Property Summary

NCBI Gene PubMed Count 16
PubMed Score 317.30
PubTator Score 13.92

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormal skeletal development 60
Abnormality of pelvic girdle bone morphology 37
Abnormality of retinal pigmentation 111
Abnormality of the clavicle 14
Abnormality of the metaphyses 48
Abnormality of the retinal vasculature 59
Abnormality of the ribs 32
Anteverted nostril 191
Attenuation of retinal blood vessels 16
Atypical scarring of skin 62
Autosomal recessive predisposition 1442
Bell-shaped thorax 10
Blind Vision 111
Blindness, Legal 110
Brachydactyly 156
Broad flat nasal bridge 236
Cataract 297
Cholestasis 155
Chronic Kidney Diseases 13
Conductive hearing loss 123
Cone-shaped epiphyses 24
Cone-shaped epiphyses of phalanges 15
Congenital anomaly of testis 52
Congenital hypoplasia of ovary 30
Congenital hypoplasia of penis 176
Delayed speech and language development 112
Dull intelligence 645
Electroretinogram abnormal 95
Elevated hepatic transaminases 81
Fibrosis, Liver 32
Glaucoma 239
Hepatic enzyme increased 81
Hepatomegaly 285
Hyperinsulinism 133
Hypertensive disease 292
Hypogonadism 173
Hypoplastic feet 66
Hypoplastic ovary 30
Increase in blood pressure 119
Intellectual disability 1016
Jeune thoracic dystrophy 10
Keratoconus 113
Language Delay 112
Lens Opacities 231
Liver Dysfunction 99
Liver Failure 73
Liver enzymes abnormal 81
Liver function test increased 81
Liver function tests abnormal finding 81
Low intelligence 645
Mainzer-Saldino Disease 2
Mental Retardation 645
Mental deficiency 645
Micromelia 58
Multicystic Dysplastic Kidney 52
Narrow thorax 53
Nasal bridge wide 236
Nephronophthisis 80
Night blindness, progressive 51
Nystagmus 317
Obesity 678
Ophthalmoplegia 106
Optic Atrophy 242
Osteochondrodysplasias 72
Pallor of optic disc 39
Pancreatitis 123
Photodysphoria 121
Photophobia 121
Poor school performance 645
Progressive renal failure 13
Respiratory Insufficiency 132
Respiratory function loss 121
Retinal Degeneration 106
Retinal pigment epithelial abnormality 111
Sensorineural Hearing Loss (disorder) 284
Short ribs 30
Short stature 531
Short thorax 21
Short tubular bones 22
Speech Delay 112
Speech impairment 112
Splenomegaly 190
Sternal anomalies 19
Subclinical abnormal liver function tests 81
Thoracic dysplasia 3
Thoracic hypoplasia 14
Transaminases increased 81
Ulnar polydactyly of fingers 47
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.0
Kidney cancer 2613 0.0 0.7
Disease Target Count Z-score Confidence
Joubert syndrome 66 0.0 5.0

Expression

Gene RIF (4)

AA Sequence

MHLKHLRTLLSPQDGAAKVTCMAWSQNNAKFAVCTVDRVVLLYDEHGERRDKFSTKPADMKYGRKSYMVK      1 - 70
GMAFSPDSTKIAIGQTDNIIYVYKIGEDWGDKKVICNKFIQTSAVTCLQWPAEYIIVFGLAEGKVRLANT     71 - 140
KTNKSSTIYGTESYVVSLTTNCSGKGILSGHADGTIVRYFFDDEGSGESQGKLVNHPCPPYALAWATNSI    141 - 210
VAAGCDRKIVAYGKEGHMLQTFDYSRDPQEREFTTAVSSPGGQSVVLGSYDRLRVFNWIPRRSIWEEAKP    211 - 280
KEITNLYTITALAWKRDGSRLCVGTLCGGVEQFDCCLRRSIYKNKFELTYVGPSQVIVKNLSSGTRVVLK    281 - 350
SHYGYEVEEVKILGKERYLVAHTSETLLLGDLNTNRLSEIAWQGSGGNEKYFFENENVCMIFNAGELTLV    351 - 420
EYGNNDTLGSVRTEFMNPHLISVRINERCQRGTEDNKKLAYLIDIKTIAIVDLIGGYNIGTVSHESRVDW    421 - 490
LELNETGHKLLFRDRKLRLHLYDIESCSKTMILNFCSYMQWVPGSDVLVAQNRNSLCVWYNIEAPERVTM    491 - 560
FTIRGDVIGLERGGGKTEVMVMEGVTTVAYTLDEGLIEFGTAIDDGNYIRATAFLETLEMTPETEAMWKT    561 - 630
LSKLALEARQLHIAERCFSALGQVAKARFLHETNEIADQVSREYGGEGTDFYQVRARLAMLEKNYKLAEM    631 - 700
IFLEQNAVEEAMGMYQELHRWDECIAVAEAKGHPALEKLRRSYYQWLMDTQQEERAGELQESQGDGLAAI    701 - 770
SLYLKAGLPAKAARLVLTREELLANTELVEHITAALIKGELYERAGDLFEKIHNPQKALECYRKGNAFMK    771 - 840
AVELARLAFPVEVVKLEEAWGDHLVQQKQLDAAINHYIEARCSIKAIEAALGARQWKKAIYILDLQDRNT    841 - 910
ASKYYPLVAQHYASLQEYEIAEELYTKGDRTKDAIDMYTQAGRWEQAHKLAMKCMRPEDVSVLYITQAQE    911 - 980
MEKQGKYREAERLYVTVQEPDLAITMYKKHKLYDDMIRLVGKHHPDLLSDTHLHLGKELEAEGRLQEAEY    981 - 1050
HYLEAQEWKATVNMYRASGLWEEAYRVARTQGGANAHKHVAYLWAKSLGGEAAVRLLNKLGLLEAAVDHA   1051 - 1120
ADNCSFEFAFELSRLALKHKTPEVHLKYAMFLEDEGKFEEAEAEFIRAGKPKEAVLMFVHNQDWEAAQRV   1121 - 1190
AEAHDPDSVAEVLVGQARGALEEKDFQKAEGLLLRAQRPGLALNYYKEAGLWSDALRICKDYVPSQLEAL   1191 - 1260
QEEYEREATKKGARGVEGFVEQARHWEQAGEYSRAVDCYLKVRDSGNSGLAEKCWMKAAELSIKFLPPQR   1261 - 1330
NMEVVLAVGPQLIGIGKHSAAAELYLNLDLVKEAIDAFIEGEEWNKAKRVAKELDPRYEDYVDQHYKEFL   1331 - 1400
KNQGKVDSLVGVDVIAALDLYVEQGQWDKCIETATKQNYKILHKYVALYATHLIREGSSAQALALYVQHG   1401 - 1470
APANPQNFNIYKRIFTDMVSSPGTNCAEAYHSWADLRDVLFNLCENLVKSSEANSPAHEEFKTMLLIAHY   1471 - 1540
YATRSAAQSVKQLETVAARLSVSLLRHTQLLPVDKAFYEAGIAAKAVGWDNMAFIFLNRFLDLTDAIEEG   1541 - 1610
TLDGLDHSDFQDTDIPFEVPLPAKQHVPEAEREEVRDWVLTVSMDQRLEQVLPRDERGAYEASLVAASTG   1611 - 1680
VRALPCLITGYPILRNKIEFKRPGKAANKDNWNKFLMAIKTSHSPVCQDVLKFISQWCGGLPSTSFSFQ    1681 - 1749
//

Text Mined References (17)

PMID Year Title