Property Summary

NCBI Gene PubMed Count 32
PubMed Score 54.31
PubTator Score 73.13

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count
Abnormal skeletal development 60
Abnormality of the patella 2
Abnormality of the sacrum 5
Acquired scoliosis 281
Anteverted nostril 191
Big calvaria 147
Broad distal phalanges 2
Carpal bone hypoplasia 6
Carpal calcifications 2
Caudal narrowing of interpedicular distances 1
Cognitive delay 608
Concave bridge of nose 195
Congenital dislocation of radial head 14
Curvature of spine 282
Decreased projection of midface 105
Degenerative polyarthritis 115
Delayed bone maturation of the knee cap 1
Delayed patellar ossification 1
Delayed phalangeal epiphyseal ossification 1
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Enlarged thorax 18
Flat proximal femoral epiphyses 8
Frontal bossing 157
Global developmental delay 608
Hip Dislocation, Congenital 48
Hyperkyphosis 111
Hypotrophic malar bone 129
Hypotrophic midface 105
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Irregular epiphyses 10
Irregular vertebral endplates 16
Joint hyperflexibility 78
Joint laxity 54
Knee joint valgus deformity 56
Kyphosis deformity of spine 114
Laryngostenosis 10
Laryngotracheomalacia 1
Long distal phalanx of finger 1
Long proximal phalanx of finger 1
Malar flattening 129
Mental and motor retardation 608
Metaphyseal irregularity 23
Micromelia 58
Midface retrusion 105
Muscle hypotonia 571
Nail dysplasia 52
Narrow femoral necks 2
Neural Tube Defects 31
Osteochondrodysplasias 72
Platyspondyly 56
Posterior scalloping of vertebral bodies 3
Short nose 132
Short stature 531
Slender distal phalanx of finger 1
Slender metacarpals 2
Slender proximal phalanx of finger 1
Small capital femoral epiphyses 10
Small epiphyses 9
Small midface 105
Small nose 132
Small wrist bones 6
Soft skin 17
Splayed metaphyses 19
Spondyloepimetaphyseal disorder 9
Spondyloepimetaphyseal dysplasia with multiple dislocations 1
Streaky metaphyseal sclerosis 2
Velvety skin 17
Wide nose 35

Expression

  Differential Expression (8)

Disease log2 FC p
adult high grade glioma -1.400 4.0e-04
group 3 medulloblastoma 1.400 4.6e-04
juvenile dermatomyositis -1.008 6.1e-11
lung cancer 1.100 1.1e-02
malignant mesothelioma 1.600 1.2e-06
non primary Sjogren syndrome sicca 1.200 1.3e-02
osteosarcoma -2.592 2.4e-06
pituitary cancer 1.300 3.4e-06

Protein-protein Interaction (5)

Gene RIF (13)

AA Sequence

MAAGGSTQQRRREMAAASAAAISGAGRCRLSKIGATRRPPPARVRVAVRLRPFVDGTAGASDPPCVRGMD      1 - 70
SCSLEIANWRNHQETLKYQFDAFYGERSTQQDIYAGSVQPILRHLLEGQNASVLAYGPTGAGKTHTMLGS     71 - 140
PEQPGVIPRALMDLLQLTREEGAEGRPWALSVTMSYLEIYQEKVLDLLDPASGDLVIREDCRGNILIPGL    141 - 210
SQKPISSFADFERHFLPASRNRTVGATRLNQRSSRSHAVLLVKVDQRERLAPFRQREGKLYLIDLAGSED    211 - 280
NRRTGNKGLRLKESGAINTSLFVLGKVVDALNQGLPRVPYRDSKLTRLLQDSLGGSAHSILIANIAPERR    281 - 350
FYLDTVSALNFAARSKEVINRPFTNESLQPHALGPVKLSQKELLGPPEAKRARGPEEEEIGSPEPMAAPA    351 - 420
SASQKLSPLQKLSSMDPAMLERLLSLDRLLASQGSQGAPLLSTPKRERMVLMKTVEEKDLEIERLKTKQK    421 - 490
ELEAKMLAQKAEEKENHCPTMLRPLSHRTVTGAKPLKKAVVMPLQLIQEQAASPNAEIHILKNKGRKRKL    491 - 560
ESLDALEPEEKAEDCWELQISPELLAHGRQKILDLLNEGSARDLRSLQRIGPKKAQLIVGWRELHGPFSQ    561 - 630
VEDLERVEGITGKQMESFLKANILGLAAGQRCGAS                                       631 - 665
//

Text Mined References (41)

PMID Year Title