Property Summary

NCBI Gene PubMed Count 22
PubMed Score 8.63
PubTator Score 7.11

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Cole Carpenter syndrome 2 0.0 0.0
Disease Target Count
Abnormal skeletal development 60
Abnormality of the metaphyses 48
Abnormality of the ribs 32
Abnormality of the voice 46
Abnormally-shaped vertebrae 31
Acquired scoliosis 281
Acrocephaly 12
Autosomal recessive predisposition 1442
Big calvaria 147
Blue sclera 32
Bowing of the long bones 31
Byzanthine arch palate 194
Communicating Hydrocephalus 8
Coronal craniosynostosis 14
Crumpled long bones 5
Curvature of spine 282
Decreased projection of midface 105
Defective tooth enamel 31
Downward slant of palpebral fissure 158
Dystrophic tooth enamel 31
Enamel abnormalities 31
Exophthalmos 112
Fetal Growth Retardation 189
Frequent fractures 53
Frontal bossing 157
Generalized osteopenia 99
High pitched voice 23
Hydrocephalus 152
Hyperkyphosis 111
Hypoplastic mandible condyle 275
Hypotrophic midface 105
Increased fracture rate 53
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Kyphosis deformity of spine 114
Late tooth eruption 61
Mandibular hypoplasia 275
Maternal oligohydramnios 31
Micrognathism 275
Microretrognathia 13
Midface retrusion 105
Muscle hypotonia 571
Oligohydramnios 52
Orbital separation excessive 244
Osteochondrodysplasias 72
Osteopenia 99
Pectus excavatum 100
Platyspondyly 56
Postnatal growth retardation 57
Prominent eyes 96
Prominent globes 96
Protruding eyes 96
Short stature 531
Small midface 105
Structure of wormian bone 24
Synostotic Posterior Plagiocephaly 8
Thin rib 21
Triangular face 58
Varying degree of multiple fractures 53
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.0
Kidney cancer 2613 0.0 0.5
Disease Target Count Z-score Confidence
Osteogenesis imperfecta 34 3.531 1.8
Craniosynostosis 74 0.0 4.0
Disease Target Count Z-score Confidence
Hyperekplexia 16 3.256 1.6
Dentinogenesis imperfecta 25 3.252 1.6

Expression

  Differential Expression (14)

Disease log2 FC p
active Crohn's disease 2.917 1.7e-04
active ulcerative colitis 2.164 5.2e-03
adult high grade glioma 1.300 2.4e-02
Astrocytoma, Pilocytic 1.300 1.5e-03
glioblastoma 1.300 4.3e-04
interstitial cystitis 1.200 4.4e-04
invasive ductal carcinoma 1.100 1.4e-02
lung adenocarcinoma 1.297 3.5e-06
osteosarcoma 1.918 2.3e-03
ovarian cancer -1.300 1.2e-03
pituitary cancer -1.200 1.3e-03
posterior fossa group A ependymoma 1.200 9.9e-04
primary Sjogren syndrome 1.100 4.8e-04
psoriasis 1.400 7.0e-04

Protein-protein Interaction (1)

Gene RIF (6)

AA Sequence

MSQQGYVATPPYSQPQPGIGLSPPHYGHYGDPSHTASPTGMMKPAGPLGATATRGMLPPGPPPPGPHQFG      1 - 70
QNGAHATGHPPQRFPGPPPVNNVASSHAPYQPSAQSSYPGPISTSSVTQLGSQLSAMQINSYGSGMAPPS     71 - 140
QGPPGPLSATSLQTPPRPPQPSILQPGSQVLPPPPTTLNGPGASPLPLPMYRPDGLSGPPPPNAQYQPPP    141 - 210
LPGQTLGAGYPPQQANSGPQMAGAQLSYPGGFPGGPAQMAGPPQPQKKLDPDSIPSPIQVIENDRASRGG    211 - 280
QVYATNTRGQIPPLVTTDCMIQDQGNASPRFIRCTTYCFPCTSDMAKQAQIPLAAVIKPFATIPSNESPL    281 - 350
YLVNHGESGPVRCNRCKAYMCPFMQFIEGGRRYQCGFCNCVNDVPPFYFQHLDHIGRRLDHYEKPELSLG    351 - 420
SYEYVATLDYCRKSKPPNPPAFIFMIDVSYSNIKNGLVKLICEELKTMLEKIPKEEQEETSAIRVGFITY    421 - 490
NKVLHFFNVKSNLAQPQMMVVTDVGEVFVPLLDGFLVNYQESQSVIHNLLDQIPDMFADSNENETVFAPV    491 - 560
IQAGMEALKAADCPGKLFIFHSSLPTAEAPGKLKNRDDKKLVNTDKEKILFQPQTNVYDSLAKDCVAHGC    561 - 630
SVTLFLFPSQYVDVASLGLVPQLTGGTLYKYNNFQMHLDRQQFLNDLRNDIEKKIGFDAIMRVRTSTGFR    631 - 700
ATDFFGGILMNNTTDVEMAAIDCDKAVTVEFKHDDKLSEDSGALIQCAVLYTTISGQRRLRIHNLGLNCS    701 - 770
SQLADLYKSCETDALINFFAKSAFKAVLHQPLKVIREILVNQTAHMLACYRKNCASPSAASQLILPDSMK    771 - 840
VLPVYMNCLLKNCVLLSRPEISTDERAYQRQLVMTMGVADSQLFFYPQLLPIHTLDVKSTMLPAAVRCSE    841 - 910
SRLSEEGIFLLANGLHMFLWLGVSSPPELIQGIFNVPSFAHINTDMTLLPEVGNPYSQQLRMIMGIIQQK    911 - 980
RPYSMKLTIVKQREQPEMVFRQFLVEDKGLYGGSSYVDFLCCVHKEICQLLN                      981 - 1032
//

Text Mined References (28)

PMID Year Title