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
ENST00000261592 [[31431063, 31432999], [31463207, 31463388], [31523028, 31523142], [31537289, 31537481], [31538202, 31538382], [31599281, 31599565], [31673428, 31673561], [31684010, 31684123], [31685012, 31685124], [31709834, 31709984], [31802953, 31803515]] [[31432805, 31432999], [31463207, 31463388], [31523028, 31523142], [31537289, 31537481], [31538202, 31538382], [31599281, 31599565], [31673428, 31673561], [31684010, 31684123], [31685012, 31685124], [31709834, 31709984], [31802953, 31803217]]
ENST00000269185 [[31431070, 31432999], [31463207, 31463388], [31538202, 31538382], [31599281, 31599565], [31673428, 31673561], [31684010, 31684123], [31685012, 31685124], [31709834, 31709984], [31802953, 31803446]] [[31432805, 31432999], [31463207, 31463388], [31538202, 31538382], [31599281, 31599565], [31673428, 31673561], [31684010, 31684123], [31685012, 31685124], [31709834, 31709906]]
ENST00000535384 [[31432253, 31432999], [31463207, 31463388], [31523028, 31523142], [31537289, 31537481], [31538202, 31538382], [31599281, 31599565], [31628402, 31628558]] [[31432805, 31432999], [31463207, 31463388], [31523028, 31523142], [31537289, 31537481], [31538202, 31538382], [31599281, 31599482]]
ENST00000586314 [[31432413, 31432999], [31463207, 31463388], [31523028, 31523142], [31538202, 31538382], [31599281, 31599565], [31673428, 31673561], [31684010, 31684123], [31685012, 31685124], [31708812, 31708853], [31709834, 31709984], [31801983, 31802282]] [[31708835, 31708853], [31709834, 31709984], [31801983, 31802025]]
ENST00000535475 [[31432413, 31432999], [31463207, 31463388], [31523028, 31523142], [31538202, 31538382], [31599281, 31599565], [31673428, 31673561], [31684010, 31684123], [31685012, 31685124], [31708812, 31708853], [31709834, 31709984], [31801983, 31802282]] [[31432805, 31432999], [31463207, 31463388], [31523028, 31523142], [31538202, 31538382], [31599281, 31599565], [31673428, 31673561], [31684010, 31684123], [31685012, 31685073]]
ENST00000589544 [[31432413, 31432999], [31463207, 31463388], [31538202, 31538382], [31599281, 31599565], [31673428, 31673561], [31684010, 31684123], [31685012, 31685124], [31709834, 31709984], [31802953, 31803435]] [[31432805, 31432999], [31463207, 31463388], [31538202, 31538382], [31599281, 31599565], [31673428, 31673561], [31684010, 31684123], [31685012, 31685124], [31709834, 31709984], [31802953, 31803217]]
ENST00000538587 [[31432552, 31432999], [31463207, 31463388], [31523028, 31523142], [31537289, 31537481], [31538202, 31538382], [31599281, 31599565], [31673428, 31673561], [31684010, 31684123], [31685012, 31685124], [31709834, 31709984], [31801983, 31802056]] [[31432805, 31432999], [31463207, 31463388], [31523028, 31523142], [31537289, 31537481], [31538202, 31538382], [31599281, 31599565], [31673428, 31673561], [31684010, 31684123], [31685012, 31685124], [31709834, 31709984], [31801983, 31802025]]
ENST00000590712 [[31432552, 31432999], [31463207, 31463388], [31523028, 31523142], [31538202, 31538382], [31599281, 31599565], [31673428, 31673561], [31684010, 31684123], [31685012, 31685124], [31709834, 31709984], [31802953, 31803169]] [[31432805, 31432999], [31463207, 31463388], [31523028, 31523142], [31538202, 31538382], [31599281, 31599565], [31673428, 31673561], [31684010, 31684123], [31685012, 31685124], [31709834, 31709984], [31802953, 31803169]]
ENST00000586553 [[31463328, 31463388], [31523028, 31523142], [31538202, 31538382], [31599281, 31599565], [31603403, 31603603]] [[31463328, 31463388], [31523028, 31523142], [31538202, 31538382], [31599281, 31599565], [31603403, 31603422]]
ENST00000588280 [[31673424, 31673561], [31684010, 31684123], [31685012, 31685124], [31709834, 31709984], [31736602, 31736657]] None
ENST00000591917 [[31684015, 31684123], [31685012, 31685124], [31701197, 31701280], [31709834, 31709984], [31801983, 31802074]] [[31701262, 31701280], [31709834, 31709984], [31801983, 31802025]]
ENST00000587971 [[31684017, 31684123], [31709834, 31709984], [31801983, 31802287]] None
ENST00000587953 [[31684087, 31684123], [31685012, 31685124], [31709834, 31709984], [31737024, 31737138], [31738549, 31738593]] None
ENST00000586309 [[31685088, 31685124], [31709834, 31709984], [31763481, 31763590], [31801983, 31802253]] [[31763557, 31763590], [31801983, 31802025]]
ENST00000590846 [[31803295, 31803344], [31803870, 31804178], [31804607, 31804916]] None
ENST00000588355 [[31803898, 31804181], [31804607, 31804874]] None
NM_001198549 [[31431063, 31432999], [31463207, 31463388], [31523028, 31523142], [31537289, 31537481], [31538202, 31538382], [31599281, 31599565], [31628402, 31628576]] [[31432805, 31432999], [31463207, 31463388], [31523028, 31523142], [31537289, 31537481], [31538202, 31538382], [31599281, 31599482]]
NM_001282527 [[31431063, 31432999], [31463207, 31463388], [31523028, 31523142], [31538202, 31538382], [31599281, 31599565], [31673428, 31673561], [31684010, 31684123], [31685012, 31685124], [31708812, 31708853], [31709834, 31709984], [31801983, 31802434]] [[31432805, 31432999], [31463207, 31463388], [31523028, 31523142], [31538202, 31538382], [31599281, 31599565], [31673428, 31673561], [31684010, 31684123], [31685012, 31685073]]
NM_001198547 [[31431063, 31432999], [31463207, 31463388], [31523028, 31523142], [31537289, 31537481], [31538202, 31538382], [31599281, 31599565], [31673428, 31673561], [31684010, 31684123], [31685012, 31685124], [31709834, 31709984], [31801983, 31802434]] [[31432805, 31432999], [31463207, 31463388], [31523028, 31523142], [31537289, 31537481], [31538202, 31538382], [31599281, 31599565], [31673428, 31673561], [31684010, 31684123], [31685012, 31685124], [31709834, 31709984], [31801983, 31802025]]
NM_003787 [[31431063, 31432999], [31463207, 31463388], [31523028, 31523142], [31537289, 31537481], [31538202, 31538382], [31599281, 31599565], [31673428, 31673561], [31684010, 31684123], [31685012, 31685124], [31709834, 31709984], [31802953, 31803515]] [[31432805, 31432999], [31463207, 31463388], [31523028, 31523142], [31537289, 31537481], [31538202, 31538382], [31599281, 31599565], [31673428, 31673561], [31684010, 31684123], [31685012, 31685124], [31709834, 31709984], [31802953, 31803217]]
NM_001198546 [[31431063, 31432999], [31463207, 31463388], [31523028, 31523142], [31538202, 31538382], [31599281, 31599565], [31673428, 31673561], [31684010, 31684123], [31685012, 31685124], [31709834, 31709984], [31802953, 31803515]] [[31432805, 31432999], [31463207, 31463388], [31523028, 31523142], [31538202, 31538382], [31599281, 31599565], [31673428, 31673561], [31684010, 31684123], [31685012, 31685124], [31709834, 31709984], [31802953, 31803217]]
NM_001198548 [[31431063, 31432999], [31463207, 31463388], [31538202, 31538382], [31599281, 31599565], [31673428, 31673561], [31684010, 31684123], [31685012, 31685124], [31709834, 31709984], [31802953, 31803515]] [[31432805, 31432999], [31463207, 31463388], [31538202, 31538382], [31599281, 31599565], [31673428, 31673561], [31684010, 31684123], [31685012, 31685124], [31709834, 31709984], [31802953, 31803217]]
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I034048 34048534 34048593 0.76 [{'connected_gene': 'NOL4', 'score': 550.1}, {'connected_gene': 'GC18M034002', 'score': 0.25}, {'connected_gene': 'ENSG00000199204', 'score': 0.25}, {'connected_gene': 'ENSG00000280406', 'score': 0.09}]
chr18 GH18I033880 33880489 33880864 0.22 [{'connected_gene': 'NOL4', 'score': 2.44}, {'connected_gene': 'GC18P033757', 'score': 0.13}, {'connected_gene': 'GC18M034002', 'score': 0.13}, {'connected_gene': 'ENSG00000199204', 'score': 0.13}]
chr18 GH18I034657 34657773 34662600 1.57 [{'connected_gene': 'DTNA', 'score': 11.74}, {'connected_gene': 'NOL4', 'score': 3.93}, {'connected_gene': 'MAPRE2', 'score': 3.59}, {'connected_gene': 'RPL10AP13', 'score': 0.17}, {'connected_gene': 'ENSG00000268873', 'score': 0.14}]
chr18 GH18I034706 34706912 34711789 2.53 [{'connected_gene': 'DTNA', 'score': 561.76}, {'connected_gene': 'MAPRE2', 'score': 1.21}, {'connected_gene': 'NOL4', 'score': 1.15}, {'connected_gene': 'ENSG00000268873', 'score': 0.22}, {'connected_gene': 'RPL10AP13', 'score': 0.12}]
chr18 GH18I034120 34120757 34122629 0.78 [{'connected_gene': 'ENSG00000280406', 'score': 0.15}, {'connected_gene': 'NOL4', 'score': 0.15}, {'connected_gene': 'GC18M034002', 'score': 0.13}, {'connected_gene': 'ENSG00000199204', 'score': 0.13}]
chr18 GH18I034117 34117497 34117646 0.8 [{'connected_gene': 'ENSG00000280406', 'score': 0.15}, {'connected_gene': 'NOL4', 'score': 0.14}, {'connected_gene': 'GC18M034002', 'score': 0.13}, {'connected_gene': 'ENSG00000199204', 'score': 0.13}]
chr18 GH18I034153 34153712 34154199 0.62 [{'connected_gene': 'ENSG00000280406', 'score': 0.2}, {'connected_gene': 'NOL4', 'score': 0.19}, {'connected_gene': 'GC18M034002', 'score': 0.1}, {'connected_gene': 'ENSG00000199204', 'score': 0.1}]
chr18 GH18I034158 34158954 34159938 1.02 [{'connected_gene': 'ENSG00000280406', 'score': 0.21}, {'connected_gene': 'NOL4', 'score': 0.2}, {'connected_gene': 'GC18M034002', 'score': 0.1}, {'connected_gene': 'ENSG00000199204', 'score': 0.1}]
chr18 GH18I034224 34224337 34225206 1.35 [{'connected_gene': 'ENSG00000267746', 'score': 550.77}, {'connected_gene': 'NOL4', 'score': 550.77}, {'connected_gene': 'ENSG00000278052', 'score': 550.77}]
chr18 GH18I034026 34025217 34025366 0.31 [{'connected_gene': 'GC18M034002', 'score': 0.34}, {'connected_gene': 'ENSG00000199204', 'score': 0.34}, {'connected_gene': 'NOL4', 'score': 0.08}, {'connected_gene': 'ENSG00000280406', 'score': 0.08}]
chr18 GH18I034025 34025419 34026515 0.43 [{'connected_gene': 'GC18M034002', 'score': 0.34}, {'connected_gene': 'ENSG00000199204', 'score': 0.34}, {'connected_gene': 'NOL4', 'score': 0.08}, {'connected_gene': 'ENSG00000280406', 'score': 0.08}]
chr18 GH18I034221 34221929 34223527 1.32 [{'connected_gene': 'ENSG00000267746', 'score': 550.77}, {'connected_gene': 'NOL4', 'score': 550.77}, {'connected_gene': 'ENSG00000280406', 'score': 550.77}]
chr18 GH18I034003 34003631 34004288 0.43 [{'connected_gene': 'GC18M034002', 'score': 0.77}, {'connected_gene': 'ENSG00000199204', 'score': 0.77}, {'connected_gene': 'ENSG00000280406', 'score': 0.08}, {'connected_gene': 'NOL4', 'score': 0.07}]

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