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
ENST00000449913 [[10353814, 10354029], [10377909, 10378006], [10378870, 10378944], [10387105, 10387178], [10390443, 10390612], [10391653, 10391843], [10394193, 10394255], [10394864, 10394897], [10397404, 10397456], [10400895, 10400954], [10402170, 10402251], [10402495, 10402564], [10402644, 10402719], [10403518, 10403653], [10405669, 10405789], [10407213, 10407314], [10410250, 10410388], [10411444, 10411649], [10414544, 10414614], [10415599, 10415781], [10417381, 10417516], [10423846, 10423936], [10426501, 10426634], [10430004, 10430140], [10433705, 10434073]] [[10354010, 10354029], [10377909, 10378006], [10378870, 10378944], [10387105, 10387178], [10390443, 10390612], [10391653, 10391843], [10394193, 10394255], [10394864, 10394897], [10397404, 10397456], [10400895, 10400954], [10402170, 10402251], [10402495, 10402564], [10402644, 10402719], [10403518, 10403653], [10405669, 10405789], [10407213, 10407314], [10410250, 10410388], [10411444, 10411649], [10414544, 10414614], [10415599, 10415781], [10417381, 10417516], [10423846, 10423936], [10426501, 10426634], [10430004, 10430140], [10433705, 10433796]]
ENST00000502795 [[10353822, 10354029], [10377909, 10378006], [10378870, 10378944], [10390443, 10390612], [10391653, 10391686]] [[10354010, 10354029], [10377909, 10378006], [10378870, 10378944], [10390443, 10390487]]
ENST00000511802 [[10353826, 10354029], [10377909, 10378006], [10378870, 10378944], [10381911, 10382055], [10387105, 10387178], [10390443, 10390612], [10391653, 10391843], [10394193, 10394255], [10394864, 10394897], [10397404, 10397456], [10400895, 10402251], [10402495, 10402564], [10402644, 10402719], [10403518, 10403653], [10405669, 10405789], [10407213, 10407314], [10410250, 10410388], [10411444, 10411649], [10414544, 10414614], [10415599, 10415781], [10417381, 10417516], [10423846, 10423936], [10426501, 10426634], [10430004, 10430140], [10433705, 10434397]] None
ENST00000503788 [[10353827, 10354029], [10387105, 10387178], [10390443, 10390612], [10391653, 10391843], [10394193, 10394255], [10394864, 10394897], [10397404, 10397456], [10400895, 10400954], [10402170, 10402251], [10402495, 10402564], [10402644, 10402719], [10403518, 10403653], [10405669, 10405789], [10407213, 10407314], [10410250, 10410388], [10411444, 10411649], [10414544, 10414614], [10415599, 10415781], [10417381, 10417516], [10423846, 10423936], [10426501, 10426634], [10430004, 10430140], [10433705, 10434069]] [[10354010, 10354029], [10387105, 10387178], [10390443, 10390612], [10391653, 10391843], [10394193, 10394255], [10394864, 10394897], [10397404, 10397456], [10400895, 10400954], [10402170, 10402251], [10402495, 10402564], [10402644, 10402719], [10403518, 10403653], [10405669, 10405789], [10407213, 10407314], [10410250, 10410388], [10411444, 10411649], [10414544, 10414614], [10415599, 10415781], [10417381, 10417516], [10423846, 10423936], [10426501, 10426634], [10430004, 10430140], [10433705, 10433796]]
ENST00000274140 [[10353878, 10354029], [10377909, 10378006], [10378870, 10378944], [10381911, 10382055], [10387105, 10387178], [10390443, 10390612], [10391653, 10391843], [10394193, 10394255], [10394864, 10394897], [10397404, 10397456], [10400895, 10400954], [10402170, 10402251], [10402495, 10402564], [10402644, 10402719], [10403518, 10403653], [10405669, 10405789], [10407213, 10407314], [10410250, 10410388], [10411444, 10411649], [10414544, 10414614], [10415599, 10415781], [10417381, 10417516], [10423846, 10423936], [10426501, 10426634], [10430004, 10430140], [10433705, 10440500]] [[10354010, 10354029], [10377909, 10378006], [10378870, 10378944], [10381911, 10382055], [10387105, 10387178], [10390443, 10390612], [10391653, 10391843], [10394193, 10394255], [10394864, 10394897], [10397404, 10397456], [10400895, 10400954], [10402170, 10402251], [10402495, 10402564], [10402644, 10402719], [10403518, 10403653], [10405669, 10405789], [10407213, 10407314], [10410250, 10410388], [10411444, 10411649], [10414544, 10414614], [10415599, 10415781], [10417381, 10417516], [10423846, 10423936], [10426501, 10426634], [10430004, 10430140], [10433705, 10433796]]
ENST00000510872 [[10354079, 10354108], [10377909, 10378006], [10378870, 10378944], [10381911, 10382055], [10387105, 10387178], [10390443, 10390603]] None
ENST00000507863 [[10354750, 10354783], [10377909, 10378006], [10378870, 10378944], [10381911, 10382055], [10387105, 10387178], [10390443, 10390604]] None
ENST00000506131 [[10387036, 10387178], [10390443, 10390612]] None
ENST00000514961 [[10401044, 10401598], [10402170, 10402251], [10402495, 10402563]] None
ENST00000510792 [[10401968, 10402251], [10402495, 10402564], [10402644, 10402719], [10403518, 10403653], [10405669, 10405789], [10407213, 10407314], [10410250, 10410388], [10411444, 10411649], [10414544, 10414614], [10415599, 10415781], [10417381, 10417516], [10423846, 10423936], [10426501, 10426634], [10430004, 10430140], [10433705, 10433796]] [[10402104, 10402251], [10402495, 10402564], [10402644, 10402719], [10403518, 10403653], [10405669, 10405789], [10407213, 10407314], [10410250, 10410388], [10411444, 10411649], [10414544, 10414614], [10415599, 10415781], [10417381, 10417516], [10423846, 10423936], [10426501, 10426634], [10430004, 10430140], [10433705, 10433796]]
ENST00000512449 [[10410264, 10410388], [10411444, 10411649], [10414544, 10414614], [10415584, 10415781], [10417381, 10417516], [10423846, 10423947]] None
ENST00000505253 [[10413385, 10413562], [10414544, 10414614], [10415599, 10415781], [10417381, 10417522], [10422042, 10422148]] None
ENST00000514312 [[10415710, 10415781], [10417381, 10417563]] None
ENST00000606497 [[10434040, 10434319], [10436906, 10437961]] None
NM_001270661 [[10353750, 10354029], [10387105, 10387178], [10390443, 10390612], [10391653, 10391843], [10394193, 10394255], [10394864, 10394897], [10397404, 10397456], [10400895, 10400954], [10402170, 10402251], [10402495, 10402564], [10402644, 10402719], [10403518, 10403653], [10405669, 10405789], [10407213, 10407314], [10410250, 10410388], [10411444, 10411649], [10414544, 10414614], [10415599, 10415781], [10417381, 10417516], [10423846, 10423936], [10426501, 10426634], [10430004, 10430140], [10433705, 10440500]] [[10354010, 10354029], [10387105, 10387178], [10390443, 10390612], [10391653, 10391843], [10394193, 10394255], [10394864, 10394897], [10397404, 10397456], [10400895, 10400954], [10402170, 10402251], [10402495, 10402564], [10402644, 10402719], [10403518, 10403653], [10405669, 10405789], [10407213, 10407314], [10410250, 10410388], [10411444, 10411649], [10414544, 10414614], [10415599, 10415781], [10417381, 10417516], [10423846, 10423936], [10426501, 10426634], [10430004, 10430140], [10433705, 10433796]]
NM_001270660 [[10353750, 10354029], [10377909, 10378006], [10378870, 10378944], [10387105, 10387178], [10390443, 10390612], [10391653, 10391843], [10394193, 10394255], [10394864, 10394897], [10397404, 10397456], [10400895, 10400954], [10402170, 10402251], [10402495, 10402564], [10402644, 10402719], [10403518, 10403653], [10405669, 10405789], [10407213, 10407314], [10410250, 10410388], [10411444, 10411649], [10414544, 10414614], [10415599, 10415781], [10417381, 10417516], [10423846, 10423936], [10426501, 10426634], [10430004, 10430140], [10433705, 10440500]] [[10354010, 10354029], [10377909, 10378006], [10378870, 10378944], [10387105, 10387178], [10390443, 10390612], [10391653, 10391843], [10394193, 10394255], [10394864, 10394897], [10397404, 10397456], [10400895, 10400954], [10402170, 10402251], [10402495, 10402564], [10402644, 10402719], [10403518, 10403653], [10405669, 10405789], [10407213, 10407314], [10410250, 10410388], [10411444, 10411649], [10414544, 10414614], [10415599, 10415781], [10417381, 10417516], [10423846, 10423936], [10426501, 10426634], [10430004, 10430140], [10433705, 10433796]]
NM_005885 [[10353750, 10354029], [10377909, 10378006], [10378870, 10378944], [10381911, 10382055], [10387105, 10387178], [10390443, 10390612], [10391653, 10391843], [10394193, 10394255], [10394864, 10394897], [10397404, 10397456], [10400895, 10400954], [10402170, 10402251], [10402495, 10402564], [10402644, 10402719], [10403518, 10403653], [10405669, 10405789], [10407213, 10407314], [10410250, 10410388], [10411444, 10411649], [10414544, 10414614], [10415599, 10415781], [10417381, 10417516], [10423846, 10423936], [10426501, 10426634], [10430004, 10430140], [10433705, 10440500]] [[10354010, 10354029], [10377909, 10378006], [10378870, 10378944], [10381911, 10382055], [10387105, 10387178], [10390443, 10390612], [10391653, 10391843], [10394193, 10394255], [10394864, 10394897], [10397404, 10397456], [10400895, 10400954], [10402170, 10402251], [10402495, 10402564], [10402644, 10402719], [10403518, 10403653], [10405669, 10405789], [10407213, 10407314], [10410250, 10410388], [10411444, 10411649], [10414544, 10414614], [10415599, 10415781], [10417381, 10417516], [10423846, 10423936], [10426501, 10426634], [10430004, 10430140], [10433705, 10433796]]
Promoter
Chrom Start End Description
chr5 10353780 10353890 CAGE_peak_1_at_MARCH6_5end
chr5 10353997 10354010 CAGE_peak_2_at_MARCH6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I010630 10630889 10636467 1.4 [{'connected_gene': 'ANKRD33B', 'score': 2.42}, {'connected_gene': 'MARCH6', 'score': 1.85}, {'connected_gene': 'ANKRD33B-AS1', 'score': 0.44}, {'connected_gene': 'ENSG00000251196', 'score': 0.34}]
chr5 GH05I010562 10562290 10568572 2.2 [{'connected_gene': 'ANKRD33B', 'score': 553.96}, {'connected_gene': 'ANKRD33B-AS1', 'score': 11.29}, {'connected_gene': 'ROPN1L', 'score': 10.45}, {'connected_gene': 'ROPN1L-AS1', 'score': 10.45}, {'connected_gene': 'MARCH6', 'score': 10.34}, {'connected_gene': 'GC05M010581', 'score': 0.37}]
chr5 GH05I010606 10606496 10609033 1.45 [{'connected_gene': 'ANKRD33B', 'score': 14.73}, {'connected_gene': 'ANKRD33B-AS1', 'score': 12.11}, {'connected_gene': 'LINC02213', 'score': 11.48}, {'connected_gene': 'ROPN1L', 'score': 11.03}, {'connected_gene': 'ROPN1L-AS1', 'score': 11.03}, {'connected_gene': 'FAM173B', 'score': 10.77}, {'connected_gene': 'LINC01513', 'score': 10.66}, {'connected_gene': 'ENSG00000251196', 'score': 5.99}, {'connected_gene': 'MARCH6', 'score': 1.67}, {'connected_gene': 'GC05P010606', 'score': 0.77}]
chr5 GH05I010759 10759209 10763379 2.51 [{'connected_gene': 'DAP', 'score': 560.23}, {'connected_gene': 'LOC105374652', 'score': 556.43}, {'connected_gene': 'MARCH6', 'score': 9.66}, {'connected_gene': 'CMBL', 'score': 4.59}, {'connected_gene': 'ROPN1L', 'score': 2.06}, {'connected_gene': 'CTD-2154B17.1', 'score': 0.31}]
chr5 GH05I010264 10264749 10264898 0.46 [{'connected_gene': 'CCT5', 'score': 15.45}, {'connected_gene': 'CMBL', 'score': 11.02}, {'connected_gene': 'MARCH6', 'score': 10.67}, {'connected_gene': 'ANKRD33B-AS1', 'score': 10.4}, {'connected_gene': 'ROPN1L', 'score': 10.35}, {'connected_gene': 'ROPN1L-AS1', 'score': 10.35}, {'connected_gene': 'ENSG00000271980', 'score': 0.77}, {'connected_gene': 'PIR52519', 'score': 0.44}]
chr5 GH05I010248 10248323 10252398 2.31 [{'connected_gene': 'CCT5', 'score': 566.23}, {'connected_gene': 'FAM173B', 'score': 558.11}, {'connected_gene': 'MARCH6', 'score': 11.91}, {'connected_gene': 'CMBL', 'score': 10.43}, {'connected_gene': 'ENSG00000271980', 'score': 10.22}, {'connected_gene': 'ROPN1L', 'score': 10.2}, {'connected_gene': 'ROPN1L-AS1', 'score': 10.2}, {'connected_gene': 'ENSG00000248968', 'score': 0.77}, {'connected_gene': 'GC05M010252', 'score': 0.77}]
chr5 GH05I010356 10356601 10356800 0.46 [{'connected_gene': 'CMBL', 'score': 11.69}, {'connected_gene': 'ROPN1L', 'score': 10.39}, {'connected_gene': 'ROPN1L-AS1', 'score': 10.38}, {'connected_gene': 'MARCH6', 'score': 6.09}, {'connected_gene': 'LOC101929977', 'score': 0.77}, {'connected_gene': 'GC05M010364', 'score': 0.44}]
chr5 GH05I010357 10357549 10358385 1.09 [{'connected_gene': 'CMBL', 'score': 11.69}, {'connected_gene': 'ROPN1L', 'score': 10.39}, {'connected_gene': 'ROPN1L-AS1', 'score': 10.39}, {'connected_gene': 'MARCH6', 'score': 0.77}, {'connected_gene': 'LOC101929977', 'score': 0.77}, {'connected_gene': 'GC05M010364', 'score': 0.44}]
chr5 GH05I010304 10304905 10311495 2.5 [{'connected_gene': 'CMBL', 'score': 559.38}, {'connected_gene': 'MARCH6', 'score': 11.33}, {'connected_gene': 'ROPN1L', 'score': 9.24}, {'connected_gene': 'ROPN1L-AS1', 'score': 9.24}, {'connected_gene': 'FAM173B', 'score': 6.93}, {'connected_gene': 'CCT5', 'score': 6.44}, {'connected_gene': 'ENSG00000271980', 'score': 5.84}, {'connected_gene': 'LOC105374651', 'score': 0.44}, {'connected_gene': 'GC05M010284', 'score': 0.39}]
chr5 GH05I010376 10376654 10377309 0.46 [{'connected_gene': 'CMBL', 'score': 11.23}, {'connected_gene': 'MARCH6', 'score': 6.08}, {'connected_gene': 'GC05P010375', 'score': 0.77}, {'connected_gene': 'GC05P010396', 'score': 0.37}]
chr5 GH05I010313 10313575 10316878 0.57 [{'connected_gene': 'LOC105374651', 'score': 550.77}, {'connected_gene': 'MARCH6', 'score': 16.62}, {'connected_gene': 'ROPN1L', 'score': 10.41}, {'connected_gene': 'ROPN1L-AS1', 'score': 10.41}, {'connected_gene': 'GC05M010284', 'score': 0.77}, {'connected_gene': 'CMBL', 'score': 0.44}]
chr5 GH05I010311 10311706 10311798 0.93 [{'connected_gene': 'MARCH6', 'score': 11.34}, {'connected_gene': 'ROPN1L', 'score': 9.25}, {'connected_gene': 'ROPN1L-AS1', 'score': 9.24}, {'connected_gene': 'LOC105374651', 'score': 0.77}, {'connected_gene': 'CMBL', 'score': 0.77}, {'connected_gene': 'GC05M010284', 'score': 0.44}]
chr5 GH05I010421 10421402 10423014 0.79 [{'connected_gene': 'MARCH6', 'score': 18.29}, {'connected_gene': 'CMBL', 'score': 11.14}, {'connected_gene': 'ANKRD33B-AS1', 'score': 10.35}, {'connected_gene': 'FAM173B', 'score': 4.33}, {'connected_gene': 'GC05P010431', 'score': 0.44}, {'connected_gene': 'GC05P010396', 'score': 0.31}]
chr5 GH05I010387 10387526 10388104 0.43 [{'connected_gene': 'MARCH6', 'score': 11.84}, {'connected_gene': 'CMBL', 'score': 10.42}, {'connected_gene': 'GC05P010396', 'score': 0.44}, {'connected_gene': 'GC05P010375', 'score': 0.39}]
chr5 GH05I010323 10323586 10325435 0.8 [{'connected_gene': 'MARCH6', 'score': 11.52}, {'connected_gene': 'LOC105374651', 'score': 0.44}, {'connected_gene': 'PIR33262', 'score': 0.44}, {'connected_gene': 'GC05M010284', 'score': 0.44}]
chr5 GH05I010466 10466957 10468497 0.84 [{'connected_gene': 'MARCH6', 'score': 5.83}, {'connected_gene': 'GC05P010471', 'score': 0.77}, {'connected_gene': 'LOC105369214', 'score': 0.77}, {'connected_gene': 'ROPN1L', 'score': 0.31}]
chr5 GH05I010351 10351669 10356137 2.12 [{'connected_gene': 'MARCH6', 'score': 557.85}, {'connected_gene': 'GC05M010353', 'score': 550.77}, {'connected_gene': 'LOC101929977', 'score': 550.77}, {'connected_gene': 'CMBL', 'score': 11.69}, {'connected_gene': 'ROPN1L', 'score': 10.38}, {'connected_gene': 'ROPN1L-AS1', 'score': 10.38}]
chr5 GH05I010482 10481469 10481618 0.63 [{'connected_gene': 'MARCH6', 'score': 4.72}, {'connected_gene': 'LINC01513', 'score': 0.77}, {'connected_gene': 'RPL30P7', 'score': 0.44}, {'connected_gene': 'ROPN1L', 'score': 0.26}]
chr5 GH05I010445 10445001 10446200 0.74 [{'connected_gene': 'ANKRD33B-AS1', 'score': 11.68}, {'connected_gene': 'CMBL', 'score': 9.85}, {'connected_gene': 'MARCH6', 'score': 6.54}, {'connected_gene': 'ROPN1L', 'score': 0.77}, {'connected_gene': 'ROPN1L-AS1', 'score': 0.77}, {'connected_gene': 'LOC105369214', 'score': 0.37}]
chr5 GH05I010366 10366202 10367422 0.87 [{'connected_gene': 'GC05P010366', 'score': 550.77}, {'connected_gene': 'CMBL', 'score': 11.49}, {'connected_gene': 'ROPN1L', 'score': 10.5}, {'connected_gene': 'ROPN1L-AS1', 'score': 10.49}, {'connected_gene': 'FAM173B', 'score': 4.37}, {'connected_gene': 'GC05P010375', 'score': 0.44}, {'connected_gene': 'MARCH6', 'score': 0.39}]
chr5 GH05I010373 10373201 10373400 0.38 [{'connected_gene': 'GC05P010375', 'score': 550.77}, {'connected_gene': 'CMBL', 'score': 11.33}, {'connected_gene': 'ROPN1L', 'score': 10.75}, {'connected_gene': 'ROPN1L-AS1', 'score': 10.75}, {'connected_gene': 'MARCH6', 'score': 0.37}, {'connected_gene': 'GC05P010396', 'score': 0.34}]
chr5 GH05I010329 10329318 10332061 1.25 [{'connected_gene': 'PIR33262', 'score': 550.77}, {'connected_gene': 'MARCH6', 'score': 12.44}, {'connected_gene': 'CMBL', 'score': 12.0}, {'connected_gene': 'ROPN1L', 'score': 10.04}, {'connected_gene': 'ROPN1L-AS1', 'score': 10.04}, {'connected_gene': 'GC05P010338', 'score': 0.44}, {'connected_gene': 'LOC105374651', 'score': 0.39}]
chr5 GH05I010317 10317500 10319789 1.16 [{'connected_gene': 'GC05M010284', 'score': 550.77}, {'connected_gene': 'MARCH6', 'score': 15.9}, {'connected_gene': 'LOC105374651', 'score': 0.77}, {'connected_gene': 'PIR33262', 'score': 0.39}]
chr5 GH05I010364 10364409 10364538 0.65 [{'connected_gene': 'GC05P010366', 'score': 550.77}, {'connected_gene': 'GC05M010364', 'score': 550.77}, {'connected_gene': 'MARCH6', 'score': 0.39}, {'connected_gene': 'LOC101929977', 'score': 0.39}]
chr5 GH05I010452 10452369 10455529 1.03 [{'connected_gene': 'LINC01513', 'score': 12.72}, {'connected_gene': 'ANKRD33B-AS1', 'score': 12.65}, {'connected_gene': 'ANKRD33B', 'score': 11.78}, {'connected_gene': 'CMBL', 'score': 9.96}, {'connected_gene': 'MARCH6', 'score': 5.93}, {'connected_gene': 'FAM173B', 'score': 5.52}, {'connected_gene': 'LOC105369214', 'score': 0.44}, {'connected_gene': 'ROPN1L', 'score': 0.39}, {'connected_gene': 'ROPN1L-AS1', 'score': 0.39}]

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