AutismKB 2.0

Annotation Detail for ESCO1


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Basic Information Top
Gene Symbol:ESCO1 ( A930014I12Rik,CTF,ECO1,EFO1,ESO1,KIAA1911,MGC105022 )
Gene Full Name: establishment of cohesion 1 homolog 1 (S. cerevisiae)
Band: 18q11.2
Quick LinksEntrez ID:114799; OMIM: 609674; Uniprot ID:ESCO1_HUMAN; ENSEMBL ID: ENSG00000141446; HGNC ID: 24645
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 body2 / 7076128
blastocyst1 / 6231916
fetus24 / 56401242
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult34 / 193912117
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) tumor2 / 9417821
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor1 / 1193698
germ cell tumor6 / 26384522
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor2 / 6895929
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal76 / 336030722
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone2 / 7165527
bone marrow2 / 4880140
brain13 / 110098911
cervix1 / 4817120
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus1 / 2020949
eye4 / 21105418
heart5 / 8962655
intestine2 / 2344728
kidney5 / 21177723
larynx0 / 241450 
liver0 / 2077430 
lung4 / 33697411
lymph1 / 4427022
lymph node7 / 9161076
mammary gland5 / 15327132
mouth0 / 670520 
muscle4 / 10771537
nerve2 / 15768126
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta7 / 28082524
prostate9 / 18934547
salivary gland2 / 2015599
skin3 / 21057414
spleen0 / 539520 
stomach1 / 9661910
testis14 / 33044242
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P317347
  • 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
Amygdala3.55 ± 0.81
Basal Forebrain3.31 ± 0.35
Basal Part of Pons3.47 ± 0.51
Cerebellar Cortex3.9 ± 0.3
Cerebellar Nuclei3.6 ± 0.47
Claustrum3.88 ± 0.71
Epithalamus3.51 ± 0.55
Frontal Lobe3.48 ± 0.56
Globus Pallidus3.67 ± 0.41
Hypothalamus3.68 ± 0.47
Insula3.42 ± 0.57
Limbic Lobe3.49 ± 0.59
Mesencephalon3.64 ± 0.62
Myelencephalon3.55 ± 0.56
Occipital Lobe3.82 ± 0.4
Parietal Lobe3.56 ± 0.64
Pontine Tegmentum3.68 ± 0.69
Striatum3.35 ± 0.65
Subthalamus3.72 ± 0.29
Temporal Lobe3.45 ± 0.53
Thalamus3.66 ± 0.51
White Matter4.06 ± 0.1
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Esco1CBCerebellum17.15
17.25
Esco1CTXCerebral cortex79.5
62.06
Esco1HIPHippocampal region28.12
32.55
Esco1HPFHippocampal formation32.22
32.6
Esco1HYHypothalamus24.6
19.95
Esco1LSXLateral septal complex41.26
31.28
Esco1MBMidbrain23.77
20.97
Esco1MYMedulla11.77
11.76
Esco1OLFOlfactory bulb58.66
52.39
Esco1PPons16.91
17.27
Esco1PALPallidum25.37
22.77
Esco1RHPRetrohippocampal region41.17
34.12
Esco1sAMYStriatum-like amygdalar nuclei32.84
25.85
Esco1STRStriatum34.33
25.87
Esco1STRdStriatum dorsal region34.11
26.04
Esco1STRvStriatum ventral region33.41
23.33
Esco1THThalamus34.21
27.88
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