AutismKB 2.0

Annotation Detail for IQSEC2


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Basic Information Top
Gene Symbol:IQSEC2 ( BRAG1,KIAA0522,MRX1 )
Gene Full Name: IQ motif and Sec7 domain 2
Band: Xp11.22
Quick LinksEntrez ID:23096; OMIM: 300522; Uniprot ID:IQEC2_HUMAN; ENSEMBL ID: ENSG00000124313; HGNC ID: 29059
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 
blastocyst2 / 6231932
fetus4 / 5640127
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult25 / 193912112
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor5 / 26384518
glioma2 / 10688318
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal35 / 336030710
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor3 / 12494924
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain12 / 110098910
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye3 / 21105414
heart1 / 8962611
intestine0 / 2344720 
kidney5 / 21177723
larynx0 / 241450 
liver1 / 2077434
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate2 / 18934510
salivary gland2 / 2015599
skin5 / 21057423
spleen0 / 539520 
stomach1 / 9661910
testis4 / 33044212
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214819_at
Cell line Expression level Expression bar
721_B_lymphoblasts12.75
Adipocyte29.5
AdrenalCortex54
Adrenalgland44.2
Amygdala31.4
Appendix37.15
AtrioventricularNode26.45
BDCA4+_DentriticCells16.45
Bonemarrow66.95
BronchialEpithelialCells24.45
CD105+_Endothelial14.65
CD14+_Monocytes15.2
CD19+_BCells(neg._sel.)12
CD33+_Myeloid26.5
CD34+18.65
CD4+_Tcells14.7
CD56+_NKCells15.6
CD71+_EarlyErythroid22.55
CD8+_Tcells10.4
CardiacMyocytes34.8
Caudatenucleus57
Cerebellum47.05
CerebellumPeduncles73.85
CiliaryGanglion28.8
CingulateCortex86.75
Colorectaladenocarcinoma29.75
DorsalRootGanglion27.6
FetalThyroid37.3
Fetalbrain56.75
Fetalliver55.55
Fetallung22.65
GlobusPallidus64.6
Heart49.95
Hypothalamus28.9
Kidney36.7
Leukemia_chronicMyelogenousK-56228.5
Leukemia_promyelocytic-HL-6023.4
Leukemialymphoblastic(MOLT-4)37.85
Liver31
Lung21.45
Lymphnode32.95
Lymphoma_burkitts(Daudi)46.3
Lymphoma_burkitts(Raji)27.95
MedullaOblongata53.1
OccipitalLobe58.35
OlfactoryBulb20.9
Ovary20.15
Pancreas20.85
PancreaticIslet22.1
ParietalLobe65.15
Pituitary41.3
Placenta25.65
Pons63.35
PrefrontalCortex60.45
Prostate25.95
Salivarygland20.6
SkeletalMuscle58.55
Skin32.75
SmoothMuscle33.25
Spinalcord34.5
SubthalamicNucleus77.8
SuperiorCervicalGanglion40.85
TemporalLobe54.3
Testis27.55
TestisGermCell20.55
TestisIntersitial21.6
TestisLeydigCell24.4
TestisSeminiferousTubule22.1
Thalamus37.7
Thymus17.3
Thyroid25.7
Tongue30.65
Tonsil47.05
Trachea30.85
TrigeminalGanglion30.7
Uterus11.9
UterusCorpus29.25
WholeBlood23.05
Wholebrain29.15
colon18.65
pineal_day22.68
pineal_night19.94
retina31.05
small_intestine14.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P159445
  • 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
Amygdala10.43 ± 0.73
Basal Forebrain10.25 ± 0.3
Basal Part of Pons10.31 ± 0.42
Cerebellar Cortex9.71 ± 0.29
Cerebellar Nuclei10.46 ± 0.34
Claustrum10.63 ± 0.54
Epithalamus9.47 ± 0.49
Frontal Lobe10.28 ± 0.56
Globus Pallidus10.57 ± 0.16
Hypothalamus10.2 ± 0.46
Insula10.11 ± 0.5
Limbic Lobe10.21 ± 0.53
Mesencephalon10.37 ± 0.52
Myelencephalon10.22 ± 0.55
Occipital Lobe10.09 ± 0.55
Parietal Lobe10.21 ± 0.46
Pontine Tegmentum10.12 ± 0.42
Striatum10.47 ± 0.59
Subthalamus10.12 ± 0.27
Temporal Lobe10.12 ± 0.58
Thalamus10.3 ± 0.43
White Matter10.26 ± 0.66
Mouse Brain ISH
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


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