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
ENST00000263713 [[120770580, 120770786], [120776652, 120776840], [120799581, 120799686], [120830753, 120830796], [120831675, 120831754], [120833051, 120833096], [120833276, 120833329], [120834546, 120834667], [120834804, 120834892], [120836068, 120836157], [120844746, 120844816], [120847922, 120848092], [120849130, 120849237], [120850824, 120850852], [120857819, 120857862], [120858274, 120858390], [120885263, 120885427], [120889193, 120889291], [120900578, 120900707], [120903800, 120903865], [120918456, 120918550], [120922411, 120922486], [120925041, 120925083], [120925452, 120925583], [120932416, 120936695]] [[120776660, 120776840], [120799581, 120799686], [120830753, 120830796], [120831675, 120831754], [120833051, 120833096], [120833276, 120833329], [120834546, 120834667], [120834804, 120834892], [120836068, 120836157], [120844746, 120844816], [120847922, 120848092], [120849130, 120849237], [120850824, 120850852], [120857819, 120857862], [120858274, 120858390], [120885263, 120885427], [120889193, 120889291], [120900578, 120900707], [120903800, 120903865], [120918456, 120918550], [120922411, 120922486], [120925041, 120925083], [120925452, 120925583], [120932416, 120932483]]
ENST00000443902 [[120770652, 120770786], [120776652, 120776840], [120799581, 120799686], [120830753, 120830796], [120831675, 120831754], [120833051, 120833096], [120833276, 120833329], [120834546, 120834667], [120834804, 120834892], [120836068, 120836157], [120844746, 120844816], [120847922, 120848092], [120849130, 120849237], [120850824, 120850852], [120857819, 120857862], [120858274, 120858390], [120885263, 120885427], [120889193, 120889291], [120900578, 120900707], [120903800, 120903865], [120918456, 120918550], [120922411, 120922486], [120925041, 120925083], [120932416, 120933437]] [[120776660, 120776840], [120799581, 120799686], [120830753, 120830796], [120831675, 120831754], [120833051, 120833096], [120833276, 120833329], [120834546, 120834667], [120834804, 120834892], [120836068, 120836157], [120844746, 120844816], [120847922, 120848092], [120849130, 120849237], [120850824, 120850852], [120857819, 120857862], [120858274, 120858390], [120885263, 120885427], [120889193, 120889291], [120900578, 120900707], [120903800, 120903865], [120918456, 120918550], [120922411, 120922486], [120925041, 120925083], [120932416, 120932476]]
ENST00000331393 [[120770694, 120770786], [120776652, 120776840], [120799581, 120799686], [120830753, 120830796], [120831675, 120831754], [120833051, 120833096], [120833276, 120833329], [120834546, 120834667], [120834804, 120834892], [120836068, 120836157], [120844746, 120844816], [120847922, 120848092], [120849130, 120849237], [120850824, 120850852], [120857819, 120857862], [120858274, 120858390], [120861635, 120861975]] [[120776660, 120776840], [120799581, 120799686], [120830753, 120830796], [120831675, 120831754], [120833051, 120833096], [120833276, 120833329], [120834546, 120834667], [120834804, 120834892], [120836068, 120836157], [120844746, 120844816], [120847922, 120848092], [120849130, 120849237], [120850824, 120850852], [120857819, 120857862], [120858274, 120858390], [120861635, 120861816]]
ENST00000443124 [[120770786, 120771257], [120776652, 120776840], [120799581, 120799686], [120830753, 120830796], [120831675, 120831754], [120833051, 120833096], [120833276, 120833329], [120834546, 120834667], [120834804, 120834892], [120836068, 120836157], [120844746, 120844816], [120847922, 120848092], [120849130, 120849237], [120850824, 120850852], [120857819, 120857862], [120858274, 120858390], [120861635, 120862691]] [[120776660, 120776840], [120799581, 120799686], [120830753, 120830796], [120831675, 120831754], [120833051, 120833096], [120833276, 120833329], [120834546, 120834667], [120834804, 120834892], [120836068, 120836157], [120844746, 120844816], [120847922, 120848092], [120849130, 120849237], [120850824, 120850852], [120857819, 120857862], [120858274, 120858390], [120861635, 120861816]]
ENST00000452780 [[120776660, 120776840], [120799581, 120799686], [120830753, 120830796], [120831675, 120831754], [120833051, 120833096], [120833276, 120833329], [120834546, 120834667], [120834804, 120834892], [120836068, 120836157], [120844746, 120844816], [120847922, 120848092], [120849130, 120849237], [120850824, 120850852], [120857819, 120857862], [120858274, 120858390], [120885263, 120885427], [120889193, 120889291], [120900578, 120900707], [120903800, 120903865], [120918456, 120918550], [120922411, 120922486], [120925041, 120925083], [120925455, 120925583], [120932416, 120936694]] [[120776660, 120776840], [120799581, 120799686], [120830753, 120830796], [120831675, 120831754], [120833051, 120833096], [120833276, 120833329], [120834546, 120834667], [120834804, 120834892], [120836068, 120836157], [120844746, 120844816], [120847922, 120848092], [120849130, 120849237], [120850824, 120850852], [120857819, 120857862], [120858274, 120858390], [120885263, 120885427], [120889193, 120889291], [120900578, 120900707], [120903800, 120903865], [120918456, 120918550], [120922411, 120922486], [120925041, 120925083], [120925455, 120925583], [120932416, 120932483]]
ENST00000489017 [[120848058, 120848092], [120849130, 120849237], [120850824, 120850852], [120857819, 120857862], [120858274, 120858390], [120859164, 120859203]] None
ENST00000466241 [[120776723, 120776840], [120799581, 120799686], [120830753, 120830796], [120831675, 120831976]] None
ENST00000461128 [[120849207, 120849237], [120850824, 120850852], [120857819, 120857862], [120858274, 120858390], [120885263, 120885668]] None
ENST00000495030 [[120858285, 120858390], [120861635, 120861664], [120865739, 120866049]] None
ENST00000488691 [[120918142, 120918550], [120922411, 120922486], [120925041, 120925083], [120925452, 120925536]] None
NM_001184939 [[120770603, 120770786], [120776652, 120776840], [120799581, 120799686], [120830753, 120830796], [120831675, 120831754], [120833051, 120833096], [120833276, 120833329], [120834546, 120834667], [120834804, 120834892], [120836068, 120836157], [120844746, 120844816], [120847922, 120848092], [120849130, 120849237], [120850824, 120850852], [120857819, 120857862], [120858274, 120858390], [120861635, 120866052]] [[120776660, 120776840], [120799581, 120799686], [120830753, 120830796], [120831675, 120831754], [120833051, 120833096], [120833276, 120833329], [120834546, 120834667], [120834804, 120834892], [120836068, 120836157], [120844746, 120844816], [120847922, 120848092], [120849130, 120849237], [120850824, 120850852], [120857819, 120857862], [120858274, 120858390], [120861635, 120861816]]
NR_135920 [[120770603, 120770786], [120776652, 120776840], [120799581, 120799686], [120830753, 120830796], [120831675, 120831754], [120833051, 120833096], [120833276, 120833329], [120834546, 120834667], [120834804, 120834892], [120836068, 120836157], [120844746, 120844816], [120847922, 120848092], [120849130, 120849237], [120850824, 120850852], [120857819, 120857862], [120858274, 120858390], [120859164, 120859267], [120861635, 120866052]] None
NR_138472 [[120770603, 120770786], [120776652, 120776840], [120799581, 120799686], [120830753, 120830796], [120831675, 120831754], [120833051, 120833096], [120833276, 120833329], [120834546, 120834667], [120834804, 120834892], [120836068, 120836157], [120844746, 120844816], [120847922, 120848092], [120849130, 120849237], [120850824, 120850852], [120857819, 120857862], [120858274, 120858390], [120859164, 120859295], [120861635, 120866052]] None
NM_001330307 [[120770603, 120770786], [120776652, 120776844], [120799581, 120799686], [120830753, 120830796], [120831675, 120831754], [120833051, 120833096], [120833276, 120833329], [120834546, 120834667], [120834804, 120834892], [120836068, 120836157], [120844746, 120844816], [120847922, 120848092], [120849130, 120849237], [120850824, 120850852], [120857819, 120857862], [120858274, 120858390], [120861635, 120866052]] [[120799617, 120799686], [120830753, 120830796], [120831675, 120831754], [120833051, 120833096], [120833276, 120833329], [120834546, 120834667], [120834804, 120834892], [120836068, 120836157], [120844746, 120844816], [120847922, 120848092], [120849130, 120849237], [120850824, 120850852], [120857819, 120857862], [120858274, 120858390], [120861635, 120861816]]
NM_001184937 [[120770603, 120770786], [120776652, 120776840], [120799581, 120799686], [120830753, 120830796], [120831675, 120831754], [120833051, 120833096], [120833276, 120833329], [120834546, 120834667], [120834804, 120834892], [120836068, 120836157], [120844746, 120844816], [120847922, 120848092], [120849130, 120849237], [120850824, 120850852], [120857819, 120857862], [120858274, 120858390], [120885263, 120885427], [120889193, 120889291], [120900578, 120900707], [120903800, 120903865], [120918456, 120918550], [120922411, 120922486], [120925041, 120925083], [120932416, 120936697]] [[120776660, 120776840], [120799581, 120799686], [120830753, 120830796], [120831675, 120831754], [120833051, 120833096], [120833276, 120833329], [120834546, 120834667], [120834804, 120834892], [120836068, 120836157], [120844746, 120844816], [120847922, 120848092], [120849130, 120849237], [120850824, 120850852], [120857819, 120857862], [120858274, 120858390], [120885263, 120885427], [120889193, 120889291], [120900578, 120900707], [120903800, 120903865], [120918456, 120918550], [120922411, 120922486], [120925041, 120925083], [120932416, 120932476]]
NM_001330310 [[120770603, 120770786], [120776652, 120776840], [120799581, 120799686], [120830753, 120830796], [120831675, 120831754], [120833051, 120833096], [120833276, 120833329], [120834546, 120834667], [120834804, 120834892], [120836068, 120836157], [120844746, 120844816], [120847922, 120848092], [120849130, 120849237], [120850824, 120850852], [120857819, 120857862], [120858274, 120858390], [120885263, 120885427], [120889193, 120889291], [120900578, 120900707], [120903800, 120903865], [120918456, 120918550], [120922411, 120922486], [120925041, 120925083], [120925455, 120925583], [120932416, 120936697]] [[120776660, 120776840], [120799581, 120799686], [120830753, 120830796], [120831675, 120831754], [120833051, 120833096], [120833276, 120833329], [120834546, 120834667], [120834804, 120834892], [120836068, 120836157], [120844746, 120844816], [120847922, 120848092], [120849130, 120849237], [120850824, 120850852], [120857819, 120857862], [120858274, 120858390], [120885263, 120885427], [120889193, 120889291], [120900578, 120900707], [120903800, 120903865], [120918456, 120918550], [120922411, 120922486], [120925041, 120925083], [120925455, 120925583], [120932416, 120932483]]
NM_020909 [[120770603, 120770786], [120776652, 120776840], [120799581, 120799686], [120830753, 120830796], [120831675, 120831754], [120833051, 120833096], [120833276, 120833329], [120834546, 120834667], [120834804, 120834892], [120836068, 120836157], [120844746, 120844816], [120847922, 120848092], [120849130, 120849237], [120850824, 120850852], [120857819, 120857862], [120858274, 120858390], [120885263, 120885427], [120889193, 120889291], [120900578, 120900707], [120903800, 120903865], [120918456, 120918550], [120922411, 120922486], [120925041, 120925083], [120925452, 120925583], [120932416, 120936697]] [[120776660, 120776840], [120799581, 120799686], [120830753, 120830796], [120831675, 120831754], [120833051, 120833096], [120833276, 120833329], [120834546, 120834667], [120834804, 120834892], [120836068, 120836157], [120844746, 120844816], [120847922, 120848092], [120849130, 120849237], [120850824, 120850852], [120857819, 120857862], [120858274, 120858390], [120885263, 120885427], [120889193, 120889291], [120900578, 120900707], [120903800, 120903865], [120918456, 120918550], [120922411, 120922486], [120925041, 120925083], [120925452, 120925583], [120932416, 120932483]]
NM_001184938 [[120770784, 120771257], [120776652, 120776840], [120799581, 120799686], [120830753, 120830796], [120831675, 120831754], [120833051, 120833096], [120833276, 120833329], [120834546, 120834667], [120834804, 120834892], [120836068, 120836157], [120844746, 120844816], [120847922, 120848092], [120849130, 120849237], [120850824, 120850852], [120857819, 120857862], [120858274, 120858390], [120861635, 120866052]] [[120776660, 120776840], [120799581, 120799686], [120830753, 120830796], [120831675, 120831754], [120833051, 120833096], [120833276, 120833329], [120834546, 120834667], [120834804, 120834892], [120836068, 120836157], [120844746, 120844816], [120847922, 120848092], [120849130, 120849237], [120850824, 120850852], [120857819, 120857862], [120858274, 120858390], [120861635, 120861816]]
Promoter
Chrom Start End Description
chr2 120770607 120770608 CAGE_peak_4_at_EPB41L5_5end
chr2 120770645 120770669 CAGE_peak_1_at_EPB41L5_5end
chr2 120770686 120770696 CAGE_peak_2_at_EPB41L5_5end
chr2 120834071 120834076 CAGE_peak_3_at_EPB41L5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I120109 120109201 120110199 0.65 [{'connected_gene': 'TMEM185B', 'score': 7.47}, {'connected_gene': 'LOC105373582', 'score': 0.21}, {'connected_gene': 'EPB41L5', 'score': 0.15}]
chr2 GH02I120237 120237361 120240805 1.5 [{'connected_gene': 'RALB', 'score': 565.73}, {'connected_gene': 'ENSG00000224789', 'score': 11.6}, {'connected_gene': 'EPB41L5', 'score': 4.42}, {'connected_gene': 'LOC105373583', 'score': 0.44}, {'connected_gene': 'TMEM185B', 'score': 0.37}]
chr2 GH02I119820 119820200 119820601 0.76 [{'connected_gene': 'PTPN4', 'score': 12.03}, {'connected_gene': 'EPB41L5', 'score': 11.28}, {'connected_gene': 'TMEM177', 'score': 9.08}, {'connected_gene': 'LOC101927764', 'score': 0.22}, {'connected_gene': 'GC02P119982', 'score': 0.1}]
chr2 GH02I119791 119791572 119796130 0.56 [{'connected_gene': 'PTPN4', 'score': 11.63}, {'connected_gene': 'EPB41L5', 'score': 9.66}, {'connected_gene': 'LOC101927764', 'score': 0.29}, {'connected_gene': 'GC02P119982', 'score': 0.09}]
chr2 GH02I119828 119828235 119828450 0.34 [{'connected_gene': 'PTPN4', 'score': 14.6}, {'connected_gene': 'EPB41L5', 'score': 11.28}, {'connected_gene': 'LOC101927764', 'score': 0.2}, {'connected_gene': 'GC02P119982', 'score': 0.1}]
chr2 GH02I119927 119927106 119930913 0.2 [{'connected_gene': 'EPB41L5', 'score': 10.03}, {'connected_gene': 'TMEM177', 'score': 4.81}, {'connected_gene': 'GC02P119982', 'score': 0.23}, {'connected_gene': 'LOC101927764', 'score': 0.1}, {'connected_gene': 'PTPN4', 'score': 0.1}]
chr2 GH02I120011 120011634 120014855 2.02 [{'connected_gene': 'EPB41L5', 'score': 561.66}, {'connected_gene': 'TMEM185B', 'score': 7.55}, {'connected_gene': 'C2orf76', 'score': 4.39}, {'connected_gene': 'LOC105373582', 'score': 0.1}]
chr2 GH02I120066 120066403 120068626 0.96 [{'connected_gene': 'EPB41L5', 'score': 9.35}, {'connected_gene': 'TMEM185B', 'score': 4.88}, {'connected_gene': 'LOC105373582', 'score': 0.14}]
chr2 GH02I120133 120133331 120135023 0.94 [{'connected_gene': 'EPB41L5', 'score': 9.07}, {'connected_gene': 'TMEM185B', 'score': 8.1}, {'connected_gene': 'LOC105373582', 'score': 0.28}]
chr2 GH02I120131 120131845 120133082 0.59 [{'connected_gene': 'EPB41L5', 'score': 8.7}, {'connected_gene': 'TMEM185B', 'score': 7.49}, {'connected_gene': 'LOC105373582', 'score': 0.26}]
chr2 GH02I120030 120030365 120030514 0.49 [{'connected_gene': 'EPB41L5', 'score': 0.37}, {'connected_gene': 'LOC105373582', 'score': 0.11}]
chr2 GH02I120148 120148347 120148470 0.25 [{'connected_gene': 'EPB41L5', 'score': 2.23}, {'connected_gene': 'LOC105373582', 'score': 0.31}]
chr2 GH02I119888 119888328 119889214 0.38 [{'connected_gene': 'EPB41L5', 'score': 16.47}, {'connected_gene': 'GC02P119982', 'score': 0.16}, {'connected_gene': 'LOC101927764', 'score': 0.13}, {'connected_gene': 'PTPN4', 'score': 0.13}]
chr2 GH02I119753 119753485 119753594 0.64 [{'connected_gene': 'EPB41L5', 'score': 8.67}, {'connected_gene': 'LOC101927764', 'score': 0.44}, {'connected_gene': 'PTPN4', 'score': 0.44}, {'connected_gene': 'PIR60099', 'score': 0.34}]
chr2 GH02I119265 119265285 119265434 0.69 [{'connected_gene': 'STEAP3', 'score': 11.49}, {'connected_gene': 'EPB41L5', 'score': 11.03}, {'connected_gene': 'LOC105373581', 'score': 0.44}, {'connected_gene': 'STEAP3-AS1', 'score': 0.37}]
chr2 GH02I119541 119541404 119552176 2.19 [{'connected_gene': 'CFAP221', 'score': 550.77}, {'connected_gene': 'SCTR', 'score': 15.14}, {'connected_gene': 'TMEM185B', 'score': 10.18}, {'connected_gene': 'TMEM177', 'score': 5.17}, {'connected_gene': 'EPB41L5', 'score': 4.5}]
chr2 GH02I120176 120175575 120178569 0.97 [{'connected_gene': 'LOC105373582', 'score': 0.77}, {'connected_gene': 'GC02P120193', 'score': 0.37}, {'connected_gene': 'ENSG00000224789', 'score': 0.28}, {'connected_gene': 'EPB41L5', 'score': 0.1}]
chr2 GH02I120107 120107803 120108615 0.78 [{'connected_gene': 'LOC105373582', 'score': 0.2}, {'connected_gene': 'EPB41L5', 'score': 0.15}]
chr2 GH02I120175 120175105 120175294 0.65 [{'connected_gene': 'LOC105373582', 'score': 550.77}, {'connected_gene': 'GC02P120193', 'score': 0.37}, {'connected_gene': 'ENSG00000224789', 'score': 0.26}, {'connected_gene': 'EPB41L5', 'score': 0.1}]
chr2 GH02I120110 120110601 120111200 0.52 [{'connected_gene': 'LOC105373582', 'score': 0.21}, {'connected_gene': 'EPB41L5', 'score': 0.15}]
chr2 GH02I119758 119758607 119763302 2.11 [{'connected_gene': 'LOC101927764', 'score': 550.77}, {'connected_gene': 'PTPN4', 'score': 550.77}, {'connected_gene': 'EPB41L5', 'score': 8.86}, {'connected_gene': 'GC02P119982', 'score': 0.07}]
chr2 GH02I120103 120103121 120105122 0.31 [{'connected_gene': 'ENSG00000224789', 'score': 10.35}, {'connected_gene': 'TMEM185B', 'score': 7.81}, {'connected_gene': 'LOC105373582', 'score': 0.2}, {'connected_gene': 'EPB41L5', 'score': 0.16}]

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