AutismKB 2.0

Annotation Detail for ATXN10


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Basic Information Top
Gene Symbol:ATXN10 ( E46L,FLJ37990,HUMEEP,SCA10 )
Gene Full Name: ataxin 10
Band: 22q13.31
Quick LinksEntrez ID:25814; OMIM: 611150; Uniprot ID:ATX10_HUMAN; ENSEMBL ID: ENSG00000130638; HGNC ID: 10549
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 body8 / 70761113
blastocyst10 / 62319160
fetus102 / 564012180
neonate4 / 31097128
infant8 / 23620338
juvenile33 / 55556593
adult221 / 1939121113
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma3 / 17475171
breast (mammary gland) tumor12 / 94178127
cervical tumor3 / 3436687
chondrosarcoma7 / 8282384
colorectal tumor8 / 11424670
esophageal tumor6 / 17290347
gastrointestinal tumor17 / 119369142
germ cell tumor46 / 263845174
glioma11 / 106883102
head and neck tumor20 / 136302146
kidney tumor8 / 68959116
leukemia20 / 95842208
liver tumor14 / 96359145
lung tumor8 / 10312777
lymphoma27 / 71755376
non-neoplasia17 / 97250174
normal440 / 3360307130
ovarian tumor15 / 76682195
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS42 / 125680334
prostate cancer14 / 102680136
retinoblastoma12 / 46356258
skin tumor7 / 12494956
soft tissue/muscle tissue tumor29 / 125191231
uterine tumor10 / 90257110
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland4 / 33197120
ascites7 / 40015174
bladder4 / 29757134
blood26 / 123478210
bone8 / 71655111
bone marrow5 / 48801102
brain207 / 1100989188
cervix3 / 4817162
connective tissue27 / 149255180
ear2 / 16212123
embryonic tissue32 / 215722148
esophagus8 / 20209395
eye31 / 211054146
heart8 / 8962689
intestine18 / 23447276
kidney24 / 211777113
larynx6 / 24145248
liver17 / 20774381
lung31 / 33697491
lymph17 / 44270384
lymph node3 / 9161032
mammary gland22 / 153271143
mouth7 / 67052104
muscle5 / 10771546
nerve2 / 15768126
ovary19 / 102051186
pancreas4 / 21481218
parathyroid1 / 2053948
pharynx4 / 4132896
pituitary gland3 / 16585180
placenta40 / 280825142
prostate22 / 189345116
salivary gland1 / 2015549
skin12 / 21057456
spleen4 / 5395274
stomach11 / 96619113
testis64 / 330442193
thymus16 / 81131197
thyroid10 / 47473210
tonsil7 / 16999411
trachea1 / 5241319
umbilical cord4 / 13680292
uterus38 / 232878163
vascular11 / 51780212
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208833_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts1285.75
Adipocyte286.2
AdrenalCortex167.25
Adrenalgland216.85
Amygdala1265.6
Appendix178.35
AtrioventricularNode25.7
BDCA4+_DentriticCells484.15
Bonemarrow199.55
BronchialEpithelialCells729.75
CD105+_Endothelial574.5
CD14+_Monocytes375
CD19+_BCells(neg._sel.)648.75
CD33+_Myeloid491.05
CD34+849.85
CD4+_Tcells433.1
CD56+_NKCells580
CD71+_EarlyErythroid287.35
CD8+_Tcells371.3
CardiacMyocytes479.3
Caudatenucleus401.55
Cerebellum249.95
CerebellumPeduncles290.95
CiliaryGanglion60.8
CingulateCortex400.75
Colorectaladenocarcinoma254.25
DorsalRootGanglion126.05
FetalThyroid440.4
Fetalbrain889.85
Fetalliver299.6
Fetallung312.95
GlobusPallidus249.5
Heart125.5
Hypothalamus829.6
Kidney170.75
Leukemia_chronicMyelogenousK-562265.85
Leukemia_promyelocytic-HL-60528.15
Leukemialymphoblastic(MOLT-4)482.65
Liver125.7
Lung261.65
Lymphnode238.85
Lymphoma_burkitts(Daudi)901.5
Lymphoma_burkitts(Raji)488.2
MedullaOblongata438.3
OccipitalLobe662.75
OlfactoryBulb219.15
Ovary171.25
Pancreas106.35
PancreaticIslet397.65
ParietalLobe482.2
Pituitary664.05
Placenta234.1
Pons285.2
PrefrontalCortex529.45
Prostate503.45
Salivarygland228.15
SkeletalMuscle167.45
Skin63.15
SmoothMuscle823
Spinalcord394.95
SubthalamicNucleus296.5
SuperiorCervicalGanglion143.9
TemporalLobe307.5
Testis443.9
TestisGermCell551.8
TestisIntersitial358.3
TestisLeydigCell379
TestisSeminiferousTubule344
Thalamus513.1
Thymus348.4
Thyroid629.95
Tongue176.95
Tonsil225.8
Trachea225.05
TrigeminalGanglion71.9
Uterus347.25
UterusCorpus290.4
WholeBlood215
Wholebrain716.95
colon398.15
pineal_day1069.5
pineal_night1081.12
retina535.05
small_intestine416
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P391368
  • 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
Amygdala9.92 ± 0.23
Basal Forebrain9.7 ± 0.25
Basal Part of Pons9.91 ± 0.2
Cerebellar Cortex9.62 ± 0.27
Cerebellar Nuclei9.59 ± 0.34
Claustrum9.72 ± 0.28
Epithalamus9.67 ± 0.38
Frontal Lobe9.93 ± 0.25
Globus Pallidus9.67 ± 0.44
Hypothalamus10.16 ± 0.22
Insula9.99 ± 0.28
Limbic Lobe9.93 ± 0.43
Mesencephalon9.77 ± 0.31
Myelencephalon9.75 ± 0.37
Occipital Lobe9.47 ± 0.48
Parietal Lobe9.81 ± 0.3
Pontine Tegmentum9.83 ± 0.35
Striatum9.56 ± 0.4
Subthalamus9.85 ± 0.2
Temporal Lobe9.93 ± 0.26
Thalamus9.71 ± 0.28
White Matter9.74 ± 0.14
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ATX10_HUMAN_2 9 2 10 AAPRPPPAR PRIDE
PAp00025629 14 271 284 HAELIASTFVDQCK 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