Property Summary

NCBI Gene PubMed Count 10
PubMed Score 3.89
PubTator Score 4.47

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
posterior fossa group A ependymoma -2.500 0.000
glioblastoma -1.900 0.002
atypical teratoid / rhabdoid tumor -2.800 0.000
medulloblastoma, large-cell -2.000 0.003
interstitial cystitis -1.300 0.000
adult high grade glioma -1.600 0.003
group 3 medulloblastoma 1.600 0.023
lung carcinoma 1.200 0.000
psoriasis -1.500 0.006

Gene RIF (5)

PMID Text
20451256 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20346443 Data suggest that rare variants in CNTNAP5 may confer autism spectrum disorder (ASD) susceptibility. Genomic disruption of both DOCK4 and CNTNAP5 genes may have an additive effect and may result in a more severe ASD phenotype.
20346443 Observational study of gene-disease association. (HuGE Navigator)
19721433 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)

AA Sequence

MDSLPRLTSVLTLLFSGLWHLGLTATNYNCDDPLASLLSPMAFSSSSDLTGTHSPAQLNWRVGTGGWSPA      1 - 70
DSNAQQWLQMDLGNRVEITAVATQGRYGSSDWVTSYSLMFSDTGRNWKQYKQEDSIWTFAGNMNADSVVH     71 - 140
HKLLHSVRARFVRFVPLEWNPSGKIGMRVEVYGCSYKSDVADFDGRSSLLYRFNQKLMSTLKDVISLKFK    141 - 210
SMQGDGVLFHGEGQRGDHITLELQKGRLALHLNLGDSKARLSSSLPSATLGSLLDDQHWHSVLIERVGKQ    211 - 280
VNFTVDKHTQHFRTKGETDALDIDYELSFGGIPVPGKPGTFLKKNFHGCIENLYYNGVNIIDLAKRRKHQ    281 - 350
IYTGNVTFSCSEPQIVPITFVNSSGSYLLLPGTPQIDGLSVSFQFRTWNKDGLLLSTELSEGSGTLLLSL    351 - 420
EGGILRLVIQKMTERVAEILTGSNLNDGLWHSVSINARRNRITLTLDDEAAPPAPDSTWVQIYSGNSYYF    421 - 490
GGCPDNLTDSQCLNPIKAFQGCMRLIFIDNQPKDLISVQQGSLGNFSDLHIDLCSIKDRCLPNYCEHGGS    491 - 560
CSQSWTTFYCNCSDTSYTGATCHNSIYEQSCEVYRHQGNTAGFFYIDSDGSGPLGPLQVYCNITEDKIWT    561 - 630
SVQHNNTELTRVRGANPEKPYAMALDYGGSMEQLEAVIDGSEHCEQEVAYHCRRSRLLNTPDGTPFTWWI    631 - 700
GRSNERHPYWGGSPPGVQQCECGLDESCLDIQHFCNCDADKDEWTNDTGFLSFKDHLPVTQIVITDTDRS    701 - 770
NSEAAWRIGPLRCYGDRRFWNAVSFYTEASYLHFPTFHAEFSADISFFFKTTALSGVFLENLGIKDFIRL    771 - 840
EISSPSEITFAIDVGNGPVELVVQSPSLLNDNQWHYVRAERNLKETSLQVDNLPRSTRETSEEGHFRLQL    841 - 910
NSQLFVGGTSSRQKGFLGCIRSLHLNGQKMDLEERAKVTSGVRPGCPGHCSSYGSICHNGGKCVEKHNGY    911 - 980
LCDCTNSPYEGPFCKKEVSAVFEAGTSVTYMFQEPYPVTKNISLSSSAIYTDSAPSKENIALSFVTTQAP    981 - 1050
SLLLFINSSSQDFVVVLLCKNGSLQVRYHLNKEETHVFTIDADNFANRRMHHLKINREGRELTIQMDQQL   1051 - 1120
RLSYNFSPEVEFRVIRSLTLGKVTENLGLDSEVAKANAMGFAGCMSSVQYNHIAPLKAALRHATVAPVTV   1121 - 1190
HGTLTESSCGFMVDSDVNAVTTVHSSSDPFGKTDEREPLTNAVRSDSAVIGGVIAVVIFIIFCIIGIMTR   1191 - 1260
FLYQHKQSHRTSQMKEKEYPENLDSSFRNEIDLQNTVSECKREYFI                           1261 - 1306
//

Text Mined References (11)

PMID Year Title
23382691 2013 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
22885689 2012 Genome-wide association study of multiplex schizophrenia pedigrees.
20451256 2010 A genome-wide association study of bipolar disorder in Norwegian individuals, followed by replication in Icelandic sample.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20346443 2010 Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia.
20339536 2010 Genome-wide association of lipid-lowering response to statins in combined study populations.
19721433 2011 Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics.
17903302 2007 Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.
16845472 2006 New members of the neurexin superfamily: multiple rodent homologues of the human CASPR5 gene.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
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