AutismKB 2.0

Annotation Detail for EPB41L1


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Basic Information Top
Gene Symbol:EPB41L1 ( 4.1N,DKFZp686H17242,KIAA0338,MGC11072 )
Gene Full Name: erythrocyte membrane protein band 4.1-like 1
Band: 20q11.23
Quick LinksEntrez ID:2036; OMIM: 602879; Uniprot ID:E41L1_HUMAN; ENSEMBL ID: ENSG00000088367; HGNC ID: 3378
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 body1 / 7076114
blastocyst5 / 6231980
fetus41 / 56401272
neonate0 / 310970 
infant0 / 236200 
juvenile4 / 5555671
adult183 / 193912194
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor6 / 9417863
cervical tumor3 / 3436687
chondrosarcoma5 / 8282360
colorectal tumor12 / 114246105
esophageal tumor0 / 172900 
gastrointestinal tumor10 / 11936983
germ cell tumor12 / 26384545
glioma12 / 106883112
head and neck tumor16 / 136302117
kidney tumor3 / 6895943
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor12 / 103127116
lymphoma0 / 717550 
non-neoplasia13 / 97250133
normal208 / 336030761
ovarian tumor28 / 76682365
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor6 / 12494948
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites5 / 40015124
bladder2 / 2975767
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain124 / 1100989112
cervix6 / 48171124
connective tissue8 / 14925553
ear1 / 1621261
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye24 / 211054113
heart3 / 8962633
intestine21 / 23447289
kidney30 / 211777141
larynx8 / 24145331
liver6 / 20774328
lung40 / 336974118
lymph0 / 442700 
lymph node0 / 916100 
mammary gland14 / 15327191
mouth9 / 67052134
muscle2 / 10771518
nerve3 / 15768190
ovary29 / 102051284
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta4 / 28082514
prostate7 / 18934536
salivary gland0 / 201550 
skin6 / 21057428
spleen0 / 539520 
stomach8 / 9661982
testis6 / 33044218
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus7 / 23287830
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212336_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.1
Adipocyte5.7
AdrenalCortex19
Adrenalgland84.1
Amygdala29.85
Appendix6.15
AtrioventricularNode4.75
BDCA4+_DentriticCells5.15
Bonemarrow6.05
BronchialEpithelialCells5.65
CD105+_Endothelial5.9
CD14+_Monocytes6.35
CD19+_BCells(neg._sel.)5.8
CD33+_Myeloid6.35
CD34+7.2
CD4+_Tcells5.95
CD56+_NKCells6.15
CD71+_EarlyErythroid5.75
CD8+_Tcells5.35
CardiacMyocytes8.45
Caudatenucleus17.35
Cerebellum4.95
CerebellumPeduncles7.5
CiliaryGanglion4.4
CingulateCortex7.9
Colorectaladenocarcinoma7.25
DorsalRootGanglion4.75
FetalThyroid5.95
Fetalbrain6.05
Fetalliver4.95
Fetallung5
GlobusPallidus4.95
Heart8
Hypothalamus15.05
Kidney8.1
Leukemia_chronicMyelogenousK-5625.45
Leukemia_promyelocytic-HL-605.35
Leukemialymphoblastic(MOLT-4)4.25
Liver8.15
Lung6.7
Lymphnode4.5
Lymphoma_burkitts(Daudi)7.7
Lymphoma_burkitts(Raji)8.6
MedullaOblongata5.9
OccipitalLobe5.5
OlfactoryBulb4.8
Ovary4
Pancreas4.95
PancreaticIslet6.5
ParietalLobe8.4
Pituitary7.15
Placenta6.2
Pons5.8
PrefrontalCortex70.1
Prostate7.05
Salivarygland4.75
SkeletalMuscle7.15
Skin4.8
SmoothMuscle6.25
Spinalcord7.35
SubthalamicNucleus5.6
SuperiorCervicalGanglion7.05
TemporalLobe11.5
Testis5.15
TestisGermCell4.95
TestisIntersitial5.1
TestisLeydigCell6
TestisSeminiferousTubule5.25
Thalamus6.95
Thymus4.15
Thyroid8.35
Tongue6.05
Tonsil5.75
Trachea5.05
TrigeminalGanglion7.4
Uterus4.65
UterusCorpus5.45
WholeBlood5.9
Wholebrain17.6
colon8.1
pineal_day24.58
pineal_night25.54
retina46
small_intestine6.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P154806
  • 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
Amygdala12.33 ± 0.17
Basal Forebrain12.1 ± 0.1
Basal Part of Pons12.18 ± 0.29
Cerebellar Cortex11.84 ± 0.19
Cerebellar Nuclei12.64 ± 0.37
Claustrum12.66 ± 0.37
Epithalamus11.76 ± 0.34
Frontal Lobe12.05 ± 0.33
Globus Pallidus12.23 ± 0.24
Hypothalamus12.23 ± 0.26
Insula12.2 ± 0.24
Limbic Lobe12.2 ± 0.28
Mesencephalon12.24 ± 0.33
Myelencephalon12.11 ± 0.3
Occipital Lobe12.47 ± 0.24
Parietal Lobe12.27 ± 0.25
Pontine Tegmentum12.23 ± 0.33
Striatum12.47 ± 0.28
Subthalamus12.51 ± 0.1
Temporal Lobe12.09 ± 0.25
Thalamus11.86 ± 0.27
White Matter11.96 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Epb4.1l1CBCerebellum100
100
Epb4.1l1CTXCerebral cortex100
100
Epb4.1l1HIPHippocampal region100
100
Epb4.1l1HPFHippocampal formation100
100
Epb4.1l1HYHypothalamus100
100
Epb4.1l1LSXLateral septal complex100
100
Epb4.1l1MBMidbrain100
100
Epb4.1l1MYMedulla100
100
Epb4.1l1OLFOlfactory bulb100
100
Epb4.1l1PPons100
100
Epb4.1l1PALPallidum100
100
Epb4.1l1RHPRetrohippocampal region100
100
Epb4.1l1sAMYStriatum-like amygdalar nuclei100
100
Epb4.1l1STRStriatum100
100
Epb4.1l1STRdStriatum dorsal region100
100
Epb4.1l1STRvStriatum ventral region100
100
Epb4.1l1THThalamus69.51
82.49
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
E41L1_HUMAN_413 7 413 419 PAPFFER PRIDE
E41L1_HUMAN_720 18 720 737 VSAMDNTQQVDGSASVGR PRIDE
PAp00043009 10 304 313 VCIEHHTFFR 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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