AutismKB 2.0

Annotation Detail for EPB49


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Basic Information Top
Gene Symbol:EPB49 ( DMT,FLJ78462,FLJ98848 )
Gene Full Name: erythrocyte membrane protein band 4.9 (dematin)
Band: 8p21.1
Quick LinksEntrez ID:2039; OMIM: 125305; Uniprot ID:DEMA_HUMAN; ENSEMBL ID: ENSG00000158856; HGNC ID:
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 
fetus55 / 56401297
neonate1 / 3109732
infant0 / 236200 
juvenile9 / 55556161
adult81 / 193912141
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) tumor1 / 9417810
cervical tumor2 / 3436658
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor8 / 26384530
glioma5 / 10688346
head and neck tumor0 / 1363020 
kidney tumor8 / 68959116
leukemia7 / 9584273
liver tumor23 / 96359238
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia7 / 9725071
normal299 / 336030788
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS10 / 12568079
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood6 / 12347848
bone0 / 716550 
bone marrow2 / 4880140
brain239 / 1100989217
cervix3 / 4817162
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye18 / 21105485
heart0 / 896260 
intestine4 / 23447217
kidney12 / 21177756
larynx0 / 241450 
liver29 / 207743139
lung2 / 3369745
lymph1 / 4427022
lymph node1 / 9161010
mammary gland3 / 15327119
mouth0 / 670520 
muscle3 / 10771527
nerve4 / 15768253
ovary2 / 10205119
pancreas6 / 21481227
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen2 / 5395237
stomach2 / 9661920
testis7 / 33044221
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204505_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts20.7
Adipocyte45.65
AdrenalCortex53.05
Adrenalgland55.6
Amygdala404.5
Appendix45.35
AtrioventricularNode65.9
BDCA4+_DentriticCells22.9
Bonemarrow334.75
BronchialEpithelialCells30
CD105+_Endothelial183.35
CD14+_Monocytes28.15
CD19+_BCells(neg._sel.)29.5
CD33+_Myeloid28.1
CD34+33.9
CD4+_Tcells44.1
CD56+_NKCells19.35
CD71+_EarlyErythroid1123
CD8+_Tcells28.85
CardiacMyocytes36.35
Caudatenucleus326.55
Cerebellum120.85
CerebellumPeduncles164.2
CiliaryGanglion44.4
CingulateCortex261.05
Colorectaladenocarcinoma87.45
DorsalRootGanglion61.45
FetalThyroid100.5
Fetalbrain156.8
Fetalliver218.3
Fetallung71.8
GlobusPallidus221.4
Heart131.45
Hypothalamus114.15
Kidney75.6
Leukemia_chronicMyelogenousK-562128.4
Leukemia_promyelocytic-HL-6029.1
Leukemialymphoblastic(MOLT-4)26.6
Liver107.7
Lung71.55
Lymphnode28.45
Lymphoma_burkitts(Daudi)48.55
Lymphoma_burkitts(Raji)45.15
MedullaOblongata204.45
OccipitalLobe197.65
OlfactoryBulb48.5
Ovary33.25
Pancreas36.7
PancreaticIslet97.75
ParietalLobe202.65
Pituitary138.65
Placenta31.35
Pons305.9
PrefrontalCortex639.1
Prostate57.85
Salivarygland30.4
SkeletalMuscle40.05
Skin59.1
SmoothMuscle29.85
Spinalcord81.35
SubthalamicNucleus302.7
SuperiorCervicalGanglion33.85
TemporalLobe350.2
Testis24.55
TestisGermCell26.7
TestisIntersitial40.85
TestisLeydigCell48.75
TestisSeminiferousTubule28.95
Thalamus184.8
Thymus24.1
Thyroid108.45
Tongue74.7
Tonsil39.55
Trachea28.95
TrigeminalGanglion67.3
Uterus21.05
UterusCorpus24.3
WholeBlood70.3
Wholebrain445.9
colon20.8
pineal_day56.14
pineal_night41.42
retina49.4
small_intestine16.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P219117
  • 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
Amygdala6.21 ± 0.66
Basal Forebrain5.07 ± 0.7
Basal Part of Pons5.72 ± 0.7
Cerebellar Cortex5.21 ± 0.38
Cerebellar Nuclei4.75 ± 0.55
Claustrum6.05 ± 0.59
Epithalamus4.63 ± 0.72
Frontal Lobe5.6 ± 0.58
Globus Pallidus3.78 ± 0.81
Hypothalamus4.97 ± 0.73
Insula5.76 ± 0.31
Limbic Lobe5.77 ± 0.54
Mesencephalon5.32 ± 0.63
Myelencephalon5.43 ± 0.69
Occipital Lobe4.99 ± 0.65
Parietal Lobe5.6 ± 0.61
Pontine Tegmentum5.36 ± 0.54
Striatum5.44 ± 0.69
Subthalamus4.95 ± 0.36
Temporal Lobe5.86 ± 0.48
Thalamus5.23 ± 0.59
White Matter2.83 ± 0.94
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00032332 16 52 67 AILDIERPDLMIYEPH 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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