Property Summary

NCBI Gene PubMed Count 70
PubMed Score 527.34
PubTator Score 153.26

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Myopathies, Structural, Congenital 15 0.0 0.0
Disease Target Count
Absent reflex 92
Absent tendon reflex 92
Acquired scoliosis 281
Arachnodactyly 49
Atrioventricular block 35
Atrioventricular nodal disease 10
Bell Palsy 58
Big calvaria 147
Birth length greater than 97th percentile 5
Blepharoptosis 231
Byzanthine arch palate 194
Chronic progressive external ophthalmoplegia 26
Congenital Structural Myopathy 4
Contracture 96
Contracture of joint 93
Cryptorchidism 296
Curvature of spine 282
Decreased liver function 24
Diaphragmatic eventration 11
Electromyogram abnormal 49
Epilepsy 792
External Ophthalmoplegia 6
Facial Paresis 59
Facial muscle weakness of muscles innervated by CN VII 58
Flexion contracture 93
Flexion contractures of joints 93
Gait abnormality 135
Generalized muscle weakness 57
Head tremor 5
Hemangioma, Cavernous 20
Hydrocephalus 152
Hypokinesia 19
Hypotonia, severe 33
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Liver Dysfunction 99
Liver dysfunction, mild 24
Long face 71
Mask-like facies 25
Muscle hypotonia 571
Myotubular Myopathy with Abnormal Genital Development 2
Narrow face 54
Neck muscle weakness 17
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Polyhydramnios 108
Pyloric Stenosis 47
Reduced fetal movement 51
Reflex, Deep Tendon, Absent 92
Respiratory Distress Syndrome 15
Respiratory failure requiring assisted ventilation 1
Seizures 596
Skeletal muscle atrophy 139
Slender toe 2
Thin face 54
X- linked recessive 110
muscle degeneration 139
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.0
Kidney cancer 2613 0.0 0.6
Disease Target Count
X-linked centronuclear myopathy 2

Expression

  Differential Expression (11)

Disease log2 FC p
colon cancer -1.300 5.9e-04
ependymoma 1.200 4.0e-06
group 4 medulloblastoma -1.300 1.2e-03
intraductal papillary-mucinous carcinoma... 1.300 1.0e-02
intraductal papillary-mucinous neoplasm ... 1.200 3.2e-03
lung cancer -2.000 9.7e-04
medulloblastoma, large-cell -1.600 2.2e-04
osteosarcoma -1.510 2.6e-03
psoriasis -1.200 5.6e-04
tuberculosis 1.300 4.2e-06
ulcerative colitis -1.300 3.2e-05

Protein-protein Interaction (3)

Gene RIF (46)

AA Sequence

MASASTSKYNSHSLENESIKRTSRDGVNRDLTEAVPRLPGETLITDKEVIYICPFNGPIKGRVYITNYRL      1 - 70
YLRSLETDSSLILDVPLGVISRIEKMGGATSRGENSYGLDITCKDMRNLRFALKQEGHSRRDMFEILTRY     71 - 140
AFPLAHSLPLFAFLNEEKFNVDGWTVYNPVEEYRRQGLPNHHWRITFINKCYELCDTYPALLVVPYRASD    141 - 210
DDLRRVATFRSRNRIPVLSWIHPENKTVIVRCSQPLVGMSGKRNKDDEKYLDVIRETNKQISKLTIYDAR    211 - 280
PSVNAVANKATGGGYESDDAYHNAELFFLDIHNIHVMRESLKKVKDIVYPNVEESHWLSSLESTHWLEHI    281 - 350
KLVLTGAIQVADKVSSGKSSVLVHCSDGWDRTAQLTSLAMLMLDSFYRSIEGFEILVQKEWISFGHKFAS    351 - 420
RIGHGDKNHTDADRSPIFLQFIDCVWQMSKQFPTAFEFNEQFLIIILDHLYSCRFGTFLFNCESARERQK    421 - 490
VTERTVSLWSLINSNKEKFKNPFYTKEINRVLYPVASMRHLELWVNYYIRWNPRIKQQQPNPVEQRYMEL    491 - 560
LALRDEYIKRLEELQLANSAKLSDPPTSPSSPSQMMPHVQTHF                               561 - 603
//

Text Mined References (77)

PMID Year Title