LOCUS       NM_001278495            3293 bp    mRNA    linear   PRI 11-JUN-2024
DEFINITION  Homo sapiens NUT family member 2B (NUTM2B), mRNA.
ACCESSION   NM_001278495
VERSION     NM_001278495.2
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 3293)
  AUTHORS   Kao,Y.C., Sung,Y.S., Zhang,L., Huang,S.C., Argani,P., Chung,C.T.,
            Graf,N.S., Wright,D.C., Kellie,S.J., Agaram,N.P., Ludwig,K.,
            Zin,A., Alaggio,R. and Antonescu,C.R.
  TITLE     Recurrent BCOR Internal Tandem Duplication and YWHAE-NUTM2B Fusions
            in Soft Tissue Undifferentiated Round Cell Sarcoma of Infancy:
            Overlapping Genetic Features With Clear Cell Sarcoma of Kidney
  JOURNAL   Am J Surg Pathol 40 (8), 1009-1020 (2016)
   PUBMED   26945340
  REMARK    GeneRIF: we report recurrent BCOR exon 16 internal tandem
            duplications and YWHAE-NUTM2B fusions in half of infantile soft
            tissue undifferentiated round cell sarcoma and most primitive
            myxoid mesenchymal tumor of infancy cases, but not in other
            pediatric sarcomas.
REFERENCE   2  (bases 1 to 3293)
  AUTHORS   Gooskens,S.L., Kenny,C., Lazaro,A., O'Meara,E., van Tinteren,H.,
            Spreafico,F., Vujanic,G., Leuschner,I., Coulomb-L'Hermine,A.,
            Perotti,D., de Camargo,B., Bergeron,C., Acha Garcia,T., Tanaka,M.,
            Pieters,R., Pritchard-Jones,K., Graf,N., van den
            Heuvel-Eibrink,M.M. and O'Sullivan,M.J.
  TITLE     The clinical phenotype of YWHAE-NUTM2B/E positive pediatric clear
            cell sarcoma of the kidney
  JOURNAL   Genes Chromosomes Cancer 55 (2), 143-147 (2016)
   PUBMED   26542179
  REMARK    GeneRIF: Studies show that patients with clear cell sarcoma of the
            kidney (CCSK) and the fusion YWHAE-NUTM2B/E were relatively young,
            had low tumor volumes, and did not present with stage I disease
            which fail to identify an explicit clinical phenotype.
REFERENCE   3  (bases 1 to 3293)
  AUTHORS   Lee,C.H., Marino-Enriquez,A., Ou,W., Zhu,M., Ali,R.H., Chiang,S.,
            Amant,F., Gilks,C.B., van de Rijn,M., Oliva,E., Debiec-Rychter,M.,
            Dal Cin,P., Fletcher,J.A. and Nucci,M.R.
  TITLE     The clinicopathologic features of YWHAE-FAM22 endometrial stromal
            sarcomas: a histologically high-grade and clinically aggressive
            tumor
  JOURNAL   Am J Surg Pathol 36 (5), 641-653 (2012)
   PUBMED   22456610
  REMARK    GeneRIF: Tumors with YWHAE-FAM22 rearrangements constitute a
            distinct group of endometrial stromal sarcoma (ESS), which is
            associated with high-grade morphology and aggressive clinical
            behavior compared to JAZF1 ESS.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL132656.15 and HY013942.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001278495.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The exon combination of this
            RefSeq is inferred based on partial gene-specific transcript data,
            and on paralogous transcript alignments.
            
            CCDS Note: The exon combination of this CCDS representation is
            inferred due to a lack of full-length transcript support for this
            gene. It is supported by the partial gene-specific EST, HY013942.1,
            and by full-length transcript alignments from the paralogous NUTM2A
            gene.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.279906.1,
                                           SRR14038194.267722.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000429828.7/ ENSP00000394623.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-613               AL132656.15        54895-55507
            614-1134            HY013942.1         2-522
            1135-1465           AL132656.15        58079-58409
            1466-1594           AL132656.15        60367-60495
            1595-1734           AL132656.15        61468-61607
            1735-2117           AL132656.15        62050-62432
            2118-2234           AL132656.15        62918-63034
            2235-3293           AL132656.15        63368-64426
FEATURES             Location/Qualifiers
     source          1..3293
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.3"
     gene            1..3293
                     /gene="NUTM2B"
                     /gene_synonym="bA119F19.1; FAM22B"
                     /note="NUT family member 2B"
                     /db_xref="GeneID:729262"
                     /db_xref="HGNC:HGNC:23445"
     exon            1..765
                     /gene="NUTM2B"
                     /gene_synonym="bA119F19.1; FAM22B"
                     /inference="alignment:Splign:2.1.0"
     CDS             384..3020
                     /gene="NUTM2B"
                     /gene_synonym="bA119F19.1; FAM22B"
                     /note="family with sequence similarity 22, member B;
                     protein FAM22B"
                     /codon_start=1
                     /product="NUT family member 2B"
                     /protein_id="NP_001265424.1"
                     /db_xref="CCDS:CCDS60574.1"
                     /db_xref="GeneID:729262"
                     /db_xref="HGNC:HGNC:23445"
                     /translation="MEVKGPSGRSFCCESEGQFKSCLKRHTPSLLLPSSWKGNSGSCL
                     MAEALHRTSPTPNSCPLPLPLCRMSGVLCSRNLFTFKFSLFQLDSGASGEPGHSLGLT
                     LGFSYCGNCQTAVVSAQPEGMASNGAYPVLGPGVTANPGTSLSVFTALPFTTPAPGPA
                     HGPLLVTAGAPPGGPLVLSTFPSTPLVTEQDGCGPSGAGASNVFVQMRTEVGPVKAAQ
                     AQTLVLTQAPLVWQAPGALCGGVVCPPPLLLAAAPVVPVMAAQVVGGTQACEGGWSQG
                     LPLPPPPPPAAQLPPIVSQGNAGPWPQGAHGESSLASSQAKAPPDDSCNPRSVYENFR
                     LWQHYKPLARRHLPQSPDTEALSCFLIPVLRSLARRKPTMTLEEGLWRAMREWQHTSN
                     FDRMIFYEMAEKFLEFEAEEEMQIQKSQWMKGPQCLPPPATPRLEPRGPPAPEVVKQP
                     VYLPSKAGPKAPTACLPPPRPQRPVTKARRPPPRPHRRAETKARLPPPRPQRPAETKV
                     PEEIPPEVVQEYVDIMEELLGPSLGATGEPEKQREEGKVKQPQEEDWTPPDPGLLSYI
                     DKLCSQKDFVTKVEAVIHPQFLEELLSPDPQMDFLALSQDLEQEEGLTLAQLVEKRLP
                     PLKEKQHARAAPSRGTARLDSSSSKFAAGQGAERDVPDPQQGVGMETCPPQMTARDSQ
                     GRGRAHTGMARSEDSVVLLGCQDSPGLRAAWPTSPPQDHRPTCPGVGTKDALDLPGGS
                     PVRESHGLAQGSSEEEELPSLAFLLGSQHKLLPWWLPQSPVPASGLLSPEKWGPQGTH
                     QSPSAERRGLNLAPSPANKAKKRPLFGSLSPAEKTPYPGPGLRVSGEQSLTWGLGGPS
                     QSQKRKGDPLVSRKEKKQHCSQ"
     exon            766..1465
                     /gene="NUTM2B"
                     /gene_synonym="bA119F19.1; FAM22B"
                     /inference="alignment:Splign:2.1.0"
     exon            1466..1594
                     /gene="NUTM2B"
                     /gene_synonym="bA119F19.1; FAM22B"
                     /inference="alignment:Splign:2.1.0"
     exon            1595..1734
                     /gene="NUTM2B"
                     /gene_synonym="bA119F19.1; FAM22B"
                     /inference="alignment:Splign:2.1.0"
     exon            1735..2117
                     /gene="NUTM2B"
                     /gene_synonym="bA119F19.1; FAM22B"
                     /inference="alignment:Splign:2.1.0"
     exon            2118..2234
                     /gene="NUTM2B"
                     /gene_synonym="bA119F19.1; FAM22B"
                     /inference="alignment:Splign:2.1.0"
     exon            2235..3293
                     /gene="NUTM2B"
                     /gene_synonym="bA119F19.1; FAM22B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3267..3272
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NUTM2B"
                     /gene_synonym="bA119F19.1; FAM22B"
                     /note="hexamer: AATAAA"
     polyA_site      3293
                     /gene="NUTM2B"
                     /gene_synonym="bA119F19.1; FAM22B"
                     /note="major polyA site"
ORIGIN      
        1 ggatttctgg tctcggtgct gtaggtcaca tagccactct ttcctggatt gaggctttcc
       61 agcaaagggg ctgggacgta aggctggcct gctggtgtgg acagagattc cagcaacatg
      121 catgacctgg gggtacaagg attgcttcct aaacaatgat aagcacacag ccacctaata
      181 gtctggatcg gctgagacca tcctgatttc aaacacccag tccccttgcc ttcctaagaa
      241 cccctgtgtt tctcagactg aaaatgtgtt ttgaactttg ttcacgaagt gaggccgctg
      301 ttgaaattcg tcaagactgg gaaagagcca aagtgggaag gagcatgggt tgattggcac
      361 aaaagtaggt ctgctgataa agaatggaag taaaggggcc atcaggtaga agcttttgct
      421 gtgagtcaga aggacaattt aaaagttgcc taaagaggca cacgccatct ctgctgctgc
      481 cttccagttg gaagggaaac tcaggttctt gcctaatggc cgaagccctt cacagaacgt
      541 cccccacccc taacagctgc ccactgcccc tccccctctg cagaatgtct ggggtcctat
      601 gttccaggaa cctgtttact ttcaaatttt ccctgtttca gttggactca ggagcatctg
      661 gtgagccagg tcactctctg ggtcttaccc ttggcttttc ttattgcgga aactgccaga
      721 cggcggtggt cagtgcccag cctgagggga tggcttcgaa tggagcatac ccagtgctgg
      781 gaccgggcgt gaccgcgaac cctggcacct ccctgtctgt gttcacggct ctgcccttca
      841 ccacacccgc tcccggccca gcacacgggc cgctccttgt gactgcaggg gctcctccag
      901 gcggccctct ggtgctgtct accttcccca gcacacctct ggtgacagaa caggatggct
      961 gcggcccgag tggggccggg gcttccaacg tctttgtcca gatgaggaca gaggtggggc
     1021 ctgtgaaggc cgctcaggcg cagaccttgg tcctaactca ggcccccctc gtctggcagg
     1081 ctccaggcgc cctctgcgga ggtgttgtgt gtccacctcc cctactcctg gcagctgctc
     1141 ctgtggtgcc tgttatggct gcccaggtgg ttgggggcac ccaggcctgt gagggaggct
     1201 ggtcccaggg ccttcctctt ccaccaccac caccaccggc tgcccagctg ccccccattg
     1261 tgtcccaagg gaatgctggg ccatggccac aaggggctca tggagagagc agcctggctt
     1321 cctcccaggc caaggccccg ccagatgact cctgtaaccc caggagtgtc tatgagaact
     1381 tccgactctg gcagcactac aagcccctgg cccggaggca ccttccccag agtcctgaca
     1441 ccgaagcgct ttcgtgcttc ctcatcccag ttctccgatc gctggcccgg cggaagccca
     1501 ccatgaccct ggaggaggga ctgtggcggg ccatgcggga atggcagcac acgagcaact
     1561 ttgaccggat gatcttctac gagatggcgg aaaagttcct ggagtttgag gctgaggagg
     1621 agatgcagat tcagaaatcg caatggatga aggggcccca gtgcctgcct cctccagcca
     1681 caccgaggct tgaacctcga ggacccccgg cccctgaggt ggtcaagcag ccagtgtacc
     1741 ttcccagcaa ggccggcccc aaggccccga ctgcctgcct gccaccaccc aggccccaga
     1801 ggccagtgac caaggcccgc cggccaccac cccggcccca ccggcgagca gagaccaagg
     1861 cccgcctgcc accacccagg ccccagagac cagcagagac caaggtccct gaggagatcc
     1921 ccccagaagt ggtgcaggag tatgtggaca tcatggagga gctgctgggg ccttccctcg
     1981 gggccacggg ggagcccgag aaacaacggg aagagggcaa agtgaagcag ccacaggaag
     2041 aggactggac gcccccagac ccgggcctcc tgagctacat tgacaagctg tgttcccaga
     2101 aagacttcgt caccaaggtg gaggccgtca ttcatcccca attcctggaa gaattgcttt
     2161 ccccagatcc acagatggat ttcttggccc taagccagga cctggagcag gaggaaggac
     2221 tcacccttgc ccagctagtg gagaagcgcc tcccaccctt gaaggagaaa cagcatgcga
     2281 gggcagcccc tagtcgtggc acagcccggt tggactcaag ttcttctaag tttgcagctg
     2341 gccaaggagc agagagagac gtccctgacc cccaacaagg ggttggcatg gaaacctgcc
     2401 caccccagat gactgcccgg gactctcagg gacgaggcag agcacacact ggcatggcca
     2461 ggtccgaaga ctctgttgtg cttttgggat gtcaggattc ccctgggctg agggctgcct
     2521 ggccaacctc tcctccccag gaccacagac ccacctgccc tggcgtgggt accaaggatg
     2581 ccttggatct ccctggaggg tctcctgtca gggagtcaca tgggctggct caggggtcaa
     2641 gtgaggagga ggaactcccc agcctggcct tcctcttggg ttcccagcac aagcttctgc
     2701 cctggtggct accccagagc cctgtccctg cctcgggcct tctcagccca gaaaagtggg
     2761 gaccccaggg aactcatcag tccccatctg ctgagagaag aggcctcaac ctagcacctt
     2821 ctcctgccaa caaggccaag aagcgacctc tctttggaag cctgtcccct gctgaaaaga
     2881 caccctaccc agggcctggg ctcagggtct ctggggagca atccctgact tgggggctgg
     2941 gtggcccctc acagtctcaa aagagaaagg gtgacccctt ggtctccagg aaggagaaga
     3001 agcagcattg tagccagtag gggcttctga gcaggctctc tggggccaat ccccaaggat
     3061 ggggctctgg catccgatgc cccaaagcgg tcaaaagctt cttctccccc agtgctgatc
     3121 ttgctgggcc ttagctttgg agggtagggg agggagggga gggagagggt ggctgaatgg
     3181 ggagggcagg aagggagggt ctggggggaa ggggctgggg agtgggggtg ggaagcagtg
     3241 cgttgggggc ctcgtgtgta agtgtgaata aatgtagttg tcttggaaaa tgc
//
