Property Summary

Ligand Count 51
NCBI Gene PubMed Count 277
PubMed Score 554.61
PubTator Score 636.77

Knowledge Summary

Patent (18,169)

TINX Plot

  Disease (8)

Disease Target Count
Hemiplegia 25
Abnormal behavior 52
Absence Epilepsy 22
Aggressive behavior 75
Aggressive reaction 75
Atypical absence seizure 5
Autism Spectrum Disorders 75
Autistic behavior 20
Blind Vision 111
Blindness, Cortical 24
Blindness, Legal 110
Brainstem abnormalities 7
Cerebellar Ataxia 304
Cerebral atrophy 178
Childhood onset 38
Cognitive delay 608
Complex partial seizure with impairment of consciousness 9
Complex partial seizures 9
Cortical visual impairment 24
Degenerative brain disorder 100
Dull intelligence 645
EEG with focal sharp slow waves 5
Electroencephalogram abnormal 101
Encephalopathies 43
Epileptic drop attack 11
Epileptic encephalopathy 26
Febrile Convulsions 14
Focal Clonic Seizures 9
Generalized myoclonic seizures 30
Global developmental delay 608
Hemiclonic seizures 2
Hemiparesis 34
Hemiplegia and hemiparesis 38
Highly variable severity 157
Hyperactive behavior 91
Hypertonic seizures 8
Hypotonic seizures 11
Infantile Severe Myoclonic Epilepsy 8
Infantile onset 238
Low intelligence 645
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 6 4
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental deterioration 32
Migraine with Aura 6
Motor delay 147
Muscle hypotonia 571
Myoclonic Epilepsies, Progressive 44
Myoclonus 74
No development of motor milestones 147
Nystagmus 317
Obtundation status 7
Personality Disorders 7
Photodysphoria 121
Photophobia 121
Photosensitivity of skin 51
Physical aggression 76
Poor school performance 645
Postnatal microcephaly 24
Seizures 596
Supratentorial atrophy 94
Tonic - clonic seizures 44
Tremor 113
Variable expressivity 157
cocaine use 11
Disease Target Count Z-score Confidence
Migraine 83 5.162 2.6
Autistic Disorder 364 3.198 1.6

Expression

  Differential Expression (14)

Disease log2 FC p
adult high grade glioma -1.500 2.0e-02
atypical teratoid / rhabdoid tumor -4.400 6.8e-07
ependymoma -1.100 2.9e-08
Gaucher disease type 3 -2.500 4.7e-02
glioblastoma -3.400 2.5e-03
group 3 medulloblastoma -1.600 1.3e-03
lung adenocarcinoma -1.500 4.7e-10
lung cancer -2.800 4.5e-05
lung carcinoma -2.100 1.2e-16
medulloblastoma, large-cell -5.400 7.8e-07
non-small cell lung cancer -1.270 9.5e-20
Parkinson's disease -1.200 4.6e-02
pituitary cancer 2.500 1.3e-03
severe Alzheimer's disease -1.227 3.3e-02

Gene RIF (263)

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 (303)

PMID Year Title