AutismKB 2.0

Annotation Detail for GJB6


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:GJB6 ( CX30,DFNA3,DFNA3B,DFNB1B,ED2,EDH,HED )
Gene Full Name: gap junction protein, beta 6, 30kDa
Band: 13q12.11
Quick LinksEntrez ID:10804; OMIM: 604418; Uniprot ID:CXB6_HUMAN; ENSEMBL ID: ENSG00000121742; HGNC ID: 4288
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 
fetus10 / 56401217
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult47 / 193912124
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor0 / 2638450 
glioma2 / 10688318
head and neck tumor13 / 13630295
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia32 / 97250329
normal45 / 336030713
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder2 / 2975767
blood0 / 1234780 
bone0 / 716550 
bone marrow1 / 4880120
brain65 / 110098959
cervix0 / 481710 
connective tissue5 / 14925533
ear1 / 1621261
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye6 / 21105428
heart0 / 896260 
intestine1 / 2344724
kidney0 / 2117770 
larynx1 / 2414541
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth5 / 6705274
muscle0 / 1077150 
nerve1 / 1576863
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx8 / 41328193
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach1 / 9661910
testis1 / 3304423
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16228_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
Amygdala6.5 ± 0.46
Basal Forebrain6.63 ± 0.45
Basal Part of Pons5.13 ± 0.5
Cerebellar Cortex5.62 ± 0.35
Cerebellar Nuclei6.81 ± 0.65
Claustrum6.34 ± 0.71
Epithalamus5.7 ± 0.94
Frontal Lobe6.05 ± 0.61
Globus Pallidus7.87 ± 0.48
Hypothalamus6.31 ± 0.44
Insula6.05 ± 0.63
Limbic Lobe5.91 ± 0.68
Mesencephalon6.45 ± 0.68
Myelencephalon6.3 ± 0.79
Occipital Lobe6.42 ± 0.61
Parietal Lobe6.39 ± 0.56
Pontine Tegmentum6.55 ± 0.43
Striatum6.72 ± 0.6
Subthalamus6.21 ± 0.59
Temporal Lobe5.95 ± 0.56
Thalamus6.69 ± 0.55
White Matter4.13 ± 0.24
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gjb6CBCerebellum50.05
43.92
Gjb6CTXCerebral cortex17.49
9.35
Gjb6HIPHippocampal region33.89
19.5
Gjb6HPFHippocampal formation30.96
17.78
Gjb6HYHypothalamus38.85
24.77
Gjb6LSXLateral septal complex12.75
6.51
Gjb6MBMidbrain26.94
20.73
Gjb6MYMedulla38.8
27.32
Gjb6OLFOlfactory bulb15.56
8.75
Gjb6PPons24.48
17.74
Gjb6PALPallidum24.75
14.52
Gjb6RHPRetrohippocampal region26.56
14.96
Gjb6sAMYStriatum-like amygdalar nuclei15.4
8.84
Gjb6STRStriatum6.34
3.28
Gjb6STRdStriatum dorsal region3.65
1.83
Gjb6STRvStriatum ventral region7.41
3.36
Gjb6THThalamus30.3
20.3
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