AutismKB 2.0

Annotation Detail for CD320


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Basic Information Top
Gene Symbol:CD320 ( 8D6,8D6A,TCBLR )
Gene Full Name: CD320 molecule
Band: 19p13.2
Quick LinksEntrez ID:51293; OMIM: 606475; Uniprot ID:CD320_HUMAN; ENSEMBL ID: ENSG00000167775; HGNC ID: 16692
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 body5 / 7076170
blastocyst1 / 6231916
fetus21 / 56401237
neonate0 / 310970 
infant1 / 2362042
juvenile2 / 5555635
adult63 / 193912132
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor2 / 9417821
cervical tumor3 / 3436687
chondrosarcoma2 / 8282324
colorectal tumor4 / 11424635
esophageal tumor1 / 1729057
gastrointestinal tumor6 / 11936950
germ cell tumor3 / 26384511
glioma6 / 10688356
head and neck tumor0 / 1363020 
kidney tumor3 / 6895943
leukemia3 / 9584231
liver tumor6 / 9635962
lung tumor7 / 10312767
lymphoma14 / 71755195
non-neoplasia0 / 972500 
normal91 / 336030727
ovarian tumor8 / 76682104
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS29 / 125680230
prostate cancer8 / 10268077
retinoblastoma3 / 4635664
skin tumor24 / 124949192
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites2 / 4001549
bladder0 / 297570 
blood4 / 12347832
bone4 / 7165555
bone marrow0 / 488010 
brain50 / 110098945
cervix5 / 48171103
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus1 / 2020949
eye11 / 21105452
heart0 / 896260 
intestine14 / 23447259
kidney6 / 21177728
larynx0 / 241450 
liver10 / 20774348
lung11 / 33697432
lymph5 / 44270112
lymph node2 / 9161021
mammary gland2 / 15327113
mouth0 / 670520 
muscle8 / 10771574
nerve1 / 1576863
ovary11 / 102051107
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta11 / 28082539
prostate9 / 18934547
salivary gland0 / 201550 
skin25 / 210574118
spleen4 / 5395274
stomach3 / 9661931
testis4 / 33044212
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus3 / 23287812
vascular1 / 5178019
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218529_at
Cell line Expression level Expression bar
721_B_lymphoblasts96.35
Adipocyte15.8
AdrenalCortex16.85
Adrenalgland14.15
Amygdala18.3
Appendix15.85
AtrioventricularNode12.55
BDCA4+_DentriticCells30.85
Bonemarrow16.05
BronchialEpithelialCells24.1
CD105+_Endothelial18.05
CD14+_Monocytes12.45
CD19+_BCells(neg._sel.)16.9
CD33+_Myeloid7.85
CD34+21.35
CD4+_Tcells22.95
CD56+_NKCells34.25
CD71+_EarlyErythroid15.35
CD8+_Tcells20.95
CardiacMyocytes53.55
Caudatenucleus17.9
Cerebellum19.2
CerebellumPeduncles26.35
CiliaryGanglion12.6
CingulateCortex16.55
Colorectaladenocarcinoma25.3
DorsalRootGanglion12.45
FetalThyroid17.55
Fetalbrain18.1
Fetalliver14.25
Fetallung15.15
GlobusPallidus12.35
Heart426.85
Hypothalamus22.5
Kidney15.2
Leukemia_chronicMyelogenousK-56236.8
Leukemia_promyelocytic-HL-6040.95
Leukemialymphoblastic(MOLT-4)40.4
Liver34.5
Lung174.7
Lymphnode18
Lymphoma_burkitts(Daudi)30.35
Lymphoma_burkitts(Raji)66.6
MedullaOblongata14.75
OccipitalLobe14.95
OlfactoryBulb13.55
Ovary10.75
Pancreas19.05
PancreaticIslet24.4
ParietalLobe22.2
Pituitary25.1
Placenta164.65
Pons17.5
PrefrontalCortex20.85
Prostate131.55
Salivarygland10.5
SkeletalMuscle19.5
Skin12.5
SmoothMuscle45.2
Spinalcord18.8
SubthalamicNucleus17.7
SuperiorCervicalGanglion18.2
TemporalLobe14.5
Testis111.05
TestisGermCell30.85
TestisIntersitial22.1
TestisLeydigCell22.35
TestisSeminiferousTubule24.5
Thalamus26.05
Thymus20.15
Thyroid111.5
Tongue16.2
Tonsil16.25
Trachea13.6
TrigeminalGanglion15.25
Uterus21.1
UterusCorpus10.7
WholeBlood23.9
Wholebrain40.55
colon16.8
pineal_day124.64
pineal_night103.86
retina20.05
small_intestine18.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12282_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
Amygdala7.15 ± 0.26
Basal Forebrain7.41 ± 0.22
Basal Part of Pons7.76 ± 0.37
Cerebellar Cortex7.6 ± 0.4
Cerebellar Nuclei7.94 ± 0.3
Claustrum7.03 ± 0.45
Epithalamus7.52 ± 0.46
Frontal Lobe7.72 ± 0.39
Globus Pallidus7.58 ± 0.22
Hypothalamus7.83 ± 0.31
Insula7.68 ± 0.29
Limbic Lobe7.39 ± 0.34
Mesencephalon7.6 ± 0.4
Myelencephalon7.63 ± 0.37
Occipital Lobe7.39 ± 0.31
Parietal Lobe7.43 ± 0.35
Pontine Tegmentum7.57 ± 0.38
Striatum7.57 ± 0.3
Subthalamus7.71 ± 0.45
Temporal Lobe7.62 ± 0.36
Thalamus7.76 ± 0.32
White Matter7.03 ± 0.64
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