Property Summary

NCBI Gene PubMed Count 239
PubMed Score 1057.41
PubTator Score 612.08

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (9)

Disease Target Count
Polydactyly 107
Abnormality of thalamus morphology 2
Abnormality of the ribs 32
Abnormally small eyeball 97
Abnormally small eyeball on both sides 5
Absent nasal septal cartilage 3
Accessory rib 10
Acquired scoliosis 281
Advanced bone age 35
Agenesis of corpus callosum 83
Alobar Holoprosencephaly 14
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Arnold Chiari Malformation 11
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 1
Basal cell carcinoma 54
Basal cell nevi 23
Big calvaria 147
Bilateral nanophthalmos 5
Brachydactyly 156
Broad face 7
Broad flat nasal bridge 236
Calcification of falx cerebri 6
Cardiac fibroma 3
Cardiac rhabdomyoma 5
Cataract 297
Central cleft of nose 3
Cerebral calcification 43
Class III malocclusion 78
Cleft palate and bilateral cleft lip 4
Cleft palate with cleft lip 23
Coarse facial features 108
Cognitive delay 608
Coloboma of iris 38
Congenital Epicanthus 177
Congenital anomaly of neck 19
Congenital fusion of ribs 4
Congenital hemivertebra 25
Congenital omphalocele 20
Curvature of spine 282
Decreased projection of maxilla 66
Decreased size of eyeball 97
Deficiency of upper jaw bones 66
Deformity of neck 19
Depressed nasal tip 11
Dilated ventricles (finding) 121
Downward slant of palpebral fissure 158
Dull intelligence 645
Epilepsy 792
Failure of development of nasal septal cartilage 3
Feeding difficulties 127
Flat back of the head 26
Flat nasal alae 1
Flat occiput 26
Frontal bossing 157
Fused vertebrae 25
Glaucoma 239
Global developmental delay 608
Hamartomatous stomach polyps 3
Highly variable severity 157
Hydrocephalus 152
Hyperactive behavior 91
Hyperkyphosis 111
Hypertrophy of lower jaw 78
Hypoplasia of the maxilla 66
Hypoplasia of the premaxilla 2
Hypoplastic philtrum 1
Hypotrophic maxilla 66
Increased head circumference 147
Increased size of cranium 147
Increased size of mandible 78
Increased size of skull 147
Intellectual disability 1016
Interfrontal craniofaciosynostosis 2
Irregular ossification of hand bones 3
Joint hyperflexibility 78
Keratocystic Odontogenic Tumor 3
Kyphoscoliosis deformity of spine 60
Kyphosis deformity of spine 114
Large auricle 87
Large dysplastic ears 87
Large for gestational age 11
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Late tooth eruption 61
Lens Opacities 231
Lobar Holoprosencephaly 20
Long philtrum 137
Low intelligence 645
Low set ears 181
Macrotia 87
Malformation of the neck 19
Malocclusion 57
Mandibular hyperplasia 78
Maxillary retrognathia 66
Median cleft lip/palate 3
Melanocytic nevus 43
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Metopic synostosis 1
Microphthalmia, bilateral 5
Microphthalmos 100
Microstomia 78
Midline defect of the nose 3
Milium Cyst 16
Motor delay 147
Muscle hypotonia 571
Nasal bridge wide 236
Neuroectodermal Tumor, Primitive 8
No development of motor milestones 147
Noncancerous mole 28
Oral cleft 18
Orbital cyst 8
Orbital separation diminished 23
Orbital separation excessive 244
Ovarian Fibromata 3
Palmar pit 4
Pancreatic Neoplasm 85
Panhypopituitarism 14
Parietal bossing 5
Pectus excavatum 100
Plantar pits 4
Poor school performance 645
Premaxillary retrusion 2
Retinal Diseases 55
Retrusion of upper jaw bones 66
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 5
Seizures 596
Sella Turcica, Bridged 3
Semilobar Holoprosencephaly 14
Short 4th metacarpal 7
Short neck 140
Short nose 132
Short ribs 30
Short thumb terminal phalanx 5
Skin pit 1
Skin pits 1
Skin tag 14
Sloping shoulders 21
Small nose 132
Spinal fusion 25
Sprengel deformity 16
Sternal anomalies 19
Strabismus 270
Tall stature 34
Thickened ears 1
Thickened facial skin with coarse facial features 108
Triangular head shape 10
Trigonocephaly 10
Umbilical hernia 93
Uranostaphyloschisis 167
Variable expressivity 157
Vertebral body fusion 25
Vertebral wedging 4
Wedge shaped head 10
mandibular excess (physical finding) 78
spina bifida 1074
Disease Target Count Z-score Confidence
Chronic obstructive pulmonary disease 184 0.0 3.0
Disease Target Count Z-score Confidence
Nevoid basal cell carcinoma syndrome 16 8.332 4.0
Disease Target Count Z-score Confidence
Cancer 2499 5.611 2.8
Holoprosencephaly 56 4.268 2.1
Disease Target Count
Gorlin syndrome 4
Monosomy 9q22.3 1

Expression

  Differential Expression (16)

Disease log2 FC p
Breast cancer -2.200 9.2e-07
medulloblastoma 1.100 1.7e-02
atypical teratoid / rhabdoid tumor 1.300 5.6e-03
breast carcinoma -1.400 6.6e-34
Endometriosis 1.230 4.8e-02
gastric cancer 1.200 1.6e-03
interstitial cystitis -1.400 7.4e-03
invasive ductal carcinoma -2.000 4.2e-03
lung cancer 1.100 8.2e-03
malignant mesothelioma 2.900 1.3e-07
osteosarcoma 1.842 4.8e-03
ovarian cancer -2.200 2.3e-07
pancreatic cancer 1.100 1.4e-02
primary pancreatic ductal adenocarcinoma 1.513 2.7e-02
psoriasis -1.800 8.7e-09
subependymal giant cell astrocytoma -4.132 4.3e-03

 IMPC Phenotype (1)

Gene RIF (198)

AA Sequence

MASAGNAAEPQDRGGGGSGCIGAPGRPAGGGRRRRTGGLRRAAAPDRDYLHRPSYCDAAFALEQISKGKA      1 - 70
TGRKAPLWLRAKFQRLLFKLGCYIQKNCGKFLVVGLLIFGAFAVGLKAANLETNVEELWVEVGGRVSREL     71 - 140
NYTRQKIGEEAMFNPQLMIQTPKEEGANVLTTEALLQHLDSALQASRVHVYMYNRQWKLEHLCYKSGELI    141 - 210
TETGYMDQIIEYLYPCLIITPLDCFWEGAKLQSGTAYLLGKPPLRWTNFDPLEFLEELKKINYQVDSWEE    211 - 280
MLNKAEVGHGYMDRPCLNPADPDCPATAPNKNSTKPLDMALVLNGGCHGLSRKYMHWQEELIVGGTVKNS    281 - 350
TGKLVSAHALQTMFQLMTPKQMYEHFKGYEYVSHINWNEDKAAAILEAWQRTYVEVVHQSVAQNSTQKVL    351 - 420
SFTTTTLDDILKSFSDVSVIRVASGYLLMLAYACLTMLRWDCSKSQGAVGLAGVLLVALSVAAGLGLCSL    421 - 490
IGISFNAATTQVLPFLALGVGVDDVFLLAHAFSETGQNKRIPFEDRTGECLKRTGASVALTSISNVTAFF    491 - 560
MAALIPIPALRAFSLQAAVVVVFNFAMVLLIFPAILSMDLYRREDRRLDIFCCFTSPCVSRVIQVEPQAY    561 - 630
TDTHDNTRYSPPPPYSSHSFAHETQITMQSTVQLRTEYDPHTHVYYTTAEPRSEISVQPVTVTQDTLSCQ    631 - 700
SPESTSSTRDLLSQFSDSSLHCLEPPCTKWTLSSFAEKHYAPFLLKPKAKVVVIFLFLGLLGVSLYGTTR    701 - 770
VRDGLDLTDIVPRETREYDFIAAQFKYFSFYNMYIVTQKADYPNIQHLLYDLHRSFSNVKYVMLEENKQL    771 - 840
PKMWLHYFRDWLQGLQDAFDSDWETGKIMPNNYKNGSDDGVLAYKLLVQTGSRDKPIDISQLTKQRLVDA    841 - 910
DGIINPSAFYIYLTAWVSNDPVAYAASQANIRPHRPEWVHDKADYMPETRLRIPAAEPIEYAQFPFYLNG    911 - 980
LRDTSDFVEAIEKVRTICSNYTSLGLSSYPNGYPFLFWEQYIGLRHWLLLFISVVLACTFLVCAVFLLNP    981 - 1050
WTAGIIVMVLALMTVELFGMMGLIGIKLSAVPVVILIASVGIGVEFTVHVALAFLTAIGDKNRRAVLALE   1051 - 1120
HMFAPVLDGAVSTLLGVLMLAGSEFDFIVRYFFAVLAILTILGVLNGLVLLPVLLSFFGPYPEVSPANGL   1121 - 1190
NRLPTPSPEPPPSVVRFAMPPGHTHSGSDSSDSEYSSQTTVSGLSEELRHYEAQQGAGGPAHQVIVEATE   1191 - 1260
NPVFAHSTVVHPESRHHPPSNPRQQPHLDSGSLPPGRQGQQPRRDPPREGLWPPPYRPRRDAFEISTEGH   1261 - 1330
SGPSNRARWGPRGARSHNPRNPASTAMGSSVPGYCQPITTVTASASVTVAVHPPPVPGPGRNPRGGLCPG   1331 - 1400
YPETDHGLFEDPHVPFHVRCERRDSKVEVIELQDVECEERPRGSSSN                          1401 - 1447
//

Text Mined References (240)

PMID Year Title