AutismKB 2.0

Annotation Detail for ATXN2L


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Basic Information Top
Gene Symbol:ATXN2L ( A2D,A2LG,A2LP,A2RP )
Gene Full Name: ataxin 2-like
Band: 16p11.2
Quick LinksEntrez ID:11273; OMIM: 607931; Uniprot ID:ATX2L_HUMAN; ENSEMBL ID: ENSG00000168488; HGNC ID: 31326
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 body11 / 70761155
blastocyst19 / 62319304
fetus26 / 56401246
neonate0 / 310970 
infant0 / 236200 
juvenile4 / 5555671
adult193 / 193912199
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma8 / 17475457
breast (mammary gland) tumor12 / 94178127
cervical tumor8 / 34366232
chondrosarcoma11 / 82823132
colorectal tumor13 / 114246113
esophageal tumor1 / 1729057
gastrointestinal tumor17 / 119369142
germ cell tumor25 / 26384594
glioma14 / 106883130
head and neck tumor16 / 136302117
kidney tumor4 / 6895958
leukemia17 / 95842177
liver tumor4 / 9635941
lung tumor10 / 10312796
lymphoma37 / 71755515
non-neoplasia4 / 9725041
normal227 / 336030767
ovarian tumor5 / 7668265
pancreatic tumor12 / 104616114
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer4 / 10268038
retinoblastoma9 / 46356194
skin tumor11 / 12494988
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor16 / 90257177
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites7 / 40015174
bladder8 / 29757268
blood15 / 123478121
bone8 / 71655111
bone marrow1 / 4880120
brain45 / 110098940
cervix10 / 48171207
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue44 / 215722203
esophagus1 / 2020949
eye25 / 211054118
heart3 / 8962633
intestine23 / 23447298
kidney7 / 21177733
larynx2 / 2414582
liver4 / 20774319
lung24 / 33697471
lymph35 / 44270790
lymph node11 / 91610120
mammary gland21 / 153271137
mouth7 / 67052104
muscle1 / 1077159
nerve6 / 15768380
ovary5 / 10205148
pancreas21 / 21481297
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta21 / 28082574
prostate5 / 18934526
salivary gland0 / 201550 
skin17 / 21057480
spleen1 / 5395218
stomach9 / 9661993
testis16 / 33044248
thymus3 / 8113136
thyroid9 / 47473189
tonsil1 / 1699958
trachea1 / 5241319
umbilical cord0 / 136800 
uterus23 / 23287898
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201806_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts208.85
Adipocyte189.7
AdrenalCortex190.7
Adrenalgland124.5
Amygdala140.5
Appendix154
AtrioventricularNode256.2
BDCA4+_DentriticCells93.7
Bonemarrow174.9
BronchialEpithelialCells123.95
CD105+_Endothelial159.85
CD14+_Monocytes164.25
CD19+_BCells(neg._sel.)102.85
CD33+_Myeloid173.1
CD34+172.25
CD4+_Tcells133.4
CD56+_NKCells143.85
CD71+_EarlyErythroid211
CD8+_Tcells123.8
CardiacMyocytes125.15
Caudatenucleus194.5
Cerebellum141.85
CerebellumPeduncles222.05
CiliaryGanglion142.75
CingulateCortex188.4
Colorectaladenocarcinoma175.9
DorsalRootGanglion232.1
FetalThyroid147.4
Fetalbrain162.05
Fetalliver138.4
Fetallung124.2
GlobusPallidus195.55
Heart174.25
Hypothalamus169.45
Kidney165.25
Leukemia_chronicMyelogenousK-562251.35
Leukemia_promyelocytic-HL-60170.05
Leukemialymphoblastic(MOLT-4)222.6
Liver246.6
Lung146.45
Lymphnode152.1
Lymphoma_burkitts(Daudi)302.7
Lymphoma_burkitts(Raji)353.8
MedullaOblongata156.9
OccipitalLobe151.35
OlfactoryBulb189.2
Ovary110.45
Pancreas105.9
PancreaticIslet159.3
ParietalLobe167.35
Pituitary193.45
Placenta167.35
Pons220.75
PrefrontalCortex212.85
Prostate117.85
Salivarygland172.05
SkeletalMuscle254.65
Skin205.15
SmoothMuscle148.65
Spinalcord167.45
SubthalamicNucleus307.6
SuperiorCervicalGanglion188.7
TemporalLobe166.9
Testis157.4
TestisGermCell219.15
TestisIntersitial151.7
TestisLeydigCell249.55
TestisSeminiferousTubule354.8
Thalamus261.9
Thymus90.1
Thyroid116.95
Tongue163.6
Tonsil169.95
Trachea103.3
TrigeminalGanglion207.4
Uterus81.85
UterusCorpus146.9
WholeBlood114.75
Wholebrain87.3
colon41.8
pineal_day173.54
pineal_night175.08
retina138.875
small_intestine55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P147439
  • 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
Amygdala4.04 ± 0.68
Basal Forebrain3.56 ± 0.31
Basal Part of Pons3.6 ± 0.45
Cerebellar Cortex4.22 ± 0.28
Cerebellar Nuclei3.62 ± 0.47
Claustrum3.88 ± 0.54
Epithalamus3.32 ± 0.68
Frontal Lobe3.68 ± 0.51
Globus Pallidus3.54 ± 0.66
Hypothalamus3.55 ± 0.35
Insula3.69 ± 0.44
Limbic Lobe3.82 ± 0.5
Mesencephalon3.77 ± 0.64
Myelencephalon3.73 ± 0.57
Occipital Lobe4.02 ± 0.58
Parietal Lobe3.84 ± 0.46
Pontine Tegmentum3.84 ± 0.57
Striatum3.43 ± 0.6
Subthalamus3.86 ± 0.32
Temporal Lobe3.75 ± 0.53
Thalamus3.64 ± 0.63
White Matter4.04 ± 0.43
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ATX2L_HUMAN_1 25 1 25 MLKPQPLQQPSQPQQPPPTQQAVAR PRIDE
ATX2L_HUMAN_176 21 176 196 REDIVDTMVFKPSDVMLVHFR PRIDE
ATX2L_HUMAN_313 9 313 321 IAMENDDGR PRIDE
PAp00009918 35 607 641 EDKPPLAPSGGTEGPEQPPPPCPSQTGSPPVGLIK 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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