AutismKB 2.0

Annotation Detail for EPB41


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Basic Information Top
Gene Symbol:EPB41 ( 4.1R,EL1,HE )
Gene Full Name: erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)
Band: 1p35.3
Quick LinksEntrez ID:2035; OMIM: 130500; Uniprot ID:41_HUMAN; ENSEMBL ID: ENSG00000159023; HGNC ID: 3377
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 body4 / 7076156
blastocyst7 / 62319112
fetus57 / 564012101
neonate1 / 3109732
infant0 / 236200 
juvenile3 / 5555653
adult114 / 193912158
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) tumor14 / 94178148
cervical tumor1 / 3436629
chondrosarcoma5 / 8282360
colorectal tumor4 / 11424635
esophageal tumor1 / 1729057
gastrointestinal tumor8 / 11936967
germ cell tumor16 / 26384560
glioma2 / 10688318
head and neck tumor4 / 13630229
kidney tumor8 / 68959116
leukemia7 / 9584273
liver tumor2 / 9635920
lung tumor5 / 10312748
lymphoma6 / 7175583
non-neoplasia2 / 9725020
normal206 / 336030761
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer1 / 1026809
retinoblastoma7 / 46356151
skin tumor4 / 12494932
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites2 / 4001549
bladder1 / 2975733
blood7 / 12347856
bone8 / 71655111
bone marrow5 / 48801102
brain28 / 110098925
cervix2 / 4817141
connective tissue2 / 14925513
ear2 / 16212123
embryonic tissue20 / 21572292
esophagus1 / 2020949
eye32 / 211054151
heart6 / 8962666
intestine14 / 23447259
kidney13 / 21177761
larynx3 / 24145124
liver42 / 207743202
lung22 / 33697465
lymph2 / 4427045
lymph node25 / 91610272
mammary gland14 / 15327191
mouth1 / 6705214
muscle6 / 10771555
nerve0 / 157680 
ovary1 / 1020519
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta7 / 28082524
prostate6 / 18934531
salivary gland0 / 201550 
skin23 / 210574109
spleen1 / 5395218
stomach9 / 9661993
testis10 / 33044230
thymus8 / 8113198
thyroid0 / 474730 
tonsil1 / 1699958
trachea1 / 5241319
umbilical cord0 / 136800 
uterus5 / 23287821
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214530_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.9
Adipocyte4.55
AdrenalCortex5.4
Adrenalgland3.85
Amygdala4.8
Appendix4.6
AtrioventricularNode3.5
BDCA4+_DentriticCells5.15
Bonemarrow8.15
BronchialEpithelialCells4.45
CD105+_Endothelial4.65
CD14+_Monocytes4.95
CD19+_BCells(neg._sel.)4.95
CD33+_Myeloid5.85
CD34+5.8
CD4+_Tcells5.35
CD56+_NKCells5.55
CD71+_EarlyErythroid103.35
CD8+_Tcells7.9
CardiacMyocytes5.7
Caudatenucleus4.05
Cerebellum3.75
CerebellumPeduncles5.4
CiliaryGanglion3.2
CingulateCortex4.65
Colorectaladenocarcinoma4.5
DorsalRootGanglion4.1
FetalThyroid4.65
Fetalbrain4.5
Fetalliver7.8
Fetallung3.8
GlobusPallidus3.4
Heart6.15
Hypothalamus4.95
Kidney3.7
Leukemia_chronicMyelogenousK-5624.15
Leukemia_promyelocytic-HL-604.05
Leukemialymphoblastic(MOLT-4)3.7
Liver6.75
Lung4.9
Lymphnode4
Lymphoma_burkitts(Daudi)5.8
Lymphoma_burkitts(Raji)6.35
MedullaOblongata4.2
OccipitalLobe4.15
OlfactoryBulb3.65
Ovary3
Pancreas3.7
PancreaticIslet4.9
ParietalLobe5.95
Pituitary5.35
Placenta4.75
Pons4.85
PrefrontalCortex5.7
Prostate5.2
Salivarygland3.6
SkeletalMuscle8.35
Skin3.55
SmoothMuscle5.15
Spinalcord4.9
SubthalamicNucleus4.15
SuperiorCervicalGanglion5.2
TemporalLobe4.2
Testis6.25
TestisGermCell3.85
TestisIntersitial3.85
TestisLeydigCell4.5
TestisSeminiferousTubule3.9
Thalamus4.65
Thymus3.65
Thyroid5.65
Tongue4.4
Tonsil4.45
Trachea3.85
TrigeminalGanglion4.45
Uterus3.7
UterusCorpus4.15
WholeBlood5.05
Wholebrain3.95
colon4.6
pineal_day5.72
pineal_night5.6
retina5.425
small_intestine4.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P160359
  • 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
Amygdala6 ± 0.73
Basal Forebrain6.99 ± 0.55
Basal Part of Pons7.04 ± 0.45
Cerebellar Cortex7.25 ± 0.46
Cerebellar Nuclei6.86 ± 0.35
Claustrum6.76 ± 0.35
Epithalamus6.54 ± 1.73
Frontal Lobe6.03 ± 0.61
Globus Pallidus6.52 ± 0.98
Hypothalamus6.92 ± 0.29
Insula5.89 ± 0.39
Limbic Lobe5.66 ± 0.58
Mesencephalon6.73 ± 0.75
Myelencephalon6.45 ± 0.69
Occipital Lobe7.15 ± 0.85
Parietal Lobe6.58 ± 0.63
Pontine Tegmentum6.43 ± 0.62
Striatum7.92 ± 1.48
Subthalamus7.56 ± 0.32
Temporal Lobe6.03 ± 0.55
Thalamus6.49 ± 0.49
White Matter5.36 ± 0.37
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
41_HUMAN_519 15 519 533 QASALIDRPAPHFER PRIDE
41_HUMAN_852 12 852 863 VVVHQETEIADE PRIDE
PAp00008697 12 764 775 VVVHQETEIADE 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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