Property Summary

Ligand Count 1,366
NCBI Gene PubMed Count 1,131
PubMed Score 1076.78
PubTator Score 1264.03

Knowledge Summary

Patent (139,462)

TINX Plot

  Disease (9)

Disease Target Count
Abdominal Pain 98
Abnormality of cardiovascular system morphology 23
Abnormality of metabolism/homeostasis 134
Abnormality of the penis 7
Abnormally small eyeball 97
Acquired scoliosis 281
Action Tremor 22
Adenocarcinoma of lung (disorder) 60
Adenoid Cystic Carcinoma 99
Adult onset 82
Angioid streaks 11
Anxiety 136
Anxiety disease 113
Asymmetric growth 5
Attention deficit hyperactivity disorder 278
Autosomal recessive predisposition 1442
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 13
Big calvaria 147
Broad forehead 59
Bronchioloalveolar Adenocarcinoma 14
Byzanthine arch palate 194
Cardiovascular Abnormalities 31
Cardiovascular Diseases 59
Cataract 297
Cerebellar Ataxia 304
Cerebellar hypoplasia and atrophy 41
Chubby cheeks 50
Cognitive delay 608
Colon diverticulum anatomic structure 15
Colorectal cancer 25
Concave bridge of nose 195
Congenital Epicanthus 177
Congenital abnormality of vein 3
Congenital arteriovenous malformation 8
Congenital deafness 185
Congenital hemihypertrophy 6
Congenital macrodactylia 4
Conjunctival hamartoma 7
Constipation 181
Curvature of spine 282
Cutis marmorata 32
Deafness 198
Death in early adulthood 24
Death in early childhood 82
Death in infancy 82
Decreased projection of maxilla 66
Decreased size of eyeball 97
Deficiency of upper jaw bones 66
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Depressive disorder 409
Diffuse large B-cell lymphoma 39
Dilated ventricles (finding) 121
Diverticular disease of colon 15
Downward slant of palpebral fissure 158
Dull intelligence 645
Dyschezia 135
Dysgerminoma 11
Enlargement of skull bones 7
Epilepsy 792
Excessive growth of skull bones 7
Facial asymmetry 32
Failure to gain weight 365
Fatigue 182
Fetal Alcohol Spectrum Disorders 13
Fetal alcohol syndrome 22
Fetal overgrowth 16
Fibroadenoma of breast 3
Fibrous skin tumor of tuberous sclerosis 18
Fissured tongue 25
Fleshy earlobes 8
Frontal bossing 157
Full cheeks 50
Gastrointestinal Hemorrhage 52
Gastrointestinal hamartomatous polyps 10
Generalized overgrowth 16
Global developmental delay 608
Goiter 38
Gynecomastia 64
Hamartoma Syndrome, Multiple 10
Hamartomatous polyp 10
Hand polydactyly 11
Hearing Loss, Partial 185
Hemangioma, Cavernous 20
Hematologic Neoplasms 22
Hemimegalencephaly 5
Hereditary Nonpolyposis Colorectal Cancer 11
Hereditary nonpolyposis colorectal carcinoma 18
Hernia 9
High forehead 102
Hydrocephalus 152
Hyperkeratosis, generalized 14
Hyperkyphosis 111
Hyperostosis of cranial vault 7
Hyperpigmented macules 42
Hyperplasia of cheeks 50
Hyperthyroidism 53
Hypertrophy of cheeks 50
Hypertrophy of cranial bones 7
Hypoplasia of the maxilla 66
Hypoplastic mandible condyle 275
Hypothyroidism 122
Hypotrophic maxilla 66
Impaired cognition 96
Increased gastric cancer 21
Increased head circumference 147
Increased hepatocellular carcinoma risk 27
Increased incidence of hepatocellular carcinoma 27
Increased size of cranium 147
Increased size of skull 147
Intellectual disability 1016
Intermittent migraine headaches 68
Intracranial hypertension 32
Irritation - emotion 68
Isolated cases 72
Joint hyperflexibility 78
Joint laxity 54
Kyphosis deformity of spine 114
Leiomyosarcoma of uterus 13
Lens Opacities 231
Leukemia 104
Lipoma 32
Liver carcinoma 240
Low intelligence 645
Macrocephaly 11
Macroglossia 65
Macrostomia 72
Macule 19
Malabsorption 82
Malignant neoplasm of breast 15
Malignant neoplasm of ovary 4
Malignant tumor of colon 19
Mammary Neoplasms 425
Mandibular hypoplasia 275
Maxillary retrognathia 66
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome 4
Megalencephaly cutis marmorata telangiectatica congenita 1
Melanocytic nevus 43
Meningioma 41
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental impairment 95
Micrognathism 275
Micronodular cirrhosis 12
Microphthalmos 100
Microstomia 78
Migraine Disorders 76
Mucosal telangiectasiae 14
Multiple, subcutaneous nodules 53
Muscle Hypertonia 88
Muscle hypotonia 571
Myopia 176
NEVUS, EPIDERMAL (disorder) 5
Nausea and vomiting 97
Nephroblastoma 51
Noncancerous mole 28
Numerous nevi 5
Orbital separation excessive 244
Ovarian Cysts 41
Ovarian papillary adenocarcinoma 5
Overgrowth 16
Palmoplantar keratosis 74
Papilloma 44
Papule 43
Pectus excavatum 100
Pediatric failure to thrive 365
Persistent cavum septum pellucidum 10
Polydactyly 107
Polydactyly of toes 12
Polymicrogyria 48
Polyp of large intestine 8
Poor school performance 645
Port-Wine Stain 8
Progressive macrocephaly 18
Puffy cheeks 50
Rectal Neoplasms 18
Retrusion of upper jaw bones 66
Sandal gap 24
Schizophrenia 1160
Sebaceous adenoma 26
Seborrheic keratosis 8
Seizures 596
Skin tag 14
Smooth philtrum 43
Somatic mutation 61
Splenomegaly 190
Squamous cell carcinoma of the head and neck 29
Stomach Carcinoma 11
Subacute progressive viral hepatitis 9
Subcutaneous lipomas 9
Subcutaneous nodule 53
Syndactyly 88
Syndactyly of fingers 48
Syndactyly of the toes 45
Tall forehead 102
Telangiectasia of the skin 39
Terminal tremor 20
Testicular Hydrocele 8
Thick skull bones 7
Thyroid Gland Follicular Adenoma 9
Thyroiditis 29
Transitional cell carcinoma of bladder 17
Varicocele 26
Ventricular Septal Defects 119
Visceral angiomatosis 13
Warts 10
Weight decreased 103
breast carcinoma 1638
glioblastoma 5792
hearing impairment 199
Disease Target Count
follicular lymphoma 20
Disease Target Count Z-score Confidence
Cancer 2499 6.442 3.2
Disease Target Count Z-score Confidence
Proteus syndrome 6 3.953 2.0
Adenoma 167 3.17 1.6
Endometriosis 540 3.169 1.6

Expression

  Differential Expression (6)

Disease log2 FC p
atypical teratoid / rhabdoid tumor -1.200 9.2e-07
ductal carcinoma in situ -1.200 4.4e-05
invasive ductal carcinoma -1.500 1.4e-04
juvenile dermatomyositis 1.168 3.2e-08
medulloblastoma, large-cell -1.200 5.0e-05
psoriasis -1.500 1.2e-04

Protein-protein Interaction (1)

PDB (41)

Gene RIF (1162)

AA Sequence

MPPRPSSGELWGIHLMPPRILVECLLPNGMIVTLECLREATLITIKHELFKEARKYPLHQLLQDESSYIF      1 - 70
VSVTQEAEREEFFDETRRLCDLRLFQPFLKVIEPVGNREEKILNREIGFAIGMPVCEFDMVKDPEVQDFR     71 - 140
RNILNVCKEAVDLRDLNSPHSRAMYVYPPNVESSPELPKHIYNKLDKGQIIVVIWVIVSPNNDKQKYTLK    141 - 210
INHDCVPEQVIAEAIRKKTRSMLLSSEQLKLCVLEYQGKYILKVCGCDEYFLEKYPLSQYKYIRSCIMLG    211 - 280
RMPNLMLMAKESLYSQLPMDCFTMPSYSRRISTATPYMNGETSTKSLWVINSALRIKILCATYVNVNIRD    281 - 350
IDKIYVRTGIYHGGEPLCDNVNTQRVPCSNPRWNEWLNYDIYIPDLPRAARLCLSICSVKGRKGAKEEHC    351 - 420
PLAWGNINLFDYTDTLVSGKMALNLWPVPHGLEDLLNPIGVTGSNPNKETPCLELEFDWFSSVVKFPDMS    421 - 490
VIEEHANWSVSREAGFSYSHAGLSNRLARDNELRENDKEQLKAISTRDPLSEITEQEKDFLWSHRHYCVT    491 - 560
IPEILPKLLLSVKWNSRDEVAQMYCLVKDWPPIKPEQAMELLDCNYPDPMVRGFAVRCLEKYLTDDKLSQ    561 - 630
YLIQLVQVLKYEQYLDNLLVRFLLKKALTNQRIGHFFFWHLKSEMHNKTVSQRFGLLLESYCRACGMYLK    631 - 700
HLNRQVEAMEKLINLTDILKQEKKDETQKVQMKFLVEQMRRPDFMDALQGFLSPLNPAHQLGNLRLEECR    701 - 770
IMSSAKRPLWLNWENPDIMSELLFQNNEIIFKNGDDLRQDMLTLQIIRIMENIWQNQGLDLRMLPYGCLS    771 - 840
IGDCVGLIEVVRNSHTIMQIQCKGGLKGALQFNSHTLHQWLKDKNKGEIYDAAIDLFTRSCAGYCVATFI    841 - 910
LGIGDRHNSNIMVKDDGQLFHIDFGHFLDHKKKKFGYKRERVPFVLTQDFLIVISKGAQECTKTREFERF    911 - 980
QEMCYKAYLAIRQHANLFINLFSMMLGSGMPELQSFDDIAYIRKTLALDKTEQEALEYFMKQMNDAHHGG    981 - 1050
WTTKMDWIFHTIKQHALN                                                       1051 - 1068
//

Text Mined References (1132)

PMID Year Title