Property Summary

NCBI Gene PubMed Count 43
PubMed Score 119.43
PubTator Score 106.92

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
group 4 medulloblastoma 1.300 1.4e-02
acute myeloid leukemia -1.900 2.0e-02

Gene RIF (24)

PMID Text
25753737 our study expands the genotypic spectrums for EYS mutations, and may provide novel insights into the relevant pathogenesis for RP. We also demonstrate targeted next-generation sequencing approach as a valuable tool for genetic diagnosis.
25491159 Advanced retinal degenerative changes with near-total absence of rods and preservation of some perifoveal cones are observed in arRP donor retinas with EYS mutations.
25366773 New variants were found to be located on the USH2A, RPGR, EYS, and RHO genes
24961364 We confirmed with our previous findings that PTP4A1-PHF3-EYS variants were significantly associated with alcohol dependence.
24652164 Our results demonstrated that EYS mutations can be the cause of not only autosomal recessive retinitis pigmentosa but also autoisomal recessive cone-rod dystrophy.
23421333 It appears that patients share a relatively uniform phenotype with near-normal central visual function up to their twenties. The patients homozygous for the c.4957_4958insA mutation showed a uniform course of visual acuity changes.
23324950 PTP4A1-PHF3-EYS variants were associated with alcohol dependence.
22363543 This study was conducted to determine the spectrum and frequency of EYS mutations in 100 Japanese autosomal recessive retinitis pigmentosa patients.
22302105 One-third of Japanese patients with nonsyndromic autosomal recessive retinitis pigmentosa carried probable pathogenic mutations in the EYS gene, including two founder mutations
21826682 The results of this GWAS, replication, and fine mapping study provide the first reported evidence that genetic variants mutation within the EYS gene, may be associated with severe statin myopathy.
21519034 Results suggest that midsized genomic rearrangements in EYS gene would be a common event in the appearance of retinitis pigmentosa phenotype
21179430 The mutations p.D2767Y and p.D3028Y described in this study affect highly conserved residues at homologous positions in laminin A G-like domains and support the notion that missense mutations in EYS can cause autosomal recessive retinitis pigmentosa.
21069908 Report the identification of 73 sequence variations in EYS, of which 28 are novel. Of these, 42.9% (12/28) are very likely pathogenic, 17.9% (5/28)are possibly pathogenic, whereas 39.3% (11/28) are SNPs.
20696082 a single nucleotide substitution of G to T at nucleotide 5506 was identified in a Chinese arRP family, causing a substitution of a glutamic acid residue at codon 1,836 by a stop codon TAA (p.E1836X), resulting in a truncated protein with 1,835 amino acids
20537394 Mutations in EYS account for approximately 5% of autosomal recessive RP (retinitis pigmetosa) patients.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20375346 EYS is currently the most commonly mutated autosomal recessive retinitis pigmentosa gene in the Israeli population, mainly due to founder mutations
20333770 Data identified novel mutations in EYS in a total of 29 patients: Fifteen of the mutations were predicted to create premature stop codons and two represent exonic deletions. Twenty missense, silent or splice-site mutations were detected.
20333770 Observational study of gene-disease association. (HuGE Navigator)
20237254 EYS is a major causative gene for recessive retinitis pigmentosa and emphasize the role of different types of mutations in disrupting the function of EYS.
18976725 EYS is identified as a human ortholog of Drosopbhila eys, which is mutated in patients with retinitis pigmentosa.
18836446 EYS, at the RP25 locus on chromosome 6q12 commonly mutated in autosomal recessive retinitis pigmentosa, is identified.
18510647 In order to validate the original linkage of RP25, study undertook a total genome scan using the 10K GeneChip mapping array on 3 of the previously linked families; data obtained supported the initial findings of linkage.
18510646 To study if copy number variation exists within RP25, comparative genomic hybridization analysis on a consanguineous family revealed a clone, chr6tp-19C7, spanning 100-Kb was deleted in all affected members of the family.

AA Sequence

MTDKSIVILSLMVFHSSFINGKTCRRQLVEEWHPQPSSYVVNWTLTENICLDFYRDCWFLGVNTKIDTSG      1 - 70
NQAVPQICPLQIQLGDILVISSEPSLQFPEINLMNVSETSFVGCVQNTTTEDQLLFGCRLKGMHTVNSKW     71 - 140
LSVGTHYFITVMASGPSPCPLGLRLNVTVKQQFCQESLSSEFCSGHGKCLSEAWSKTYSCHCQPPFSGKY    141 - 210
CQELDACSFKPCKNNGSCINKRENWDEQAYECVCHPPFTGKNCSEIIGQCQPHVCFHGNCSNITSNSFIC    211 - 280
ECDEQFSGPFCEVSAKPCVSLLFWKRGICPNSSSAYTYECPKGSSSQNGETDVSEFSLVPCQNGTDCIKI    281 - 350
SNDVMCICSPIFTDLLCKSIQTSCESFPLRNNATCKKCEKDYPCSCISGFTEKNCEKAIDHCKLLSINCL    351 - 420
NEEWCFNIIGRFKYVCIPGCTKNPCWFLKNVYLIHQHLCYCGVTFHGICQDKGPAQFEYVWQLGFAGSEG    421 - 490
EKCQGVIDAYFFLAANCTEDATYVNDPEDNNSSCWFPHEGTKEICANGCSCLSEEDSQEYRYLCFLRWAG    491 - 560
NMYLENTTDDQENECQHEAVCKDEINRPRCSCSLSYIGRLCVVNVDYCLGNHSISVHGLCLALSHNCNCS    561 - 630
GLQRYERNICEIDTEDCKSASCKNGTTSTHLRGYFFRKCVPGFKGTQCEIDIDECASHPCKNGATCIDQP    631 - 700
GNYFCQCVPPFKVVDGFSCLCNPGYVGIRCEQDIDDCILNACEHNSTCKDLHLSYQCVCLSDWEGNFCEQ    701 - 770
ESNECKMNPCKNNSTCTDLYKSYRCECTSGWTGQNCSEEINECDSDPCMNGGLCHESTIPGQFVCLCPPL    771 - 840
YTGQFCHQRYNLCDLLHNPCRNNSTCLALVDANQHCICREEFEGKNCEIDVKDCLFLSCQDYGDCEDMVN    841 - 910
NFRCICRPGFSGSLCEIEINECSSEPCKNNGTCVDLTNRFFCNCEPEYHGPFCELDVNKCKISPCLDEEN    911 - 980
CVYRTDGYNCLCAPGYTGINCEINLDECLSEPCLHDGVCIDGINHYTCDCKSGFFGTHCETNANDCLSNP    981 - 1050
CLHGRCTELINEYPCSCDADGTSTQCKIKINDCTSIPCMNEGFCQKSAHGFTCICPRGYTGAYCEKSIDN   1051 - 1120
CAEPELNSVICLNGGICVDGPGHTFDCRCLPGFSGQFCEININECSSSPCLHGADCEDHINGYVCKCQPG   1121 - 1190
WSGHHCENELECIPNSCVHELCMENEPGSTCLCTPGFMTCSIGLLCGDEIRRITCLTPIFQRTDPISTQT   1191 - 1260
YTIPPSETLVSSFPSIKATRIPAIMDTYPVDQGPKQTGIVKHDILPTTGLATLRISTPLESYLLQELIVT   1261 - 1330
RELSAKHSLLSSADVSSSRFLNFGIRDPAQIVQDKTSVSHMPIRTSAATLGFFFPDRRARTPFIMSSLMS   1331 - 1400
DFIFPTQSLLFENCQTVALSATPTTSVIRSIPGADIELNRQSLLSRGFLLIAASISATPVVSRGAQEDIE   1401 - 1470
EYSADSLISRREHWRLLSPSMSPIFPAKVIISKQVTILNSSALHRFSTKAFNPSEYQAITEASSNQRLTN   1471 - 1540
IKSQAADSLRELSQTCATCSMTEIKSSREFSDQVLHSKQSHFYETFWMNSAILASWYALMGAQTITSGHS   1541 - 1610
FSSATEITPSVAFTEVPSLFPSKKSAKRTILSSSLEESITLSSNLDVNLCLDKTCLSIVPSQTISSDLMN   1611 - 1680
SDLTSKMTTDELSVSENILKLLKIRQYGITMGPTEVLNQESLLDMEKSKGSHTLFKLHPSDSSLDFELNL   1681 - 1750
QIYPDVTLKTYSEITHANDFKNNLPPLTGSVPDFSEVTTNVAFYTVSATPALSIQTSSSMSVIRPDWPYF   1751 - 1820
TDYMTSLKKEVKTSSEWSKWELQPSVQYQEFPTASRHLPFTRSLTLSSLESILAPQRLMISDFSCVRYYG   1821 - 1890
DSYLEFQNVALNPQNNISLEFQTFSSYGLLLYVKQDSNLVDGFFIQLFIENGTLKYHFYCPGEAKFKSIN   1891 - 1960
TTVRVDNGQKYTLLIRQELDPCNAELTILGRNTQICESINHVLGKPLPKSGSVFIGGFPDLHGKIQMPVP   1961 - 2030
VKNFTGCIEVIEINNWRSFIPSKAVKNYHINNCRSQGFMLSPTASFVDASDVTQGVDTMWTSVSPSVAAP   2031 - 2100
SVCQQDVCHNGGTCHAIFLSSGIVSFQCDCPLHFTGRFCEKDAGLFFPSFNGNSYLELPFLKFVLEKEHN   2101 - 2170
RTVTIYLTIKTNSLNGTILYSNGNNCGKQFLHLFLVEGRPSVKYGCGNSQNILTVSANYSINTNAFTPIT   2171 - 2240
IRYTTPVGSPGVVCMIEMTADGKPPVQKKDTEISHASQAYFESMFLGHIPANVQIHKKAGPVYGFRGCIL   2241 - 2310
DLQVNNKEFFIIDEARHGKNIENCHVPWCAHHLCRNNGTCISDNENLFCECPRLYSGKLCQFASCENNPC   2311 - 2380
GNGATCVPKSGTDIVCLCPYGRSGPLCTDAINITQPRFSGTDAFGYTSFLAYSRISDISFHYEFHLKFQL   2381 - 2450
ANNHSALQNNLIFFTGQKGHGLNGDDFLAVGLLNGSVVYSYNLGSGIASIRSEPLNLSLGVHTVHLGKFF   2451 - 2520
QEGWLKVDDHKNKSIIAPGRLVGLNVFSQFYVGGYSEYTPDLLPNGADFKNGFQGCIFTLQVRTEKDGHF   2521 - 2590
RGLGNPEGHPNAGRSVGQCHASPCSLMKCGNGGTCIESGTSVYCNCTTGWKGSFCTETVSTCDPEHDPPH   2591 - 2660
HCSRGATCISLPHGYTCFCPLGTTGIYCEQALILIVILEKPKPAERKVKKEALSISDPSFRSNELSWMSF   2661 - 2730
ASFHVRKKTHIQLQFQPLAADGILFYAAQHLKAQSGDFLCISLVNSSVQLRYNLGDRTIILETLQKVTIN   2731 - 2800
GSTWHIIKAGRVGAEGYLDLDGINVTEKASTKMSSLDTNTDFYIGGVSSLNLVNPMAIENEPVGFQGCIR   2801 - 2870
QVIINNQELQLTEFGAKGGSNVGDCDGTACGYNTCRNGGECTVNGTTFSCRCLPDWAGNTCNQSVSCLNN   2871 - 2940
LCLHQSLCIPDQSFSYSCLCTLGWVGRYCENKTSFSTAKFMGNSYIKYIDPNYRMRNLQFTTISLNFSTT   2941 - 3010
KTEGLIVWMGIAQNEENDFLAIGLHNQTLKIAVNLGERISVPMSYNNGTFCCNKWHHVVVIQNQTLIKAY   3011 - 3080
INNSLILSEDIDPHKNFVALNYDGICYLGGFEYGRKVNIVTQEIFKTNFVGKIKDVVFFQEPKNIELIKL   3081 - 3150
EGYNVYDGDEQNEVT                                                          3151 - 3165
//

Text Mined References (43)

PMID Year Title
25753737 2015 Targeted next-generation sequencing reveals novel EYS mutations in Chinese families with autosomal recessive retinitis pigmentosa.
25491159 2015 Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations.
25366773 2014 Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.
24980573 2014 Identification of a melanoma susceptibility locus and somatic mutation in TET2.
24961364 Common PTP4A1-PHF3-EYS variants are specific for alcohol dependence.
24652164 2014 Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene.
24618324 2014 Whole exome sequencing in Thai patients with retinitis pigmentosa reveals novel mutations in six genes.
24479813 2014 ANKS1B is a smoking-related molecular alteration in clear cell renal cell carcinoma.
24474277 2014 Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.
24043777 2013 Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.
23934736 2013 Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
23720494 2013 Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
23421333 2014 Clinical phenotype in ten unrelated Japanese patients with mutations in the EYS gene.
23382691 2013 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
23324950 2013 Association of rare PTP4A1-PHF3-EYS variants with alcohol dependence.
22993228 2013 Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.
22363543 2012 Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population.
22302105 2012 High prevalence of mutations in the EYS gene in Japanese patients with autosomal recessive retinitis pigmentosa.
22128245 2011 Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.
21826682 2011 Association of common variants in the human eyes shut ortholog (EYS) with statin-induced myopathy: evidence for additional functions of EYS.
21738389 2011 A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.
21697133 2011 Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.
21519034 2011 Copy-number variations in EYS: a significant event in the appearance of arRP.
21179430 2010 Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa.
21069908 2010 Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.
20696082 2010 Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa.
20537394 2010 Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20375346 2010 Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.
20333770 2010 EYS is a major gene for rod-cone dystrophies in France.
20237254 2010 Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18976725 2008 Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.
18836446 2008 EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.
18510647 2008 Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families.
18510646 2008 Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11181995 2001 The sequence of the human genome.
10417302 1999 Refinement of the locus for autosomal recessive Retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin.
9585594 1998 A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters.