AutismKB 2.0

Annotation Detail for EVL


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Basic Information Top
Gene Symbol:EVL ( RNB6 )
Gene Full Name: Enah/Vasp-like
Band: 14q32.2
Quick LinksEntrez ID:51466; OMIM: NA; Uniprot ID:EVL_HUMAN; ENSEMBL ID: ENSG00000196405; HGNC ID: 20234
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 body4 / 7076156
blastocyst4 / 6231964
fetus98 / 564012173
neonate1 / 3109732
infant1 / 2362042
juvenile17 / 55556305
adult252 / 1939121129
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor19 / 94178201
cervical tumor2 / 3436658
chondrosarcoma6 / 8282372
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor12 / 26384545
glioma18 / 106883168
head and neck tumor5 / 13630236
kidney tumor9 / 68959130
leukemia14 / 95842146
liver tumor3 / 9635931
lung tumor22 / 103127213
lymphoma23 / 71755320
non-neoplasia10 / 97250102
normal453 / 3360307134
ovarian tumor0 / 766820 
pancreatic tumor13 / 104616124
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer7 / 10268068
retinoblastoma11 / 46356237
skin tumor1 / 1249498
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor14 / 90257155
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder1 / 2975733
blood17 / 123478137
bone4 / 7165555
bone marrow1 / 4880120
brain175 / 1100989158
cervix3 / 4817162
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus0 / 202090 
eye52 / 211054246
heart16 / 89626178
intestine9 / 23447238
kidney14 / 21177766
larynx3 / 24145124
liver7 / 20774333
lung43 / 336974127
lymph6 / 44270135
lymph node19 / 91610207
mammary gland25 / 153271163
mouth0 / 670520 
muscle4 / 10771537
nerve1 / 1576863
ovary0 / 1020510 
pancreas32 / 214812148
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta21 / 28082574
prostate14 / 18934573
salivary gland2 / 2015599
skin6 / 21057428
spleen17 / 53952315
stomach3 / 9661931
testis15 / 33044245
thymus61 / 81131751
thyroid2 / 4747342
tonsil12 / 16999705
trachea1 / 5241319
umbilical cord0 / 136800 
uterus24 / 232878103
vascular6 / 51780115
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217838_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts119.55
Adipocyte19.9
AdrenalCortex8.15
Adrenalgland6.2
Amygdala344.55
Appendix5.25
AtrioventricularNode3.55
BDCA4+_DentriticCells63.35
Bonemarrow21
BronchialEpithelialCells5.3
CD105+_Endothelial5.4
CD14+_Monocytes56.55
CD19+_BCells(neg._sel.)486.35
CD33+_Myeloid28.85
CD34+51.65
CD4+_Tcells1423
CD56+_NKCells677.3
CD71+_EarlyErythroid3.85
CD8+_Tcells1410.15
CardiacMyocytes27.45
Caudatenucleus154.55
Cerebellum88.35
CerebellumPeduncles126.55
CiliaryGanglion4.6
CingulateCortex304.25
Colorectaladenocarcinoma5.3
DorsalRootGanglion3.9
FetalThyroid46.75
Fetalbrain592.7
Fetalliver4.95
Fetallung85.9
GlobusPallidus132.15
Heart56.25
Hypothalamus236.45
Kidney4
Leukemia_chronicMyelogenousK-56234.3
Leukemia_promyelocytic-HL-609.95
Leukemialymphoblastic(MOLT-4)439.4
Liver42.6
Lung346.75
Lymphnode525.85
Lymphoma_burkitts(Daudi)64.25
Lymphoma_burkitts(Raji)192.35
MedullaOblongata169.5
OccipitalLobe199.4
OlfactoryBulb25.35
Ovary12.75
Pancreas7.65
PancreaticIslet51.35
ParietalLobe133.45
Pituitary50.1
Placenta19.95
Pons145.25
PrefrontalCortex494.3
Prostate145.2
Salivarygland28.3
SkeletalMuscle5.7
Skin3.3
SmoothMuscle51.1
Spinalcord104.2
SubthalamicNucleus193.4
SuperiorCervicalGanglion4.5
TemporalLobe151.1
Testis25.95
TestisGermCell28.9
TestisIntersitial10.05
TestisLeydigCell15.3
TestisSeminiferousTubule22.85
Thalamus246.65
Thymus400
Thyroid106.7
Tongue6.3
Tonsil222.6
Trachea25.55
TrigeminalGanglion3.95
Uterus113.8
UterusCorpus5.5
WholeBlood222.65
Wholebrain209.5
colon13.4
pineal_day351.94
pineal_night291.08
retina187.625
small_intestine33.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P129038
  • 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
Amygdala8.07 ± 0.49
Basal Forebrain7.98 ± 0.09
Basal Part of Pons7.74 ± 0.29
Cerebellar Cortex7.51 ± 0.23
Cerebellar Nuclei7.75 ± 0.21
Claustrum8.36 ± 0.47
Epithalamus6.92 ± 0.67
Frontal Lobe7.66 ± 0.39
Globus Pallidus7.46 ± 0.39
Hypothalamus7.65 ± 0.34
Insula7.78 ± 0.29
Limbic Lobe7.79 ± 0.39
Mesencephalon7.91 ± 0.35
Myelencephalon7.77 ± 0.37
Occipital Lobe7.97 ± 0.35
Parietal Lobe7.81 ± 0.41
Pontine Tegmentum7.59 ± 0.43
Striatum7.84 ± 0.45
Subthalamus7.56 ± 0.43
Temporal Lobe7.81 ± 0.32
Thalamus7.78 ± 0.27
White Matter7.22 ± 0.39
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
EvlCBCerebellum29.88
49.96
EvlCTXCerebral cortex100
100
EvlHIPHippocampal region50.38
80.46
EvlHPFHippocampal formation71.56
93.54
EvlHYHypothalamus100
100
EvlLSXLateral septal complex100
100
EvlMBMidbrain99.11
100
EvlMYMedulla74.99
100
EvlOLFOlfactory bulb100
100
EvlPPons81.88
100
EvlPALPallidum100
100
EvlRHPRetrohippocampal region100
100
EvlsAMYStriatum-like amygdalar nuclei100
100
EvlSTRStriatum99.89
89.49
EvlSTRdStriatum dorsal region91.96
81.53
EvlSTRvStriatum ventral region100
95.24
EvlTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
EVL_HUMAN_280 30 280 309 AASQSDKPAEKKEDESQMEDPSTSPSPGTR PRIDE
EVL_HUMAN_35 13 35 47 INIYHNTASNTFR PRIDE
EVL_HUMAN_397 19 397 415 VKEEIIDAIRQELSGISTT PRIDE
PAp00035198 32 294 325 KEDESQMEDPSTSPSPGTRAASQPPNSSEAGR 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