LOCUS       NM_052958               2452 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens chromosome 8 open reading frame 34 (C8orf34),
            transcript variant 1, mRNA.
ACCESSION   NM_052958
VERSION     NM_052958.4
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 2452)
  AUTHORS   Stransky,N., Cerami,E., Schalm,S., Kim,J.L. and Lengauer,C.
  TITLE     The landscape of kinase fusions in cancer
  JOURNAL   Nat Commun 5, 4846 (2014)
   PUBMED   25204415
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2452)
  AUTHORS   Han,J.Y., Shin,E.S., Lee,Y.S., Ghang,H.Y., Kim,S.Y., Hwang,J.A.,
            Kim,J.Y. and Lee,J.S.
  TITLE     A genome-wide association study for irinotecan-related severe
            toxicities in patients with advanced non-small-cell lung cancer
  JOURNAL   Pharmacogenomics J 13 (5), 417-422 (2013)
   PUBMED   22664479
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC041961.1, AC083967.5 and
            BM684412.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_052958.3.
            
            Summary: This gene encodes a protein that is related to the cyclic
            AMP dependent protein kinase regulators. Naturally occurring
            mutations in this gene are associated with an increased risk for
            severe toxicities, such as diarrhea and neutropenia, in patients
            undergoing chemotherapeutic treatment. [provided by RefSeq, Mar
            2017].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.240146.1,
                                           SRR1803612.145720.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000518698.6/ ENSP00000427820.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1591              BC041961.1         234-1824
            1592-1603           AC083967.5         102084-102095       c
            1604-1856           BC041961.1         1836-2088
            1857-2452           BM684412.1         17-612              c
FEATURES             Location/Qualifiers
     source          1..2452
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q13.2"
     gene            1..2452
                     /gene="C8orf34"
                     /gene_synonym="VEST-1; VEST1"
                     /note="chromosome 8 open reading frame 34"
                     /db_xref="GeneID:116328"
                     /db_xref="HGNC:HGNC:30905"
     exon            1..385
                     /gene="C8orf34"
                     /gene_synonym="VEST-1; VEST1"
                     /inference="alignment:Splign:2.1.0"
     CDS             59..1675
                     /gene="C8orf34"
                     /gene_synonym="VEST-1; VEST1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     vestibule-1 protein; protein VEST-1; uncharacterized
                     protein C8orf34"
                     /codon_start=1
                     /product="uncharacterized protein C8orf34 isoform 1"
                     /protein_id="NP_443190.2"
                     /db_xref="CCDS:CCDS6203.2"
                     /db_xref="GeneID:116328"
                     /db_xref="HGNC:HGNC:30905"
                     /translation="MSSPLASELSELAALRPGFRLSAPHARVAPRAATHARGRGRASH
                     AGQPRLRSSCPGPSPGKRRVVPSGGAQPRVLPALSSRSHLFPMASHPQTRIQAYLEKN
                     KIGPLFEELMTKLITETPDQPIPFLIDHLQSKQGNRGQLQRTLSGSAALWAESEKSES
                     KGTRRDFRSYDKPWQLNAKKPKKSKSDLAVSNISPPSPDSKSLPRSVEHPKWNWRTKP
                     QSRDFDELNHILQESKKLGKALENLSRSIAISDELDKETVTFNSSLLRPRVIGEWIGR
                     EENDADPLAAEMLQPPIPRSKNDQWESEDSGSSPAGSLKMEPKNKGLKQQQQQHKKLL
                     AAMLSQDSFESIHSPTPSVTEEDIDNEDDAMELLEDLNDLRMEGVTTLVPSGSKFNQG
                     RPTYPAEPQAKVTLNICSRCARLQGDNLEERTEESLPILHSPDEKIPDSFDSLPGTEE
                     ALMEEGDEFEKASKLTGPGEASSGVGHSLKNYMEEDESLKQLQVVHQPWILPSDTESE
                     GVEAEQEKRSADLLLCVPCSSCPTLVYSGL"
     exon            386..533
                     /gene="C8orf34"
                     /gene_synonym="VEST-1; VEST1"
                     /inference="alignment:Splign:2.1.0"
     exon            534..665
                     /gene="C8orf34"
                     /gene_synonym="VEST-1; VEST1"
                     /inference="alignment:Splign:2.1.0"
     exon            666..794
                     /gene="C8orf34"
                     /gene_synonym="VEST-1; VEST1"
                     /inference="alignment:Splign:2.1.0"
     exon            795..823
                     /gene="C8orf34"
                     /gene_synonym="VEST-1; VEST1"
                     /inference="alignment:Splign:2.1.0"
     exon            824..996
                     /gene="C8orf34"
                     /gene_synonym="VEST-1; VEST1"
                     /inference="alignment:Splign:2.1.0"
     exon            997..1163
                     /gene="C8orf34"
                     /gene_synonym="VEST-1; VEST1"
                     /inference="alignment:Splign:2.1.0"
     exon            1164..1299
                     /gene="C8orf34"
                     /gene_synonym="VEST-1; VEST1"
                     /inference="alignment:Splign:2.1.0"
     exon            1300..1385
                     /gene="C8orf34"
                     /gene_synonym="VEST-1; VEST1"
                     /inference="alignment:Splign:2.1.0"
     exon            1386..1462
                     /gene="C8orf34"
                     /gene_synonym="VEST-1; VEST1"
                     /inference="alignment:Splign:2.1.0"
     exon            1463..1513
                     /gene="C8orf34"
                     /gene_synonym="VEST-1; VEST1"
                     /inference="alignment:Splign:2.1.0"
     exon            1514..1607
                     /gene="C8orf34"
                     /gene_synonym="VEST-1; VEST1"
                     /inference="alignment:Splign:2.1.0"
     exon            1608..1667
                     /gene="C8orf34"
                     /gene_synonym="VEST-1; VEST1"
                     /inference="alignment:Splign:2.1.0"
     exon            1668..2452
                     /gene="C8orf34"
                     /gene_synonym="VEST-1; VEST1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1966..1971
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C8orf34"
                     /gene_synonym="VEST-1; VEST1"
                     /note="hexamer: ATTAAA"
     polyA_site      1990
                     /gene="C8orf34"
                     /gene_synonym="VEST-1; VEST1"
                     /note="major polyA site"
     regulatory      2430..2435
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C8orf34"
                     /gene_synonym="VEST-1; VEST1"
                     /note="hexamer: AGTAAA"
     polyA_site      2452
                     /gene="C8orf34"
                     /gene_synonym="VEST-1; VEST1"
                     /note="major polyA site"
ORIGIN      
        1 actgcgccgg gcgctgcgga gagcggcgag ggtgggcgcg aggcggagaa cgcgatgaat
       61 gagttctccc ctcgcctcgg agttgtctga gttggcggcg ctgcgcccag gcttccggct
      121 ctcagcgccc cacgcgcgcg tggctccccg ggctgccacc cacgcccgcg gccggggccg
      181 agccagccac gcagggcagc cgaggctccg gagctcctgt cccggcccca gtccgggtaa
      241 aaggagggtt gtccccagcg gaggcgcaca gccgcgcgtt ctccctgcac tctcttcgcg
      301 gtcccatctg ttccccatgg cgtctcatcc gcaaacccgg atccaggctt acctggagaa
      361 gaacaagatc ggtcccctgt ttgaggaatt aatgaccaag ttaataactg agacacctga
      421 ccagccaatc ccatttctca ttgaccatct tcagtctaaa caagggaacc gtggacaact
      481 tcaaagaact ttgtctggat ctgcagctct atgggcagaa agtgaaaaat cagaatccaa
      541 aggaacaaga agggatttca gaagctatga taaaccttgg caattaaatg caaagaagcc
      601 taaaaaatca aaaagtgacc ttgctgtgtc taatatttct ccaccatcac cggactccaa
      661 atcattgcca aggtcagtag agcatccaaa gtggaactgg aggactaaac cacaaagccg
      721 tgattttgat gaattgaatc acatccttca ggagagcaag aagctgggga aagcccttga
      781 gaatctctct cgaagtattg caatttcaga tgaactcgat aaggaaacag tgacatttaa
      841 ttcttctctt ctgaggcccc gtgtgattgg agaatggatt ggtagagaag aaaatgatgc
      901 tgatccccta gctgctgaaa tgctacagcc tccaattcca agaagcaaaa atgaccaatg
      961 ggaaagtgaa gatagtggct ctagtcctgc aggaagctta aagatggagc ctaagaacaa
     1021 aggattaaaa cagcagcaac agcaacataa gaaactcctg gccgcaatgc tctctcaaga
     1081 ttcttttgag tccatccaca gccctacccc atctgtaaca gaagaagata ttgataatga
     1141 agatgatgca atggaattgc tggaggatct taatgattta agaatggagg gagtaacaac
     1201 cctggtacct tctgggagca aatttaacca aggccgtcct acttaccctg ctgagcctca
     1261 ggccaaggtc acactgaaca tctgttcaag gtgtgccagg cttcaaggag acaacctgga
     1321 agaaaggaca gaagagtcac taccaatact ccattctcca gatgaaaaaa tcccagattc
     1381 attcgattcc ttgcctggga ctgaagaagc actaatggag gagggtgacg aatttgagaa
     1441 agcatctaaa ctaacaggac ctggagaagc ctccagtgga gtaggacact cactgaaaaa
     1501 ctacatggaa gaagatgaat ccttaaagca attgcaggta gttcatcaac catggatctt
     1561 gccaagtgac acagaaagtg aaggagtgga agcagaacaa gagaaacgtt ccgctgatct
     1621 tcttctttgc gttccatgct cttcttgtcc tacgctggtc tactctggtt tgtgaaacag
     1681 agagaagaag ttgcaagtgg tccttaaaga aatgcagtta ttcaaatcct tatgtatagt
     1741 tctaatttta tttactatgt gtaatcattt agagaatggt tatttttata atctcaataa
     1801 taaacaagta ctatcgtagc cagggggtgc ccaagtatgt aatcagagaa cactaatcct
     1861 ggcaaaggat tgtggggtgg tcaggaggcc ggctgccttt tgacatggtt agagtcctgg
     1921 gtttagatta ctttataaat agttattaag attaatattt gatatattaa atattgcctg
     1981 attcaaataa ctttgcttaa aatttttctg tattttaact tgtctagggt tttctacttc
     2041 ttctattttt ataatatttt ctcatttttt agattactaa acattctact tatccacatg
     2101 tgccaagatg tgccatttag gtctctgcag aaattagctg tttggtatca tcacctgcca
     2161 tacatgttgt gtgcagcagt gagaagtata ttctctacca ctgctctttc tcatgattat
     2221 tttctctatt cctattaaaa tgaataattg atatgttaat taagtaaagc aaatcaataa
     2281 ggaatgaaat gcatggccca aaacatagaa aatgaaaatc gtttgaccat ttatccaatt
     2341 attgaaccca attaagatga tccattttaa atttaatata tgctcgcttt tggaatgtgt
     2401 tatgcattga tgttaagtga atggatctaa gtaaatctat tgatatctct ac
//
