Property Summary

Ligand Count 1
NCBI Gene PubMed Count 1,970
PubMed Score 6069.88
PubTator Score 6807.74

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count Z-score Confidence
Adenoma 167 6.029 3.0
Noonan syndrome 34 4.579 2.3
Cardiofaciocutaneous syndrome 15 3.856 1.9
Adenocarcinoma 122 0.0 0.0
Adenocarcinoma of lung 142 0.0 0.0
Adenocarcinoma, Follicular 2 0.0 0.0
Anemia 365 0.0 0.0
Arthritis, Juvenile 126 0.0 0.0
Breast Neoplasms 445 0.0 0.0
Carcinogenesis 8 0.0 0.0
Carcinoma 11493 0.0 3.9
Carcinoma, Hepatocellular 228 0.0 0.0
Carcinoma, Non-Small-Cell Lung 107 0.0 0.0
Carcinoma, Pancreatic Ductal 20 0.0 0.0
Carcinoma, Squamous Cell 110 0.0 0.0
Cecal Neoplasms 4 0.0 0.0
Cell Transformation, Neoplastic 97 0.0 0.0
Cholangiocarcinoma 35 0.0 5.0
Colonic Neoplasms 142 0.0 0.0
Colorectal Neoplasms 243 0.0 0.0
Costello Syndrome 17 0.0 0.0
Disease Models, Animal 155 0.0 0.0
Endometriosis 540 0.0 0.0
Gallbladder Neoplasms 10 0.0 0.0
Hemangiosarcoma 18 0.0 0.0
Leukemia, Myeloid, Acute 105 0.0 0.0
Leukemia, Myelomonocytic, Juvenile 20 0.0 0.0
Leukocytosis 17 0.0 0.0
Liver Diseases, Parasitic 9 0.0 0.0
Liver Neoplasms, Experimental 59 0.0 0.0
Liver neoplasms 130 0.0 0.0
Lung Neoplasms 232 0.0 0.0
Lymphoma 81 0.0 0.0
Mouth Neoplasms 55 0.0 0.0
Myelodysplastic Syndromes 26 0.0 0.0
NOONAN SYNDROME 3 1 0.0 0.0
Neoplasm Metastasis 168 0.0 0.0
Neoplasms 63 0.0 0.0
Neoplasms, Experimental 40 0.0 0.0
Neuroblastoma 80 0.0 0.0
Nevus, Sebaceous of Jadassohn 3 0.0 0.0
Ovarian Neoplasms 102 0.0 0.0
Pancreatic Neoplasms 85 0.0 0.0
Penile Neoplasms 4 0.0 0.0
Recurrence 33 0.0 0.0
Splenomegaly 190 0.0 0.0
Stomach Neoplasms 300 0.0 0.0
Thyroid Neoplasms 34 0.0 0.0
Urinary Bladder Neoplasms 114 0.0 0.0
Uterine Neoplasms 9 0.0 0.0
astrocytoma 1146 0.0 0.0
nasopharyngeal carcinoma 1058 0.0 0.0
Disease Target Count
APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS 1
Abdominal Pain 98
Abnormal dermatoglyphic pattern 24
Abnormal hair quantity 16
Abnormal platelet function 12
Abnormality of cranial vault shape 5
Abnormality of cranium shape 5
Abnormality of dental color 5
Abnormality of head shape 5
Abnormality of pulmonary valve 23
Abnormality of the spleen 13
Abnormality of the ulna 10
Abnormality of vision 40
Abnormally small eyeball 97
Absence of eyebrows 31
Absent eyebrow 13
Acquired scoliosis 281
Adenocarcinoma of lung (disorder) 60
Agenesis of eyebrows 13
Alopecia 115
Anteverted nostril 191
Anxiety 136
Anxiety disease 113
Aortic coarctation 30
Aplasia of eyebrows 13
Aplasia/Hypoplasia of the abdominal wall musculature 17
Aplasia/Hypoplasia of the eyebrow 31
Asymmetric growth 5
Asymmetry of head 5
Asymmetry of the posterior cranium 20
Atrial Septal Defects 85
Atrial septal aneurysm 2
Attention deficit hyperactivity disorder 278
Autosomal recessive predisposition 1442
Axonal neuropathy 27
Basal cell carcinoma 54
Basal cell nevi 23
Big calvaria 147
Biparietal narrowing 28
Bladder Neoplasm 112
Bleeding tendency 37
Blepharoptosis 231
Blood Coagulation Disorders 42
Brittle hair 25
Broad forehead 59
Bronchioloalveolar Adenocarcinoma 14
Byzanthine arch palate 194
Cafe au lait spots, multiple 17
Cardiac Arrhythmia 103
Cardiac conduction abnormalities 78
Cardio-facio-cutaneous syndrome 6
Cerebellar hypoplasia and atrophy 41
Chubby cheeks 50
Coagulation abnormalities 27
Coarse facial features 108
Coarse hair 31
Cognitive delay 608
Coloboma of iris 38
Concave bridge of nose 195
Conduction disorder of the heart 79
Congenital Epicanthus 177
Congenital ocular coloboma (disorder) 40
Congenital pectus carinatum 52
Constipation 181
Costello syndrome (disorder) 6
Cranial asymmetry 5
Cryptorchidism 296
Curly hair (finding) 14
Curvature of spine 282
Death in early adulthood 24
Death in early childhood 82
Death in infancy 82
Decreased projection of midface 105
Decreased size of eyeball 97
Decreased to absent deep tendon reflexes 42
Decreased width of the skull 28
Deep palmar crease 8
Defect of vertebral segmentation 17
Delayed bone age 136
Dental abnormalities 60
Depressed cheekbone 22
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Depressive disorder 409
Downward slant of palpebral fissure 158
Dry skin 75
Dull intelligence 645
Dysarthria 192
Dyschezia 135
Dystrophic fingernails 18
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Electroencephalogram abnormal 101
Enlarged thorax 18
Epilepsy 792
Excess nuchal skin 30
Excessive wrinkled skin 16
Exophthalmos 112
Facial asymmetry 32
Failure to thrive in infancy 32
Fatigue 182
Feeding difficulties in infancy 175
Fetal overgrowth 16
Fibrous skin tumor of tuberous sclerosis 18
Fine hair 42
Finger abnormalities 3
Flattening of cranial vault 20
Flattening of head 20
Flattening of the zygomatic bone 22
Follicular thyroid carcinoma 14
Fractured hair 25
Fragile hair 25
Frequent fractures 53
Frontal bossing 157
Full cheeks 50
Full lower lip 64
Gastritis, Atrophic 4
Gastrointestinal Hemorrhage 52
Generalized hyperpigmentation 22
Generalized osteopenia 99
Generalized overgrowth 16
Genu recurvatum 12
Global developmental delay 608
Hemangioma 69
Hemangioma, Cavernous 20
Hemimegalencephaly 5
Hemorrhagic Disorders 30
Hepatomegaly 285
Hereditary Nonpolyposis Colorectal Cancer 11
High forehead 102
Horseshoe Kidney 16
Hyperplasia of cheeks 50
Hyperreflexia 209
Hypertrophy of cheeks 50
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hypophosphatemic Rickets 11
Hypopigmentation disorder 25
Hypoplasia of the zygomatic bone 22
Hypoplastic mandible condyle 275
Hypotrophic cheekbone 22
Hypotrophic midface 105
Ichthyoses 41
Increased fracture rate 53
Increased head circumference 147
Increased risk of pancreatic cancer 9
Increased size of cranium 147
Increased size of skull 147
Intellectual disability 1016
Intermittent migraine headaches 68
Interparietal craniosynostosis 6
Intracranial hypertension 32
Irregular hyperpigmentation 33
Irritation - emotion 68
Isolated cases 72
Joint hyperflexibility 78
Juvenile arthritis 126
Kyphoscoliosis deformity of spine 60
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Leukemia, Myelocytic, Acute 120
Liver carcinoma 240
Long face 71
Long palpebral fissure 17
Long philtrum 137
Low intelligence 645
Low posterior hairline 52
Low set ears 181
Low-set, posteriorly rotated ears 110
Lymphangioma, Cystic 21
Macrotia 87
Madarosis of eyebrow 13
Malabsorption 82
Malformation of cranial vault shape 5
Malformation of cranium shape 5
Malformation of head shape 5
Malignant neoplasm of pancreas 9
Malignant tumor of colon 19
Mammary Neoplasms 425
Mandibular hypoplasia 275
Melanocytic nevus 43
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Micrognathism 275
Microphthalmos 100
Midface retrusion 105
Migraine Disorders 76
Mitral Valve Prolapse Syndrome 39
Multiple lentigines 10
Muscle Hypertonia 88
Muscle Weakness 170
Muscle hypotonia 571
Myopia 176
Nausea and vomiting 97
Neck webbing 35
Neoplastic Cell Transformation 89
Nevus sebaceous 3
Noncancerous mole 28
Nystagmus 317
Orbital separation excessive 244
Osteopenia 99
Overgrowth 16
Palmoplantar keratosis 74
Pancreatic Neoplasm 85
Pancreatic carcinoma, familial 8
Papillary thyroid carcinoma 43
Partial to total absence of eyelashes 7
Pectus excavatum 100
Peripheral axonal neuropathy 18
Pilocytic astrocytoma 56
Plagiocephaly 20
Plagiocephaly, Nonsynostotic 20
Poor school performance 645
Porencephaly 20
Posteriorly rotated ear 61
Premature Birth 77
Premature birth of newborn 67
Prominent back of the head 21
Prominent eyes 96
Prominent globes 96
Prominent lower lip 64
Prominent occiput 21
Protruding eyes 96
Puffy cheeks 50
Pulmonary Stenosis 45
Pulmonary artery stenosis 22
Rectal Neoplasms 18
Reduced tensile strength of hair 25
Rhomboid shaped head 20
Rough hair texture 31
Sebaceous adenoma 26
Seizures 596
Senile lentigo 10
Short neck 140
Short nose 132
Short stature 531
Skin hyperelastic 32
Slow-growing hair 19
Small cheekbone 22
Small midface 105
Small nose 132
Somatic mosaicism 6
Somatic mutation 61
Sparse hair 59
Sparse or absent eyebrows 31
Sparse or absent eyelashes 7
Sparse to absent eyelashes 7
Sparse/absent eyebrows 31
Squamous cell carcinoma 129
Stomach Carcinoma 11
Strabismus 270
Tall forehead 102
Telecanthus 62
Thickened facial skin with coarse facial features 108
Thickened helices 15
Thin, sparse hair 59
Thyroid Neoplasm 37
Toe abnormalities 4
Tooth Abnormalities 69
Transitional cell carcinoma of bladder 17
Triangular face 58
Underdeveloped brows 38
Underdeveloped supraorbital ridges 38
Varying degree of multiple fractures 53
Ventricular Septal Defects 119
Weight decreased 103
Wide spaced nipples 46
Xerosis 75
breast carcinoma 1638
gallbladder neoplasm 10
glioblastoma 5792
non-small cell lung carcinoma 317
ovarian neoplasm 99
Disease Target Count Z-score Confidence
Autoimmune lymphoproliferative syndrome 11 0.0 5.0
Disease Target Count Z-score Confidence
Cancer 2499 7.598 3.8
Cardiomyopathy 116 0.0 4.0

Expression

  Differential Expression (31)

Disease log2 FC p
Breast cancer 2.400 3.7e-02
pancreatic cancer -1.100 9.6e-03
ovarian cancer 1.400 7.4e-03
glioblastoma -1.200 3.6e-03
acute quadriplegic myopathy 1.606 5.7e-07
Amyotrophic lateral sclerosis 1.136 5.7e-06
astrocytic glioma -1.900 3.4e-02
atypical teratoid / rhabdoid tumor -1.300 1.4e-05
autosomal dominant Emery-Dreifuss muscul... 1.019 3.2e-03
Chronic Lymphocytic Leukemia 1.097 6.5e-03
dermatomyositis 1.400 8.1e-04
ependymoma -3.100 4.1e-02
gastric cancer -1.200 7.2e-03
group 4 medulloblastoma -1.200 2.6e-03
intraductal papillary-mucinous adenoma (... 1.200 3.2e-02
intraductal papillary-mucinous carcinoma... 1.200 3.4e-02
intraductal papillary-mucinous neoplasm ... 1.900 1.3e-02
juvenile dermatomyositis 1.365 2.3e-10
lung adenocarcinoma 1.104 3.1e-02
medulloblastoma, large-cell 1.200 9.5e-04
Multiple myeloma 1.371 2.7e-02
oligodendroglioma -1.900 3.6e-02
osteosarcoma -4.044 5.2e-14
pancreatic carcinoma -1.100 9.6e-03
pancreatic ductal adenocarcinoma liver m... -1.127 9.3e-03
Parkinson's disease -1.500 7.9e-03
Pick disease 1.600 5.6e-05
psoriasis -3.800 4.5e-06
Rheumatoid arthritis 1.700 1.4e-03
subependymal giant cell astrocytoma -1.105 1.5e-02
ulcerative colitis -1.111 7.8e-03

PDB (62)

Gene RIF (2008)

AA Sequence

MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQ      1 - 70
YMRTGEGFLCVFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIP     71 - 140
FIETSAKTRQRVEDAFYTLVREIRQYRLKKISKEEKTPGCVKIKKCIIM                         141 - 189
//

Text Mined References (1976)

PMID Year Title