Property Summary

NCBI Gene PubMed Count 239
PubMed Score 417.63
PubTator Score 326.20

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Hypertrophic Cardiomyopathy 117
Abnormality of metabolism/homeostasis 134
Acquired scoliosis 281
Amyotrophy of ankle musculature 1
Asymmetric Septal Hypertrophy 7
Atrial Fibrillation 124
Atrial Septal Defects 85
Autosomal recessive predisposition 1442
Bell Palsy 58
Blepharoptosis 231
Bulbar palsy 19
Bulbar weakness 19
Byzanthine arch palate 194
Calf muscle pseudohypertrophy 5
Cardiac Arrhythmia 103
Cardiac conduction abnormalities 78
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 7
Cardiovascular Abnormalities 31
Cardiovascular Diseases 59
Centrally nucleated skeletal muscle fibers 10
Chest Pain 38
Childhood onset 38
Conduction disorder of the heart 79
Congenital pes cavus 88
Congestive heart failure 113
Creatine phosphokinase serum increased 110
Curvature of spine 282
Decreased vital capacity 2
Deglutition Disorders 132
Distal Muscular Dystrophies 3
Distal limb muscle weakness due to peripheral neuropathy 62
Distal muscle weakness 62
EKG abnormalities 78
EMG: myopathic abnormalities 22
EMG: neuropathic changes 15
Eichsfeld type congenital muscular dystrophy 4
Electrocardiogram abnormal 81
Electrocardiogram change 78
Elevated creatine kinase 110
Facial Paresis 59
Facial muscle weakness of muscles innervated by CN VII 58
Failure to gain weight 365
Fatigue 182
Feeding difficulties 127
Gait abnormality 135
Generalized limb muscle atrophy 2
Generalized muscle weakness 57
Heart failure 162
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Highly variable severity 157
Imperforate tricuspid valve 1
Infantile onset 238
LEFT VENTRICULAR NONCOMPACTION 10 40
LEFT VENTRICULAR NONCOMPACTION 8 40
Long face 71
Lumbar lordosis 35
MYOPATHY, MYOSIN STORAGE (disorder) 1
Mildly increased creatine kinase 20
Myalgia 54
Narrow face 54
Neck muscle weakness 17
Neonatal Hypotonia 64
Patent ductus arteriosus 90
Pediatric failure to thrive 365
Phenotypic variability 150
Premature Birth 77
Premature birth of newborn 67
Prenatal onset 139
Proximal muscle weakness 47
Proximal neurogenic muscle weakness 47
Ragged-red fibers 21
Reduced fetal movement 51
Reduced vital capacity 2
Respiratory Insufficiency 132
Respiratory function loss 121
Respiratory insufficiency due to muscle weakness 37
Right bundle branch block 17
Scapular weakness 23
Scapuloperoneal atrophy 1
Scapuloperoneal myopathy 6
Scapuloperoneal weakness 3
Slow progression 89
Subaortic stenosis 9
Sudden death 16
Thin face 54
Toe extensor amyotrophy 1
Type 1 fibers relatively smaller than type 2 fibers 5
Type 1 muscle fiber predominance 10
Variable expressivity 157
Waddling gait 34
Weak cry 17
Weakness of facial musculature 1
Weakness of long finger extensor muscles 1
Welander Distal Myopathy 2
Winged scapula 23
X-Linked Emery-Dreifuss Muscular Dystrophy 3
Disease Target Count P-value
psoriasis 6694 6.7e-20
posterior fossa group B ependymoma 416 1.6e-09
acute quadriplegic myopathy 1158 2.8e-08
Disease Target Count Z-score Confidence
Cardiomyopathy 116 0.0 4.0

Expression

  Differential Expression (3)

Disease log2 FC p
acute quadriplegic myopathy -1.710 2.8e-08
posterior fossa group B ependymoma 1.300 1.6e-09
psoriasis -2.400 6.7e-20

Gene RIF (157)

AA Sequence

MGDSEMAVFGAAAPYLRKSEKERLEAQTRPFDLKKDVFVPDDKQEFVKAKIVSREGGKVTAETEYGKTVT      1 - 70
VKEDQVMQQNPPKFDKIEDMAMLTFLHEPAVLYNLKDRYGSWMIYTYSGLFCVTVNPYKWLPVYTPEVVA     71 - 140
AYRGKKRSEAPPHIFSISDNAYQYMLTDRENQSILITGESGAGKTVNTKRVIQYFAVIAAIGDRSKKDQS    141 - 210
PGKGTLEDQIIQANPALEAFGNAKTVRNDNSSRFGKFIRIHFGATGKLASADIETYLLEKSRVIFQLKAE    211 - 280
RDYHIFYQILSNKKPELLDMLLITNNPYDYAFISQGETTVASIDDAEELMATDNAFDVLGFTSEEKNSMY    281 - 350
KLTGAIMHFGNMKFKLKQREEQAEPDGTEEADKSAYLMGLNSADLLKGLCHPRVKVGNEYVTKGQNVQQV    351 - 420
IYATGALAKAVYERMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSFEQLCINFTNEKLQQFFN    421 - 490
HHMFVLEQEEYKKEGIEWTFIDFGMDLQACIDLIEKPMGIMSILEEECMFPKATDMTFKAKLFDNHLGKS    491 - 560
ANFQKPRNIKGKPEAHFSLIHYAGIVDYNIIGWLQKNKDPLNETVVGLYQKSSLKLLSTLFANYAGADAP    561 - 630
IEKGKGKAKKGSSFQTVSALHRENLNKLMTNLRSTHPHFVRCIIPNETKSPGVMDNPLVMHQLRCNGVLE    631 - 700
GIRICRKGFPNRILYGDFRQRYRILNPAAIPEGQFIDSRKGAEKLLSSLDIDHNQYKFGHTKVFFKAGLL    701 - 770
GLLEEMRDERLSRIITRIQAQSRGVLARMEYKKLLERRDSLLVIQWNIRAFMGVKNWPWMKLYFKIKPLL    771 - 840
KSAEREKEMASMKEEFTRLKEALEKSEARRKELEEKMVSLLQEKNDLQLQVQAEQDNLADAEERCDQLIK    841 - 910
NKIQLEAKVKEMNERLEDEEEMNAELTAKKRKLEDECSELKRDIDDLELTLAKVEKEKHATENKVKNLTE    911 - 980
EMAGLDEIIAKLTKEKKALQEAHQQALDDLQAEEDKVNTLTKAKVKLEQQVDDLEGSLEQEKKVRMDLER    981 - 1050
AKRKLEGDLKLTQESIMDLENDKQQLDERLKKKDFELNALNARIEDEQALGSQLQKKLKELQARIEELEE   1051 - 1120
ELEAERTARAKVEKLRSDLSRELEEISERLEEAGGATSVQIEMNKKREAEFQKMRRDLEEATLQHEATAA   1121 - 1190
ALRKKHADSVAELGEQIDNLQRVKQKLEKEKSEFKLELDDVTSNMEQIIKAKANLEKMCRTLEDQMNEHR   1191 - 1260
SKAEETQRSVNDLTSQRAKLQTENGELSRQLDEKEALISQLTRGKLTYTQQLEDLKRQLEEEVKAKNALA   1261 - 1330
HALQSARHDCDLLREQYEEETEAKAELQRVLSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQEA   1331 - 1400
EEAVEAVNAKCSSLEKTKHRLQNEIEDLMVDVERSNAAAAALDKKQRNFDKILAEWKQKYEESQSELESS   1401 - 1470
QKEARSLSTELFKLKNAYEESLEHLETFKRENKNLQEEISDLTEQLGSSGKTIHELEKVRKQLEAEKMEL   1471 - 1540
QSALEEAEASLEHEEGKILRAQLEFNQIKAEIERKLAEKDEEMEQAKRNHLRVVDSLQTSLDAETRSRNE   1541 - 1610
ALRVKKKMEGDLNEMEIQLSHANRMAAEAQKQVKSLQSLLKDTQIQLDDAVRANDDLKENIAIVERRNNL   1611 - 1680
LQAELEELRAVVEQTERSRKLAEQELIETSERVQLLHSQNTSLINQKKKMDADLSQLQTEVEEAVQECRN   1681 - 1750
AEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHRLDEAEQIALKGGKKQLQKLEARVR   1751 - 1820
ELENELEAEQKRNAESVKGMRKSERRIKELTYQTEEDRKNLLRLQDLVDKLQLKVKAYKRQAEEAEEQAN   1821 - 1890
TNLSKFRKVQHELDEAEERADIAESQVNKLRAKSRDIGTKGLNEE                            1891 - 1935
//

Text Mined References (252)

PMID Year Title