AutismKB 2.0

Annotation Detail for ENOPH1


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Basic Information Top
Gene Symbol:ENOPH1 ( DKFZp586M0524,E1,FLJ12594,MASA,MST145 )
Gene Full Name: enolase-phosphatase 1
Band: 4q21.22
Quick LinksEntrez ID:58478; OMIM: NA; Uniprot ID:ENOPH_HUMAN; ENSEMBL ID: ENSG00000145293; HGNC ID: 24599
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
blastocyst6 / 6231996
fetus51 / 56401290
neonate2 / 3109764
infant8 / 23620338
juvenile15 / 55556269
adult144 / 193912174
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor2 / 11424617
esophageal tumor3 / 17290173
gastrointestinal tumor8 / 11936967
germ cell tumor31 / 263845117
glioma14 / 106883130
head and neck tumor5 / 13630236
kidney tumor9 / 68959130
leukemia8 / 9584283
liver tumor5 / 9635951
lung tumor4 / 10312738
lymphoma5 / 7175569
non-neoplasia13 / 97250133
normal327 / 336030797
ovarian tumor5 / 7668265
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS23 / 125680183
prostate cancer15 / 102680146
retinoblastoma5 / 46356107
skin tumor4 / 12494932
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites0 / 400150 
bladder2 / 2975767
blood9 / 12347872
bone6 / 7165583
bone marrow3 / 4880161
brain211 / 1100989191
cervix1 / 4817120
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue18 / 21572283
esophagus4 / 20209197
eye19 / 21105490
heart5 / 8962655
intestine16 / 23447268
kidney21 / 21177799
larynx1 / 2414541
liver6 / 20774328
lung19 / 33697456
lymph2 / 4427045
lymph node12 / 91610130
mammary gland9 / 15327158
mouth4 / 6705259
muscle2 / 10771518
nerve0 / 157680 
ovary5 / 10205148
pancreas10 / 21481246
parathyroid4 / 20539194
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta18 / 28082564
prostate16 / 18934584
salivary gland2 / 2015599
skin8 / 21057437
spleen4 / 5395274
stomach8 / 9661982
testis26 / 33044278
thymus7 / 8113186
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus15 / 23287864
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217956_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts320.6
Adipocyte25.25
AdrenalCortex27.25
Adrenalgland37
Amygdala417.35
Appendix55.35
AtrioventricularNode42.75
BDCA4+_DentriticCells91.55
Bonemarrow23.2
BronchialEpithelialCells157.7
CD105+_Endothelial120.4
CD14+_Monocytes59.9
CD19+_BCells(neg._sel.)61.55
CD33+_Myeloid54.05
CD34+170.35
CD4+_Tcells88.45
CD56+_NKCells138
CD71+_EarlyErythroid18.35
CD8+_Tcells102.75
CardiacMyocytes26.75
Caudatenucleus140.25
Cerebellum51.85
CerebellumPeduncles88.9
CiliaryGanglion27.9
CingulateCortex148.05
Colorectaladenocarcinoma56.45
DorsalRootGanglion35.85
FetalThyroid38.95
Fetalbrain273.5
Fetalliver47.25
Fetallung58.4
GlobusPallidus100.75
Heart18.85
Hypothalamus372.25
Kidney29.05
Leukemia_chronicMyelogenousK-56252.6
Leukemia_promyelocytic-HL-60124.95
Leukemialymphoblastic(MOLT-4)187.75
Liver22.65
Lung20
Lymphnode40.6
Lymphoma_burkitts(Daudi)196.9
Lymphoma_burkitts(Raji)116.3
MedullaOblongata191.95
OccipitalLobe197.3
OlfactoryBulb73.5
Ovary11.05
Pancreas24.75
PancreaticIslet86.95
ParietalLobe200.9
Pituitary84.1
Placenta56.85
Pons100.1
PrefrontalCortex201.75
Prostate68.4
Salivarygland26.9
SkeletalMuscle38.1
Skin35.5
SmoothMuscle27.6
Spinalcord210.8
SubthalamicNucleus128.05
SuperiorCervicalGanglion62.25
TemporalLobe136.65
Testis17.9
TestisGermCell17.25
TestisIntersitial36.1
TestisLeydigCell20.95
TestisSeminiferousTubule11.95
Thalamus147.25
Thymus40
Thyroid84.15
Tongue60.95
Tonsil58.05
Trachea33.15
TrigeminalGanglion25.95
Uterus41.5
UterusCorpus49
WholeBlood62.45
Wholebrain283.55
colon62.5
pineal_day152.74
pineal_night129.82
retina87.225
small_intestine82.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16537_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
Amygdala7.28 ± 0.46
Basal Forebrain7.58 ± 0.19
Basal Part of Pons7.6 ± 0.38
Cerebellar Cortex7.48 ± 0.23
Cerebellar Nuclei7.63 ± 0.49
Claustrum7.3 ± 0.37
Epithalamus7.32 ± 0.34
Frontal Lobe7.63 ± 0.3
Globus Pallidus8 ± 0.27
Hypothalamus7.59 ± 0.26
Insula7.47 ± 0.25
Limbic Lobe7.52 ± 0.39
Mesencephalon7.53 ± 0.38
Myelencephalon7.54 ± 0.37
Occipital Lobe7.46 ± 0.4
Parietal Lobe7.55 ± 0.31
Pontine Tegmentum7.55 ± 0.28
Striatum7.31 ± 0.27
Subthalamus7.74 ± 0.35
Temporal Lobe7.63 ± 0.29
Thalamus7.66 ± 0.26
White Matter8.75 ± 0.17
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2310057D15RikCBCerebellum4.89
6.05
2310057D15RikCTXCerebral cortex46.18
37.13
2310057D15RikHIPHippocampal region35.2
62.27
2310057D15RikHPFHippocampal formation42.45
56.82
2310057D15RikHYHypothalamus4.04
3.18
2310057D15RikLSXLateral septal complex5.02
3.58
2310057D15RikMBMidbrain3.96
3.62
2310057D15RikMYMedulla1.44
1.76
2310057D15RikOLFOlfactory bulb34.69
30.54
2310057D15RikPPons2.51
3.16
2310057D15RikPALPallidum6.47
5.75
2310057D15RikRHPRetrohippocampal region54.7
52.05
2310057D15RiksAMYStriatum-like amygdalar nuclei7.57
5.28
2310057D15RikSTRStriatum9.38
7
2310057D15RikSTRdStriatum dorsal region8.61
6.64
2310057D15RikSTRvStriatum ventral region15.01
10.17
2310057D15RikTHThalamus7.09
6.31
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ENOPH_HUMAN_0 0 0 0 LLFGHSTEGDILELVDGHFDTK PRIDE
ENOPH_HUMAN_0 0 0 0 VYIYSSGSVEAQK PRIDE
ENOPH_HUMAN_148 13 148 160 VYIYSSGSVEAQK PRIDE
ENOPH_HUMAN_161 22 161 182 LLFGHSTEGDILELVDGHFDTK PRIDE
PAp00003665 20 196 215 IADSIGCSTNNILFLTDVTR 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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