Property Summary

NCBI Gene PubMed Count 43
Grant Count 10
Funding $1,032,243.39
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 0.014
acute myeloid leukemia -1.900 0.020

Synonym

Accession Q5T1H1 A2RUR2 A8MVE7 B7TYK8 B7UUQ3 B7ZBE7 B7ZBE8 B7ZBR3 B9ZVD2 Q5SZM4 Q5T3C8 Q5T669 Q5TEL3 Q5TEL4 Q5VVG4 Q6UY05 Q9H557 Q9NQ15
Symbols RP25
SPAM
EGFL10
EGFL11
C6orf178
C6orf179
C6orf180
bA74E24.1
dJ22I17.2
bA166P24.2
bA307F22.3
dJ1018A4.2
dJ303F19.1

Gene

EYS

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.
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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.
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