Property Summary

NCBI Gene PubMed Count 51
PubMed Score 102.75
PubTator Score 85.31

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (7)

Disease Target Count P-value
lung carcinoma 2844 4.72807439344619E-37
non-small cell lung cancer 2798 3.36189878416056E-14
pilocytic astrocytoma 3086 6.34038294968664E-9
juvenile dermatomyositis 1189 2.22371528550186E-7
primary Sjogren syndrome 789 9.33354056645907E-6
ulcerative colitis 2087 2.46200745120449E-5
Breast cancer 3099 2.70687953769632E-5
osteosarcoma 7933 3.99945612932541E-5
ovarian cancer 8492 2.99270780190841E-4
posterior fossa group A ependymoma 1511 0.0021037414504239
medulloblastoma, large-cell 6234 0.00229916699199586
invasive ductal carcinoma 2950 0.00405082748288657
pituitary cancer 1972 0.00621806731007513
adult high grade glioma 2148 0.00723343980575347
glioblastoma 5572 0.00751257744547171
interstitial cystitis 2299 0.00928269810222152
subependymal giant cell astrocytoma 2287 0.0158405437174241
Rheumatoid Arthritis 1171 0.0357881117263813
urothelial carcinoma 318 0.0416171708473812
spina bifida 1064 0.0420026951383252
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Intellectual disability 573 0.0 4.0

Expression

  Differential Expression (20)

Disease log2 FC p
Rheumatoid Arthritis 1.200 0.036
urothelial carcinoma -1.700 0.042
osteosarcoma -3.589 0.000
glioblastoma 1.200 0.008
medulloblastoma, large-cell 1.100 0.002
juvenile dermatomyositis 1.554 0.000
non-small cell lung cancer -1.729 0.000
interstitial cystitis 1.200 0.009
adult high grade glioma 1.600 0.007
pilocytic astrocytoma 2.300 0.000
posterior fossa group A ependymoma 1.100 0.002
primary Sjogren syndrome 2.500 0.000
subependymal giant cell astrocytoma 2.720 0.016
invasive ductal carcinoma 1.417 0.004
lung carcinoma -3.200 0.000
spina bifida 1.075 0.042
Breast cancer -1.300 0.000
ulcerative colitis 2.800 0.000
ovarian cancer -1.700 0.000
pituitary cancer 1.400 0.006

Gene RIF (36)

PMID Text
26659092 mutations in Chinese patients with hyper-IgE syndrome
26235511 Letter/Case Report: DOCK8 homozygous mutation leading to primary immune deficiency.
25724123 DOCK8 deficiency is likely in patients with severe viral infections, allergies, and/or low IgM levels.
25428919 CD147 has a role in promoting Src-dependent activation of Rac1 signaling through STAT3/DOCK8 during the motility of hepatocellular carcinoma cells
25422492 DOCK8-regulated shape integrity of lymphocytes prevents cytothripsis and promotes antiviral immunity in the skin.
25332498 This is a case of systemic lupus erythematosus with hyper-immunoglobulin E syndrome documented as DOCK8 deficiency.
25220305 Mutations of DOCK8 in three children, two of whom developed sclerosing cholangitis, are reported.
25218284 Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells
24898675 Hyper-IgE syndromes and atopic dermatitis patients showed different sensitization pattern of serum IgE corresponding to the allergic disease manifestations and Th-cell subset data, suggesting a key role of DOCK8 in the development of food allergy
24698323 Biallelic mutations in the DOCK8 gene cause autosomal-recessive hyper-IgE syndrome.
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AA Sequence

MATLPSAERRAFALKINRYSSAEIRKQFTLPPNLGQYHRQSISTSGFPSLQLPQFYDPVEPVDFEGLLMT      1 - 70
HLNSLDVQLAQELGDFTDDDLDVVFTPKECRTLQPSLPEEGVELDPHVRDCVQTYIREWLIVNRKNQGSP     71 - 140
EICGFKKTGSRKDFHKTLPKQTFESETLECSEPAAQAGPRHLNVLCDVSGKGPVTACDFDLRSLQPDKRL    141 - 210
ENLLQQVSAEDFEKQNEEARRTNRQAELFALYPSVDEEDAVEIRPVPECPKEHLGNRILVKLLTLKFEIE    211 - 280
IEPLFASIALYDVKERKKISENFHCDLNSDQFKGFLRAHTPSVAASSQARSAVFSVTYPSSDIYLVVKIE    281 - 350
KVLQQGEIGDCAEPYTVIKESDGGKSKEKIEKLKLQAESFCQRLGKYRMPFAWAPISLSSFFNVSTLERE    351 - 420
VTDVDSVVGRSSVGERRTLAQSRRLSERALSLEENGVGSNFKTSTLSVSSFFKQEGDRLSDEDLFKFLAD    421 - 490
YKRSSSLQRRVKSIPGLLRLEISTAPEIINCCLTPEMLPVKPFPENRTRPHKEILEFPTREVYVPHTVYR    491 - 560
NLLYVYPQRLNFVNKLASARNITIKIQFMCGEDASNAMPVIFGKSSGPEFLQEVYTAVTYHNKSPDFYEE    561 - 630
VKIKLPAKLTVNHHLLFTFYHISCQQKQGASVETLLGYSWLPILLNERLQTGSYCLPVALEKLPPNYSMH    631 - 700
SAEKVPLQNPPIKWAEGHKGVFNIEVQAVSSVHTQDNHLEKFFTLCHSLESQVTFPIRVLDQKISEMALE    701 - 770
HELKLSIICLNSSRLEPLVLFLHLVLDKLFQLSVQPMVIAGQTANFSQFAFESVVAIANSLHNSKDLSKD    771 - 840
QHGRNCLLASYVHYVFRLPEVQRDVPKSGAPTALLDPRSYHTYGRTSAAAVSSKLLQARVMSSSNPDLAG    841 - 910
THSAADEEVKNIMSSKIADRNCSRMSYYCSGSSDAPSSPAAPRPASKKHFHEELALQMVVSTGMVRETVF    911 - 980
KYAWFFFELLVKSMAQHVHNMDKRDSFRRTRFSDRFMDDITTIVNVVTSEIAALLVKPQKENEQAEKMNI    981 - 1050
SLAFFLYDLLSLMDRGFVFNLIRHYCSQLSAKLSNLPTLISMRLEFLRILCSHEHYLNLNLFFMNADTAP   1051 - 1120
TSPCPSISSQNSSSCSSFQDQKIASMFDLTSEYRQQHFLTGLLFTELAAALDAEGEGISKVQRKAVSAIH   1121 - 1190
SLLSSHDLDPRCVKPEVKVKIAALYLPLVGIILDALPQLCDFTVADTRRYRTSGSDEEQEGAGAINQNVA   1191 - 1260
LAIAGNNFNLKTSGIVLSSLPYKQYNMLNADTTRNLMICFLWIMKNADQSLIRKWIADLPSTQLNRILDL   1261 - 1330
LFICVLCFEYKGKQSSDKVSTQVLQKSRDVKARLEEALLRGEGARGEMMRRRAPGNDRFPGLNENLRWKK   1331 - 1400
EQTHWRQANEKLDKTKAELDQEALISGNLATEAHLIILDMQENIIQASSALDCKDSLLGGVLRVLVNSLN   1401 - 1470
CDQSTTYLTHCFATLRALIAKFGDLLFEEEVEQCFDLCHQVLHHCSSSMDVTRSQACATLYLLMRFSFGA   1471 - 1540
TSNFARVKMQVTMSLASLVGRAPDFNEEHLRRSLRTILAYSEEDTAMQMTPFPTQVEELLCNLNSILYDT   1541 - 1610
VKMREFQEDPEMLMDLMYRIAKSYQASPDLRLTWLQNMAEKHTKKKCYTEAAMCLVHAAALVAEYLSMLE   1611 - 1680
DHSYLPVGSVSFQNISSNVLEESVVSEDTLSPDEDGVCAGQYFTESGLVGLLEQAAELFSTGGLYETVNE   1681 - 1750
VYKLVIPILEAHREFRKLTLTHSKLQRAFDSIVNKDHKRMFGTYFRVGFFGSKFGDLDEQEFVYKEPAIT   1751 - 1820
KLPEISHRLEAFYGQCFGAEFVEVIKDSTPVDKTKLDPNKAYIQITFVEPYFDEYEMKDRVTYFEKNFNL   1821 - 1890
RRFMYTTPFTLEGRPRGELHEQYRRNTVLTTMHAFPYIKTRISVIQKEEFVLTPIEVAIEDMKKKTLQLA   1891 - 1960
VAINQEPPDAKMLQMVLQGSVGATVNQGPLEVAQVFLAEIPADPKLYRHHNKLRLCFKEFIMRCGEAVEK   1961 - 2030
NKRLITADQREYQQELKKNYNKLKENLRPMIERKIPELYKPIFRVESQKRDSFHRSSFRKCETQLSQGS    2031 - 2099
//

Text Mined References (59)

PMID Year Title
26659092 2016 Novel DOCK8 gene mutations lead to absence of protein expression in patients with hyper-IgE syndrome.
26235511 2016 Clinically focused exome sequencing identifies an homozygous mutation that confers DOCK8 deficiency.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25724123 2015 The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.
25428919 2015 CD147 promotes Src-dependent activation of Rac1 signaling through STAT3/DOCK8 during the motility of hepatocellular carcinoma cells.
25422492 2014 DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity.
25416956 2014 A proteome-scale map of the human interactome network.
25332498 2014 Ten-year follow-up of a DOCK8-deficient child with features of systemic lupus erythematosus.
25220305 2014 Dedicator of cytokinesis 8 deficiency: a predisposition to sclerosing cholangitis.
25218284 2014 Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells.
More...