AutismKB 2.0

Annotation Detail for ATAD5


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Basic Information Top
Gene Symbol:ATAD5 ( C17orf41,ELG1,FLJ12735,FRAG1 )
Gene Full Name: ATPase family, AAA domain containing 5
Band: 17q11.2
Quick LinksEntrez ID:79915; OMIM: 609534; Uniprot ID:ATAD5_HUMAN; ENSEMBL ID: ENSG00000176208; HGNC ID: 25752
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 body2 / 7076128
blastocyst2 / 6231932
fetus15 / 56401226
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult14 / 19391217
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 tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor0 / 1193690 
germ cell tumor9 / 26384534
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal28 / 33603078
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor4 / 12519131
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 
blood0 / 1234780 
bone0 / 716550 
bone marrow2 / 4880140
brain6 / 11009895
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus1 / 2020949
eye2 / 2110549
heart0 / 896260 
intestine3 / 23447212
kidney0 / 2117770 
larynx0 / 241450 
liver1 / 2077434
lung1 / 3369742
lymph0 / 442700 
lymph node3 / 9161032
mammary gland1 / 1532716
mouth1 / 6705214
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis6 / 33044218
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220223_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.15
Adipocyte5.5
AdrenalCortex6.15
Adrenalgland4.75
Amygdala5.8
Appendix7.4
AtrioventricularNode7.65
BDCA4+_DentriticCells6.05
Bonemarrow5.9
BronchialEpithelialCells5.3
CD105+_Endothelial5.95
CD14+_Monocytes6.4
CD19+_BCells(neg._sel.)5.8
CD33+_Myeloid7.05
CD34+7.45
CD4+_Tcells5.85
CD56+_NKCells6.6
CD71+_EarlyErythroid12.65
CD8+_Tcells5.35
CardiacMyocytes7.35
Caudatenucleus5
Cerebellum4.5
CerebellumPeduncles6.45
CiliaryGanglion4.2
CingulateCortex5.8
Colorectaladenocarcinoma5.6
DorsalRootGanglion4.65
FetalThyroid5.4
Fetalbrain5.5
Fetalliver4.95
Fetallung4.6
GlobusPallidus4.75
Heart8.15
Hypothalamus5.95
Kidney4.75
Leukemia_chronicMyelogenousK-5624.95
Leukemia_promyelocytic-HL-604.85
Leukemialymphoblastic(MOLT-4)4.5
Liver7.55
Lung6.05
Lymphnode4.75
Lymphoma_burkitts(Daudi)7.2
Lymphoma_burkitts(Raji)8
MedullaOblongata5.05
OccipitalLobe5
OlfactoryBulb4.35
Ovary3.9
Pancreas4.65
PancreaticIslet5.9
ParietalLobe6.3
Pituitary6.45
Placenta5.7
Pons5.8
PrefrontalCortex6.95
Prostate6.45
Salivarygland4.55
SkeletalMuscle7.85
Skin5.65
SmoothMuscle6.2
Spinalcord5.95
SubthalamicNucleus5.65
SuperiorCervicalGanglion7.45
TemporalLobe5.2
Testis4.75
TestisGermCell4.8
TestisIntersitial4.7
TestisLeydigCell5.65
TestisSeminiferousTubule4.8
Thalamus5.7
Thymus4.35
Thyroid6.95
Tongue5.65
Tonsil5.45
Trachea4.65
TrigeminalGanglion7.6
Uterus4.5
UterusCorpus5.05
WholeBlood6.05
Wholebrain4.6
colon5.55
pineal_day6.92
pineal_night6.82
retina6.775
small_intestine5.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P255750
  • 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
Amygdala4.23 ± 0.79
Basal Forebrain3.86 ± 0.34
Basal Part of Pons3.65 ± 0.43
Cerebellar Cortex4.35 ± 0.35
Cerebellar Nuclei3.51 ± 0.49
Claustrum3.86 ± 0.73
Epithalamus3.81 ± 0.78
Frontal Lobe3.63 ± 0.66
Globus Pallidus3.41 ± 0.76
Hypothalamus3.52 ± 0.39
Insula3.74 ± 0.62
Limbic Lobe3.8 ± 0.64
Mesencephalon3.85 ± 0.49
Myelencephalon3.78 ± 0.61
Occipital Lobe4.04 ± 0.53
Parietal Lobe3.78 ± 0.6
Pontine Tegmentum3.81 ± 0.68
Striatum3.61 ± 0.72
Subthalamus3.91 ± 0.06
Temporal Lobe3.88 ± 0.5
Thalamus3.58 ± 0.57
White Matter4.46 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
C130052G03RikCBCerebellum1.28
1.97
C130052G03RikCTXCerebral cortex1.3
2.25
C130052G03RikHIPHippocampal region0.56
0.77
C130052G03RikHPFHippocampal formation0.45
0.59
C130052G03RikHYHypothalamus0.14
0.25
C130052G03RikLSXLateral septal complex0.27
0.96
C130052G03RikMBMidbrain0.27
0.45
C130052G03RikMYMedulla0.61
0.83
C130052G03RikOLFOlfactory bulb0.67
0.59
C130052G03RikPPons0.43
0.46
C130052G03RikPALPallidum2.38
4.16
C130052G03RikRHPRetrohippocampal region0.23
0.3
C130052G03RiksAMYStriatum-like amygdalar nuclei0.09
0.09
C130052G03RikSTRStriatum0.21
0.3
C130052G03RikSTRdStriatum dorsal region0.26
0.35
C130052G03RikSTRvStriatum ventral region0.16
0.15
C130052G03RikTHThalamus1.15
1.55
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


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