AutismKB 2.0

Annotation Detail for ASXL1


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Basic Information Top
Gene Symbol:ASXL1 ( KIAA0978,MGC117280,MGC71111 )
Gene Full Name: additional sex combs like 1 (Drosophila)
Band: 20q11.21
Quick LinksEntrez ID:171023; OMIM: 612990; Uniprot ID:ASXL1_HUMAN; ENSEMBL ID: ENSG00000171456; HGNC ID: 18318
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 body13 / 70761183
blastocyst1 / 6231916
fetus42 / 56401274
neonate0 / 310970 
infant2 / 2362084
juvenile4 / 5555671
adult123 / 193912163
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) tumor2 / 9417821
cervical tumor1 / 3436629
chondrosarcoma10 / 82823120
colorectal tumor7 / 11424661
esophageal tumor1 / 1729057
gastrointestinal tumor8 / 11936967
germ cell tumor11 / 26384541
glioma4 / 10688337
head and neck tumor11 / 13630280
kidney tumor3 / 6895943
leukemia5 / 9584252
liver tumor9 / 9635993
lung tumor5 / 10312748
lymphoma9 / 71755125
non-neoplasia1 / 9725010
normal242 / 336030772
ovarian tumor4 / 7668252
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer4 / 10268038
retinoblastoma4 / 4635686
skin tumor4 / 12494932
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites2 / 4001549
bladder1 / 2975733
blood3 / 12347824
bone7 / 7165597
bone marrow3 / 4880161
brain53 / 110098948
cervix2 / 4817141
connective tissue10 / 14925566
ear0 / 162120 
embryonic tissue22 / 215722101
esophagus1 / 2020949
eye22 / 211054104
heart3 / 8962633
intestine15 / 23447263
kidney15 / 21177770
larynx1 / 2414541
liver24 / 207743115
lung27 / 33697480
lymph5 / 44270112
lymph node22 / 91610240
mammary gland4 / 15327126
mouth4 / 6705259
muscle5 / 10771546
nerve2 / 15768126
ovary8 / 10205178
pancreas16 / 21481274
parathyroid3 / 20539146
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta4 / 28082514
prostate9 / 18934547
salivary gland0 / 201550 
skin6 / 21057428
spleen4 / 5395274
stomach8 / 9661982
testis26 / 33044278
thymus8 / 8113198
thyroid6 / 47473126
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus17 / 23287872
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212238_at
Cell line Expression level Expression bar
721_B_lymphoblasts18.65
Adipocyte5.2
AdrenalCortex5.35
Adrenalgland4.4
Amygdala5.5
Appendix5.2
AtrioventricularNode3.9
BDCA4+_DentriticCells16.1
Bonemarrow5.1
BronchialEpithelialCells5.05
CD105+_Endothelial6.15
CD14+_Monocytes7.95
CD19+_BCells(neg._sel.)15.65
CD33+_Myeloid10.85
CD34+12.3
CD4+_Tcells40.6
CD56+_NKCells12.35
CD71+_EarlyErythroid7.4
CD8+_Tcells42.25
CardiacMyocytes6.45
Caudatenucleus4.35
Cerebellum4.45
CerebellumPeduncles5.2
CiliaryGanglion3.15
CingulateCortex5.3
Colorectaladenocarcinoma14.3
DorsalRootGanglion3.95
FetalThyroid7.1
Fetalbrain5.3
Fetalliver4.5
Fetallung6.95
GlobusPallidus3.8
Heart6.55
Hypothalamus5.7
Kidney4.15
Leukemia_chronicMyelogenousK-5626.65
Leukemia_promyelocytic-HL-605.35
Leukemialymphoblastic(MOLT-4)9.6
Liver6.75
Lung6.85
Lymphnode4.8
Lymphoma_burkitts(Daudi)6.65
Lymphoma_burkitts(Raji)7.3
MedullaOblongata4.5
OccipitalLobe4.1
OlfactoryBulb4.15
Ovary3.65
Pancreas4.15
PancreaticIslet5.55
ParietalLobe5.45
Pituitary5.5
Placenta5.5
Pons4.95
PrefrontalCortex7.05
Prostate5.8
Salivarygland4.15
SkeletalMuscle5.8
Skin3.5
SmoothMuscle8.4
Spinalcord5.55
SubthalamicNucleus4.7
SuperiorCervicalGanglion5.8
TemporalLobe4.75
Testis10.3
TestisGermCell11.25
TestisIntersitial18.95
TestisLeydigCell11.35
TestisSeminiferousTubule7.35
Thalamus4.8
Thymus4.65
Thyroid5.6
Tongue4.6
Tonsil7.2
Trachea4.35
TrigeminalGanglion5.05
Uterus4.3
UterusCorpus5.15
WholeBlood5.8
Wholebrain3.95
colon5.3
pineal_day6.5
pineal_night5.66
retina8.875
small_intestine4.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P19337
  • 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
Amygdala5.2 ± 0.26
Basal Forebrain5.47 ± 0.43
Basal Part of Pons5.59 ± 0.26
Cerebellar Cortex5.54 ± 0.35
Cerebellar Nuclei5.12 ± 0.55
Claustrum4.99 ± 0.74
Epithalamus5.52 ± 0.64
Frontal Lobe5.31 ± 0.39
Globus Pallidus5.2 ± 0.27
Hypothalamus5.33 ± 0.19
Insula5.42 ± 0.53
Limbic Lobe5.3 ± 0.41
Mesencephalon5.31 ± 0.45
Myelencephalon5.34 ± 0.46
Occipital Lobe5.31 ± 0.32
Parietal Lobe5.28 ± 0.39
Pontine Tegmentum5.19 ± 0.38
Striatum5.09 ± 0.38
Subthalamus5.58 ± 0.16
Temporal Lobe5.41 ± 0.33
Thalamus5.31 ± 0.38
White Matter6.38 ± 0.14
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Asxl1CBCerebellum16.22
19.89
Asxl1CTXCerebral cortex43.22
30.28
Asxl1HIPHippocampal region29.96
30.64
Asxl1HPFHippocampal formation33.03
29.43
Asxl1HYHypothalamus9.7
6.75
Asxl1LSXLateral septal complex10.94
6.96
Asxl1MBMidbrain13.49
11.29
Asxl1MYMedulla24.76
25.52
Asxl1OLFOlfactory bulb29.08
21.31
Asxl1PPons18.06
17.33
Asxl1PALPallidum22.94
20.46
Asxl1RHPRetrohippocampal region38.48
28.49
Asxl1sAMYStriatum-like amygdalar nuclei22.53
15.64
Asxl1STRStriatum17.13
11.67
Asxl1STRdStriatum dorsal region16.27
11.21
Asxl1STRvStriatum ventral region20.48
13.18
Asxl1THThalamus21.85
16.37
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ASXL1_HUMAN_1 11 1 11 MKDKQKKKKER PRIDE
ASXL1_HUMAN_5 7 5 11 QKKKKER PRIDE
ASXL1_HUMAN_617 9 617 625 IKARALQVR PRIDE

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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