AutismKB 2.0

Annotation Detail for ASXL2


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Basic Information Top
Gene Symbol:ASXL2 ( ASXH2,DKFZp686C1968,FLJ10898,KIAA1685 )
Gene Full Name: additional sex combs like 2 (Drosophila)
Band: 2p23.3
Quick LinksEntrez ID:55252; OMIM: 612991; Uniprot ID:ASXL2_HUMAN; ENSEMBL ID: ENSG00000143970; HGNC ID: 23805
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 body3 / 7076142
blastocyst2 / 6231932
fetus26 / 56401246
neonate0 / 310970 
infant1 / 2362042
juvenile5 / 5555689
adult101 / 193912152
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor11 / 26384541
glioma2 / 10688318
head and neck tumor15 / 136302110
kidney tumor3 / 6895943
leukemia0 / 958420 
liver tumor9 / 9635993
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal117 / 336030734
ovarian tumor4 / 7668252
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor2 / 12494916
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites1 / 4001524
bladder1 / 2975733
blood0 / 1234780 
bone5 / 7165569
bone marrow0 / 488010 
brain16 / 110098914
cervix0 / 481710 
connective tissue1 / 1492556
ear2 / 16212123
embryonic tissue12 / 21572255
esophagus0 / 202090 
eye10 / 21105447
heart4 / 8962644
intestine14 / 23447259
kidney9 / 21177742
larynx1 / 2414541
liver12 / 20774357
lung9 / 33697426
lymph0 / 442700 
lymph node5 / 9161054
mammary gland11 / 15327171
mouth11 / 67052164
muscle5 / 10771546
nerve1 / 1576863
ovary4 / 10205139
pancreas11 / 21481251
parathyroid2 / 2053997
pharynx2 / 4132848
pituitary gland3 / 16585180
placenta10 / 28082535
prostate3 / 18934515
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach2 / 9661920
testis19 / 33044257
thymus2 / 8113124
thyroid2 / 4747342
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus13 / 23287855
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218659_at
Cell line Expression level Expression bar
721_B_lymphoblasts77.75
Adipocyte36.65
AdrenalCortex50.95
Adrenalgland52.45
Amygdala43.05
Appendix65.75
AtrioventricularNode40.3
BDCA4+_DentriticCells109.35
Bonemarrow93.3
BronchialEpithelialCells52.55
CD105+_Endothelial117
CD14+_Monocytes81.55
CD19+_BCells(neg._sel.)61.85
CD33+_Myeloid168.85
CD34+113.05
CD4+_Tcells220.15
CD56+_NKCells66.15
CD71+_EarlyErythroid60.2
CD8+_Tcells175.15
CardiacMyocytes33.85
Caudatenucleus25.35
Cerebellum48.7
CerebellumPeduncles50.8
CiliaryGanglion42.75
CingulateCortex43.25
Colorectaladenocarcinoma62.9
DorsalRootGanglion50.1
FetalThyroid63.65
Fetalbrain31.65
Fetalliver91.2
Fetallung41.85
GlobusPallidus42.35
Heart39.9
Hypothalamus33.5
Kidney50.95
Leukemia_chronicMyelogenousK-56247.55
Leukemia_promyelocytic-HL-6061.15
Leukemialymphoblastic(MOLT-4)70.2
Liver45.65
Lung63.15
Lymphnode59.45
Lymphoma_burkitts(Daudi)64.2
Lymphoma_burkitts(Raji)85.5
MedullaOblongata44
OccipitalLobe43.5
OlfactoryBulb57.65
Ovary32.25
Pancreas33.7
PancreaticIslet60.7
ParietalLobe52.9
Pituitary171.05
Placenta60.15
Pons49.85
PrefrontalCortex84.15
Prostate109.9
Salivarygland104.45
SkeletalMuscle57.45
Skin57
SmoothMuscle53.8
Spinalcord38.45
SubthalamicNucleus50.9
SuperiorCervicalGanglion85.55
TemporalLobe45.3
Testis61.45
TestisGermCell93.9
TestisIntersitial91.25
TestisLeydigCell74.45
TestisSeminiferousTubule86.3
Thalamus40.3
Thymus124.15
Thyroid58.05
Tongue54.75
Tonsil71.85
Trachea57
TrigeminalGanglion73.7
Uterus74.15
UterusCorpus54.9
WholeBlood700.45
Wholebrain49.9
colon81.9
pineal_day114.46
pineal_night86.9
retina101.375
small_intestine49.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_507_PI416261804
  • 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
Amygdala4.91 ± 0.3
Basal Forebrain4.94 ± 0.27
Basal Part of Pons4.52 ± 0.54
Cerebellar Cortex4.91 ± 0.32
Cerebellar Nuclei4.54 ± 0.32
Claustrum4.85 ± 0.59
Epithalamus4.94 ± 0.54
Frontal Lobe4.59 ± 0.44
Globus Pallidus5.27 ± 0.26
Hypothalamus4.39 ± 0.53
Insula4.69 ± 0.6
Limbic Lobe4.85 ± 0.48
Mesencephalon4.72 ± 0.55
Myelencephalon4.72 ± 0.49
Occipital Lobe4.86 ± 0.54
Parietal Lobe4.69 ± 0.55
Pontine Tegmentum4.68 ± 0.55
Striatum4.92 ± 0.56
Subthalamus4.57 ± 0.35
Temporal Lobe4.56 ± 0.42
Thalamus4.55 ± 0.49
White Matter5.59 ± 0.39
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Asxl2CBCerebellum36.72
43.71
Asxl2CTXCerebral cortex50.29
34.93
Asxl2HIPHippocampal region37.24
42.49
Asxl2HPFHippocampal formation39.33
37.36
Asxl2HYHypothalamus17.52
13.36
Asxl2LSXLateral septal complex19.05
12.87
Asxl2MBMidbrain25.42
20.6
Asxl2MYMedulla42.13
39.49
Asxl2OLFOlfactory bulb46.33
35.49
Asxl2PPons31.2
27.7
Asxl2PALPallidum30.39
25.44
Asxl2RHPRetrohippocampal region41.5
31.05
Asxl2sAMYStriatum-like amygdalar nuclei25.54
17.4
Asxl2STRStriatum43.62
30.82
Asxl2STRdStriatum dorsal region45.35
32.61
Asxl2STRvStriatum ventral region57.28
38.34
Asxl2THThalamus34.87
27.86
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00009335 18 811 828 ATATVASVSHPQGPSSCR 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