Property Summary

NCBI Gene PubMed Count 9
PubMed Score 9.85
PubTator Score 14.34

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Melanoma 711 0.0 0.0
Disease Target Count
Abnormal dermatoglyphic pattern 24
Abnormal hair quantity 16
Abnormal platelet function 12
Abnormality of pulmonary valve 23
Abnormality of the spleen 13
Acquired scoliosis 281
Aplasia/Hypoplasia of the abdominal wall musculature 17
Bleeding tendency 37
Blepharoptosis 231
Blood Coagulation Disorders 42
Byzanthine arch palate 194
Cardiac Arrhythmia 103
Cardiac conduction abnormalities 78
Coagulation abnormalities 27
Coarse hair 31
Conduction disorder of the heart 79
Congenital pectus carinatum 52
Cryptorchidism 296
Curvature of spine 282
Decreased projection of midface 105
Delayed bone age 136
Downward slant of palpebral fissure 158
Dysarthria 192
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Enlarged thorax 18
Excess nuchal skin 30
Exophthalmos 112
Feeding difficulties in infancy 175
Full lower lip 64
Hemorrhagic Disorders 30
Hepatomegaly 285
High forehead 102
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hypoplastic mandible condyle 275
Hypotrophic midface 105
Joint hyperflexibility 78
Low posterior hairline 52
Low-set, posteriorly rotated ears 110
Lymphangioma, Cystic 21
Mandibular hypoplasia 275
Micrognathism 275
Midface retrusion 105
Muscle Weakness 170
Muscle hypotonia 571
Neck webbing 35
Orbital separation excessive 244
Pectus excavatum 100
Prominent eyes 96
Prominent globes 96
Prominent lower lip 64
Protruding eyes 96
Pulmonary artery stenosis 26
Rough hair texture 31
Short stature 531
Small midface 105
Strabismus 270
Tall forehead 102
Thickened helices 15
Triangular face 58
Wide spaced nipples 46
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9
Disease Target Count Z-score Confidence
Peripheral vascular disease 87 0.0 3.0
Disease Target Count
Noonan syndrome 34

Expression

  Differential Expression (15)

Disease log2 FC p
cystic fibrosis 1.060 2.6e-04
Duchenne muscular dystrophy 1.024 3.8e-04
gastric carcinoma 1.100 5.2e-03
Gaucher disease type 1 -1.300 3.9e-02
intraductal papillary-mucinous neoplasm ... 2.000 1.1e-02
juvenile dermatomyositis 1.536 1.1e-10
medulloblastoma, large-cell -1.200 2.4e-04
osteosarcoma 2.193 1.9e-05
pancreatic cancer 1.300 1.4e-02
pancreatic ductal adenocarcinoma liver m... 1.568 1.0e-02
Pick disease 1.200 2.9e-04
primitive neuroectodermal tumor 1.300 6.0e-04
psoriasis -1.400 7.5e-04
Rheumatoid arthritis 1.300 3.9e-02
ulcerative colitis 1.100 4.9e-06

Gene RIF (2)

AA Sequence

MAAAAPAAAAASSEAPAASATAEPEAGDQDSREVRVLQSLRGKICEAKNLLPYLGPHKMRDCFCTINLDQ      1 - 70
EEVYRTQVVEKSLSPFFSEEFYFEIPRTFQYLSFYVYDKNVLQRDLRIGKVAIKKEDLCNHSGKETWFSL     71 - 140
QPVDSNSEVQGKVHLELKLNELITENGTVCQQLVVHIKACHGLPLINGQSCDPYATVSLVGPSRNDQKKT    141 - 210
KVKKKTSNPQFNEIFYFEVTRSSSYTRKSQFQVEEEDIEKLEIRIDLWNNGNLVQDVFLGEIKVPVNVLR    211 - 280
TDSSHQAWYLLQPRDNGNKSSKTDDLGSLRLNICYTEDYVLPSEYYGPLKTLLLKSPDVQPISASAAYIL    281 - 350
SEICRDKNDAVLPLVRLLLHHDKLVPFATAVAELDLKDTQDANTIFRGNSLATRCLDEMMKIVGGHYLKV    351 - 420
TLKPILDEICDSSKSCEIDPIKLKEGDNVENNKENLRYYVDKLFNTIVKSSMSCPTVMCDIFYSLRQMAT    421 - 490
QRFPNDPHVQYSAVSSFVFLRFFAVAVVSPHTFHLRPHHPDAQTIRTLTLISKTIQTLGSWGSLSKSKSS    491 - 560
FKETFMCEFFKMFQEEGYIIAVKKFLDEISSTETKESSGTSEPVHLKEGEMYKRAQGRTRIGKKNFKKRW    561 - 630
FCLTSRELTYHKQPGSKDAIYTIPVKNILAVEKLEESSFNKKNMFQVIHTEKPLYVQANNCVEANEWIDV    631 - 700
LCRVSRCNQNRLSFYHPSVYLNGNWLCCQETGENTLGCKPCTAGVPADIQIDIDEDRETERIYSLFTLSL    701 - 770
LKLQKMEEACGTIAVYQGPQKEPDDYSNFVIEDSVTTFKTIQQIKSIIEKLDEPHEKYRKKRSSSAKYGS    771 - 840
KENPIVGKAS                                                                841 - 850
//

Text Mined References (13)

PMID Year Title