Property Summary

NCBI Gene PubMed Count 233
PubMed Score 1247.48
PubTator Score 434.76

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (9)

Disease Target Count
Exudative vitreoretinopathy 15
Osteopetrosis 43
Polycystic liver disease 16
Retinal Detachment 51
Abdomen distended 43
Abnormal cortical bone morphology 22
Abnormality of pelvic girdle bone morphology 37
Abnormality of the backbone 4
Abnormality of the clavicle 14
Abnormality of the ribs 32
Abnormality of the vertebral column 4
Abnormally small eyeball 97
Abnormally-shaped vertebrae 31
Absent anterior chamber of eye 1
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Atrophic iris 2
Autosomal recessive predisposition 1442
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1 1
Barrel chest 12
Bell Palsy 58
Big calvaria 147
Blind Vision 111
Blindness, Legal 110
Bone pain 42
Brachycephaly 88
Broad cranium shape 88
Broad forehead 59
Broad jaw 3
Cataract 297
Class III malocclusion 78
Collapse of vertebra 14
Compression fracture of vertebral column 14
Conductive hearing loss 123
Congenital retinal fold 3
Craniofacial hyperostosis 11
Craniosynostosis 74
Decreased size of eyeball 97
Diaphyseal thickening 11
Diffuse, symmetrical osteosclerosis 5
EXUDATIVE VITREORETINOPATHY 4 (disorder) 1
Enlargement of craniofacial bones 11
Enlargement of skull bones 7
Excessive growth of skull bones 7
Facial Paresis 59
Facial muscle weakness of muscles innervated by CN VII 58
Flat forehead 5
Frequent fractures 53
Gait abnormality 135
Generalized osteopenia 99
Glioma 74
Headache 37
Hepatomegaly 285
High forehead 102
Horizontal pendular nystagmus 2
Hyperostosis of cranial vault 7
Hypertrophy of cranial bones 7
Hypertrophy of craniofacial bones 11
Hypertrophy of lower jaw 78
Increased bone density in skeletal bones 5
Increased fracture rate 53
Increased head circumference 147
Increased size of cranium 147
Increased size of mandible 78
Increased size of skull 147
Increased susceptibility to fractures 21
Increased thickness of cranium 17
Infantile onset 238
Juvenile osteoporosis 4
Kyphoscoliosis deformity of spine 60
Lens Opacities 231
Malocclusion 57
Mandibular hyperplasia 78
Maxillary torus 2
Metacarpal diaphyseal endosteal sclerosis 1
Metaphyseal widening 22
Metatarsal diaphyseal endosteal sclerosis 1
Microphthalmos 100
Mild Mental Retardation 70
Multiple renal cysts 5
Muscle hypotonia 571
Orbital separation excessive 244
Osteopenia 99
Osteosclerosis 31
Osteosclerosis of the clavicles 1
Pathological fracture 20
Peripheral retinal avascularization 2
Phthisis bulbi 5
Pigmentary retinal degeneration 11
Platyspondyly 56
Posterior Vitreous Detachment 2
Prominent midpalatal ridge (torus palatinus) 2
Range of joint movement increased 32
Reduced visual acuity 63
Retinal Neovascularization 4
Retinal exudates 11
Sensorineural Hearing Loss (disorder) 284
Short stature 531
Skull malformation 38
Slow progression 89
Small head 374
Subcapsular cataract 5
Tall forehead 102
Thick craniofacial bones 11
Thick skull bones 7
Thickened calvaria 17
Thickened cortex of long bones 4
Torus palatinus 2
Tractional retinal detachment 1
Van Buchem disease 2
Varying degree of multiple fractures 53
Ventricular Septal Defects 119
Vertebral body sclerosis 1
Vitreoretinal abnormalities 2
Vitreous Hemorrhage 6
Wide skull shape 88
abnormal growth 26
mandibular excess (physical finding) 78
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1
Kidney cancer 2613 0.0 0.6
Disease Target Count Z-score Confidence
Osteoporosis 363 5.615 2.8
Disease Target Count Z-score Confidence
Idiopathic juvenile osteoporosis 1 0.0 5.0
Disease Target Count Z-score Confidence
Osteogenesis imperfecta 34 3.659 1.8

Expression

  Differential Expression (15)

Disease log2 FC p
adrenocortical carcinoma -1.211 7.6e-03
Astrocytoma, Pilocytic 1.100 9.8e-04
atypical teratoid / rhabdoid tumor 1.700 4.8e-05
ductal carcinoma in situ -1.400 1.4e-03
glioblastoma 1.800 2.0e-04
interstitial cystitis -1.600 1.3e-03
invasive ductal carcinoma -1.200 2.4e-02
medulloblastoma 1.100 3.2e-02
medulloblastoma, large-cell 1.300 2.4e-03
oligodendroglioma 1.100 7.5e-14
osteosarcoma -1.426 6.3e-03
pediatric high grade glioma 1.300 4.2e-04
pituitary cancer -1.600 6.7e-07
primitive neuroectodermal tumor 1.900 3.6e-05
psoriasis -1.100 1.2e-09

 CSPA Cell Line (4)

Gene RIF (230)

AA Sequence

MEAAPPGPPWPLLLLLLLLLALCGCPAPAAASPLLLFANRRDVRLVDAGGVKLESTIVVSGLEDAAAVDF      1 - 70
QFSKGAVYWTDVSEEAIKQTYLNQTGAAVQNVVISGLVSPDGLACDWVGKKLYWTDSETNRIEVANLNGT     71 - 140
SRKVLFWQDLDQPRAIALDPAHGYMYWTDWGETPRIERAGMDGSTRKIIVDSDIYWPNGLTIDLEEQKLY    141 - 210
WADAKLSFIHRANLDGSFRQKVVEGSLTHPFALTLSGDTLYWTDWQTRSIHACNKRTGGKRKEILSALYS    211 - 280
PMDIQVLSQERQPFFHTRCEEDNGGCSHLCLLSPSEPFYTCACPTGVQLQDNGRTCKAGAEEVLLLARRT    281 - 350
DLRRISLDTPDFTDIVLQVDDIRHAIAIDYDPLEGYVYWTDDEVRAIRRAYLDGSGAQTLVNTEINDPDG    351 - 420
IAVDWVARNLYWTDTGTDRIEVTRLNGTSRKILVSEDLDEPRAIALHPVMGLMYWTDWGENPKIECANLD    421 - 490
GQERRVLVNASLGWPNGLALDLQEGKLYWGDAKTDKIEVINVDGTKRRTLLEDKLPHIFGFTLLGDFIYW    491 - 560
TDWQRRSIERVHKVKASRDVIIDQLPDLMGLKAVNVAKVVGTNPCADRNGGCSHLCFFTPHATRCGCPIG    561 - 630
LELLSDMKTCIVPEAFLVFTSRAAIHRISLETNNNDVAIPLTGVKEASALDFDVSNNHIYWTDVSLKTIS    631 - 700
RAFMNGSSVEHVVEFGLDYPEGMAVDWMGKNLYWADTGTNRIEVARLDGQFRQVLVWRDLDNPRSLALDP    701 - 770
TKGYIYWTEWGGKPRIVRAFMDGTNCMTLVDKVGRANDLTIDYADQRLYWTDLDTNMIESSNMLGQERVV    771 - 840
IADDLPHPFGLTQYSDYIYWTDWNLHSIERADKTSGRNRTLIQGHLDFVMDILVFHSSRQDGLNDCMHNN    841 - 910
GQCGQLCLAIPGGHRCGCASHYTLDPSSRNCSPPTTFLLFSQKSAISRMIPDDQHSPDLILPLHGLRNVK    911 - 980
AIDYDPLDKFIYWVDGRQNIKRAKDDGTQPFVLTSLSQGQNPDRQPHDLSIDIYSRTLFWTCEATNTINV    981 - 1050
HRLSGEAMGVVLRGDRDKPRAIVVNAERGYLYFTNMQDRAAKIERAALDGTEREVLFTTGLIRPVALVVD   1051 - 1120
NTLGKLFWVDADLKRIESCDLSGANRLTLEDANIVQPLGLTILGKHLYWIDRQQQMIERVEKTTGDKRTR   1121 - 1190
IQGRVAHLTGIHAVEEVSLEEFSAHPCARDNGGCSHICIAKGDGTPRCSCPVHLVLLQNLLTCGEPPTCS   1191 - 1260
PDQFACATGEIDCIPGAWRCDGFPECDDQSDEEGCPVCSAAQFPCARGQCVDLRLRCDGEADCQDRSDEA   1261 - 1330
DCDAICLPNQFRCASGQCVLIKQQCDSFPDCIDGSDELMCEITKPPSDDSPAHSSAIGPVIGIILSLFVM   1331 - 1400
GGVYFVCQRVVCQRYAGANGPFPHEYVSGTPHVPLNFIAPGGSQHGPFTGIACGKSMMSSVSLMGGRGGV   1401 - 1470
PLYDRNHVTGASSSSSSSTKATLYPPILNPPPSPATDPSLYNMDMFYSSNIPATARPYRPYIIRGMAPPT   1471 - 1540
TPCSTDVCDSDYSASRWKASKYYLDLNSDSDPYPPPPTPHSQYLSAEDSCPPSPATERSYFHLFPPPPSP   1541 - 1610
CTDSS                                                                    1611 - 1615
//

Text Mined References (246)

PMID Year Title