Property Summary

NCBI Gene PubMed Count 39
PubMed Score 308.43
PubTator Score 31.36

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
pontocerebellar hypoplasia type 3 1 0.0 0.0
Disease Target Count
Major Depressive Disorder 301
Atrophy of cerebellum 103
Autosomal recessive predisposition 1442
Axial hypotonia 46
Bipolar Disorder 666
Brachycephaly 88
Broad cranium shape 88
Byzanthine arch palate 194
Cerebellar Hypoplasia 61
Cerebellar degeneration 103
Cerebral atrophy 178
Chubby cheeks 50
Cognitive delay 608
Concave bridge of nose 195
Congenital deafness 185
Deafness 198
Degenerative brain disorder 100
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Depressive disorder 409
Downturned corners of mouth 48
Epilepsy 792
Exophthalmos 112
Full cheeks 50
Global developmental delay 608
Hearing Loss, Partial 185
High, narrow palate 32
Hyperplasia of cheeks 50
Hyperreflexia 209
Hypertrophy of cheeks 50
Hypoplasia of corpus callosum 90
Hypoplasia of the brainstem 22
Infratentorial atrophy 103
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Long palpebral fissure 17
Long philtrum 137
Low set ears 181
Macrotia 87
Mental and motor retardation 608
Muscle Spasticity 195
Neonatal Hypotonia 64
Optic Atrophy 242
PONTOCEREBELLAR HYPOPLASIA TYPE 3 (disorder) 1
Pontine hypoplasia 7
Poor head control 14
Prenatal onset 139
Progressive disorder 142
Progressive microcephaly 32
Prominent eyes 96
Prominent globes 96
Protruding eyes 96
Puffy cheeks 50
Seizures 596
Short stature 531
Supratentorial atrophy 94
Underweight 17
Unipolar Depression 250
Weight decreased 103
Weight less than 3rd percentile 17
Wide skull shape 88
hearing impairment 199
Disease Target Count Z-score Confidence
Mental Depression 333 0.0 1.7
Disease Target Count Z-score Confidence
Neurodegenerative disease 414 0.0 4.0

Expression

  Differential Expression (18)

Disease log2 FC p
adult high grade glioma -3.100 5.1e-04
astrocytic glioma -2.700 1.2e-03
Astrocytoma, Pilocytic -3.500 8.5e-09
atypical teratoid / rhabdoid tumor -4.100 4.4e-13
ependymoma -2.700 2.6e-03
glioblastoma -3.300 1.1e-09
group 4 medulloblastoma -1.400 4.1e-02
interstitial cystitis -1.300 1.1e-02
lung carcinoma 3.100 1.2e-41
malignant mesothelioma -1.800 2.5e-05
medulloblastoma, large-cell -2.900 4.5e-06
oligodendroglioma -2.200 9.6e-03
ovarian cancer -1.900 4.4e-09
Pick disease -1.800 3.9e-02
primitive neuroectodermal tumor -1.800 9.4e-03
psoriasis -1.400 1.2e-03
subependymal giant cell astrocytoma -2.553 4.8e-02
urothelial carcinoma -1.500 1.3e-02

Gene RIF (30)

AA Sequence

MGNEASLEGEGLPEGLAAAAAAGGGASGAGSPSHTAIPAGMEADLSQLSEEERRQIAAVMSRAQGLPKGS      1 - 70
VPPAAAESPSMHRKQELDSSHPPKQSGRPPDPGRPAQPGLSKSRTTDTFRSEQKLPGRSPSTISLKESKS     71 - 140
RTDLKEEHKSSMMPGFLSEVNALSAVSSVVNKFNPFDLISDSEASQEETTKKQKVVQKEQGKPEGIIKPP    141 - 210
LQQQPPKPIPKQQGPGRDPLQQDGTPKSISSQQPEKIKSQPPGTGKPIQGPTQTPQTDHAKLPLQRDASR    211 - 280
PQTKQADIVRGESVKPSLPSPSKPPIQQPTPGKPPAQQPGHEKSQPGPAKPPAQPSGLTKPLAQQPGTVK    281 - 350
PPVQPPGTTKPPAQPLGPAKPPAQQTGSEKPSSEQPGPKALAQPPGVGKTPAQQPGPAKPPTQQVGTPKP    351 - 420
LAQQPGLQSPAKAPGPTKTPVQAKPPSQQPGSTKPPPQQPGPAKPSPQQPGSTKPPSQQPGSAKPSAQQP    421 - 490
SPAKPSAQQSTKPVSQTGSGKPLQPPTVSPSAKQPPSQGLPKTICPLCNTTELLLHVPEKANFNTCTECQ    491 - 560
TTVCSLCGFNPNPHLTEVKEWLCLNCQMKRALGGDLAPVPSSPQPKLKTAPVTTTSAVSKSSPQPQQTSP    561 - 630
KKDAAPKQDLSKAPEPKKPPPLVKQPTLHGSPSAKAKQPPEADSLSKPAPPKEPSVPSEQDKAPVADDKP    631 - 700
KQPKMVKPTTDLVSSSSATTKPDIPSSKVQSQAEEKTTPPLKTDSAKPSQSFPPTGEKVSPFDSKAIPRP    701 - 770
ASDSKIISHPGPSSESKGQKQVDPVQKKEEPKKAQTKMSPKPDAKPMPKGSPTPPGPRPTAGQTVPTPQQ    771 - 840
SPKPQEQSRRFSLNLGSITDAPKSQPTTPQETVTGKLFGFGASIFSQASNLISTAGQPGPHSQSGPGAPM    841 - 910
KQAPAPSQPPTSQGPPKSTGQAPPAPAKSIPVKKETKAPAAEKLEPKAEQAPTVKRTETEKKPPPIKDSK    911 - 980
SLTAEPQKAVLPTKLEKSPKPESTCPLCKTELNIGSKDPPNFNTCTECKNQVCNLCGFNPTPHLTENCQT    981 - 1050
QRAISGQLGDIRKMPPAPSGPKASPMPVPTESSSQKTAVPPQVKLVKKQEQEVKTEAEKVILEKVKETLS   1051 - 1120
MEKIPPMVTTDQKQEESKLEKDKASALQEKKPLPEEKKLIPEEEKIRSEEKKPLLEEKKPTPEDKKLLPE   1121 - 1190
AKTSAPEEQKHDLLKSQVQIAEEKLEGRVAPKTVQEGKQPQTKMEGLPSGTPQSLPKEDDKTTKTIKEQP   1191 - 1260
QPPCTAKPDQEKEDDKSDTSSSQQPKSPQGLSDTGYSSDGISSSLGEIPSLIPTDEKDILKGLKKDSFSQ   1261 - 1330
ESSPSSPSDLAKLESTVLSILEAQASTLADEKSEKKTQPHEVSPEQPKDQEKTQSLSETLEITISEEEIK   1331 - 1400
ESQEERKDTFKKDSQQDIPSSKDHKEKSEFVDDITTRREPYDSVEESSESENSPVPQRKRRTSVGSSSSD   1401 - 1470
EYKQEDSQGSGEEEDFIRKQIIEMSADEDASGSEDDEFIRNQLKEISSSTESQKKEETKGKGKITAGKHR   1471 - 1540
RLTRKSSTSIDEDAGRRHSWHDEDDEAFDESPELKYRETKSQESEELVVTGGGGLRRFKTIELNSTIADK   1541 - 1610
YSAESSQKKTSLYFDEEPELEMESLTDSPEDRSRGEGSSSLHASSFTPGTSPTSVSSLDEDSDSSPSHKK   1611 - 1680
GESKQQRKARHRPHGPLLPTIEDSSEEEELREEEELLKEQEKQREIEQQQRKSSSKKSKKDKDELRAQRR   1681 - 1750
RERPKTPPSNLSPIEDASPTEELRQAAEMEELHRSSCSEYSPSIESDPEGFEISPEKIIEVQKVYKLPTA   1751 - 1820
VSLYSPTDEQSIMQKEGSQKALKSAEEMYEEMMHKTHKYKAFPAANERDEVFEKEPLYGGMLIEDYIYES   1821 - 1890
LVEDTYNGSVDGSLLTRQEEENGFMQQKGREQKIRLSEQIYEDPMQKITDLQKEFYELESLHSVVPQEDI   1891 - 1960
VSSSFIIPESHEIVDLGTMVTSTEEERKLLDADAAYEELMKRQQMQLTPGSSPTQAPIGEDMTESTMDFD   1961 - 2030
RMPDASLTSSVLSGASLTDSTSSATLSIPDVKITQHFSTEEIEDEYVTDYTREIQEIIAHESLILTYSEP   2031 - 2100
SESATSVPPSDTPSLTSSVSSVCTTDSSSPITTLDSITTVYTEPVDMITKFEDSEEISSSTYFPGSIIDY   2101 - 2170
PEEISVSLDRTAPPDGRASADHIVISLSDMASSIIESVVPKPEGPVADTVSTDLLISEKDPVKKAKKETG   2171 - 2240
NGIILEVLEAYRDKKELEAERTKSSLSETVFDHPPSSVIALPMKEQLSTTYFTSGETFGQEKPASQLPSG   2241 - 2310
SPSVSSLPAKPRPFFRSSSLDISAQPPPPPPPPPPPPPPPPPPPPPPLPPPTSPKPTILPKKKLTVASPV   2311 - 2380
TTATPLFDAVTTLETTAVLRSNGLPVTRICTTAPPPVPPKPSSIPSGLVFTHRPEPSKPPIAPKPVIPQL   2381 - 2450
PTTTQKPTDIHPKPTGLSLTSSMTLNLVTSADYKLPSPTSPLSPHSNKSSPRFSKSLTETYVVITLPSEP   2451 - 2520
GTPTDSSASQAITSWPLGSPSKDLVSVEPVFSVVPPVTAVEIPISSEQTFYISGALQTFSATPVTAPSSF   2521 - 2590
QAAPTSVTQFLTTEVSKTEVSATRSTAPSVGLSSISITIPPEPLALDNIHLEKPQYKEDGKLQLVGDVID   2591 - 2660
LRTVPKVEVKTTDKCIDLSASTMDVKRQITANEVYGKQISAVQPSIINLSVTSSIVTPVSLATETVTFVT   2661 - 2730
CTASASYTTGTESLVGAEHAMTTPLQLTTSKHAEPPYRIPSDQVFPIAREEAPINLSLGTPAHAVTLAIT   2731 - 2800
KPVTVPPVGVTNGWTDSTVSQGITDGEVVDLSTTKSHRTVVTMDESTSSVMTKIIEDEKPVDLTAGRRAV   2801 - 2870
CCDVVYKLPFGRSCTAQQPATTLPEDRFGYRDDHYQYDRSGPYGYRGIGGMKPSMSDTNLAEAGHFFYKS   2871 - 2940
KNAFDYSEGTDTAVDLTSGRVTTGEVMDYSSKTTGPYPETRQVISGAGISTPQYSTARMTPPPGPQYCVG   2941 - 3010
SVLRSSNGVVYSSVATPTPSTFAITTQPGSIFSTTVRDLSGIHTADAVTSLPAMHHSQPMPRSYFITTGA   3011 - 3080
SETDIAVTGIDISASLQTITMESLTAETIDSVPTLTTASEVFPEVVGDESALLIVPEEDKQQQQLDLERE   3081 - 3150
LLELEKIKQQRFAEELEWERQEIQRFREQEKIMVQKKLEELQSMKQHLLFQQEEERQAQFMMRQETLAQQ   3151 - 3220
QLQLEQIQQLQQQLHQQLEEQKIRQIYQYNYDPSGTASPQTTTEQAILEGQYAALEGSQFWATEDATTTA   3221 - 3290
SAVVAIEIPQSQGWYTVQSDGVTQYIAPPGILSTVSEIPLTDVVVKEEKQPKKRSSGAKVRGQYDDMGEN   3291 - 3360
MTDDPRSFKKIVDSGVQTDDEDATDRSYVSRRRRTKKSVDTSVQTDDEDQDEWDMPTRSRRKARVGKYGD   3361 - 3430
SMTEADKTKPLSKVSSIAVQTVAEISVQTEPVGTIRTPSIRARVDAKVEIIKHISAPEKTYKGGSLGCQT   3431 - 3500
EADSDTQSPQYLSATSPPKDKKRPTPLEIGYSSHLRADSTVQLAPSPPKSPKVLYSPISPLSPGKALESA   3501 - 3570
FVPYEKPLPDDISPQKVLHPDMAKVPPASPKTAKMMQRSMSDPKPLSPTADESSRAPFQYTEGYTTKGSQ   3571 - 3640
TMTSSGAQKKVKRTLPNPPPEEISTGTQSTFSTMGTVSRRRICRTNTMARAKILQDIDRELDLVERESAK   3641 - 3710
LRKKQAELDEEEKEIDAKLRYLEMGINRRKEALLKEREKRERAYLQGVAEDRDYMSDSEVSSTRPTRIES   3711 - 3780
QHGIERPRTAPQTEFSQFIPPQTQTESQLVPPTSPYTQYQYSSPALPTQAPTSYTQQSHFEQQTLYHQQV   3781 - 3850
SPYQTQPTFQAVATMSFTPQVQPTPTPQPSYQLPSQMMVIQQKPRQTTLYLEPKITSNYEVIRNQPLMIA   3851 - 3920
PVSTDNTFAVSHLGSKYNSLDLRIGLEERSSMASSPISSISADSFYADIDHHTPRNYVLIDDIGEITKGT   3921 - 3990
AALSTAFSLHEKDLSKTDRLLRTTETRRSQEVTDFLAPLQSSSRLHSYVKAEEDPMEDPYELKLLKHQIK   3991 - 4060
QEFRRGTESLDHLAGLSHYYHADTSYRHFPKSEKYSISRLTLEKQAAKQLPAAILYQKQSKHKKSLIDPK   4061 - 4130
MSKFSPIQESRDLEPDYSSYMTSSTSSIGGISSRARLLQDDITFGLRKNITDQQKFMGSSLGTGLGTLGN   4131 - 4200
TIRSALQDEADKPYSSGSRSRPSSRPSSVYGLDLSIKRDSSSSSLRLKAQEAEALDVSFSHASSSARTKP   4201 - 4270
TSLPISQSRGRIPIVAQNSEEESPLSPVGQPMGMARAAAGPLPPISADTRDQFGSSHSLPEVQQHMREES   4271 - 4340
RTRGYDRDIAFIMDDFQHAMSDSEAYHLRREETDWFDKPRESRLENGHGLDRKLPERLVHSRPLSQHQEQ   4341 - 4410
IIQMNGKTMHYIFPHARIKITRDSKDHTVSMQVLEWNGIPLTSKTYEEVQSIISQQSGEAEICVRLDLNM   4411 - 4480
LSDSENSQHLELHEPPKAVDKAKSPGVDPKQLAAELQKVSLQQSPLVLSSVVEKGSHVHSGPTSAGSSSV   4481 - 4550
PSPGQPGSPSVSKKKHGSSKLQINYDLGNLIIHILQARNLVPRDNNGYSDPFVKVYLLPGRGAEYKRRTK   4551 - 4620
HVQKSLNPEWNQTVIYKSISMEQLKKKTLEVTVWDYDRFSSNDFLGEVLIDLSSTSHLDNTPRWYPLKEQ   4621 - 4690
TESIDHGKSHSSQSSQQSPKPSVIKSRSHGIFPDPSKDMQVPTIEKSHSSPGSSKSSSEGHLRSHGPSRS   4691 - 4760
QSKTSVTQTHLEDAGAAIAAAEAAVQQLRIQPTAHKSGQSNHARKQHRHSIAGVLPIQRTQSDNLPPPAN   4761 - 4830
GNQDQSQLALRKVMSDGPVKPEGAKPPNHRPAESSVSTGSSGSSFGSGYSVDSEGSSSTAGETNLFPIPR   4831 - 4900
IGKMGQNGQEPVKQPGVGVGLADTEAKTQVMGEIKIALKKEMKTDGEQLIVEILQCRNITYKFKSPDHLP   4901 - 4970
DLYVKIYVMNISTQKKVIKKKTRVCRHDREPSFNETFRFSLSPAGHSLQILLFSNGGKFMKKTLIGEACI   4971 - 5040
WLDKVDLRKRIVNWHKLLVSPTQTH                                                5041 - 5065
//

Text Mined References (39)

PMID Year Title