AutismKB 2.0

Annotation Detail for ESPL1


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Basic Information Top
Gene Symbol:ESPL1 ( ESP1,FLJ46492,KIAA0165 )
Gene Full Name: extra spindle pole bodies homolog 1 (S. cerevisiae)
Band: 12q13.13
Quick LinksEntrez ID:9700; OMIM: 604143; Uniprot ID:ESPL1_HUMAN; ENSEMBL ID: ENSG00000135476; HGNC ID: 16856
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 body5 / 7076170
blastocyst7 / 62319112
fetus14 / 56401224
neonate1 / 3109732
infant0 / 236200 
juvenile1 / 5555617
adult23 / 193912111
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor4 / 9417842
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor10 / 26384537
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor3 / 10312729
lymphoma4 / 7175555
non-neoplasia0 / 972500 
normal52 / 336030715
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor5 / 12494940
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites2 / 4001549
bladder0 / 297570 
blood4 / 12347832
bone0 / 716550 
bone marrow1 / 4880120
brain13 / 110098911
cervix1 / 4817120
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue17 / 21572278
esophagus0 / 202090 
eye1 / 2110544
heart2 / 8962622
intestine7 / 23447229
kidney1 / 2117774
larynx0 / 241450 
liver1 / 2077434
lung9 / 33697426
lymph2 / 4427045
lymph node5 / 9161054
mammary gland4 / 15327126
mouth3 / 6705244
muscle1 / 1077159
nerve0 / 157680 
ovary4 / 10205139
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate3 / 18934515
salivary gland1 / 2015549
skin7 / 21057433
spleen0 / 539520 
stomach2 / 9661920
testis5 / 33044215
thymus3 / 8113136
thyroid0 / 474730 
tonsil2 / 16999117
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204817_at
Cell line Expression level Expression bar
721_B_lymphoblasts302.3
Adipocyte3.9
AdrenalCortex4.2
Adrenalgland3.3
Amygdala4.15
Appendix4
AtrioventricularNode3
BDCA4+_DentriticCells4.3
Bonemarrow4
BronchialEpithelialCells3.9
CD105+_Endothelial23
CD14+_Monocytes4.2
CD19+_BCells(neg._sel.)4.25
CD33+_Myeloid5.15
CD34+14.45
CD4+_Tcells4.25
CD56+_NKCells4.65
CD71+_EarlyErythroid82.2
CD8+_Tcells3.8
CardiacMyocytes5
Caudatenucleus3.55
Cerebellum3.2
CerebellumPeduncles4.5
CiliaryGanglion2.8
CingulateCortex4.05
Colorectaladenocarcinoma10.55
DorsalRootGanglion3
FetalThyroid3.8
Fetalbrain3.95
Fetalliver3.75
Fetallung3.3
GlobusPallidus2.9
Heart5
Hypothalamus4.3
Kidney3.25
Leukemia_chronicMyelogenousK-5624.35
Leukemia_promyelocytic-HL-605.9
Leukemialymphoblastic(MOLT-4)137.3
Liver5.15
Lung4.3
Lymphnode3.4
Lymphoma_burkitts(Daudi)11.2
Lymphoma_burkitts(Raji)5.65
MedullaOblongata3.6
OccipitalLobe3.55
OlfactoryBulb3.1
Ovary2.6
Pancreas3.2
PancreaticIslet4.2
ParietalLobe4.2
Pituitary4.65
Placenta4.05
Pons3.75
PrefrontalCortex4.85
Prostate4.6
Salivarygland3.2
SkeletalMuscle4.55
Skin3.1
SmoothMuscle4.5
Spinalcord4.25
SubthalamicNucleus3.55
SuperiorCervicalGanglion4.5
TemporalLobe3.65
Testis6.4
TestisGermCell4.35
TestisIntersitial3.35
TestisLeydigCell3.9
TestisSeminiferousTubule3.95
Thalamus4
Thymus3.35
Thyroid4.9
Tongue5.55
Tonsil6.35
Trachea3.3
TrigeminalGanglion4
Uterus3.25
UterusCorpus3.55
WholeBlood4.3
Wholebrain3.35
colon3.95
pineal_day4.94
pineal_night4.82
retina4.8
small_intestine3.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P119007
  • 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
Amygdala2.13 ± 1.09
Basal Forebrain1.73 ± 0.32
Basal Part of Pons1.34 ± 0.42
Cerebellar Cortex1.45 ± 0.43
Cerebellar Nuclei2.21 ± 0.75
Claustrum2.53 ± 0.87
Epithalamus1.21 ± 0.66
Frontal Lobe1.47 ± 0.71
Globus Pallidus2.5 ± 1.23
Hypothalamus1.66 ± 0.71
Insula1.46 ± 0.42
Limbic Lobe1.62 ± 0.64
Mesencephalon1.79 ± 0.68
Myelencephalon1.65 ± 0.75
Occipital Lobe1.75 ± 0.75
Parietal Lobe1.65 ± 0.62
Pontine Tegmentum1.68 ± 0.68
Striatum1.72 ± 0.53
Subthalamus1.72 ± 0.56
Temporal Lobe1.52 ± 0.72
Thalamus1.6 ± 0.64
White Matter2.15 ± 0.31
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Espl1CBCerebellum42.56
64.7
Espl1CTXCerebral cortex81.41
67.52
Espl1HIPHippocampal region42.41
62.65
Espl1HPFHippocampal formation50.49
59.91
Espl1HYHypothalamus49.5
41.18
Espl1LSXLateral septal complex44.05
32.21
Espl1MBMidbrain51.96
49.35
Espl1MYMedulla54.37
65.45
Espl1OLFOlfactory bulb75.58
67.76
Espl1PPons53.29
59.23
Espl1PALPallidum48.75
45.15
Espl1RHPRetrohippocampal region65.86
58.63
Espl1sAMYStriatum-like amygdalar nuclei52.17
39.86
Espl1STRStriatum54.14
41.33
Espl1STRdStriatum dorsal region55.54
43.45
Espl1STRvStriatum ventral region58.01
40.81
Espl1THThalamus65.62
60
Peptide Top

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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