Property Summary

NCBI Gene PubMed Count 85
PubMed Score 138.37
PubTator Score 97.29

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Myopia 176
Retinal Detachment 51
Cleft Palate 271
Abnormal development of end part of bone 14
Abnormal diaphysis morphology 5
Abnormality of the metaphyses 48
Abnormality of the vitreous humor 2
Abnormally-shaped vertebrae 31
Absent frontal sinuses 8
Amblyopia 38
Angle Closure Glaucoma 7
Anterior rib cupping 6
Anteverted nostril 191
Aplasia of frontal sinus 8
Arachnodactyly 49
Arthralgia 90
Arthropathy 43
Astigmatism 54
Auricular malformation 41
Autosomal recessive predisposition 1442
Bell-shaped thorax 10
Bilateral fifth finger clinodactyly 110
Brachycephaly 88
Brachydactyly 156
Broad cranium shape 88
Broad flat nasal bridge 236
Broad ischia 2
Broad long bones 5
Broad ribs 12
Calcification of falx cerebri 6
Cataract 297
Cerebral calcification 43
Cleft uvula 27
Clouding of corneal stroma 50
Concave bridge of nose 195
Congenital Bilateral Cataracts 50
Congenital Camptodactyly 40
Congenital Epicanthus 177
Congenital cataract 50
Congenital hypoplasia of femur 8
Congenital keratoglobus 14
Congenital omphalocele 20
Contracture of joint of hand 30
Corneal Opacity 53
Corneal diameter increased 13
Coxa valga 22
Coxa valga deformity 22
Curvature of little finger 110
Decreased pneumatization of frontal sinus 6
Decreased projection of maxilla 66
Decreased projection of midface 105
Deficiency of upper jaw bones 66
Degenerative polyarthritis 115
Dental abnormalities 60
Depressed cheekbone 22
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Downward slant of palpebral fissure 158
Dumbbell-shaped long bones 4
Ectopia Lentis 17
Epiphyseal dysplasia 14
Esotropia 31
Exophthalmos 112
Femoral bowing 20
Fibular hypoplasia 9
Flat face 52
Flattening of the zygomatic bone 22
Foramen Ovale, Patent 10
Frontal bossing 157
Full lower lip 64
Glossoptosis 10
Hearing abnormality 12
Hydrops Fetalis 21
Hyperplasia of permanent maxillary central incisor 3
Hypertrophy of permanent maxillary central incisor 3
Hypohidrosis 34
Hypoplasia of the maxilla 66
Hypoplasia of the zygomatic bone 22
Hypoplastic feet 66
Hypoplastic fingernails 11
Hypoplastic frontal sinuses 6
Hypoplastic ilia 12
Hypoplastic ischia 11
Hypoplastic mandible condyle 275
Hypoplastic scapulae 14
Hypoplastic toenails 22
Hypotrichosis 47
Hypotrophic cheekbone 22
Hypotrophic frontal sinus 6
Hypotrophic malar bone 129
Hypotrophic maxilla 66
Hypotrophic midface 105
Increased size of permanent maxillary central incisor 3
Increased thickness of cranium 17
Intervertebral Disk Displacement 2
Intervertebral disc disorder 7
Irregular distal femoral epiphysis 2
Irregular proximal tibial epiphyses 1
Irregular vertebral endplates 16
Joint hyperflexibility 78
Knee joint valgus deformity 56
Lens Opacities 231
Long clavicle 7
Long fingers 9
Long philtrum 137
Low Vision 174
Low set ears 181
Malar flattening 129
Mandibular hypoplasia 275
Maxillary retrognathia 66
Meningeal calcification 1
Micrognathism 275
Micromelia 58
Microstomia 78
Midface retrusion 105
Narrow sacrosciatic notch 6
Narrow thorax 53
Nasal bridge wide 236
Orbital separation excessive 244
Pierre Robin Syndrome 11
Platyspondyly 56
Posterior displacement of the tongue 10
Posterior rib cupping 5
Posterior vertebral hypoplasia 3
Premature Birth 77
Premature birth of newborn 67
Prominent eyes 96
Prominent globes 96
Prominent lower lip 64
Prominent, protruding upper incisors 3
Protruding eyes 96
Protuberant abdomen 16
Radial bowing 13
Range of joint movement increased 32
Respiratory Insufficiency 132
Respiratory function loss 121
Retinal Diseases 55
Retrusion of upper jaw bones 66
Rhizomelia 25
Round face 45
Round, full face 45
STICKLER SYNDROME, TYPE II (disorder) 1
Sensorineural Hearing Loss (disorder) 284
Severe myopia 22
Short hands 50
Short neck 140
Short nose 132
Short ribs 30
Short stature 531
Short tubular bones 22
Simple ear 41
Small cheekbone 22
Small distal femoral epiphysis 1
Small hand 36
Small midface 105
Small nose 132
Small proximal tibial epiphyses 1
Small wings of the pelvic girdle 12
Spondyloepiphyseal Dysplasia 7
Stillbirth 17
Thick upper lip vermilion 4
Thickened calvaria 17
Thin clavicle 4
Thin rib 21
Thoracic hypoplasia 14
Tooth Abnormalities 69
Ulnar bowing 10
Upper airway obstruction 6
Uranostaphyloschisis 167
Visual Impairment 174
Vitreoretinal degeneration 9
Wide anterior fontanel 44
Wide skull shape 88
Wide tufts of distal phalanges 1
Widely patent coronal suture 1
Widely patent sagittal suture 1
Disease Target Count Z-score Confidence
Glaucoma 239 0.0 3.0

Expression

  Differential Expression (23)

Disease log2 FC p
lung cancer 1.400 3.1e-02
adrenocortical carcinoma 2.741 3.7e-02
Astrocytoma, Pilocytic 1.900 1.6e-07
atypical teratoid / rhabdoid tumor 2.500 2.9e-02
Breast cancer 4.100 2.5e-02
breast carcinoma 1.900 3.8e-04
colon cancer 3.100 5.4e-03
cystic fibrosis -1.997 2.8e-05
ductal carcinoma in situ 2.800 2.5e-03
glioblastoma 1.200 1.0e-02
group 4 medulloblastoma -1.100 1.7e-03
invasive ductal carcinoma 4.475 2.1e-06
lung adenocarcinoma 1.600 3.5e-11
malignant mesothelioma 2.200 2.0e-06
non-small cell lung cancer 4.060 1.5e-21
oligodendroglioma -1.100 2.2e-02
ovarian cancer -2.400 2.5e-03
pancreatic cancer 3.200 4.9e-06
pediatric high grade glioma 1.400 1.2e-02
Pick disease 1.500 6.3e-04
primary pancreatic ductal adenocarcinoma 3.011 3.1e-02
psoriasis -1.100 4.0e-12
X-linked cerebral adrenoleukodystrophy 3.100 4.6e-02

 CSPA Cell Line (2)

Gene RIF (56)

AA Sequence

MEPWSSRWKTKRWLWDFTVTTLALTFLFQAREVRGAAPVDVLKALDFHNSPEGISKTTGFCTNRKNSKGS      1 - 70
DTAYRVSKQAQLSAPTKQLFPGGTFPEDFSILFTVKPKKGIQSFLLSIYNEHGIQQIGVEVGRSPVFLFE     71 - 140
DHTGKPAPEDYPLFRTVNIADGKWHRVAISVEKKTVTMIVDCKKKTTKPLDRSERAIVDTNGITVFGTRI    141 - 210
LDEEVFEGDIQQFLITGDPKAAYDYCEHYSPDCDSSAPKAAQAQEPQIDEYAPEDIIEYDYEYGEAEYKE    211 - 280
AESVTEGPTVTEETIAQTEANIVDDFQEYNYGTMESYQTEAPRHVSGTNEPNPVEEIFTEEYLTGEDYDS    281 - 350
QRKNSEDTLYENKEIDGRDSDLLVDGDLGEYDFYEYKEYEDKPTSPPNEEFGPGVPAETDITETSINGHG    351 - 420
AYGEKGQKGEPAVVEPGMLVEGPPGPAGPAGIMGPPGLQGPTGPPGDPGDRGPPGRPGLPGADGLPGPPG    421 - 490
TMLMLPFRYGGDGSKGPTISAQEAQAQAILQQARIALRGPPGPMGLTGRPGPVGGPGSSGAKGESGDPGP    491 - 560
QGPRGVQGPPGPTGKPGKRGRPGADGGRGMPGEPGAKGDRGFDGLPGLPGDKGHRGERGPQGPPGPPGDD    561 - 630
GMRGEDGEIGPRGLPGEAGPRGLLGPRGTPGAPGQPGMAGVDGPPGPKGNMGPQGEPGPPGQQGNPGPQG    631 - 700
LPGPQGPIGPPGEKGPQGKPGLAGLPGADGPPGHPGKEGQSGEKGALGPPGPQGPIGYPGPRGVKGADGV    701 - 770
RGLKGSKGEKGEDGFPGFKGDMGLKGDRGEVGQIGPRGEDGPEGPKGRAGPTGDPGPSGQAGEKGKLGVP    771 - 840
GLPGYPGRQGPKGSTGFPGFPGANGEKGARGVAGKPGPRGQRGPTGPRGSRGARGPTGKPGPKGTSGGDG    841 - 910
PPGPPGERGPQGPQGPVGFPGPKGPPGPPGKDGLPGHPGQRGETGFQGKTGPPGPGGVVGPQGPTGETGP    911 - 980
IGERGHPGPPGPPGEQGLPGAAGKEGAKGDPGPQGISGKDGPAGLRGFPGERGLPGAQGAPGLKGGEGPQ    981 - 1050
GPPGPVGSPGERGSAGTAGPIGLPGRPGPQGPPGPAGEKGAPGEKGPQGPAGRDGVQGPVGLPGPAGPAG   1051 - 1120
SPGEDGDKGEIGEPGQKGSKGDKGENGPPGPPGLQGPVGAPGIAGGDGEPGPRGQQGMFGQKGDEGARGF   1121 - 1190
PGPPGPIGLQGLPGPPGEKGENGDVGPMGPPGPPGPRGPQGPNGADGPQGPPGSVGSVGGVGEKGEPGEA   1191 - 1260
GNPGPPGEAGVGGPKGERGEKGEAGPPGAAGPPGAKGPPGDDGPKGNPGPVGFPGDPGPPGEPGPAGQDG   1261 - 1330
VGGDKGEDGDPGQPGPPGPSGEAGPPGPPGKRGPPGAAGAEGRQGEKGAKGEAGAEGPPGKTGPVGPQGP   1331 - 1400
AGKPGPEGLRGIPGPVGEQGLPGAAGQDGPPGPMGPPGLPGLKGDPGSKGEKGHPGLIGLIGPPGEQGEK   1401 - 1470
GDRGLPGTQGSPGAKGDGGIPGPAGPLGPPGPPGLPGPQGPKGNKGSTGPAGQKGDSGLPGPPGSPGPPG   1471 - 1540
EVIQPLPILSSKKTRRHTEGMQADADDNILDYSDGMEEIFGSLNSLKQDIEHMKFPMGTQTNPARTCKDL   1541 - 1610
QLSHPDFPDGEYWIDPNQGCSGDSFKVYCNFTSGGETCIYPDKKSEGVRISSWPKEKPGSWFSEFKRGKL   1611 - 1680
LSYLDVEGNSINMVQMTFLKLLTASARQNFTYHCHQSAAWYDVSSGSYDKALRFLGSNDEEMSYDNNPFI   1681 - 1750
KTLYDGCASRKGYEKTVIEINTPKIDQVPIVDVMINDFGDQNQKFGFEVGPVCFLG                 1751 - 1806
//

Text Mined References (87)

PMID Year Title