhb5HYHypothalamus100
100
Bhlhb5LSXLateral septal complex100
95.31
Bhlhb5MBMidbrain100
100
Bhlhb5MYMedulla100
100
Bhlhb5OLFOlfactory bulb100
100
Bhlhb5PPons100
100
Bhlhb5PALPallidum100
96.5
Bhlhb5RHPRetrohippocampal region100
100
Bhlhb5sAMYStriatum-like amygdalar nuclei100
100
Bhlhb5STRStriatum100
100
Bhlhb5STRdStriatum dorsal region100
100
Bhlhb5STRvStriatum ventral region100
100
Bhlhb5THThalamus100
100
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