Property Summary

NCBI Gene PubMed Count 16
PubMed Score 35.36
PubTator Score 8.33

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormal dermatoglyphic pattern 24
Abnormal hair quantity 16
Abnormal platelet function 12
Abnormality of pulmonary valve 23
Abnormality of the spleen 13
Acquired scoliosis 281
Aortic coarctation 30
Aplasia/Hypoplasia of the abdominal wall musculature 17
Bleeding tendency 37
Blepharoptosis 231
Blood Coagulation Disorders 42
Byzanthine arch palate 194
Cardiac Arrhythmia 103
Cardiac conduction abnormalities 78
Coagulation abnormalities 27
Coarse hair 31
Conduction disorder of the heart 79
Congenital pectus carinatum 52
Cryptorchidism 296
Curvature of spine 282
Decreased projection of midface 105
Delayed bone age 136
Downward slant of palpebral fissure 158
Dysarthria 192
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Enlarged thorax 18
Excess nuchal skin 30
Exophthalmos 112
Feeding difficulties in infancy 175
Full lower lip 64
Heart Septal Defects 24
Hemorrhagic Disorders 30
Hepatomegaly 285
High forehead 102
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hypoplastic mandible condyle 275
Hypotrophic midface 105
Joint hyperflexibility 78
Low posterior hairline 52
Low-set, posteriorly rotated ears 110
Lymphangioma, Cystic 21
Mandibular hypoplasia 275
Micrognathism 275
Midface retrusion 105
Mitral valve stenosis 14
Muscle Weakness 170
Muscle hypotonia 571
Neck webbing 35
Neurofibromatosis 3 4
Orbital separation excessive 244
Pectus excavatum 100
Prominent eyes 96
Prominent globes 96
Prominent lower lip 64
Protruding eyes 96
Pulmonary Stenosis 45
Pulmonary artery stenosis 26
Rough hair texture 31
Short neck 140
Short stature 531
Small midface 105
Sternal anomalies 19
Strabismus 270
Tall forehead 102
Thickened helices 15
Triangular face 58
Wide spaced nipples 46
Disease Target Count P-value
osteosarcoma 7950 6.4e-06
Disease Target Count Z-score Confidence
Neurilemmomatosis 5 0.0 5.0
Disease Target Count Z-score Confidence
Neurilemmoma 23 5.444 2.7
Neurofibromatosis 40 3.669 1.8
Tetralogy of Fallot 67 3.097 1.5

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma -1.259 6.4e-06

Synonym

Accession Q8N653 Q14776 Q20WK0 LZTR-1
Symbols NS10
BTBD29
LZTR-1
SWNTS2

Gene

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

Gene RIF (8)

AA Sequence

MAGPGSTGGQIGAAALAGGARSKVAPSVDFDHSCSDSVEYLTLNFGPFETVHRWRRLPPCDEFVGARRSK      1 - 70
HTVVAYKDAIYVFGGDNGKTMLNDLLRFDVKDCSWCRAFTTGTPPAPRYHHSAVVYGSSMFVFGGYTGDI     71 - 140
YSNSNLKNKNDLFEYKFATGQWTEWKIEGRLPVARSAHGATVYSDKLWIFAGYDGNARLNDMWTIGLQDR    141 - 210
ELTCWEEVAQSGEIPPSCCNFPVAVCRDKMFVFSGQSGAKITNNLFQFEFKDKTWTRIPTEHLLRGSPPP    211 - 280
PQRRYGHTMVAFDRHLYVFGGAADNTLPNELHCYDVDFQTWEVVQPSSDSEVGGAEVPERACASEEVPTL    281 - 350
TYEERVGFKKSRDVFGLDFGTTSAKQPTQPASELPSGRLFHAAAVISDAMYIFGGTVDNNIRSGEMYRFQ    351 - 420
FSCYPKCTLHEDYGRLWESRQFCDVEFVLGEKEECVQGHVAIVTARSRWLRRKITQARERLAQKLEQEAA    421 - 490
PVPREAPGVAAGGARPPLLHVAIREAEARPFEVLMQFLYTDKIKYPRKGHVEDVLLIMDVYKLALSFQLC    491 - 560
RLEQLCRQYIEASVDLQNVLVVCESAARLQLSQLKEHCLNFVVKESHFNQVIMMKEFERLSSPLIVEIVR    561 - 630
RKQQPPPRTPLDQPVDIGTSLIQDMKAYLEGAGAEFCDITLLLDGHPRPAHKAILAARSSYFEAMFRSFM    631 - 700
PEDGQVNISIGEMVPSRQAFESMLRYIYYGEVNMPPEDSLYLFAAPYYYGFYNNRLQAYCKQNLEMNVTV    701 - 770
QNVLQILEAADKTQALDMKRHCLHIIVHQFTKVSKLPTLRSLSQQLLLDIIDSLASHISDKQCAELGADI    771 - 840
//

Text Mined References (17)

PMID Year Title