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
ENST00000566157 [[56485401, 56485678], [56487174, 56487320], [56492459, 56492506], [56496445, 56496546], [56500063, 56500180], [56500787, 56500879], [56501076, 56501205], [56501816, 56501930], [56503914, 56503994], [56504398, 56504703], [56508739, 56508862], [56509418, 56509477], [56509955, 56513012]] [[56485524, 56485678], [56487174, 56487320], [56492459, 56492506], [56496445, 56496546], [56500063, 56500180], [56500787, 56500879], [56501076, 56501205], [56501816, 56501930], [56503914, 56503994], [56504398, 56504703], [56508739, 56508862], [56509418, 56509477], [56509955, 56510117]]
ENST00000569802 [[56485432, 56485479], [56487174, 56487320], [56488685, 56488833], [56496445, 56496546], [56500063, 56500095]] [[56487185, 56487320], [56488685, 56488691]]
ENST00000562150 [[56485432, 56485672], [56487174, 56487320], [56492459, 56492506], [56496445, 56496546], [56500063, 56500115]] [[56485524, 56485672], [56487174, 56487320], [56492459, 56492506], [56496445, 56496546], [56500063, 56500115]]
ENST00000561646 [[56485432, 56485479], [56487174, 56487320], [56492459, 56492506], [56496445, 56496546], [56500063, 56500180], [56500787, 56500879], [56501076, 56501110]] [[56487185, 56487320], [56492459, 56492506], [56496445, 56496546], [56500063, 56500180], [56500787, 56500879], [56501076, 56501110]]
ENST00000565682 [[56485434, 56485678], [56487174, 56487320], [56492424, 56492506], [56496445, 56496540]] [[56485524, 56485678], [56487174, 56487320], [56492424, 56492454]]
ENST00000336111 [[56485435, 56485479], [56487174, 56487292], [56492459, 56492506], [56496445, 56496546], [56500063, 56500180], [56500787, 56500879], [56501076, 56501205], [56501816, 56501930], [56503914, 56503994], [56504398, 56504703], [56508739, 56508862], [56509418, 56509477], [56509955, 56511041]] [[56487185, 56487292], [56492459, 56492472]]
ENST00000563733 [[56485444, 56485678], [56487174, 56487320], [56492459, 56492813]] None
ENST00000568172 [[56485451, 56485678], [56487174, 56487320], [56492459, 56492506], [56500063, 56500180]] None
ENST00000568397 [[56485473, 56485678], [56487174, 56487320], [56492459, 56492506], [56496445, 56496546], [56500063, 56500180], [56500787, 56500879], [56501816, 56501930], [56503914, 56503994], [56504398, 56504703], [56508739, 56508862], [56509418, 56509477], [56509955, 56510247]] [[56485524, 56485678], [56487174, 56487320], [56492459, 56492506], [56496445, 56496546], [56500063, 56500180], [56500787, 56500879], [56501816, 56501930], [56503914, 56503994], [56504398, 56504703], [56508739, 56508862], [56509418, 56509477], [56509955, 56510117]]
ENST00000569645 [[56485467, 56485678], [56487174, 56487605]] None
ENST00000565209 [[56492040, 56492506], [56496445, 56496546], [56500063, 56500091]] None
NM_001324357 [[56485391, 56485678], [56487177, 56487320], [56492459, 56492506], [56496445, 56496546], [56500063, 56500180], [56500787, 56500879], [56501076, 56501205], [56501816, 56501930], [56503914, 56503994], [56504398, 56504703], [56508739, 56508862], [56509418, 56509477], [56509955, 56511407]] [[56485524, 56485678], [56487177, 56487320], [56492459, 56492506], [56496445, 56496546], [56500063, 56500180], [56500787, 56500879], [56501076, 56501205], [56501816, 56501930], [56503914, 56503994], [56504398, 56504703], [56508739, 56508862], [56509418, 56509477], [56509955, 56510117]]
NM_001324363 [[56485391, 56485678], [56487174, 56487320], [56492459, 56492506], [56496445, 56496546], [56500063, 56500180], [56500787, 56500879], [56501076, 56501205], [56503914, 56503994], [56504398, 56504703], [56508739, 56508862], [56509418, 56509477], [56509955, 56511407]] [[56485524, 56485678], [56487174, 56487320], [56492459, 56492506], [56496445, 56496546], [56500063, 56500180], [56500787, 56500879], [56501076, 56501205], [56503914, 56503994], [56504398, 56504703], [56508739, 56508862], [56509418, 56509477], [56509955, 56510117]]
NM_001324360 [[56485391, 56485678], [56487174, 56487320], [56492424, 56492506], [56496445, 56496546], [56500063, 56500180], [56500787, 56500879], [56501076, 56501205], [56501816, 56501930], [56503914, 56503994], [56504398, 56504703], [56508739, 56508862], [56509418, 56509477], [56509955, 56511407]] [[56492450, 56492506], [56496445, 56496546], [56500063, 56500180], [56500787, 56500879], [56501076, 56501205], [56501816, 56501930], [56503914, 56503994], [56504398, 56504703], [56508739, 56508862], [56509418, 56509477], [56509955, 56510117]]
NM_018233 [[56485423, 56485678], [56487174, 56487320], [56492459, 56492506], [56496445, 56496546], [56500063, 56500180], [56500787, 56500879], [56501076, 56501205], [56501816, 56501930], [56503914, 56503994], [56504398, 56504703], [56508739, 56508862], [56509418, 56509477], [56509955, 56511407]] [[56485524, 56485678], [56487174, 56487320], [56492459, 56492506], [56496445, 56496546], [56500063, 56500180], [56500787, 56500879], [56501076, 56501205], [56501816, 56501930], [56503914, 56503994], [56504398, 56504703], [56508739, 56508862], [56509418, 56509477], [56509955, 56510117]]
NM_001324362 [[56485435, 56485479], [56487174, 56487292], [56492459, 56492506], [56496445, 56496546], [56500063, 56500180], [56500787, 56500879], [56501076, 56501205], [56501816, 56501930], [56503914, 56503994], [56504398, 56504703], [56508739, 56508862], [56509418, 56509477], [56509955, 56511407]] [[56496518, 56496546], [56500063, 56500180], [56500787, 56500879], [56501076, 56501205], [56501816, 56501930], [56503914, 56503994], [56504398, 56504703], [56508739, 56508862], [56509418, 56509477], [56509955, 56510117]]
NM_001324361 [[56485435, 56485479], [56487174, 56487320], [56492459, 56492506], [56496445, 56496546], [56500063, 56500180], [56500787, 56500879], [56501076, 56501205], [56501816, 56501930], [56503914, 56503994], [56504398, 56504703], [56508739, 56508862], [56509418, 56509477], [56509955, 56511407]] [[56487185, 56487320], [56492459, 56492506], [56496445, 56496546], [56500063, 56500180], [56500787, 56500879], [56501076, 56501205], [56501816, 56501930], [56503914, 56503994], [56504398, 56504703], [56508739, 56508862], [56509418, 56509477], [56509955, 56510117]]
NM_001324359 [[56485435, 56485479], [56487174, 56487320], [56492424, 56492506], [56496445, 56496546], [56500063, 56500180], [56500787, 56500879], [56501076, 56501205], [56501816, 56501930], [56503914, 56503994], [56504398, 56504703], [56508739, 56508862], [56509418, 56509477], [56509955, 56511407]] [[56492450, 56492506], [56496445, 56496546], [56500063, 56500180], [56500787, 56500879], [56501076, 56501205], [56501816, 56501930], [56503914, 56503994], [56504398, 56504703], [56508739, 56508862], [56509418, 56509477], [56509955, 56510117]]
NM_001324358 [[56485995, 56486461], [56487174, 56487320], [56492459, 56492506], [56496445, 56496546], [56500063, 56500180], [56500787, 56500879], [56501076, 56501205], [56501816, 56501930], [56503914, 56503994], [56504398, 56504703], [56508739, 56508862], [56509418, 56509477], [56509955, 56511407]] [[56487185, 56487320], [56492459, 56492506], [56496445, 56496546], [56500063, 56500180], [56500787, 56500879], [56501076, 56501205], [56501816, 56501930], [56503914, 56503994], [56504398, 56504703], [56508739, 56508862], [56509418, 56509477], [56509955, 56510117]]
Promoter
Chrom Start End Description
chr16 56485425 56485490 CAGE_peak_1_at_OGFOD1_5end
chr16 56485491 56485500 CAGE_peak_2_at_OGFOD1_5end
chr16 56485508 56485513 CAGE_peak_3_at_OGFOD1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I056556 56556877 56559988 0.66 [{'connected_gene': 'BBS2', 'score': 16.71}, {'connected_gene': 'MT4', 'score': 13.17}, {'connected_gene': 'MT3', 'score': 11.9}, {'connected_gene': 'MT1G', 'score': 10.9}, {'connected_gene': 'MT1H', 'score': 10.89}, {'connected_gene': 'MT1F', 'score': 10.83}, {'connected_gene': 'MT1X', 'score': 10.62}, {'connected_gene': 'OGFOD1', 'score': 4.45}, {'connected_gene': 'GC16M056558', 'score': 0.44}]
chr16 GH16I056383 56382760 56383604 0.8 [{'connected_gene': 'BBS2', 'score': 36.16}, {'connected_gene': 'OGFOD1', 'score': 32.6}, {'connected_gene': 'RSPRY1', 'score': 12.88}, {'connected_gene': 'NUP93', 'score': 11.05}, {'connected_gene': 'NUDT21', 'score': 10.52}, {'connected_gene': 'MT4', 'score': 6.97}, {'connected_gene': 'GC16M056362', 'score': 0.37}, {'connected_gene': 'PIR40925', 'score': 0.37}, {'connected_gene': 'AMFR', 'score': 0.26}]
chr16 GH16I056518 56518089 56521014 2.15 [{'connected_gene': 'BBS2', 'score': 588.38}, {'connected_gene': 'OGFOD1', 'score': 19.88}, {'connected_gene': 'MT3', 'score': 11.27}, {'connected_gene': 'MT1G', 'score': 10.5}, {'connected_gene': 'MT1H', 'score': 10.49}, {'connected_gene': 'MT1A', 'score': 10.47}, {'connected_gene': 'NUDT21', 'score': 10.28}, {'connected_gene': 'MT4', 'score': 7.56}, {'connected_gene': 'ENSG00000274031', 'score': 0.23}]
chr16 GH16I056476 56476101 56477967 0.66 [{'connected_gene': 'BBS2', 'score': 38.89}, {'connected_gene': 'OGFOD1', 'score': 31.4}, {'connected_gene': 'NUDT21', 'score': 11.32}, {'connected_gene': 'MT4', 'score': 7.48}, {'connected_gene': 'ENSG00000274031', 'score': 0.39}]
chr16 GH16I056341 56341408 56342675 0.2 [{'connected_gene': 'BBS2', 'score': 19.85}, {'connected_gene': 'OGFOD1', 'score': 9.97}, {'connected_gene': 'NUDT21', 'score': 9.97}, {'connected_gene': 'ENSG00000272372', 'score': 0.39}, {'connected_gene': 'GC16M056301', 'score': 0.34}, {'connected_gene': 'GNAO1', 'score': 0.1}]
chr16 GH16I056539 56539544 56541368 0.89 [{'connected_gene': 'BBS2', 'score': 24.91}, {'connected_gene': 'MT3', 'score': 11.49}, {'connected_gene': 'MT1X', 'score': 10.54}, {'connected_gene': 'MT1A', 'score': 10.18}, {'connected_gene': 'MT1G', 'score': 9.99}, {'connected_gene': 'MT1H', 'score': 9.99}, {'connected_gene': 'MT1F', 'score': 9.85}, {'connected_gene': 'OGFOD1', 'score': 8.65}, {'connected_gene': 'MT4', 'score': 8.44}, {'connected_gene': 'NUDT21', 'score': 8.33}]
chr16 GH16I056525 56525018 56526207 0.31 [{'connected_gene': 'OGFOD1', 'score': 20.61}, {'connected_gene': 'MT4', 'score': 7.22}, {'connected_gene': 'BBS2', 'score': 0.44}]
chr16 GH16I056509 56509463 56511951 0.31 [{'connected_gene': 'OGFOD1', 'score': 30.19}, {'connected_gene': 'MT3', 'score': 11.25}, {'connected_gene': 'NUDT21', 'score': 10.57}, {'connected_gene': 'MT1G', 'score': 10.49}, {'connected_gene': 'MT1H', 'score': 10.49}, {'connected_gene': 'MT1A', 'score': 10.47}, {'connected_gene': 'MT1X', 'score': 10.36}, {'connected_gene': 'BBS2', 'score': 6.87}, {'connected_gene': 'ENSG00000274031', 'score': 0.26}]
chr16 GH16I056372 56372329 56372478 0.52 [{'connected_gene': 'OGFOD1', 'score': 22.85}, {'connected_gene': 'GC16M056362', 'score': 0.44}, {'connected_gene': 'PIR40925', 'score': 0.31}, {'connected_gene': 'AMFR', 'score': 0.23}]
chr16 GH16I056355 56355989 56358399 1.42 [{'connected_gene': 'OGFOD1', 'score': 21.94}, {'connected_gene': 'NUDT21', 'score': 10.13}, {'connected_gene': 'MT4', 'score': 4.5}, {'connected_gene': 'ENSG00000272372', 'score': 0.77}, {'connected_gene': 'GC16M056362', 'score': 0.44}, {'connected_gene': 'GNAO1', 'score': 0.1}]
chr16 GH16I056350 56350842 56352006 0.49 [{'connected_gene': 'OGFOD1', 'score': 9.98}, {'connected_gene': 'NUDT21', 'score': 9.98}, {'connected_gene': 'MT4', 'score': 6.39}, {'connected_gene': 'ENSG00000272372', 'score': 0.77}, {'connected_gene': 'GC16M056301', 'score': 0.29}, {'connected_gene': 'GNAO1', 'score': 0.1}]
chr16 GH16I056370 56370310 56371845 0.73 [{'connected_gene': 'OGFOD1', 'score': 31.6}, {'connected_gene': 'NUDT21', 'score': 9.95}, {'connected_gene': 'MT4', 'score': 6.79}, {'connected_gene': 'GC16M056362', 'score': 0.44}, {'connected_gene': 'PIR40925', 'score': 0.29}, {'connected_gene': 'AMFR', 'score': 0.23}]
chr16 GH16I056475 56475349 56475498 0.38 [{'connected_gene': 'OGFOD1', 'score': 11.32}, {'connected_gene': 'NUDT21', 'score': 11.32}, {'connected_gene': 'ENSG00000274031', 'score': 0.44}, {'connected_gene': 'BBS2', 'score': 0.26}]
chr16 GH16I056344 56344149 56344298 0.76 [{'connected_gene': 'OGFOD1', 'score': 9.97}, {'connected_gene': 'NUDT21', 'score': 9.97}, {'connected_gene': 'ENSG00000272372', 'score': 0.44}, {'connected_gene': 'GC16M056301', 'score': 0.31}, {'connected_gene': 'GNAO1', 'score': 0.1}]
chr16 GH16I056346 56346444 56350610 0.43 [{'connected_gene': 'OGFOD1', 'score': 16.87}, {'connected_gene': 'NUDT21', 'score': 9.98}, {'connected_gene': 'AMFR', 'score': 7.47}, {'connected_gene': 'MT4', 'score': 7.39}, {'connected_gene': 'BBS2', 'score': 5.14}, {'connected_gene': 'ENSG00000272372', 'score': 0.77}, {'connected_gene': 'GC16M056301', 'score': 0.29}, {'connected_gene': 'GNAO1', 'score': 0.1}]
chr16 GH16I056382 56382619 56382738 0.73 [{'connected_gene': 'OGFOD1', 'score': 10.52}, {'connected_gene': 'NUDT21', 'score': 10.52}, {'connected_gene': 'PIR40925', 'score': 0.37}, {'connected_gene': 'GC16M056362', 'score': 0.37}, {'connected_gene': 'AMFR', 'score': 0.26}]
chr16 GH16I056388 56388689 56390649 0.43 [{'connected_gene': 'OGFOD1', 'score': 10.16}, {'connected_gene': 'NUDT21', 'score': 10.16}, {'connected_gene': 'PIR40925', 'score': 0.39}, {'connected_gene': 'GC16M056362', 'score': 0.31}, {'connected_gene': 'AMFR', 'score': 0.28}]
chr16 GH16I056419 56419389 56419538 0.43 [{'connected_gene': 'OGFOD1', 'score': 11.69}, {'connected_gene': 'NUDT21', 'score': 11.69}, {'connected_gene': 'GC16M056424', 'score': 0.77}, {'connected_gene': 'PIR43832', 'score': 0.77}, {'connected_gene': 'PIR52158', 'score': 0.44}, {'connected_gene': 'AMFR', 'score': 0.44}]
chr16 GH16I056359 56359681 56361212 0.43 [{'connected_gene': 'OGFOD1', 'score': 34.91}, {'connected_gene': 'NUDT21', 'score': 10.13}, {'connected_gene': 'GC16M056362', 'score': 0.77}, {'connected_gene': 'ENSG00000272372', 'score': 0.44}]
chr16 GH16I056514 56514009 56514178 0.89 [{'connected_gene': 'MT3', 'score': 11.26}, {'connected_gene': 'MT1G', 'score': 10.49}, {'connected_gene': 'MT1H', 'score': 10.49}, {'connected_gene': 'MT1A', 'score': 10.47}, {'connected_gene': 'OGFOD1', 'score': 10.29}, {'connected_gene': 'NUDT21', 'score': 10.29}, {'connected_gene': 'BBS2', 'score': 0.44}, {'connected_gene': 'ENSG00000274031', 'score': 0.25}]
chr16 GH16I056516 56516148 56516335 0.57 [{'connected_gene': 'MT3', 'score': 27.63}, {'connected_gene': 'GNAO1', 'score': 12.35}, {'connected_gene': 'MT1G', 'score': 10.49}, {'connected_gene': 'MT1H', 'score': 10.49}, {'connected_gene': 'MT1A', 'score': 10.47}, {'connected_gene': 'OGFOD1', 'score': 10.29}, {'connected_gene': 'NUDT21', 'score': 10.29}, {'connected_gene': 'BBS2', 'score': 8.38}, {'connected_gene': 'MT1M', 'score': 1.45}, {'connected_gene': 'ENSG00000274031', 'score': 0.23}]
chr16 GH16I056345 56344771 56345528 0.91 [{'connected_gene': 'MMP2', 'score': 10.4}, {'connected_gene': 'OGFOD1', 'score': 9.97}, {'connected_gene': 'NUDT21', 'score': 9.97}, {'connected_gene': 'ENSG00000272372', 'score': 0.44}, {'connected_gene': 'GC16M056301', 'score': 0.31}, {'connected_gene': 'GNAO1', 'score': 0.1}]
chr16 GH16I056450 56450019 56453010 2.04 [{'connected_gene': 'NUDT21', 'score': 584.31}, {'connected_gene': 'OGFOD1', 'score': 572.68}, {'connected_gene': 'BBS2', 'score': 38.85}, {'connected_gene': 'RSPRY1', 'score': 19.54}, {'connected_gene': 'NUP93', 'score': 18.44}, {'connected_gene': 'MT4', 'score': 7.01}]
chr16 GH16I056480 56480688 56482489 0.72 [{'connected_gene': 'NUDT21', 'score': 11.33}, {'connected_gene': 'OGFOD1', 'score': 11.31}, {'connected_gene': 'ENSG00000272372', 'score': 10.97}, {'connected_gene': 'LOC283856', 'score': 10.45}, {'connected_gene': 'MT4', 'score': 7.49}, {'connected_gene': 'ENSG00000274031', 'score': 0.37}, {'connected_gene': 'BBS2', 'score': 0.28}]
chr16 GH16I056353 56353289 56353438 0.66 [{'connected_gene': 'ENSG00000272372', 'score': 550.77}, {'connected_gene': 'OGFOD1', 'score': 10.13}, {'connected_gene': 'NUDT21', 'score': 10.13}, {'connected_gene': 'AMFR', 'score': 6.21}, {'connected_gene': 'GC16M056301', 'score': 0.28}, {'connected_gene': 'GNAO1', 'score': 0.1}]
chr16 GH16I056407 56407195 56410174 0.77 [{'connected_gene': 'PIR52158', 'score': 550.77}, {'connected_gene': 'ENSG00000260621', 'score': 550.77}, {'connected_gene': 'OGFOD1', 'score': 35.03}, {'connected_gene': 'NUDT21', 'score': 11.56}, {'connected_gene': 'PIR40925', 'score': 0.44}, {'connected_gene': 'AMFR', 'score': 0.37}]
chr16 GH16I056420 56420550 56426808 1.97 [{'connected_gene': 'PIR36581', 'score': 550.77}, {'connected_gene': 'GC16M056424', 'score': 550.77}, {'connected_gene': 'PIR43832', 'score': 550.77}, {'connected_gene': 'AMFR', 'score': 550.77}, {'connected_gene': 'BBS2', 'score': 37.31}, {'connected_gene': 'OGFOD1', 'score': 22.12}, {'connected_gene': 'LOC105371286', 'score': 13.14}, {'connected_gene': 'MT4', 'score': 6.99}, {'connected_gene': 'PIR52158', 'score': 0.39}]

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