AutismKB 2.0

Annotation Detail for EZR


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Basic Information Top
Gene Symbol:EZR ( CVIL,CVL,DKFZp762H157,FLJ26216,MGC1584,VIL2 )
Gene Full Name: ezrin
Band: 6q25.3
Quick LinksEntrez ID:7430; OMIM: 123900; Uniprot ID:EZRI_HUMAN; ENSEMBL ID: ENSG00000092820; HGNC ID: 12691
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 body32 / 70761452
blastocyst20 / 62319320
fetus115 / 564012203
neonate2 / 3109764
infant1 / 2362042
juvenile20 / 55556359
adult709 / 1939121365
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma4 / 17475228
breast (mammary gland) tumor24 / 94178254
cervical tumor4 / 34366116
chondrosarcoma11 / 82823132
colorectal tumor201 / 1142461759
esophageal tumor6 / 17290347
gastrointestinal tumor79 / 119369661
germ cell tumor43 / 263845162
glioma18 / 106883168
head and neck tumor55 / 136302403
kidney tumor15 / 68959217
leukemia18 / 95842187
liver tumor17 / 96359176
lung tumor20 / 103127193
lymphoma22 / 71755306
non-neoplasia12 / 97250123
normal789 / 3360307234
ovarian tumor24 / 76682312
pancreatic tumor23 / 104616219
primitive neuroectodermal tumor of the CNS13 / 125680103
prostate cancer9 / 10268087
retinoblastoma6 / 46356129
skin tumor10 / 12494980
soft tissue/muscle tissue tumor18 / 125191143
uterine tumor26 / 90257288
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue12 / 13106915
adrenal gland6 / 33197180
ascites39 / 40015974
bladder5 / 29757168
blood16 / 123478129
bone10 / 71655139
bone marrow9 / 48801184
brain172 / 1100989156
cervix4 / 4817183
connective tissue24 / 149255160
ear0 / 162120 
embryonic tissue66 / 215722305
esophagus6 / 20209296
eye42 / 211054199
heart15 / 89626167
intestine228 / 234472972
kidney54 / 211777254
larynx6 / 24145248
liver26 / 207743125
lung86 / 336974255
lymph12 / 44270271
lymph node28 / 91610305
mammary gland51 / 153271332
mouth38 / 67052566
muscle5 / 10771546
nerve3 / 15768190
ovary26 / 102051254
pancreas27 / 214812125
parathyroid8 / 20539389
pharynx6 / 41328145
pituitary gland0 / 165850 
placenta160 / 280825569
prostate19 / 189345100
salivary gland4 / 20155198
skin75 / 210574356
spleen16 / 53952296
stomach46 / 96619476
testis43 / 330442130
thymus30 / 81131369
thyroid16 / 47473337
tonsil4 / 16999235
trachea22 / 52413419
umbilical cord0 / 136800 
uterus44 / 232878188
vascular6 / 51780115
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208621_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts91.65
Adipocyte5.65
AdrenalCortex8
Adrenalgland21.05
Amygdala7.95
Appendix6
AtrioventricularNode4.75
BDCA4+_DentriticCells103.7
Bonemarrow6.15
BronchialEpithelialCells72.35
CD105+_Endothelial6.2
CD14+_Monocytes8.2
CD19+_BCells(neg._sel.)363.4
CD33+_Myeloid35.15
CD34+8.15
CD4+_Tcells85.1
CD56+_NKCells70.05
CD71+_EarlyErythroid5.75
CD8+_Tcells71.95
CardiacMyocytes13.35
Caudatenucleus5.55
Cerebellum5.4
CerebellumPeduncles6.9
CiliaryGanglion5
CingulateCortex5.9
Colorectaladenocarcinoma43.25
DorsalRootGanglion4.7
FetalThyroid5.9
Fetalbrain6
Fetalliver5.4
Fetallung6.3
GlobusPallidus4.55
Heart8.2
Hypothalamus6.05
Kidney19.7
Leukemia_chronicMyelogenousK-5624.7
Leukemia_promyelocytic-HL-607.1
Leukemialymphoblastic(MOLT-4)5.1
Liver8.15
Lung85.8
Lymphnode5.35
Lymphoma_burkitts(Daudi)8
Lymphoma_burkitts(Raji)8.85
MedullaOblongata5.4
OccipitalLobe5.65
OlfactoryBulb4.85
Ovary3.9
Pancreas4.95
PancreaticIslet12.1
ParietalLobe6.4
Pituitary7.6
Placenta477.7
Pons5.85
PrefrontalCortex6.4
Prostate9.2
Salivarygland4.6
SkeletalMuscle7
Skin3.9
SmoothMuscle6.4
Spinalcord6.4
SubthalamicNucleus5.55
SuperiorCervicalGanglion7.15
TemporalLobe5.7
Testis5.95
TestisGermCell5.7
TestisIntersitial5.15
TestisLeydigCell6.4
TestisSeminiferousTubule5.3
Thalamus5.6
Thymus25.75
Thyroid8.8
Tongue5.85
Tonsil77.2
Trachea37.2
TrigeminalGanglion6.1
Uterus4.65
UterusCorpus5.5
WholeBlood10
Wholebrain7.95
colon58.95
pineal_day6.7
pineal_night6.6
retina8.275
small_intestine48.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P19590
  • 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
Amygdala9.66 ± 0.36
Basal Forebrain9.68 ± 0.3
Basal Part of Pons8.23 ± 0.39
Cerebellar Cortex8.37 ± 0.43
Cerebellar Nuclei8.35 ± 0.46
Claustrum9.6 ± 0.47
Epithalamus10.7 ± 0.58
Frontal Lobe8.99 ± 0.55
Globus Pallidus10.21 ± 0.38
Hypothalamus9.27 ± 0.65
Insula9.12 ± 0.52
Limbic Lobe9.12 ± 0.73
Mesencephalon9.41 ± 0.63
Myelencephalon9.27 ± 0.69
Occipital Lobe9.24 ± 0.66
Parietal Lobe9.12 ± 0.6
Pontine Tegmentum9.22 ± 0.51
Striatum10 ± 0.5
Subthalamus8.54 ± 0.51
Temporal Lobe8.99 ± 0.47
Thalamus9.36 ± 0.42
White Matter9.29 ± 0.34
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Vil2CBCerebellum1.38
2.48
Vil2CTXCerebral cortex2.17
2.53
Vil2HIPHippocampal region0.85
1.25
Vil2HPFHippocampal formation0.99
1.14
Vil2HYHypothalamus0.95
0.72
Vil2LSXLateral septal complex1.08
0.7
Vil2MBMidbrain1.41
1.44
Vil2MYMedulla3.79
6.17
Vil2OLFOlfactory bulb1.36
1.5
Vil2PPons0.79
0.95
Vil2PALPallidum2.67
2.93
Vil2RHPRetrohippocampal region1.46
1.01
Vil2sAMYStriatum-like amygdalar nuclei1.82
2.14
Vil2STRStriatum5.05
4.43
Vil2STRdStriatum dorsal region6.15
5.44
Vil2STRvStriatum ventral region5.31
4.29
Vil2THThalamus1.65
2.26
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
EZRI_HUMAN_0 0 0 0 AKFYPEDVAEELIQDITQK PRIDE
EZRI_HUMAN_0 0 0 0 APDFVFYAPR PRIDE
EZRI_HUMAN_0 0 0 0 FYPEDVAEELIQDITQK PRIDE
EZRI_HUMAN_0 0 0 0 IGFPWSEIR PRIDE
EZRI_HUMAN_0 0 0 0 SQEQLAAELAEYTAK PRIDE
EZRI_HUMAN_1 7 1 7 PKPINVR PRIDE
EZRI_HUMAN_101 7 101 107 LFFLQVK PRIDE
EZRI_HUMAN_107 26 107 132 EGILSDEIYCPPETAVLLGSYAVQAK PRIDE
EZRI_HUMAN_180 13 180 192 GMLKDNAMLEYLK PRIDE
EZRI_HUMAN_193 16 193 208 IAQDLEMYGINYFEIK PRIDE
EZRI_HUMAN_2 7 2 8 PKPINVR PRIDE
EZRI_HUMAN_212 25 212 236 GTDLWLGVDALGLNIYEKDDKLTPK PRIDE
EZRI_HUMAN_237 9 237 245 IGFPWSEIR PRIDE
EZRI_HUMAN_254 8 254 261 FVIKPIDK PRIDE
EZRI_HUMAN_262 11 262 272 KAPDFVFYAPR PRIDE
EZRI_HUMAN_263 10 263 272 APDFVFYAPR PRIDE
EZRI_HUMAN_27 13 27 39 QLFDQVVKTIGLR PRIDE
EZRI_HUMAN_27 8 27 34 QLFDQVVK PRIDE
EZRI_HUMAN_279 14 279 292 ILQLCMGNHELYMR PRIDE
EZRI_HUMAN_293 13 293 305 RRKPDTIEVQQMK PRIDE
EZRI_HUMAN_294 12 294 305 RKPDTIEVQQMK PRIDE
EZRI_HUMAN_295 11 295 305 KPDTIEVQQMK PRIDE
EZRI_HUMAN_320 9 320 328 QQLETEKKR PRIDE
EZRI_HUMAN_330 13 330 342 RETVEREKEQMMR PRIDE
EZRI_HUMAN_359 12 359 370 KAERELSEQIQR PRIDE
EZRI_HUMAN_381 17 381 397 AQEEAERLEADRMAALR PRIDE
EZRI_HUMAN_40 13 40 52 EVWYFGLHYVDNK PRIDE
EZRI_HUMAN_405 22 405 426 QAVDQIKSQEQLAAELAEYTAK PRIDE
EZRI_HUMAN_405 30 405 434 QAVDQIKSQEQLAAELAEYTAKIALLEEAR PRIDE
EZRI_HUMAN_412 15 412 426 SQEQLAAELAEYTAK PRIDE
EZRI_HUMAN_413 15 413 427 SQEQLAAELAEYTAK PRIDE
EZRI_HUMAN_517 9 517 525 ITEAEKNER PRIDE
EZRI_HUMAN_547 12 547 558 THNDIIHNENMR PRIDE
EZRI_HUMAN_572 7 572 578 QGNTKQR PRIDE
EZRI_HUMAN_577 9 577 585 QRIDEFEAL PRIDE
EZRI_HUMAN_8 19 8 26 VTTMDAELEFAIQPNTTGK PRIDE
EZRI_HUMAN_81 19 81 99 AKFYPEDVAEELIQDITQK PRIDE
EZRI_HUMAN_83 17 83 99 FYPEDVAEELIQDITQK PRIDE
PAp00002023 26 108 133 EGILSDEIYCPPETAVLLGSYAVQAK 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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