Property Summary

NCBI Gene PubMed Count 197
PubMed Score 511.09
PubTator Score 495.07

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Age related macular degeneration 72
Cone dystrophy 71
Night Blindness 101
Abnormal color vision 31
Abnormal eye movements, paroxysmal 5
Abnormal vision 52
Abnormal visual evoked potential 26
Abnormality of macular pigmentation 16
Abnormality of retinal pigmentation 111
Abnormality of the choroid 7
Abnormality of the fovea 5
Abnormality of the retinal vasculature 59
Anteverted nostril 191
Aplasia/Hypoplasia of the macula 8
Attenuation of retinal blood vessels 16
Atypical scarring of skin 62
Autosomal recessive predisposition 1442
Blind Vision 111
Blind spot located at fixation point 21
Blindness, Legal 110
Broad flat nasal bridge 236
CONE-ROD DYSTROPHY 3 (disorder) 1
Cataract 297
Choroid Diseases 7
Color vision defect 33
Color vision defect, severe 31
Conductive hearing loss 123
Cone/cone-rod dystrophy 20
Congenital anomaly of testis 52
Congenital hypoplasia of penis 176
Difficulties with night vision 87
Dull intelligence 645
Electroretinogram abnormal 95
Fundus with peripheral 'bony spicules' 12
Glaucoma 239
Hyperinsulinism 133
Hypogonadism 173
Intellectual disability 1016
Keratoconus 113
Lens Opacities 231
Loss of retinal pigment epithelium 10
Low Vision 174
Low intelligence 645
Macular pigmentary changes 16
Mental Retardation 645
Mental deficiency 645
Nasal bridge wide 236
Night blindness, progressive 51
Nystagmus 317
Obesity 678
Ophthalmoplegia 106
Optic Atrophy 242
Pallor of optic disc 39
Photodysphoria 121
Photophobia 121
Poor school performance 645
Reduced visual acuity 63
Retinal pigment epithelial abnormality 111
Retinal thinning 7
Retinitis pigmentosa inversa 2
STARGARDT DISEASE 1 (disorder) 2
Salt and pepper retinal pigmentation 8
Scotoma, Central 21
Sensorineural Hearing Loss (disorder) 284
Stargardt's disease 6
Visual Impairment 174
Visual field constriction 36
Yellow/white lesions of the macula 5
Disease Target Count P-value
psoriasis 6694 1.4e-20
medulloblastoma, large-cell 6241 6.4e-05
lung adenocarcinoma 2716 1.1e-04
osteosarcoma 7950 3.8e-04
Disease Target Count Z-score Confidence
Kidney disease 430 0.0 1.0
Orofacial cleft 54 0.0 3.0

Expression

  Differential Expression (4)

Disease log2 FC p
lung adenocarcinoma 2.300 1.1e-04
medulloblastoma, large-cell 1.200 6.4e-05
osteosarcoma 1.225 3.8e-04
psoriasis -1.100 1.4e-20

Gene RIF (169)

AA Sequence

MGFVRQIQLLLWKNWTLRKRQKIRFVVELVWPLSLFLVLIWLRNANPLYSHHECHFPNKAMPSAGMLPWL      1 - 70
QGIFCNVNNPCFQSPTPGESPGIVSNYNNSILARVYRDFQELLMNAPESQHLGRIWTELHILSQFMDTLR     71 - 140
THPERIAGRGIRIRDILKDEETLTLFLIKNIGLSDSVVYLLINSQVRPEQFAHGVPDLALKDIACSEALL    141 - 210
ERFIIFSQRRGAKTVRYALCSLSQGTLQWIEDTLYANVDFFKLFRVLPTLLDSRSQGINLRSWGGILSDM    211 - 280
SPRIQEFIHRPSMQDLLWVTRPLMQNGGPETFTKLMGILSDLLCGYPEGGGSRVLSFNWYEDNNYKAFLG    281 - 350
IDSTRKDPIYSYDRRTTSFCNALIQSLESNPLTKIAWRAAKPLLMGKILYTPDSPAARRILKNANSTFEE    351 - 420
LEHVRKLVKAWEEVGPQIWYFFDNSTQMNMIRDTLGNPTVKDFLNRQLGEEGITAEAILNFLYKGPRESQ    421 - 490
ADDMANFDWRDIFNITDRTLRLVNQYLECLVLDKFESYNDETQLTQRALSLLEENMFWAGVVFPDMYPWT    491 - 560
SSLPPHVKYKIRMDIDVVEKTNKIKDRYWDSGPRADPVEDFRYIWGGFAYLQDMVEQGITRSQVQAEAPV    561 - 630
GIYLQQMPYPCFVDDSFMIILNRCFPIFMVLAWIYSVSMTVKSIVLEKELRLKETLKNQGVSNAVIWCTW    631 - 700
FLDSFSIMSMSIFLLTIFIMHGRILHYSDPFILFLFLLAFSTATIMLCFLLSTFFSKASLAAACSGVIYF    701 - 770
TLYLPHILCFAWQDRMTAELKKAVSLLSPVAFGFGTEYLVRFEEQGLGLQWSNIGNSPTEGDEFSFLLSM    771 - 840
QMMLLDAAVYGLLAWYLDQVFPGDYGTPLPWYFLLQESYWLGGEGCSTREERALEKTEPLTEETEDPEHP    841 - 910
EGIHDSFFEREHPGWVPGVCVKNLVKIFEPCGRPAVDRLNITFYENQITAFLGHNGAGKTTTLSILTGLL    911 - 980
PPTSGTVLVGGRDIETSLDAVRQSLGMCPQHNILFHHLTVAEHMLFYAQLKGKSQEEAQLEMEAMLEDTG    981 - 1050
LHHKRNEEAQDLSGGMQRKLSVAIAFVGDAKVVILDEPTSGVDPYSRRSIWDLLLKYRSGRTIIMSTHHM   1051 - 1120
DEADLLGDRIAIIAQGRLYCSGTPLFLKNCFGTGLYLTLVRKMKNIQSQRKGSEGTCSCSSKGFSTTCPA   1121 - 1190
HVDDLTPEQVLDGDVNELMDVVLHHVPEAKLVECIGQELIFLLPNKNFKHRAYASLFRELEETLADLGLS   1191 - 1260
SFGISDTPLEEIFLKVTEDSDSGPLFAGGAQQKRENVNPRHPCLGPREKAGQTPQDSNVCSPGAPAAHPE   1261 - 1330
GQPPPEPECPGPQLNTGTQLVLQHVQALLVKRFQHTIRSHKDFLAQIVLPATFVFLALMLSIVIPPFGEY   1331 - 1400
PALTLHPWIYGQQYTFFSMDEPGSEQFTVLADVLLNKPGFGNRCLKEGWLPEYPCGNSTPWKTPSVSPNI   1401 - 1470
TQLFQKQKWTQVNPSPSCRCSTREKLTMLPECPEGAGGLPPPQRTQRSTEILQDLTDRNISDFLVKTYPA   1471 - 1540
LIRSSLKSKFWVNEQRYGGISIGGKLPVVPITGEALVGFLSDLGRIMNVSGGPITREASKEIPDFLKHLE   1541 - 1610
TEDNIKVWFNNKGWHALVSFLNVAHNAILRASLPKDRSPEEYGITVISQPLNLTKEQLSEITVLTTSVDA   1611 - 1680
VVAICVIFSMSFVPASFVLYLIQERVNKSKHLQFISGVSPTTYWVTNFLWDIMNYSVSAGLVVGIFIGFQ   1681 - 1750
KKAYTSPENLPALVALLLLYGWAVIPMMYPASFLFDVPSTAYVALSCANLFIGINSSAITFILELFENNR   1751 - 1820
TLLRFNAVLRKLLIVFPHFCLGRGLIDLALSQAVTDVYARFGEEHSANPFHWDLIGKNLFAMVVEGVVYF   1821 - 1890
LLTLLVQRHFFLSQWIAEPTKEPIVDEDDDVAEERQRIITGGNKTDILRLHELTKIYPGTSSPAVDRLCV   1891 - 1960
GVRPGECFGLLGVNGAGKTTTFKMLTGDTTVTSGDATVAGKSILTNISEVHQNMGYCPQFDAIDELLTGR   1961 - 2030
EHLYLYARLRGVPAEEIEKVANWSIKSLGLTVYADCLAGTYSGGNKRKLSTAIALIGCPPLVLLDEPTTG   2031 - 2100
MDPQARRMLWNVIVSIIREGRAVVLTSHSMEECEALCTRLAIMVKGAFRCMGTIQHLKSKFGDGYIVTMK   2101 - 2170
IKSPKDDLLPDLNPVEQFFQGNFPGSVQRERHYNMLQFQVSSSSLARIFQLLLSHKDSLLIEEYSVTQTT   2171 - 2240
LDQVFVNFAKQQTESHDLPLHPRAAGASRQAQD                                        2241 - 2273
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Text Mined References (199)

PMID Year Title