Property Summary

NCBI Gene PubMed Count 48
PubMed Score 38.00
PubTator Score 36.21

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Abnormality of the elbow 6
Abnormality of the metaphyses 48
Acquired flat foot 72
Anteverted nostril 191
Autosomal recessive predisposition 1442
Bilateral fifth finger clinodactyly 110
Broad forehead 59
Bulbous nasal tip 48
Bulbous nose 48
Bushy eyebrows 49
Class III malocclusion 78
Concave bridge of nose 195
Curvature of little finger 110
Decreased projection of midface 105
Defective tooth enamel 31
Delayed bone age 136
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Dwarfism tall vertebrae 3
Dystrophic tooth enamel 31
Enamel abnormalities 31
Enlarged thorax 18
Everted lower lip vermilion 54
Fetal Growth Retardation 189
Flatfoot 73
Frontal bossing 157
Full lower lip 64
Horizontal ribs 5
Hypertrophy of lower jaw 78
Hypoplastic ischia 11
Hypoplastic pelvis 9
Hypoplastic pubic bone 7
Hypotrophic malar bone 129
Hypotrophic midface 105
Increased size of mandible 78
Increased vertebral height 4
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Joint hyperflexibility 78
Late tooth eruption 61
Long narrow head 75
Long philtrum 137
Lordosis 54
Low Birth Weights 69
Malar flattening 129
Mandibular hyperplasia 78
Micromelia 58
Midface retrusion 105
Narrow cranium shape 75
Narrow head shape 75
Narrow skull shape 75
Pectus excavatum 100
Penile hypospadias 106
Pointed chin 33
Postnatal growth retardation 57
Potato nose 48
Prominent ear 56
Prominent lower lip 64
Protruding ears 56
Protruding lower lip 54
Range of joint movement increased 32
Renal Cell Carcinoma 214
Respiratory Distress Syndrome 15
Scapular weakness 23
Short fifth finger 9
Short neck 140
Short ribs 30
Short stature 531
Short thorax 21
Short ulnae 24
Slender, gracile long tubular bones 21
Small for gestational age (disorder) 69
Small midface 105
Small testicle 75
Spina bifida occulta 19
Thin rib 21
Triangular face 58
Turridolichocephaly 75
ULNAR HYPOPLASIA 24
Vertical Talus 25
Winged scapula 23
mandibular excess (physical finding) 78
Disease Target Count P-value
atypical teratoid / rhabdoid tumor 5112 1.5e-05
diabetes mellitus 1728 1.8e-03
osteosarcoma 7950 2.8e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.2
Kidney cancer 2613 0.0 0.5
Disease Target Count
3-M syndrome 15
Three M Syndrome 1 1

Expression

  Differential Expression (3)

Disease log2 FC p
atypical teratoid / rhabdoid tumor 1.200 1.5e-05
diabetes mellitus -1.200 1.8e-03
osteosarcoma 1.171 2.8e-02

Gene RIF (29)

AA Sequence

MVGELRYREFRVPLGPGLHAYPDELIRQRVGHDGHPEYQIRWLILRRGDEGDGGSGQVDCKAEHILLWMS      1 - 70
KDEIYANCHKMLGEDGQVIGPSQESAGEVGALDKSVLEEMETDVKSLIQRALRQLEECVGTIPPAPLLHT     71 - 140
VHVLSAYASIEPLTGVFKDPRVLDLLMHMLSSPDYQIRWSAGRMIQALSSHDAGTRTQILLSLSQQEAIE    141 - 210
KHLDFDSRCALLALFAQATLSEHPMSFEGIQLPQVPGRVLFSLVKRYLHVTSLLDQLNDSAAEPGAQNTS    211 - 280
APEELSGERGQLELEFSMAMGTLISELVQAMRWDQASDRPRSSARSPGSIFQPQLADVSPGLPAAQAQPS    281 - 350
FRRSRRFRPRSEFASGNTYALYVRDTLQPGMRVRMLDDYEEISAGDEGEFRQSNNGVPPVQVFWESTGRT    351 - 420
YWVHWHMLEILGFEEDIEDMVEADEYQGAVASRVLGRALPAWRWRPMTELYAVPYVLPEDEDTEECEHLT    421 - 490
LAEWWELLFFIKKLDGPDHQEVLQILQENLDGEILDDEILAELAVPIELAQDLLLTLPQRLNDSALRDLI    491 - 560
NCHVYKKYGPEALAGNQAYPSLLEAQEDVLLLDAQAQAKDSEDAAKVEAKEPPSQSPNTPLQRLVEGYGP    561 - 630
AGKILLDLEQALSSEGTQENKVKPLLLQLQRQPQPFLALMQSLDTPETNRTLHLTVLRILKQLVDFPEAL    631 - 700
LLPWHEAVDACMACLRSPNTDREVLQELIFFLHRLTSVSRDYAVVLNQLGARDAISKALEKHLGKLELAQ    701 - 770
ELRDMVFKCEKHAHLYRKLITNILGGCIQMVLGQIEDHRRTHQPINIPFFDVFLRYLCQGSSVEVKEDKC    771 - 840
WEKVEVSSNPHRASKLTDHNPKTYWESNGSAGSHYITLHMRRGILIRQLTLLVASEDSSYMPARVVVCGG    841 - 910
DSTSSLHTELNSVNVMPSASRVILLENLTRFWPIIQIRIKRCQQGGIDTRIRGLEILGPKPTFWPVFREQ    911 - 980
LCRHTRLFYMVRAQAWSQDMAEDRRSLLHLSSRLNGALRQEQNFADRFLPDDEAAQALGKTCWEALVSPV    981 - 1050
VQNITSPDEDGISPLGWLLDQYLECQEAVFNPQSRGPAFFSRVRRLTHLLVHVEPCEAPPPVVATPRPKG   1051 - 1120
RNRSHDWSSLATRGLPSSIMRNLTRCWRAVVEKQVNNFLTSSWRDDDFVPRYCEHFNILQNSSSELFGPR   1121 - 1190
AAFLLALQNGCAGALLKLPFLKAAHVSEQFARHIDQQIQGSRIGGAQEMERLAQLQQCLQAVLIFSGLEI   1191 - 1260
ATTFEHYYQHYMADRLLGVVSSWLEGAVLEQIGPCFPNRLPQQMLQSLSTSKELQRQFHVYQLQQLDQEL   1261 - 1330
LKLEDTEKKIQVGLGASGKEHKSEKEEEAGAAAVVDVAEGEEEEEENEDLYYEGAMPEVSVLVLSRHSWP   1331 - 1400
VASICHTLNPRTCLPSYLRGTLNRYSNFYNKSQSHPALERGSQRRLQWTWLGWAELQFGNQTLHVSTVQM   1401 - 1470
WLLLYLNDLKAVSVESLLAFSGLSADMLNQAIGPLTSSRGPLDLHEQKDIPGGVLKIRDGSKEPRSRWDI   1471 - 1540
VRLIPPQTYLQAEGEDGQNLEKRRNLLNCLIVRILKAHGDEGLHIDQLVCLVLEAWQKGPCPPRGLVSSL   1541 - 1610
GKGSACSSTDVLSCILHLLGKGTLRRHDDRPQVLSYAVPVTVMEPHTESLNPGSSGPNPPLTFHTLQIRS   1611 - 1680
RGVPYASCTATQSFSTFR                                                       1681 - 1698
//

Text Mined References (55)

PMID Year Title