AutismKB 2.0

Annotation Detail for EXOC1


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Basic Information Top
Gene Symbol:EXOC1 ( BM-102,FLJ10893,SEC3,SEC3L1,SEC3P )
Gene Full Name: exocyst complex component 1
Band: 4q12
Quick LinksEntrez ID:55763; OMIM: 607879; Uniprot ID:EXOC1_HUMAN; ENSEMBL ID: ENSG00000090989; HGNC ID: 30380
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 body4 / 7076156
blastocyst6 / 6231996
fetus51 / 56401290
neonate5 / 31097160
infant1 / 2362042
juvenile4 / 5555671
adult100 / 193912151
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma4 / 17475228
breast (mammary gland) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma4 / 8282348
colorectal tumor5 / 11424643
esophageal tumor1 / 1729057
gastrointestinal tumor2 / 11936916
germ cell tumor27 / 263845102
glioma7 / 10688365
head and neck tumor13 / 13630295
kidney tumor3 / 6895943
leukemia1 / 9584210
liver tumor4 / 9635941
lung tumor2 / 10312719
lymphoma2 / 7175527
non-neoplasia6 / 9725061
normal241 / 336030771
ovarian tumor4 / 7668252
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites1 / 4001524
bladder5 / 29757168
blood3 / 12347824
bone3 / 7165541
bone marrow2 / 4880140
brain108 / 110098998
cervix1 / 4817120
connective tissue9 / 14925560
ear1 / 1621261
embryonic tissue14 / 21572264
esophagus1 / 2020949
eye10 / 21105447
heart3 / 8962633
intestine9 / 23447238
kidney14 / 21177766
larynx1 / 2414541
liver7 / 20774333
lung17 / 33697450
lymph1 / 4427022
lymph node9 / 9161098
mammary gland4 / 15327126
mouth11 / 67052164
muscle5 / 10771546
nerve1 / 1576863
ovary6 / 10205158
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta17 / 28082560
prostate10 / 18934552
salivary gland0 / 201550 
skin10 / 21057447
spleen4 / 5395274
stomach3 / 9661931
testis24 / 33044272
thymus3 / 8113136
thyroid5 / 47473105
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord0 / 136800 
uterus16 / 23287868
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 222127_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts95.8
Adipocyte17.35
AdrenalCortex14.45
Adrenalgland9.75
Amygdala64.25
Appendix17.95
AtrioventricularNode10.4
BDCA4+_DentriticCells114.65
Bonemarrow5.35
BronchialEpithelialCells78.95
CD105+_Endothelial75.95
CD14+_Monocytes109.75
CD19+_BCells(neg._sel.)59.4
CD33+_Myeloid159.25
CD34+124.15
CD4+_Tcells128.65
CD56+_NKCells74.1
CD71+_EarlyErythroid14.95
CD8+_Tcells159.95
CardiacMyocytes24.2
Caudatenucleus23.35
Cerebellum9.9
CerebellumPeduncles15.85
CiliaryGanglion14.2
CingulateCortex63.5
Colorectaladenocarcinoma23.45
DorsalRootGanglion18.05
FetalThyroid18.9
Fetalbrain120.2
Fetalliver15.25
Fetallung25.9
GlobusPallidus14.8
Heart11.85
Hypothalamus129.95
Kidney9.85
Leukemia_chronicMyelogenousK-56244.65
Leukemia_promyelocytic-HL-6024.4
Leukemialymphoblastic(MOLT-4)22.95
Liver14.25
Lung6.1
Lymphnode50.6
Lymphoma_burkitts(Daudi)25.75
Lymphoma_burkitts(Raji)24.25
MedullaOblongata20
OccipitalLobe47.5
OlfactoryBulb19.4
Ovary11.85
Pancreas21.55
PancreaticIslet30.95
ParietalLobe43.6
Pituitary40.55
Placenta7.6
Pons15.5
PrefrontalCortex96.75
Prostate16.45
Salivarygland30.35
SkeletalMuscle7.5
Skin16.15
SmoothMuscle49.75
Spinalcord103.2
SubthalamicNucleus26.15
SuperiorCervicalGanglion16.45
TemporalLobe13.2
Testis10.45
TestisGermCell28.25
TestisIntersitial16.15
TestisLeydigCell18.35
TestisSeminiferousTubule18.15
Thalamus42.65
Thymus8.6
Thyroid70.45
Tongue19.9
Tonsil27.7
Trachea14.7
TrigeminalGanglion19.5
Uterus53.4
UterusCorpus21.25
WholeBlood66.75
Wholebrain18.4
colon18.4
pineal_day174.7
pineal_night132.12
retina40.775
small_intestine7.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P113972
  • 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
Amygdala7.6 ± 0.29
Basal Forebrain7.37 ± 0.19
Basal Part of Pons7.52 ± 0.31
Cerebellar Cortex7.39 ± 0.24
Cerebellar Nuclei7.41 ± 0.19
Claustrum7.76 ± 0.42
Epithalamus7.45 ± 0.2
Frontal Lobe7.44 ± 0.23
Globus Pallidus7.82 ± 0.17
Hypothalamus7.48 ± 0.25
Insula7.43 ± 0.2
Limbic Lobe7.68 ± 0.26
Mesencephalon7.55 ± 0.27
Myelencephalon7.46 ± 0.28
Occipital Lobe7.77 ± 0.29
Parietal Lobe7.48 ± 0.26
Pontine Tegmentum7.48 ± 0.24
Striatum7.28 ± 0.31
Subthalamus7.33 ± 0.16
Temporal Lobe7.47 ± 0.24
Thalamus7.5 ± 0.18
White Matter8.28 ± 0.34
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
EXOC1_HUMAN_1 9 1 9 TAIKHALQR PRIDE
EXOC1_HUMAN_2 9 2 10 TAIKHALQR PRIDE
EXOC1_HUMAN_268 16 268 283 LLSEIEFLVNHMDLAK PRIDE
EXOC1_HUMAN_538 24 538 561 LQQHQSMPGTMAEAEDLDGGTLSR PRIDE
PAp00073962 24 539 562 LQQHQSMPGTMAEAEDLDGGTLSR 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