Electronic Supplement


Ultraconserved Elements in the Human Genome.

Bejerano G, Pheasant M, Makunin I, Stephen S, Kent WJ, Mattick JS, Haussler D.
Science, 304(5675), pp. 1321-1325 (2004).  free reprint  pubmed

Paper Abstract

There are 481 segments longer than 200 base pairs (bp) that are absolutely conserved (100% identity with no insertions or deletions) between orthologous regions of the human, rat, and mouse genomes. Nearly all of these segments are also conserved in the chicken and dog genomes, with an average of 95 and 99% identity, respectively. Many are also significantly conserved in fish. These ultraconserved elements of the human genome are most often located either overlapping exons in genes involved in RNA processing or in introns or nearby genes involved in the regulation of transcription and development. Along with more than 5000 sequences of over 100 bp that are absolutely conserved among the three sequenced mammals, these represent a class of genetic elements whose functions and evolutionary origins are yet to be determined, but which are more highly conserved between these species than are proteins and appear to be essential for the ontogeny of mammals and other vertebrates.

Figure 1

Chromosomal distribution of intervals:
chr1 ps pdf chr2 ps pdf chr3 ps pdf chr4 ps pdf chr5 ps pdf chr6 ps pdf chr7 ps pdf chr8 ps pdf
chr9 ps pdf chr10 ps pdf chr11 ps pdf chr12 ps pdf chr13 ps pdf chr14 ps pdf chr15 ps pdf chr16 ps pdf
chr17 ps pdf chr18 ps pdf chr19 ps pdf chr20 ps pdf chr21 ps pdf chr22 ps pdf chrX ps pdf chrY ps pdf
Note that you will probably need to scroll down when the figure first shows.
See Figure 1 and text for further details.

Raw Sequences

Download the Watson strand DNA of all the ultra conserved elements.

Build 35 (hg17) Custom Track

Click here to add a custom track of ultraconserved elements to the UCSC genome browser display of Human Build 35 (hg17).

Supplementary Table 1

In column type 'e' is exonic, 'n' is non-exonic and 'p' is possibly exonic.
Background colors for 'e' and 'n' mimic those of the tick marks of Figure 1.
In right half of table, columns contain the number of element bases overlapping the respective feature.
Build 34 (hg16) coords are of the element itself, yet the link will open a display three times its length, to show genomic context.
Consult text for full legend.

ultra conserved elementupstream genewithindownstream geneHumanAny SpeciesKnown Gene OverlapRNAfoldchickenFugu
nametypelengthBuild 34 (hg16) coordsdistancenamegenenamedistancemRNAspliced ESTmRNAESTUTRCDSintron10k upstr10k downintergenicp-valueoverlapidenticaloverlapidentical
uc.1p207chr1:10307243-1030744965151DFFAPEX14AK1309969928600066002070000.098820719600
uc.2n207chr1:10442089-1044229534690AK130996FLJ20321FLJ371182737830000002070000.870718918900
uc.3p225chr1:10460711-1046093553312AK130996FLJ20321FLJ37118255143000222002250000.181822521200
uc.4n359chr1:10467795-104681534286FLJ20321\NFLJ371182479250000000359000.4531359347359287
uc.5n214chr1:10490897-1049111027388FLJ20321\NFLJ371182249680000000002140.0574213212200179
uc.6p301chr1:10504667-1050496741158FLJ20321\NFLJ37118211111000301000003010.2363301288279237
uc.7p256chr1:10545679-1054593482170FLJ20321\NFLJ37118170144000235000002560.266325624700
uc.8n216chr1:10561364-1056157997855FLJ20321\NFLJ371181544990000000002160.2285207202207172
uc.9n202chr1:10634956-10635157171447FLJ20321\NFLJ37118809210000000002020.022220219500
uc.10n275chr1:10675120-10675394211611FLJ20321\NFLJ37118406840000000002750.0177275273275250
uc.12p201chr1:35077889-3507808968766FLJ23151SFPQZNF262140539000201002010000.6008201189201110
uc.13e237chr1:35786852-3578708836769EIF2C4EIF2C1EIF2C33689213713719719901371000000.1805201162160134
uc.14p213chr1:37908298-379085105531CGI-94\NPOU3F11506100010000021300.397121318500
uc.15n233chr1:37974370-3797460248625POU3F1\NRRAGC7425650000000002330.4661233229197183
uc.16p211chr1:38041493-38041703115748POU3F1\NRRAGC67546400024000002110.092921118000
uc.17n237chr1:38215445-38215681289700POU3F1\NRRAGC5014860000000002370.354323717100
uc.18n238chr1:44128955-4412919229316DMAP1PRNPIPFLJ105973821140000002380000.21422420900
uc.19n256chr1:44403606-44403861169431PRNPIP\NFLJ105971074450000000002560.857425624400
uc.20p269chr1:44415666-44415934181491PRNPIP\NFLJ105979537200025000002690.743526923900
uc.21n235chr1:48482903-48483137175140SPATA6FLJ14442FLJ11588803210000002350000.182823522300
ultra conserved elementupstream genewithindownstream geneHumanAny SpeciesKnown Gene OverlapRNAfoldchickenFugu
nametypelengthBuild 34 (hg16) coordsdistancenamegenenamedistancemRNAspliced ESTmRNAESTUTRCDSintron10k upstr10k downintergenicp-valueoverlapidenticaloverlapidentical
uc.22n308chr1:50376149-50376456119188DMRTA2FAF1LOC513364136910000003080000.1317308300284179
uc.23n229chr1:50405695-50405923148734DMRTA2FAF1LOC513363842240000002290000.025229226152112
uc.24n336chr1:50469063-50469398212102DMRTA2FAF1LOC513363207490000003360000.244133633100
uc.25n235chr1:50535952-50536186278991DMRTA2FAF1LOC513362539610000002350000.1622352337754
uc.26n212chr1:62739563-6273977438822AUTL1\NFOXD34192680000000002120.2032212212212191
uc.27n290chr1:62739797-6274008639056AUTL1\NFOXD34189560000000002900.0501290290290273
uc.28e355chr1:70066629-7006698325453FLJ20331SFRS11DKFZP566D13462985235518135535535503550000.0883355340167132
uc.29n219chr1:87244976-8724519411120LMO4\NAF11808913719520000000002190.0045219219219209
uc.30n243chr1:87451593-87451835217737LMO4\NAF11808911653110000000002430.246824323900
uc.31n253chr1:88395168-883954201161312LMO4\NAF1180892217260000000002530.011816816510392
uc.33e312chr1:96743538-967438499890BC030757PTBP2DPYD2712533436342690343120000.3978252251201124
uc.34e208chr1:96751973-9675218018325BC030757PTBP2DPYD26292217602082081760003200.01642082046231
uc.35p205chr1:97465205-97465409713056PTBP2DPYDAK092728506426000165002050000.271220518600
uc.36p264chr1:108587040-10858730336279FLJ30525FLJ10330FLJ358382429600158264002640000.142326425800
uc.37e202chr1:114578780-11457898141876AMPD1D1S155EFLJ2116835142931022022020932020000.90191421297448
uc.38n224chr1:161127332-161127555614407CDCA1\NPBX15888810000000002240.020222419500
uc.39n356chr1:161210912-161211267697987CDCA1\NPBX15051690000000003560.3389356338262208
uc.40p247chr1:161825339-1618255851312414CDCA1PBX1LMX1A534716000134002470000.025214113200
uc.41n216chr1:210655265-210655480151959RPS6KC1\NPROX15623030000000002160.0124216212194137
uc.42n266chr1:212945530-21294579593884AF155110\NUSH2A4579960000000002660.0594266265197167
ultra conserved elementupstream genewithindownstream geneHumanAny SpeciesKnown Gene OverlapRNAfoldchickenFugu
nametypelengthBuild 34 (hg16) coordsdistancenamegenenamedistancemRNAspliced ESTmRNAESTUTRCDSintron10k upstr10k downintergenicp-valueoverlapidenticaloverlapidentical
uc.43n257chr1:240842759-240843015232641SDCCAG8AKT3ZNF2383202900000002570000.123625725100
uc.44e230chr1:241164431-241164660211234AKT3ZNF238AK1246149695230191230230023000000.0586230218230144
uc.45e203chr1:241963410-2419636129728LOC116228HNRPUAK0959451157722030203203198005500.129820318600
uc.46e217chr1:241964327-24196454310645LOC116228HNRPUAK09594511484120320320321714954140000.6011210204217128
uc.47n227chr2:7796390-7796616590426RNF144\NAK1259052126060000000002270.0531227226167123
uc.48e298chr2:20462845-2046314253461SDC1PUM2ARHB16859623723724425802372980000.3291292285292181
uc.49e207chr2:33787944-3378815023748RASGRP3AK074867AK0574701377072071782071810178290000.8197207179207144
uc.50e222chr2:38950836-3895105714775GALMSFRS7GEMIN628836222222222222160282220000.406322221200
uc.51n207chr2:57947093-579472991359250AB067499\NVRK23010600000000002070.268920720700
uc.52n274chr2:59082720-59082993639695FANCL\NBCL11A15698420000000002740.087127427000
uc.53n232chr2:59107845-59108076664820FANCL\NBCL11A15447590000000002320.115123222500
uc.54n209chr2:59173937-59174145730912FANCL\NBCL11A14786900000000002090.01420920600
uc.55n240chr2:59721112-597213511278087FANCL\NBCL11A9314840000000002400.118624022700
uc.56n202chr2:59922365-599225661479340FANCL\NBCL11A7302690000000002020.273320220100
uc.57n246chr2:60113774-601140191670749FANCL\NBCL11A5388160000000002460.029400184138
uc.58n203chr2:60272497-602726991829472FANCL\NBCL11A3801360000000002030.4592203203203184
uc.59n220chr2:60272917-602731361829892FANCL\NBCL11A3796990000000002200.4273220211178104
uc.60n217chr2:60416094-604163101973069FANCL\NBCL11A2365250000000002170.0137137119133118
uc.61e326chr2:60662107-606624322219082FANCLBCL11APAPOLG2957063268232632603263260000.0181326304326250
uc.62e234chr2:60755216-607554492312191FANCLBCL11APAPOLG202689875872228700147000.05083726222152
ultra conserved elementupstream genewithindownstream geneHumanAny SpeciesKnown Gene OverlapRNAfoldchickenFugu
nametypelengthBuild 34 (hg16) coordsdistancenamegenenamedistancemRNAspliced ESTmRNAESTUTRCDSintron10k upstr10k downintergenicp-valueoverlapidenticaloverlapidentical
uc.63e278chr2:61727035-6172731254511USP34XPO1AK0233673104131520152276002780000.019527826611769
uc.64p245chr2:63168625-63168869460614TMEM17NACSINOTX18365700245245002450000.2002245244210136
uc.65n212chr2:66273125-66273336639280SPRED2\NMEIS13637290000000002120.078321220100
uc.66n247chr2:73149541-7314978713526EMX1SFXN5GAF11252590000002470000.070724722900
uc.67n217chr2:104358126-1043583421302855FLJ30294\NPOU3F37350260000000002170.122521721511989
uc.68n255chr2:144125491-144125745114847KYNUARHGAP15AK1267747821310000002550000.4332255255221169
uc.69n301chr2:144322879-144323179312235KYNUARHGAP15AK1267745846970000003010000.127714514500
uc.70p237chr2:144648108-144648344637464KYNUARHGAP15AK126774259532000237002370000.0567237234237181
uc.71n248chr2:144923625-14492387212536AK126774BC017741ZFHX1B4324810000002480000.283824824212983
uc.72n407chr2:144925741-14492614714652AK126774BC017741ZFHX1B4302060000004070000.1375407407407350
uc.73p201chr2:144973082-14497328261993AK126774BC017741ZFHX1B383071000181002010000.2973178175177124
uc.74p538chr2:145036732-145037269125643AK126774BC017741ZFHX1B319084005370005380000.1131538537217194
uc.75e236chr2:145356619-14535685455811BC017741ZFHX1BAK098835725932360236236236000000.319228228224194
uc.76n335chr2:145371902-14537223671094BC017741ZFHX1BAK098835572110007003350000.5486335330216172
uc.77e296chr2:145396534-14539682995726BC017741ZFHX1BAK09883532618296029629629602960000.4681296294262226
uc.78n248chr2:145399123-14539937098315BC017741ZFHX1BAK098835300770000002480000.448624823611083
uc.79p295chr2:145407946-145408240107138BC017741ZFHX1BAK0988352120700021002950000.342929529300
uc.80n294chr2:145411621-145411914110813BC017741ZFHX1BAK098835175330000002940000.015129429100
uc.81n211chr2:147344834-1473450441856184ZFHX1B\NACVR214679090000000002110.0947211209211159
uc.82n210chr2:156929644-15692985378091AK096400\NNR4A24536420000000002100.192210208177122
ultra conserved elementupstream genewithindownstream geneHumanAny SpeciesKnown Gene OverlapRNAfoldchickenFugu
nametypelengthBuild 34 (hg16) coordsdistancenamegenenamedistancemRNAspliced ESTmRNAESTUTRCDSintron10k upstr10k downintergenicp-valueoverlapidenticaloverlapidentical
uc.83n296chr2:157194172-157194467342619AK096400\NNR4A21890280000000002960.0062296295296275
uc.84p209chr2:157397251-1573974595522NR4A2\NGPD2973072090209202000209000.099120919900
uc.85n248chr2:157753959-157754206111497GPD2\NGALNT55626780000000002480.1195248247248230
uc.86n340chr2:157862655-157862994220193GPD2\NGALNT54538900000000003400.434934033800
uc.87n290chr2:158102814-158103103460352GPD2\NGALNT52137810000000002900.6705290281276174
uc.88n312chr2:162297586-1622978972359TANK\NPSMD14697000000000031200.0095272260272219
uc.89p307chr2:162441217-162441523145990TANKPSMD14TBR133918000295003070000.130430730300
uc.90e206chr2:162475571-1624757764800PSMD14TBR1AK09551117152206206206206020600000.1748206199206168
uc.91n207chr2:163247566-16324777236264GCGFAPMDA5783610070002070000.5494002514
uc.92n309chr2:164653223-164653531755438KCNH7\NFIGN131370000000003090.0809309308309269
uc.93n263chr2:164864451-164864713193762FIGN\NGRB146871630000000002630.0007263262249194
uc.94n200chr2:165046714-165046913376025FIGN\NGRB145049630000000002000.0207200199194142
uc.95p251chr2:171774074-171774324452AK123485\NGAD110129100244251000251000.1473251243251235
uc.96p261chr2:173023218-17302347869928SLC25A12HAT1DLX1129306000145002610000.053926125000
uc.97e442chr2:173025175-17302561671885SLC25A12HAT1DLX112716844211244211601053370000.2843442432442331
uc.98n238chr2:173159062-1731592992118DLX1\NDLX277050000000023800.1343238236237179
uc.99n398chr2:173160925-1731613223981DLX1\NDLX256820000000039800.065398395398348
uc.100n207chr2:174317324-174317530197164RAPGEF4ZAKCDCA71045930000002070000.02822072079283
uc.101e254chr2:174977025-174977278204375M19503SP3AK095037775992542542542541886600000.3511254246233142
uc.102e338chr2:175148953-17514929091488AK095037PTD004AK1282152524199597952260952430000.1274338332335249
ultra conserved elementupstream genewithindownstream geneHumanAny SpeciesKnown Gene OverlapRNAfoldchickenFugu
nametypelengthBuild 34 (hg16) coordsdistancenamegenenamedistancemRNAspliced ESTmRNAESTUTRCDSintron10k upstr10k downintergenicp-valueoverlapidenticaloverlapidentical
uc.103p233chr2:175172216-175172448114751AK095037PTD004AK128215229261000233002330000.1949233220196166
uc.104n216chr2:175189478-175189693132013AK095037PTD004AK1282152120160000002160000.2721216210216132
uc.105n223chr2:175192331-175192553134866AK095037PTD004AK1282152091560000002230000.0371223221167122
uc.106p206chr2:175227967-175228172170502AK095037PTD004AK12821517353700037002060000.721620619900
uc.107n237chr2:175410152-1754103885313AK128215\NCIR5035000000023723700.029915414200
uc.108n374chr2:177142901-17714327473365KIAA1715\NHOXD13168010000000003740.1367314310374355
uc.109n224chr2:177705882-177706105678BC013438\NhnRNPA35739660000000224000.266422422200
uc.110n243chr2:237358132-23735837437490CENTG2\NGBX228430000000024300.32662432283218
uc.111p296chr3:9446461-944675632708AK128398\NAB0515443920225225246296000296000.00180000
uc.483p402chr3:17567733-17568134351576AK125129TBC1D5SATB179710900041004020000.0344402400402334
uc.112n346chr3:18144568-18144913387164TBC1D5\NSATB12203300000000003460.1555338337338299
uc.113p247chr3:18651408-18651654196199SATB1\NKCNH851336600022000002470.078224721500
uc.114n294chr3:18819454-18819747364245SATB1\NKCNH83452730000000002940.1157294280291195
uc.115n219chr3:19009162-19009380553953SATB1\NKCNH81556400000000002190.297721921500
uc.116n206chr3:70499494-70499699548937MITF\NAK125942961190000000002060.0018206200206152
uc.117n251chr3:70792683-70792933192800AK125942\NFOXP11362710000000002510.4338251245251218
uc.118n219chr3:70792935-70793153193052AK125942\NFOXP11360510000000002190.14662192177441
uc.119n301chr3:115754368-11575466840423AF116655ZNF288AF1198864052510000003010000.293730029200
uc.120p270chr3:115755940-11575620941995AF116655ZNF288AF119886403710000263002700000.006327026000
uc.121n293chr3:115896375-11589666797686ZNF288\NAF1198862632520000000002930.307729328800
ultra conserved elementupstream genewithindownstream geneHumanAny SpeciesKnown Gene OverlapRNAfoldchickenFugu
nametypelengthBuild 34 (hg16) coordsdistancenamegenenamedistancemRNAspliced ESTmRNAESTUTRCDSintron10k upstr10k downintergenicp-valueoverlapidenticaloverlapidentical
uc.122n215chr3:115932792-115933006134103ZNF288\NAF1198862269130000000002150.146621520300
uc.123n492chr3:138304453-138304944253619MGC34923\NSOX144995430000000004920.0814492482483432
uc.124n287chr3:138369353-138369639318519MGC34923\NSOX144348480009000002870.064287284266243
uc.125n265chr3:138389226-138389490338392MGC34923\NSOX144149970000000002650.0714265261243156
uc.126n271chr3:138446557-138446827395723MGC34923\NSOX143576600000000002710.027271271257237
uc.127n272chr3:148351617-148351888768212PLSCR1\NZIC4743530000000002720.4969272267272222
uc.128p299chr3:148370547-148370845787142PLSCR1\NZIC455396000201000002990.0517299295299238
uc.129e212chr3:153485296-153485507105607AY358260MBNL1P2RY13881375455551660542120000.6306212181212204
uc.130p224chr3:159097487-159097710457554BC029129\NSHOX237047000224000002240.0406224220224202
uc.131n207chr3:159310953-159311159156935AF257098MGC12197MLF12987360000002070000.2111207203207160
uc.132n208chr3:159347072-159347279193054AF257098MGC12197MLF12626160000002080000.0442208203208122
uc.133n277chr3:159347391-159347667193373AF257098MGC12197MLF12622280000002770000.2992277275221202
uc.134p211chr3:159566817-159567027412799AF257098MGC12197MLF14286800211211002110000.0323211203211193
uc.135e201chr3:170155196-1701553961021196GOLPH4EVI1ARPM165022920120120120102012010000.2597201198201137
uc.136p347chr3:170514865-17051521194639EVI1AK096400ARPM1290414000230003470000.343334734100
uc.137n385chr3:181757770-181758154101240TTC14AL122120FXR11932200000003850000.127838538200
uc.138e419chr3:186970209-186970627106483IMP-2SFRS10ETV511588793277345419004190000.4022419407347206
uc.139p338chr4:4587982-4588319102655D4S234ESTX18MSX1337647000224003380000.8228338315338213
uc.140n223chr4:12760753-127609751579350HS3ST1\NBC0350543592550000000002230.444122321000
uc.141e295</