AutismKB 2.0

Annotation Detail for EFR3A


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Basic Information Top
Gene Symbol:EFR3A ( DKFZp781J0562,KIAA0143 )
Gene Full Name: EFR3 homolog A (S. cerevisiae)
Band: 8q24.22
Quick LinksEntrez ID:23167; OMIM: 611798; Uniprot ID:EFR3A_HUMAN; ENSEMBL ID: ENSG00000132294; HGNC ID: 28970
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 body5 / 7076170
blastocyst4 / 6231964
fetus33 / 56401258
neonate3 / 3109796
infant0 / 236200 
juvenile2 / 5555635
adult146 / 193912175
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor3 / 9417831
cervical tumor3 / 3436687
chondrosarcoma24 / 82823289
colorectal tumor3 / 11424626
esophageal tumor2 / 17290115
gastrointestinal tumor8 / 11936967
germ cell tumor13 / 26384549
glioma3 / 10688328
head and neck tumor4 / 13630229
kidney tumor2 / 6895929
leukemia6 / 9584262
liver tumor7 / 9635972
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia3 / 9725030
normal216 / 336030764
ovarian tumor1 / 7668213
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor7 / 12494956
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites4 / 4001599
bladder3 / 29757100
blood7 / 12347856
bone17 / 71655237
bone marrow3 / 4880161
brain50 / 110098945
cervix3 / 4817162
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus3 / 20209148
eye20 / 21105494
heart3 / 8962633
intestine8 / 23447234
kidney18 / 21177784
larynx1 / 2414541
liver15 / 20774372
lung13 / 33697438
lymph1 / 4427022
lymph node13 / 91610141
mammary gland6 / 15327139
mouth3 / 6705244
muscle12 / 107715111
nerve0 / 157680 
ovary1 / 1020519
pancreas21 / 21481297
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland3 / 16585180
placenta18 / 28082564
prostate7 / 18934536
salivary gland1 / 2015549
skin18 / 21057485
spleen0 / 539520 
stomach3 / 9661931
testis17 / 33044251
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus18 / 23287877
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212149_at
Cell line Expression level Expression bar
721_B_lymphoblasts168
Adipocyte165.9
AdrenalCortex35.25
Adrenalgland100.2
Amygdala925.9
Appendix75.65
AtrioventricularNode14.35
BDCA4+_DentriticCells56.3
Bonemarrow8.55
BronchialEpithelialCells122.7
CD105+_Endothelial95.45
CD14+_Monocytes49.15
CD19+_BCells(neg._sel.)56.85
CD33+_Myeloid154.75
CD34+95.9
CD4+_Tcells118.9
CD56+_NKCells138.15
CD71+_EarlyErythroid8.05
CD8+_Tcells136.9
CardiacMyocytes14.65
Caudatenucleus49.8
Cerebellum227.65
CerebellumPeduncles281.6
CiliaryGanglion12.05
CingulateCortex355.45
Colorectaladenocarcinoma34.15
DorsalRootGanglion14.8
FetalThyroid78.8
Fetalbrain39.45
Fetalliver94.8
Fetallung57.3
GlobusPallidus185.55
Heart11.3
Hypothalamus380.8
Kidney27.65
Leukemia_chronicMyelogenousK-56217.8
Leukemia_promyelocytic-HL-6067.05
Leukemialymphoblastic(MOLT-4)35.45
Liver12.8
Lung23.05
Lymphnode134.9
Lymphoma_burkitts(Daudi)82.65
Lymphoma_burkitts(Raji)69.35
MedullaOblongata287.75
OccipitalLobe283.7
OlfactoryBulb47.45
Ovary6.65
Pancreas82.25
PancreaticIslet168.55
ParietalLobe142.9
Pituitary276.65
Placenta135.6
Pons84.85
PrefrontalCortex1109.55
Prostate374
Salivarygland96.55
SkeletalMuscle21
Skin20.3
SmoothMuscle141.55
Spinalcord113
SubthalamicNucleus279.1
SuperiorCervicalGanglion22.7
TemporalLobe169.6
Testis57.25
TestisGermCell97.8
TestisIntersitial54.45
TestisLeydigCell57.25
TestisSeminiferousTubule54.75
Thalamus257.7
Thymus39.75
Thyroid796.2
Tongue30.8
Tonsil68.55
Trachea157.45
TrigeminalGanglion11.5
Uterus428.55
UterusCorpus37.9
WholeBlood105.05
Wholebrain379.6
colon414.1
pineal_day1658.3
pineal_night1730.76
retina138.2
small_intestine286.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_460_PI416573500
  • 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
Amygdala7.16 ± 0.34
Basal Forebrain6.33 ± 0.47
Basal Part of Pons7.93 ± 0.28
Cerebellar Cortex7.01 ± 0.54
Cerebellar Nuclei7.1 ± 0.44
Claustrum7.59 ± 0.47
Epithalamus6.52 ± 0.33
Frontal Lobe6.85 ± 0.58
Globus Pallidus6.21 ± 0.33
Hypothalamus6.5 ± 0.32
Insula6.84 ± 0.43
Limbic Lobe7.28 ± 0.59
Mesencephalon6.58 ± 0.6
Myelencephalon6.81 ± 0.68
Occipital Lobe7.32 ± 0.37
Parietal Lobe7.08 ± 0.53
Pontine Tegmentum6.69 ± 0.37
Striatum5.87 ± 0.48
Subthalamus6.85 ± 0.51
Temporal Lobe6.86 ± 0.45
Thalamus6.71 ± 0.42
White Matter5.39 ± 0.54
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
C920006C10RikCBCerebellum27.33
90.05
C920006C10RikCTXCerebral cortex93.42
85.52
C920006C10RikHIPHippocampal region53.87
86.27
C920006C10RikHPFHippocampal formation87.38
97.64
C920006C10RikHYHypothalamus14.67
12.7
C920006C10RikLSXLateral septal complex13.11
6.73
C920006C10RikMBMidbrain33.04
31.96
C920006C10RikMYMedulla41.34
63.3
C920006C10RikOLFOlfactory bulb59.25
51.16
C920006C10RikPPons45.94
67.99
C920006C10RikPALPallidum22.02
20.65
C920006C10RikRHPRetrohippocampal region100
100
C920006C10RiksAMYStriatum-like amygdalar nuclei13.35
10.67
C920006C10RikSTRStriatum8.56
6.8
C920006C10RikSTRdStriatum dorsal region6.76
5.48
C920006C10RikSTRvStriatum ventral region8.14
6.48
C920006C10RikTHThalamus27.27
24.81
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00508441 13 126 138 FANIEEDTPSYHR 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


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