Property Summary

NCBI Gene PubMed Count 237
PubMed Score 1190.77
PubTator Score 477.41

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormal nasal morphology 16
Abnormality of the ribs 32
Absent reflex 92
Absent tendon reflex 92
Adenoid Cystic Carcinoma 99
Aortic coarctation 30
Atrial Septal Defects 85
Axenfeld anomaly (disorder) 3
Bilateral fifth finger clinodactyly 110
Brachydactyly 156
Broad forehead 59
Butterfly vertebral arch 1
Cataract 297
Cerebrovascular accident 63
Chorioretinal atrophy 11
Concave bridge of nose 195
Congenital Heart Defects 58
Congenital hemivertebra 25
Congenital hypoplasia of kidney 32
Corneal Dystrophy, Band-Shaped 2
Corneal diameter decreased 47
Cryptorchidism 296
Curvature of little finger 110
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Elevated hepatic transaminases 81
Embryotoxon 28
Enophthalmos 75
Exocrine pancreatic insufficiency 32
Exophthalmos 112
Failure to gain weight 365
Fetal Growth Retardation 189
Hepatic enzyme increased 81
Hypercholesterolemia 44
Hypertriglyceridemia result 37
Increased hepatocellular carcinoma risk 27
Increased incidence of hepatocellular carcinoma 27
Infant, Small for Gestational Age 176
Infantile onset 238
Intrahepatic duct deficiency 1
Intrauterine retardation 176
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Lens Opacities 231
Liver Cirrhosis 181
Liver Dysfunction 99
Liver carcinoma 240
Liver enzymes abnormal 81
Liver function test increased 81
Liver function tests abnormal finding 81
Long narrow head 75
Long nose 15
Macrotia 87
Mammary Neoplasms 425
Medullary sponge kidney disease 3
Microcornea 47
Multiple small medullary renal cysts 3
Myopia 176
Narrow cranium shape 75
Narrow head shape 75
Narrow skull shape 75
Neonatal Jaundice 30
Nephronophthisis 80
Orbital separation excessive 244
Pancreatic Insufficiency 13
Papillary thyroid carcinoma 43
Pediatric failure to thrive 365
Peripheral pulmonary artery stenosis 14
Pigmentary retinal deposits 1
Posterior embryotoxon 28
Preauricular Fistulae, Congenital 27
Preauricular dimple 27
Preauricular sinus 27
Prolonged neonatal jaundice 17
Prominent eyes 96
Prominent globes 96
Protruding eyes 96
RENAL ADYSPLASIA 25
Reduced number of intrahepatic bile ducts 1
Reflex, Deep Tendon, Absent 92
Renal dysplasia 28
Renal tubular acidosis 24
Schizophrenia 1160
Serum cholesterol raised 22
Short distal phalanges 50
Short ulnae 24
Specific learning disability 47
Strabismus 270
Subclinical abnormal liver function tests 81
Sunken eyes 63
Thin lips 49
Transaminases increased 81
Triangular face 58
Turridolichocephaly 75
ULNAR HYPOPLASIA 24
Underdeveloped brows 38
Underdeveloped supraorbital ridges 38
Upward slant of palpebral fissure 75
Ventricular Septal Defects 119
Vesico-Ureteral Reflux 33
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.0
Kidney cancer 2613 0.0 0.6
Disease Target Count Z-score Confidence
Kidney disease 430 0.0 3.0
Osteoporosis 363 0.0 3.0
Disease Target Count
Alagille Syndrome 1 1

Expression

  Differential Expression (28)

Disease log2 FC p
glioblastoma 1.900 9.6e-06
adrenocortical carcinoma 2.286 4.8e-03
adult high grade glioma 1.300 9.6e-03
aldosterone-producing adenoma -1.106 2.2e-02
astrocytoma 1.200 3.1e-06
Astrocytoma, Pilocytic 1.700 1.3e-06
atypical teratoid / rhabdoid tumor 1.900 1.6e-02
autosomal dominant Emery-Dreifuss muscul... 1.048 6.5e-03
cystic fibrosis -1.372 2.5e-05
dermatomyositis 1.500 2.3e-02
Duchenne muscular dystrophy 1.074 1.6e-06
ependymoma 2.100 1.8e-02
gastric carcinoma 1.500 3.9e-02
group 3 medulloblastoma 1.100 2.5e-02
intraductal papillary-mucinous adenoma (... 1.200 8.4e-03
juvenile dermatomyositis 1.036 2.1e-09
lung cancer 1.500 1.1e-03
lung carcinoma 3.000 1.0e-39
medulloblastoma, large-cell -1.100 2.8e-03
non-small cell lung cancer 1.200 9.4e-05
oligodendroglioma 1.200 2.0e-06
osteosarcoma 1.598 2.9e-02
pancreatic cancer 1.300 3.7e-02
primary pancreatic ductal adenocarcinoma 1.499 3.0e-02
primitive neuroectodermal tumor 2.500 5.0e-04
psoriasis -2.400 6.8e-05
subependymal giant cell astrocytoma 1.276 3.8e-02
tuberculosis -1.200 2.5e-03

Protein-protein Interaction (2)

Gene RIF (201)

AA Sequence

MRSPRTRGRSGRPLSLLLALLCALRAKVCGASGQFELEILSMQNVNGELQNGNCCGGARNPGDRKCTRDE      1 - 70
CDTYFKVCLKEYQSRVTAGGPCSFGSGSTPVIGGNTFNLKASRGNDRNRIVLPFSFAWPRSYTLLVEAWD     71 - 140
SSNDTVQPDSIIEKASHSGMINPSRQWQTLKQNTGVAHFEYQIRVTCDDYYYGFGCNKFCRPRDDFFGHY    141 - 210
ACDQNGNKTCMEGWMGPECNRAICRQGCSPKHGSCKLPGDCRCQYGWQGLYCDKCIPHPGCVHGICNEPW    211 - 280
QCLCETNWGGQLCDKDLNYCGTHQPCLNGGTCSNTGPDKYQCSCPEGYSGPNCEIAEHACLSDPCHNRGS    281 - 350
CKETSLGFECECSPGWTGPTCSTNIDDCSPNNCSHGGTCQDLVNGFKCVCPPQWTGKTCQLDANECEAKP    351 - 420
CVNAKSCKNLIASYYCDCLPGWMGQNCDININDCLGQCQNDASCRDLVNGYRCICPPGYAGDHCERDIDE    421 - 490
CASNPCLNGGHCQNEINRFQCLCPTGFSGNLCQLDIDYCEPNPCQNGAQCYNRASDYFCKCPEDYEGKNC    491 - 560
SHLKDHCRTTPCEVIDSCTVAMASNDTPEGVRYISSNVCGPHGKCKSQSGGKFTCDCNKGFTGTYCHENI    561 - 630
NDCESNPCRNGGTCIDGVNSYKCICSDGWEGAYCETNINDCSQNPCHNGGTCRDLVNDFYCDCKNGWKGK    631 - 700
TCHSRDSQCDEATCNNGGTCYDEGDAFKCMCPGGWEGTTCNIARNSSCLPNPCHNGGTCVVNGESFTCVC    701 - 770
KEGWEGPICAQNTNDCSPHPCYNSGTCVDGDNWYRCECAPGFAGPDCRININECQSSPCAFGATCVDEIN    771 - 840
GYRCVCPPGHSGAKCQEVSGRPCITMGSVIPDGAKWDDDCNTCQCLNGRIACSKVWCGPRPCLLHKGHSE    841 - 910
CPSGQSCIPILDDQCFVHPCTGVGECRSSSLQPVKTKCTSDSYYQDNCANITFTFNKEMMSPGLTTEHIC    911 - 980
SELRNLNILKNVSAEYSIYIACEPSPSANNEIHVAISAEDIRDDGNPIKEITDKIIDLVSKRDGNSSLIA    981 - 1050
AVAEVRVQRRPLKNRTDFLVPLLSSVLTVAWICCLVTAFYWCLRKRRKPGSHTHSASEDNTTNNVREQLN   1051 - 1120
QIKNPIEKHGANTVPIKDYENKNSKMSKIRTHNSEVEEDDMDKHQQKARFAKQPAYTLVDREEKPPNGTP   1121 - 1190
TKHPNWTNKQDNRDLESAQSLNRMEYIV                                             1191 - 1218
//

Text Mined References (240)

PMID Year Title