AutismKB 2.0

Annotation Detail for ASH2L


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Basic Information Top
Gene Symbol:ASH2L ( ASH2,ASH2L1,ASH2L2,Bre2 )
Gene Full Name: ash2 (absent, small, or homeotic)-like (Drosophila)
Band: 8p11.23
Quick LinksEntrez ID:9070; OMIM: 604782; Uniprot ID:ASH2L_HUMAN; ENSEMBL ID: ENSG00000129691; HGNC ID: 744
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 body2 / 7076128
blastocyst5 / 6231980
fetus91 / 564012161
neonate4 / 31097128
infant1 / 2362042
juvenile11 / 55556197
adult152 / 193912178
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor13 / 94178138
cervical tumor4 / 34366116
chondrosarcoma2 / 8282324
colorectal tumor2 / 11424617
esophageal tumor5 / 17290289
gastrointestinal tumor8 / 11936967
germ cell tumor76 / 263845288
glioma11 / 106883102
head and neck tumor6 / 13630244
kidney tumor8 / 68959116
leukemia10 / 95842104
liver tumor7 / 9635972
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal367 / 3360307109
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS19 / 125680151
prostate cancer6 / 10268058
retinoblastoma4 / 4635686
skin tumor7 / 12494956
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland1 / 3319730
ascites5 / 40015124
bladder3 / 29757100
blood18 / 123478145
bone8 / 71655111
bone marrow5 / 48801102
brain152 / 1100989138
cervix4 / 4817183
connective tissue4 / 14925526
ear2 / 16212123
embryonic tissue15 / 21572269
esophagus5 / 20209247
eye11 / 21105452
heart7 / 8962678
intestine9 / 23447238
kidney32 / 211777151
larynx1 / 2414541
liver11 / 20774352
lung17 / 33697450
lymph0 / 442700 
lymph node6 / 9161065
mammary gland16 / 153271104
mouth9 / 67052134
muscle6 / 10771555
nerve0 / 157680 
ovary1 / 1020519
pancreas9 / 21481241
parathyroid4 / 20539194
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta18 / 28082564
prostate17 / 18934589
salivary gland2 / 2015599
skin18 / 21057485
spleen12 / 53952222
stomach4 / 9661941
testis60 / 330442181
thymus9 / 81131110
thyroid0 / 474730 
tonsil0 / 169990 
trachea8 / 52413152
umbilical cord0 / 136800 
uterus13 / 23287855
vascular9 / 51780173
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209517_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts128.9
Adipocyte39.05
AdrenalCortex24.85
Adrenalgland19.65
Amygdala34.8
Appendix29.55
AtrioventricularNode25.05
BDCA4+_DentriticCells103.1
Bonemarrow71.8
BronchialEpithelialCells32.3
CD105+_Endothelial160.35
CD14+_Monocytes92.8
CD19+_BCells(neg._sel.)85.75
CD33+_Myeloid114.15
CD34+177.9
CD4+_Tcells54.75
CD56+_NKCells120.7
CD71+_EarlyErythroid313.1
CD8+_Tcells67
CardiacMyocytes35.8
Caudatenucleus25.1
Cerebellum27
CerebellumPeduncles36.15
CiliaryGanglion17.65
CingulateCortex27.3
Colorectaladenocarcinoma16.55
DorsalRootGanglion20.3
FetalThyroid25.35
Fetalbrain25.8
Fetalliver52.3
Fetallung29.8
GlobusPallidus20.6
Heart28.05
Hypothalamus54.5
Kidney19.25
Leukemia_chronicMyelogenousK-562172.95
Leukemia_promyelocytic-HL-6027.8
Leukemialymphoblastic(MOLT-4)65.5
Liver27.55
Lung26.25
Lymphnode27.1
Lymphoma_burkitts(Daudi)55.6
Lymphoma_burkitts(Raji)30.25
MedullaOblongata27.7
OccipitalLobe34.75
OlfactoryBulb26.45
Ovary17.55
Pancreas19.55
PancreaticIslet26.75
ParietalLobe28.85
Pituitary36.1
Placenta32.15
Pons30.9
PrefrontalCortex57.45
Prostate31.45
Salivarygland22.25
SkeletalMuscle57.65
Skin20.55
SmoothMuscle31.55
Spinalcord32.9
SubthalamicNucleus20.4
SuperiorCervicalGanglion34.8
TemporalLobe26.9
Testis80.3
TestisGermCell80.05
TestisIntersitial62.3
TestisLeydigCell43.5
TestisSeminiferousTubule54.75
Thalamus31.5
Thymus30.05
Thyroid39.35
Tongue25.35
Tonsil30.85
Trachea19.3
TrigeminalGanglion27.05
Uterus30.8
UterusCorpus52.3
WholeBlood53.65
Wholebrain42.5
colon28.3
pineal_day39.08
pineal_night43.96
retina40.75
small_intestine26
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P134827
  • 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
Amygdala7.44 ± 0.52
Basal Forebrain7.93 ± 0.16
Basal Part of Pons8.22 ± 0.21
Cerebellar Cortex8.11 ± 0.19
Cerebellar Nuclei7.86 ± 0.24
Claustrum7.58 ± 0.63
Epithalamus7.63 ± 0.32
Frontal Lobe8.03 ± 0.31
Globus Pallidus7.27 ± 0.21
Hypothalamus8.35 ± 0.32
Insula8.12 ± 0.24
Limbic Lobe7.74 ± 0.42
Mesencephalon7.83 ± 0.33
Myelencephalon7.86 ± 0.45
Occipital Lobe7.47 ± 0.5
Parietal Lobe7.86 ± 0.35
Pontine Tegmentum7.86 ± 0.41
Striatum7.28 ± 0.39
Subthalamus8.3 ± 0.12
Temporal Lobe8.09 ± 0.31
Thalamus7.91 ± 0.39
White Matter7.77 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ash2lCBCerebellum96.12
100
Ash2lCTXCerebral cortex100
100
Ash2lHIPHippocampal region100
100
Ash2lHPFHippocampal formation100
100
Ash2lHYHypothalamus100
100
Ash2lLSXLateral septal complex100
100
Ash2lMBMidbrain100
100
Ash2lMYMedulla100
100
Ash2lOLFOlfactory bulb100
100
Ash2lPPons99.68
100
Ash2lPALPallidum100
100
Ash2lRHPRetrohippocampal region100
100
Ash2lsAMYStriatum-like amygdalar nuclei100
100
Ash2lSTRStriatum100
100
Ash2lSTRdStriatum dorsal region100
100
Ash2lSTRvStriatum ventral region100
100
Ash2lTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ASH2L_HUMAN_389 10 389 398 APQLKISDDR PRIDE
PAp00003652 26 475 500 HYSSGYGQGDVLGFYINLPEDTETAK Peptide Atlas

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


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