Property Summary

NCBI Gene PubMed Count 25
PubMed Score 2.71
PubTator Score 7.66

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Martsolf syndrome 2 0.0 0.0
Warburg Sjo Fledelius syndrome 4 0.0 0.0
Disease Target Count
Abnormal dermatoglyphic pattern 24
Abnormal visual evoked potential 26
Abnormality of nail of toe 11
Abnormality of position of teeth 8
Abnormality of retinal pigmentation 111
Abnormality of the distal phalanx of finger 3
Abnormally small eyeball 97
Absence of visual evoked potentials 2
Acquired scoliosis 281
Agyria 15
Anteverted nostril 191
Asymmetric ears 2
Autosomal recessive predisposition 1442
Axial hypotonia 46
Blindness, Cortical 24
Brachycephaly 88
Broad cranium shape 88
Broad fingertips 1
Broad flat nasal bridge 236
Broad nasal tip 28
Byzanthine arch palate 194
Cardiomyopathies 110
Cataract 297
Cerebral atrophy 178
Clitoral hypoplasia 11
Cognitive delay 608
Concave bridge of nose 195
Congenital Bilateral Cataracts 50
Congenital Epicanthus 177
Congenital cataract 50
Congenital clubfoot 109
Congenital hypoplasia of penis 176
Congenital pectus carinatum 52
Congestive heart failure 113
Contracture 96
Contracture of joint 93
Convex nasal bridge 57
Corneal diameter decreased 47
Cortical visual impairment 24
Cryptorchidism 296
Curvature of spine 282
Decreased projection of maxilla 66
Decreased projection of midface 105
Decreased size of eyeball 97
Deficiency of upper jaw bones 66
Delayed Puberty 97
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Downward slant of palpebral fissure 158
Dull intelligence 645
Everted lower lip vermilion 54
Feeding difficulties in infancy 175
Fetal Growth Retardation 189
Fissured tongue 25
Flexion contracture 93
Flexion contractures of joints 93
Generalized hirsutism 36
Global brain atrophy 7
Global developmental delay 608
Global developmental delay, severe 47
Heart failure 162
Hyperkyphosis 111
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hypoplasia of corpus callosum 90
Hypoplasia of scrotum 24
Hypoplasia of the maxilla 66
Hypoplasia or absence of the corpus callosum 23
Hypoplastic labia minora 10
Hypoplastic mandible condyle 275
Hypoplastic toes 29
Hypotrophic malar bone 129
Hypotrophic maxilla 66
Hypotrophic midface 105
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intrauterine retardation 176
Joint stiffness 84
Kyphosis deformity of spine 114
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Lens Opacities 231
Lissencephaly 69
Lordosis 54
Low anterior hairline 30
Low intelligence 645
Low posterior hairline 52
Low-set, posteriorly rotated ears 110
Lumbar lordosis 35
Macrotia 87
Malar flattening 129
Mandibular hypoplasia 275
Maxillary retrognathia 66
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Metatarsus Varus 24
Microcornea 47
Micrognathism 275
Microphthalmos 100
Midface retrusion 105
Misalignment of teeth 8
Muscle Spasticity 195
Muscle hypotonia 571
Nasal bridge wide 236
Optic Atrophy 242
Orbital separation diminished 23
Overriding toe 10
Pachygyria 41
Pectus excavatum 100
Polymicrogyria 48
Poor school performance 645
Posteriorly rotated ear 61
Postnatal growth retardation 57
Postnatal microcephaly 24
Precociously senile appearance 18
Progressive mental retardation 37
Prominent antitragus 1
Prominent nasal bridge 57
Prominent nipples 2
Protruding lower lip 54
Recurrent respiratory infections 141
Retinal pigment epithelial abnormality 111
Retrusion of upper jaw bones 66
Severe mental retardation (I.Q. 20-34) 99
Severe psychomotor retardation 47
Short hands 50
Short metacarpal 43
Short nose 132
Short phalanx of finger 32
Short philtrum 53
Short stature 531
Slender ulnae 1
Small head 374
Small labia majora 16
Small midface 105
Small nose 132
Talipes valgus 3
Toeing-in 24
Tracheomalacia 22
Ulnar deviation of the fingers 21
Wide skull shape 88
Disease Target Count P-value
ovarian cancer 8520 4.9e-06
osteosarcoma 7950 8.6e-05
lung cancer 4740 9.8e-03
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1
Kidney cancer 2613 0.0 0.6

Expression

  Differential Expression (3)

Disease log2 FC p
lung cancer 1.100 9.8e-03
osteosarcoma 1.082 8.6e-05
ovarian cancer -1.300 4.9e-06

Protein-protein Interaction (1)

Gene RIF (9)

AA Sequence

MACSIVQFCYFQDLQAARDFLFPHLREEILSGALRRDPSKSTDWEDDGWGAWEENEPQEPEEEGNTCKTQ      1 - 70
KTSWLQDCVLSLSPTNDLMVIAREQKAVFLVPKWKYSDKGKEEMQFAVGWSGSLNVEEGECVTSALCIPL     71 - 140
ASQKRSSTGRPDWTCIVVGFTSGYVRFYTENGVLLLAQLLNEDPVLQLKCRTYEIPRHPGVTEQNEELSI    141 - 210
LYPAAIVTIDGFSLFQSLRACRNQVAKAAASGNENIQPPPLAYKKWGLQDIDTIIDHASVGIMTLSPFDQ    211 - 280
MKTASNIGGFNAAIKNSPPAMSQYITVGSNPFTGFFYALEGSTQPLLSHVALAVASKLTSALFNAASGWL    281 - 350
GWKSKHEEEAVQKQKPKVEPATPLAVRFGLPDSRRHGESICLSPCNTLAAVTDDFGRVILLDVARGIAIR    351 - 420
MWKGYRDAQIGWIQTVEDLHERVPEKADFSPFGNSQGPSRVAQFLVIYAPRRGILEVWSTQQGPRVGAFN    421 - 490
VGKHCRLLYPGYKIMGLNNVTSQSWQPQTYQICLVDPVSGSVKTVNVPFHLALSDKKSERAKDMHLVKKL    491 - 560
AALLKTKSPNLDLVETEIKELILDIKYPATKKQALESILASERLPFSCLRNITQTLMDTLKSQELESVDE    561 - 630
GLLQFCANKLKLLQLYESVSQLNSLDFHLDTPFSDNDLALLLRLDEKELLKLQALLEKYKQENTRTNVRF    631 - 700
SDDKDGVLPVKTFLEYLEYEKDVLNIKKISEEEYVALGSFFFWKCLHGESSTEDMCHTLESAGLSPQLLL    701 - 770
SLLLSVWLSKEKDILDKPQSICCLHTMLSLLSKMKVAIDETWDSQSVSPWWQQMRTACIQSENNGAALLS    771 - 840
AHVGHSVAAQISNNMTEKKFSQTVLGADSEALTDSWEALSLDTEYWKLLLKQLEDCLILQTLLHSKGNTQ    841 - 910
TSKVSSLQAEPLPRLSVKKLLEGGKGGIADSVAKWIFKQDFSPEVLKLANEERDAENPDEPKEGVNRSFL    911 - 980
EVSEMEMDLGAIPDLLHLAYEQFPCSLELDVLHAHCCWEYVVQWNKDPEEARFFVRSIEHLKQIFNAHVQ    981 - 1050
NGIALMMWNTFLVKRFSAATYLMDKVGKSPKDRLCRRDVGMSDTAMTSFLGSCLDLLQILMEADVSRDEI   1051 - 1120
QVPVLDTEDAWLSVEGPISIVELALEQKHIHYPLVEHHSILCSILYAVMRFSLKTVKPLSLFDSKGKNAF   1121 - 1190
FKDLTSIQLLPSGEMDPNFISVRQQFLLKVVSAAVQAQHSATKVKDPTEEATPTPFGKDQDWPALAVDLA   1191 - 1260
HHLQVSEDVVRRHYVGELYNYGVDHLGEEAILQVHDKEVLASQLLVLTGQRLAHALLHTQTKEGMELLAR   1261 - 1330
LPPTLCTWLKAMDPQDLQNTEVPIATTAKLVNKVIELLPEKHGQYGLALHLIEAVEAISLPSL          1331 - 1393
//

Text Mined References (32)

PMID Year Title