AutismKB 2.0

Annotation Detail for EGFR


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Basic Information Top
Gene Symbol:EGFR ( ERBB,ERBB1,HER1,PIG61,mENA )
Gene Full Name: epidermal growth factor receptor
Band: 7p11.2
Quick LinksEntrez ID:1956; OMIM: 131550; Uniprot ID:EGFR_HUMAN; ENSEMBL ID: ENSG00000146648; HGNC ID: 3236
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
fetus35 / 56401262
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult168 / 193912186
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor5 / 9417853
cervical tumor2 / 3436658
chondrosarcoma6 / 8282372
colorectal tumor4 / 11424635
esophageal tumor1 / 1729057
gastrointestinal tumor5 / 11936941
germ cell tumor2 / 2638457
glioma11 / 106883102
head and neck tumor30 / 136302220
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor5 / 10312748
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal188 / 336030755
ovarian tumor11 / 76682143
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites2 / 4001549
bladder4 / 29757134
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain32 / 110098929
cervix3 / 4817162
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus1 / 2020949
eye16 / 21105475
heart3 / 8962633
intestine7 / 23447229
kidney9 / 21177742
larynx2 / 2414582
liver2 / 2077439
lung17 / 33697450
lymph0 / 442700 
lymph node0 / 916100 
mammary gland10 / 15327165
mouth23 / 67052343
muscle6 / 10771555
nerve1 / 1576863
ovary10 / 10205197
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta91 / 280825324
prostate9 / 18934547
salivary gland0 / 201550 
skin7 / 21057433
spleen0 / 539520 
stomach5 / 9661951
testis5 / 33044215
thymus2 / 8113124
thyroid4 / 4747384
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular2 / 5178038
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210984_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.2
Adipocyte4.6
AdrenalCortex4.3
Adrenalgland3.6
Amygdala4.6
Appendix4.4
AtrioventricularNode3.15
BDCA4+_DentriticCells4.7
Bonemarrow4.3
BronchialEpithelialCells4.5
CD105+_Endothelial4.35
CD14+_Monocytes4.6
CD19+_BCells(neg._sel.)4.65
CD33+_Myeloid5.6
CD34+5.5
CD4+_Tcells4.7
CD56+_NKCells5.25
CD71+_EarlyErythroid4
CD8+_Tcells4.3
CardiacMyocytes5.25
Caudatenucleus3.85
Cerebellum3.7
CerebellumPeduncles4.85
CiliaryGanglion2.9
CingulateCortex4.4
Colorectaladenocarcinoma4.35
DorsalRootGanglion3.2
FetalThyroid4.2
Fetalbrain4.35
Fetalliver4.7
Fetallung3.65
GlobusPallidus3.05
Heart5.35
Hypothalamus4.8
Kidney3.6
Leukemia_chronicMyelogenousK-5623.9
Leukemia_promyelocytic-HL-603.8
Leukemialymphoblastic(MOLT-4)3.5
Liver5.55
Lung4.85
Lymphnode3.75
Lymphoma_burkitts(Daudi)5.45
Lymphoma_burkitts(Raji)5.9
MedullaOblongata4.05
OccipitalLobe3.9
OlfactoryBulb3.4
Ovary2.8
Pancreas3.4
PancreaticIslet5.1
ParietalLobe4.45
Pituitary5.05
Placenta22.2
Pons4.65
PrefrontalCortex5.35
Prostate5.1
Salivarygland3.4
SkeletalMuscle5.15
Skin3.2
SmoothMuscle4.9
Spinalcord4.6
SubthalamicNucleus3.85
SuperiorCervicalGanglion4.95
TemporalLobe3.9
Testis3.75
TestisGermCell3.65
TestisIntersitial3.65
TestisLeydigCell4.25
TestisSeminiferousTubule3.7
Thalamus4.35
Thymus3.5
Thyroid5.5
Tongue4.15
Tonsil4.15
Trachea3.65
TrigeminalGanglion4.15
Uterus3.55
UterusCorpus3.75
WholeBlood4.8
Wholebrain3.75
colon4.35
pineal_day5.28
pineal_night5.16
retina5.275
small_intestine4.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1352_PI416573500
  • 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
Amygdala5.51 ± 0.3
Basal Forebrain5.78 ± 0.31
Basal Part of Pons4.95 ± 0.58
Cerebellar Cortex4.83 ± 0.42
Cerebellar Nuclei5.41 ± 0.57
Claustrum5.11 ± 0.73
Epithalamus5.3 ± 0.71
Frontal Lobe5.26 ± 0.64
Globus Pallidus7.01 ± 0.45
Hypothalamus5.47 ± 0.42
Insula4.8 ± 0.62
Limbic Lobe5.05 ± 0.73
Mesencephalon5.71 ± 0.73
Myelencephalon5.43 ± 0.74
Occipital Lobe6.09 ± 0.59
Parietal Lobe5.72 ± 0.53
Pontine Tegmentum5.67 ± 0.59
Striatum6.14 ± 0.36
Subthalamus5.16 ± 0.35
Temporal Lobe5.15 ± 0.56
Thalamus6.05 ± 0.53
White Matter4.37 ± 0.54
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
EGFR_HUMAN_1099 22 1099 1120 RPAGSVQNPVYHNQPLNPAPSR PRIDE
EGFR_HUMAN_1160 19 1160 1178 GSHQISLDNPDYQQDFFPK PRIDE
EGFR_HUMAN_138 11 138 148 NLQEILHGAVR PRIDE
EGFR_HUMAN_149 16 149 164 FSNNPALCNVESIQWR PRIDE
EGFR_HUMAN_37 16 37 52 LTQLGTFEDHFLSLQR PRIDE
EGFR_HUMAN_377 19 377 395 GDSFTHTPPLDPQELDILK PRIDE
EGFR_HUMAN_686 19 686 704 ELVEPLTPSGEAPNQALLR PRIDE
EGFR_HUMAN_716 12 716 727 VLGSGAFGTVYK PRIDE
EGFR_HUMAN_757 19 757 775 EILDEAYVMASVDNPHVCR PRIDE
EGFR_HUMAN_80 18 80 97 TIQEVAGYVLIALNTVER PRIDE
EGFR_HUMAN_932 17 932 948 LPQPPICTIDVYMIMVK PRIDE
PAp00000209 16 310 325 ACGADSYEMEEDGVRK 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