Property Summary

NCBI Gene PubMed Count 39
PubMed Score 39.92
PubTator Score 85.89

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
DiGeorge syndrome 47
Cleft Palate 271
22q11 Deletion Syndrome 10
22q11 partial monosomy syndrome 9
Abnormality of aortic arch 9
Abnormality of pulmonary valve 23
Abnormality of the pharynx 19
Abnormality of the tonsils 10
Acne 52
Arachnodactyly 49
Atrial Septal Defects 85
Attention deficit hyperactivity disorder 278
Blepharoptosis 231
Broad flat nasal bridge 236
Bulbous nasal tip 48
Bulbous nose 48
CONOTRUNCAL ANOMALY FACE SYNDROME 9
Chronic otitis media 52
Cognitive delay 608
Conductive hearing loss 123
Congenital Epicanthus 177
Congenital hypoplasia of kidney 32
Congenital hypoplasia of thymus 15
Constipation 181
Convex nasal bridge 57
Corneal Neovascularization 13
Dental caries 164
Dyschezia 135
Dysphasia 23
Dysseborrheic dermatitis 13
Embryotoxon 28
Global developmental delay 608
Hypernasal voice 39
Hypocalcemia 32
Hypoparathyroidism 41
Hypoplastic lobules 11
Hypotrophic malar bone 129
Immunologic Deficiency Syndromes 113
Impaired T cell function 14
Long face 71
Long philtrum 137
Low set ears 181
Malar flattening 129
Mental and motor retardation 608
Mild Mental Retardation 70
Muscle hypotonia 571
Myalgia 54
Nasal bridge wide 236
Nasal voice 39
Occipital myelomeningocele 8
Overfolded helix 24
Persistant truncus arteriosus 17
Platybasia 13
Posterior embryotoxon 28
Potato nose 48
Prominent nasal bridge 57
Rotting teeth 73
Seborrheic dermatitis 31
Short neck 140
Short stature 531
Shprintzen syndrome 9
Small thymus 13
Specific learning disability 47
Telecanthus 62
Tetany 18
Tetralogy of Fallot 63
Upward slant of palpebral fissure 75
Uranostaphyloschisis 167
Ventricular Septal Defects 119
ear infection chronic 52
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9
Disease Target Count
22q11.2 deletion syndrome 8

Expression

  Differential Expression (11)

Disease log2 FC p
acute quadriplegic myopathy 1.117 8.9e-06
adult high grade glioma -1.300 1.1e-02
aldosterone-producing adenoma -1.121 4.3e-02
atypical teratoid / rhabdoid tumor -2.000 1.3e-04
glioblastoma -1.200 2.5e-03
juvenile dermatomyositis 1.333 3.6e-09
lung adenocarcinoma 1.103 3.3e-03
malignant mesothelioma 2.000 5.6e-08
medulloblastoma, large-cell -1.500 7.3e-05
ovarian cancer -1.900 1.9e-07
psoriasis 1.600 4.3e-05

Protein-protein Interaction (2)

Gene RIF (21)

AA Sequence

MKLLKPTWVNHNGKPIFSVDIHPDGTKFATGGQGQDSGKVVIWNMSPVLQEDDEKDENIPKMLCQMDNHL      1 - 70
ACVNCVRWSNSGMYLASGGDDKLIMVWKRATYIGPSTVFGSSGKLANVEQWRCVSILRNHSGDVMDVAWS     71 - 140
PHDAWLASCSVDNTVVIWNAVKFPEILATLRGHSGLVKGLTWDPVGKYIASQADDRSLKVWRTLDWQLET    141 - 210
SITKPFDECGGTTHVLRLSWSPDGHYLVSAHAMNNSGPTAQIIEREGWKTNMDFVGHRKAVTVVKFNPKI    211 - 280
FKKKQKNGSSAKPSCPYCCCAVGSKDRSLSVWLTCLKRPLVVIHELFDKSIMDISWTLNGLGILVCSMDG    281 - 350
SVAFLDFSQDELGDPLSEEEKSRIHQSTYGKSLAIMTEAQLSTAVIENPEMLKYQRRQQQQQLDQKSAAT    351 - 420
REMGSATSVAGVVNGESLEDIRKNLLKKQVETRTADGRRRITPLCIAQLDTGDFSTAFFNSIPLSGSLAG    421 - 490
TMLSSHSSPQLLPLDSSTPNSFGASKPCTEPVVAASARPAGDSVNKDSMNATSTPAALSPSVLTTPSKIE    491 - 560
PMKAFDSRFTERSKATPGAPALTSMTPTAVERLKEQNLVKELRPRDLLESSSDSDEKVPLAKASSLSKRK    561 - 630
LELEVETVEKKKKGRPRKDSRLMPVSLSVQSPAALTAEKEAMCLSAPALALKLPIPSPQRAFTLQVSSDP    631 - 700
SMYIEVENEVTVVGGVKLSRLKCNREGKEWETVLTSRILTAAGSCDVVCVACEKRMLSVFSTCGRRLLSP    701 - 770
ILLPSPISTLHCTGSYVMALTAAATLSVWDVHRQVVVVKEESLHSILAGSDMTVSQILLTQHGIPVMNLS    771 - 840
DGKAYCFNPSLSTWNLVSDKQDSLAQCADFRSSLPSQDAMLCSGPLAIIQGRTSNSGRQAARLFSVPHVV    841 - 910
QQETTLAYLENQVAAALTLQSSHEYRHWLLVYARYLVNEGFEYRLREICKDLLGPVHYSTGSQWESTVVG    911 - 980
LRKRELLKELLPVIGQNLRFQRLFTECQEQLDILRDK                                     981 - 1017
//

Text Mined References (48)

PMID Year Title