Property Summary

Ligand Count 1
NCBI Gene PubMed Count 480
PubMed Score 316.35
PubTator Score 383.97

Knowledge Summary

Patent (46,106)

TINX Plot

  Disease (6)

Disease Target Count
ACTIVATED PI3K-DELTA SYNDROME 2
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE 8
Abnormality of the immune system 18
Agammaglobulinemia 34
Alcoholic Intoxication, Chronic 289
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Animal Mammary Neoplasms 136
Arthritis 290
Autosomal recessive predisposition 1442
Birth length less than 3rd percentile 6
Broad flat nasal bridge 236
Bulging forehead 66
CLEFT CHIN 9
Cataract 297
Chronic otitis media 52
Congenital clinodactyly 57
Congenital keratoglobus 14
Conjunctivitis 53
Conjunctivitis, recurrent 37
Corneal diameter increased 13
Coughing 25
Curvature of digit 57
Decreased antibody level in blood 35
Delayed bone age 136
Delayed speech and language development 112
Diarrhea 253
Enlarged epiphyses 4
Enophthalmos 75
Exanthema 43
Failure to gain weight 365
Fatigue 182
Fetal Growth Retardation 189
Fever 138
Frontal bossing 157
Glaucoma 239
Hernia, Inguinal 89
Hyperglycemia 137
Hypodontia 81
Hypogammaglobulinemia 35
Hypoplastic mandible condyle 275
Immunologic Deficiency Syndromes 113
Impaired glucose tolerance 28
Increased susceptibility to bacterial infections 42
Infant, Small for Gestational Age 176
Infantile onset 238
Infection of bone 19
Insulin resistant diabetes 13
Intrauterine retardation 176
Joint laxity 54
Language Delay 112
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Late tooth eruption 61
Lens Opacities 231
Lipoatrophy 19
Lipodystrophy 40
Low Birth Weights 69
Macrotia 87
Malocclusion 57
Mandibular hypoplasia 275
Micrognathism 275
Myopia 176
Nasal bridge wide 236
Neutrophil count decreased 47
Osteomyelitis 42
Paranasal Sinus Diseases 34
Pediatric failure to thrive 365
Prominent forehead 66
Prone to bacterial infection 42
Radially deviated fingers 38
Recurrent bacterial infection 42
Recurrent respiratory infections 141
Recurrent skin infections 21
Rieger syndrome 8
Sensorineural Hearing Loss (disorder) 284
Sinusitis 65
Skin Wrinkling 7
Small for gestational age (disorder) 69
Speech Delay 112
Speech impairment 112
Sunken eyes 63
Telecanthus 62
Thin hypoplastic alae nasi 51
Thin skin 47
Triangular face 58
ear infection chronic 52
Disease Target Count Z-score Confidence
DOID:2627 94 0.0 0.9
Endometrial cancer 311 0.0 1.1
Kidney cancer 2613 0.0 1.1
Disease Target Count Z-score Confidence
Cancer 2499 4.095 2.0
diabetes mellitus 1728 3.355 1.7
Disease Target Count
Agammaglobulinemia, non-Bruton type 8

Expression

  Differential Expression (29)

Disease log2 FC p
Breast cancer -1.700 3.8e-12
atypical teratoid / rhabdoid tumor -2.900 1.4e-07
breast carcinoma -1.600 3.7e-06
cystic fibrosis -1.100 4.1e-03
dermatomyositis 1.100 1.1e-02
ductal carcinoma in situ -1.500 6.2e-04
Gaucher disease type 1 -1.400 1.8e-02
glioblastoma -1.100 1.2e-02
group 3 medulloblastoma -1.300 2.4e-02
interstitial cystitis -1.100 7.6e-04
invasive ductal carcinoma -2.300 8.4e-05
juvenile dermatomyositis 1.056 2.0e-05
lung adenocarcinoma -2.400 1.3e-20
lung cancer -2.200 2.0e-04
medulloblastoma, large-cell -2.300 3.2e-04
non-small cell lung cancer -1.189 2.1e-12
oligodendroglioma 1.200 8.0e-03
osteosarcoma 1.979 2.8e-06
ovarian cancer -2.900 5.4e-10
pancreatic cancer -1.800 1.3e-04
pancreatic carcinoma -1.800 1.3e-04
Parkinson's disease -1.100 3.4e-02
permanent atrial fibrillation -1.400 4.0e-03
Pick disease 1.100 5.7e-04
pituitary cancer -1.300 9.0e-03
primitive neuroectodermal tumor -1.200 5.6e-03
psoriasis -1.300 7.4e-08
Rheumatoid arthritis 1.800 6.0e-03
tuberculosis -1.100 3.5e-03

Protein-protein Interaction (3)

Gene RIF (220)

AA Sequence

MSAEGYQYRALYDYKKEREEDIDLHLGDILTVNKGSLVALGFSDGQEARPEEIGWLNGYNETTGERGDFP      1 - 70
GTYVEYIGRKKISPPTPKPRPPRPLPVAPGSSKTEADVEQQALTLPDLAEQFAPPDIAPPLLIKLVEAIE     71 - 140
KKGLECSTLYRTQSSSNLAELRQLLDCDTPSVDLEMIDVHVLADAFKRYLLDLPNPVIPAAVYSEMISLA    141 - 210
PEVQSSEEYIQLLKKLIRSPSIPHQYWLTLQYLLKHFFKLSQTSSKNLLNARVLSEIFSPMLFRFSAASS    211 - 280
DNTENLIKVIEILISTEWNERQPAPALPPKPPKPTTVANNGMNNNMSLQDAEWYWGDISREEVNEKLRDT    281 - 350
ADGTFLVRDASTKMHGDYTLTLRKGGNNKLIKIFHRDGKYGFSDPLTFSSVVELINHYRNESLAQYNPKL    351 - 420
DVKLLYPVSKYQQDQVVKEDNIEAVGKKLHEYNTQFQEKSREYDRLYEEYTRTSQEIQMKRTAIEAFNET    421 - 490
IKIFEEQCQTQERYSKEYIEKFKREGNEKEIQRIMHNYDKLKSRISEIIDSRRRLEEDLKKQAAEYREID    491 - 560
KRMNSIKPDLIQLRKTRDQYLMWLTQKGVRQKKLNEWLGNENTEDQYSLVEDDEDLPHHDEKTWNVGSSN    561 - 630
RNKAENLLRGKRDGTFLVRESSKQGCYACSVVVDGEVKHCVINKTATGYGFAEPYNLYSSLKELVLHYQH    631 - 700
TSLVQHNDSLNVTLAYPVYAQQRR                                                  701 - 724
//

Text Mined References (503)

PMID Year Title