AutismKB 2.0

Annotation Detail for EPB41L4A


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Basic Information Top
Gene Symbol:EPB41L4A ( DKFZp566L203,EPB41L4,FLJ38738,NBL4 )
Gene Full Name: erythrocyte membrane protein band 4.1 like 4A
Band: 5q22.1-q22.2
Quick LinksEntrez ID:64097; OMIM: 612141; Uniprot ID:E41LA_HUMAN; ENSEMBL ID: ENSG00000129595; HGNC ID: 13278
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 
blastocyst0 / 623190 
fetus19 / 56401233
neonate0 / 310970 
infant2 / 2362084
juvenile0 / 555560 
adult36 / 193912118
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) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma0 / 1068830 
head and neck tumor10 / 13630273
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal74 / 336030722
ovarian tumor6 / 7668278
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor4 / 9025744
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 marrow0 / 488010 
brain16 / 110098914
cervix1 / 4817120
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye8 / 21105437
heart2 / 8962622
intestine3 / 23447212
kidney14 / 21177766
larynx2 / 2414582
liver2 / 2077439
lung4 / 33697411
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth3 / 6705244
muscle2 / 10771518
nerve1 / 1576863
ovary5 / 10205148
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate4 / 18934521
salivary gland0 / 201550 
skin7 / 21057433
spleen0 / 539520 
stomach1 / 9661910
testis12 / 33044236
thymus0 / 811310 
thyroid6 / 47473126
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220120_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.5
Adipocyte4.6
AdrenalCortex5.45
Adrenalgland4
Amygdala4.8
Appendix4.95
AtrioventricularNode3.85
BDCA4+_DentriticCells5
Bonemarrow4.75
BronchialEpithelialCells4.6
CD105+_Endothelial4.7
CD14+_Monocytes5
CD19+_BCells(neg._sel.)5
CD33+_Myeloid5.95
CD34+5.85
CD4+_Tcells5
CD56+_NKCells5.45
CD71+_EarlyErythroid4.35
CD8+_Tcells4.35
CardiacMyocytes6.55
Caudatenucleus4.15
Cerebellum3.75
CerebellumPeduncles5.55
CiliaryGanglion3.5
CingulateCortex4.8
Colorectaladenocarcinoma4.6
DorsalRootGanglion3.7
FetalThyroid4.5
Fetalbrain4.65
Fetalliver4.05
Fetallung3.75
GlobusPallidus3.5
Heart6.45
Hypothalamus4.95
Kidney3.9
Leukemia_chronicMyelogenousK-5624.2
Leukemia_promyelocytic-HL-604.1
Leukemialymphoblastic(MOLT-4)3.75
Liver6.55
Lung5.1
Lymphnode3.95
Lymphoma_burkitts(Daudi)6.1
Lymphoma_burkitts(Raji)6.75
MedullaOblongata4.25
OccipitalLobe4.15
OlfactoryBulb3.65
Ovary3.15
Pancreas3.9
PancreaticIslet4.95
ParietalLobe5.05
Pituitary5.4
Placenta4.65
Pons4.5
PrefrontalCortex5.65
Prostate5.45
Salivarygland3.85
SkeletalMuscle6.3
Skin3.6
SmoothMuscle5.3
Spinalcord4.95
SubthalamicNucleus4.4
SuperiorCervicalGanglion5.75
TemporalLobe4.3
Testis4
TestisGermCell3.9
TestisIntersitial3.95
TestisLeydigCell4.65
TestisSeminiferousTubule4
Thalamus4.75
Thymus3.55
Thyroid5.7
Tongue7.25
Tonsil4.55
Trachea3.9
TrigeminalGanglion5.35
Uterus3.75
UterusCorpus4.65
WholeBlood5
Wholebrain3.8
colon4.65
pineal_day5.72
pineal_night5.66
retina5.625
small_intestine4.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P257579
  • 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
Amygdala5.8 ± 0.46
Basal Forebrain5.87 ± 0.3
Basal Part of Pons5.73 ± 0.46
Cerebellar Cortex5.15 ± 0.37
Cerebellar Nuclei6.25 ± 0.43
Claustrum7.2 ± 0.72
Epithalamus6.36 ± 0.47
Frontal Lobe5.81 ± 0.58
Globus Pallidus6.68 ± 0.25
Hypothalamus5.04 ± 0.71
Insula5.7 ± 0.38
Limbic Lobe6.08 ± 0.94
Mesencephalon5.79 ± 0.53
Myelencephalon5.94 ± 0.74
Occipital Lobe5.95 ± 0.63
Parietal Lobe5.91 ± 0.57
Pontine Tegmentum6.04 ± 0.56
Striatum6.96 ± 0.74
Subthalamus5.93 ± 0.16
Temporal Lobe5.65 ± 0.55
Thalamus5.83 ± 0.39
White Matter7.79 ± 0.4
Mouse Brain ISH
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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