Property Summary

NCBI Gene PubMed Count 13
PubMed Score 17.93
PubTator Score 12.70

Knowledge Summary

Patent

No data available

Expression

Gene RIF (5)

PMID Text
27343256 This article confirms in silico predictions of aberrant splicing in the EPG5 gene due to the mutation NM_020964.2; c.1007A>G p.Gln336Arg
25331754 A mutation affecting the penultimate exon of EPG5 and presenting with typical clinical manifestations of Vici syndrome.
23222957 Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
18649358 Observational study of gene-disease association. (HuGE Navigator)
17549423 We characterized the KIAA1632 gene by computational methods: detailed investigation of the genomic structure, protein prediction, identification of orthologs in other species and phylogenetic analysis.

AA Sequence

MAEAVKPQRRAKAKASRTKTKEKKKYETPQREESSEVSLPKTSREQEIPSLACEFKGDHLKVVTDSQLQD      1 - 70
DASGQNESEMFDVPLTSLTISNEESLTCNTEPPKEGGEARPCVGDSAVTPKVHPGDNVGTKVETPKNFTE     71 - 140
VEENMSVQGGLSESAPQSNFSYTQPAMENIQVRETQNSKEDKQGLVCSSEVPQNVGLQSSCPAKHGFQTP    141 - 210
RVKKLYPQLPAEIAGEAPALVAVKPLLRSERLYPELPSQLELVPFTKEQLKILEPGSWLENVESYLEEFD    211 - 280
SMAHQDRHEFYELLLNYSRCRKQLLLAEAELLTLTSDCQNAKSRLWQFKEEQMSVQGICADQVKVFSYHR    281 - 350
YQRVEMNENALVELKKLFDAKSEHLHQTLALHSYTSVLSRLQVESYIYALLSSSAVLRSSAIHQQGRASK    351 - 420
QTESIPSDLCQLKECISVLFMFTRRVNEDTQFHDDILLWLQKLVSVLQRVGCPGDHLFLLNHILRCPAGV    421 - 490
SKWAVPFIQIKVLHNPSGVFHFMQSLALLMSPVKNRAEFMCHMKPSERKPSSSGPGSGTWTLVDEGGEED    491 - 560
EDPETSWILLNEDDLVTILAQFPFHELFQHLLGFKAKGDYLPETTRPQEMMKIFAFANSLVELLAVGLET    561 - 630
FNRARYRQFVKRIGYMIRMTLGYVSDHWAQYVSHNQGSGLAQQPYSMEKLQVEFDELFLRAVLHVLKAKR    631 - 700
LGIWLFMSEMPFGTLSVQMLWKLFYLMHQVESENLQQLSSSLQPAQCKQQLQDPEHFTNFEKCLSSMNSS    701 - 770
EEICLLTTFAQMAQARRTNVDEDFIKIIVLEIYEVSYVTLSTRETFSKVGRELLGTITAVHPEIISVLLD    771 - 840
RVQETIDQVGMVSLYLFKELPLYLWQPSASEIAVIRDWLLNYNLTVVKNKLACVILEGLNWGFAKQATLH    841 - 910
LDQAVHAEVALMVLEAYQKYLAQKPYAGILSESMKQVSYLASIVRYGETPETSFNQWAWNLILRLKLHKN    911 - 980
DYGIQPNCPAVPFSVTVPDMTESPTFHPLLKAVKAGMPIGCYLALSMTAVGHSIEKFCAEGIPLLGILVQ    981 - 1050
SRHLRTVVHVLDKILPLFYPCQYYLLKNEQFLSHLLLFLHLDSGVPQGVTQQVTHKVAQHLTGASHGDNV   1051 - 1120
KLLNSMIQAHISVSTQPNEVGPVAVLEFWVQALISQHLWYREQPILFLMDHLCKAAFQLMQEDCIQKLLY   1121 - 1190
QQHKNALGYHCDRSLLSSLVSWIVAGNITPSFVEGLATPTQVWFAWTVLNMESIFEEDSQLRRVIEGELV   1191 - 1260
INSAFTPDQALKKAQTQLKLPIVPSLQRLLIYRWAHQALVTPSDHPLLPLIWQKFFLLYLHRPGPQYGLP   1261 - 1330
IDGCIGRRFFQSPAHINLLKEMKRRLTEVADFHHAASKALRVPAEGSEGLPESHSGTPGYLTSPELHKEL   1331 - 1400
VRLFNVYILWLEDENFQKGDTYIPSLPKHYDIHRLAKVMQNQQDLWMEYLNMERIYHEFQETVGLWTQAK   1401 - 1470
LESHSTPCSLSVQLDFTDPLLAKERVLSNLRKHEAPQPPLALHPTKPPVPVISSAVLLSQKDATQLVCTD   1471 - 1540
LNLLQQQARTAALRESQQVALDGELLDTMPKQYVNREEQTTLHLECRGSSGKKCQGAAVVTVQFEGMHKN   1541 - 1610
EAISQQLHVLRKEVKQLQAEAAKPPSLNIVEAAVHAENLITALVNAYKLQPTPGIQKVGISLFFTIVDYV   1611 - 1680
SDETQRHPPTRQFFTSCIEILGQVFISGIKSECRKVLETILKNSRLCSLLSPFFTPNAAPAEFIQLYEQV   1681 - 1750
VKFLSEDNSDMIFMLLTKFDLKQWLSATKPPLSDRTRLLESIHLALTAWGLEPDEDILMPFNLFCKHWTY   1751 - 1820
LLLYQFPDQYSDILRLLMQSSAEQLLSPECWKATLRALGCCAPSCQQGAASTEGAVLPSSSDALLSDKQV   1821 - 1890
METIQWLSDFFYKLRLSKMDFKSFGLFSKWSPYMADVKTFLGYLVKRLIDLEMTCLAQDPTASRKTVLKS   1891 - 1960
LHSVIIQLFKPWILVLEDNESSQQRHYPWLESDTVVASSIVQLFTDCIDSLHESFKDKLLPGDAGALWLH   1961 - 2030
LMHYCEACTAPKMPEFILYAFHSTYRKLPWKDLHPDQMLMEAFFKVERGSPKSCFLFLGSVLCEVNWVSV   2031 - 2100
LSDAWNSSPHPETRSMIVCLLFMMILLAKEVQLVDQTDSPLLSLLGQTSSLSWHLVDIVSYQSVLSYFSS   2101 - 2170
HYPPSIILAKESYAELIMKLLKVSAGLSIPTDSQKHLDAVPKCQAFTHQMVQFLSTLEQNGKITLAVLEQ   2171 - 2240
EMSKLLDDIIVFNPPDMDSQTRHMALSSLFMEVLMMMNNATIPTAEFLRGSIRTWIGQKMHGLVVLPLLT   2241 - 2310
AACQSLASVRHMAETTEACITAYFKESPLNQNSGWGPILVSLQVPELTMEEFLQECLTLGSYLTLYVYLL   2311 - 2380
QCLNSEQTLRNEMKVLLILSKWLEQVYPSSVEEEAKLFLWWHQVLQLSLIQTEQNDSVLTESVIRILLLV   2381 - 2450
QSRQNLVAEERLSSGILGAIGFGRKSPLSNRFRVVARSMAAFLSVQVPMEDQIRLRPGSELHLTPKAQQA   2451 - 2520
LNALESMASSKQYVEYQDQILQATQFIRHPGHCLQDGKSFLALLVNCLYPEVHYLDHIR              2521 - 2579
//

Text Mined References (17)

PMID Year Title
27343256 2016 Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.
25331754 2014 First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.
23838600 2014 Clinical utility gene card for: Vici Syndrome.
23222957 2013 Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
20550938 2010 C. elegans screen identifies autophagy genes specific to multicellular organisms.
18649358 2008 Replication of a genome-wide case-control study of esophageal squamous cell carcinoma.
17549423 2007 Comparative integromics on the breast cancer-associated gene KIAA1632: clues to a cancer antigen domain.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
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