Property Summary

NCBI Gene PubMed Count 73
PubMed Score 197.56
PubTator Score 114.24

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Congenital diaphragmatic hernia 67
Cleft Lip 141
Abnormality of the rib cage 12
Acquired scoliosis 281
Afro-textured hair 13
Aplasia of nasal tip 1
Asymmetric lower limb shortness 1
Asymmetry of the posterior cranium 20
Axillary pterygia 6
Bifid nasal tip 4
Bilateral fifth finger clinodactyly 110
Bipartite clavicle 5
Brachycephaly 88
Brachydactyly 156
Broad cranium shape 88
Broad flat nasal bridge 236
Broad hallux 29
Broad hallux phalanx 8
Byzanthine arch palate 194
Central cleft of nose 3
Cleft Palate 271
Cleft palate with cleft lip 23
Cognitive delay 608
Coronal craniosynostosis 14
Cryptorchidism 296
Curvature of little finger 110
Curvature of spine 282
Dental abnormalities 60
Depressed nasal ridge 51
Downward slant of palpebral fissure 158
Dull intelligence 645
Excess nuchal skin 30
Exotropia 35
Facial asymmetry 32
Flattening of cranial vault 20
Flattening of head 20
Flexion contracture of proximal interphalangeal joint 75
Fragile nails 16
Frontal bossing 157
Global developmental delay 608
Hand polydactyly 11
Hypoplasia of corpus callosum 90
Hypoplastic nasal tip 1
Hypotrophic nasal tip 1
Intellectual disability 1016
Joint hyperflexibility 78
Joint laxity 54
Kinky hair texture 13
Longitudinal split nail 2
Low intelligence 645
Low posterior hairline 52
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Midline defect of the nose 3
Muscle hypotonia 571
Nappy hair texture 13
Nasal bridge wide 236
Notched nasal tip 4
Nystagmus 317
Oral cleft 18
Orbital separation excessive 244
Pectus excavatum 100
Penile hypospadias 106
Plagiocephaly 20
Plagiocephaly, Nonsynostotic 20
Poor school performance 645
Pseudoarthrosis of clavicle 5
Rhomboid shaped head 20
Ridged fingernails 4
Ridged nails 14
Sandal gap 24
Sensorineural Hearing Loss (disorder) 284
Shawl scrotum 9
Short neck 140
Short stature 531
Skull malformation 38
Sloping shoulders 21
Small head 374
Sprengel deformity 16
Syndactyly of fingers 48
Syndactyly of the toes 45
Telecanthus 62
Tooth Abnormalities 69
Umbilical hernia 93
Unilateral breast hypoplasia 1
Uranostaphyloschisis 167
WIDOW'S PEAK 6
Wide skull shape 88
Wooly hair 17
X-linked dominant 57
Disease Target Count P-value
lung adenocarcinoma 2716 1.2e-06
malignant mesothelioma 3232 7.1e-06
breast carcinoma 1638 6.6e-04
fibroadenoma 559 2.3e-03
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Acrocephalosyndactylia 17 3.484 1.7

Expression

  Differential Expression (4)

Disease log2 FC p
breast carcinoma -1.100 6.6e-04
fibroadenoma -1.300 2.3e-03
lung adenocarcinoma -1.300 1.2e-06
malignant mesothelioma -1.500 7.1e-06

Gene RIF (43)

AA Sequence

MARPGQRWLGKWLVAMVVWALCRLATPLAKNLEPVSWSSLNPKFLSGKGLVIYPKIGDKLDIICPRAEAG      1 - 70
RPYEYYKLYLVRPEQAAACSTVLDPNVLVTCNRPEQEIRFTIKFQEFSPNYMGLEFKKHHDYYITSTSNG     71 - 140
SLEGLENREGGVCRTRTMKIIMKVGQDPNAVTPEQLTTSRPSKEADNTVKMATQAPGSRGSLGDSDGKHE    141 - 210
TVNQEEKSGPGASGGSSGDPDGFFNSKVALFAAVGAGCVIFLLIIIFLTVLLLKLRKRHRKHTQQRAAAL    211 - 280
SLSTLASPKGGSGTAGTEPSDIIIPLRTTENNYCPHYEKVSGDYGHPVYIVQEMPPQSPANIYYKV        281 - 346
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Text Mined References (77)

PMID Year Title