AutismKB 2.0

Annotation Detail for ECSIT


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Basic Information Top
Gene Symbol:ECSIT ( SITPEC )
Gene Full Name: ECSIT homolog (Drosophila)
Band: 19p13.2
Quick LinksEntrez ID:51295; OMIM: 608388; Uniprot ID:ECSIT_HUMAN; ENSEMBL ID: ENSG00000130159; HGNC ID: 29548
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
blastocyst3 / 6231948
fetus32 / 56401256
neonate0 / 310970 
infant1 / 2362042
juvenile9 / 55556161
adult97 / 193912150
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 tumor3 / 3436687
chondrosarcoma3 / 8282336
colorectal tumor9 / 11424678
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor7 / 26384526
glioma13 / 106883121
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia9 / 9584293
liver tumor0 / 963590 
lung tumor12 / 103127116
lymphoma23 / 71755320
non-neoplasia0 / 972500 
normal157 / 336030746
ovarian tumor3 / 7668239
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS41 / 125680326
prostate cancer4 / 10268038
retinoblastoma11 / 46356237
skin tumor11 / 12494988
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood17 / 123478137
bone1 / 7165513
bone marrow0 / 488010 
brain49 / 110098944
cervix7 / 48171145
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye20 / 21105494
heart6 / 8962666
intestine14 / 23447259
kidney9 / 21177742
larynx0 / 241450 
liver0 / 2077430 
lung24 / 33697471
lymph14 / 44270316
lymph node1 / 9161010
mammary gland4 / 15327126
mouth0 / 670520 
muscle2 / 10771518
nerve1 / 1576863
ovary8 / 10205178
pancreas6 / 21481227
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta17 / 28082560
prostate7 / 18934536
salivary gland0 / 201550 
skin13 / 21057461
spleen0 / 539520 
stomach9 / 9661993
testis0 / 3304420 
thymus1 / 8113112
thyroid2 / 4747342
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus9 / 23287838
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218225_at
Cell line Expression level Expression bar
721_B_lymphoblasts84.35
Adipocyte23.95
AdrenalCortex25.3
Adrenalgland22.7
Amygdala22.8
Appendix20.7
AtrioventricularNode17.55
BDCA4+_DentriticCells35.45
Bonemarrow26.5
BronchialEpithelialCells21.5
CD105+_Endothelial46
CD14+_Monocytes58.65
CD19+_BCells(neg._sel.)39.75
CD33+_Myeloid33.35
CD34+50.15
CD4+_Tcells32.25
CD56+_NKCells32.8
CD71+_EarlyErythroid29.4
CD8+_Tcells29.45
CardiacMyocytes31.85
Caudatenucleus23.2
Cerebellum24.35
CerebellumPeduncles50.1
CiliaryGanglion10.5
CingulateCortex24.5
Colorectaladenocarcinoma30.6
DorsalRootGanglion17.45
FetalThyroid23.2
Fetalbrain31
Fetalliver12.45
Fetallung19.5
GlobusPallidus18.3
Heart273.05
Hypothalamus25.65
Kidney26.65
Leukemia_chronicMyelogenousK-56263.85
Leukemia_promyelocytic-HL-6046.3
Leukemialymphoblastic(MOLT-4)21.05
Liver58.85
Lung54.55
Lymphnode20.75
Lymphoma_burkitts(Daudi)65.75
Lymphoma_burkitts(Raji)150.95
MedullaOblongata22.35
OccipitalLobe22.7
OlfactoryBulb16.5
Ovary15.4
Pancreas21
PancreaticIslet32.75
ParietalLobe29.25
Pituitary20.9
Placenta18.25
Pons24.35
PrefrontalCortex32.55
Prostate43.65
Salivarygland16.8
SkeletalMuscle35.25
Skin17.55
SmoothMuscle24.85
Spinalcord24.8
SubthalamicNucleus21.55
SuperiorCervicalGanglion24.6
TemporalLobe31.85
Testis20
TestisGermCell13.85
TestisIntersitial16.6
TestisLeydigCell21.35
TestisSeminiferousTubule19.55
Thalamus33.85
Thymus20.25
Thyroid42.1
Tongue27.5
Tonsil24.5
Trachea19.25
TrigeminalGanglion22.9
Uterus25.45
UterusCorpus22.15
WholeBlood21.5
Wholebrain54.15
colon27.05
pineal_day38.38
pineal_night41.28
retina38.15
small_intestine26.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P119295
  • 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
Amygdala8.61 ± 0.24
Basal Forebrain8.74 ± 0.15
Basal Part of Pons9.34 ± 0.13
Cerebellar Cortex9.05 ± 0.16
Cerebellar Nuclei9.49 ± 0.33
Claustrum8.79 ± 0.3
Epithalamus8.53 ± 0.17
Frontal Lobe9.05 ± 0.26
Globus Pallidus8.6 ± 0.17
Hypothalamus8.69 ± 0.16
Insula8.93 ± 0.15
Limbic Lobe8.79 ± 0.32
Mesencephalon8.81 ± 0.27
Myelencephalon8.85 ± 0.35
Occipital Lobe8.65 ± 0.33
Parietal Lobe9.02 ± 0.26
Pontine Tegmentum8.88 ± 0.25
Striatum8.5 ± 0.28
Subthalamus9.3 ± 0.09
Temporal Lobe8.99 ± 0.18
Thalamus8.92 ± 0.22
White Matter8.09 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
EcsitCBCerebellum25.79
34.81
EcsitCTXCerebral cortex78.9
64.15
EcsitHIPHippocampal region45.04
61.4
EcsitHPFHippocampal formation49.52
56.37
EcsitHYHypothalamus51.78
44.44
EcsitLSXLateral septal complex26.87
20.03
EcsitMBMidbrain38.94
37.9
EcsitMYMedulla51.67
62.63
EcsitOLFOlfactory bulb88.71
80.63
EcsitPPons47.42
56.57
EcsitPALPallidum56.36
59.3
EcsitRHPRetrohippocampal region59.5
49.28
EcsitsAMYStriatum-like amygdalar nuclei44.76
35.66
EcsitSTRStriatum69.52
53.84
EcsitSTRdStriatum dorsal region72.99
54.05
EcsitSTRvStriatum ventral region86.61
74.15
EcsitTHThalamus55.61
51.55
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001479 8 299 306 CVYYHILR 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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