AutismKB 2.0

Annotation Detail for ESCO2


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Basic Information Top
Gene Symbol:ESCO2 ( 2410004I17Rik,EFO2,RBS )
Gene Full Name: establishment of cohesion 1 homolog 2 (S. cerevisiae)
Band: 8p21.1
Quick LinksEntrez ID:157570; OMIM: 609353; Uniprot ID:ESCO2_HUMAN; ENSEMBL ID: ENSG00000171320; HGNC ID: 27230
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 body0 / 707610 
blastocyst1 / 6231916
fetus13 / 56401223
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult20 / 193912110
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma3 / 17475171
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor2 / 6895929
leukemia4 / 9584241
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal42 / 336030712
ovarian tumor8 / 76682104
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
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 
ascites0 / 400150 
bladder4 / 29757134
blood1 / 1234788
bone3 / 7165541
bone marrow1 / 4880120
brain4 / 11009893
cervix0 / 481710 
connective tissue0 / 1492550 
ear2 / 16212123
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine1 / 2344724
kidney2 / 2117779
larynx0 / 241450 
liver5 / 20774324
lung2 / 3369745
lymph0 / 442700 
lymph node13 / 91610141
mammary gland2 / 15327113
mouth1 / 6705214
muscle2 / 10771518
nerve0 / 157680 
ovary8 / 10205178
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland2 / 2015599
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis13 / 33044239
thymus3 / 8113136
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
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: CUST_13150_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
Amygdala2.08 ± 0.97
Basal Forebrain1.41 ± 0.2
Basal Part of Pons1.4 ± 0.45
Cerebellar Cortex1.49 ± 0.76
Cerebellar Nuclei1.93 ± 0.7
Claustrum2.46 ± 1.01
Epithalamus1.36 ± 0.86
Frontal Lobe1.57 ± 0.75
Globus Pallidus2.22 ± 0.31
Hypothalamus1.55 ± 0.68
Insula1.29 ± 0.41
Limbic Lobe1.75 ± 0.71
Mesencephalon1.85 ± 0.8
Myelencephalon1.62 ± 0.69
Occipital Lobe1.55 ± 0.61
Parietal Lobe1.71 ± 0.81
Pontine Tegmentum1.68 ± 0.77
Striatum1.71 ± 0.5
Subthalamus2.13 ± 1.03
Temporal Lobe1.57 ± 0.77
Thalamus1.56 ± 0.66
White Matter2.84 ± 0.99
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Esco2CBCerebellum3.22
4.17
Esco2CTXCerebral cortex9.46
6.66
Esco2HIPHippocampal region7.15
6.23
Esco2HPFHippocampal formation6.6
5.28
Esco2HYHypothalamus4.03
3.76
Esco2LSXLateral septal complex0.21
0.14
Esco2MBMidbrain5.76
6.77
Esco2MYMedulla4.58
5.22
Esco2OLFOlfactory bulb5.79
5.18
Esco2PPons6.59
9.57
Esco2PALPallidum4.93
4.01
Esco2RHPRetrohippocampal region4.96
3.52
Esco2sAMYStriatum-like amygdalar nuclei8.15
5.01
Esco2STRStriatum5.81
4.23
Esco2STRdStriatum dorsal region6.39
4.74
Esco2STRvStriatum ventral region4.21
3.03
Esco2THThalamus7.8
6.32
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