Property Summary

NCBI Gene PubMed Count 64
PubMed Score 132.40
PubTator Score 75.68

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Alstrom syndrome 6 6.047 3.0
Cardiomyopathy, Dilated 83 0.0 0.0
Disease Target Count
Acanthosis Nigricans 27
Acquired flat foot 72
Acquired scoliosis 281
Advanced bone age 35
Alopecia 115
Asthma 385
Atherosclerosis 291
Autosomal recessive predisposition 1442
Blind Vision 111
Blindness, Legal 110
Cataract 297
Chorioretinal abnormality 21
Chronic active hepatitis 3
Chronic otitis media 52
Cognitive delay 608
Cone dystrophy 71
Cone/cone-rod dystrophy 20
Congestive heart failure 113
Curvature of spine 282
Death in early adulthood 24
Decreased visual acuity, progressive 36
Dental abnormalities 60
Diabetes Mellitus, Non-Insulin-Dependent 145
Diabetes insipidus 18
Elevated hepatic transaminases 81
Enlargement of the inner surface of the frontal bone 1
Flatfoot 73
Gingivitis 29
Global developmental delay 608
Gynecomastia 64
Hand deformities 32
Hearing loss, progressive sensorineural 23
Heart failure 162
Hepatic enzyme increased 81
Hepatomegaly 285
High density lipoprotein decreased 10
Hyperinsulinism 133
Hyperkyphosis 111
Hyperostosis Frontalis Interna 1
Hypertensive disease 292
Hypertriglyceridemia result 37
Hypertrophy of the internal surface of the frontal bone 1
Hyperuricemia 47
Hypoalphalipoproteinemias 10
Hypothyroidism 122
Idiopathic pulmonary arterial hypertension 40
Increase in blood pressure 119
Increased ossification of the internal surface of the frontal bone 1
Infectious disease of lung 29
Insulin Resistance 72
Insulin resistant diabetes 13
Irregular periods 6
Isolated somatotropin deficiency 30
Kidney Failure 111
Kyphosis deformity of spine 114
Lens Opacities 231
Liver Dysfunction 99
Liver enzymes abnormal 81
Liver function test increased 81
Liver function tests abnormal finding 81
Mental and motor retardation 608
Multinodular goiter 3
Multiple pulmonary infections 29
Nephritis 51
Nephritis, Tubulointerstitial 8
Nystagmus 317
Obesity, Abdominal 24
Otitis Media 52
Photodysphoria 121
Photophobia 121
Plaque build-up in arteries 5
Primary hypogonadism 37
Progressive visual loss 36
Pulmonary hypertension 86
Reactive airway disease 21
Recurrent pneumonia 29
Recurrent pulmonary infections 29
Recurrent respiratory infections 141
Renal Insufficiency 90
Renal failure in adulthood 76
Respiratory Insufficiency 132
Respiratory function loss 121
Retinitis Pigmentosa 226
Short stature 531
Steatohepatitis 44
Subcapsular cataract 5
Subclinical abnormal liver function tests 81
Thick inner surface of the frontal bone 1
Tooth Abnormalities 69
Transaminases increased 81
ear infection chronic 52
pulmonary arterial hypertension 76
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.3
Kidney cancer 2613 0.0 0.8
Liver cancer 604 0.0 0.6
Disease Target Count Z-score Confidence
Obesity 678 3.946 2.0
diabetes mellitus 1728 3.335 1.7
cone-rod dystrophy 59 0.0 4.0

Expression

  Differential Expression (15)

Disease log2 FC p
astrocytic glioma 2.200 3.0e-03
chronic rhinosinusitis -1.206 1.1e-02
cystic fibrosis and chronic rhinosinusit... -1.016 4.4e-02
ependymoma 2.300 2.1e-03
group 3 medulloblastoma 2.100 1.3e-05
lung cancer 1.100 9.1e-03
malignant mesothelioma 1.900 1.7e-07
medulloblastoma, large-cell 1.300 7.2e-04
Multiple myeloma -1.207 9.0e-03
oligodendroglioma 2.200 1.3e-03
osteosarcoma -1.332 2.8e-04
pancreatic ductal adenocarcinoma liver m... 1.692 3.7e-03
Pick disease 1.200 4.1e-07
primitive neuroectodermal tumor 1.300 2.0e-03
psoriasis 1.500 3.9e-04

 IMPC Phenotype (1)

 OMIM Phenotype (1)

Gene RIF (42)

AA Sequence

MEPEDLPWPGELEEEEEEEEEEEEEEEEAAAAAAANVDDVVVVEEVEEEAGRELDSDSHYGPQHLESIDD      1 - 70
EEDEEAKAWLQAHPGRILPPLSPPQHRYSEGERTSLEKIVPLTCHVWQQIVYQGNSRTQISDTNVVCLET     71 - 140
TAQRGSGDDQKTESWHCLPQEMDSSQTLDTSQTRFNVRTEDTEVTDFPSLEEGILTQSENQVKEPNRDLF    141 - 210
CSPLLVIQDSFASPDLPLLTCLTQDQEFAPDSLFHQSELSFAPLRGIPDKSEDTEWSSRPSEVSEALFQA    211 - 280
TAEVASDLASSRFSVSQHPLIGSTAVGSQCPFLPSEQGNNEETISSVDELKIPKDCDRYDDLCSYMSWKT    281 - 350
RKDTQWPENNLADKDQVSVATSFDITDENIATKRSDHFDAARSYGQYWTQEDSSKQAETYLTKGLQGKVE    351 - 420
SDVITLDGLNENAVVCSERVAELQRKPTRESEYHSSDLRMLRMSPDTVPKAPKHLKAGDTSKGGIAKVTQ    421 - 490
SNLKSGITTTPVDSDIGSHLSLSLEDLSQLAVSSLETTTGQHTDTLNQKTLADTHLTEETLKVTAIPEPA    491 - 560
DQKTATPTVLSSSHSHRGKPSIFYQQGLPDSHLTEEALKVSAAPGLADQTTGMSTLTSTSYSHREKPGTF    561 - 630
YQQELPESNLTEEPLEVSAAPGPVEQKTGIPTVSSTSHSHVEDLLFFYRQTLPDGHLTDQALKVSAVSGP    631 - 700
ADQKTGTATVLSTPHSHREKPGIFYQQEFADSHQTEETLTKVSATPGPADQKTEIPAVQSSSYSQREKPS    701 - 770
ILYPQDLADSHLPEEGLKVSAVAGPADQKTGLPTVPSSAYSHREKLLVFYQQALLDSHLPEEALKVSAVS    771 - 840
GPADGKTGTPAVTSTSSASSSLGEKPSAFYQQTLPNSHLTEEALKVSIVPGPGDQKTGIPSAPSSFYSHR    841 - 910
EKPIIFSQQTLPDFLFPEEALKVSAVSVLAAQKTGTPTVSSNSHSHSEKSSVFYQQELPDSDLPRESLKM    911 - 980
SAIPGLTDQKTVPTPTVPSGSFSHREKPSIFYQQEWPDSYATEKALKVSTGPGPADQKTEIPAVQSSSYP    981 - 1050
QREKPSVLYPQVLSDSHLPEESLKVSAFPGPADQMTDTPAVPSTFYSQREKPGIFYQQTLPESHLPKEAL   1051 - 1120
KISVAPGLADQKTGTPTVTSTSYSQHREKPSIFHQQALPGTHIPEEAQKVSAVTGPGNQKTWIPRVLSTF   1121 - 1190
YSQREKPGIFYQQTLPGSHIPEEAQKVSPVLGPADQKTGTPTPTSASYSHTEKPGIFYQQVLPDNHPTEE   1191 - 1260
ALKISVASEPVDQTTGTPAVTSTSYSQYREKPSIFYQQSLPSSHLTEEAKNVSAVPGPADQKTVIPILPS   1261 - 1330
TFYSHTEKPGVFYQQVLPHSHPTEEALKISVASEPVDQTTGTPTVTSTSYSQHTEKPSIFYQQSLPGSHL   1331 - 1400
TEEAKNVSAVPGPGDRKTGIPTLPSTFYSHTEKPGSFYQQVLPHSHLPEEALEVSVAPGPVDQTIGTPTV   1401 - 1470
TSPSSSFGEKPIVIYKQAFPEGHLPEESLKVSVAPGPVGQTTGAPTITSPSYSQHRAKSGSFYQLALLGS   1471 - 1540
QIPEEALRVSSAPGPADQTTGIPTITSTSYSFGEKPIVNYKQAFPDGHLPEEALKVSIVSGPTEKKTDIP   1541 - 1610
AGPLGSSALGEKPITFYRQALLDSPLNKEVVKVSAAPGPADQKTETLPVHSTSYSNRGKPVIFYQQTLSD   1611 - 1680
SHLPEEALKVPPVPGPDAQKTETPSVSSSLYSYREKPIVFYQQALPDSELTQEALKVSAVPQPADQKTGL   1681 - 1750
STVTSSFYSHTEKPNISYQQELPDSHLTEEALKVSNVPGPADQKTGVSTVTSTSYSHREKPIVSYQRELP   1751 - 1820
HFTEAGLKILRVPGPADQKTGINILPSNSYPQREHSVISYEQELPDLTEVTLKAIGVPGPADQKTGIQIA   1821 - 1890
SSSSYSNREKASIFHQQELPDVTEEALNVFVVPGQGDRKTEIPTVPLSYYSRREKPSVISQQELPDSHLT   1891 - 1960
EEALKVSPVSIPAEQKTGIPIGLSSSYSHSHKEKLKISTVHIPDDQKTEFPAATLSSYSQIEKPKISTVI   1961 - 2030
GPNDQKTPSQTAFHSSYSQTVKPNILFQQQLPDRDQSKGILKISAVPELTDVNTGKPVSLSSSYFHREKS   2031 - 2100
NIFSPQELPGSHVTEDVLKVSTIPGPAGQKTVLPTALPSSFSHREKPDIFYQKDLPDRHLTEDALKISSA   2101 - 2170
LGQADQITGLQTVPSGTYSHGENHKLVSEHVQRLIDNLNSSDSSVSSNNVLLNSQADDRVVINKPESAGF   2171 - 2240
RDVGSEEIQDAENSAKTLKEIRTLLMEAENMALKRCNFPAPLARFRDISDISFIQSKKVVCFKEPSSTGV   2241 - 2310
SNGDLLHRQPFTEESPSSRCIQKDIGTQTNLKCRRGIENWEFISSTTVRSPLQEAESKVSMALEETLRQY   2311 - 2380
QAAKSVMRSEPEGCSGTIGNKIIIPMMTVIKSDSSSDASDGNGSCSWDSNLPESLESVSDVLLNFFPYVS   2381 - 2450
PKTSITDSREEEGVSESEDGGGSSVDSLAAHVKNLLQCESSLNHAKEILRNAEEEESRVRAHAWNMKFNL   2451 - 2520
AHDCGYSISELNEDDRRKVEEIKAELFGHGRTTDLSKGLQSPRGMGCKPEAVCSHIIIESHEKGCFRTLT   2521 - 2590
SEHPQLDRHPCAFRSAGPSEMTRGRQNPSSCRAKHVNLSASLDQNNSHFKVWNSLQLKSHSPFQNFIPDE   2591 - 2660
FKISKGLRMPFDEKMDPWLSELVEPAFVPPKEVDFHSSSQMPSPEPMKKFTTSITFSSHRHSKCISNSSV   2661 - 2730
VKVGVTEGSQCTGASVGVFNSHFTEEQNPPRDLKQKTSSPSSFKMHSNSQDKEVTILAEGRRQSQKLPVD   2731 - 2800
FERSFQEEKPLERSDFTGSHSEPSTRANCSNFKEIQISDNHTLISMGRPSSTLGVNRSSSRLGVKEKNVT   2801 - 2870
ITPDLPSCIFLEQRELFEQSKAPRADDHVRKHHSPSPQHQDYVAPDLPSCIFLEQRELFEQCKAPYVDHQ   2871 - 2940
MRENHSPLPQGQDSIASDLPSPISLEQCQSKAPGVDDQMNKHHFPLPQGQDCVVEKNNQHKPKSHISNIN   2941 - 3010
VEAKFNTVVSQSAPNHCTLAASASTPPSNRKALSCVHITLCPKTSSKLDSGTLDERFHSLDAASKARMNS   3011 - 3080
EFNFDLHTVSSRSLEPTSKLLTSKPVAQDQESLGFLGPKSSLDFQVVQPSLPDSNTITQDLKTIPSQNSQ   3081 - 3150
IVTSRQIQVNISDFEGHSNPEGTPVFADRLPEKMKTPLSAFSEKLSSDAVTQITTESPEKTLFSSEIFIN   3151 - 3220
AEDRGHEIIEPGNQKLRKAPVKFASSSSVQQVTFSRGTDGQPLLLPYKPSGSTKMYYVPQLRQIPPSPDS   3221 - 3290
KSDTTVESSHSGSNDAIAPDFPAQVLGTRDDDLSATVNIKHKEGIYSKRVVTKASLPVGEKPLQNENADA   3291 - 3360
SVQVLITGDENLSDKKQQEIHSTRAVTEAAQAKEKESLQKDTADSSAAAAAEHSAQVGDPEMKNLPDTKA   3361 - 3430
ITQKEEIHRKKTVPEEAWPNNKESLQINIEESECHSEFENTTRSVFRSAKFYIHHPVHLPSDQDICHESL   3431 - 3500
GKSVFMRHSWKDFFQHHPDKHREHMCLPLPYQNMDKTKTDYTRIKSLSINVNLGNKEVMDTTKSQVRDYP   3501 - 3570
KHNGQISDPQRDQKVTPEQTTQHTVSLNELWNKYRERQRQQRQPELGDRKELSLVDRLDRLAKILQNPIT   3571 - 3640
HSLQVSESTHDDSRGERSVKEWSGRQQQRNKLQKKKRFKSLEKSHKNTGELKKSKVLSHHRAGRSNQIKI   3641 - 3710
EQIKFDKYILSKQPGFNYISNTSSDCRPSEESELLTDTTTNILSGTTSTVESDILTQTDREVALHERSSS   3711 - 3780
VSTIDTARLIQAFGHERVCLSPRRIKLYSSITNQQRRYLEKRSKHSKKVLNTGHPLVTSEHTRRRHIQVA   3781 - 3850
NHVISSDSISSSASSFLSSNSTFCNKQNVHMLNKGIQAGNLEIVNGAKKHTRDVGITFPTPSSSEAKLEE   3851 - 3920
NSDVTSWSEEKREEKMLFTGYPEDRKLKKNKKNSHEGVSWFVPVENVESRSKKENVPNTCGPGISWFEPI   3921 - 3990
TKTRPWREPLREQNCQGQHLDGRGYLAGPGREAGRDLLRPFVRATLQESLQFHRPDFISRSGERIKRLKL   3991 - 4060
IVQERKLQSMLQTERDALFNIDRERQGHQNRMCPLPKRVFLAIQKNKPISKKEMIQRSKRIYEQLPEVQK   4061 - 4130
KREEEKRKSEYKSYRLRAQLYKKRVTNQLLGRKVPWD                                    4131 - 4167
//

Text Mined References (67)

PMID Year Title