Property Summary

NCBI Gene PubMed Count 68
PubMed Score 263.42
PubTator Score 111.08

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
11 pairs of ribs 7
Abnormal development of end part of bone 14
Abnormality of pelvic girdle bone morphology 37
Abnormality of the femur 6
Abnormality of the humerus 6
Abnormality of the metacarpal bones 17
Abnormality of the radius 3
Abnormality of the tibia 9
Absence of radius and ulna 15
Absent radius 15
Accessory carpal bone 2
Acquired flat foot 72
Acquired scoliosis 281
Aplasia/Hypoplasia of the abdominal wall musculature 17
Aplasia/Hypoplasia of the lungs 13
Atelosteogenesis Type 3 1
Atrial Septal Defects 85
Autosomal recessive predisposition 1442
Beaked vertebral bodies 9
Bilateral fifth finger clinodactyly 110
Block vertebrae 2
Brachydactyly 156
Brachyonychia 6
Broad distal phalanges 2
Broad face 7
Broad flat nasal bridge 236
Broad nasal tip 28
Broad thumbs 28
Bronchomalacia 7
Bulging forehead 66
C2-C3 subluxation 1
Carpal synostosis 12
Cataract 297
Cervical kyphosis 2
Cervical spine segmentation defects 1
Cleft Lip 141
Cleft Palate 271
Clouding of corneal stroma 50
Clubbing 9
Compression of spinal cord 10
Concave bridge of nose 195
Conductive hearing loss 123
Congenital cerebral hernia 21
Congenital clubfoot 109
Congenital hypoplasia of femur 8
Congenital omphalocele 20
Congenital pectus carinatum 52
Corneal Opacity 53
Coronal cleft vertebrae 8
Cryptorchidism 296
Curvature of little finger 110
Curvature of spine 282
Cystic kidney 30
Decreased projection of maxilla 66
Decreased projection of midface 105
Defective enamel matrix 35
Deficiency of upper jaw bones 66
Delayed bone age 136
Delayed coalescence of calcaneal ossification centers 2
Dental Enamel Hypoplasia 43
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Dilatation of aorta 9
Distal tapering femur 1
Dull intelligence 645
Dwarfism 37
Dysplasia of tooth enamel 35
Epiphyseal dysplasia 14
Equinovalgus deformity 4
Exophthalmos 112
Fetal Growth Retardation 189
Fibular aplasia 6
Flat acetabular roof 10
Flat face 52
Flatfoot 73
Frontal bossing 157
Fused cervical vertebrae 5
Hearing Loss, Mixed Conductive-Sensorineural 12
Hitchhiker thumb 3
Horizontal sacrum 3
Hydrops Fetalis 21
Hypodontia 81
Hypoplasia of the maxilla 66
Hypoplasia or unilateral/bilateral absence of ulna 3
Hypoplastic cervical vertebrae 3
Hypoplastic iliac body 2
Hypoplastic mandible condyle 275
Hypoplastic nasal septum 2
Hypoplastic/aplastic fibulae 5
Hypotrophic malar bone 129
Hypotrophic maxilla 66
Hypotrophic midface 105
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intrauterine retardation 176
Isolated cases 72
Isolated somatotropin deficiency 30
Joint hyperflexibility 78
Joint laxity 54
Laryngostenosis 10
Lens Opacities 231
Lordosis 54
Low intelligence 645
Malar flattening 129
Mandibular hypoplasia 275
Maxillary retrognathia 66
Mental Retardation 645
Mental deficiency 645
Micrognathism 275
Micromelia 58
Midface retrusion 105
Multinucleated giant chondrocytes in epiphyseal cartilage 1
Multiple carpal ossification centers 2
Narrow thorax 53
Nasal bridge wide 236
Neonatal Death 14
ODONTOID HYPOPLASIA 16
Orbital separation excessive 244
Pectus excavatum 100
Polyhydramnios 108
Poor school performance 645
Poorly ossified vertebrae 1
Preauricular skin tag 19
Premature Birth 77
Premature birth of newborn 67
Prominent back of the head 21
Prominent eyes 96
Prominent forehead 66
Prominent globes 96
Prominent occiput 21
Protruding eyes 96
Proximal club shaped femurs 2
Radial aplasia 15
Radial bowing 13
Rarefaction of retinal pigmentation 1
Renal cyst 30
Restrictive lung disease 11
Restrictive ventilatory defect 11
Retrusion of upper jaw bones 66
Rhizomelia 25
Sandal gap 24
Schizophrenia 1160
Severe short-limb dwarfism 4
Shallow orbits 13
Short distal phalanges 50
Short metacarpal 43
Short metatarsal 21
Short neck 140
Short nose 132
Short stature 531
Short upper arms 16
Short-trunked dwarfism 13
Skin tag on the posterior cheek 19
Small midface 105
Small nose 132
Spatulate thumbs 3
Spina bifida occulta 19
Spondylolysis 14
Stillbirth 17
Syndactyly of fingers 48
Talipes Equinovalgus 4
Tarsal Coalition 12
Thin dental enamel 35
Thin hypoplastic alae nasi 51
Thoracic platyspondyly 1
Tibial bowing 19
Tombstone-shaped proximal phalanges 1
Tracheal stenosis 23
Tracheomalacia 22
Uranostaphyloschisis 167
Ventricular Septal Defects 119
Wedging of vertebra 9
Widened distal phalanges 1
Disease Target Count Z-score Confidence
Anorexia nervosa 80 0.0 1.7

Expression

  Differential Expression (9)

Disease log2 FC p
atypical teratoid / rhabdoid tumor 1.400 1.2e-04
ependymoma 1.300 2.5e-02
intraductal papillary-mucinous neoplasm ... 1.400 1.9e-03
lung carcinoma 1.100 1.9e-14
non-small cell lung cancer 1.359 2.8e-20
ovarian cancer -1.300 6.3e-05
pancreatic cancer 1.100 1.0e-04
sonic hedgehog group medulloblastoma 1.100 4.7e-03
tuberculosis -1.700 2.5e-08

PDB (23)

Gene RIF (40)

AA Sequence

MPVTEKDLAEDAPWKKIQQNTFTRWCNEHLKCVNKRIGNLQTDLSDGLRLIALLEVLSQKRMYRKYHQRP      1 - 70
TFRQMQLENVSVALEFLDRESIKLVSIDSKAIVDGNLKLILGLVWTLILHYSISMPVWEDEGDDDAKKQT     71 - 140
PKQRLLGWIQNKIPYLPITNFNQNWQDGKALGALVDSCAPGLCPDWESWDPQKPVDNAREAMQQADDWLG    141 - 210
VPQVITPEEIIHPDVDEHSVMTYLSQFPKAKLKPGAPLKPKLNPKKARAYGRGIEPTGNMVKQPAKFTVD    211 - 280
TISAGQGDVMVFVEDPEGNKEEAQVTPDSDKNKTYSVEYLPKVTGLHKVTVLFAGQHISKSPFEVSVDKA    281 - 350
QGDASKVTAKGPGLEAVGNIANKPTYFDIYTAGAGVGDIGVEVEDPQGKNTVELLVEDKGNQVYRCVYKP    351 - 420
MQPGPHVVKIFFAGDTIPKSPFVVQVGEACNPNACRASGRGLQPKGVRIRETTDFKVDTKAAGSGELGVT    421 - 490
MKGPKGLEELVKQKDFLDGVYAFEYYPSTPGRYSIAITWGGHHIPKSPFEVQVGPEAGMQKVRAWGPGLH    491 - 560
GGIVGRSADFVVESIGSEVGSLGFAIEGPSQAKIEYNDQNDGSCDVKYWPKEPGEYAVHIMCDDEDIKDS    561 - 630
PYMAFIHPATGGYNPDLVRAYGPGLEKSGCIVNNLAEFTVDPKDAGKAPLKIFAQDGEGQRIDIQMKNRM    631 - 700
DGTYACSYTPVKAIKHTIAVVWGGVNIPHSPYRVNIGQGSHPQKVKVFGPGVERSGLKANEPTHFTVDCT    701 - 770
EAGEGDVSVGIKCDARVLSEDEEDVDFDIIHNANDTFTVKYVPPAAGRYTIKVLFASQEIPASPFRVKVD    771 - 840
PSHDASKVKAEGPGLSKAGVENGKPTHFTVYTKGAGKAPLNVQFNSPLPGDAVKDLDIIDNYDYSHTVKY    841 - 910
TPTQQGNMQVLVTYGGDPIPKSPFTVGVAAPLDLSKIKLNGLENRVEVGKDQEFTVDTRGAGGQGKLDVT    911 - 980
ILSPSRKVVPCLVTPVTGRENSTAKFIPREEGLYAVDVTYDGHPVPGSPYTVEASLPPDPSKVKAHGPGL    981 - 1050
EGGLVGKPAEFTIDTKGAGTGGLGLTVEGPCEAKIECSDNGDGTCSVSYLPTKPGEYFVNILFEEVHIPG   1051 - 1120
SPFKADIEMPFDPSKVVASGPGLEHGKVGEAGLLSVDCSEAGPGALGLEAVSDSGTKAEVSIQNNKDGTY   1121 - 1190
AVTYVPLTAGMYTLTMKYGGELVPHFPARVKVEPAVDTSRIKVFGPGIEGKDVFREATTDFTVDSRPLTQ   1191 - 1260
VGGDHIKAHIANPSGASTECFVTDNADGTYQVEYTPFEKGLHVVEVTYDDVPIPNSPFKVAVTEGCQPSR   1261 - 1330
VQAQGPGLKEAFTNKPNVFTVVTRGAGIGGLGITVEGPSESKINCRDNKDGSCSAEYIPFAPGDYDVNIT   1331 - 1400
YGGAHIPGSPFRVPVKDVVDPSKVKIAGPGLGSGVRARVLQSFTVDSSKAGLAPLEVRVLGPRGLVEPVN   1401 - 1470
VVDNGDGTHTVTYTPSQEGPYMVSVKYADEEIPRSPFKVKVLPTYDASKVTASGPGLSSYGVPASLPVDF   1471 - 1540
AIDARDAGEGLLAVQITDQEGKPKRAIVHDNKDGTYAVTYIPDKTGRYMIGVTYGGDDIPLSPYRIRATQ   1541 - 1610
TGDASKCLATGPGIASTVKTGEEVGFVVDAKTAGKGKVTCTVLTPDGTEAEADVIENEDGTYDIFYTAAK   1611 - 1680
PGTYVIYVRFGGVDIPNSPFTVMATDGEVTAVEEAPVNACPPGFRPWVTEEAYVPVSDMNGLGFKPFDLV   1681 - 1750
IPFAVRKGEITGEVHMPSGKTATPEIVDNKDGTVTVRYAPTEVGLHEMHIKYMGSHIPESPLQFYVNYPN   1751 - 1820
SGSVSAYGPGLVYGVANKTATFTIVTEDAGEGGLDLAIEGPSKAEISCIDNKDGTCTVTYLPTLPGDYSI   1821 - 1890
LVKYNDKHIPGSPFTAKITDDSRRCSQVKLGSAADFLLDISETDLSSLTASIKAPSGRDEPCLLKRLPNN   1891 - 1960
HIGISFIPREVGEHLVSIKKNGNHVANSPVSIMVVQSEIGDARRAKVYGRGLSEGRTFEMSDFIVDTRDA   1961 - 2030
GYGGISLAVEGPSKVDIQTEDLEDGTCKVSYFPTVPGVYIVSTKFADEHVPGSPFTVKISGEGRVKESIT   2031 - 2100
RTSRAPSVATVGSICDLNLKIPEINSSDMSAHVTSPSGRVTEAEIVPMGKNSHCVRFVPQEMGVHTVSVK   2101 - 2170
YRGQHVTGSPFQFTVGPLGEGGAHKVRAGGPGLERGEAGVPAEFSIWTREAGAGGLSIAVEGPSKAEITF   2171 - 2240
DDHKNGSCGVSYIAQEPGNYEVSIKFNDEHIPESPYLVPVIAPSDDARRLTVMSLQESGLKVNQPASFAI   2241 - 2310
RLNGAKGKIDAKVHSPSGAVEECHVSELEPDKYAVRFIPHENGVHTIDVKFNGSHVVGSPFKVRVGEPGQ   2311 - 2380
AGNPALVSAYGTGLEGGTTGIQSEFFINTTRAGPGTLSVTIEGPSKVKMDCQETPEGYKVMYTPMAPGNY   2381 - 2450
LISVKYGGPNHIVGSPFKAKVTGQRLVSPGSANETSSILVESVTRSSTETCYSAIPKASSDASKVTSKGA   2451 - 2520
GLSKAFVGQKSSFLVDCSKAGSNMLLIGVHGPTTPCEEVSMKHVGNQQYNVTYVVKERGDYVLAVKWGEE   2521 - 2590
HIPGSPFHVTVP                                                             2591 - 2602
//

Text Mined References (83)

PMID Year Title