Leiden Muscular Dystrophy pages©

DMD gene: genomic Reference Sequence
- annotations only

(last modified January 31, 2004)


NOTE: complete genomic Reference Sequence (3.5 Mb file) available on request.


LOCUS       DMD_gene             2586749 bp    DNA     linear   PRI 
DEFINITION  Homo sapiens
ACCESSION   DMD_gene
VERSION
KEYWORDS    
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Unclassified.
FEATURES             Location/Qualifiers
     source          1..2586749
                     /organism="Homo sapiens"
                     /mol_type="genomic DNA"
     misc_feature    complement(1..139258)
                     /note="from GenBank AL050305"
     misc_feature    15790..15802
                     /note="SfiI-A site"
     gene            complement(51665..52734)
                     /gene="pseudogene similar to Lysosome-associated 
                     membrane glycoprotein (LAMP)"
                     /pseudo
     STS             112325..112568
                     /standard_name="CA-repat 5'DYS-III"
                     /note="GenBank AF209165"
     STS             complement(120377..120633)
                     /standard_name="CA-repeat 5'DYS-I"
                     /note="GenBank AF209163"
     STS             123204..123411
                     /standard_name="CA-repeat 5'DYS-II (DXS1242, 
                     sWXD2450)"
                     /note="GenBank AF209164"
     exon            124226..124576
                     /number=Dp427c exon 1
     STS             128456..128657
                     /standard_name="CA-repeat 5'DYS-IV"
                     /note="GenBank AF209166"
     misc_feature    complement(139159..273047)
                     /note="from GenBank AL031643"
     misc_feature    163173..163185
                     /note="SfiI-B site"
     STS             244455..244551
                     /standard_name="CA-repeat 5'DYS MSB (DXS1243, 
                     sWXD2452)"
     mRNA      join(252279..252553,443635..443696,614015..614107,
               618975..619052,640448..640540,647195..647367,
               654224..654342,764542..764723,765837..765965,
               818683..818871,819522..819703,849382..849532,
               867959..868078,889989..890090,890198..890305,
               897954..898133,918501..918676,945704..945827,
               961993..962080,972317..972558,978736..978916,
               991526..991671,995125..995337,999136..999249,
               1000241..1000396,1009003..1009173,1015197..1015379,
               1022521..1022655,1025445..1025594,1051922..1052083,
               1073654..1073764,1074161..1074334,1077370..1077525,
               1083155..1083325,1098636..1098815,1099125..1099253,
               1100877..1101047,1115307..1115429,1117755..1117892,
               1120549..1120701,1121553..1121735,1153559..1153753,
               1176134..1176306,1246737..1246884,1495286..1495461,
               1531573..1531720,1534055..1534204,1588427..1588612,
               1626981..1627082,1643717..1643825,1689608..1689840,
               1734052..1734169,1784214..1784425,1805656..1805810,
               1835938..1836127,1956347..1956519,1966856..1967012,
               1984697..1984817,1985426..1985694,2019173..2019319,
               2115166..2115244,2140142..2140202,2202784..2202845,
               2240679..2240753,2254101..2254302,2257133..2257218,
               2259682..2259839,2280896..2281062,2283319..2283430,
               2284995..2285131,2285830..2285868,2290196..2290261,
               2291387..2291452,2294199..2294357,2316282..2316525,
               2317386..2317509,2329606..2329698,2337127..2337158,
                     2341870..2344572)
                     /product="Dp427m"
     exon            252279..252553
                     /number=Dp427m exon 1
     STS             265662..266078
                     /standard_name="pERT84  (DXS142)"
                     /note="GenBank L37425"
     STS             complement(267981..268232)
                     /standard_name="CA-repeat 5'DYS MSA (5'-5n1, 
                     DXS1243)"
                     /note="GenBank X75920"
     misc_feature    complement(272948..391641)
                     /note="from GenBank AL109943"
     exon            335407..335688
                     /number=Dp427p exon 1
     STS             346349..346432
                     /standard_name="5'-5n3 (5' segment)"
                     /note="5' segment GenBank X75801"
     exon            385001..385748
                     /standard_name="cryptic exon X  (spliced in
                     blood-derived RNA)"
                     /note="GenBank L06900"
     misc_feature    complement(391542..407925)
                     /note="from GenBank AL139401"
     misc_feature    complement(407826..508040)
                     /note="from GenBank AL451144"
     exon            443635..443696
                     /number=2
     STS             480191..480374
                     /standard_name="CA-repeat 5'-5n3"
                     /note="3' segment of GenBank X75801"
     misc_feature    complement(507941..595005)
                     /note="from GenBank AL121880"
     misc_feature    complement(594906..797911)
                     /note="from GenBank AL096699"
     exon            614015..614107
                     /number=3
     exon            618975..619052
                     /number=4
     STS             632057..632215
                     /standard_name="CA-repeat 5'-5n4"
                     /note="GenBank X77678"
     exon            640448..640540
                     /number=5
     exon            647195..647367
                     /number=6
     exon            654224..654342
                     /number=7
     STS             676412..676640
                     /standard_name="CA-repeat DMDSTR07A"
                     /note="see http://www.DMD.nl/"
     STS             677573..677806
                     /standard_name="CA-repeat DMDSTR07B"
                     /note="see http://www.DMD.nl/"
     exon            764542..764723
                     /number=8
     exon            765837..765965
                     /number=9
     exon            818683..818871
                     /number=10
     exon            819522..819703
                     /number=11
     misc_feature    829626..829638
                     /note="SfiI-C site"
     exon            849382..849532
                     /number=12
     STS             865171..865588
                     /standard_name="pERT87-1 (DXS164)"
     exon            867959..868078
                     /number=13
     STS             881119..881262
                     /standard_name="pERT87-8 (DXS164)"
                     /note="GenBank L05531"
     exon            889989..890090
                     /number=14
     exon            890198..890305
                     /number=15
     exon            897954..898133
                     /number=16
     misc_feature    912110..913209
                     /note="from GenBank AL596023"
     misc_feature    complement(912440..1044728)
                     /note="from GenBank AL031542"
     STS             918281..920050
                     /standard_name="pERT87-15 (DXS164)"
                     /note="from GenBank L05532"
     exon            918501..918676
                     /number=17
     exon            945704..945827
                     /number=18
     exon            961993..962080
                     /number=19
     exon            972317..972558
                     /number=20
     exon            978736..978916
                     /number=21
     exon            991526..991671
                     /number=22
     exon            995125..995337
                     /number=23
     exon            999136..999249
                     /number=24
     exon            1000241..1000396
                     /number=25
     STS             complement(1007171..1007337)
                     /standard_name="CA-repeat 5'-7n4"
                     /note="GenBank X77677"
     exon            1009003..1009173
                     /number=26
     exon            1015197..1015379
                     /number=27
     exon            1022521..1022655
                     /number=28
     exon            1025445..1025594
                     /number=29
     misc_feature    1030345..1030357
                     /note="SfiI-D site"
     misc_feature    complement(1044629..1153727)
                     /note="from GenBank AL109609"
     exon            <1051585..1051673
                     /number=Dp260 exon 1
     exon            1051922..1052083
                     /number=30
     exon            1073654..1073764
                     /number=31
     exon            1074161..1074334
                     /number=32
     exon            1077370..1077525
                     /number=33
     exon            1083155..1083325
                     /number=34
     exon            1098636..1098815
                     /number=35
     exon            1099125..1099253
                     /number=36
     exon            1100877..1101047
                     /number=37
     exon            1115307..1115429
                     /number=38
     exon            1117755..1117892
                     /number=39
     exon            1120549..1120701
                     /number=40
     exon            1121553..1121735
                     /number=41
     misc_feature    1148476..1148488
                     /note="SfiI-E site"
     exon            1153559..1153753
                     /number=42
     misc_feature    complement(1153628..1249470)
                     /note="from GenBank AL139278"
     misc_feature    1158085..1158097
                     /note="SfiI-E' site"
     exon            1176134..1176306
                     /number=43
     exon            1246737..1246884
                     /number=44
     misc_feature    complement(1249371..1293088)
                     /note="from GenBank AC096506"
     STS             complement(1258700..1258881)
                     /standard_name="DXS1238  (STR-44)"
     misc_feature    1290984..1489069
                     /note="from GenBank AC078957"
     STS             1307097..1307277
                     /standard_name="CA-repeat IVS44SK12"
     STS             1307702..1307938
                     /standard_name="CA-repeat IVS44SK21"
                     /note="GenBank X77644"
     exon            <1308331..1308429
                     /number=Dp140 exon 1
     STS             complement(1400489..1400718)
                     /standard_name="DXS1219  (sWXD1257, AFM297yd1)"
     STS             1436489..1436710
                     /standard_name="CA-repeat P20"
     STS             1446218..1449219
                     /standard_name="P20a  (DXS269)"
                     /note="GenBank AF209182"
     STS             1483138..1484285
                     /standard_name="P20b  (DXS269)"
                     /note="GenBank AF209182"
     misc_feature    complement(1487982..1570982)
                     /note="from GenBank AC093193"
     exon            1495286..1495461
                     /number=exon 45
     STS             complement(1496359..1496532)
                     /standard_name="DXS1237 (STR-45.1)"
                     /note="GenBank AF209158"
     STS             1498777..1499328
                     /standard_name="STR-45.2  (CA-repeat)"
                     /note="GenBank AF209159"
     exon            1531573..1531720
                     /number=46
     exon            1534055..1534204
                     /number=47
     misc_feature    complement(1568337..1730210)
                     /note="from GenBank AC079864"
     exon            1588427..1588612
                     /number=48
     misc_feature    1592201..1592213
                     /note="SfiI-F site"
     STS             complement(1601783..1601891)
                     /standard_name="DXS997 (AFM217xa5)"
     STS             1617207..1617937
                     /standard_name="STR-48"
                     /note="GenBank AF209160"
     exon            1626981..1627082
                     /number=49
     STS             1641056..1641288
                     /standard_name="DXS1236 (STR-49)"
                     /note="GenBank AF209161"
     exon            1643717..1643825
                     /number=50
     STS             complement(1684007..1684248)
                     /standard_name="DXS1235 (STR-50), overlaps
                     DXS1067 (AFM234vg7)"
                     /note="GenBank AF209162 and Z23710"
     exon            1689608..1689840
                     /number=51
     STS             complement(1707243..1707391)
                     /standard_name="DXS1036 (AFM072h3)"
                     /note="GenBank Z23325"
     misc_feature    complement(1728642..1803642)
                     /note="from GenBank AC093167"
     exon            1734052..1734169
                     /number=52
     exon            1784214..1784425
                     /number=53
     misc_feature    1801572..1964768
                     /note="from GenBank AC079175"
     exon            1805656..1805810
                     /number=54
     misc_feature    1811813..1811825
                     /note="SfiI-G site"
     exon            1835938..1836127
                     /number=55
     exon            <1955502..1955592
                     /number=Dp116 exon 1
     exon            1956347..1956519
                     /number=56
     misc_feature    complement(1962769..2118301)
                     /note="from GenBank AC079177"
     exon            1966856..1967012
                     /number=57
     exon            1984697..1984817
                     /number=58
     exon            1985426..1985694
                     /number=59
     STS             1985874..1986124
                     /standard_name="CA-repeat DMD1-2c  (DXS1241)"
                     /note="GenBank X55151"
     exon            2019173..2019319
                     /number=60
     STS             2041420..2042539
                     /standard_name="VNTR J66"
     STS             complement(2042699..2042900)
                     /standard_name="J66 (DXS268)"
                     /note="GenBank Z11861"
     misc_feature    2051949..2051961
                     /note="SfiI-H site"
     misc_feature    2114546..2114558
                     /note="SfiI-I site"
     exon            2115166..2115244
                     /number=61
     misc_feature    2116800..2150639
                     /note="from GenBank AC090632"
     misc_feature    2127806..2127818
                     /note="SfiI-I' site"
     exon            2140142..2140202
                     /number=62
     misc_feature    complement(2148667..2336212)
                     /note="from GenBank AC078958"
     exon            <2196893..2196990
                     /standard_name="Dp71/Dp40 exon 1"
     exon            2202784..2202845
                     /number=63
     STS             2206932..2207138
                     /standard_name="CA-repeat STR62/63"
     STS             2220912..2221123
                     /standard_name="CA-repeat AFM283wg9  (DXS1214)"
                     /note="GenBank Z24023"
     exon            2240679..2240753
                     /number=64
     exon            2254101..2254302
                     /number=65
     exon            2257133..2257218
                     /number=66
     exon            2259682..2259839
                     /number=67
     exon            2280896..2281062
                     /number=68
     exon            2283319..2283430
                     /number=69
     exon            2284995..2285131
                     /number=70
     exon            2285830..2285868
                     /number=71
     exon            2290196..2290261
                     /number=72
     exon            2291387..2291452
                     /number=73
     exon            2294199..2294357
                     /number=74
     exon            2316282..2316525
                     /number=75
     exon            2317386..2317509
                     /number=76
     exon            2329606..2329698
                     /number=77
     misc_feature    complement(2334212..2339514)
                     /note="from GenBank AC079143"
     exon            2337127..2337158
                     /number=78
     misc_feature    complement(2337517..2435572)
                     /note="from GenBank AC006061"
     exon            2341870..2344572
                     /number=79
     STS             2342272..2342404
                     /standard_name="CA-repeat 3'DYS MS (DXS1234)"
     STS             2342887..2342955
                     /standard_name="TTGA-repeat MP1P (DXS503)"
     STS             2353883..2354166
                     /standard_name="CA-repeat DXS726"
     misc_feature    complement(2435370..2586749)
                     /note="from GenBank AC117405"
     STS             2534440..2534587
                     /standard_name="CA-repeat 3'-19n8"
                     /note="from GenBank X75580"

BASE COUNT   802444 a 469758 c 479764 g 834783 t

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