Property Summary

NCBI Gene PubMed Count 401
PubMed Score 4054.18
PubTator Score 4359.22

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Hydrocephalus 152
Abdominal wall muscle weakness 6
Abnormal helices 11
Abnormality of the lymphatic system 14
Abnormality of the thorax 19
Acquired cubitus valgus 18
Acquired scoliosis 281
Axillary freckling 5
Big calvaria 147
Birthmark 35
Bleeding time prolonged 31
Blepharoptosis 231
Cafe au lait spots, multiple 17
Cafe-au-Lait Spots 37
Cafe-au-lait macules with pulmonary stenosis 2
Cardiovascular Abnormalities 31
Cardiovascular Diseases 59
Cognitive delay 608
Concave bridge of nose 195
Congenital Epicanthus 177
Cryptorchidism 296
Curvature of spine 282
Decreased projection of midface 105
Defective enamel matrix 35
Deglutition Disorders 132
Delayed speech and language development 112
Dental Enamel Hypoplasia 43
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Downward slant of palpebral fissure 158
Dull intelligence 645
Dysplasia of tooth enamel 35
Fetal overgrowth 16
Freckles 33
Generalized overgrowth 16
Global developmental delay 608
Hypertensive disease 292
Hypertrophic Cardiomyopathy 117
Hypotrophic malar bone 129
Hypotrophic midface 105
Increase in blood pressure 119
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Inguinal freckling 1
Language Delay 112
Leukemia, Myelocytic, Acute 120
Lisch nodules 1
Low intelligence 645
Low posterior hairline 52
Low set ears 181
Low-set, posteriorly rotated ears 110
Lymphatic Diseases 14
Malar flattening 129
Malignant peripheral nerve sheath tumor 12
Melanocytic nevus 43
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Midface retrusion 105
Mild Mental Retardation 70
Monoparesis - leg 27
Muscle Weakness 170
NF1 Microdeletion Syndrome 1
Neck webbing 35
Nerve Sheath Tumors 5
Neurofibrosarcoma 7
Optic nerve glioma 4
Orbital separation excessive 244
Ostium secundum atrial septal defect 9
Overgrowth 16
Paraparesis 6
Parathyroid Adenoma 19
Pectus carinatum superiorly 4
Pectus excavatum inferiorly 5
Poor school performance 645
Posteriorly rotated ear 61
Prominent nasolabial folds 5
Pulmonary Stenosis 45
Relative macrocephaly 12
Rhabdomyosarcoma 39
Short neck 140
Short stature 531
Small head 374
Small midface 105
Somatic mutation 61
Specific learning disability 47
Speech Delay 112
Speech impairment 112
Spinal Cord Neoplasms 2
Spinal nerve root neurofibromas, symmetric, multiple 1
Thin dental enamel 35
Weakness of lower limb 27
spina bifida 1074
Disease Target Count Z-score Confidence
lung cancer 4740 0.0 0.00337539516400028

Expression

  Differential Expression (11)

Disease log2 FC p
lung cancer 1.400 3.4e-03
Breast cancer -1.100 3.3e-07
ovarian cancer -1.400 7.9e-04
astrocytic glioma 1.300 1.3e-02
ependymoma 1.700 9.5e-03
lung adenocarcinoma 1.079 1.7e-06
malignant mesothelioma -1.100 4.2e-04
oligodendroglioma 1.400 1.8e-02
osteosarcoma 1.322 7.9e-04
psoriasis -1.500 1.1e-02
subependymal giant cell astrocytoma -1.225 4.6e-02

 GWAS Trait (1)

Gene RIF (314)

AA Sequence

MAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINISKYKFSLVISGLTTILKNVNNMRI      1 - 70
FGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNSASG     71 - 140
VLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKETAFKFKALKKVAQL    141 - 210
AVINSLEKAFWNWVENYPDEFTKLYQIPQTDMAECAEKLFDLVDGFAESTKRKAAVWPLQIILLILCPEI    211 - 280
IQDISKDVVDENNMNKKLFLDSLRKALAGHGGSRQLTESAAIACVKLCKASTYINWEDNSVIFLLVQSMV    281 - 350
VDLKNLLFNPSKPFSRGSQPADVDLMIDCLVSCFRISPHNNQHFKICLAQNSPSTFHYVLVNSLHRIITN    351 - 420
SALDWWPKIDAVYCHSVELRNMFGETLHKAVQGCGAHPAIRMAPSLTFKEKVTSLKFKEKPTDLETRSYK    421 - 490
YLLLSMVKLIHADPKLLLCNPRKQGPETQGSTAELITGLVQLVPQSHMPEIAQEAMEALLVLHQLDSIDL    491 - 560
WNPDAPVETFWEISSQMLFYICKKLTSHQMLSSTEILKWLREILICRNKFLLKNKQADRSSCHFLLFYGV    561 - 630
GCDIPSSGNTSQMSMDHEELLRTPGASLRKGKGNSSMDSAAGCSGTPPICRQAQTKLEVALYMFLWNPDT    631 - 700
EAVLVAMSCFRHLCEEADIRCGVDEVSVHNLLPNYNTFMEFASVSNMMSTGRAALQKRVMALLRRIEHPT    701 - 770
AGNTEAWEDTHAKWEQATKLILNYPKAKMEDGQAAESLHKTIVKRRMSHVSGGGSIDLSDTDSLQEWINM    771 - 840
TGFLCALGGVCLQQRSNSGLATYSPPMGPVSERKGSMISVMSSEGNADTPVSKFMDRLLSLMVCNHEKVG    841 - 910
LQIRTNVKDLVGLELSPALYPMLFNKLKNTISKFFDSQGQVLLTDTNTQFVEQTIAIMKNLLDNHTEGSS    911 - 980
EHLGQASIETMMLNLVRYVRVLGNMVHAIQIKTKLCQLVEVMMARRDDLSFCQEMKFRNKMVEYLTDWVM    981 - 1050
GTSNQAADDDVKCLTRDLDQASMEAVVSLLAGLPLQPEEGDGVELMEAKSQLFLKYFTLFMNLLNDCSEV   1051 - 1120
EDESAQTGGRKRGMSRRLASLRHCTVLAMSNLLNANVDSGLMHSIGLGYHKDLQTRATFMEVLTKILQQG   1121 - 1190
TEFDTLAETVLADRFERLVELVTMMGDQGELPIAMALANVVPCSQWDELARVLVTLFDSRHLLYQLLWNM   1191 - 1260
FSKEVELADSMQTLFRGNSLASKIMTFCFKVYGATYLQKLLDPLLRIVITSSDWQHVSFEVDPTRLEPSE   1261 - 1330
SLEENQRNLLQMTEKFFHAIISSSSEFPPQLRSVCHCLYQATCHSLLNKATVKEKKENKKSVVSQRFPQN   1331 - 1400
SIGAVGSAMFLRFINPAIVSPYEAGILDKKPPPRIERGLKLMSKILQSIANHVLFTKEEHMRPFNDFVKS   1401 - 1470
NFDAARRFFLDIASDCPTSDAVNHSLSFISDGNVLALHRLLWNNQEKIGQYLSSNRDHKAVGRRPFDKMA   1471 - 1540
TLLAYLGPPEHKPVADTHWSSLNLTSSKFEEFMTRHQVHEKEEFKALKTLSIFYQAGTSKAGNPIFYYVA   1541 - 1610
RRFKTGQINGDLLIYHVLLTLKPYYAKPYEIVVDLTHTGPSNRFKTDFLSKWFVVFPGFAYDNVSAVYIY   1611 - 1680
NCNSWVREYTKYHERLLTGLKGSKRLVFIDCPGKLAEHIEHEQQKLPAATLALEEDLKVFHNALKLAHKD   1681 - 1750
TKVSIKVGSTAVQVTSAERTKVLGQSVFLNDIYYASEIEEICLVDENQFTLTIANQGTPLTFMHQECEAI   1751 - 1820
VQSIIHIRTRWELSQPDSIPQHTKIRPKDVPGTLLNIALLNLGSSDPSLRSAAYNLLCALTCTFNLKIEG   1821 - 1890
QLLETSGLCIPANNTLFIVSISKTLAANEPHLTLEFLEECISGFSKSSIELKHLCLEYMTPWLSNLVRFC   1891 - 1960
KHNDDAKRQRVTAILDKLITMTINEKQMYPSIQAKIWGSLGQITDLLDVVLDSFIKTSATGGLGSIKAEV   1961 - 2030
MADTAVALASGNVKLVSSKVIGRMCKIIDKTCLSPTPTLEQHLMWDDIAILARYMLMLSFNNSLDVAAHL   2031 - 2100
PYLFHVVTFLVATGPLSLRASTHGLVINIIHSLCTCSQLHFSEETKQVLRLSLTEFSLPKFYLLFGISKV   2101 - 2170
KSAAVIAFRSSYRDRSFSPGSYERETFALTSLETVTEALLEIMEACMRDIPTCKWLDQWTELAQRFAFQY   2171 - 2240
NPSLQPRALVVFGCISKRVSHGQIKQIIRILSKALESCLKGPDTYNSQVLIEATVIALTKLQPLLNKDSP   2241 - 2310
LHKALFWVAVAVLQLDEVNLYSAGTALLEQNLHTLDSLRIFNDKSPEEVFMAIRNPLEWHCKQMDHFVGL   2311 - 2380
NFNSNFNFALVGHLLKGYRHPSPAIVARTVRILHTLLTLVNKHRNCDKFEVNTQSVAYLAALLTVSEEVR   2381 - 2450
SRCSLKHRKSLLLTDISMENVPMDTYPIHHGDPSYRTLKETQPWSSPKGSEGYLAATYPTVGQTSPRARK   2451 - 2520
SMSLDMGQPSQANTKKLLGTRKSFDHLISDTKAPKRQEMESGITTPPKMRRVAETDYEMETQRISSSQQH   2521 - 2590
PHLRKVSVSESNVLLDEEVLTDPKIQALLLTVLATLVKYTTDEFDQRILYEYLAEASVVFPKVFPVVHNL   2591 - 2660
LDSKINTLLSLCQDPNLLNPIHGIVQSVVYHEESPPQYQTSYLQSFGFNGLWRFAGPFSKQTQIPDYAEL   2661 - 2730
IVKFLDALIDTYLPGIDEETSEESLLTPTSPYPPALQSQLSITANLNLSNSMTSLATSQHSPGIDKENVE   2731 - 2800
LSPTTGHCNSGRTRHGSASQVQKQRSAGSFKRNSIKKIV                                  2801 - 2839
//

Text Mined References (419)

PMID Year Title