Property Summary

NCBI Gene PubMed Count 10
PubMed Score 5.66
PubTator Score 2.77

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Disease Target Count
Peripheral Neuropathy 303
Disease Target Count P-value
ependymoma 2514 2.61607957634065E-34
atypical teratoid / rhabdoid tumor 4369 5.32193838716919E-15
pilocytic astrocytoma 3086 9.09651810015655E-15
adult high grade glioma 2148 3.12677620459358E-8
medulloblastoma, large-cell 6234 1.58134490005937E-6
lung carcinoma 2844 1.92126339069178E-6
primitive neuroectodermal tumor 3031 4.72257282980331E-6
medulloblastoma 1524 3.03635704063844E-5
glioblastoma 5572 4.57400103361655E-5
pituitary cancer 1972 1.37092176626509E-4
Pick disease 1893 1.77114226352425E-4
astrocytic glioma 2241 0.00577167920001113
oligodendroglioma 2849 0.00912101612510811
subependymal giant cell astrocytoma 2287 0.00977113729694489
Alzheimer's disease 644 0.0272877625485446
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Parkinson's disease 364 0.0 2.0

Expression

  Differential Expression (15)

Disease log2 FC p
astrocytic glioma -3.400 0.006
ependymoma -6.100 0.000
oligodendroglioma -3.200 0.009
glioblastoma -5.400 0.000
medulloblastoma -3.600 0.000
atypical teratoid / rhabdoid tumor -6.200 0.000
medulloblastoma, large-cell -5.500 0.000
primitive neuroectodermal tumor -5.800 0.000
adult high grade glioma -5.300 0.000
pilocytic astrocytoma -5.900 0.000
subependymal giant cell astrocytoma -4.849 0.010
lung carcinoma 1.700 0.000
Alzheimer's disease -1.300 0.027
Pick disease -1.500 0.000
pituitary cancer 3.200 0.000

Synonym

Accession Q8NB66 Q0P613 Q8ND48 Q96NP3
Symbols

Gene

  Ortholog (7)

Species Source
Chimp OMA EggNOG
Macaque EggNOG Inparanoid
Mouse OMA Inparanoid
Rat OMA Inparanoid
Dog OMA Inparanoid
Cow OMA Inparanoid
Xenopus OMA Inparanoid

Gene RIF (3)

PMID Text
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19240061 Observational study of gene-disease association. (HuGE Navigator)
18519826 Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)

AA Sequence

MVANFFKSLILPYIHKLCKGMFTKKLGNTNKNKEYRQQKKDQDFPTAGQTKSPKFSYTFKSTVKKIAKCS      1 - 70
STHNLSTEEDEASKEFSLSPTFSYRVAIANGLQKNAKVTNSDNEDLLQELSSIESSYSESLNELRSSTEN     71 - 140
QAQSTHTMPVRRNRKSSSSLAPSEGSSDGERTLHGLKLGALRKLRKWKKSQECVSSDSELSTMKKSWGIR    141 - 210
SKSLDRTVRNPKTNALEPGFSSSGCISQTHDVMEMIFKELQGISQIETELSELRGHVNALKHSIDEISSS    211 - 280
VEVVQSEIEQLRTGFVQSRRETRDIHDYIKHLGHMGSKASLRFLNVTEERFEYVESVVYQILIDKMGFSD    281 - 350
APNAIKIEFAQRIGHQRDCPNAKPRPILVYFETPQQRDSVLKKSYKLKGTGIGISTDILTHDIRERKEKG    351 - 420
IPSSQTYESMAIKLSTPEPKIKKNNWQSPDDSDEDLESDLNRNSYAVLSKSELLTKGSTSKPSSKSHSAR    421 - 490
SKNKTANSSRISNKSDYDKISSQLPESDILEKQTTTHYADATPLWHSQSDFFTAKLSRSESDFSKLCQSY    491 - 560
SEDFSENQFFTRTNGSSLLSSSDRELWQRKQEGTATLYDSPKDQHLNGGVQGIQGQTETENTETVDSGMS    561 - 630
NGMVCASGDRSHYSDSQLSLHEDLSPWKEWNQGADLGLDSSTQEGFDYETNSLFDQQLDVYNKDLEYLGK    631 - 700
CHSDLQDDSESYDLTQDDNSSPCPGLDNEPQGQWVGQYDSYQGANSNELYQNQNQLSMMYRSQSELQSDD    701 - 770
SEDAPPKSWHSRLSIDLSDKTFSFPKFGSTLQRAKSALEVVWNKSTQSLSGYEDSGSSLMGRFRTLSQST    771 - 840
ANESSTTLDSDVYTEPYYYKAEDEEDYTEPVADNETDYVEVMEQVLAKLENRTSITETDEQMQAYDHLSY    841 - 910
ETPYETPQDEGYDGPADDMVSEEGLEPLNETSAEMEIREDENQNIPEQPVEITKPKRIRPSFKEAALRAY    911 - 980
KKQMAELEEKILAGDSSSVDEKARIVSGNDLDASKFSALQVCGGAGGGLYGIDSMPDLRRKKTLPIVRDV    981 - 1050
AMTLAARKSGLSLAMVIRTSLNNEELKMHVFKKTLQALIYPMSSTIPHNFEVWTATTPTYCYECEGLLWG   1051 - 1120
IARQGMKCLECGVKCHEKCQDLLNADCLQRAAEKSSKHGAEDKTQTIITAMKERMKIREKNRPEVFEVIQ   1121 - 1190
EMFQISKEDFVQFTKAAKQSVLDGTSKWSAKITITVVSAQGLQAKDKTGSSDPYVTVQVGKNKRRTKTIF   1191 - 1260
GNLNPVWDEKFYFECHNSTDRIKVRVWDEDDDIKSRVKQHFKKESDDFLGQTIVEVRTLSGEMDVWYNLE   1261 - 1330
KRTDKSAVSGAIRLKINVEIKGEEKVAPYHIQYTCLHENLFHYLTEVKSNGGVKIPEVKGDEAWKVFFDD   1331 - 1400
ASQEIVDEFAMRYGIESIYQAMTHFSCLSSKYMCPGVPAVMSTLLANINAFYAHTTVSTNIQVSASDRFA   1401 - 1470
ATNFGREKFIKLLDQLHNSLRIDLSKYRENFPASNTERLQDLKSTVDLLTSITFFRMKVLELQSPPKASM   1471 - 1540
VVKDCVRACLDSTYKYIFDNCHELYSQLTDPSKKQDIPREDQGPTTKNLDFWPQLITLMVTIIDEDKTAY   1541 - 1610
TPVLNQFPQELNMGKISAEIMWTLFALDMKYALEEHENQRLCKSTDYMNLHFKVKWFYNEYVRELPAFKD   1611 - 1680
AVPEYSLWFEPFVMQWLDENEDVSMEFLHGALGRDKKDGFQQTSEHALFSCSVVDVFAQLNQSFEIIKKL   1681 - 1750
ECPNPEALSHLMRRFAKTINKVLLQYAAIVSSDFSSHCDKENVPCILMNNIQQLRVQLEKMFESMGGKEL   1751 - 1820
DSEASTILKELQVKLSGVLDELSVTYGESFQVIIEECIKQMSFELNQMRANGNTTSNKNSAAMDAEIVLR   1821 - 1890
SLMDFLDKTLSLSAKICEKTVLKRVLKELWKLVLNKIEKQIVLPPLTDQTGPQMIFIAAKDLGQLSKLKE   1891 - 1960
HMIREDARGLTPRQCAIMEVVLATIKQYFHAGGNGLKKNFLEKSPDLQSLRYALSLYTQTTDALIKKFID   1961 - 2030
TQTSQSRSSKDAVGQISVHVDITATPGTGDHKVTVKVIAINDLNWQTTAMFRPFVEVCILGPNLGDKKRK   2031 - 2100
QGTKTKSNTWSPKYNETFQFILGKENRPGAYELHLSVKDYCFAREDRIIGMTVIQLQNIAEKGSYGAWYP   2101 - 2170
LLKNISMDETGLTILRILSQRTSDDVAKEFVRLKSETRSTEESA                             2171 - 2214
//

Text Mined References (14)

PMID Year Title
23599027 2013 Genome-wide association study of age at menarche in African-American women.
22542470 2012 Genome-wide association study of antibody response to smallpox vaccine.
22365152 2012 De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19734545 2009 A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
19240061 2009 Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
18519826 2008 Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17903293 2007 Genome-wide association with select biomarker traits in the Framingham Heart Study.
16572171 2006 Analysis of the DNA sequence and duplication history of human chromosome 15.
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