LOCUS       NM_001135924            5220 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens von Willebrand factor D and EGF domains (VWDE),
            transcript variant 1, mRNA.
ACCESSION   NM_001135924 XM_371878
VERSION     NM_001135924.3
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 5220)
  AUTHORS   Niu,N., Schaid,D.J., Abo,R.P., Kalari,K., Fridley,B.L., Feng,Q.,
            Jenkins,G., Batzler,A., Brisbin,A.G., Cunningham,J.M., Li,L.,
            Sun,Z., Yang,P. and Wang,L.
  TITLE     Genetic association with overall survival of taxane-treated lung
            cancer patients - a genome-wide association study in human
            lymphoblastoid cell lines followed by a clinical association study
  JOURNAL   BMC Cancer 12, 422 (2012)
   PUBMED   23006423
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC013470.10 and AC007321.2.
            
            On Nov 22, 2018 this sequence version replaced NM_001135924.2.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.2536407.1,
                                           SRR18074969.477620.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000275358.8/ ENSP00000275358.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-207               AC013470.10        119329-119535
            208-392             AC013470.10        129416-129600
            393-624             AC013470.10        133836-134067
            625-690             AC013470.10        139593-139658
            691-938             AC013470.10        142461-142708
            939-1028            AC013470.10        143628-143717
            1029-1173           AC013470.10        145274-145418
            1174-1391           AC013470.10        147967-148184
            1392-1465           AC013470.10        148432-148505
            1466-1736           AC013470.10        149947-150217
            1737-1945           AC013470.10        152330-152538
            1946-2910           AC013470.10        152685-153649
            2911-3047           AC013470.10        155701-155837
            3048-3203           AC013470.10        161673-161828
            3204-3308           AC013470.10        161943-162047
            3309-3423           AC013470.10        163502-163616
            3424-3674           AC013470.10        165679-165929
            3675-3894           AC013470.10        166864-167083
            3895-4035           AC007321.2         958-1098
            4036-4131           AC007321.2         8202-8297
            4132-4227           AC007321.2         8381-8476
            4228-4323           AC007321.2         9493-9588
            4324-4419           AC007321.2         10517-10612
            4420-4515           AC007321.2         12254-12349
            4516-4611           AC007321.2         15399-15494
            4612-4707           AC007321.2         15588-15683
            4708-4803           AC007321.2         16435-16530
            4804-4907           AC007321.2         19103-19206
            4908-5220           AC007321.2         21474-21786
FEATURES             Location/Qualifiers
     source          1..5220
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p21.3"
     gene            1..5220
                     /gene="VWDE"
                     /note="von Willebrand factor D and EGF domains"
                     /db_xref="GeneID:221806"
                     /db_xref="HGNC:HGNC:21897"
     exon            1..207
                     /gene="VWDE"
                     /inference="alignment:Splign:2.1.0"
     CDS             150..4922
                     /gene="VWDE"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; von Willebrand factor D and EGF
                     domain-containing protein"
                     /codon_start=1
                     /product="von Willebrand factor D and EGF
                     domain-containing protein isoform 1 precursor"
                     /protein_id="NP_001129396.1"
                     /db_xref="CCDS:CCDS47544.1"
                     /db_xref="GeneID:221806"
                     /db_xref="HGNC:HGNC:21897"
                     /translation="MPGGACVLVIALMFLAWGEAQECSPGGHQFLRSPYRSVRFDSWH
                     LQQSAVQDLICDHSLSPGWYRFLILDRPAEMPTKCVEMNHCGTQAPIWLSLRDSETLP
                     SPGEIKQLTACATWQFLFSTTKDCCLFQIPVSVRNCGNFSVYLLQPTQGCMGYCAEAI
                     SDARLHPCGSDETETGGDCVRQLAASLPPPPAGRPEVLVELIESRLFCRCSFDVPATK
                     NSVGFHIAWSRLSSQEVKEELTQETTVQAFSLLELDGINLRLGDRIFCSASVFFLENP
                     HVQSVAIESQEFFAGFKLQPELSTISEDGKEYYLRIESTVPIICSEFSELDQECKISL
                     KLKTIGQGREHLGLNLALSSCHVDLLQTSSCANGTCSHTFVYYTAVTDFSRDGDRVSN
                     IVVQPIVNEDFLWNNYIPDSIQIKVKDVPTAYCYTFTDPHIITFDGRVYDNFKTGTFV
                     LYKSMSRDFEVHVRQWDCRSLHYPVSCNCGFVAQEGGDIVTFDMCNGQLRESQPYLFI
                     KSQDVTRNIKISESYLGRKVTIWFSSGAFIRADLGEWGMSLTIRAPSVDYRNTLGLCG
                     TFDENPENDFHDKNGMQIDQNFNNYVAFINEWRILPGKSMSDTLPVSMTSPGKPSYCS
                     CSLDTAAYPSSEDLDSVSRSEIALGCKDLNHVSLSSLIPELDVTSEYINSDTLVREIN
                     KHTSPEEYNLNLFLQEKKHINLTKLGLNVQKHPGNEKEDSLQYLANKKYTQGRGSHSQ
                     EMRYNRQNRWKRQNFHEFPPLFAFPSLSQTDLEELTYFFPEDHAEDVQQEFFPSWPTP
                     SGLTEYSTLTLCQETLANSSIGRLCLAFLGKRLDSVIEMCVKDVLLKDDLSWAEAGVA
                     LLENECEKRIVEEGKYNTEEYGTSIEDILSVLKCPNLCSGNGQCMEWGCACSPSFSSY
                     DCSDSYDKAPEITELGNAGFCDVQKYNCMMVRVFGKGFKELPSIKCEVTKLQYNSSEW
                     MPGEPIYTQTVFHNSRAVDCQLPTDVQQFDTMDLVGGKPTGKWQLKVSNDGYKFSNPK
                     ITVIYDGACQVCGLYKNDSCTIKENVCIIDGLCYVEGDKNPTSPCLICRPKISRFTWS
                     FLENNQPPVIQALQDKLQTFYGENFEYQFVAFDPEGSDIHFTLDSGPEGASVSSAGLF
                     MWKTDLLTTQQITVRLNDDCDAETRVTIEVTVKSCDCLNGGSCVSDRNFSPGSGVYLC
                     VCLPGFHGSLCEVDISGCQSNPCGLGSYISGFHSYSCDCPPELKVETQFVNQFTTQTV
                     VLTRSDKSVNKEEDDKNAQGRKRHVKPTSGNAFTICKYPCGKSRECVAPNICKCKPGY
                     IGSNCQTALCDPDCKNHGKCIKPNICQCLPGHGGATCDEEHCNPPCQHGGTCLAGNLC
                     TCPYGFVGPRCETMVCNRHCENGGQCLTPDICQCKPGWYGPTCSTALCDPVCLNGGSC
                     NKPNTCLCPNGFFGEHCQNAFCHPPCKNGGHCMRNNVCVCREGYTGRRFQKSICDPTC
                     MNGGKCVGPSTCSCPSGWSGKRCNTPICLQKCKNGGECIAPSICHCPSSWEGVRCQIP
                     ICNPKCLYGGRCIFPNVCSCRTEYSGVKCEKKIQIRRH"
     exon            208..392
                     /gene="VWDE"
                     /inference="alignment:Splign:2.1.0"
     exon            393..624
                     /gene="VWDE"
                     /inference="alignment:Splign:2.1.0"
     exon            625..690
                     /gene="VWDE"
                     /inference="alignment:Splign:2.1.0"
     exon            691..938
                     /gene="VWDE"
                     /inference="alignment:Splign:2.1.0"
     exon            939..1028
                     /gene="VWDE"
                     /inference="alignment:Splign:2.1.0"
     exon            1029..1173
                     /gene="VWDE"
                     /inference="alignment:Splign:2.1.0"
     exon            1174..1391
                     /gene="VWDE"
                     /inference="alignment:Splign:2.1.0"
     exon            1392..1465
                     /gene="VWDE"
                     /inference="alignment:Splign:2.1.0"
     exon            1466..1736
                     /gene="VWDE"
                     /inference="alignment:Splign:2.1.0"
     exon            1737..1945
                     /gene="VWDE"
                     /inference="alignment:Splign:2.1.0"
     exon            1946..2910
                     /gene="VWDE"
                     /inference="alignment:Splign:2.1.0"
     exon            2911..3047
                     /gene="VWDE"
                     /inference="alignment:Splign:2.1.0"
     exon            3048..3203
                     /gene="VWDE"
                     /inference="alignment:Splign:2.1.0"
     exon            3204..3308
                     /gene="VWDE"
                     /inference="alignment:Splign:2.1.0"
     exon            3309..3423
                     /gene="VWDE"
                     /inference="alignment:Splign:2.1.0"
     exon            3424..3674
                     /gene="VWDE"
                     /inference="alignment:Splign:2.1.0"
     exon            3675..3894
                     /gene="VWDE"
                     /inference="alignment:Splign:2.1.0"
     exon            3895..4035
                     /gene="VWDE"
                     /inference="alignment:Splign:2.1.0"
     exon            4036..4131
                     /gene="VWDE"
                     /inference="alignment:Splign:2.1.0"
     exon            4132..4227
                     /gene="VWDE"
                     /inference="alignment:Splign:2.1.0"
     exon            4228..4323
                     /gene="VWDE"
                     /inference="alignment:Splign:2.1.0"
     exon            4324..4419
                     /gene="VWDE"
                     /inference="alignment:Splign:2.1.0"
     exon            4420..4515
                     /gene="VWDE"
                     /inference="alignment:Splign:2.1.0"
     exon            4516..4611
                     /gene="VWDE"
                     /inference="alignment:Splign:2.1.0"
     exon            4612..4707
                     /gene="VWDE"
                     /inference="alignment:Splign:2.1.0"
     exon            4708..4803
                     /gene="VWDE"
                     /inference="alignment:Splign:2.1.0"
     exon            4804..4907
                     /gene="VWDE"
                     /inference="alignment:Splign:2.1.0"
     exon            4908..5220
                     /gene="VWDE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5193..5198
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VWDE"
                     /note="hexamer: AATAAA"
     polyA_site      5220
                     /gene="VWDE"
                     /note="major polyA site"
ORIGIN      
        1 agaacgagga cgcggagctt ccctgttcca agcagcaaca gactgagaaa atccaagaaa
       61 ggaggcccga ggggctgctg tggccccatc ctcctggcac ccgcggcccg ggctctgcga
      121 cgcctttcgc cccacctgcg gaagcagcga tgcctggcgg agcctgcgtg ctggtgatcg
      181 cgctgatgtt cctggcctgg ggggaagctc aggagtgctc tcctggggga caccagtttc
      241 ttcggagtcc ttatagaagt gtccgttttg actcatggca cctccagcag tcagctgttc
      301 aagacctaat atgtgaccat tccctctccc ctggatggta tagatttctc atccttgaca
      361 gacctgccga gatgccaacc aaatgtgttg agatgaacca ttgtggaact caggccccca
      421 tctggctgtc tctgagagat tcagaaacac tgccatctcc tggggagatc aagcaattga
      481 cagcttgtgc aacatggcag tttttgttca gcactacaaa agactgctgt ctctttcaaa
      541 tcccagtgtc tgtaagaaac tgtgggaact tttctgtata cttactacaa ccaactcagg
      601 gatgtatggg ctactgtgcg gaagctattt ctgatgcacg attacaccca tgtggttctg
      661 atgaaactga aacaggaggt gattgtgttc gtcagctggc tgcctcattg ccacctccac
      721 ctgcaggaag gccagaggtt ctggtggagt tgattgagtc caggcttttc tgtaggtgtt
      781 cttttgatgt tcccgctaca aaaaactcag tgggatttca catagcttgg tctaggcttt
      841 cttctcaaga agtcaaagag gagctgacac aagagaccac agttcaggca ttctctcttt
      901 tagaacttga tggcataaat ctcagacttg gagacaggat attctgcagc gcttctgtct
      961 ttttcttgga gaatcctcat gtacaaagtg tagccatcga aagccaagaa ttttttgcag
     1021 gctttaagct acagcctgaa ttgagcacta tatcagagga tgggaaagaa tactacctga
     1081 ggatagaaag cacagttcct attatttgtt ctgaatttag tgagcttgat caagaatgca
     1141 aaatctcatt aaaactgaaa actattggtc aaggtagaga gcacctaggc ttaaatttgg
     1201 cactgtcttc ctgtcatgtg gaccttctcc agacatcttc ctgtgctaat ggaacctgta
     1261 gccacacttt tgtgtactac actgctgtca cagatttttc tcgagatgga gatagagtct
     1321 caaacattgt agtgcaacca atagttaatg aggatttcct gtggaacaac tacattccag
     1381 acagcatcca gatcaaagta aaggatgtcc caactgctta ctgctataca tttactgacc
     1441 cacatataat tacatttgat ggcagggtat atgataattt caagactgga acatttgtgc
     1501 tttataagag tatgtcacgt gattttgaag tccatgtacg tcagtgggac tgcagaagcc
     1561 ttcactatcc agtgtcatgt aattgtgggt ttgttgccca ggaaggaggt gatatagtta
     1621 cttttgatat gtgcaatggt cagctacgtg aatcacaacc atatttgttc ataaaaagcc
     1681 aagatgtaac caggaatatc aagataagtg aatcttactt aggaagaaaa gtcacaatct
     1741 ggttttcttc tggggcattt atccgtgctg atcttggtga atggggcatg agtctaacga
     1801 tcagagcccc tagtgtagat tacagaaaca ctctgggact ttgtggaacc tttgatgaaa
     1861 atccggaaaa tgatttccat gacaaaaatg ggatgcaaat tgatcaaaat tttaacaatt
     1921 atgttgcttt tattaatgaa tggaggattt taccaggaaa aagcatgtct gacacactgc
     1981 cagtttctat gacatcacct ggaaagccat cctattgtag ctgttcattg gacactgcag
     2041 cgtatccgtc ttccgaagat ctggacagtg tttctcgatc agaaattgcc ttgggttgca
     2101 aagacctcaa tcatgtcagc ttatcttctt tgataccaga actagatgtc acctccgaat
     2161 atattaattc agacactctt gtcagagaga taaacaagca tacatctcca gaagaatata
     2221 atctaaattt atttctgcaa gaaaaaaaac acataaacct gactaaactc ggcttaaatg
     2281 tacaaaaaca tcctggaaat gagaaagaag attcactaca atatttggcc aataagaaat
     2341 atacacaagg ccggggaagc cacagccaag aaatgaggta caatcgacaa aacagatgga
     2401 aacggcagaa ctttcatgag tttcctcctt tgtttgcttt cccgagtctc agccaaacgg
     2461 atctggaaga acttacttat tttttcccag aggaccatgc tgaggatgta cagcaagagt
     2521 ttttcccctc ttggcccact ccctctggcc tcaccgagta tagcaccttg accctctgtc
     2581 aggagactct agccaactcc agcataggaa ggctgtgtct tgcttttctt ggcaagagat
     2641 tagacagtgt tatagagatg tgtgtgaagg atgttctgtt aaaagatgat cttagttggg
     2701 cagaagcagg tgtggccctt ttagaaaatg aatgtgaaaa gaggattgtg gaggagggga
     2761 aatataacac agaagagtat ggcacatcaa ttgaagacat tctctcagta ttaaaatgcc
     2821 ccaatttatg cagcggcaat gggcagtgca tggaatgggg gtgtgcgtgt tccccaagct
     2881 ttagttccta tgactgcagt gattcctatg acaaagctcc tgaaattaca gagcttggga
     2941 atgctggatt ctgtgatgtt caaaaatata attgtatgat ggtgagagtt tttggcaaag
     3001 gcttcaaaga attaccttca attaaatgtg aagttactaa gctacagtat aatagcagtg
     3061 aatggatgcc tggagaaccc atctatacac agactgtttt ccacaatagc agagctgttg
     3121 attgtcagct gcccactgat gttcagcagt ttgataccat ggatctggtg ggtgggaaac
     3181 caactgggaa gtggcagttg aaggtatcta atgatggtta taaattcagt aatcccaaaa
     3241 taacggtcat atatgatggt gcttgccaag tttgtggtct ctataaaaat gactcatgta
     3301 ctataaagga aaatgtttgc attattgatg gactctgcta tgttgaagga gacaaaaatc
     3361 caaccagccc ttgtttgatt tgtagaccca aaatttcaag atttacttgg tcatttttag
     3421 aaaacaacca gcccccagtg attcaagcat tgcaagacaa attacagaca ttttatggtg
     3481 aaaactttga gtatcagttc gtggccttcg atccagaagg ttctgacatc cattttacgt
     3541 tggactctgg tcctgaaggg gcaagtgttt cctctgcagg gctttttatg tggaaaacag
     3601 atttactaac tacccaacaa attactgtac gccttaatga tgactgcgat gctgaaacta
     3661 gagtcacgat tgaggtgact gtgaagtctt gtgattgctt gaatggtgga tcatgtgtat
     3721 ctgataggaa cttttctcca gggagtggag tgtacctgtg tgtctgcttg cctggcttcc
     3781 atggcagcct ttgtgaagtg gacattagtg ggtgccaatc caacccttgt ggtcttggca
     3841 gctatattag tggttttcac agttattcct gtgattgtcc acctgagctc aaagttgaaa
     3901 cacagtttgt aaatcaattt actacacaaa ctgtggttct cacaagatct gataaaagtg
     3961 taaataaaga agaggatgat aaaaatgccc aagggagaaa gaggcatgtt aagccaacaa
     4021 gtggaaatgc cttcaccatt tgtaaatatc catgtggaaa aagtagggag tgtgttgccc
     4081 caaacatctg caaatgtaaa cctggttaca ttggttctaa ctgccaaact gctctttgtg
     4141 accctgattg caaaaaccat ggaaaatgta ttaagcctaa catttgtcag tgtcttccag
     4201 gacatggtgg agcaacctgt gatgaagaac attgtaaccc accttgtcaa catggtggca
     4261 catgcttggc tgggaatctc tgcacttgtc cttatggttt tgtaggacca aggtgtgaaa
     4321 caatggtttg taacaggcac tgtgaaaatg gaggccagtg tcttacacca gatatttgcc
     4381 agtgcaaacc tggctggtat ggacccacct gtagtacagc tttgtgcgac cctgtctgcc
     4441 tcaatggtgg ttcgtgtaat aagccaaata cttgcctctg tccaaatgga ttctttgggg
     4501 aacactgtca gaatgctttc tgtcaccctc cctgtaagaa tggtggccac tgcatgagaa
     4561 ataatgtgtg cgtctgtcgt gaaggataca ctggtaggag attccaaaaa agcatctgtg
     4621 atcctacgtg catgaatgga ggaaaatgtg tgggaccaag cacttgctct tgtccttctg
     4681 gttggagtgg gaaacgatgc aacacaccta tctgcttgca gaaatgtaaa aacggtggtg
     4741 aatgcattgc gcccagcata tgccattgtc cttcctcctg ggaaggagtg cggtgtcaaa
     4801 taccaatttg caacccaaaa tgtctttatg gaggcagatg catatttccc aatgtgtgtt
     4861 cctgccgcac tgaatactct ggagtcaaat gtgagaagaa aatacagata agacgccatt
     4921 gagtagcatc aagtatatga attacaagcc tgtatcttaa gaatggaaat attttgttca
     4981 gaaaaagttg gagataactt ggagtttatt tgaacatcat tcaaaaaata tcttaaagac
     5041 tgaagaaact aataaaatac ataatgatct ctgttgtaat catagagaaa agcaaagaag
     5101 aaatccaggt aatctaaatt tgatgttgag atgggatagg atatttacat attgagatga
     5161 tgtatctgat attccaccca ttcacaatat ttaataaact gaatattttc tcagccctaa
//
