Property Summary

NCBI Gene PubMed Count 166
PubMed Score 466.17
PubTator Score 277.10

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Hypertrophic Cardiomyopathy 117
Cryptorchidism 296
Abnormal dermatoglyphic pattern 24
Abnormal hair quantity 16
Abnormal platelet function 12
Abnormality of pulmonary valve 23
Abnormality of the spleen 13
Acquired cubitus valgus 18
Acquired scoliosis 281
Adenocarcinoma of lung (disorder) 60
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Aplasia/Hypoplasia of the abdominal wall musculature 17
Big calvaria 147
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
Concave bridge of nose 195
Conduction disorder of the heart 79
Congenital Epicanthus 177
Congenital pectus carinatum 52
Curly hair (finding) 14
Curvature of spine 282
Decreased projection of midface 105
Delayed bone age 136
Depressed nasal bridge 195
Depressed nasal root/bridge 195
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
Fibromatosis, Gingival 8
Full lower lip 64
Gingival Hyperplasia 34
Gingival Hypertrophy 34
Gingival Overgrowth 36
Hemorrhagic Disorders 30
Hepatomegaly 285
Hereditary gingival fibromatosis 8
High anterior hairline 7
High forehead 102
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hypoplastic mandible condyle 275
Hypotrophic midface 105
Idiopathic gingival hyperplasia 8
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Joint hyperflexibility 78
Low posterior hairline 52
Low-set, posteriorly rotated ears 110
Lymphangioma, Cystic 21
Malocclusion 57
Mandibular hypoplasia 275
Micrognathism 275
Midface retrusion 105
Muscle Weakness 170
Muscle hypotonia 571
Neck webbing 35
Orbital separation excessive 244
Pectus excavatum 100
Pectus excavatum inferiorly 5
Prominent eyes 96
Prominent globes 96
Prominent lower lip 64
Protruding eyes 96
Pulmonary Stenosis 45
Pulmonary artery stenosis 26
Rough hair texture 31
Short neck 140
Short stature 531
Small midface 105
Sparse eyebrow 42
Strabismus 270
Tall forehead 102
Thickened helices 15
Triangular face 58
Ventricular Septal Defects 119
Wide spaced nipples 46
blue iris (physical finding) 17
Disease Target Count
Gingival fibromatosis 14

Expression

  Differential Expression (7)

Disease log2 FC p
group 3 medulloblastoma 1.100 1.7e-03
hepatocellular carcinoma 1.100 4.4e-06
osteosarcoma 1.680 5.6e-05
ovarian cancer 1.600 3.5e-05
pancreatic cancer 1.200 1.0e-02
primary pancreatic ductal adenocarcinoma 1.243 6.6e-03
tuberculosis and treatment for 6 months -1.200 2.6e-02

Protein-protein Interaction (1)

Gene RIF (85)

AA Sequence

MQAQQLPYEFFSEENAPKWRGLLVPALKKVQGQVHPTLESNDDALQYVEELILQLLNMLCQAQPRSASDV      1 - 70
EERVQKSFPHPIDKWAIADAQSAIEKRKRRNPLSLPVEKIHPLLKEVLGYKIDHQVSVYIVAVLEYISAD     71 - 140
ILKLVGNYVRNIRHYEITKQDIKVAMCADKVLMDMFHQDVEDINILSLTDEEPSTSGEQTYYDLVKAFMA    141 - 210
EIRQYIRELNLIIKVFREPFVSNSKLFSANDVENIFSRIVDIHELSVKLLGHIEDTVEMTDEGSPHPLVG    211 - 280
SCFEDLAEELAFDPYESYARDILRPGFHDRFLSQLSKPGAALYLQSIGEGFKEAVQYVLPRLLLAPVYHC    281 - 350
LHYFELLKQLEEKSEDQEDKECLKQAITALLNVQSGMEKICSKSLAKRRLSESACRFYSQQMKGKQLAIK    351 - 420
KMNEIQKNIDGWEGKDIGQCCNEFIMEGTLTRVGAKHERHIFLFDGLMICCKSNHGQPRLPGASNAEYRL    421 - 490
KEKFFMRKVQINDKDDTNEYKHAFEIILKDENSVIFSAKSAEEKNNWMAALISLQYRSTLERMLDVTMLQ    491 - 560
EEKEEQMRLPSADVYRFAEPDSEENIIFEENMQPKAGIPIIKAGTVIKLIERLTYHMYADPNFVRTFLTT    561 - 630
YRSFCKPQELLSLIIERFEIPEPEPTEADRIAIENGDQPLSAELKRFRKEYIQPVQLRVLNVCRHWVEHH    631 - 700
FYDFERDAYLLQRMEEFIGTVRGKAMKKWVESITKIIQRKKIARDNGPGHNITFQSSPPTVEWHISRPGH    701 - 770
IETFDLLTLHPIEIARQLTLLESDLYRAVQPSELVGSVWTKEDKEINSPNLLKMIRHTTNLTLWFEKCIV    771 - 840
ETENLEERVAVVSRIIEILQVFQELNNFNGVLEVVSAMNSSPVYRLDHTFEQIPSRQKKILEEAHELSED    841 - 910
HYKKYLAKLRSINPPCVPFFGIYLTNILKTEEGNPEVLKRHGKELINFSKRRKVAEITGEIQQYQNQPYC    911 - 980
LRVESDIKRFFENLNPMGNSMEKEFTDYLFNKSLEIEPRNPKPLPRFPKKYSYPLKSPGVRPSNPRPGTM    981 - 1050
RHPTPLQQEPRKISYSRIPESETESTASAPNSPRTPLTPPPASGASSTTDVCSVFDSDHSSPFHSSNDTV   1051 - 1120
FIQVTLPHGPRSASVSSISLTKGTDEVPVPPPVPPRRRPESAPAESSPSKIMSKHLDSPPAIPPRQPTSK   1121 - 1190
AYSPRYSISDRTSISDPPESPPLLPPREPVRTPDVFSSSPLHLQPPPLGKKSDHGNAFFPNSPSPFTPPP   1191 - 1260
PQTPSPHGTRRHLPSPPLTQEVDLHSIAGPPVPPRQSTSQHIPKLPPKTYKREHTHPSMHRDGPPLLENA   1261 - 1330
HSS                                                                      1331 - 1333
//

Text Mined References (176)

PMID Year Title