AutismKB 2.0

Annotation Detail for ENAH


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Basic Information Top
Gene Symbol:ENAH ( ENA,MENA,NDPP1 )
Gene Full Name: enabled homolog (Drosophila)
Band: 1q42.12
Quick LinksEntrez ID:55740; OMIM: 609061; Uniprot ID:ENAH_HUMAN; ENSEMBL ID: ENSG00000154380; HGNC ID: 18271
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 body16 / 70761226
blastocyst7 / 62319112
fetus48 / 56401285
neonate0 / 310970 
infant2 / 2362084
juvenile5 / 5555689
adult157 / 193912180
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma2 / 17475114
breast (mammary gland) tumor6 / 9417863
cervical tumor1 / 3436629
chondrosarcoma19 / 82823229
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor24 / 26384590
glioma8 / 10688374
head and neck tumor23 / 136302168
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor7 / 9635972
lung tumor9 / 10312787
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal250 / 336030774
ovarian tumor6 / 7668278
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer4 / 10268038
retinoblastoma17 / 46356366
skin tumor14 / 124949112
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland4 / 33197120
ascites3 / 4001574
bladder7 / 29757235
blood0 / 1234780 
bone17 / 71655237
bone marrow11 / 48801225
brain52 / 110098947
cervix2 / 4817141
connective tissue15 / 149255100
ear1 / 1621261
embryonic tissue31 / 215722143
esophagus0 / 202090 
eye29 / 211054137
heart13 / 89626145
intestine11 / 23447246
kidney6 / 21177728
larynx12 / 24145496
liver8 / 20774338
lung42 / 336974124
lymph0 / 442700 
lymph node0 / 916100 
mammary gland17 / 153271110
mouth6 / 6705289
muscle4 / 10771537
nerve2 / 15768126
ovary6 / 10205158
pancreas3 / 21481213
parathyroid3 / 20539146
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta9 / 28082532
prostate11 / 18934558
salivary gland5 / 20155248
skin21 / 21057499
spleen0 / 539520 
stomach2 / 9661920
testis25 / 33044275
thymus3 / 8113136
thyroid1 / 4747321
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus17 / 23287872
vascular14 / 51780270
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217820_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts9
Adipocyte55.7
AdrenalCortex25.35
Adrenalgland11.8
Amygdala39.4
Appendix39.2
AtrioventricularNode16.25
BDCA4+_DentriticCells8.75
Bonemarrow13.1
BronchialEpithelialCells97.55
CD105+_Endothelial10.7
CD14+_Monocytes9.2
CD19+_BCells(neg._sel.)12.55
CD33+_Myeloid10.75
CD34+10
CD4+_Tcells9.45
CD56+_NKCells9.75
CD71+_EarlyErythroid9.45
CD8+_Tcells7
CardiacMyocytes94.25
Caudatenucleus10.45
Cerebellum8.6
CerebellumPeduncles17.25
CiliaryGanglion16.45
CingulateCortex42.8
Colorectaladenocarcinoma8.95
DorsalRootGanglion13.75
FetalThyroid14.05
Fetalbrain33.2
Fetalliver10.15
Fetallung15.65
GlobusPallidus12.35
Heart23.6
Hypothalamus48.45
Kidney10.85
Leukemia_chronicMyelogenousK-5628.05
Leukemia_promyelocytic-HL-6010.15
Leukemialymphoblastic(MOLT-4)6.75
Liver14.75
Lung10.8
Lymphnode7.95
Lymphoma_burkitts(Daudi)17.6
Lymphoma_burkitts(Raji)17.8
MedullaOblongata37.5
OccipitalLobe40.65
OlfactoryBulb59.25
Ovary11.4
Pancreas12.45
PancreaticIslet33.4
ParietalLobe22.65
Pituitary16.55
Placenta10.7
Pons17.5
PrefrontalCortex24.4
Prostate39.25
Salivarygland11.35
SkeletalMuscle23.2
Skin14.3
SmoothMuscle277.95
Spinalcord14.8
SubthalamicNucleus28.25
SuperiorCervicalGanglion42.75
TemporalLobe18.9
Testis12.4
TestisGermCell133.75
TestisIntersitial23.4
TestisLeydigCell30.8
TestisSeminiferousTubule24.8
Thalamus15.25
Thymus7.7
Thyroid17.35
Tongue17.5
Tonsil11.3
Trachea26.7
TrigeminalGanglion26.1
Uterus31.6
UterusCorpus19.2
WholeBlood9.9
Wholebrain11.05
colon112.2
pineal_day25.68
pineal_night27.52
retina84.475
small_intestine114.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P337767
  • 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
Amygdala8.86 ± 0.28
Basal Forebrain8.91 ± 0.33
Basal Part of Pons8.34 ± 0.24
Cerebellar Cortex8.45 ± 0.17
Cerebellar Nuclei8.69 ± 0.21
Claustrum8.35 ± 0.3
Epithalamus9.43 ± 0.31
Frontal Lobe8.67 ± 0.35
Globus Pallidus9.7 ± 0.25
Hypothalamus8.78 ± 0.27
Insula8.72 ± 0.26
Limbic Lobe8.91 ± 0.35
Mesencephalon8.8 ± 0.34
Myelencephalon8.83 ± 0.34
Occipital Lobe8.92 ± 0.31
Parietal Lobe8.81 ± 0.34
Pontine Tegmentum8.8 ± 0.28
Striatum8.75 ± 0.45
Subthalamus8.5 ± 0.17
Temporal Lobe8.72 ± 0.28
Thalamus8.95 ± 0.23
White Matter9.45 ± 0.32
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ENAH_HUMAN_433 22 433 454 GNGPLPLGGSGLMEEMSALLAR PRIDE
ENAH_HUMAN_535 23 535 557 PKSTPLSQPSANGVQTEGLDYDR PRIDE
ENAH_HUMAN_558 10 558 567 LKQDILDEMR PRIDE
ENAH_HUMAN_560 8 560 567 QDILDEMR PRIDE
PAp00004364 15 52 66 KIQDHQVVINCAIPK 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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