LOCUS       NM_020964              12688 bp    mRNA    linear   PRI 06-OCT-2024
DEFINITION  Homo sapiens ectopic P-granules 5 autophagy tethering factor
            (EPG5), transcript variant 1, mRNA.
ACCESSION   NM_020964 XM_038864
VERSION     NM_020964.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 12688)
  AUTHORS   Vansenne,F., Fock,J.M., Stolte-Dijkstra,I., Meiners,L.C., van den
            Boogaard,M.H., Jaeger,B., Boven,L., Vos,Y.J., Sinke,R.J. and
            Verbeek,D.S.
  TITLE     Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch
            patients carrying a founder variant
  JOURNAL   Eur J Paediatr Neurol 41, 91-98 (2022)
   PUBMED   36410285
  REMARK    GeneRIF: Phenotypic expansion of EGP5-related Vici syndrome: 15
            Dutch patients carrying a founder variant.
REFERENCE   2  (bases 1 to 12688)
  AUTHORS   Schwertz,H., Rowley,J.W., Portier,I., Middleton,E.A., Tolley,N.D.,
            Campbell,R.A., Eustes,A.S., Chen,K. and Rondina,M.T.
  TITLE     Human platelets display dysregulated sepsis-associated autophagy,
            induced by altered LC3 protein-protein interaction of the
            Vici-protein EPG5
  JOURNAL   Autophagy 18 (7), 1534-1550 (2022)
   PUBMED   34689707
  REMARK    GeneRIF: Human platelets display dysregulated sepsis-associated
            autophagy, induced by altered LC3 protein-protein interaction of
            the Vici-protein EPG5.
REFERENCE   3  (bases 1 to 12688)
  AUTHORS   Rafei,M.A., Harikrishna,B., Al Thihli,K., Al-Mujaini,A.S. and
            Ganesh,A.
  TITLE     Ophthalmic findings as clues for early diagnosis of Vici syndrome
            in a neonate
  JOURNAL   Ophthalmic Genet 42 (6), 780-783 (2021)
   PUBMED   34264147
  REMARK    GeneRIF: Ophthalmic findings as clues for early diagnosis of Vici
            syndrome in a neonate.
REFERENCE   4  (bases 1 to 12688)
  AUTHORS   Nam,S.E., Cheung,Y.W.S., Nguyen,T.N., Gong,M., Chan,S., Lazarou,M.
            and Yip,C.K.
  TITLE     Insights on autophagosome-lysosome tethering from structural and
            biochemical characterization of human autophagy factor EPG5
  JOURNAL   Commun Biol 4 (1), 291 (2021)
   PUBMED   33674710
  REMARK    GeneRIF: Insights on autophagosome-lysosome tethering from
            structural and biochemical characterization of human autophagy
            factor EPG5.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 12688)
  AUTHORS   Ehmke,N., Parvaneh,N., Krawitz,P., Ashrafi,M.R., Karimi,P.,
            Mehdizadeh,M., Kruger,U., Hecht,J., Mundlos,S. and Robinson,P.N.
  TITLE     First description of a patient with Vici syndrome due to a mutation
            affecting the penultimate exon of EPG5 and review of the literature
  JOURNAL   Am J Med Genet A 164A (12), 3170-3175 (2014)
   PUBMED   25331754
  REMARK    GeneRIF: A mutation affecting the penultimate exon of EPG5 and
            presenting with typical clinical manifestations of Vici syndrome.
            Review article
REFERENCE   6  (bases 1 to 12688)
  AUTHORS   Cullup,T., Dionisi-Vici,C., Kho,A.L., Yau,S., Mohammed,S.,
            Gautel,M. and Jungbluth,H.
  TITLE     Clinical utility gene card for: Vici Syndrome
  JOURNAL   Eur J Hum Genet 22 (3) (2014)
   PUBMED   23838600
REFERENCE   7  (bases 1 to 12688)
  AUTHORS   Cullup,T., Kho,A.L., Dionisi-Vici,C., Brandmeier,B., Smith,F.,
            Urry,Z., Simpson,M.A., Yau,S., Bertini,E., McClelland,V.,
            Al-Owain,M., Koelker,S., Koerner,C., Hoffmann,G.F., Wijburg,F.A.,
            ten Hoedt,A.E., Rogers,R.C., Manchester,D., Miyata,R., Hayashi,M.,
            Said,E., Soler,D., Kroisel,P.M., Windpassinger,C., Filloux,F.M.,
            Al-Kaabi,S., Hertecant,J., Del Campo,M., Buk,S., Bodi,I.,
            Goebel,H.H., Sewry,C.A., Abbs,S., Mohammed,S., Josifova,D.,
            Gautel,M. and Jungbluth,H.
  TITLE     Recessive mutations in EPG5 cause Vici syndrome, a multisystem
            disorder with defective autophagy
  JOURNAL   Nat Genet 45 (1), 83-87 (2013)
   PUBMED   23222957
  REMARK    GeneRIF: Recessive mutations in EPG5 cause Vici syndrome, a
            multisystem disorder with defective autophagy.
REFERENCE   8  (bases 1 to 12688)
  AUTHORS   Tian,Y., Li,Z., Hu,W., Ren,H., Tian,E., Zhao,Y., Lu,Q., Huang,X.,
            Yang,P., Li,X., Wang,X., Kovacs,A.L., Yu,L. and Zhang,H.
  TITLE     C. elegans screen identifies autophagy genes specific to
            multicellular organisms
  JOURNAL   Cell 141 (6), 1042-1055 (2010)
   PUBMED   20550938
REFERENCE   9  (bases 1 to 12688)
  AUTHORS   Halama,N., Grauling-Halama,S.A., Beder,A. and Jager,D.
  TITLE     Comparative integromics on the breast cancer-associated gene
            KIAA1632: clues to a cancer antigen domain
  JOURNAL   Int J Oncol 31 (1), 205-210 (2007)
   PUBMED   17549423
  REMARK    GeneRIF: 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.
REFERENCE   10 (bases 1 to 12688)
  AUTHORS   Dafsari,H.S., Ebrahimi-Fakhari,D., Saffari,A., Deneubourg,C.,
            Fanto,M. and Jungbluth,H.
  TITLE     EPG5-Related Disorder
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   36228046
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB065073.1, AB046852.1,
            AC090355.9, AK023817.1, DB235183.1, BC003695.1, AC087685.9 and
            BM680107.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 3, 2018 this sequence version replaced NM_020964.2.
            
            Summary: This gene encodes a large coiled coil domain-containing
            protein that functions in autophagy during starvation conditions.
            Mutations in this gene cause Vici syndrome. [provided by RefSeq,
            Aug 2015].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            CCDS Note: The coding region has been updated to include additional
            exons at both the 5' and 3' ends, resulting in an extension of both
            the N- and C-termini. There are no full-length human transcripts
            representing this gene, but the update is supported by available
            overlapping partial transcripts, by conservation data, and by data
            included in PMID:17549423.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000282041.11/ ENSP00000282041.4
            RefSeq Select criteria    :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-55                DB065073.1         11-65
            56-633              AB046852.1         1-578
            634-634             AC090355.9         124039-124039       c
            635-4419            AB046852.1         580-4364
            4420-5220           AK023817.1         1109-1909
            5221-5634           DB235183.1         114-527
            5635-6470           AK023817.1         2324-3159
            6471-9668           BC003695.1         160-3357
            9669-12639          AC087685.9         36720-39690
            12640-12688         BM680107.1         18-66               c
FEATURES             Location/Qualifiers
     source          1..12688
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.3-q21.1"
     gene            1..12688
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /note="ectopic P-granules 5 autophagy tethering factor"
                     /db_xref="GeneID:57724"
                     /db_xref="HGNC:HGNC:29331"
                     /db_xref="MIM:615068"
     exon            1..153
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     CDS             91..7830
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ectopic P-granules autophagy protein 5 homolog"
                     /codon_start=1
                     /product="ectopic P granules protein 5 homolog isoform 1"
                     /protein_id="NP_066015.2"
                     /db_xref="CCDS:CCDS11926.2"
                     /db_xref="GeneID:57724"
                     /db_xref="HGNC:HGNC:29331"
                     /db_xref="MIM:615068"
                     /translation="MAEAVKPQRRAKAKASRTKTKEKKKYETPQREESSEVSLPKTSR
                     EQEIPSLACEFKGDHLKVVTDSQLQDDASGQNESEMFDVPLTSLTISNEESLTCNTEP
                     PKEGGEARPCVGDSAVTPKVHPGDNVGTKVETPKNFTEVEENMSVQGGLSESAPQSNF
                     SYTQPAMENIQVRETQNSKEDKQGLVCSSEVPQNVGLQSSCPAKHGFQTPRVKKLYPQ
                     LPAEIAGEAPALVAVKPLLRSERLYPELPSQLELVPFTKEQLKILEPGSWLENVESYL
                     EEFDSMAHQDRHEFYELLLNYSRCRKQLLLAEAELLTLTSDCQNAKSRLWQFKEEQMS
                     VQGICADQVKVFSYHRYQRVEMNENALVELKKLFDAKSEHLHQTLALHSYTSVLSRLQ
                     VESYIYALLSSSAVLRSSAIHQQGRASKQTESIPSDLCQLKECISVLFMFTRRVNEDT
                     QFHDDILLWLQKLVSVLQRVGCPGDHLFLLNHILRCPAGVSKWAVPFIQIKVLHNPSG
                     VFHFMQSLALLMSPVKNRAEFMCHMKPSERKPSSSGPGSGTWTLVDEGGEEDEDPETS
                     WILLNEDDLVTILAQFPFHELFQHLLGFKAKGDYLPETTRPQEMMKIFAFANSLVELL
                     AVGLETFNRARYRQFVKRIGYMIRMTLGYVSDHWAQYVSHNQGSGLAQQPYSMEKLQV
                     EFDELFLRAVLHVLKAKRLGIWLFMSEMPFGTLSVQMLWKLFYLMHQVESENLQQLSS
                     SLQPAQCKQQLQDPEHFTNFEKCLSSMNSSEEICLLTTFAQMAQARRTNVDEDFIKII
                     VLEIYEVSYVTLSTRETFSKVGRELLGTITAVHPEIISVLLDRVQETIDQVGMVSLYL
                     FKELPLYLWQPSASEIAVIRDWLLNYNLTVVKNKLACVILEGLNWGFAKQATLHLDQA
                     VHAEVALMVLEAYQKYLAQKPYAGILSESMKQVSYLASIVRYGETPETSFNQWAWNLI
                     LRLKLHKNDYGIQPNCPAVPFSVTVPDMTESPTFHPLLKAVKAGMPIGCYLALSMTAV
                     GHSIEKFCAEGIPLLGILVQSRHLRTVVHVLDKILPLFYPCQYYLLKNEQFLSHLLLF
                     LHLDSGVPQGVTQQVTHKVAQHLTGASHGDNVKLLNSMIQAHISVSTQPNEVGPVAVL
                     EFWVQALISQHLWYREQPILFLMDHLCKAAFQLMQEDCIQKLLYQQHKNALGYHCDRS
                     LLSSLVSWIVAGNITPSFVEGLATPTQVWFAWTVLNMESIFEEDSQLRRVIEGELVIN
                     SAFTPDQALKKAQTQLKLPIVPSLQRLLIYRWAHQALVTPSDHPLLPLIWQKFFLLYL
                     HRPGPQYGLPIDGCIGRRFFQSPAHINLLKEMKRRLTEVADFHHAASKALRVPAEGSE
                     GLPESHSGTPGYLTSPELHKELVRLFNVYILWLEDENFQKGDTYIPSLPKHYDIHRLA
                     KVMQNQQDLWMEYLNMERIYHEFQETVGLWTQAKLESHSTPCSLSVQLDFTDPLLAKE
                     RVLSNLRKHEAPQPPLALHPTKPPVPVISSAVLLSQKDATQLVCTDLNLLQQQARTAA
                     LRESQQVALDGELLDTMPKQYVNREEQTTLHLECRGSSGKKCQGAAVVTVQFEGMHKN
                     EAISQQLHVLRKEVKQLQAEAAKPPSLNIVEAAVHAENLITALVNAYKLQPTPGIQKV
                     GISLFFTIVDYVSDETQRHPPTRQFFTSCIEILGQVFISGIKSECRKVLETILKNSRL
                     CSLLSPFFTPNAAPAEFIQLYEQVVKFLSEDNSDMIFMLLTKFDLKQWLSATKPPLSD
                     RTRLLESIHLALTAWGLEPDEDILMPFNLFCKHWTYLLLYQFPDQYSDILRLLMQSSA
                     EQLLSPECWKATLRALGCCAPSCQQGAASTEGAVLPSSSDALLSDKQVMETIQWLSDF
                     FYKLRLSKMDFKSFGLFSKWSPYMADVKTFLGYLVKRLIDLEMTCLAQDPTASRKTVL
                     KSLHSVIIQLFKPWILVLEDNESSQQRHYPWLESDTVVASSIVQLFTDCIDSLHESFK
                     DKLLPGDAGALWLHLMHYCEACTAPKMPEFILYAFHSTYRKLPWKDLHPDQMLMEAFF
                     KVERGSPKSCFLFLGSVLCEVNWVSVLSDAWNSSPHPETRSMIVCLLFMMILLAKEVQ
                     LVDQTDSPLLSLLGQTSSLSWHLVDIVSYQSVLSYFSSHYPPSIILAKESYAELIMKL
                     LKVSAGLSIPTDSQKHLDAVPKCQAFTHQMVQFLSTLEQNGKITLAVLEQEMSKLLDD
                     IIVFNPPDMDSQTRHMALSSLFMEVLMMMNNATIPTAEFLRGSIRTWIGQKMHGLVVL
                     PLLTAACQSLASVRHMAETTEACITAYFKESPLNQNSGWGPILVSLQVPELTMEEFLQ
                     ECLTLGSYLTLYVYLLQCLNSEQTLRNEMKVLLILSKWLEQVYPSSVEEEAKLFLWWH
                     QVLQLSLIQTEQNDSVLTESVIRILLLVQSRQNLVAEERLSSGILGAIGFGRKSPLSN
                     RFRVVARSMAAFLSVQVPMEDQIRLRPGSELHLTPKAQQALNALESMASSKQYVEYQD
                     QILQATQFIRHPGHCLQDGKSFLALLVNCLYPEVHYLDHIR"
     exon            154..1098
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            1099..1342
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            1343..1479
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            1480..1587
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            1588..1661
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            1662..1767
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            1768..1882
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            1883..2033
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            2034..2189
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            2190..2347
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            2348..2502
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            2503..2643
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            2644..2808
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            2809..2928
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            2929..3188
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            3189..3329
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            3330..3474
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            3475..3672
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            3673..3783
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            3784..3906
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            3907..4073
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            4074..4295
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            4296..4419
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            4420..4564
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            4565..4736
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            4737..4899
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            4900..5042
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            5043..5199
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            5200..5394
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            5395..5608
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            5609..5757
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            5758..5959
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            5960..6032
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            6033..6139
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            6140..6315
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            6316..6501
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            6502..6711
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            6712..6856
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            6857..7099
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            7100..7316
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            7317..7532
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            7533..7647
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     exon            7648..12688
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      9626..9631
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /note="hexamer: AATAAA"
     polyA_site      9652
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /note="major polyA site"
     regulatory      9771..9776
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /note="hexamer: AATAAT"
     polyA_site      9794
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
     regulatory      12663..12668
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /note="hexamer: AATAAA"
     polyA_site      12688
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /note="major polyA site"
ORIGIN      
        1 atgtgacagt ccggaggcca gaaccgggca ggttgcttga agcgcagggg tttgacaaaa
       61 acaaacggtg acggcgccgc ggaagggtct atggccgagg cggtgaagcc ccagcgccgg
      121 gccaaggcca aggccagccg gactaaaaca aaggaaaaga agaagtatga aactcctcag
      181 agggaagagt ccagtgaagt ctcccttcca aaaacctcca gagagcagga aatcccttct
      241 ctagcctgtg aattcaaagg agaccatctg aaggtggtaa ctgattccca gctccaggat
      301 gatgccagtg gacaaaatga gagtgaaatg tttgatgtac cactcacctc cttaactata
      361 agcaatgaag agtccctgac gtgtaacaca gagcccccaa aggaaggggg agaggccaga
      421 ccctgtgtgg gggacagtgc agtcactcca aaggtccacc ctggagacaa tgttggaact
      481 aaagtagaaa cccccaagaa cttcacagag gtagaggaaa atatgtcggt acaaggtgga
      541 ctttcagaaa gtgcacccca atctaatttt tcttatactc agccagcaat ggaaaatata
      601 caagtcagag aaactcagaa tagtaaagaa gacaaacaag gcctggtttg ttcttcagag
      661 gtgccacaga atgttggctt gcagagttct tgcccagcca aacatggttt tcagacacct
      721 agagtgaaga aactgtatcc ccagttgcca gctgaaattg ctggagaagc accagctttg
      781 gtggcagtga aacccttgct tcgcagtgag cgactctacc cagaactccc gtctcaactg
      841 gaactagtac catttactaa agaacagcta aaaatcttgg agcctggttc atggctggaa
      901 aatgttgagt catatttaga agaatttgac agcatggctc atcaagacag gcatgaattt
      961 tatgagttgc ttttgaacta ctcacgatgt aggaagcaac tgctgctggc tgaagctgag
     1021 ctgcttactc tgacatctga ttgccaaaat gctaaaagtc ggctgtggca gtttaaggag
     1081 gaacaaatgt ctgtacaggg tatctgtgca gatcaagtga aagttttcag ctatcatcgc
     1141 taccaaagag tagaaatgaa tgaaaatgca ctggtggagc taaagaagct attcgatgcc
     1201 aaatctgagc acctccacca gaccctggcc cttcattctt atacttctgt gctctcaaga
     1261 ttgcaagtgg agtcttacat ctatgcattg ctcagtagtt cagctgttct gagatcttca
     1321 gcaattcacc agcaaggccg agcgtctaag cagacagaaa gcattccctc tgatctgtgt
     1381 caactaaagg aatgcattag tgtcttattc atgttcacca ggagagttaa tgaagatact
     1441 cagtttcatg atgatattct tctctggctg cagaaattgg tatccgtgct acaaagagtt
     1501 ggctgtcctg gagatcacct cttccttcta aaccatattc ttcgatgccc cgctggtgtt
     1561 agtaaatggg ctgttccttt tatccagatc aaagtgttgc ataacccatc aggggtcttt
     1621 cattttatgc aatcccttgc cctgctgatg tctcctgtca aaaatcgagc tgagtttatg
     1681 tgccacatga agcccagcga gcggaagcca tcctcctcag ggcctgggtc tgggacttgg
     1741 acgctagtag acgaaggagg agaagaggat gaagaccctg agaccagttg gattctcctt
     1801 aatgaagatg atttggttac cattttagca cagttcccct ttcatgaact ctttcagcat
     1861 cttcttgggt ttaaagcaaa aggtgattat ttacctgaaa caacaagacc tcaagagatg
     1921 atgaaaattt ttgcctttgc caactcacta gtggaacttc tggctgtggg gttagaaacc
     1981 tttaatagag cacgctatag gcagtttgtg aagcgaattg gttatatgat caggatgact
     2041 cttggttatg taagtgacca ttgggcacag tatgtgagcc ataaccaagg ctcaggattg
     2101 gcccaacagc cctactctat ggagaaacta caggttgaat ttgatgaact gtttttgagg
     2161 gctgtcctac atgtgctgaa ggccaaaaga cttggcattt ggctgtttat gtccgagatg
     2221 ccctttggga ctctgtctgt gcaaatgctg tggaagctct tctacctcat gcaccaggtg
     2281 gagagcgaga acctgcagca gctctcctcc tccctgcagc ccgcccagtg caagcagcag
     2341 ctccaagacc cagaacattt taccaacttt gagaagtgtc tttcttctat gaatagctca
     2401 gaagagattt gccttctgac tacctttgct cagatggctc aggccagaag aaccaatgtg
     2461 gacgaagact tcataaaaat tattgttctg gagatatatg aggtatctta tgtcaccttg
     2521 tctaccagag agactttttc aaaggttggt cgagagcttt tagggactat cacagctgtt
     2581 caccctgaga taatttccgt ccttctggat agagttcaag agaccattga ccaggttgga
     2641 atggtttctc tatacttgtt taaagaactg cctttgtatc tttggcaacc ttctgcatct
     2701 gagatagcgg tgattcggga ttggttattg aattacaacc tgacagtggt gaagaataaa
     2761 ctggcctgtg ttattcttga aggactgaat tggggatttg ctaaacaggc tacccttcat
     2821 ctggatcaag cagtccatgc tgaagtggct ttaatggttc ttgaagctta tcagaagtac
     2881 cttgcacaga agccatatgc tgggattctc tctgaaagta tgaagcaggt ttcatatttg
     2941 gccagtattg ttcgatatgg agagacaccc gagacctcat ttaaccaatg ggcctggaat
     3001 ttaatcttga ggctaaaact gcacaaaaac gattatggaa tacagccgaa ttgtccagct
     3061 gttcccttct ccgtcactgt gcctgacatg acagagtcac ccacgtttca tcctctcttg
     3121 aaggctgtga aagcgggcat gcccattggc tgttatctag ccttatctat gacagctgtg
     3181 ggccacagca ttgagaagtt ctgtgcagaa ggcatcccac tattgggaat tctggtccag
     3241 tcaagacatt tgagaacagt ggttcatgtc ctggataaga ttctgccttt attttaccct
     3301 tgccagtatt accttctgaa gaatgagcag tttttatcgc atctcctctt gttcctacac
     3361 ttggacagcg gtgtccctca gggtgtcaca caacaggtca cccacaaggt ggcacagcac
     3421 ctgacaggag ccagccatgg ggacaacgtg aagcttctca acagcatgat ccaggcacac
     3481 atatctgtaa gcactcagcc caatgaagtg ggccccgttg ctgtgttgga gttctgggtt
     3541 caggctctca taagccagca tctctggtac cgagaacaac ctatcctctt cctcatggac
     3601 cacttgtgta aagcagcttt tcagctgatg caggaagact gcatacagaa attactctac
     3661 caacaacata agaatgcctt gggttaccac tgtgaccgga gtctgctctc atctttggta
     3721 agctggattg tggcaggcaa catcactcct tcctttgtgg agggcttggc cacgcccact
     3781 caggtctggt ttgcctggac agtgctcaac atggaatcca tctttgaaga ggactcccag
     3841 ctccggagag ttattgaagg ggaattggtg ataaactctg ctttcacccc tgaccaagct
     3901 ctgaagaaag cccagaccca gctgaagctc cccatcgtgc catccctcca gaggctgctg
     3961 atttatcgct gggcccacca ggctctggtc acaccttctg atcaccccct cctgccactc
     4021 atttggcaga agttcttcct tctgtatctt caccgtccgg gaccacagta tgggttaccc
     4081 atagatggtt gtattggaag aaggtttttt caaagtcctg ctcatatcaa tttgttgaaa
     4141 gaaatgaaga gacgtttgac cgaggtggct gacttccacc atgctgcaag caaggccctc
     4201 cgtgttccag cagagggcag tgaagggctg ccagagagcc actctggcac ccctggttac
     4261 ctgacttcac cagaactgca caaggagctg gtgaggctct tcaatgtata tatattatgg
     4321 ctagaagatg agaattttca aaaaggagat acctatatcc cttctctacc aaagcattat
     4381 gatattcaca ggctagcaaa agtgatgcag aatcagcagg atctgtggat ggagtatttg
     4441 aacatggagc gcatctatca tgagtttcag gagactgttg gtctgtggac acaggccaag
     4501 cttgagtccc attccacacc ctgcagtttg tccgtgcagc tggacttcac tgatcctttg
     4561 ctggctaaag aaagggtttt aagtaacttg cggaagcatg aggctcccca gcctcccctt
     4621 gctctgcacc cgacgaagcc tcctgtgcca gttatttcct ctgctgtgct attgagtcag
     4681 aaggacgcca cccagctggt gtgcacagac ctgaatctgt tgcaacagca ggccagaacc
     4741 gcagctcttc gggaatctca gcaggttgct ctggatggtg agctgttaga cacaatgcca
     4801 aagcagtatg tgaatcgtga agaacagacc acactacatt tggagtgcag aggcagcagc
     4861 ggtaagaaat gccaaggagc cgcagttgtc acggttcagt ttgaaggcat gcataagaat
     4921 gaagccataa gccaacagct tcatgtttta cggaaggaag tgaagcagtt gcaagcagaa
     4981 gctgctaaac caccatcact taatattgtg gaagctgctg tacatgcaga aaacttgatc
     5041 acggccttag tgaatgccta caagttgcag cctacacctg ggattcagaa agttggcatt
     5101 agccttttct ttactattgt ggattacgtc agcgatgaga cgcagcgtca tcccccaaca
     5161 aggcagttct ttacttcatg tattgagatc ttgggacagg tatttatcag tggcattaaa
     5221 tcagagtgca gaaaagtact tgaaaccatt ctgaagaaca gcaggctctg ctccctgctg
     5281 tctcctttct tcactcccaa tgctgcacct gcagagttca tacagctgta tgagcaagtg
     5341 gtgaagtttc taagtgagga caacagtgat atgattttca tgctgctaac caagttcgat
     5401 cttaaacaat ggttaagcgc cactaaacct cctctgtctg atcgtaccag gcttctggag
     5461 tccattcact tggcacttac tgcctggggc cttgaaccag atgaggatat tttgatgcca
     5521 tttaatcttt tctgtaagca ctggacttat cttcttctct accagtttcc tgaccagtac
     5581 agtgacattc tcaggctgct tatgcaaagc tccgcggagc agcttctgag ccccgagtgt
     5641 tggaaggcca ctctgagagc cctgggctgc tgcgccccca gctgccagca gggggcagcg
     5701 tccaccgagg gcgccgtgct tcccagctct tctgatgctc tcttgtcaga caagcaggta
     5761 atggagacta tacagtggct ttcagacttt ttttataagc ttcggttatc caagatggac
     5821 tttaaaagct ttggtttatt ctcaaaatgg agtccttata tggctgatgt gaagacattc
     5881 ttgggctacc ttgtgaaaag gctgattgac ttagaaatga cctgtttggc ccaagaccca
     5941 actgccagca ggaaaacagt gctgaaatcc ctacattcag taatcattca gctctttaag
     6001 ccatggatcc tggttttaga ggacaacgaa agcagccaac agcggcatta cccctggcta
     6061 gagagtgata ctgtggtggc ctcaagcatt gtgcagctgt tcactgactg tattgactca
     6121 ctgcatgaga gttttaaaga taagctgttg ccaggtgatg caggagccct ttggttgcac
     6181 ctgatgcatt attgtgaagc atgtacagca cccaaaatgc cagagttcat tctgtacgct
     6241 ttccatagca cgtaccggaa actgccatgg aaggacctgc accctgacca gatgctcatg
     6301 gaggccttct tcaaagtgga acgaggaagc cccaagagct gtttcttatt tttggggtct
     6361 gtactctgtg aagtcaactg ggttagtgtg ctctctgatg cctggaattc cagtccccac
     6421 ccagaaaccc gcagcatgat tgtctgcctc cttttcatga tgattttatt ggcaaaggaa
     6481 gttcaactgg tagaccaaac agattcacct ttacttagtc tccttggaca gacaagctca
     6541 ctttcatggc atcttgtgga tattgtgtcg taccagagtg tgctaagtta tttcagcagc
     6601 cattacccgc cgtccatcat cctggcaaaa gaatcttatg ctgaattaat catgaagctc
     6661 ctaaaagtgt ctgcgggcct ttctattcct actgacagcc agaagcatct tgatgcagtt
     6721 ccaaaatgcc aagcttttac tcatcagatg gttcaattcc tcagcaccct ggaacaaaat
     6781 ggaaaaatca ccttagcagt cctagaacag gaaatgtcta agctcttaga cgatatcatt
     6841 gtctttaacc cgcccgacat ggacagccag acccgccaca tggccctcag cagcctcttt
     6901 atggaagtcc tgatgatgat gaacaacgcg actattccaa cagcagagtt ccttcggggc
     6961 agtatccgga cctggattgg ccaaaaaatg catgggctgg tggtgctgcc ccttttaaca
     7021 gcagcctgcc agagcctggc gtccgtccgc cacatggctg agactacaga agcctgcatc
     7081 actgcctact tcaaagaaag ccctctcaat cagaattcag gatggggacc cattctggta
     7141 tcccttcagg ttcccgagct caccatggaa gagttcctgc aggagtgcct caccttgggc
     7201 agttacttga ctctttacgt ctacttgctt cagtgtttaa acagcgaaca gactttaagg
     7261 aatgaaatga aagtgctgct catcttaagc aagtggctgg aacaggtgta cccaagctcc
     7321 gtggaggaag aggcaaagct gtttttgtgg tggcaccaag tccttcagct ctccctcatt
     7381 cagacagagc agaatgactc cgtcctgaca gaatctgtca ttcgaattct gctcttggtt
     7441 cagagcaggc agaacctcgt ggctgaggag agactcagct ctgggatcct gggggcaatt
     7501 gggtttggcc ggaagtcgcc tttgtctaac aggttccgag tggttgcccg aagcatggct
     7561 gccttccttt cagttcaggt tcctatggaa gatcagatcc gtttgaggcc tggctctgaa
     7621 ttacatctga cccccaaagc tcagcaggct ctgaatgctc ttgaatccat ggcatcaagt
     7681 aagcagtatg ttgaatacca ggatcaaata ttgcaagcca cccaatttat aaggcatcct
     7741 ggccattgcc ttcaagatgg gaaaagcttc ttggctcttc tcgttaactg tctgtatcca
     7801 gaagtgcatt atttggacca catacgatag ttaacactga ggctcttgaa aaacccattg
     7861 ctgtttatgt ttacatttaa ctttgctgtt gcacaagtaa ctttgctcaa ttgcactgta
     7921 gagctcagtt tggccaatgt gtagttgact gagatgcaag ttgggaggcg ttagatatta
     7981 gataattttg gggtgtgtgt gtgtgtgtgt gtgtgttttc ttagctctta agaccttctg
     8041 gggactcttt aagtttttat atttatccac aagagaaact tactaagttc cacttgggtg
     8101 cagagccact cacagttgcc gaatgtccca gtcatctcac aagacctcca gatggagttc
     8161 tttgtatgtt tccacttctg tctctgtttt atgtaaatgt tccagatctg acaaccttgg
     8221 aagtcactca gtacccttac ttttaaaccc catttgtgtt cctccaaagt aaagaagtca
     8281 attttgaaaa atttctgcat ttctcaaatg tggacaaata caatagtttt aaagtattgt
     8341 ttttctcaga agggagataa aaatgccgag ttagttaaag tgggtcatgt gtaaaatacg
     8401 accacttgat cgtgattata gtgggcagta gagatgatga caagtcaatt tccatccagc
     8461 cgtgtatcct catggagaag ctgcctgtct gaatcaggat ggcaagctgg cagtctggga
     8521 ggagcatgtt ttgcacagat gttttgtttg gtccacttgg tgaggagtgc agacagggct
     8581 gcctctctct agtcgggaga gtctgtgcat tccctcgggc cctgacccta gcctcattca
     8641 catcacttgc ccctgtcgac acctaagttt gcaccctttg atagacacca tgttcgatat
     8701 ctgaaaggct cagtgtcagg agacagagac tgagggagac tgaagacctg attctctgtt
     8761 ccctgcttgt tttttaactt caaactcaga tgaagccaat ggacctgctg aaacacttgt
     8821 ctgtggaaac tgggtcaggt cgggagatct actgaaattt ggcttttttt ccatagccac
     8881 gtgccttctg ttgttgacag ttcattcatt accaaagcct gtgtgtaact ttgccttgtt
     8941 ctgtggccat cttcttgctc atgttatttc tcctgggaat gagcagtttg acttctgttc
     9001 ccacgttcct cattctatca gctctagatg gattttgcct gcatagctgg cttaatatgt
     9061 ctttgtgtat gggtagtctg tagcctgaga atatttacct aaaaatgtct aaacagccac
     9121 caagaatgtt tataggggta taggaatata gttaacagag tgctaatctc tcctcaaatg
     9181 tccttttgga atgcttcccc caaaattggg aagttggtag gagcttttct ttactttgaa
     9241 tttctttact tggacagaac gattctgcct taaagacacg ctttgcagct ctgataaaga
     9301 acatccctgt ttagtctctt gagttttaca ggccacaaaa tgtccgtctc agagggatct
     9361 gtctcagctt ttcttatttt tgcttctctc cgttttcaaa attaatcatc ttgttctctg
     9421 tataagaaaa tttgagaagc tgtggacaat ttaatagtct gatctggcaa cagcgatttt
     9481 tgtttggaaa tattttgtgt tttctttgag gaggatataa ttactgatat cctaggatgt
     9541 gaaatttttg agtgacagta tgcacatttt aaagaaaatt atgattaatc tgtataatgt
     9601 tttttggtct gtaaaaatta taaaaaataa aatcatttat ctttggttgt aactgtttaa
     9661 aaaccaaatt atagggatat cacactatct tgtaaagtgt ttcagctgtt aaagttgctg
     9721 taggttttta tgcctgatgt catttaattt atttgacatt gaacttcatt aataatcaga
     9781 gatggtcagt gaaagcgctt cctctttaac tctttcttgc ttaaccttgg aaggttgact
     9841 caactcctag gtgtctatgg gaaactctgg gctaggaacg tgctataaag acactgagct
     9901 agttcagaca tggccatgct gctgtagcct cctgggaaag aagggcggca gagagaccag
     9961 cccgcctgtt ggcttgcagg ggtaatgagc cttggcttga aaaaattgtt ggcctccaga
    10021 gagcacgggg ctgtggtttc agaatcagtg atgggtgccg cacatcaaga cgggaatcaa
    10081 gcaagaccaa ggccctgtgg actgagcagc gtggagggcg aacggctgca ggctccagac
    10141 ttcaccacag ggtggccaac agtggcatcg ggaccaaata aagatgtcta acagcttcct
    10201 gggagcagga ggaggcagga ttctggttgc catgaaaaac atctctctcc ctctccatca
    10261 ctccccatgc tgcagtgcac aggtgggttg cagaggcagg ctgcatcccg gaatcatgtt
    10321 gtcccactgc ctattaatag aacaagtgaa gggcagaatg ctggaacaca ccagacatag
    10381 agggagggag gtcctgccag atgtgtctac acaactgtct acatagcatg acagtagcag
    10441 tggattcggg acccacctgt acatgtttcc aaagctcctt cctgcacact cgggacctca
    10501 gctccaaggc gtgactcatt tctcagtctc accatccttt gttggctcag acatcgcatg
    10561 cctctgcccc actggggttg tgtgcctgcg tctctcactt ctttgaggtt ggggaaagcc
    10621 tagtccagaa aatgaaaacc catagaccag cctaacttcc tttcaaccaa gtgacggcct
    10681 cctggttcct ctcagttcat catcaaaatc agtgtgtaca tgtcatacaa gccaagagtg
    10741 ttcatgtcct cgttcctttc aaatgaaggt gatatatact ttttcactga gtttttattc
    10801 ctgaaattct ttcttctgga gcaggaagca aatgtcctgg aatcgtagac ttttacagtc
    10861 agaagggtca ttcacgttca tctagtgccc ctctcactct gcagggatcc tcctgcctct
    10921 cctctgcccc tgtccagtgc ctggtggtcc agcctgtgat gggcaggcct aggctgccat
    10981 ccgcaggctc tgtagttctg ctttctattg aaccaagatg tttctacgtt gcctattggt
    11041 cgtggttctg tccagagcag ttcaggctgg ggctgttcac ttgcccctcc ttgaggcaga
    11101 cctttagata ttttcagttt tcatcacatg tctaacacca cttccacccc acccctcacc
    11161 tcttaggcta aatccaagct aaatccccca atgtcttttt tttttttttt tttttgagac
    11221 gagtctcatc tgtcacccag gctggagtgc aatggcatgg tctcggctca ctgcaacctc
    11281 cgcctcctgg gttcaagcta ttctgcctca gcctcccaag gagccaggac tacaggtgca
    11341 tgccaccacg cccggctaat ttttgtattt tttagtagag acagggtttc acccagccat
    11401 tgagacaagc tggtttcaaa ctcctgacct tgtggtccgc ccgccccggc ctcccagagt
    11461 gctgggatta caggcgtgag ccaccgcgcc catctcccct gcaatgtctt tagttagacc
    11521 ttttccacca tcatgtctaa ctgggctacg gtttggggaa agtgtccaaa ttagtccgtg
    11581 ttatcctaaa aggggtgtgc cccggattag cagggccagg gctagggtga gacaaatgag
    11641 gcacctgggg catacattta agttggtgct tgcttgcagg tgccaagaga gtgcttcctt
    11701 gggtttaccc ccgtggtgcc tcctttacct cattctggcc ccagccctgg ggttagagtc
    11761 gcaccagtgt ggtccaagtg gcataattat ctccctaaat gcttgggcag catcagcttt
    11821 cagtagctgt gccccatggg aggcacatta agctagtggc aagttgagac tgcagacctc
    11881 agcttaatat cagttgttgc ccaagacaga tctcacccca catcttcatg acaggcctaa
    11941 caacaaggca ctttgccctt aatcctctac tactgcctgc tcttcatttt gggccaactg
    12001 tacagctcat tttgagatag tagctgatca tttttctgat cagttaactt tgtcttatta
    12061 agcaaaatgg agaatataat gttgggaaat aagtgtgttg attaaaagaa agtatcccct
    12121 tctaccatct tccatttgtg tctgggttgt gctgggtaaa gttctagact tactaacgca
    12181 gacttcattt tggtccggtt tccacagcat gcctcgggca tcagtgtcca ggagtagctg
    12241 tatttgaggt ttccttcact ctggtaggtt cctgattcct gatgaaaata acttgaaaaa
    12301 aaaataatta tactactgat cctcttttgg gataatgaaa ttgcgaagga atgttgttga
    12361 ttataacttt tattttttaa tgtacagatg tactgtctct cattgagcac tgatagaatt
    12421 tatttttctt tcaatagttt aaaatcactt atgtggagac acatacttaa gtgtgttcaa
    12481 ctcgttttct tcccacatat ctagtgtgac ctttaaaaac cacaacttta ttttggacat
    12541 taaatgtgca atattcacta cttattcatt gttccacatt tttcatactt gtacaaaggg
    12601 taagttttta tataatggtg agaaacagga agaaatgaca actggttaag taaaattctg
    12661 caaataaact agattcgaat ttaattta
//
