Property Summary

NCBI Gene PubMed Count 250
PubMed Score 619.83
PubTator Score 543.94

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Abnormality of cardiovascular system morphology 23
Acquired scoliosis 281
Apathy 16
Aplasia/Hypoplasia of the distal phalanx of the 5th finger 5
Big calvaria 147
Broad flat nasal bridge 236
Bushy eyebrows 49
Cerebellar Ataxia 304
Cerebellar hypoplasia and atrophy 41
Choroid Plexus Carcinoma 5
Coarse facial features 108
Cognitive delay 608
Concave bridge of nose 195
Congenital deafness 185
Cryptorchidism 296
Curvature of spine 282
Dandy-Walker Syndrome 39
Deafness 198
Decreased joint mobility 53
Delayed eruption of permanent teeth 8
Dental abnormalities 60
Depressed nasal bridge 195
Depressed nasal ridge 51
Depressed nasal root/bridge 195
Disturbance of consciousness 12
Dull intelligence 645
Epilepsy 792
Feeding difficulties 127
Feeding difficulties in infancy 175
Fetal Growth Retardation 189
Full lower lip 64
Generalized hirsutism 36
Global developmental delay 608
Hearing Loss, Partial 185
Hemiplegia and hemiparesis 38
Hydrocephalus 152
Hypoplastic fifth fingernail 5
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intermittent migraine headaches 68
Intrauterine retardation 176
Irritation - emotion 68
Joint hyperflexibility 78
Long eyelashes 37
Low intelligence 645
Macrostomia 72
Malignant neoplasm of central nervous system 1
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Migraine Disorders 76
Muscle Weakness 170
Muscle hypotonia 571
Nasal bridge wide 236
Nausea and vomiting 97
Neurofibromatosis 3 4
Nystagmus 317
Patella aplasia-hypoplasia 12
Poor school performance 645
Prominent lower lip 64
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 1
Recurrent respiratory infections 141
Seizures 596
Short distal phalanges 50
Short stature 531
Slow-growing hair 19
Small head 374
Sparse hair 59
Strabismus 270
Thickened facial skin with coarse facial features 108
Thin, sparse hair 59
Tooth Abnormalities 69
hearing impairment 199
medulloblastoma 720
Disease Target Count Z-score Confidence
Neurilemmomatosis 5 0.0 5.0
Disease Target Count Z-score Confidence
Cancer 2499 5.17 2.6
Hypotrichosis 47 0.0 4.0
Disease Target Count Z-score Confidence
Neurilemmoma 23 5.679 2.8
Neurofibromatosis 40 3.819 1.9
Myoepithelioma 13 3.462 1.7

Expression

  Differential Expression (10)

Disease log2 FC p
atypical teratoid/rhabdoid tumor -1.300 5.6e-04
ependymoma 1.100 7.5e-03
group 3 medulloblastoma 1.100 1.1e-02
lung cancer 1.500 1.1e-03
malignant mesothelioma 1.500 4.0e-06
medulloblastoma, large-cell 1.100 2.0e-04
oligodendroglioma 1.200 2.5e-03
osteosarcoma 2.347 1.7e-08
ovarian cancer -1.100 3.3e-05
psoriasis -1.900 7.6e-05

Synonym

Accession Q12824 O75784 O95474 Q17S11 Q38GA1 Q76N08 Q9UBH2
Symbols RDT
CSS3
INI1
SNF5
Snr1
BAF47
MRD15
RTPS1
Sfh1p
hSNFS
SNF5L1
SWNTS1
PPP1R144

Gene

Gene RIF (235)

AA Sequence

MMMMALSKTFGQKPVKFQLEDDGEFYMIGSEVGNYLRMFRGSLYKRYPSLWRRLATVEERKKIVASSHGK      1 - 70
KTKPNTKDHGYTTLATSVTLLKASEVEEILDGNDEKYKAVSISTEPPTYLREQKAKRNSQWVPTLPNSSH     71 - 140
HLDAVPCSTTINRNRMGRDKKRTFPLCFDDHDPAVIHENASQPEVLVPIRLDMEIDGQKLRDAFTWNMNE    141 - 210
KLMTPEMFSEILCDDLDLNPLTFVPAIASAIRQQIESYPTDSILEDQSDQRVIIKLNIHVGNISLVDQFE    211 - 280
WDMSEKENSPEKFALKLCSELGLGGEFVTTIAYSIRGQLSWHQKTYAFSENPLPTVEIAIRNTGDADQWC    281 - 350
PLLETLTDAEMEKKIRDQDRNTRRMRRLANTAPAW                                       351 - 385
//

Text Mined References (257)

PMID Year Title