AutismKB 2.0

Annotation Detail for IQSEC1


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Basic Information Top
Gene Symbol:IQSEC1 ( ARFGEP100,KIAA0763 )
Gene Full Name: IQ motif and Sec7 domain 1
Band: 3p25.2
Quick LinksEntrez ID:9922; OMIM: 610166; Uniprot ID:IQEC1_HUMAN; ENSEMBL ID: ENSG00000144711; HGNC ID: 29112
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 body6 / 7076184
blastocyst3 / 6231948
fetus49 / 56401286
neonate2 / 3109764
infant0 / 236200 
juvenile1 / 5555617
adult131 / 193912167
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor4 / 12794312
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma6 / 8282372
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor15 / 26384556
glioma9 / 10688384
head and neck tumor5 / 13630236
kidney tumor5 / 6895972
leukemia8 / 9584283
liver tumor4 / 9635941
lung tumor3 / 10312729
lymphoma2 / 7175527
non-neoplasia11 / 97250113
normal273 / 336030781
ovarian tumor3 / 7668239
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer6 / 10268058
retinoblastoma9 / 46356194
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland4 / 33197120
ascites0 / 400150 
bladder1 / 2975733
blood5 / 12347840
bone6 / 7165583
bone marrow1 / 4880120
brain81 / 110098973
cervix0 / 481710 
connective tissue10 / 14925566
ear1 / 1621261
embryonic tissue15 / 21572269
esophagus0 / 202090 
eye37 / 211054175
heart9 / 89626100
intestine10 / 23447242
kidney14 / 21177766
larynx3 / 24145124
liver5 / 20774324
lung21 / 33697462
lymph1 / 4427022
lymph node12 / 91610130
mammary gland7 / 15327145
mouth1 / 6705214
muscle2 / 10771518
nerve0 / 157680 
ovary3 / 10205129
pancreas13 / 21481260
parathyroid5 / 20539243
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta13 / 28082546
prostate16 / 18934584
salivary gland0 / 201550 
skin2 / 2105749
spleen3 / 5395255
stomach4 / 9661941
testis10 / 33044230
thymus7 / 8113186
thyroid3 / 4747363
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus6 / 23287825
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203907_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts35.95
Adipocyte12.2
AdrenalCortex20.85
Adrenalgland18.15
Amygdala50.15
Appendix20.85
AtrioventricularNode15.4
BDCA4+_DentriticCells222.15
Bonemarrow26.35
BronchialEpithelialCells12.25
CD105+_Endothelial83.3
CD14+_Monocytes97.3
CD19+_BCells(neg._sel.)87.55
CD33+_Myeloid166
CD34+13.75
CD4+_Tcells81.4
CD56+_NKCells86.8
CD71+_EarlyErythroid122.3
CD8+_Tcells66.5
CardiacMyocytes17.75
Caudatenucleus21.95
Cerebellum35.2
CerebellumPeduncles27
CiliaryGanglion11.1
CingulateCortex45.3
Colorectaladenocarcinoma15.75
DorsalRootGanglion13.8
FetalThyroid17.85
Fetalbrain21.65
Fetalliver18.1
Fetallung14.2
GlobusPallidus24.05
Heart26.6
Hypothalamus24.5
Kidney13.75
Leukemia_chronicMyelogenousK-56214.7
Leukemia_promyelocytic-HL-6019.15
Leukemialymphoblastic(MOLT-4)10.6
Liver27.95
Lung24.75
Lymphnode19
Lymphoma_burkitts(Daudi)24
Lymphoma_burkitts(Raji)125.6
MedullaOblongata34.4
OccipitalLobe40.7
OlfactoryBulb19
Ovary12.65
Pancreas13.35
PancreaticIslet22.4
ParietalLobe50.6
Pituitary22.2
Placenta24.55
Pons27.5
PrefrontalCortex88.2
Prostate32.1
Salivarygland14.1
SkeletalMuscle26.8
Skin15.2
SmoothMuscle13.55
Spinalcord23.25
SubthalamicNucleus20.8
SuperiorCervicalGanglion19.55
TemporalLobe29.55
Testis11.05
TestisGermCell12.3
TestisIntersitial9.65
TestisLeydigCell12.65
TestisSeminiferousTubule10.65
Thalamus24.6
Thymus16.75
Thyroid22.4
Tongue15.2
Tonsil24.2
Trachea15.55
TrigeminalGanglion15.5
Uterus17.95
UterusCorpus17.25
WholeBlood162.6
Wholebrain138.2
colon10.8
pineal_day136.74
pineal_night157.88
retina40.35
small_intestine9.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P6746
  • 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
Amygdala7.06 ± 0.33
Basal Forebrain6.61 ± 0.32
Basal Part of Pons7.51 ± 0.26
Cerebellar Cortex6.81 ± 0.32
Cerebellar Nuclei7.2 ± 0.23
Claustrum7.42 ± 0.31
Epithalamus6.6 ± 0.38
Frontal Lobe7.24 ± 0.41
Globus Pallidus6.14 ± 0.42
Hypothalamus6.71 ± 0.24
Insula7.08 ± 0.39
Limbic Lobe7.05 ± 0.48
Mesencephalon6.82 ± 0.37
Myelencephalon6.96 ± 0.49
Occipital Lobe6.81 ± 0.48
Parietal Lobe7.18 ± 0.39
Pontine Tegmentum6.99 ± 0.3
Striatum6.64 ± 0.49
Subthalamus7.07 ± 0.17
Temporal Lobe7.11 ± 0.33
Thalamus6.87 ± 0.34
White Matter5.96 ± 0.41
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Iqsec1CBCerebellum69.52
100
Iqsec1CTXCerebral cortex100
100
Iqsec1HIPHippocampal region73.16
100
Iqsec1HPFHippocampal formation77.47
100
Iqsec1HYHypothalamus59.21
60.07
Iqsec1LSXLateral septal complex87.32
74.24
Iqsec1MBMidbrain70.43
83.38
Iqsec1MYMedulla79.24
100
Iqsec1OLFOlfactory bulb48.3
48.63
Iqsec1PPons76.61
100
Iqsec1PALPallidum61.03
71.74
Iqsec1RHPRetrohippocampal region85.35
88.94
Iqsec1sAMYStriatum-like amygdalar nuclei47.64
44.96
Iqsec1STRStriatum38.97
33.22
Iqsec1STRdStriatum dorsal region32.36
27.51
Iqsec1STRvStriatum ventral region37.1
29.78
Iqsec1THThalamus73.64
85.94
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00071968 19 733 751 KPIGSLHPGLGCVLSLPHR 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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