AutismKB 2.0

Annotation Detail for ATXN7L3


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Basic Information Top
Gene Symbol:ATXN7L3 ( DKFZp761G2113 )
Gene Full Name: ataxin 7-like 3
Band: 17q21.31
Quick LinksEntrez ID:56970; OMIM: NA; Uniprot ID:AT7L3_HUMAN; ENSEMBL ID: ENSG00000087152; HGNC ID: 25416
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 body10 / 70761141
blastocyst4 / 6231964
fetus31 / 56401254
neonate0 / 310970 
infant1 / 2362042
juvenile1 / 5555617
adult93 / 193912147
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor23 / 26384587
glioma12 / 106883112
head and neck tumor9 / 13630266
kidney tumor4 / 6895958
leukemia6 / 9584262
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma8 / 71755111
non-neoplasia4 / 9725041
normal150 / 336030744
ovarian tumor5 / 7668265
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer5 / 10268048
retinoblastoma8 / 46356172
skin tumor20 / 124949160
soft tissue/muscle tissue tumor7 / 12519155
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
ascites3 / 4001574
bladder0 / 297570 
blood6 / 12347848
bone3 / 7165541
bone marrow1 / 4880120
brain61 / 110098955
cervix0 / 481710 
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue17 / 21572278
esophagus0 / 202090 
eye12 / 21105456
heart9 / 89626100
intestine6 / 23447225
kidney5 / 21177723
larynx2 / 2414582
liver0 / 2077430 
lung6 / 33697417
lymph6 / 44270135
lymph node2 / 9161021
mammary gland8 / 15327152
mouth6 / 6705289
muscle1 / 1077159
nerve1 / 1576863
ovary7 / 10205168
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta15 / 28082553
prostate6 / 18934531
salivary gland0 / 201550 
skin23 / 210574109
spleen3 / 5395255
stomach0 / 966190 
testis19 / 33044257
thymus12 / 81131147
thyroid4 / 4747384
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord2 / 13680146
uterus16 / 23287868
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P421935
  • 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
Amygdala6.11 ± 0.4
Basal Forebrain5.84 ± 0.26
Basal Part of Pons6.59 ± 0.2
Cerebellar Cortex5.9 ± 0.27
Cerebellar Nuclei5.92 ± 0.3
Claustrum6.06 ± 0.38
Epithalamus5.58 ± 0.22
Frontal Lobe6.27 ± 0.38
Globus Pallidus5.44 ± 0.39
Hypothalamus5.53 ± 0.25
Insula6.26 ± 0.25
Limbic Lobe6.17 ± 0.37
Mesencephalon5.88 ± 0.41
Myelencephalon6.07 ± 0.45
Occipital Lobe5.86 ± 0.5
Parietal Lobe6.22 ± 0.37
Pontine Tegmentum5.94 ± 0.38
Striatum5.68 ± 0.56
Subthalamus6 ± 0.15
Temporal Lobe6.27 ± 0.29
Thalamus6.16 ± 0.29
White Matter4.98 ± 0.31
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Atxn7l3CBCerebellum40.29
83.11
Atxn7l3CTXCerebral cortex100
100
Atxn7l3HIPHippocampal region100
100
Atxn7l3HPFHippocampal formation100
100
Atxn7l3HYHypothalamus75.31
74.31
Atxn7l3LSXLateral septal complex78.64
68.93
Atxn7l3MBMidbrain100
100
Atxn7l3MYMedulla90.33
100
Atxn7l3OLFOlfactory bulb100
100
Atxn7l3PPons87.63
100
Atxn7l3PALPallidum89.79
100
Atxn7l3RHPRetrohippocampal region100
100
Atxn7l3sAMYStriatum-like amygdalar nuclei95.39
90.88
Atxn7l3STRStriatum90.32
81.62
Atxn7l3STRdStriatum dorsal region90.62
82.96
Atxn7l3STRvStriatum ventral region96.31
82.67
Atxn7l3THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00011489 15 203 217 SLLTTQCGVISEHTK 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