AutismKB 2.0

Annotation Detail for EPB41L2


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Basic Information Top
Gene Symbol:EPB41L2 ( 4.1-G,DKFZp781D1972,DKFZp781H1755 )
Gene Full Name: erythrocyte membrane protein band 4.1-like 2
Band: 6q23.1-q23.2
Quick LinksEntrez ID:2037; OMIM: 603237; Uniprot ID:E41L2_HUMAN; ENSEMBL ID: ENSG00000079819; HGNC ID: 3379
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 body11 / 70761155
blastocyst12 / 62319192
fetus91 / 564012161
neonate3 / 3109796
infant0 / 236200 
juvenile4 / 5555671
adult196 / 1939121101
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) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma17 / 82823205
colorectal tumor16 / 114246140
esophageal tumor0 / 172900 
gastrointestinal tumor10 / 11936983
germ cell tumor32 / 263845121
glioma7 / 10688365
head and neck tumor12 / 13630288
kidney tumor4 / 6895958
leukemia5 / 9584252
liver tumor5 / 9635951
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia15 / 97250154
normal450 / 3360307133
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer4 / 10268038
retinoblastoma5 / 46356107
skin tumor10 / 12494980
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland2 / 3319760
ascites3 / 4001574
bladder1 / 2975733
blood5 / 12347840
bone16 / 71655223
bone marrow1 / 4880120
brain201 / 1100989182
cervix0 / 481710 
connective tissue25 / 149255167
ear1 / 1621261
embryonic tissue30 / 215722139
esophagus0 / 202090 
eye42 / 211054199
heart22 / 89626245
intestine32 / 234472136
kidney15 / 21177770
larynx2 / 2414582
liver14 / 20774367
lung13 / 33697438
lymph0 / 442700 
lymph node5 / 9161054
mammary gland8 / 15327152
mouth8 / 67052119
muscle25 / 107715232
nerve3 / 15768190
ovary4 / 10205139
pancreas10 / 21481246
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta24 / 28082585
prostate10 / 18934552
salivary gland0 / 201550 
skin14 / 21057466
spleen5 / 5395292
stomach4 / 9661941
testis51 / 330442154
thymus13 / 81131160
thyroid3 / 4747363
tonsil0 / 169990 
trachea13 / 52413248
umbilical cord0 / 136800 
uterus36 / 232878154
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201719_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts25.75
Adipocyte34.5
AdrenalCortex39.85
Adrenalgland20.7
Amygdala114.9
Appendix100.6
AtrioventricularNode66.05
BDCA4+_DentriticCells25.95
Bonemarrow13.15
BronchialEpithelialCells15.15
CD105+_Endothelial43.35
CD14+_Monocytes28.4
CD19+_BCells(neg._sel.)79.85
CD33+_Myeloid33.45
CD34+74.95
CD4+_Tcells19.65
CD56+_NKCells16.65
CD71+_EarlyErythroid13.2
CD8+_Tcells9.6
CardiacMyocytes60
Caudatenucleus77.75
Cerebellum23
CerebellumPeduncles26
CiliaryGanglion64.65
CingulateCortex71.85
Colorectaladenocarcinoma34.65
DorsalRootGanglion112.15
FetalThyroid75.85
Fetalbrain41.05
Fetalliver14.9
Fetallung90.95
GlobusPallidus33.35
Heart29.6
Hypothalamus154.4
Kidney9.85
Leukemia_chronicMyelogenousK-562101.85
Leukemia_promyelocytic-HL-606.5
Leukemialymphoblastic(MOLT-4)35.85
Liver12.4
Lung42.7
Lymphnode59.95
Lymphoma_burkitts(Daudi)42.1
Lymphoma_burkitts(Raji)20.5
MedullaOblongata69.7
OccipitalLobe65.9
OlfactoryBulb474.6
Ovary43.45
Pancreas26.75
PancreaticIslet29.45
ParietalLobe52.9
Pituitary53.9
Placenta27.1
Pons39.9
PrefrontalCortex153.6
Prostate33
Salivarygland33.1
SkeletalMuscle31.15
Skin33.75
SmoothMuscle113.5
Spinalcord282.25
SubthalamicNucleus44.4
SuperiorCervicalGanglion87.55
TemporalLobe40.9
Testis43.05
TestisGermCell91.6
TestisIntersitial38.95
TestisLeydigCell45
TestisSeminiferousTubule38.5
Thalamus50.75
Thymus50.1
Thyroid54.85
Tongue44.9
Tonsil25.25
Trachea33.15
TrigeminalGanglion61.1
Uterus94.75
UterusCorpus34.3
WholeBlood14.55
Wholebrain94.7
colon114.75
pineal_day89.98
pineal_night80.92
retina363.475
small_intestine111.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10587_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
Amygdala7.43 ± 0.47
Basal Forebrain7.64 ± 0.15
Basal Part of Pons7.37 ± 0.49
Cerebellar Cortex6.68 ± 0.42
Cerebellar Nuclei7.7 ± 0.38
Claustrum7.95 ± 0.44
Epithalamus7.86 ± 0.31
Frontal Lobe7.17 ± 0.49
Globus Pallidus7.99 ± 0.17
Hypothalamus6.92 ± 0.52
Insula7.27 ± 0.57
Limbic Lobe7.46 ± 0.67
Mesencephalon7.38 ± 0.52
Myelencephalon7.38 ± 0.57
Occipital Lobe7.86 ± 0.57
Parietal Lobe7.51 ± 0.61
Pontine Tegmentum7.37 ± 0.65
Striatum8.54 ± 0.66
Subthalamus7.24 ± 0.27
Temporal Lobe7.32 ± 0.44
Thalamus7.15 ± 0.37
White Matter8.33 ± 0.5
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Epb4.1l2CBCerebellum6.82
8.71
Epb4.1l2CTXCerebral cortex33.92
25.51
Epb4.1l2HIPHippocampal region12.8
13.07
Epb4.1l2HPFHippocampal formation13.93
12.64
Epb4.1l2HYHypothalamus7.83
7.45
Epb4.1l2LSXLateral septal complex7.44
6.45
Epb4.1l2MBMidbrain9.18
9.04
Epb4.1l2MYMedulla7.07
7.86
Epb4.1l2OLFOlfactory bulb32.56
27.63
Epb4.1l2PPons10.3
10.29
Epb4.1l2PALPallidum10.44
9.51
Epb4.1l2RHPRetrohippocampal region15.76
12.18
Epb4.1l2sAMYStriatum-like amygdalar nuclei13.08
9.61
Epb4.1l2STRStriatum11.29
8.54
Epb4.1l2STRdStriatum dorsal region11.74
9.14
Epb4.1l2STRvStriatum ventral region9.13
6.17
Epb4.1l2THThalamus12.32
10.61
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
E41L2_HUMAN_981 10 981 990 EQHPDMSVTR PRIDE
PAp00008629 25 762 786 VTEGTIREEQEYEEEVEEEPRPAAK 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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