AutismKB 2.0

Annotation Detail for ASH1L


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Basic Information Top
Gene Symbol:ASH1L ( ASH1,ASH1L1,FLJ10504,KIAA1420,KMT2H )
Gene Full Name: ash1 (absent, small, or homeotic)-like (Drosophila)
Band: 1q22
Quick LinksEntrez ID:55870; OMIM: 607999; Uniprot ID:ASH1L_HUMAN; ENSEMBL ID: ENSG00000116539; HGNC ID: 19088
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
blastocyst0 / 623190 
fetus44 / 56401278
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult80 / 193912141
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor11 / 94178116
cervical tumor1 / 3436629
chondrosarcoma4 / 8282348
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor11 / 26384541
glioma6 / 10688356
head and neck tumor9 / 13630266
kidney tumor0 / 689590 
leukemia6 / 9584262
liver tumor4 / 9635941
lung tumor2 / 10312719
lymphoma1 / 7175513
non-neoplasia3 / 9725030
normal174 / 336030751
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites1 / 4001524
bladder3 / 29757100
blood2 / 12347816
bone6 / 7165583
bone marrow0 / 488010 
brain55 / 110098949
cervix2 / 4817141
connective tissue3 / 14925520
ear1 / 1621261
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye4 / 21105418
heart3 / 8962633
intestine5 / 23447221
kidney4 / 21177718
larynx1 / 2414541
liver20 / 20774396
lung19 / 33697456
lymph1 / 4427022
lymph node11 / 91610120
mammary gland12 / 15327178
mouth6 / 6705289
muscle3 / 10771527
nerve0 / 157680 
ovary2 / 10205119
pancreas17 / 21481279
parathyroid0 / 205390 
pharynx6 / 41328145
pituitary gland1 / 1658560
placenta8 / 28082528
prostate5 / 18934526
salivary gland0 / 201550 
skin8 / 21057437
spleen1 / 5395218
stomach2 / 9661920
testis7 / 33044221
thymus4 / 8113149
thyroid3 / 4747363
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus10 / 23287842
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218554_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.05
Adipocyte7.3
AdrenalCortex7.85
Adrenalgland6.2
Amygdala7.1
Appendix9.05
AtrioventricularNode5.3
BDCA4+_DentriticCells6.4
Bonemarrow7.6
BronchialEpithelialCells6.5
CD105+_Endothelial6.75
CD14+_Monocytes7.3
CD19+_BCells(neg._sel.)7.25
CD33+_Myeloid8.5
CD34+8.1
CD4+_Tcells7.35
CD56+_NKCells7.9
CD71+_EarlyErythroid6.6
CD8+_Tcells6.85
CardiacMyocytes11.7
Caudatenucleus7.9
Cerebellum6.55
CerebellumPeduncles9.15
CiliaryGanglion4.95
CingulateCortex9.35
Colorectaladenocarcinoma6.95
DorsalRootGanglion5.35
FetalThyroid6.85
Fetalbrain7.05
Fetalliver6.3
Fetallung5.3
GlobusPallidus5.2
Heart8.9
Hypothalamus8.35
Kidney6.8
Leukemia_chronicMyelogenousK-5626.2
Leukemia_promyelocytic-HL-606.2
Leukemialymphoblastic(MOLT-4)5.7
Liver10.45
Lung7.3
Lymphnode6.7
Lymphoma_burkitts(Daudi)9.2
Lymphoma_burkitts(Raji)10.4
MedullaOblongata6.4
OccipitalLobe6.1
OlfactoryBulb5.4
Ovary5.05
Pancreas5.6
PancreaticIslet7.45
ParietalLobe9.75
Pituitary11.05
Placenta7
Pons7.7
PrefrontalCortex8.85
Prostate8
Salivarygland8.4
SkeletalMuscle11.85
Skin5.35
SmoothMuscle7.6
Spinalcord10.15
SubthalamicNucleus6.45
SuperiorCervicalGanglion9.6
TemporalLobe6.45
Testis6.1
TestisGermCell5.75
TestisIntersitial5.9
TestisLeydigCell7
TestisSeminiferousTubule8.1
Thalamus8.8
Thymus5.45
Thyroid8.3
Tongue8.25
Tonsil6.9
Trachea7.35
TrigeminalGanglion6.95
Uterus5.8
UterusCorpus7.35
WholeBlood7.75
Wholebrain5.95
colon6.9
pineal_day8.34
pineal_night7.84
retina8.7
small_intestine6.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P367666
  • 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
Amygdala10.15 ± 0.32
Basal Forebrain9.83 ± 0.14
Basal Part of Pons9.57 ± 0.26
Cerebellar Cortex9.84 ± 0.29
Cerebellar Nuclei9.6 ± 0.26
Claustrum10.32 ± 0.47
Epithalamus9.73 ± 0.27
Frontal Lobe9.69 ± 0.33
Globus Pallidus9.88 ± 0.19
Hypothalamus9.52 ± 0.2
Insula9.72 ± 0.36
Limbic Lobe10.03 ± 0.41
Mesencephalon9.91 ± 0.29
Myelencephalon9.82 ± 0.39
Occipital Lobe10.23 ± 0.42
Parietal Lobe9.93 ± 0.32
Pontine Tegmentum9.87 ± 0.34
Striatum10.17 ± 0.35
Subthalamus9.75 ± 0.12
Temporal Lobe9.74 ± 0.33
Thalamus9.73 ± 0.18
White Matter10.15 ± 0.34
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ash1lCBCerebellum25.41
31.11
Ash1lCTXCerebral cortex95.37
77.55
Ash1lHIPHippocampal region54.05
94.29
Ash1lHPFHippocampal formation60.71
78.75
Ash1lHYHypothalamus37.15
28.34
Ash1lLSXLateral septal complex32.51
21.99
Ash1lMBMidbrain36.03
31.32
Ash1lMYMedulla37.26
39.47
Ash1lOLFOlfactory bulb72.43
60.41
Ash1lPPons37.93
37.83
Ash1lPALPallidum42.84
37.36
Ash1lRHPRetrohippocampal region72.36
61.39
Ash1lsAMYStriatum-like amygdalar nuclei55.81
43.45
Ash1lSTRStriatum72.23
54.15
Ash1lSTRdStriatum dorsal region78.88
59.65
Ash1lSTRvStriatum ventral region75.88
54.63
Ash1lTHThalamus43.53
35.76
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


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