AutismKB 2.0

Annotation Detail for ATP13A4


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Basic Information Top
Gene Symbol:ATP13A4 ( DKFZp761I1011,MGC126545 )
Gene Full Name: ATPase type 13A4
Band: 3q29
Quick LinksEntrez ID:84239; OMIM: 609556; Uniprot ID:AT134_HUMAN; ENSEMBL ID: ENSG00000127249; HGNC ID: 25422
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 body0 / 707610 
blastocyst0 / 623190 
fetus2 / 5640123
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult22 / 193912111
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma2 / 10688318
head and neck tumor5 / 13630236
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal31 / 33603079
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain22 / 110098919
cervix0 / 481710 
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth6 / 6705289
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach1 / 9661910
testis0 / 3304420 
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus0 / 2328780 
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_P430948
  • 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
Amygdala7.7 ± 0.38
Basal Forebrain7.85 ± 0.37
Basal Part of Pons6.55 ± 0.46
Cerebellar Cortex6.74 ± 0.32
Cerebellar Nuclei7.27 ± 0.64
Claustrum7.55 ± 0.54
Epithalamus7.7 ± 0.53
Frontal Lobe7.18 ± 0.58
Globus Pallidus8.79 ± 0.51
Hypothalamus7.29 ± 0.74
Insula7.07 ± 0.5
Limbic Lobe7.18 ± 0.66
Mesencephalon7.64 ± 0.57
Myelencephalon7.47 ± 0.66
Occipital Lobe7.87 ± 0.74
Parietal Lobe7.41 ± 0.5
Pontine Tegmentum7.61 ± 0.38
Striatum7.82 ± 0.43
Subthalamus7.5 ± 0.23
Temporal Lobe7.13 ± 0.48
Thalamus7.67 ± 0.4
White Matter7.55 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Atp13a4CBCerebellum24.35
27.58
Atp13a4CTXCerebral cortex1.92
1.25
Atp13a4HIPHippocampal region2.12
1.35
Atp13a4HPFHippocampal formation2.22
1.42
Atp13a4HYHypothalamus15.3
8.83
Atp13a4LSXLateral septal complex2.58
1.43
Atp13a4MBMidbrain7.04
4.47
Atp13a4MYMedulla16.7
10.74
Atp13a4OLFOlfactory bulb3.04
1.62
Atp13a4PPons10.56
6.81
Atp13a4PALPallidum12.58
7.31
Atp13a4RHPRetrohippocampal region2.36
1.47
Atp13a4sAMYStriatum-like amygdalar nuclei12.11
6.55
Atp13a4STRStriatum1.83
1.02
Atp13a4STRdStriatum dorsal region0.45
0.31
Atp13a4STRvStriatum ventral region2.18
1.05
Atp13a4THThalamus8.7
5.05
Peptide Top

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