Property Summary

NCBI Gene PubMed Count 252
PubMed Score 496.74
PubTator Score 636.77

Knowledge Summary

Patent (18,169)

TINX Plot

  Disease Sources (8)

Disease Target Count P-value
non-small cell lung cancer 2798 9.45825514460027E-20
lung carcinoma 2844 1.22767330106014E-16
posterior fossa group A ependymoma 1511 3.02037754430885E-11
lung adenocarcinoma 2714 4.7145433100577E-10
sonic hedgehog group medulloblastoma 1482 9.27161715404207E-10
atypical teratoid / rhabdoid tumor 4369 6.81754609097181E-7
medulloblastoma, large-cell 6234 7.76812424273271E-7
lung cancer 4473 4.53052242479158E-5
pituitary cancer 1972 0.00126503275442898
pediatric high grade glioma 2712 0.00229738672409246
glioblastoma 5572 0.00245206400195678
severe Alzheimer's disease 49 0.0328484704726226
Parkinson's disease 364 0.0464955464934209
Gaucher disease type 3 76 0.0465652862962613
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Familial hemiplegic migraine 6 0.0 5.0

Expression

  Differential Expression (14)

Synonym

Accession P35498 E9PG49 Q16172 Q585T7 Q8IUJ6 Q96LA3 Q9C008
Symbols FEB3
FHM3
NAC1
SCN1
SMEI
EIEE6
FEB3A
HBSCI
GEFSP2
Nav1.1

Gene

  Ortholog (11)

Species Source
Chimp OMA EggNOG
Macaque OMA Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Dog OMA Inparanoid
Horse OMA Inparanoid
Cow OMA Inparanoid
Opossum OMA EggNOG Inparanoid
Chicken EggNOG Inparanoid
Xenopus OMA EggNOG
Zebrafish OMA EggNOG Inparanoid

Gene RIF (239)

PMID Text
27045673 No causative variants were identified in any of non-DS epileptic patients in our cohort, suggesting a minor, but not irrelevant role for SCN1A in patients with other types of childhood epilepsy.
26990884 Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.
26731440 Mutations in SCN1A, the gene that encodes the alpha subunit of voltage-gated sodium channel Nav1.1, can cause epilepsies.
26637798 This study provide the evidence SCN1A mutation releate to Autism Spectrum Disorder.
26614543 Molecular genetic testing detected a de novo SCN1A gene deletion in heterozygous form, and revealed SCN1A gene associated monogenic epileptic syndrome being in the genetic background of therapy-resistant seizures.
26555147 The SCN1A IVS5-91G>A SNP is associated with susceptibility to epilepsy. SNPs in EPHX1 gene are influencing CBZ metabolism and disposition
26311622 Mutations in SCN1A and SCN2A are a predisposing factor of acute encephalopathy with biphasic seizures and late reduced diffusion
26252084 The parental origins of 22 mutations of SCN1A were associated with Dravet syndrome.
26183863 Retrospective study to survey the efficacy of antiepileptic drugs in Dravet syndrome with different SCN1A genotypes
26182346 Human Nav1.6 channels generate larger resurgent currents than human Nav1.1 channels, but the SCN4B-derived Navbeta4 peptide does not protect either isoform from use-dependent reduction.
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AA Sequence

MEQTVLVPPGPDSFNFFTRESLAAIERRIAEEKAKNPKPDKKDDDENGPKPNSDLEAGKNLPFIYGDIPP      1 - 70
EMVSEPLEDLDPYYINKKTFIVLNKGKAIFRFSATSALYILTPFNPLRKIAIKILVHSLFSMLIMCTILT     71 - 140
NCVFMTMSNPPDWTKNVEYTFTGIYTFESLIKIIARGFCLEDFTFLRDPWNWLDFTVITFAYVTEFVDLG    141 - 210
NVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCIQW    211 - 280
PPTNASLEEHSIEKNITVNYNGTLINETVFEFDWKSYIQDSRYHYFLEGFLDALLCGNSSDAGQCPEGYM    281 - 350
CVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLILA    351 - 420
VVAMAYEEQNQATLEEAEQKEAEFQQMIEQLKKQQEAAQQAATATASEHSREPSAAGRLSDSSSEASKLS    421 - 490
SKSAKERRNRRKKRKQKEQSGGEEKDEDEFQKSESEDSIRRKGFRFSIEGNRLTYEKRYSSPHQSLLSIR    491 - 560
GSLFSPRRNSRTSLFSFRGRAKDVGSENDFADDEHSTFEDNESRRDSLFVPRRHGERRNSNLSQTSRSSR    561 - 630
MLAVFPANGKMHSTVDCNGVVSLVGGPSVPTSPVGQLLPEVIIDKPATDDNGTTTETEMRKRRSSSFHVS    631 - 700
MDFLEDPSQRQRAMSIASILTNTVEELEESRQKCPPCWYKFSNIFLIWDCSPYWLKVKHVVNLVVMDPFV    701 - 770
DLAITICIVLNTLFMAMEHYPMTDHFNNVLTVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIV    771 - 840
TLSLVELGLANVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQ    841 - 910
LFGKSYKDCVCKIASDCQLPRWHMNDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLTVFMMVMVIGN    911 - 980
LVVLNLFLALLLSSFSADNLAATDDDNEMNNLQIAVDRMHKGVAYVKRKIYEFIQQSFIRKQKILDEIKP    981 - 1050
LDDLNNKKDSCMSNHTAEIGKDLDYLKDVNGTTSGIGTGSSVEKYIIDESDYMSFINNPSLTVTVPIAVG   1051 - 1120
ESDFENLNTEDFSSESDLEESKEKLNESSSSSEGSTVDIGAPVEEQPVVEPEETLEPEACFTEGCVQRFK   1121 - 1190
CCQINVEEGRGKQWWNLRRTCFRIVEHNWFETFIVFMILLSSGALAFEDIYIDQRKTIKTMLEYADKVFT   1191 - 1260
YIFILEMLLKWVAYGYQTYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRALRPLRALSRF   1261 - 1330
EGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCINTTTGDRFDIEDVNNHTDCLKLI   1331 - 1400
ERNETARWKNVKVNFDNVGFGYLSLLQVATFKGWMDIMYAAVDSRNVELQPKYEESLYMYLYFVIFIIFG   1401 - 1470
SFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPGNKFQGMVFDFVTR   1471 - 1540
QVFDISIMILICLNMVTMMVETDDQSEYVTTILSRINLVFIVLFTGECVLKLISLRHYYFTIGWNIFDFV   1541 - 1610
VVILSIVGMFLAELIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLV   1611 - 1680
MFIYAIFGMSNFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSKPPDCDPNKVNPGS   1681 - 1750
SVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPLSEDDFEMFYEVWEKFDPDAT   1751 - 1820
QFMEFEKLSQFAAALEPPLNLPQPNKLQLIAMDLPMVSGDRIHCLDILFAFTKRVLGESGEMDALRIQME   1821 - 1890
ERFMASNPSKVSYQPITTTLKRKQEEVSAVIIQRAYRRHLLKRTVKQASFTYNKNKIKGGANLLIKEDMI   1891 - 1960
IDRINENSITEKTDLTMSTAACPPSYDRVTKPIVEKHEQEGKDEKAKGK                        1961 - 2009
//

Text Mined References (271)

PMID Year Title
27207958 2016 Variants of Transient Receptor Potential Melastatin Member 4 in Childhood Atrioventricular Block.
27045673 2016 Novel SCN1A variants in Dravet syndrome and evaluating a wide approach of patient selection.
26990884 2016 Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.
26731440 2016 CRISPR/Cas9 facilitates investigation of neural circuit disease using human iPSCs: mechanism of epilepsy caused by an SCN1A loss-of-function mutation.
26637798 2015 Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.
26614543 2015 [De novo SCN1A gene deletion in therapy-resistant Dravet syndrome].
26555147 2015 Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients.
26311622 2015 Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures.
26252084 2015 [Analysis of parental origin of de novo SCN1A mutations in Dravet syndrome].
26183863 2016 Efficacy of antiepileptic drugs for the treatment of Dravet syndrome with different genotypes.
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