Property Summary

Ligand Count 3
NCBI Gene PubMed Count 157
PubMed Score 282.55
PubTator Score 256.95

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (9)

Disease Target Count
Absent reflex 92
Absent tendon reflex 92
Autosomal recessive predisposition 1442
Axonal degeneration 7
Bell Palsy 58
Blepharoptosis 231
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 1
Centrally nucleated skeletal muscle fibers 10
Chronic progressive external ophthalmoplegia 26
Congenital Structural Myopathy 4
Congenital joint contractures 9
Congenital pes cavus 88
Contracture 96
Contracture of joint 93
Creatine phosphokinase serum increased 110
Death in early childhood 82
Death in infancy 82
Decreased number of large and small myelinated fibers 20
Decreased tendon reflex 122
Distal amyotrophy 51
Distal limb muscle weakness due to peripheral neuropathy 62
Distal muscle weakness 62
Distal sensory impairment 52
Easy fatigability 18
Elevated creatine kinase 110
External Ophthalmoplegia 6
Facial Paresis 59
Facial muscle weakness of muscles innervated by CN VII 58
Flexion contracture 93
Flexion contractures of joints 93
Low Birth Weights 69
Motor delay 147
Muscle hypotonia 571
Myopathy, Centronuclear, Autosomal Dominant 5
No development of motor milestones 147
Onion bulb formation 19
Polyhydramnios 108
Prenatal onset 139
Proximal muscle weakness 47
Proximal neurogenic muscle weakness 47
Reduced fetal movement 51
Reflex, Deep Tendon, Absent 92
Respiratory Insufficiency 132
Respiratory function loss 121
Retinal Hemorrhage 6
Segmental demyelination/remyelination 8
Sleepy facial expression 1
Slow progression 89
Small for gestational age (disorder) 69
Thin rib 21
Tires quickly 18
Disease Target Count P-value
osteosarcoma 7950 1.4e-06
glioblastoma 5792 2.2e-05
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9
Kidney cancer 2613 0.0 0.6
Disease Target Count Z-score Confidence
Cardiovascular system disease 246 0.0 1.7
Disease Target Count Z-score Confidence
Centronuclear myopathy 27 0.0 5.0

Expression

  Differential Expression (2)

Disease log2 FC p
glioblastoma 1.200 2.2e-05
osteosarcoma -1.920 1.4e-06

 GWAS Trait (2)

Protein-protein Interaction (11)

Gene RIF (115)

AA Sequence

MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLI      1 - 70
LQLIFSKTEHAEFLHCKSKKFTDFDEVRQEIEAETDRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGI     71 - 140
TKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMDLANSDALKLAKEVDPQGLRTIGVITKLDLM    141 - 210
DEGTDARDVLENKLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMADRMGTPHLQKT    211 - 280
LNQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYKNFRPDDPTRKTKALLQMVQQFGVDFEKRIEGSGDQ    281 - 350
VDTLELSGGARINRIFHERFPFELVKMEFDEKDLRREISYAIKNIHGVRTGLFTPDLAFEAIVKKQVVKL    351 - 420
KEPCLKCVDLVIQELINTVRQCTSKLSSYPRLREETERIVTTYIREREGRTKDQILLLIDIEQSYINTNH    421 - 490
EDFIGFANAQQRSTQLNKKRAIPNQGEILVIRRGWLTINNISLMKGGSKEYWFVLTAESLSWYKDEEEKE    491 - 560
KKYMLPLDNLKIRDVEKGFMSNKHVFAIFNTEQRNVYKDLRQIELACDSQEDVDSWKASFLRAGVYPEKD    561 - 630
QAENEDGAQENTFSMDPQLERQVETIRNLVDSYVAIINKSIRDLMPKTIMHLMINNTKAFIHHELLAYLY    631 - 700
SSADQSSLMEESADQAQRRDDMLRMYHALKEALNIIGDISTSTVSTPVPPPVDDTWLQSASSHSPTPQRR    701 - 770
PVSSIHPPGRPPAVRGPTPGPPLIPVPVGAAASFSAPPIPSRPGPQSVFANSDLFPAPPQIPSRPVRIPP    771 - 840
GIPPGVPSRRPPAAPSRPTIIRPAEPSLLD                                            841 - 870
//

Text Mined References (167)

PMID Year Title