AutismKB 2.0

Annotation Detail for ANKHD1-EIF4EBP3


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Basic Information Top
Gene Symbol:ANKHD1-EIF4EBP3 ( MASK-BP3,MASK-BP3ARF )
Gene Full Name: ANKHD1-EIF4EBP3 readthrough
Band: 5q31.3
Quick LinksEntrez ID:404734; OMIM: NA; Uniprot ID:Q8IWZ2_HUMAN; ENSEMBL ID: ENSG00000131503,ENSG00000249536; HGNC ID: 33530
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208772_at
Cell line Expression level Expression bar
721_B_lymphoblasts256.75
Adipocyte70.55
AdrenalCortex185.2
Adrenalgland41.25
Amygdala53.6
Appendix51.6
AtrioventricularNode23
BDCA4+_DentriticCells300.6
Bonemarrow50.6
BronchialEpithelialCells97.6
CD105+_Endothelial236.25
CD14+_Monocytes216.3
CD19+_BCells(neg._sel.)328.9
CD33+_Myeloid504.2
CD34+389.05
CD4+_Tcells397.4
CD56+_NKCells351.2
CD71+_EarlyErythroid146.95
CD8+_Tcells402.25
CardiacMyocytes56.95
Caudatenucleus43.5
Cerebellum41
CerebellumPeduncles58.95
CiliaryGanglion31.05
CingulateCortex72.65
Colorectaladenocarcinoma88.15
DorsalRootGanglion30.8
FetalThyroid132.15
Fetalbrain45.95
Fetalliver55.75
Fetallung43.75
GlobusPallidus32.1
Heart71.55
Hypothalamus57.15
Kidney42
Leukemia_chronicMyelogenousK-56273.1
Leukemia_promyelocytic-HL-6076.2
Leukemialymphoblastic(MOLT-4)84.75
Liver60.9
Lung39.7
Lymphnode70.85
Lymphoma_burkitts(Daudi)140
Lymphoma_burkitts(Raji)83.5
MedullaOblongata60.35
OccipitalLobe61.85
OlfactoryBulb75.7
Ovary48.8
Pancreas118.55
PancreaticIslet143.45
ParietalLobe68.8
Pituitary139.65
Placenta38.05
Pons44.05
PrefrontalCortex119.05
Prostate210.6
Salivarygland50.85
SkeletalMuscle80.2
Skin22.4
SmoothMuscle69.8
Spinalcord34.75
SubthalamicNucleus45.1
SuperiorCervicalGanglion57.1
TemporalLobe42.2
Testis38.1
TestisGermCell73.75
TestisIntersitial81
TestisLeydigCell72.5
TestisSeminiferousTubule73.35
Thalamus36.9
Thymus72.5
Thyroid120.55
Tongue125.25
Tonsil171.9
Trachea52.45
TrigeminalGanglion39.05
Uterus110.3
UterusCorpus48.45
WholeBlood85.65
Wholebrain39.2
colon138.6
pineal_day135.6
pineal_night128.88
retina82.125
small_intestine51.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7560_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
Amygdala4.42 ± 0.41
Basal Forebrain4.59 ± 0.47
Basal Part of Pons4.32 ± 0.66
Cerebellar Cortex4.21 ± 0.41
Cerebellar Nuclei4.17 ± 0.64
Claustrum4.1 ± 0.84
Epithalamus5.06 ± 0.55
Frontal Lobe4.45 ± 0.48
Globus Pallidus5.15 ± 0.29
Hypothalamus4.49 ± 0.65
Insula4.28 ± 0.41
Limbic Lobe4.23 ± 0.49
Mesencephalon4.53 ± 0.5
Myelencephalon4.42 ± 0.53
Occipital Lobe4.33 ± 0.39
Parietal Lobe4.4 ± 0.54
Pontine Tegmentum4.45 ± 0.51
Striatum4.84 ± 0.5
Subthalamus4.33 ± 0.43
Temporal Lobe4.39 ± 0.48
Thalamus4.49 ± 0.49
White Matter3.8 ± 0.57
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00005399 18 175 192 LTSSVSCALDEAAAALTR Peptide Atlas

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  (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