AutismKB 2.0

Annotation Detail for IQCB1


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Basic Information Top
Gene Symbol:IQCB1 ( NPHP5,PIQ,SLSN5 )
Gene Full Name: IQ motif containing B1
Band: 3q13.33
Quick LinksEntrez ID:9657; OMIM: 609237; Uniprot ID:IQCB1_HUMAN; ENSEMBL ID: ENSG00000173226; HGNC ID: 28949
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
blastocyst2 / 6231932
fetus9 / 56401215
neonate0 / 310970 
infant0 / 236200 
juvenile4 / 5555671
adult72 / 193912137
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) tumor2 / 9417821
cervical tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor11 / 11936992
germ cell tumor7 / 26384526
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor2 / 6895929
leukemia10 / 95842104
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma6 / 7175583
non-neoplasia1 / 9725010
normal69 / 336030720
ovarian tumor5 / 7668265
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer0 / 1026800 
retinoblastoma3 / 4635664
skin tumor2 / 12494916
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood7 / 12347856
bone2 / 7165527
bone marrow7 / 48801143
brain6 / 11009895
cervix8 / 48171166
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye9 / 21105442
heart1 / 8962611
intestine6 / 23447225
kidney18 / 21177784
larynx0 / 241450 
liver4 / 20774319
lung5 / 33697414
lymph2 / 4427045
lymph node13 / 91610141
mammary gland3 / 15327119
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary4 / 10205139
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin7 / 21057433
spleen0 / 539520 
stomach10 / 96619103
testis14 / 33044242
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus11 / 23287847
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211707_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts54.25
Adipocyte11.8
AdrenalCortex13.75
Adrenalgland11.45
Amygdala15.55
Appendix14.9
AtrioventricularNode11.65
BDCA4+_DentriticCells26.65
Bonemarrow14.1
BronchialEpithelialCells12.85
CD105+_Endothelial23.25
CD14+_Monocytes14
CD19+_BCells(neg._sel.)33.25
CD33+_Myeloid21.65
CD34+31.4
CD4+_Tcells15.25
CD56+_NKCells17.45
CD71+_EarlyErythroid13.15
CD8+_Tcells16.3
CardiacMyocytes19.8
Caudatenucleus11.4
Cerebellum10.6
CerebellumPeduncles12.1
CiliaryGanglion9.75
CingulateCortex13.9
Colorectaladenocarcinoma14.25
DorsalRootGanglion11.05
FetalThyroid13.4
Fetalbrain13.65
Fetalliver14.75
Fetallung11.55
GlobusPallidus8.95
Heart18.65
Hypothalamus14.1
Kidney11.35
Leukemia_chronicMyelogenousK-56223.6
Leukemia_promyelocytic-HL-6034.95
Leukemialymphoblastic(MOLT-4)22.15
Liver18.55
Lung14.2
Lymphnode20.05
Lymphoma_burkitts(Daudi)84.8
Lymphoma_burkitts(Raji)29.05
MedullaOblongata12.05
OccipitalLobe11.55
OlfactoryBulb12.85
Ovary10.55
Pancreas11.05
PancreaticIslet18.1
ParietalLobe14.15
Pituitary15.25
Placenta12.7
Pons12.6
PrefrontalCortex16.95
Prostate17.85
Salivarygland11.05
SkeletalMuscle14.95
Skin15.2
SmoothMuscle13.25
Spinalcord12.6
SubthalamicNucleus11.65
SuperiorCervicalGanglion18.35
TemporalLobe10.85
Testis25.85
TestisGermCell13.8
TestisIntersitial18.55
TestisLeydigCell24.55
TestisSeminiferousTubule19.8
Thalamus13.5
Thymus10.8
Thyroid16.6
Tongue14.45
Tonsil18
Trachea11.35
TrigeminalGanglion12.4
Uterus12.65
UterusCorpus11.8
WholeBlood14.65
Wholebrain9.55
colon13.55
pineal_day23.74
pineal_night21.52
retina15.175
small_intestine12.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14928_PI416261804
  • 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
Amygdala4.77 ± 0.28
Basal Forebrain4.16 ± 0.38
Basal Part of Pons4.55 ± 0.37
Cerebellar Cortex4.34 ± 0.59
Cerebellar Nuclei4.32 ± 0.41
Claustrum4.77 ± 0.68
Epithalamus4.81 ± 0.47
Frontal Lobe4.45 ± 0.5
Globus Pallidus4.29 ± 0.38
Hypothalamus4.39 ± 0.42
Insula4.42 ± 0.47
Limbic Lobe4.61 ± 0.52
Mesencephalon4.55 ± 0.51
Myelencephalon4.42 ± 0.54
Occipital Lobe4.72 ± 0.48
Parietal Lobe4.56 ± 0.46
Pontine Tegmentum4.45 ± 0.52
Striatum4.52 ± 0.49
Subthalamus4.5 ± 0.36
Temporal Lobe4.52 ± 0.44
Thalamus4.27 ± 0.64
White Matter4.75 ± 0.39
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Iqcb1CBCerebellum18.02
18.73
Iqcb1CTXCerebral cortex35.6
24.36
Iqcb1HIPHippocampal region24.69
22.99
Iqcb1HPFHippocampal formation29.96
25.92
Iqcb1HYHypothalamus23.29
17.81
Iqcb1LSXLateral septal complex14.53
9.56
Iqcb1MBMidbrain26.57
23.19
Iqcb1MYMedulla32.62
33.53
Iqcb1OLFOlfactory bulb41.73
31.88
Iqcb1PPons27.55
27.39
Iqcb1PALPallidum25.02
20.6
Iqcb1RHPRetrohippocampal region37.86
29.22
Iqcb1sAMYStriatum-like amygdalar nuclei25.85
18.04
Iqcb1STRStriatum20.83
14.01
Iqcb1STRdStriatum dorsal region18.92
12.83
Iqcb1STRvStriatum ventral region26.52
16.58
Iqcb1THThalamus17.07
13.07
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
IQCB1_HUMAN_1 9 1 9 MKPTGTDPR PRIDE

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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