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 15
Abnormality of the fontanelles or cranial sutures 2
Abnormality of the mitral valve 3
Abnormality of the tricuspid valve 2
Acquired scoliosis 274
Aortic valve stenosis 27
Atrial Septal Defects 81
Big calvaria 147
Broad flat nasal bridge 232
Broad forehead 58
Broad hallux 29
Broad neck 4
Cerebellar Hypoplasia 61
Cerebellar hypoplasia and atrophy 39
Cleft Palate 265
Cognitive delay 596
Concave bridge of nose 191
Congenital Camptodactyly 39
Congenital clinodactyly 57
Cryptorchidism 287
Curvature of digit 57
Curvature of spine 275
Dandy-Walker Syndrome 35
Death in early childhood 82
Death in infancy 82
Depressed nasal bridge 191
Depressed nasal root/bridge 191
Downward slant of palpebral fissure 158
Dull intelligence 634
Endocardial Cushion Defects 15
Frontal bossing 154
Global developmental delay 596
High, narrow palate 32
Hydrocephalus 148
Hyperkyphosis 109
Hypoplastic Left Heart Syndrome 14
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Intellectual disability 998
Kyphosis deformity of spine 112
Low intelligence 634
Low posterior hairline 52
Low set ears 178
Mental Retardation 634
Mental and motor retardation 596
Mental deficiency 634
Muscle hypotonia 562
Nasal bridge wide 232
Orbital separation excessive 240
Overriding toe 10
Patent ductus arteriosus 86
Poor school performance 634
Poor speech 37
Problems speaking 37
Prominent back of the head 21
Prominent occiput 21
Protrusion of tongue 11
Pulmonary Stenosis 44
Recurrent respiratory infections 138
Short distal phalanges 49
Short nose 127
Short philtrum 51
Short stature 514
Small nose 127
Speech Disorders 56
Syndactyly 88
Tetralogy of Fallot 66
Upward slant of palpebral fissure 74
Uranostaphyloschisis 162
Ventricular Septal Defects 113
X- linked recessive 106
Disease Target Count P-value
osteosarcoma 7766 3.2e-05
gastric carcinoma 781 4.2e-02
Disease Target Count Z-score Confidence
Carcinoma 11192 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