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
ENST00000401432 [[25264998, 25265188], [25314193, 25314270], [25315871, 25315999], [25326505, 25326656], [25344541, 25344663], [25351051, 25351201], [25352843, 25352978], [25353420, 25353499], [25354236, 25354372], [25354618, 25354780], [25355771, 25355883], [25356251, 25356303], [25358335, 25358508], [25359391, 25359467], [25360209, 25360371], [25361927, 25362059], [25364234, 25364302], [25366603, 25366731], [25367828, 25370757]] [[25265181, 25265188], [25314193, 25314270], [25315871, 25315999], [25326505, 25326656], [25344541, 25344663], [25351051, 25351201], [25352843, 25352978], [25353420, 25353499], [25354236, 25354372], [25354618, 25354780], [25355771, 25355883], [25356251, 25356303], [25358335, 25358508], [25359391, 25359467], [25360209, 25360371], [25361927, 25362059], [25364234, 25364302], [25366603, 25366731], [25367828, 25367965]]
ENST00000403714 [[25264998, 25265188], [25314193, 25314270], [25315871, 25315999], [25326505, 25326656], [25344541, 25344663], [25351051, 25351201], [25352843, 25352978], [25353420, 25353499], [25354236, 25354372], [25354618, 25354780], [25355771, 25355883], [25356251, 25356303], [25358335, 25358508], [25359391, 25359467], [25360209, 25360371], [25361927, 25362059], [25364234, 25364302], [25366603, 25366731], [25367828, 25367920], [25372562, 25372611], [25374782, 25374889], [25376580, 25376630], [25377103, 25378243]] [[25265181, 25265188], [25314193, 25314270], [25315871, 25315999], [25326505, 25326656], [25344541, 25344663], [25351051, 25351201], [25352843, 25352978], [25353420, 25353499], [25354236, 25354372], [25354618, 25354780], [25355771, 25355883], [25356251, 25356303], [25358335, 25358508], [25359391, 25359467], [25360209, 25360371], [25361927, 25362059], [25364234, 25364302], [25366603, 25366731], [25367828, 25367920], [25372562, 25372611], [25374782, 25374889], [25376580, 25376630], [25377103, 25377209]]
ENST00000402191 [[25265331, 25265535], [25314193, 25314270], [25315871, 25315999], [25326505, 25326656], [25344541, 25344663], [25351051, 25351201], [25352843, 25352978], [25353420, 25353499], [25354236, 25354372], [25354618, 25354780], [25355771, 25355883], [25356251, 25356303], [25358335, 25358508], [25359391, 25359467], [25360209, 25360371], [25361927, 25362059], [25364234, 25364302], [25366603, 25366731], [25367828, 25367920], [25372562, 25372611], [25374782, 25374889], [25376580, 25376630], [25377103, 25378243]] [[25315892, 25315999], [25326505, 25326656], [25344541, 25344663], [25351051, 25351201], [25352843, 25352978], [25353420, 25353499], [25354236, 25354372], [25354618, 25354780], [25355771, 25355883], [25356251, 25356303], [25358335, 25358508], [25359391, 25359467], [25360209, 25360371], [25361927, 25362059], [25364234, 25364302], [25366603, 25366731], [25367828, 25367920], [25372562, 25372611], [25374782, 25374889], [25376580, 25376630], [25377103, 25377209]]
ENST00000405108 [[25338856, 25338972], [25344541, 25344663], [25351051, 25351201], [25352843, 25352978], [25353420, 25353499], [25354236, 25354372], [25354618, 25354780], [25355771, 25355883], [25356251, 25356303], [25358335, 25358508], [25359391, 25359467], [25360209, 25360371], [25361927, 25362059], [25364234, 25364302], [25366603, 25366731], [25367828, 25367920], [25372562, 25372611], [25374782, 25374889], [25376580, 25376630], [25377103, 25377434]] [[25344622, 25344663], [25351051, 25351201], [25352843, 25352978], [25353420, 25353499], [25354236, 25354372], [25354618, 25354780], [25355771, 25355883], [25356251, 25356303], [25358335, 25358508], [25359391, 25359467], [25360209, 25360371], [25361927, 25362059], [25364234, 25364302], [25366603, 25366731], [25367828, 25367920], [25372562, 25372611], [25374782, 25374889], [25376580, 25376630], [25377103, 25377209]]
ENST00000264719 [[25344541, 25344663], [25351051, 25351201], [25352843, 25352978], [25353420, 25353499], [25354236, 25354372], [25354618, 25354780], [25355771, 25355883], [25356251, 25356303], [25358335, 25358508], [25359391, 25359467], [25360209, 25360371], [25364234, 25364302], [25366603, 25366731], [25367828, 25367920], [25372562, 25372611], [25374782, 25374889], [25376580, 25376630], [25377103, 25377230]] [[25344541, 25344663], [25351051, 25351201], [25352843, 25352978], [25353420, 25353499], [25354236, 25354372], [25354618, 25354780], [25355771, 25355883], [25356251, 25356303], [25358335, 25358508], [25359391, 25359467], [25360209, 25360371], [25364234, 25364302], [25366603, 25366731], [25367828, 25367920], [25372562, 25372611], [25374782, 25374889], [25376580, 25376630], [25377103, 25377209]]
NM_014971 [[25264972, 25265188], [25314193, 25314270], [25315871, 25315999], [25326505, 25326656], [25344541, 25344663], [25351051, 25351201], [25352843, 25352978], [25353420, 25353499], [25354236, 25354372], [25354618, 25354780], [25355771, 25355883], [25356251, 25356303], [25358335, 25358508], [25359391, 25359467], [25360209, 25360371], [25361927, 25362059], [25364234, 25364302], [25366603, 25366731], [25367828, 25367920], [25372562, 25372611], [25374782, 25374889], [25376580, 25376630], [25377103, 25382004]] [[25265181, 25265188], [25314193, 25314270], [25315871, 25315999], [25326505, 25326656], [25344541, 25344663], [25351051, 25351201], [25352843, 25352978], [25353420, 25353499], [25354236, 25354372], [25354618, 25354780], [25355771, 25355883], [25356251, 25356303], [25358335, 25358508], [25359391, 25359467], [25360209, 25360371], [25361927, 25362059], [25364234, 25364302], [25366603, 25366731], [25367828, 25367920], [25372562, 25372611], [25374782, 25374889], [25376580, 25376630], [25377103, 25377209]]
NM_001319099 [[25265331, 25265535], [25314193, 25314270], [25315871, 25315999], [25326505, 25326656], [25344541, 25344663], [25351051, 25351201], [25352843, 25352978], [25353420, 25353499], [25354236, 25354372], [25354618, 25354780], [25355771, 25355883], [25356251, 25356303], [25358335, 25358508], [25359391, 25359467], [25360209, 25360371], [25361927, 25362059], [25364234, 25364302], [25366603, 25366731], [25367828, 25367920], [25372562, 25372611], [25374782, 25374889], [25376580, 25376630], [25377103, 25382004]] [[25315892, 25315999], [25326505, 25326656], [25344541, 25344663], [25351051, 25351201], [25352843, 25352978], [25353420, 25353499], [25354236, 25354372], [25354618, 25354780], [25355771, 25355883], [25356251, 25356303], [25358335, 25358508], [25359391, 25359467], [25360209, 25360371], [25361927, 25362059], [25364234, 25364302], [25366603, 25366731], [25367828, 25367920], [25372562, 25372611], [25374782, 25374889], [25376580, 25376630], [25377103, 25377209]]
Promoter
Chrom Start End Description
chr2 25264933 25264987 CAGE_peak_1_at_EFR3B_5end
chr2 25265076 25265087 CAGE_peak_4_at_EFR3B_5end
chr2 25265125 25265145 CAGE_peak_2_at_EFR3B_5end
chr2 25265147 25265166 CAGE_peak_3_at_EFR3B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I025128 25128917 25129881 1.13 [{'connected_gene': 'ASXL2', 'score': 14.09}, {'connected_gene': 'ENSG00000271936', 'score': 10.09}, {'connected_gene': 'POMC', 'score': 6.55}, {'connected_gene': 'EFR3B', 'score': 4.63}, {'connected_gene': 'RPS2P15', 'score': 4.17}, {'connected_gene': 'DNMT3A', 'score': 2.78}, {'connected_gene': 'DNAJC27', 'score': 1.16}, {'connected_gene': 'PIR39938', 'score': 0.44}, {'connected_gene': 'GC02P025140', 'score': 0.44}, {'connected_gene': 'SUCLA2P3', 'score': 0.25}, {'connected_gene': 'GC02M025128', 'score': 0.13}]
chr2 GH02I025044 25044533 25045627 0.43 [{'connected_gene': 'POMC', 'score': 10.8}, {'connected_gene': 'DNAJC27-AS1', 'score': 10.64}, {'connected_gene': 'DNAJC27', 'score': 10.64}, {'connected_gene': 'RPS13P5', 'score': 10.63}, {'connected_gene': 'ENSG00000202479', 'score': 10.63}, {'connected_gene': 'ADCY3', 'score': 4.47}, {'connected_gene': 'EFR3B', 'score': 0.77}, {'connected_gene': 'RN7SL856P', 'score': 0.39}]
chr2 GH02I024986 24986319 24986859 0.31 [{'connected_gene': 'POMC', 'score': 11.2}, {'connected_gene': 'EFR3B', 'score': 10.89}, {'connected_gene': 'LINC01381', 'score': 10.18}, {'connected_gene': 'ADCY3', 'score': 4.97}, {'connected_gene': 'DNAJC27', 'score': 0.39}, {'connected_gene': 'DNAJC27-AS1', 'score': 0.37}, {'connected_gene': 'ENSG00000207069', 'score': 0.34}, {'connected_gene': 'GC02M025008', 'score': 0.34}]
chr2 GH02I025037 25037580 25038673 0.38 [{'connected_gene': 'POMC', 'score': 10.35}, {'connected_gene': 'ADCY3', 'score': 4.28}, {'connected_gene': 'EFR3B', 'score': 0.77}, {'connected_gene': 'ENSG00000207069', 'score': 0.31}, {'connected_gene': 'GC02M025008', 'score': 0.31}, {'connected_gene': 'DNAJC27-AS1', 'score': 0.2}]
chr2 GH02I024970 24970449 24974021 2.3 [{'connected_gene': 'DNAJC27', 'score': 557.15}, {'connected_gene': 'DNAJC27-AS1', 'score': 550.77}, {'connected_gene': 'ADCY3', 'score': 37.72}, {'connected_gene': 'ASXL2', 'score': 14.78}, {'connected_gene': 'WDCP', 'score': 11.46}, {'connected_gene': 'EFR3B', 'score': 11.4}, {'connected_gene': 'LINC01381', 'score': 11.08}, {'connected_gene': 'POMC', 'score': 10.81}, {'connected_gene': 'PTRHD1', 'score': 6.48}, {'connected_gene': 'ENSG00000207069', 'score': 0.28}, {'connected_gene': 'GC02M025008', 'score': 0.28}]
chr2 GH02I025049 25049950 25050239 0.24 [{'connected_gene': 'DNAJC27', 'score': 12.16}, {'connected_gene': 'DNAJC27-AS1', 'score': 10.77}, {'connected_gene': 'RPS13P5', 'score': 10.76}, {'connected_gene': 'ENSG00000202479', 'score': 10.76}, {'connected_gene': 'ADCY3', 'score': 9.73}, {'connected_gene': 'EFR3B', 'score': 3.32}, {'connected_gene': 'DNMT3A', 'score': 1.26}, {'connected_gene': 'RN7SL856P', 'score': 0.44}]
chr2 GH02I025808 25808001 25808426 0.31 [{'connected_gene': 'EFR3B', 'score': 4.68}, {'connected_gene': 'GC02M025809', 'score': 0.77}, {'connected_gene': 'ASXL2', 'score': 0.19}, {'connected_gene': 'LOC105374332', 'score': 0.18}]
chr2 GH02I025041 25041117 25043956 2.13 [{'connected_gene': 'EFR3B', 'score': 550.77}, {'connected_gene': 'ADCY3', 'score': 9.14}, {'connected_gene': 'RN7SL856P', 'score': 0.37}]
chr2 GH02I025883 25883097 25883741 0.79 [{'connected_gene': 'EFR3B', 'score': 4.29}, {'connected_gene': 'NDUFB4P4', 'score': 0.77}, {'connected_gene': 'ASXL2', 'score': 0.77}]
chr2 GH02I024975 24975401 24975801 1 [{'connected_gene': 'EFR3B', 'score': 11.17}, {'connected_gene': 'LINC01381', 'score': 11.08}, {'connected_gene': 'POMC', 'score': 10.81}, {'connected_gene': 'ADCY3', 'score': 10.69}, {'connected_gene': 'DNAJC27', 'score': 10.42}, {'connected_gene': 'DNAJC27-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000207069', 'score': 0.29}, {'connected_gene': 'GC02M025008', 'score': 0.29}]
chr2 GH02I025793 25793262 25795966 0.83 [{'connected_gene': 'DTNB', 'score': 10.66}, {'connected_gene': 'KIF3C', 'score': 7.13}, {'connected_gene': 'ASXL2', 'score': 7.01}, {'connected_gene': 'EFR3B', 'score': 4.19}, {'connected_gene': 'GC02M025809', 'score': 0.37}, {'connected_gene': 'LOC105374332', 'score': 0.2}]
chr2 GH02I025249 25249701 25254300 2.41 [{'connected_gene': 'DNMT3A', 'score': 550.16}, {'connected_gene': 'POMC', 'score': 11.13}, {'connected_gene': 'ADCY3', 'score': 4.73}, {'connected_gene': 'EFR3B', 'score': 1.8}, {'connected_gene': 'GC02P025255', 'score': 0.77}, {'connected_gene': 'GC02M025128', 'score': 0.44}, {'connected_gene': 'PIR34629', 'score': 0.34}, {'connected_gene': 'GC02M025233', 'score': 0.34}]
chr2 GH02I025077 25077931 25079185 1.31 [{'connected_gene': 'ADCY3', 'score': 17.04}, {'connected_gene': 'POMC', 'score': 10.85}, {'connected_gene': 'LINC01381', 'score': 9.91}, {'connected_gene': 'SUCLA2P3', 'score': 0.77}, {'connected_gene': 'RN7SL856P', 'score': 0.34}, {'connected_gene': 'EFR3B', 'score': 0.28}]
chr2 GH02I025090 25090715 25091779 0.38 [{'connected_gene': 'ADCY3', 'score': 14.01}, {'connected_gene': 'POMC', 'score': 5.26}, {'connected_gene': 'SUCLA2P3', 'score': 0.44}, {'connected_gene': 'GC02P025140', 'score': 0.25}, {'connected_gene': 'EFR3B', 'score': 0.25}, {'connected_gene': 'PIR39938', 'score': 0.25}]
chr2 GH02I025097 25097749 25099589 0.94 [{'connected_gene': 'ADCY3', 'score': 14.49}, {'connected_gene': 'POMC', 'score': 5.93}, {'connected_gene': 'SUCLA2P3', 'score': 0.37}, {'connected_gene': 'GC02P025140', 'score': 0.26}, {'connected_gene': 'PIR39938', 'score': 0.26}, {'connected_gene': 'EFR3B', 'score': 0.22}]
chr2 GH02I024978 24978772 24978921 0.31 [{'connected_gene': 'ADCY3', 'score': 15.64}, {'connected_gene': 'EFR3B', 'score': 11.43}, {'connected_gene': 'POMC', 'score': 10.81}, {'connected_gene': 'LINC01381', 'score': 10.44}, {'connected_gene': 'DNAJC27-AS1', 'score': 0.44}, {'connected_gene': 'DNAJC27', 'score': 0.44}, {'connected_gene': 'ENSG00000207069', 'score': 0.29}, {'connected_gene': 'GC02M025008', 'score': 0.29}]
chr2 GH02I024984 24984566 24985601 0.46 [{'connected_gene': 'ADCY3', 'score': 36.97}, {'connected_gene': 'EFR3B', 'score': 11.45}, {'connected_gene': 'POMC', 'score': 10.81}, {'connected_gene': 'LINC01381', 'score': 10.44}, {'connected_gene': 'DNAJC27-AS1', 'score': 0.39}, {'connected_gene': 'DNAJC27', 'score': 0.39}, {'connected_gene': 'ENSG00000207069', 'score': 0.34}, {'connected_gene': 'GC02M025008', 'score': 0.34}]
chr2 GH02I025061 25061828 25065228 0.6 [{'connected_gene': 'ADCY3', 'score': 35.34}, {'connected_gene': 'EFR3B', 'score': 11.95}, {'connected_gene': 'POMC', 'score': 10.89}, {'connected_gene': 'RPS13P5', 'score': 10.7}, {'connected_gene': 'ENSG00000202479', 'score': 10.7}, {'connected_gene': 'DNAJC27-AS1', 'score': 10.7}, {'connected_gene': 'DNAJC27', 'score': 10.7}, {'connected_gene': 'NCOA1', 'score': 9.3}, {'connected_gene': 'RN7SL856P', 'score': 0.44}, {'connected_gene': 'SUCLA2P3', 'score': 0.37}]
chr2 GH02I025065 25065249 25066905 0.2 [{'connected_gene': 'ADCY3', 'score': 25.59}, {'connected_gene': 'EFR3B', 'score': 11.67}, {'connected_gene': 'RN7SL856P', 'score': 0.44}, {'connected_gene': 'SUCLA2P3', 'score': 0.37}]
chr2 GH02I025067 25067722 25068769 0.31 [{'connected_gene': 'ADCY3', 'score': 25.55}, {'connected_gene': 'EFR3B', 'score': 11.64}, {'connected_gene': 'SUCLA2P3', 'score': 0.39}, {'connected_gene': 'RN7SL856P', 'score': 0.39}]
chr2 GH02I025054 25054605 25057668 0.67 [{'connected_gene': 'RN7SL856P', 'score': 550.77}, {'connected_gene': 'ADCY3', 'score': 20.11}, {'connected_gene': 'POMC', 'score': 10.76}, {'connected_gene': 'DNAJC27-AS1', 'score': 10.61}, {'connected_gene': 'DNAJC27', 'score': 10.61}, {'connected_gene': 'RPS13P5', 'score': 10.6}, {'connected_gene': 'ENSG00000202479', 'score': 10.6}, {'connected_gene': 'EFR3B', 'score': 0.39}]
chr2 GH02I025089 25089201 25089400 0.4 [{'connected_gene': 'SUCLA2P3', 'score': 0.44}, {'connected_gene': 'GC02P025140', 'score': 0.25}, {'connected_gene': 'EFR3B', 'score': 0.25}, {'connected_gene': 'PIR39938', 'score': 0.25}]
chr2 GH02I025105 25105419 25106481 0.83 [{'connected_gene': 'RPS13P5', 'score': 10.96}, {'connected_gene': 'ENSG00000202479', 'score': 10.96}, {'connected_gene': 'DNAJC27-AS1', 'score': 10.96}, {'connected_gene': 'DNAJC27', 'score': 10.96}, {'connected_gene': 'ADCY3', 'score': 4.97}, {'connected_gene': 'SUCLA2P3', 'score': 0.34}, {'connected_gene': 'PIR39938', 'score': 0.29}, {'connected_gene': 'GC02P025140', 'score': 0.29}, {'connected_gene': 'EFR3B', 'score': 0.21}]
chr2 GH02I025131 25131032 25133176 0.66 [{'connected_gene': 'GC02P025140', 'score': 0.44}, {'connected_gene': 'PIR39938', 'score': 0.44}, {'connected_gene': 'SUCLA2P3', 'score': 0.23}, {'connected_gene': 'EFR3B', 'score': 0.16}, {'connected_gene': 'GC02M025128', 'score': 0.13}]

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