AutismKB 2.0

Annotation Detail for GJA8


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Basic Information Top
Gene Symbol:GJA8 ( CAE,CAE1,CX50,CZP1,MP70 )
Gene Full Name: gap junction protein, alpha 8, 50kDa
Band: 1q21.2
Quick LinksEntrez ID:2703; OMIM: 600897; Uniprot ID:CXA8_HUMAN; ENSEMBL ID: ENSG00000121634; HGNC ID: 4281
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 
blastocyst0 / 623190 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult1 / 19391210 
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal5 / 33603071
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
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 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain3 / 11009892
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis3 / 3304429
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208489_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.2
Adipocyte6
AdrenalCortex6.55
Adrenalgland5.15
Amygdala5.9
Appendix6.15
AtrioventricularNode5
BDCA4+_DentriticCells6.25
Bonemarrow6.1
BronchialEpithelialCells5.9
CD105+_Endothelial6
CD14+_Monocytes6.1
CD19+_BCells(neg._sel.)6.35
CD33+_Myeloid7.5
CD34+7.4
CD4+_Tcells6.35
CD56+_NKCells6.55
CD71+_EarlyErythroid5.65
CD8+_Tcells5.25
CardiacMyocytes8.05
Caudatenucleus5.4
Cerebellum4.9
CerebellumPeduncles6.9
CiliaryGanglion4.5
CingulateCortex6.2
Colorectaladenocarcinoma5.9
DorsalRootGanglion4.85
FetalThyroid5.85
Fetalbrain6
Fetalliver5.3
Fetallung4.7
GlobusPallidus4.65
Heart7.7
Hypothalamus6.5
Kidney5.05
Leukemia_chronicMyelogenousK-5625.5
Leukemia_promyelocytic-HL-605.4
Leukemialymphoblastic(MOLT-4)4.8
Liver8
Lung6.5
Lymphnode5.25
Lymphoma_burkitts(Daudi)7.8
Lymphoma_burkitts(Raji)8.5
MedullaOblongata5.5
OccipitalLobe5.4
OlfactoryBulb4.75
Ovary4.05
Pancreas4.9
PancreaticIslet6.5
ParietalLobe6.5
Pituitary7.15
Placenta6.15
Pons5.75
PrefrontalCortex7.3
Prostate6.85
Salivarygland4.85
SkeletalMuscle11.4
Skin4.8
SmoothMuscle6.65
Spinalcord6.45
SubthalamicNucleus6.5
SuperiorCervicalGanglion7.3
TemporalLobe5.55
Testis5.3
TestisGermCell5
TestisIntersitial5.15
TestisLeydigCell6.45
TestisSeminiferousTubule5.7
Thalamus6.15
Thymus4.65
Thyroid6.95
Tongue6.05
Tonsil5.85
Trachea5.05
TrigeminalGanglion6.35
Uterus4.7
UterusCorpus5.5
WholeBlood6.45
Wholebrain4.9
colon5.75
pineal_day7.2
pineal_night7.12
retina7.025
small_intestine5.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_73_PI416383280
  • 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
Amygdala4.95 ± 0.55
Basal Forebrain4.92 ± 0.33
Basal Part of Pons4.78 ± 0.46
Cerebellar Cortex4.74 ± 0.49
Cerebellar Nuclei5.27 ± 0.69
Claustrum5.41 ± 0.71
Epithalamus5.68 ± 0.44
Frontal Lobe4.87 ± 0.62
Globus Pallidus5.69 ± 0.54
Hypothalamus4.93 ± 0.9
Insula4.64 ± 0.6
Limbic Lobe4.85 ± 0.62
Mesencephalon5.01 ± 0.55
Myelencephalon5.12 ± 0.53
Occipital Lobe4.94 ± 0.59
Parietal Lobe4.87 ± 0.55
Pontine Tegmentum4.75 ± 0.52
Striatum4.93 ± 0.64
Subthalamus5.4 ± 0.64
Temporal Lobe4.77 ± 0.66
Thalamus4.97 ± 0.46
White Matter5.04 ± 0.33
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