AutismKB 2.0

Annotation Detail for EPB41L3


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Basic Information Top
Gene Symbol:EPB41L3 ( 4.1B,DAL-1,DAL1,FLJ37633,KIAA0987 )
Gene Full Name: erythrocyte membrane protein band 4.1-like 3
Band: 18p11.31
Quick LinksEntrez ID:23136; OMIM: 605331; Uniprot ID:E41L3_HUMAN; ENSEMBL ID: ENSG00000082397; HGNC ID: 3380
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 body3 / 7076142
blastocyst1 / 6231916
fetus32 / 56401256
neonate0 / 310970 
infant0 / 236200 
juvenile7 / 55556125
adult94 / 193912148
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 tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor9 / 26384534
glioma1 / 1068839
head and neck tumor2 / 13630214
kidney tumor16 / 68959232
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor14 / 103127135
lymphoma2 / 7175527
non-neoplasia11 / 97250113
normal328 / 336030797
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor6 / 12494948
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue4 / 13106305
adrenal gland5 / 33197150
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain198 / 1100989179
cervix0 / 481710 
connective tissue11 / 14925573
ear3 / 16212185
embryonic tissue7 / 21572232
esophagus1 / 2020949
eye11 / 21105452
heart1 / 8962611
intestine6 / 23447225
kidney27 / 211777127
larynx1 / 2414541
liver0 / 2077430 
lung20 / 33697459
lymph0 / 442700 
lymph node2 / 9161021
mammary gland5 / 15327132
mouth1 / 6705214
muscle1 / 1077159
nerve7 / 15768443
ovary1 / 1020519
pancreas11 / 21481251
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta30 / 280825106
prostate1 / 1893455
salivary gland0 / 201550 
skin9 / 21057442
spleen0 / 539520 
stomach1 / 9661910
testis73 / 330442220
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus3 / 23287812
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212681_at
Cell line Expression level Expression bar
721_B_lymphoblasts8
Adipocyte42.85
AdrenalCortex22.3
Adrenalgland23.9
Amygdala288.7
Appendix28.55
AtrioventricularNode13
BDCA4+_DentriticCells11.55
Bonemarrow13.2
BronchialEpithelialCells8.6
CD105+_Endothelial11.1
CD14+_Monocytes69.15
CD19+_BCells(neg._sel.)10.9
CD33+_Myeloid57.95
CD34+13.5
CD4+_Tcells9.85
CD56+_NKCells12.95
CD71+_EarlyErythroid11.15
CD8+_Tcells9.75
CardiacMyocytes22.7
Caudatenucleus76.15
Cerebellum48.75
CerebellumPeduncles85.3
CiliaryGanglion18.95
CingulateCortex202.2
Colorectaladenocarcinoma9.3
DorsalRootGanglion24.05
FetalThyroid14.35
Fetalbrain34.35
Fetalliver9.65
Fetallung8.55
GlobusPallidus66.55
Heart21.05
Hypothalamus457.85
Kidney12.95
Leukemia_chronicMyelogenousK-56210.1
Leukemia_promyelocytic-HL-608.25
Leukemialymphoblastic(MOLT-4)7.25
Liver19.1
Lung13.95
Lymphnode9.65
Lymphoma_burkitts(Daudi)15.45
Lymphoma_burkitts(Raji)18.25
MedullaOblongata129.95
OccipitalLobe144.2
OlfactoryBulb11.7
Ovary9.3
Pancreas9.45
PancreaticIslet43.6
ParietalLobe131
Pituitary37.7
Placenta40.3
Pons57
PrefrontalCortex355.75
Prostate12.7
Salivarygland9.85
SkeletalMuscle19.25
Skin17.7
SmoothMuscle23.4
Spinalcord396.8
SubthalamicNucleus73.75
SuperiorCervicalGanglion24.25
TemporalLobe37.55
Testis10.45
TestisGermCell28.7
TestisIntersitial11.25
TestisLeydigCell13.25
TestisSeminiferousTubule11.25
Thalamus287.3
Thymus8.3
Thyroid11.85
Tongue14.7
Tonsil11.5
Trachea9.4
TrigeminalGanglion16.5
Uterus13.35
UterusCorpus12.75
WholeBlood18.8
Wholebrain232.25
colon75
pineal_day356.92
pineal_night469.34
retina109.825
small_intestine125.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12252_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
Amygdala8.19 ± 0.44
Basal Forebrain8.83 ± 0.42
Basal Part of Pons9.63 ± 0.32
Cerebellar Cortex8.99 ± 0.3
Cerebellar Nuclei9.74 ± 0.15
Claustrum8.16 ± 0.46
Epithalamus8.56 ± 0.53
Frontal Lobe8.92 ± 0.54
Globus Pallidus10.04 ± 0.3
Hypothalamus8.69 ± 0.26
Insula8.5 ± 0.31
Limbic Lobe8.72 ± 0.49
Mesencephalon9 ± 0.59
Myelencephalon9 ± 0.55
Occipital Lobe9.23 ± 0.4
Parietal Lobe9.11 ± 0.42
Pontine Tegmentum9.04 ± 0.53
Striatum8.6 ± 0.53
Subthalamus9.49 ± 0.16
Temporal Lobe8.89 ± 0.38
Thalamus9.58 ± 0.38
White Matter11.23 ± 0.58
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Epb4.1l3CBCerebellum100
100
Epb4.1l3CTXCerebral cortex100
100
Epb4.1l3HIPHippocampal region86.35
100
Epb4.1l3HPFHippocampal formation100
100
Epb4.1l3HYHypothalamus100
100
Epb4.1l3LSXLateral septal complex100
100
Epb4.1l3MBMidbrain100
100
Epb4.1l3MYMedulla100
100
Epb4.1l3OLFOlfactory bulb100
100
Epb4.1l3PPons100
100
Epb4.1l3PALPallidum100
100
Epb4.1l3RHPRetrohippocampal region100
100
Epb4.1l3sAMYStriatum-like amygdalar nuclei100
100
Epb4.1l3STRStriatum100
100
Epb4.1l3STRdStriatum dorsal region100
100
Epb4.1l3STRvStriatum ventral region100
100
Epb4.1l3THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00035035 16 351 366 IRPGEFEQFESTIGFK 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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