AutismKB 2.0

Annotation Detail for AMBRA1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:AMBRA1 ( DCAF3,FLJ20294,KIAA1736,MGC33725,WDR94 )
Gene Full Name: autophagy/beclin-1 regulator 1
Band: 11p11.2
Quick LinksEntrez ID:55626; OMIM: 611359; Uniprot ID:AMRA1_HUMAN; ENSEMBL ID: ENSG00000110497; HGNC ID: 25990
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 
blastocyst3 / 6231948
fetus25 / 56401244
neonate2 / 3109764
infant1 / 2362042
juvenile6 / 55556107
adult59 / 193912130
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) tumor1 / 9417810
cervical tumor2 / 3436658
chondrosarcoma1 / 8282312
colorectal tumor4 / 11424635
esophageal tumor4 / 17290231
gastrointestinal tumor3 / 11936925
germ cell tumor25 / 26384594
glioma3 / 10688328
head and neck tumor5 / 13630236
kidney tumor2 / 6895929
leukemia4 / 9584241
liver tumor4 / 9635941
lung tumor3 / 10312729
lymphoma6 / 7175583
non-neoplasia2 / 9725020
normal137 / 336030740
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer4 / 10268038
retinoblastoma1 / 4635621
skin tumor2 / 12494916
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood5 / 12347840
bone0 / 716550 
bone marrow1 / 4880120
brain84 / 110098976
cervix2 / 4817141
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus4 / 20209197
eye4 / 21105418
heart1 / 8962611
intestine6 / 23447225
kidney4 / 21177718
larynx0 / 241450 
liver7 / 20774333
lung8 / 33697423
lymph3 / 4427067
lymph node8 / 9161087
mammary gland4 / 15327126
mouth3 / 6705244
muscle2 / 10771518
nerve3 / 15768190
ovary2 / 10205119
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate5 / 18934526
salivary gland1 / 2015549
skin5 / 21057423
spleen2 / 5395237
stomach2 / 9661920
testis33 / 33044299
thymus4 / 8113149
thyroid2 / 4747342
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord4 / 13680292
uterus7 / 23287830
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 52731_at
Cell line Expression level Expression bar
721_B_lymphoblasts22.85
Adipocyte22.55
AdrenalCortex33.05
Adrenalgland18.5
Amygdala24
Appendix21.45
AtrioventricularNode23.25
BDCA4+_DentriticCells19.6
Bonemarrow21.2
BronchialEpithelialCells18.25
CD105+_Endothelial19.15
CD14+_Monocytes26.9
CD19+_BCells(neg._sel.)20.55
CD33+_Myeloid22.3
CD34+23.65
CD4+_Tcells20.35
CD56+_NKCells22.8
CD71+_EarlyErythroid20.25
CD8+_Tcells19.45
CardiacMyocytes34.8
Caudatenucleus16.9
Cerebellum15.15
CerebellumPeduncles28.2
CiliaryGanglion28.9
CingulateCortex22.55
Colorectaladenocarcinoma21.3
DorsalRootGanglion18.75
FetalThyroid25.75
Fetalbrain14.75
Fetalliver16.8
Fetallung11.8
GlobusPallidus16.75
Heart38.1
Hypothalamus19.75
Kidney16.95
Leukemia_chronicMyelogenousK-56217
Leukemia_promyelocytic-HL-6016.75
Leukemialymphoblastic(MOLT-4)13.25
Liver32.05
Lung32.7
Lymphnode15.45
Lymphoma_burkitts(Daudi)25.4
Lymphoma_burkitts(Raji)29.75
MedullaOblongata15.35
OccipitalLobe17.1
OlfactoryBulb13.5
Ovary13.75
Pancreas16
PancreaticIslet20.65
ParietalLobe21.55
Pituitary23.2
Placenta21.8
Pons18.9
PrefrontalCortex24.2
Prostate28.55
Salivarygland16.85
SkeletalMuscle28.2
Skin20.45
SmoothMuscle22.55
Spinalcord19.6
SubthalamicNucleus18.7
SuperiorCervicalGanglion29.85
TemporalLobe18.05
Testis19.95
TestisGermCell15.2
TestisIntersitial22.4
TestisLeydigCell22
TestisSeminiferousTubule17.2
Thalamus20.25
Thymus25.5
Thyroid25.45
Tongue25.45
Tonsil19.15
Trachea15.4
TrigeminalGanglion31.05
Uterus16.35
UterusCorpus18.5
WholeBlood21.1
Wholebrain30.3
colon26
pineal_day37.56
pineal_night28.96
retina36.1
small_intestine20.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_638_PI416261804
  • 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
Amygdala3.27 ± 0.89
Basal Forebrain2.87 ± 0.41
Basal Part of Pons2.56 ± 0.44
Cerebellar Cortex3.41 ± 0.47
Cerebellar Nuclei3.09 ± 0.73
Claustrum3.29 ± 0.64
Epithalamus2.66 ± 0.6
Frontal Lobe2.93 ± 0.71
Globus Pallidus2.6 ± 0.71
Hypothalamus2.91 ± 0.61
Insula2.5 ± 0.69
Limbic Lobe2.78 ± 0.67
Mesencephalon3.08 ± 0.68
Myelencephalon2.96 ± 0.68
Occipital Lobe2.81 ± 0.7
Parietal Lobe2.87 ± 0.66
Pontine Tegmentum2.92 ± 0.63
Striatum2.7 ± 0.65
Subthalamus3.04 ± 0.68
Temporal Lobe2.9 ± 0.63
Thalamus2.85 ± 0.67
White Matter3.81 ± 0.39
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
D030051N19RikCBCerebellum28.57
46.69
D030051N19RikCTXCerebral cortex29.95
23.24
D030051N19RikHIPHippocampal region25.14
30.99
D030051N19RikHPFHippocampal formation28.22
31.08
D030051N19RikHYHypothalamus7.53
6.16
D030051N19RikLSXLateral septal complex2.41
1.99
D030051N19RikMBMidbrain7.38
7.07
D030051N19RikMYMedulla15.12
16.4
D030051N19RikOLFOlfactory bulb36.64
31.49
D030051N19RikPPons11.58
13.23
D030051N19RikPALPallidum10.96
9.63
D030051N19RikRHPRetrohippocampal region35.78
33.41
D030051N19RiksAMYStriatum-like amygdalar nuclei14.02
11.18
D030051N19RikSTRStriatum16.33
12.75
D030051N19RikSTRdStriatum dorsal region16.18
12.94
D030051N19RikSTRvStriatum ventral region22.1
15.61
D030051N19RikTHThalamus12.75
10.8
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00513387 22 1101 1122 SSQTGTEPGAAHTSSPQPSTSR 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved