Property Summary

NCBI Gene PubMed Count 193
PubMed Score 692.05
PubTator Score 414.82

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
spina bifida 1074
Piebaldism 15
Abnormality of vision 40
Accessory rib 10
Aplasia/Hypoplasia involving the nose 5
Atelectasis 8
Atresia of nasolacrimal duct 4
Atresia of vagina 10
Autosomal dominant contiguous gene syndrome 2
Autosomal recessive predisposition 1442
Blepharophimosis 70
Blonde eyebrow 5
Brachydactyly 156
Broad flat nasal bridge 236
Bushy eyebrows 49
Carpal synostosis 12
Class III malocclusion 78
Cleft palate with cleft lip 23
Concave bridge of nose 195
Congenital Hand Deformities 8
Congenital clinodactyly 57
Congenital deafness 185
Congenital hypoplasia of nose 5
Congenital neurologic anomalies 20
Congenital sensorineural hearing loss 12
Convex nasal bridge 57
Curvature of digit 57
Cutaneous finger syndactyly 11
Decreased projection of maxilla 66
Deficiency of upper jaw bones 66
Depressed nasal bridge 195
Depressed nasal ridge 51
Depressed nasal root/bridge 195
Downward slant of palpebral fissure 158
Dull intelligence 645
Flat face 52
Flexion contracture of proximal interphalangeal joint 75
Grey eyebrow 5
Grey eyelashes 5
Hearing Loss, Partial 185
Heterochromia iridis 9
Highly variable severity 157
Hirschsprung Disease 31
Hypertrophy of lower jaw 78
Hypoplasia of the maxilla 66
Hypoplastic iris stoma 4
Hypotrophic malar bone 129
Hypotrophic maxilla 66
Hypotrophic nose 5
Increased size of mandible 78
Intellectual disability 1016
Inverted V-shaped upper lip 19
Joint stiffness 84
Klein's Syndrome 1
Lacrimation abnormality 4
Low intelligence 645
Malar flattening 129
Mandibular hyperplasia 78
Maxillary retrognathia 66
Megacolon 29
Mental Retardation 645
Mental deficiency 645
Microstomia 78
Narrow face 54
Narrow nose 20
Nasal bridge wide 236
Oral cleft 18
Orbital separation excessive 244
Pinched bridge of nose 14
Pinched nasal bridge 14
Poor school performance 645
Premature canities 24
Prominent nasal bridge 57
Retinal depigmentation 12
Retrusion of upper jaw bones 66
Scapular weakness 23
Sensorineural Hearing Loss (disorder) 284
Short nose 132
Small head 374
Small nose 132
Smooth philtrum 43
Spastic Paraplegia 42
Sprengel deformity 16
Supernumerary vertebra 2
Synophrys 40
Synostosis of carpal bones 9
Telecanthus 62
Tented mouth 19
Tented upper lip 19
Thin face 54
Thin hypoplastic alae nasi 51
Ulnar deviation of hand 9
Ulnar deviation of the fingers 21
Ulnar deviation of the wrist 8
Vagina absent 2
Vagina aplasia 2
Variable expressivity 157
Waardenburg Syndrome Type 1 1
White eyebrows 5
White eyelashes 5
White forelock 12
White hair 7
Winged scapula 23
blue iris (physical finding) 17
hearing impairment 199
hypopigmented skin patch 59
mandibular excess (physical finding) 78
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9
Kidney cancer 2613 0.0 0.6
Disease Target Count Z-score Confidence
Cancer 2499 0.0 4.0

Expression

  Differential Expression (6)

Disease log2 FC p
Astrocytoma, Pilocytic 2.600 9.3e-03
atypical teratoid/rhabdoid tumor 2.400 1.5e-02
cystic fibrosis and chronic rhinosinusit... 1.546 2.2e-02
ependymoma 4.100 1.2e-05
medulloblastoma 1.800 3.6e-02
osteosarcoma 1.064 2.5e-03

 GO Component (1)

Protein-protein Interaction (1)

Gene RIF (132)

AA Sequence

MTTLAGAVPRMMRPGPGQNYPRSGFPLEVSTPLGQGRVNQLGGVFINGRPLPNHIRHKIVEMAHHGIRPC      1 - 70
VISRQLRVSHGCVSKILCRYQETGSIRPGAIGGSKPKQVTTPDVEKKIEEYKRENPGMFSWEIRDKLLKD     71 - 140
AVCDRNTVPSVSSISRILRSKFGKGEEEEADLERKEAEESEKKAKHSIDGILSERASAPQSDEGSDIDSE    141 - 210
PDLPLKRKQRRSRTTFTAEQLEELERAFERTHYPDIYTREELAQRAKLTEARVQVWFSNRRARWRKQAGA    211 - 280
NQLMAFNHLIPGGFPPTAMPTLPTYQLSETSYQPTSIPQAVSDPSSTVHRPQPLPPSTVHQSTIPSNPDS    281 - 350
SSAYCLPSTRHGFSSYTDSFVPPSGPSNPMNPTIGNGLSPQVMGLLTNHGGVPHQPQTDYALSPLTGGLE    351 - 420
PTTTVSASCSQRLDHMKSLDSLPTSQSYCPPTYSTTGYSMDPVTGYQYGQYGQSKPWTF               421 - 479
//

Text Mined References (196)

PMID Year Title