Property Summary

NCBI Gene PubMed Count 17
PubMed Score 52.13
PubTator Score 15.78

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count Z-score Confidence
3C syndrome 2 0.0 0.0
Disease Target Count
ATRIOVENTRICULAR CANAL DEFECT 17
Abnormality of the fontanelles or cranial sutures 2
Abnormality of the mitral valve 3
Abnormality of the tricuspid valve 2
Acquired scoliosis 281
Aortic valve stenosis 28
Atrial Septal Defects 85
Big calvaria 147
Broad flat nasal bridge 236
Broad forehead 59
Broad hallux 29
Broad neck 4
Cerebellar Hypoplasia 61
Cerebellar hypoplasia and atrophy 41
Cleft Palate 271
Cognitive delay 608
Concave bridge of nose 195
Congenital Camptodactyly 40
Congenital clinodactyly 57
Cryptorchidism 296
Curvature of digit 57
Curvature of spine 282
Dandy-Walker Syndrome 39
Death in early childhood 82
Death in infancy 82
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Downward slant of palpebral fissure 158
Dull intelligence 645
Endocardial Cushion Defects 17
Frontal bossing 157
Global developmental delay 608
High, narrow palate 32
Hydrocephalus 152
Hyperkyphosis 111
Hypoplastic Left Heart Syndrome 14
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Intellectual disability 1016
Kyphosis deformity of spine 114
Low intelligence 645
Low posterior hairline 52
Low set ears 181
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Muscle hypotonia 571
Nasal bridge wide 236
Orbital separation excessive 244
Overriding toe 10
Patent ductus arteriosus 90
Poor school performance 645
Poor speech 37
Problems speaking 37
Prominent back of the head 21
Prominent occiput 21
Protrusion of tongue 11
Pulmonary Stenosis 45
Recurrent respiratory infections 141
Short distal phalanges 50
Short nose 132
Short philtrum 53
Short stature 531
Small nose 132
Speech Disorders 58
Syndactyly 88
Tetralogy of Fallot 63
Upward slant of palpebral fissure 75
Uranostaphyloschisis 167
Ventricular Septal Defects 119
X- linked recessive 110
Disease Target Count P-value
osteosarcoma 7950 3.2e-05
gastric carcinoma 807 4.2e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6

Expression

  Differential Expression (2)

Disease log2 FC p
gastric carcinoma 1.100 4.2e-02
osteosarcoma -1.803 3.2e-05

Gene RIF (9)

AA Sequence

MEEADRILIHSLRQAGTAVPPDVQTLRAFTTELVVEAVVRCLRVINPAVGSGLSPLLPLAMSARFRLAMS      1 - 70
LAQACMDLGYPLELGYQNFLYPSEPDLRDLLLFLAERLPTDASEDADQPAGDSAILLRAIGSQIRDQLAL     71 - 140
PWVPPHLRTPKLQHLQGSALQKPFHASRLVVPELSSRGEPREFQASPLLLPVPTQVPQPVGRVASLLEHH    141 - 210
ALQLCQQTGRDRPGDEDWVHRTSRLPPQEDTRAQRQRLQKQLTEHLRQSWGLLGAPIQARDLGELLQAWG    211 - 280
AGAKTGAPKGSRFTHSEKFTFHLEPQAQATQVSDVPATSRRPEQVTWAAQEQELESLREQLEGVNRSIEE    281 - 350
VEADMKTLGVSFVQAESECRHSKLSTAEREQALRLKSRAVELLPDGTANLAKLQLVVENSAQRVIHLAGQ    351 - 420
WEKHRVPLLAEYRHLRKLQDCRELESSRRLAEIQELHQSVRAAAEEARRKEEVYKQLMSELETLPRDVSR    421 - 490
LAYTQRILEIVGNIRKQKEEITKILSDTKELQKEINSLSGKLDRTFAVTDELVFKDAKKDDAVRKAYKYL    491 - 560
AALHENCSQLIQTIEDTGTIMREVRDLEEQIETELGKKTLSNLEKIREDYRALRQENAGLLGRVREA       561 - 627
//

Text Mined References (23)

PMID Year Title