AutismKB 2.0

Annotation Detail for EIF4A3


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Basic Information Top
Gene Symbol:EIF4A3 ( DDX48,DKFZp686O16189,KIAA0111,MGC10862,NMP265,NUK34,eIF4AIII )
Gene Full Name: eukaryotic translation initiation factor 4A3
Band: 17q25.3
Quick LinksEntrez ID:9775; OMIM: 608546; Uniprot ID:IF4A3_HUMAN; ENSEMBL ID: ENSG00000141543; HGNC ID: 18683
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 body6 / 7076184
blastocyst13 / 62319208
fetus36 / 56401263
neonate2 / 3109764
infant6 / 23620254
juvenile13 / 55556233
adult207 / 1939121106
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) tumor8 / 9417884
cervical tumor8 / 34366232
chondrosarcoma9 / 82823108
colorectal tumor21 / 114246183
esophageal tumor2 / 17290115
gastrointestinal tumor25 / 119369209
germ cell tumor31 / 263845117
glioma8 / 10688374
head and neck tumor9 / 13630266
kidney tumor4 / 6895958
leukemia12 / 95842125
liver tumor7 / 9635972
lung tumor29 / 103127281
lymphoma24 / 71755334
non-neoplasia3 / 9725030
normal271 / 336030780
ovarian tumor15 / 76682195
pancreatic tumor16 / 104616152
primitive neuroectodermal tumor of the CNS15 / 125680119
prostate cancer13 / 102680126
retinoblastoma16 / 46356345
skin tumor29 / 124949232
soft tissue/muscle tissue tumor21 / 125191167
uterine tumor15 / 90257166
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland4 / 33197120
ascites9 / 40015224
bladder1 / 2975733
blood18 / 123478145
bone13 / 71655181
bone marrow1 / 4880120
brain54 / 110098949
cervix8 / 48171166
connective tissue2 / 14925513
ear3 / 16212185
embryonic tissue26 / 215722120
esophagus4 / 20209197
eye22 / 211054104
heart5 / 8962655
intestine33 / 234472140
kidney12 / 21177756
larynx0 / 241450 
liver11 / 20774352
lung58 / 336974172
lymph16 / 44270361
lymph node17 / 91610185
mammary gland20 / 153271130
mouth5 / 6705274
muscle10 / 10771592
nerve1 / 1576863
ovary19 / 102051186
pancreas29 / 214812135
parathyroid4 / 20539194
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta43 / 280825153
prostate22 / 189345116
salivary gland0 / 201550 
skin34 / 210574161
spleen1 / 5395218
stomach12 / 96619124
testis21 / 33044263
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord2 / 13680146
uterus31 / 232878133
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201303_at
Cell line Expression level Expression bar
721_B_lymphoblasts1068.3
Adipocyte328.6
AdrenalCortex1167.75
Adrenalgland367.5
Amygdala234.5
Appendix95.4
AtrioventricularNode143.9
BDCA4+_DentriticCells1273.1
Bonemarrow341.45
BronchialEpithelialCells598.2
CD105+_Endothelial568.2
CD14+_Monocytes498.25
CD19+_BCells(neg._sel.)302.1
CD33+_Myeloid676.25
CD34+1031.8
CD4+_Tcells323.8
CD56+_NKCells439.6
CD71+_EarlyErythroid382.7
CD8+_Tcells296.9
CardiacMyocytes373.55
Caudatenucleus207.95
Cerebellum172.15
CerebellumPeduncles248.85
CiliaryGanglion155.55
CingulateCortex147.6
Colorectaladenocarcinoma574.15
DorsalRootGanglion174.95
FetalThyroid487.1
Fetalbrain366.3
Fetalliver211.3
Fetallung435.8
GlobusPallidus124.6
Heart256.45
Hypothalamus313.5
Kidney229
Leukemia_chronicMyelogenousK-562451.85
Leukemia_promyelocytic-HL-60741.65
Leukemialymphoblastic(MOLT-4)608.35
Liver232.95
Lung551.8
Lymphnode303.65
Lymphoma_burkitts(Daudi)1041
Lymphoma_burkitts(Raji)1345.95
MedullaOblongata133.5
OccipitalLobe177.1
OlfactoryBulb342.85
Ovary252.55
Pancreas259.85
PancreaticIslet479.9
ParietalLobe124.45
Pituitary438.65
Placenta968.55
Pons132.65
PrefrontalCortex181.4
Prostate667.7
Salivarygland174.8
SkeletalMuscle106.4
Skin245.05
SmoothMuscle477.85
Spinalcord241.15
SubthalamicNucleus167.55
SuperiorCervicalGanglion111.4
TemporalLobe107.3
Testis607.2
TestisGermCell463.65
TestisIntersitial545.1
TestisLeydigCell366.75
TestisSeminiferousTubule467.85
Thalamus220.4
Thymus591.15
Thyroid444.75
Tongue244.05
Tonsil480.8
Trachea221.65
TrigeminalGanglion143.8
Uterus244.8
UterusCorpus222.45
WholeBlood402.2
Wholebrain182.05
colon313.45
pineal_day330.48
pineal_night390.66
retina295.725
small_intestine262.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6481_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
Amygdala5.9 ± 0.32
Basal Forebrain5.91 ± 0.21
Basal Part of Pons5.96 ± 0.39
Cerebellar Cortex6.12 ± 0.26
Cerebellar Nuclei6.24 ± 0.28
Claustrum5.99 ± 0.5
Epithalamus6.18 ± 0.52
Frontal Lobe5.86 ± 0.35
Globus Pallidus6.19 ± 0.36
Hypothalamus5.96 ± 0.52
Insula6.02 ± 0.25
Limbic Lobe5.93 ± 0.36
Mesencephalon5.84 ± 0.43
Myelencephalon5.86 ± 0.38
Occipital Lobe6.07 ± 0.36
Parietal Lobe5.83 ± 0.34
Pontine Tegmentum5.97 ± 0.31
Striatum5.93 ± 0.32
Subthalamus5.81 ± 0.12
Temporal Lobe5.95 ± 0.33
Thalamus5.96 ± 0.25
White Matter6.82 ± 0.17
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ddx48CBCerebellum47.19
48.45
Ddx48CTXCerebral cortex61.34
57.93
Ddx48HIPHippocampal region57.46
64.52
Ddx48HPFHippocampal formation67.89
62.54
Ddx48HYHypothalamus64.85
42.46
Ddx48LSXLateral septal complex55.25
52.51
Ddx48MBMidbrain46.91
37.97
Ddx48MYMedulla53.33
54.54
Ddx48OLFOlfactory bulb67.82
60
Ddx48PPons55.48
57.02
Ddx48PALPallidum55.88
43.08
Ddx48RHPRetrohippocampal region65.32
58.78
Ddx48sAMYStriatum-like amygdalar nuclei72.96
54.09
Ddx48STRStriatum58.72
42.04
Ddx48STRdStriatum dorsal region55.39
36.84
Ddx48STRvStriatum ventral region67.9
51.05
Ddx48THThalamus51.42
42.7
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
IF4A3_HUMAN_1 13 1 13 ATTATMATSGSAR PRIDE
IF4A3_HUMAN_151 15 151 165 KLDYGQHVVAGTPGR PRIDE
IF4A3_HUMAN_182 13 182 194 MLVLDEADEMLNK PRIDE
IF4A3_HUMAN_2 13 2 14 ATTATMATSGSAR PRIDE
IF4A3_HUMAN_206 25 206 230 YLPPATQVVLISATLPHEILEMTNK PRIDE
IF4A3_HUMAN_26 21 26 46 VEFETSEEVDVTPTFDTMGLR PRIDE
IF4A3_HUMAN_289 8 289 296 KVDWLTEK PRIDE
IF4A3_HUMAN_299 16 299 314 EANFTVSSMHGDMPQK PRIDE
IF4A3_HUMAN_51 16 51 66 GIYAYGFEKPSAIQQR PRIDE
IF4A3_HUMAN_54 13 54 66 AYGFEKPSAIQQR PRIDE
PAp00002912 16 52 67 GIYAYGFEKPSAIQQR 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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