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
ENST00000326799 [[27399382, 27401049], [27403449, 27403536], [27404988, 27405062], [27405147, 27405274], [27406504, 27406656], [27408222, 27408378], [27409363, 27409476], [27410314, 27410377], [27411769, 27411902], [27412475, 27412628], [27415624, 27415715], [27420787, 27420870], [27422967, 27423051], [27423759, 27423910], [27425204, 27425314], [27431315, 27431414], [27434356, 27434519], [27436426, 27436597], [27437834, 27437969], [27443106, 27443288]] [[27400905, 27401049], [27403449, 27403536], [27404988, 27405062], [27405147, 27405274], [27406504, 27406656], [27408222, 27408378], [27409363, 27409476], [27410314, 27410377], [27411769, 27411902], [27412475, 27412628], [27415624, 27415715], [27420787, 27420870], [27422967, 27423051], [27423759, 27423910], [27425204, 27425314], [27431315, 27431414], [27434356, 27434519], [27436426, 27436597], [27437834, 27437969], [27443106, 27443139]]
ENST00000376016 [[27399382, 27401049], [27403449, 27403536], [27404988, 27405062], [27405147, 27405274], [27406504, 27406656], [27408222, 27408378], [27409363, 27409476], [27410314, 27410377], [27411769, 27411902], [27412475, 27412628], [27415624, 27415715], [27420787, 27420870], [27422967, 27423051], [27423759, 27423910], [27425204, 27425314], [27431315, 27431414], [27434356, 27434519], [27437834, 27437969], [27443106, 27443321]] [[27400905, 27401049], [27403449, 27403536], [27404988, 27405062], [27405147, 27405274], [27406504, 27406656], [27408222, 27408378], [27409363, 27409476], [27410314, 27410377], [27411769, 27411902], [27412475, 27412628], [27415624, 27415715], [27420787, 27420870], [27422967, 27423051], [27423759, 27423910], [27425204, 27425314], [27431315, 27431414], [27434356, 27434519], [27437834, 27437969], [27443106, 27443139]]
ENST00000375972 [[27400662, 27401049], [27403449, 27403536], [27404988, 27405062], [27405147, 27405274], [27406504, 27406656], [27408222, 27408378], [27409363, 27409476], [27410314, 27410377], [27411769, 27411902], [27412475, 27412628], [27415624, 27415715], [27420787, 27420870], [27422967, 27423051], [27423759, 27423910], [27425204, 27425314], [27434356, 27434519], [27437834, 27437969], [27443106, 27443313]] [[27400905, 27401049], [27403449, 27403536], [27404988, 27405062], [27405147, 27405274], [27406504, 27406656], [27408222, 27408378], [27409363, 27409476], [27410314, 27410377], [27411769, 27411902], [27412475, 27412628], [27415624, 27415715], [27420787, 27420870], [27422967, 27423051], [27423759, 27423910], [27425204, 27425314], [27434356, 27434519], [27437834, 27437969], [27443106, 27443139]]
ENST00000463270 [[27412475, 27412628], [27415624, 27415715], [27418165, 27418286], [27420787, 27420870], [27422967, 27423051], [27423759, 27423910], [27425204, 27425266]] None
ENST00000491542 [[27412475, 27412628], [27415624, 27415715], [27420787, 27420870], [27422967, 27423051], [27423759, 27423910], [27437834, 27437969], [27443106, 27443321]] [[27412475, 27412628], [27415624, 27415715], [27420787, 27420870], [27422967, 27423051], [27423759, 27423910], [27437834, 27437969], [27443106, 27443139]]
ENST00000427324 [[27420787, 27420870], [27422967, 27423051], [27423759, 27423910], [27425204, 27425314], [27434356, 27434519], [27437834, 27437969], [27443106, 27443155]] [[27420787, 27420870], [27422967, 27423051], [27423759, 27423910], [27425204, 27425314], [27434356, 27434519], [27437834, 27437969], [27443106, 27443139]]
ENST00000396296 [[27422972, 27423051], [27423759, 27423910], [27425204, 27425314], [27431315, 27431414], [27434356, 27434519], [27437834, 27437969], [27442155, 27442210], [27443106, 27443300]] [[27422972, 27423051], [27423759, 27423910], [27425204, 27425314], [27431315, 27431414], [27434356, 27434519], [27437834, 27437969], [27442155, 27442164]]
ENST00000477432 [[27434347, 27436597], [27437834, 27437969], [27443106, 27444195]] [[27436354, 27436597], [27437834, 27437969], [27443106, 27443139]]
NM_139312 [[27399039, 27401049], [27403449, 27403536], [27404988, 27405062], [27405147, 27405274], [27406504, 27406656], [27408222, 27408378], [27409363, 27409476], [27410314, 27410377], [27411769, 27411902], [27412475, 27412628], [27415624, 27415715], [27420787, 27420870], [27422967, 27423051], [27423759, 27423910], [27425204, 27425314], [27431315, 27431414], [27434356, 27434519], [27436426, 27436597], [27437834, 27437969], [27443106, 27443349]] [[27400905, 27401049], [27403449, 27403536], [27404988, 27405062], [27405147, 27405274], [27406504, 27406656], [27408222, 27408378], [27409363, 27409476], [27410314, 27410377], [27411769, 27411902], [27412475, 27412628], [27415624, 27415715], [27420787, 27420870], [27422967, 27423051], [27423759, 27423910], [27425204, 27425314], [27431315, 27431414], [27434356, 27434519], [27436426, 27436597], [27437834, 27437969], [27443106, 27443139]]
NM_014263 [[27399039, 27401049], [27403449, 27403536], [27404988, 27405062], [27405147, 27405274], [27406504, 27406656], [27408222, 27408378], [27409363, 27409476], [27410314, 27410377], [27411769, 27411902], [27412475, 27412628], [27415624, 27415715], [27420787, 27420870], [27422967, 27423051], [27423759, 27423910], [27425204, 27425314], [27431315, 27431414], [27434356, 27434519], [27437834, 27437969], [27443106, 27443349]] [[27400905, 27401049], [27403449, 27403536], [27404988, 27405062], [27405147, 27405274], [27406504, 27406656], [27408222, 27408378], [27409363, 27409476], [27410314, 27410377], [27411769, 27411902], [27412475, 27412628], [27415624, 27415715], [27420787, 27420870], [27422967, 27423051], [27423759, 27423910], [27425204, 27425314], [27431315, 27431414], [27434356, 27434519], [27437834, 27437969], [27443106, 27443139]]
NM_001253866 [[27399039, 27401049], [27403449, 27403536], [27404988, 27405062], [27405147, 27405274], [27406504, 27406656], [27408222, 27408378], [27409363, 27409476], [27410314, 27410377], [27411769, 27411902], [27412475, 27412628], [27415624, 27415715], [27420787, 27420870], [27422967, 27423051], [27423759, 27423910], [27425204, 27425314], [27434356, 27434519], [27437834, 27437969], [27443106, 27443349]] [[27400905, 27401049], [27403449, 27403536], [27404988, 27405062], [27405147, 27405274], [27406504, 27406656], [27408222, 27408378], [27409363, 27409476], [27410314, 27410377], [27411769, 27411902], [27412475, 27412628], [27415624, 27415715], [27420787, 27420870], [27422967, 27423051], [27423759, 27423910], [27425204, 27425314], [27434356, 27434519], [27437834, 27437969], [27443106, 27443139]]
Promoter
Chrom Start End Description
chr10 27443266 27443288 CAGE_peak_2_at_YME1L1_5end
chr10 27443294 27443320 CAGE_peak_1_at_YME1L1_5end
chr10 27444072 27444081 CAGE_peak_9_at_YME1L1_5end
chr10 27444086 27444105 CAGE_peak_4_at_YME1L1_5end
chr10 27444113 27444140 CAGE_peak_3_at_YME1L1_5end
chr10 27444143 27444188 CAGE_peak_5_at_YME1L1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I027238 27238868 27244124 2.66 [{'connected_gene': 'ACBD5', 'score': 552.07}, {'connected_gene': 'ENSG00000262412', 'score': 550.77}, {'connected_gene': 'MASTL', 'score': 59.12}, {'connected_gene': 'YME1L1', 'score': 14.03}, {'connected_gene': 'ANKRD26', 'score': 10.66}, {'connected_gene': 'ABI1', 'score': 4.32}, {'connected_gene': 'RNU7-12P', 'score': 0.44}]
chr10 GH10I027143 27143832 27143981 0.31 [{'connected_gene': 'ACBD5', 'score': 10.48}, {'connected_gene': 'MASTL', 'score': 0.39}, {'connected_gene': 'YME1L1', 'score': 0.39}, {'connected_gene': 'ANKRD26', 'score': 0.26}]
chr10 GH10I027022 27022965 27024368 0.4 [{'connected_gene': 'MASTL', 'score': 35.79}, {'connected_gene': 'FAM238C', 'score': 14.03}, {'connected_gene': 'YME1L1', 'score': 10.09}, {'connected_gene': 'PIR38783', 'score': 0.37}, {'connected_gene': 'ANKRD26', 'score': 0.18}]
chr10 GH10I027225 27225171 27225691 0.4 [{'connected_gene': 'MASTL', 'score': 24.47}, {'connected_gene': 'YME1L1', 'score': 11.71}, {'connected_gene': 'GC10P027231', 'score': 0.44}, {'connected_gene': 'GC10P027215', 'score': 0.44}, {'connected_gene': 'ACBD5', 'score': 0.37}]
chr10 GH10I027227 27224012 27224161 0.54 [{'connected_gene': 'MASTL', 'score': 24.48}, {'connected_gene': 'YME1L1', 'score': 11.72}, {'connected_gene': 'GC10P027231', 'score': 0.44}, {'connected_gene': 'GC10P027215', 'score': 0.44}, {'connected_gene': 'ACBD5', 'score': 0.37}]
chr10 GH10I027234 27234035 27234754 0.79 [{'connected_gene': 'MASTL', 'score': 38.68}, {'connected_gene': 'YME1L1', 'score': 10.7}, {'connected_gene': 'FAM238B', 'score': 5.84}, {'connected_gene': 'GC10P027231', 'score': 0.77}, {'connected_gene': 'RNU7-12P', 'score': 0.77}, {'connected_gene': 'ACBD5', 'score': 0.44}]
chr10 GH10I026573 26573792 26573941 0.76 [{'connected_gene': 'MASTL', 'score': 13.49}, {'connected_gene': 'YME1L1', 'score': 11.46}, {'connected_gene': 'GC10M026570', 'score': 0.77}, {'connected_gene': 'GC10P026561', 'score': 0.39}, {'connected_gene': 'FAM238A', 'score': 0.37}]
chr10 GH10I027624 27624848 27626681 0.66 [{'connected_gene': 'MASTL', 'score': 11.22}, {'connected_gene': 'YME1L1', 'score': 10.23}, {'connected_gene': 'PTCHD3', 'score': 5.84}, {'connected_gene': 'ABI1', 'score': 4.38}, {'connected_gene': 'LOC105376463', 'score': 0.22}, {'connected_gene': 'GC10M027690', 'score': 0.2}]
chr10 GH10I027224 27224182 27224765 0.54 [{'connected_gene': 'MASTL', 'score': 54.83}, {'connected_gene': 'YME1L1', 'score': 11.72}, {'connected_gene': 'ANKRD26', 'score': 10.79}, {'connected_gene': 'GC10P027231', 'score': 0.44}, {'connected_gene': 'GC10P027215', 'score': 0.44}, {'connected_gene': 'ACBD5', 'score': 0.37}]
chr10 GH10I027152 27152361 27157602 2.3 [{'connected_gene': 'MASTL', 'score': 625.54}, {'connected_gene': 'YME1L1', 'score': 573.04}, {'connected_gene': 'ANKRD26', 'score': 19.9}, {'connected_gene': 'FAM238C', 'score': 13.18}, {'connected_gene': 'LRRC37A6P', 'score': 5.86}]
chr10 GH10I027657 27656932 27657081 0.82 [{'connected_gene': 'MASTL', 'score': 14.65}, {'connected_gene': 'YME1L1', 'score': 12.47}, {'connected_gene': 'WAC-AS1', 'score': 10.63}, {'connected_gene': 'GC10M027690', 'score': 0.29}, {'connected_gene': 'LOC105376463', 'score': 0.16}]
chr10 GH10I027656 27656692 27656841 0.84 [{'connected_gene': 'MASTL', 'score': 14.65}, {'connected_gene': 'YME1L1', 'score': 12.47}, {'connected_gene': 'WAC-AS1', 'score': 10.63}, {'connected_gene': 'GC10M027690', 'score': 0.29}, {'connected_gene': 'LOC105376463', 'score': 0.17}]
chr10 GH10I026479 26479202 26490122 1.58 [{'connected_gene': 'APBB1IP', 'score': 18.23}, {'connected_gene': 'YME1L1', 'score': 9.66}, {'connected_gene': 'ABI1', 'score': 6.17}, {'connected_gene': 'PDSS1', 'score': 1.99}, {'connected_gene': 'GC10M026472', 'score': 0.44}, {'connected_gene': 'RNA5SP307', 'score': 0.34}]
chr10 GH10I027072 27072552 27072721 0.46 [{'connected_gene': 'FAM238C', 'score': 16.81}, {'connected_gene': 'MASTL', 'score': 10.55}, {'connected_gene': 'YME1L1', 'score': 10.55}, {'connected_gene': 'GC10M027089', 'score': 0.37}, {'connected_gene': 'GC10P027057', 'score': 0.37}, {'connected_gene': 'RNU6-490P', 'score': 0.37}, {'connected_gene': 'ANKRD26', 'score': 0.31}]
chr10 GH10I027502 27502758 27506488 2.08 [{'connected_gene': 'RAB18', 'score': 550.77}, {'connected_gene': 'MASTL', 'score': 18.87}, {'connected_gene': 'YME1L1', 'score': 10.13}, {'connected_gene': 'GC10P027522', 'score': 0.37}]
chr10 GH10I027099 27099355 27101563 2.02 [{'connected_gene': 'ANKRD26', 'score': 564.14}, {'connected_gene': 'MASTL', 'score': 57.77}, {'connected_gene': 'FAM238C', 'score': 11.75}, {'connected_gene': 'YME1L1', 'score': 10.59}, {'connected_gene': 'GC10M027087', 'score': 0.77}]
chr10 GH10I027291 27291201 27292000 0.2 [{'connected_gene': 'ARMC4P1', 'score': 13.39}, {'connected_gene': 'RNU7-12P', 'score': 12.12}, {'connected_gene': 'RNU6-452P', 'score': 12.06}, {'connected_gene': 'ACBD5', 'score': 11.45}, {'connected_gene': 'MASTL', 'score': 10.11}, {'connected_gene': 'YME1L1', 'score': 10.11}, {'connected_gene': 'LOC102724245', 'score': 0.37}, {'connected_gene': 'LRRC37A6P', 'score': 0.29}]
chr10 GH10I026856 26856715 26862150 2.57 [{'connected_gene': 'ABI1', 'score': 566.04}, {'connected_gene': 'MASTL', 'score': 17.91}, {'connected_gene': 'RNU6-946P', 'score': 11.7}, {'connected_gene': 'ENSG00000223027', 'score': 11.68}, {'connected_gene': 'PDSS1', 'score': 2.23}, {'connected_gene': 'ACBD5', 'score': 1.82}, {'connected_gene': 'APBB1IP', 'score': 1.18}, {'connected_gene': 'YME1L1', 'score': 1.17}, {'connected_gene': 'GC10P026852', 'score': 0.44}]
chr10 GH10I026755 26755401 26756341 1.26 [{'connected_gene': 'GC10P026755', 'score': 550.77}, {'connected_gene': 'ABI1', 'score': 11.47}, {'connected_gene': 'MASTL', 'score': 10.49}, {'connected_gene': 'YME1L1', 'score': 10.36}, {'connected_gene': 'ENSG00000223027', 'score': 0.29}]

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