AutismKB 2.0

Annotation Detail for ESF1


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Basic Information Top
Gene Symbol:ESF1 ( ABTAP,C20orf6,FLJ20368,bA526K24.1 )
Gene Full Name: ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)
Band: 20p12.1
Quick LinksEntrez ID:51575; OMIM: NA; Uniprot ID:ESF1_HUMAN; ENSEMBL ID: ENSG00000089048; HGNC ID: 15898
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 body1 / 7076114
blastocyst5 / 6231980
fetus20 / 56401235
neonate1 / 3109732
infant0 / 236200 
juvenile5 / 5555689
adult46 / 193912123
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) tumor2 / 9417821
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor8 / 26384530
glioma2 / 10688318
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor6 / 9635962
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal97 / 336030728
ovarian tumor4 / 7668252
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor3 / 12494924
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites2 / 4001549
bladder1 / 2975733
blood2 / 12347816
bone0 / 716550 
bone marrow1 / 4880120
brain15 / 110098913
cervix2 / 4817141
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue14 / 21572264
esophagus0 / 202090 
eye4 / 21105418
heart1 / 8962611
intestine7 / 23447229
kidney4 / 21177718
larynx0 / 241450 
liver17 / 20774381
lung6 / 33697417
lymph0 / 442700 
lymph node4 / 9161043
mammary gland8 / 15327152
mouth1 / 6705214
muscle5 / 10771546
nerve0 / 157680 
ovary4 / 10205139
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate6 / 18934531
salivary gland0 / 201550 
skin4 / 21057418
spleen0 / 539520 
stomach3 / 9661931
testis14 / 33044242
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus4 / 23287817
vascular2 / 5178038
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218859_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts140.5
Adipocyte15.3
AdrenalCortex23.95
Adrenalgland10.35
Amygdala14.8
Appendix17
AtrioventricularNode17.8
BDCA4+_DentriticCells67.05
Bonemarrow16
BronchialEpithelialCells16.7
CD105+_Endothelial147.85
CD14+_Monocytes35.1
CD19+_BCells(neg._sel.)176.05
CD33+_Myeloid61
CD34+198.9
CD4+_Tcells48.8
CD56+_NKCells111.95
CD71+_EarlyErythroid15.75
CD8+_Tcells56.2
CardiacMyocytes34.1
Caudatenucleus12.9
Cerebellum11.4
CerebellumPeduncles20.15
CiliaryGanglion16.6
CingulateCortex23.2
Colorectaladenocarcinoma18.45
DorsalRootGanglion15.95
FetalThyroid18.65
Fetalbrain12.95
Fetalliver10.75
Fetallung8.65
GlobusPallidus13.5
Heart22.6
Hypothalamus16.75
Kidney11.35
Leukemia_chronicMyelogenousK-56213.15
Leukemia_promyelocytic-HL-6014.55
Leukemialymphoblastic(MOLT-4)19.45
Liver18.75
Lung12.75
Lymphnode9.5
Lymphoma_burkitts(Daudi)16.3
Lymphoma_burkitts(Raji)27.95
MedullaOblongata16.45
OccipitalLobe14.1
OlfactoryBulb16.55
Ovary12.65
Pancreas13.65
PancreaticIslet16.55
ParietalLobe19.15
Pituitary15.2
Placenta10.7
Pons13.25
PrefrontalCortex17.4
Prostate14.95
Salivarygland12.25
SkeletalMuscle18.45
Skin17.05
SmoothMuscle17.5
Spinalcord16.55
SubthalamicNucleus17.9
SuperiorCervicalGanglion33.7
TemporalLobe24.05
Testis10.1
TestisGermCell13.1
TestisIntersitial27.75
TestisLeydigCell18.75
TestisSeminiferousTubule13.35
Thalamus12.6
Thymus7.5
Thyroid14
Tongue38.75
Tonsil15.75
Trachea12.6
TrigeminalGanglion27.5
Uterus16.95
UterusCorpus15.55
WholeBlood12.8
Wholebrain9.45
colon11.75
pineal_day90.12
pineal_night54.26
retina23.9
small_intestine12
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P205263
  • 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
Amygdala7.9 ± 0.27
Basal Forebrain8.02 ± 0.26
Basal Part of Pons7.73 ± 0.16
Cerebellar Cortex7.92 ± 0.15
Cerebellar Nuclei7.78 ± 0.23
Claustrum8.03 ± 0.2
Epithalamus8.49 ± 0.34
Frontal Lobe7.81 ± 0.26
Globus Pallidus8.59 ± 0.19
Hypothalamus7.86 ± 0.18
Insula7.82 ± 0.25
Limbic Lobe7.83 ± 0.23
Mesencephalon7.93 ± 0.26
Myelencephalon7.88 ± 0.31
Occipital Lobe8.01 ± 0.3
Parietal Lobe7.87 ± 0.26
Pontine Tegmentum7.93 ± 0.25
Striatum8.14 ± 0.25
Subthalamus7.97 ± 0.17
Temporal Lobe7.82 ± 0.23
Thalamus7.89 ± 0.23
White Matter8.58 ± 0.31
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2610101J03RikCBCerebellum20.09
24.07
2610101J03RikCTXCerebral cortex57.8
47.54
2610101J03RikHIPHippocampal region31.93
46.97
2610101J03RikHPFHippocampal formation27.54
34.06
2610101J03RikHYHypothalamus9.53
6.89
2610101J03RikLSXLateral septal complex8.06
5.26
2610101J03RikMBMidbrain21.99
19.69
2610101J03RikMYMedulla29.3
27.72
2610101J03RikOLFOlfactory bulb34.08
32.44
2610101J03RikPPons18.54
16.72
2610101J03RikPALPallidum14.1
11.41
2610101J03RikRHPRetrohippocampal region20.43
16.47
2610101J03RiksAMYStriatum-like amygdalar nuclei9.84
6.7
2610101J03RikSTRStriatum15.66
11.42
2610101J03RikSTRdStriatum dorsal region14.24
10.59
2610101J03RikSTRvStriatum ventral region25.82
17.72
2610101J03RikTHThalamus22.6
18.52
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ESF1_HUMAN_2 11 2 12 SSKQEIMSDQR PRIDE
ESF1_HUMAN_651 27 651 677 ALAEEASEEELPSDVDLNDPYFAEEVK PRIDE
ESF1_HUMAN_691 13 691 703 DGTSPEEEIEIER PRIDE
PAp00068853 14 57 70 GRPISHSTTEDLKR 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