Property Summary

NCBI Gene PubMed Count 21
PubMed Score 6.91
PubTator Score 8.45

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (15)

Disease log2 FC p
oligodendroglioma 1.800 0.007
psoriasis -1.700 0.000
glioblastoma -2.000 0.019
osteosarcoma 1.299 0.000
posterior fossa group B ependymoma -2.900 0.000
medulloblastoma 1.600 0.000
atypical teratoid / rhabdoid tumor -2.700 0.000
medulloblastoma, large-cell 1.200 0.000
primitive neuroectodermal tumor -1.300 0.012
lung cancer 5.800 0.000
adult high grade glioma -1.600 0.003
subependymal giant cell astrocytoma -2.763 0.013
lung carcinoma 3.800 0.000
Pick disease -1.700 0.001
pituitary cancer 3.800 0.000

Gene RIF (11)

PMID Text
26204995 SEZ6L, HISPPD1, FEZF1, SAMD11 gene variants may be associated with autism spectrum disorder.
22920719 This is the first demonstration that genetic variants in the SEZ6L gene are associated with bipolar disorder Iin female patients and provides additional compelling evidence for genetic variation at 22q11-13 that influences BD-I risk.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20424129 the addition of SEZ6L improved the performance of the Liverpool Lung Project risk model.
20424129 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19955471 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19336575 Observational study of gene-disease association. (HuGE Navigator)
17804757 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MPAARPPAAGLRGISLFLALLLGSPAAALERDALPEGDASPLGPYLLPSGAPERGSPGKEHPEERVVTAP      1 - 70
PSSSQSAEVLGELVLDGTAPSAHHDIPALSPLLPEEARPKHALPPKKKLPSLKQVNSARKQLRPKATSAA     71 - 140
TVQRAGSQPASQGLDLLSSSTEKPGPPGDPDPIVASEEASEVPLWLDRKESAVPTTPAPLQISPFTSQPY    141 - 210
VAHTLPQRPEPGEPGPDMAQEAPQEDTSPMALMDKGENELTGSASEESQETTTSTIITTTVITTEQAPAL    211 - 280
CSVSFSNPEGYIDSSDYPLLPLNNFLECTYNVTVYTGYGVELQVKSVNLSDGELLSIRGVDGPTLTVLAN    281 - 350
QTLLVEGQVIRSPTNTISVYFRTFQDDGLGTFQLHYQAFMLSCNFPRRPDSGDVTVMDLHSGGVAHFHCH    351 - 420
LGYELQGAKMLTCINASKPHWSSQEPICSAPCGGAVHNATIGRVLSPSYPENTNGSQFCIWTIEAPEGQK    421 - 490
LHLHFERLLLHDKDRMTVHSGQTNKSALLYDSLQTESVPFEGLLSEGNTIRIEFTSDQARAASTFNIRFE    491 - 560
AFEKGHCYEPYIQNGNFTTSDPTYNIGTIVEFTCDPGHSLEQGPAIIECINVRDPYWNDTEPLCRAMCGG    561 - 630
ELSAVAGVVLSPNWPEPYVEGEDCIWKIHVGEEKRIFLDIQFLNLSNSDILTIYDGDEVMPHILGQYLGN    631 - 700
SGPQKLYSSTPDLTIQFHSDPAGLIFGKGQGFIMNYIEVSRNDSCSDLPEIQNGWKTTSHTELVRGARIT    701 - 770
YQCDPGYDIVGSDTLTCQWDLSWSSDPPFCEKIMYCTDPGEVDHSTRLISDPVLLVGTTIQYTCNPGFVL    771 - 840
EGSSLLTCYSRETGTPIWTSRLPHCVSEESLACDNPGLPENGYQILYKRLYLPGESLTFMCYEGFELMGE    841 - 910
VTIRCILGQPSHWNGPLPVCKVNQDSFEHALEVAEAAAETSLEGGNMALAIFIPVLIISLLLGGAYIYIT    911 - 980
RCRYYSNLRLPLMYSHPYSQITVETEFDNPIYETGETREYEVSI                              981 - 1024
//

Text Mined References (22)

PMID Year Title
26204995 2015 Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes.
23234360 2013 LC-MS/MS characterization of O-glycosylation sites and glycan structures of human cerebrospinal fluid glycoproteins.
22920719 2013 Polymorphisms in seizure 6-like gene are associated with bipolar disorder I: evidence of gene × gender interaction.
22837378 2012 Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
21901158 2011 Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20424129 2010 Incorporation of a genetic factor into an epidemiologic model for prediction of individual risk of lung cancer: the Liverpool Lung Project.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19955471 2010 Genetic variants identified in a European genome-wide association study that were found to predict incident coronary heart disease in the atherosclerosis risk in communities study.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
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