Visualization of regulatory element with DNMs in transcripts


Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.
Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000264741 [[37493609, 37494050], [37512497, 37512625], [37514844, 37514951], [37522974, 37523098], [37535991, 37536059], [37544668, 37544798], [37547490, 37547576], [37550049, 37550118], [37555253, 37555391], [37558994, 37559100], [37560750, 37560845], [37565011, 37565102], [37567516, 37567562], [37574804, 37574959], [37583915, 37584076], [37670677, 37670827], [37695204, 37695281], [37725355, 37725506], [37774202, 37774289], [37778394, 37778474], [37783220, 37783310], [37785416, 37785525], [37791952, 37792060], [37818882, 37819008], [37821392, 37821512], [37826467, 37826569], [37845313, 37845433], [37860381, 37865005]] [[37493865, 37494050], [37512497, 37512625], [37514844, 37514951], [37522974, 37523098], [37535991, 37536059], [37544668, 37544798], [37547490, 37547576], [37550049, 37550118], [37555253, 37555391], [37558994, 37559100], [37560750, 37560845], [37565011, 37565102], [37567516, 37567562], [37574804, 37574959], [37583915, 37584076], [37670677, 37670827], [37695204, 37695281], [37725355, 37725506], [37774202, 37774289], [37778394, 37778474], [37783220, 37783310], [37785416, 37785525], [37791952, 37792060], [37818882, 37819008], [37821392, 37821512], [37826467, 37826569], [37845313, 37845433], [37860381, 37860480]]
ENST00000461533 [[37725366, 37725506], [37774202, 37774490]] None
ENST00000422441 [[37493605, 37494050], [37512497, 37512625], [37514844, 37514951], [37522974, 37523098], [37535991, 37536059], [37544668, 37544798], [37547490, 37547576], [37550049, 37550118], [37555253, 37555391], [37558994, 37559100], [37560750, 37560845], [37565011, 37565102], [37567516, 37567562], [37574804, 37574959], [37583915, 37584076], [37670677, 37671010]] [[37493865, 37494050], [37512497, 37512625], [37514844, 37514951], [37522974, 37523098], [37535991, 37536059], [37544668, 37544798], [37547490, 37547576], [37550049, 37550118], [37555253, 37555391], [37558994, 37559100], [37560750, 37560845], [37565011, 37565102], [37567516, 37567562], [37574804, 37574959], [37583915, 37584076], [37670677, 37670887]]
ENST00000411817 [[37821505, 37821512], [37826467, 37826569], [37860381, 37860881]] [[37821505, 37821512], [37826467, 37826569], [37860381, 37860480]]
NM_002207 [[37493812, 37494050], [37512497, 37512625], [37514844, 37514951], [37522974, 37523098], [37535991, 37536059], [37544668, 37544798], [37547490, 37547576], [37550049, 37550118], [37555253, 37555391], [37558994, 37559100], [37560750, 37560845], [37565011, 37565102], [37567516, 37567562], [37574804, 37574959], [37583915, 37584076], [37670677, 37670827], [37695204, 37695281], [37725355, 37725506], [37774202, 37774289], [37778394, 37778474], [37783220, 37783310], [37785416, 37785525], [37791952, 37792060], [37818882, 37819008], [37821392, 37821512], [37826467, 37826569], [37845313, 37845433], [37860381, 37861281]] [[37493865, 37494050], [37512497, 37512625], [37514844, 37514951], [37522974, 37523098], [37535991, 37536059], [37544668, 37544798], [37547490, 37547576], [37550049, 37550118], [37555253, 37555391], [37558994, 37559100], [37560750, 37560845], [37565011, 37565102], [37567516, 37567562], [37574804, 37574959], [37583915, 37584076], [37670677, 37670827], [37695204, 37695281], [37725355, 37725506], [37774202, 37774289], [37778394, 37778474], [37783220, 37783310], [37785416, 37785525], [37791952, 37792060], [37818882, 37819008], [37821392, 37821512], [37826467, 37826569], [37845313, 37845433], [37860381, 37860480]]
Promoter
Chrom Start End Description
chr3 37493590 37493607 CAGE_peak_2_at_ITGA9_5end
chr3 37493612 37493651 CAGE_peak_1_at_ITGA9_5end
chr3 37493675 37493680 CAGE_peak_3_at_ITGA9_5end
chr3 37725131 37725145 CAGE_peak_4_at_ITGA9_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I037607 37607440 37610200 1.02 [{'connected_gene': 'EPM2AIP1', 'score': 30.02}, {'connected_gene': 'ENSG00000271993', 'score': 26.67}, {'connected_gene': 'NDUFAF4P3', 'score': 23.41}, {'connected_gene': 'RPL18AP7', 'score': 21.09}, {'connected_gene': 'ENSG00000271653', 'score': 12.27}, {'connected_gene': 'ACVR2B', 'score': 12.06}, {'connected_gene': 'RNU7-73P', 'score': 11.48}, {'connected_gene': 'ITGA9-AS1', 'score': 10.78}, {'connected_gene': 'ITGA9', 'score': 10.72}, {'connected_gene': 'ENSG00000272334', 'score': 10.04}, {'connected_gene': 'GC03P037721', 'score': 0.14}]
chr3 GH03I037162 37162197 37164591 0.94 [{'connected_gene': 'LRRFIP2', 'score': 75.18}, {'connected_gene': 'RNU6-1301P', 'score': 12.71}, {'connected_gene': 'RPS16P4', 'score': 12.14}, {'connected_gene': 'ITGA9', 'score': 6.0}, {'connected_gene': 'GC03P037179', 'score': 0.39}, {'connected_gene': 'UBE2FP1', 'score': 0.37}, {'connected_gene': 'GC03P036930', 'score': 0.07}]
chr3 GH03I037764 37764464 37769098 1.83 [{'connected_gene': 'ITGA9', 'score': 13.79}, {'connected_gene': 'OXSR1', 'score': 4.97}, {'connected_gene': 'GC03P037748', 'score': 0.37}, {'connected_gene': 'NDUFAF4P3', 'score': 0.34}, {'connected_gene': 'ITGA9-AS1', 'score': 0.16}]
chr3 GH03I037451 37451788 37459797 2.52 [{'connected_gene': 'ITGA9', 'score': 565.63}, {'connected_gene': 'LRRFIP2', 'score': 9.34}, {'connected_gene': 'GOLGA4', 'score': 8.77}, {'connected_gene': 'GC03M037573', 'score': 0.13}]
chr3 GH03I037485 37485451 37485456 0.6 [{'connected_gene': 'ITGA9', 'score': 12.55}, {'connected_gene': 'C3orf35', 'score': 12.54}, {'connected_gene': 'RNU7-73P', 'score': 10.93}, {'connected_gene': 'GC03M037573', 'score': 0.17}]
chr3 GH03I037474 37474158 37475858 0.76 [{'connected_gene': 'ITGA9', 'score': 13.12}, {'connected_gene': 'RNU7-73P', 'score': 11.54}, {'connected_gene': 'LRRFIP2', 'score': 8.56}, {'connected_gene': 'GOLGA4', 'score': 5.02}, {'connected_gene': 'GC03M037573', 'score': 0.15}]
chr3 GH03I037476 37476170 37479786 0.87 [{'connected_gene': 'ITGA9', 'score': 22.66}, {'connected_gene': 'RNU7-73P', 'score': 11.54}, {'connected_gene': 'LRRFIP2', 'score': 4.15}, {'connected_gene': 'GC03M037573', 'score': 0.15}]
chr3 GH03I037769 37769210 37773558 0.98 [{'connected_gene': 'ITGA9', 'score': 11.13}, {'connected_gene': 'RNU7-73P', 'score': 11.09}, {'connected_gene': 'CTDSPL', 'score': 10.66}, {'connected_gene': 'ITGA9-AS1', 'score': 10.66}, {'connected_gene': 'NDUFAF4P3', 'score': 0.37}, {'connected_gene': 'GC03P037748', 'score': 0.34}]
chr3 GH03I037505 37505801 37508557 0.38 [{'connected_gene': 'ITGA9', 'score': 20.1}, {'connected_gene': 'RNU7-73P', 'score': 11.34}, {'connected_gene': 'ITGA9-AS1', 'score': 4.54}, {'connected_gene': 'GC03M037573', 'score': 0.2}]
chr3 GH03I037589 37589988 37592671 0.92 [{'connected_gene': 'ITGA9', 'score': 14.86}, {'connected_gene': 'RNU7-73P', 'score': 0.37}, {'connected_gene': 'GC03P037721', 'score': 0.13}]
chr3 GH03I037497 37497536 37500449 0.38 [{'connected_gene': 'ITGA9', 'score': 20.37}, {'connected_gene': 'RNU7-73P', 'score': 11.51}, {'connected_gene': 'GC03M037573', 'score': 0.19}]
chr3 GH03I037703 37703651 37704393 0.2 [{'connected_gene': 'ITGA9', 'score': 10.76}, {'connected_gene': 'RNU7-73P', 'score': 10.72}, {'connected_gene': 'GC03P037721', 'score': 0.37}]
chr3 GH03I037537 37537174 37539031 0.43 [{'connected_gene': 'ITGA9', 'score': 17.56}, {'connected_gene': 'RNU7-73P', 'score': 12.46}, {'connected_gene': 'GC03M037573', 'score': 0.28}]
chr3 GH03I037521 37521530 37521569 0.43 [{'connected_gene': 'ITGA9', 'score': 12.23}, {'connected_gene': 'RNU7-73P', 'score': 11.98}, {'connected_gene': 'GC03M037573', 'score': 0.23}]
chr3 GH03I037491 37491423 37494800 0.94 [{'connected_gene': 'ITGA9', 'score': 19.87}, {'connected_gene': 'RNU7-73P', 'score': 10.94}, {'connected_gene': 'GC03M037573', 'score': 0.18}]
chr3 GH03I037487 37487490 37488467 0.2 [{'connected_gene': 'ITGA9', 'score': 12.0}, {'connected_gene': 'GC03M037573', 'score': 0.17}]
chr3 GH03I037510 37510990 37511883 0.66 [{'connected_gene': 'ITGA9', 'score': 0.22}, {'connected_gene': 'GC03M037573', 'score': 0.21}]
chr3 GH03I037556 37556402 37557600 0.4 [{'connected_gene': 'ITGA9', 'score': 7.62}, {'connected_gene': 'GC03M037573', 'score': 0.37}]
chr3 GH03I037386 37386647 37387200 0.31 [{'connected_gene': 'C3orf35', 'score': 550.77}, {'connected_gene': 'GOLGA4', 'score': 7.37}, {'connected_gene': 'ITGA9', 'score': 0.2}, {'connected_gene': 'GC03P036930', 'score': 0.05}]
chr3 GH03I037462 37462181 37463160 0.38 [{'connected_gene': 'GOLGA4', 'score': 8.58}, {'connected_gene': 'ITGA9', 'score': 0.39}, {'connected_gene': 'GC03M037573', 'score': 0.14}]
chr3 GH03I037812 37812801 37813000 0.2 [{'connected_gene': 'CTDSPL', 'score': 10.58}, {'connected_gene': 'ITGA9-AS1', 'score': 10.58}, {'connected_gene': 'NDUFAF4P3', 'score': 0.34}, {'connected_gene': 'ITGA9', 'score': 0.05}]
chr3 GH03I037806 37806210 37806359 0.54 [{'connected_gene': 'NDUFAF4P3', 'score': 0.37}, {'connected_gene': 'ITGA9-AS1', 'score': 0.22}, {'connected_gene': 'ITGA9', 'score': 0.05}]
chr3 GH03I037029 37029902 37030824 0.4 [{'connected_gene': 'RPS16P4', 'score': 11.41}, {'connected_gene': 'ITGA9', 'score': 5.12}, {'connected_gene': 'GC03P037026', 'score': 0.77}, {'connected_gene': 'GC03P037025', 'score': 0.77}, {'connected_gene': 'GC03M037070', 'score': 0.28}, {'connected_gene': 'MLH1', 'score': 0.28}, {'connected_gene': 'GC03P036930', 'score': 0.15}]
chr3 GH03I036968 36968732 36971058 1.39 [{'connected_gene': 'RNU6ATAC4P', 'score': 550.77}, {'connected_gene': 'GC03M036968', 'score': 550.77}, {'connected_gene': 'GC03M036969', 'score': 550.77}, {'connected_gene': 'LRRFIP2', 'score': 60.48}, {'connected_gene': 'EPM2AIP1', 'score': 14.63}, {'connected_gene': 'MLH1', 'score': 13.73}, {'connected_gene': 'TRANK1', 'score': 12.32}, {'connected_gene': 'GOLGA4', 'score': 2.18}, {'connected_gene': 'ITGA9', 'score': 1.18}, {'connected_gene': 'ENSG00000272334', 'score': 0.77}, {'connected_gene': 'GC03P036930', 'score': 0.28}]
chr3 GH03I037707 37707487 37708927 0.31 [{'connected_gene': 'RNU7-73P', 'score': 11.09}, {'connected_gene': 'OXSR1', 'score': 4.75}, {'connected_gene': 'GC03P037721', 'score': 0.39}, {'connected_gene': 'ITGA9', 'score': 0.07}]
chr3 GH03I037602 37602805 37603196 0.31 [{'connected_gene': 'RNU7-73P', 'score': 12.32}, {'connected_gene': 'GC03P037721', 'score': 0.13}, {'connected_gene': 'ITGA9', 'score': 0.1}]
chr3 GH03I037693 37693332 37695308 0.72 [{'connected_gene': 'RNU7-73P', 'score': 11.02}, {'connected_gene': 'GC03P037721', 'score': 0.31}, {'connected_gene': 'ITGA9', 'score': 0.07}]
chr3 GH03I037611 37611096 37612078 0.2 [{'connected_gene': 'RNU7-73P', 'score': 11.99}, {'connected_gene': 'GC03P037721', 'score': 0.14}, {'connected_gene': 'ITGA9', 'score': 0.1}]
chr3 GH03I037605 37605970 37606976 0.49 [{'connected_gene': 'RNU7-73P', 'score': 11.25}, {'connected_gene': 'ITGA9', 'score': 10.72}, {'connected_gene': 'GC03P037721', 'score': 0.14}]
chr3 GH03I037642 37642674 37643540 0.64 [{'connected_gene': 'RNU7-73P', 'score': 0.2}, {'connected_gene': 'GC03P037721', 'score': 0.18}, {'connected_gene': 'ITGA9', 'score': 0.08}]
chr3 GH03I037578 37578130 37579548 0.43 [{'connected_gene': 'RNU7-73P', 'score': 0.44}, {'connected_gene': 'ITGA9', 'score': 0.13}, {'connected_gene': 'GC03P037721', 'score': 0.11}]
chr3 GH03I037581 37581285 37583133 0.63 [{'connected_gene': 'RNU7-73P', 'score': 0.44}, {'connected_gene': 'GC03P037721', 'score': 0.12}, {'connected_gene': 'ITGA9', 'score': 0.12}]
chr3 GH03I037543 37543790 37543939 0.2 [{'connected_gene': 'RNU7-73P', 'score': 12.78}, {'connected_gene': 'ITGA9', 'score': 11.74}, {'connected_gene': 'GC03M037573', 'score': 0.31}]
chr3 GH03I037604 37604722 37605550 0.43 [{'connected_gene': 'RNU7-73P', 'score': 11.66}, {'connected_gene': 'ITGA9', 'score': 11.21}, {'connected_gene': 'GC03P037721', 'score': 0.13}]
chr3 GH03I037579 37579803 37580831 0.4 [{'connected_gene': 'RNU7-73P', 'score': 0.44}, {'connected_gene': 'ITGA9', 'score': 0.13}, {'connected_gene': 'GC03P037721', 'score': 0.11}]
chr3 GH03I037600 37600226 37602228 0.31 [{'connected_gene': 'RNU7-73P', 'score': 12.32}, {'connected_gene': 'GC03P037721', 'score': 0.13}, {'connected_gene': 'ITGA9', 'score': 0.11}]
chr3 GH03I037526 37526650 37526839 0.2 [{'connected_gene': 'RNU7-73P', 'score': 11.85}, {'connected_gene': 'GC03M037573', 'score': 0.25}, {'connected_gene': 'ITGA9', 'score': 0.19}]
chr3 GH03I037576 37576863 37577668 0.2 [{'connected_gene': 'RNU7-73P', 'score': 0.77}, {'connected_gene': 'ITGA9', 'score': 0.13}, {'connected_gene': 'GC03P037721', 'score': 0.11}]
chr3 GH03I037595 37595095 37596322 0.79 [{'connected_gene': 'RNU7-73P', 'score': 12.35}, {'connected_gene': 'ITGA9', 'score': 4.33}, {'connected_gene': 'GC03P037721', 'score': 0.13}]
chr3 GH03I037586 37586171 37587160 0.31 [{'connected_gene': 'RNU7-73P', 'score': 0.39}, {'connected_gene': 'GC03P037721', 'score': 0.12}, {'connected_gene': 'ITGA9', 'score': 0.12}]
chr3 GH03I037603 37603303 37604429 0.31 [{'connected_gene': 'RNU7-73P', 'score': 11.73}, {'connected_gene': 'GC03P037721', 'score': 0.13}, {'connected_gene': 'ITGA9', 'score': 0.1}]
chr3 GH03I037542 37542990 37543139 0.52 [{'connected_gene': 'RNU7-73P', 'score': 12.76}, {'connected_gene': 'ITGA9', 'score': 11.74}, {'connected_gene': 'GC03M037573', 'score': 0.29}]
chr3 GH03I037705 37705312 37706941 0.2 [{'connected_gene': 'RNU7-73P', 'score': 11.09}, {'connected_gene': 'ITGA9', 'score': 10.76}, {'connected_gene': 'GC03P037721', 'score': 0.37}]
chr3 GH03I037584 37584792 37585489 0.2 [{'connected_gene': 'RNU7-73P', 'score': 0.39}, {'connected_gene': 'GC03P037721', 'score': 0.12}, {'connected_gene': 'ITGA9', 'score': 0.12}]
chr3 GH03I037544 37544886 37545703 0.49 [{'connected_gene': 'RNU7-73P', 'score': 12.78}, {'connected_gene': 'ITGA9', 'score': 11.74}, {'connected_gene': 'GC03M037573', 'score': 0.31}]
chr3 GH03I037689 37689286 37691908 0.46 [{'connected_gene': 'RNU7-73P', 'score': 11.02}, {'connected_gene': 'GC03P037721', 'score': 0.29}, {'connected_gene': 'ITGA9', 'score': 0.07}]
chr3 GH03I037692 37692491 37692551 0.22 [{'connected_gene': 'RNU7-73P', 'score': 11.02}, {'connected_gene': 'C3orf35', 'score': 1.97}, {'connected_gene': 'ITGA9', 'score': 1.3}, {'connected_gene': 'GC03P037721', 'score': 0.31}]
chr3 GH03I037466 37466453 37469540 0.2 [{'connected_gene': 'RNU7-73P', 'score': 10.89}, {'connected_gene': 'GOLGA4', 'score': 4.28}, {'connected_gene': 'ITGA9', 'score': 0.37}, {'connected_gene': 'GC03M037573', 'score': 0.14}]
chr3 GH03I037651 37651135 37653961 0.2 [{'connected_gene': 'RNU7-73P', 'score': 11.0}, {'connected_gene': 'CTDSPL', 'score': 4.99}, {'connected_gene': 'GC03P037721', 'score': 0.2}, {'connected_gene': 'ITGA9', 'score': 0.08}]
chr3 GH03I037645 37645026 37647120 0.58 [{'connected_gene': 'RNU7-73P', 'score': 11.44}, {'connected_gene': 'CTDSPL', 'score': 4.82}, {'connected_gene': 'GC03P037721', 'score': 0.18}, {'connected_gene': 'ITGA9', 'score': 0.08}]
chr3 GH03I037628 37628078 37629821 0.85 [{'connected_gene': 'RNU7-73P', 'score': 11.54}, {'connected_gene': 'CTDSPL', 'score': 4.58}, {'connected_gene': 'GC03P037721', 'score': 0.16}, {'connected_gene': 'ITGA9', 'score': 0.1}]
chr3 GH03I037598 37598195 37599764 0.52 [{'connected_gene': 'RNU7-73P', 'score': 12.32}, {'connected_gene': 'NDUFAF4P3', 'score': 10.66}, {'connected_gene': 'CTDSPL', 'score': 9.85}, {'connected_gene': 'GC03P037721', 'score': 0.13}, {'connected_gene': 'ITGA9', 'score': 0.11}]
chr3 GH03I037673 37673117 37675690 0.31 [{'connected_gene': 'RPL29P11', 'score': 4.81}, {'connected_gene': 'GC03P037721', 'score': 0.25}, {'connected_gene': 'RNU7-73P', 'score': 0.15}, {'connected_gene': 'ITGA9', 'score': 0.07}]
chr3 GH03I037676 37676291 37677511 0.43 [{'connected_gene': 'RPL29P11', 'score': 4.81}, {'connected_gene': 'GC03P037721', 'score': 0.26}, {'connected_gene': 'RNU7-73P', 'score': 0.15}, {'connected_gene': 'ITGA9', 'score': 0.07}]
chr3 GH03I037654 37654100 37654547 0.2 [{'connected_gene': 'RPL29P11', 'score': 4.14}, {'connected_gene': 'GC03P037721', 'score': 0.2}, {'connected_gene': 'RNU7-73P', 'score': 0.18}, {'connected_gene': 'ITGA9', 'score': 0.08}]
chr3 GH03I036881 36881615 36883294 0.38 [{'connected_gene': 'ENSG00000234073', 'score': 560.65}, {'connected_gene': 'ITGA9', 'score': 4.32}, {'connected_gene': 'GC03M036882', 'score': 0.37}, {'connected_gene': 'TRANK1', 'score': 0.14}]
chr3 GH03I037670 37670833 37671924 0.66 [{'connected_gene': 'GC03P037721', 'score': 0.25}, {'connected_gene': 'RNU7-73P', 'score': 0.15}, {'connected_gene': 'ITGA9', 'score': 0.08}]
chr3 GH03I037668 37668715 37669575 0.85 [{'connected_gene': 'GC03P037721', 'score': 0.23}, {'connected_gene': 'RNU7-73P', 'score': 0.15}, {'connected_gene': 'ITGA9', 'score': 0.08}]
chr3 GH03I037660 37660368 37663133 0.49 [{'connected_gene': 'GC03P037721', 'score': 0.22}, {'connected_gene': 'RNU7-73P', 'score': 0.17}, {'connected_gene': 'ITGA9', 'score': 0.08}]
chr3 GH03I037712 37712150 37714597 0.51 [{'connected_gene': 'GC03P037721', 'score': 0.44}, {'connected_gene': 'RNU7-73P', 'score': 0.11}, {'connected_gene': 'ITGA9', 'score': 0.07}]
chr3 GH03I037686 37686131 37687084 0.31 [{'connected_gene': 'GC03P037721', 'score': 0.29}, {'connected_gene': 'RNU7-73P', 'score': 0.14}, {'connected_gene': 'ITGA9', 'score': 0.07}]
chr3 GH03I037701 37701867 37702210 0.31 [{'connected_gene': 'GC03P037721', 'score': 0.37}, {'connected_gene': 'RNU7-73P', 'score': 0.13}, {'connected_gene': 'ITGA9', 'score': 0.07}]
chr3 GH03I037679 37679966 37681219 0.51 [{'connected_gene': 'GC03P037721', 'score': 0.26}, {'connected_gene': 'RNU7-73P', 'score': 0.14}, {'connected_gene': 'ITGA9', 'score': 0.07}]

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