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
ENST00000485046 [[11994261, 11994380], [12008032, 12008124], [12009829, 12009963], [12010413, 12010577], [12012679, 12012792], [12014886, 12014950], [12016973, 12017071], [12017898, 12018000], [12018572, 12018677]] None
ENST00000449038 [[11994750, 11994912], [12004578, 12004719], [12008032, 12008124], [12009829, 12009963], [12010413, 12010577], [12012679, 12012748]] [[11994836, 11994912], [12004578, 12004719], [12008032, 12008124], [12009829, 12009963], [12010413, 12010577], [12012679, 12012748]]
ENST00000358133 [[11994790, 11994912], [12008032, 12008124], [12009829, 12009963], [12010413, 12010577], [12012679, 12012792], [12014630, 12014824]] None
ENST00000376369 [[11994791, 11994912], [12004578, 12004719], [12008032, 12008124], [12009829, 12009963], [12010413, 12010577], [12012679, 12012792], [12014886, 12014950], [12016973, 12017071], [12017898, 12018000], [12018572, 12018704], [12020702, 12020824], [12023588, 12023693], [12024231, 12024357], [12024700, 12024842], [12025536, 12025650], [12026307, 12026373], [12027043, 12027148], [12030726, 12030873], [12032928, 12033054], [12034709, 12035150]] [[11994836, 11994912], [12004578, 12004719], [12008032, 12008124], [12009829, 12009963], [12010413, 12010577], [12012679, 12012792], [12014886, 12014950], [12016973, 12017071], [12017898, 12018000], [12018572, 12018704], [12020702, 12020824], [12023588, 12023693], [12024231, 12024357], [12024700, 12024842], [12025536, 12025650], [12026307, 12026373], [12027043, 12027148], [12030726, 12030873], [12032928, 12033054], [12034709, 12034865]]
ENST00000429000 [[11994799, 11994912], [12008032, 12008124], [12009829, 12009963], [12010413, 12010577], [12012679, 12012792], [12014886, 12014950], [12017146, 12017250], [12017898, 12018000]] [[11994836, 11994912], [12008032, 12008124], [12009829, 12009963], [12010413, 12010577], [12012679, 12012792], [12014886, 12014950], [12017146, 12017250], [12017898, 12018000]]
ENST00000196061 [[11994809, 11994912], [12008032, 12008124], [12009829, 12009963], [12010413, 12010577], [12012679, 12012792], [12014886, 12014950], [12016973, 12017071], [12017898, 12018000], [12018572, 12018704], [12020702, 12020824], [12023588, 12023693], [12024231, 12024357], [12024700, 12024842], [12025536, 12025650], [12026307, 12026373], [12027043, 12027148], [12030726, 12030873], [12032928, 12033054], [12034709, 12035594]] [[11994836, 11994912], [12008032, 12008124], [12009829, 12009963], [12010413, 12010577], [12012679, 12012792], [12014886, 12014950], [12016973, 12017071], [12017898, 12018000], [12018572, 12018704], [12020702, 12020824], [12023588, 12023693], [12024231, 12024357], [12024700, 12024842], [12025536, 12025650], [12026307, 12026373], [12027043, 12027148], [12030726, 12030873], [12032928, 12033054], [12034709, 12034865]]
ENST00000465920 [[12014357, 12014950], [12016973, 12017071], [12017898, 12018000], [12018572, 12018650]] None
ENST00000491536 [[12024744, 12024842], [12025536, 12025650], [12026307, 12026373], [12027043, 12027148], [12035339, 12035595]] None
ENST00000470133 [[12024758, 12024842], [12025536, 12025650], [12026307, 12026471]] None
ENST00000481933 [[12031599, 12033054], [12034709, 12035593]] None
NM_000302 [[11994723, 11994912], [12008032, 12008124], [12009829, 12009963], [12010413, 12010577], [12012679, 12012792], [12014886, 12014950], [12016973, 12017071], [12017898, 12018000], [12018572, 12018704], [12020702, 12020824], [12023588, 12023693], [12024231, 12024357], [12024700, 12024842], [12025536, 12025650], [12026307, 12026373], [12027043, 12027148], [12030726, 12030873], [12032928, 12033054], [12034709, 12035599]] [[11994836, 11994912], [12008032, 12008124], [12009829, 12009963], [12010413, 12010577], [12012679, 12012792], [12014886, 12014950], [12016973, 12017071], [12017898, 12018000], [12018572, 12018704], [12020702, 12020824], [12023588, 12023693], [12024231, 12024357], [12024700, 12024842], [12025536, 12025650], [12026307, 12026373], [12027043, 12027148], [12030726, 12030873], [12032928, 12033054], [12034709, 12034865]]
NM_001316320 [[11994723, 11994912], [12004578, 12004719], [12008032, 12008124], [12009829, 12009963], [12010413, 12010577], [12012679, 12012792], [12014886, 12014950], [12016973, 12017071], [12017898, 12018000], [12018572, 12018704], [12020702, 12020824], [12023588, 12023693], [12024231, 12024357], [12024700, 12024842], [12025536, 12025650], [12026307, 12026373], [12027043, 12027148], [12030726, 12030873], [12032928, 12033054], [12034709, 12035599]] [[11994836, 11994912], [12004578, 12004719], [12008032, 12008124], [12009829, 12009963], [12010413, 12010577], [12012679, 12012792], [12014886, 12014950], [12016973, 12017071], [12017898, 12018000], [12018572, 12018704], [12020702, 12020824], [12023588, 12023693], [12024231, 12024357], [12024700, 12024842], [12025536, 12025650], [12026307, 12026373], [12027043, 12027148], [12030726, 12030873], [12032928, 12033054], [12034709, 12034865]]
Promoter
Chrom Start End Description
chr1 11994715 11994833 CAGE_peak_1_at_PLOD1_5end
chr1 12024282 12024306 CAGE_peak_2_at_PLOD1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I012033 12031616 12033052 0.57 [{'connected_gene': 'MFN2', 'score': 12.3}, {'connected_gene': 'TNFRSF8', 'score': 11.99}, {'connected_gene': 'KIAA2013', 'score': 11.3}, {'connected_gene': 'PLOD1', 'score': 11.04}, {'connected_gene': 'RN7SL649P', 'score': 0.77}, {'connected_gene': 'MIR6729', 'score': 0.77}, {'connected_gene': 'MIIP', 'score': 0.39}]
chr1 GH01I011989 11989433 11991585 1.2 [{'connected_gene': 'MFN2', 'score': 72.86}, {'connected_gene': 'MIIP', 'score': 13.14}, {'connected_gene': 'PLOD1', 'score': 11.4}, {'connected_gene': 'KIAA2013', 'score': 11.29}, {'connected_gene': 'RNU5E-4P', 'score': 11.23}, {'connected_gene': 'RNU5E-1', 'score': 11.23}, {'connected_gene': 'NPPB', 'score': 3.73}, {'connected_gene': 'NPPA', 'score': 1.86}, {'connected_gene': 'ENSG00000270914', 'score': 0.31}]
chr1 GH01I011991 11991906 11993095 0.46 [{'connected_gene': 'MFN2', 'score': 69.4}, {'connected_gene': 'MIIP', 'score': 13.14}, {'connected_gene': 'PLOD1', 'score': 11.4}, {'connected_gene': 'KIAA2013', 'score': 11.29}, {'connected_gene': 'RNU5E-4P', 'score': 11.23}, {'connected_gene': 'RNU5E-1', 'score': 11.23}, {'connected_gene': 'ENSG00000270914', 'score': 0.34}]
chr1 GH01I011918 11918587 11919870 0.77 [{'connected_gene': 'MFN2', 'score': 18.28}, {'connected_gene': 'MIIP', 'score': 10.94}, {'connected_gene': 'NPPB', 'score': 10.82}, {'connected_gene': 'PLOD1', 'score': 5.66}, {'connected_gene': 'PIR39464', 'score': 0.44}, {'connected_gene': 'KIAA2013', 'score': 0.44}]
chr1 GH01I011978 11978437 11987026 2.78 [{'connected_gene': 'MFN2', 'score': 620.69}, {'connected_gene': 'ENSG00000226849', 'score': 21.95}, {'connected_gene': 'EXOSC10', 'score': 18.43}, {'connected_gene': 'MIIP', 'score': 18.04}, {'connected_gene': 'TNFRSF1B', 'score': 16.91}, {'connected_gene': 'PLOD1', 'score': 16.62}, {'connected_gene': 'CLCN6', 'score': 15.24}, {'connected_gene': 'TARDBP', 'score': 13.01}, {'connected_gene': 'KIAA2013', 'score': 11.56}, {'connected_gene': 'RNU5E-4P', 'score': 11.25}, {'connected_gene': 'RNU5E-1', 'score': 11.25}, {'connected_gene': 'NPPB', 'score': 10.29}, {'connected_gene': 'MTHFR', 'score': 7.41}, {'connected_gene': 'TNFRSF8', 'score': 6.4}, {'connected_gene': 'AGTRAP', 'score': 5.2}, {'connected_gene': 'FBXO6', 'score': 3.22}, {'connected_gene': 'ENSG00000270914', 'score': 0.29}]
chr1 GH01I011977 11977724 11977873 0.66 [{'connected_gene': 'MFN2', 'score': 25.58}, {'connected_gene': 'PLOD1', 'score': 0.26}]
chr1 GH01I011966 11966971 11967573 1.04 [{'connected_gene': 'MFN2', 'score': 23.42}, {'connected_gene': 'PLOD1', 'score': 0.29}]
chr1 GH01I012003 12003685 12006498 1.14 [{'connected_gene': 'MFN2', 'score': 50.17}, {'connected_gene': 'PLOD1', 'score': 4.62}, {'connected_gene': 'ENSG00000270914', 'score': 0.39}]
chr1 GH01I011968 11968013 11968597 0.2 [{'connected_gene': 'MFN2', 'score': 20.67}, {'connected_gene': 'PLOD1', 'score': 0.29}]
chr1 GH01I012001 12001293 12002493 0.91 [{'connected_gene': 'MFN2', 'score': 56.26}, {'connected_gene': 'PLOD1', 'score': 5.06}, {'connected_gene': 'ENSG00000270914', 'score': 0.37}]
chr1 GH01I011960 11960674 11962013 1.18 [{'connected_gene': 'MFN2', 'score': 18.67}, {'connected_gene': 'PLOD1', 'score': 8.67}]
chr1 GH01I012032 12031504 12031533 0.59 [{'connected_gene': 'TNFRSF8', 'score': 11.85}, {'connected_gene': 'MFN2', 'score': 11.78}, {'connected_gene': 'KIAA2013', 'score': 11.3}, {'connected_gene': 'PLOD1', 'score': 10.81}, {'connected_gene': 'MIR6729', 'score': 0.77}, {'connected_gene': 'RN7SL649P', 'score': 0.44}, {'connected_gene': 'MIIP', 'score': 0.39}]
chr1 GH01I012031 12031384 12031493 0.62 [{'connected_gene': 'TNFRSF8', 'score': 11.85}, {'connected_gene': 'MFN2', 'score': 11.78}, {'connected_gene': 'KIAA2013', 'score': 11.3}, {'connected_gene': 'PLOD1', 'score': 10.81}, {'connected_gene': 'MIR6729', 'score': 0.77}, {'connected_gene': 'RN7SL649P', 'score': 0.44}, {'connected_gene': 'MIIP', 'score': 0.39}]
chr1 GH01I011924 11924377 11929016 2.44 [{'connected_gene': 'KIAA2013', 'score': 550.77}, {'connected_gene': 'MFN2', 'score': 19.99}, {'connected_gene': 'CLCN6', 'score': 10.77}, {'connected_gene': 'FBXO44', 'score': 10.31}, {'connected_gene': 'PLOD1', 'score': 8.39}, {'connected_gene': 'NPPA-AS1', 'score': 7.23}]
chr1 GH01I011930 11929077 11929341 0.51 [{'connected_gene': 'KIAA2013', 'score': 0.77}, {'connected_gene': 'PLOD1', 'score': 0.77}]
chr1 GH01I012018 12018670 12021069 2.04 [{'connected_gene': 'MIIP', 'score': 550.77}, {'connected_gene': 'UBIAD1', 'score': 27.44}, {'connected_gene': 'TNFRSF8', 'score': 12.1}, {'connected_gene': 'RNU6-777P', 'score': 11.37}, {'connected_gene': 'RPL23AP89', 'score': 11.36}, {'connected_gene': 'PLOD1', 'score': 10.86}, {'connected_gene': 'KIAA2013', 'score': 10.68}, {'connected_gene': 'LINC01647', 'score': 6.21}, {'connected_gene': 'NPPA-AS1', 'score': 5.03}, {'connected_gene': 'ENSG00000202461', 'score': 0.77}]
chr1 GH01I011885 11885471 11889433 1.03 [{'connected_gene': 'PLOD1', 'score': 23.57}, {'connected_gene': 'MFN2', 'score': 21.79}, {'connected_gene': 'MIIP', 'score': 15.8}, {'connected_gene': 'NPPB', 'score': 12.05}, {'connected_gene': 'KIAA2013', 'score': 12.0}, {'connected_gene': 'NPPA-AS1', 'score': 9.46}, {'connected_gene': 'LOC390997', 'score': 0.44}, {'connected_gene': 'RNU5E-1', 'score': 0.34}]
chr1 GH01I011952 11952804 11952953 0.58 [{'connected_gene': 'PLOD1', 'score': 19.02}, {'connected_gene': 'MFN2', 'score': 0.31}]
chr1 GH01I011942 11942093 11942825 0.49 [{'connected_gene': 'PLOD1', 'score': 5.02}, {'connected_gene': 'MFN2', 'score': 0.28}]
chr1 GH01I011956 11956753 11957943 0.56 [{'connected_gene': 'PLOD1', 'score': 9.16}, {'connected_gene': 'MFN2', 'score': 0.34}]
chr1 GH01I011949 11949204 11949353 0.65 [{'connected_gene': 'PLOD1', 'score': 0.37}, {'connected_gene': 'MFN2', 'score': 0.29}]
chr1 GH01I011940 11940604 11940853 1 [{'connected_gene': 'PLOD1', 'score': 6.99}, {'connected_gene': 'MFN2', 'score': 0.28}]
chr1 GH01I011938 11938312 11939592 1.09 [{'connected_gene': 'PLOD1', 'score': 8.51}, {'connected_gene': 'MFN2', 'score': 0.26}]
chr1 GH01I011937 11937002 11937711 0.2 [{'connected_gene': 'PLOD1', 'score': 8.51}, {'connected_gene': 'MFN2', 'score': 0.26}]
chr1 GH01I012599 12599955 12605518 1.49 [{'connected_gene': 'PLOD1', 'score': 4.89}, {'connected_gene': 'DHRS3', 'score': 0.37}, {'connected_gene': 'MIR6730', 'score': 0.34}]
chr1 GH01I011879 11879965 11884055 1.83 [{'connected_gene': 'PLOD1', 'score': 18.36}, {'connected_gene': 'KIAA2013', 'score': 15.37}, {'connected_gene': 'NPPB', 'score': 13.97}, {'connected_gene': 'RNU5E-4P', 'score': 12.3}, {'connected_gene': 'RNU5E-1', 'score': 12.3}, {'connected_gene': 'NPPA-AS1', 'score': 10.84}, {'connected_gene': 'LOC102724659', 'score': 10.21}, {'connected_gene': 'C1orf167', 'score': 10.19}, {'connected_gene': 'LOC390997', 'score': 5.84}, {'connected_gene': 'ENSG00000226849', 'score': 4.4}, {'connected_gene': 'MFN2', 'score': 3.37}]
chr1 GH01I011929 11929546 11931945 1.58 [{'connected_gene': 'PLOD1', 'score': 8.77}, {'connected_gene': 'KIAA2013', 'score': 0.77}]
chr1 GH01I011920 11920519 11921584 0.49 [{'connected_gene': 'PLOD1', 'score': 6.03}, {'connected_gene': 'PIR39464', 'score': 0.44}, {'connected_gene': 'KIAA2013', 'score': 0.44}]
chr1 GH01I011933 11933468 11935601 2.22 [{'connected_gene': 'PLOD1', 'score': 550.77}, {'connected_gene': 'ENSG00000226849', 'score': 13.84}, {'connected_gene': 'TARDBP', 'score': 13.02}, {'connected_gene': 'MFN2', 'score': 11.23}, {'connected_gene': 'MIIP', 'score': 6.51}, {'connected_gene': 'MTHFR', 'score': 4.29}]
chr1 GH01I011935 11935723 11936512 0.38 [{'connected_gene': 'PLOD1', 'score': 556.52}, {'connected_gene': 'NPPA-AS1', 'score': 5.88}, {'connected_gene': 'MFN2', 'score': 0.26}]
chr1 GH01I011872 11872160 11875814 0.56 [{'connected_gene': 'RNU5E-1', 'score': 12.16}, {'connected_gene': 'RNU5E-4P', 'score': 12.14}, {'connected_gene': 'NPPA-AS1', 'score': 12.1}, {'connected_gene': 'MFN2', 'score': 11.04}, {'connected_gene': 'PLOD1', 'score': 11.0}, {'connected_gene': 'KIAA2013', 'score': 10.8}, {'connected_gene': 'LOC102724659', 'score': 10.55}, {'connected_gene': 'C1orf167', 'score': 10.53}, {'connected_gene': 'MTHFR', 'score': 9.63}, {'connected_gene': 'LOC390997', 'score': 7.46}, {'connected_gene': 'CLCN6', 'score': 5.19}, {'connected_gene': 'NPPB', 'score': 0.37}]
chr1 GH01I011907 11907231 11910363 2.15 [{'connected_gene': 'RNU5E-4P', 'score': 550.77}, {'connected_gene': 'RNU5E-1', 'score': 550.77}, {'connected_gene': 'TARDBP', 'score': 57.49}, {'connected_gene': 'UBIAD1', 'score': 53.62}, {'connected_gene': 'ENSG00000226849', 'score': 41.84}, {'connected_gene': 'CLCN6', 'score': 16.17}, {'connected_gene': 'VPS13D', 'score': 12.6}, {'connected_gene': 'SNORA59A', 'score': 12.39}, {'connected_gene': 'MFN2', 'score': 10.93}, {'connected_gene': 'EXOSC10', 'score': 10.87}, {'connected_gene': 'DHRS3', 'score': 10.44}, {'connected_gene': 'ENSG00000271895', 'score': 10.01}, {'connected_gene': 'NPPA-AS1', 'score': 9.43}, {'connected_gene': 'PLOD1', 'score': 8.05}, {'connected_gene': 'KIAA2013', 'score': 7.32}, {'connected_gene': 'MTHFR', 'score': 1.73}, {'connected_gene': 'MIIP', 'score': 1.3}]
chr1 GH01I011813 11813672 11816065 0.92 [{'connected_gene': 'NPPA-AS1', 'score': 22.01}, {'connected_gene': 'CLCN6', 'score': 19.08}, {'connected_gene': 'NPPB', 'score': 11.04}, {'connected_gene': 'PLOD1', 'score': 10.65}, {'connected_gene': 'KIAA2013', 'score': 10.5}, {'connected_gene': 'MTHFR', 'score': 8.83}]
chr1 GH01I011943 11943511 11945453 1.13 [{'connected_gene': 'ENSG00000226849', 'score': 47.69}, {'connected_gene': 'EXOSC10', 'score': 45.33}, {'connected_gene': 'TARDBP', 'score': 40.35}, {'connected_gene': 'MTHFR', 'score': 19.99}, {'connected_gene': 'MFN2', 'score': 15.66}, {'connected_gene': 'VPS13D', 'score': 10.73}, {'connected_gene': 'MTOR', 'score': 10.64}, {'connected_gene': 'UBIAD1', 'score': 9.84}, {'connected_gene': 'ENSG00000271895', 'score': 9.75}, {'connected_gene': 'PLOD1', 'score': 7.64}]

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