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
ENST00000244227 [[70120691, 70121150], [70122225, 70122346], [70123567, 70123680], [70124508, 70124588], [70130312, 70130377], [70131385, 70132349]] [[70121116, 70121150], [70122225, 70122346], [70123567, 70123680], [70124508, 70124588], [70130312, 70130377], [70131385, 70131440]]
ENST00000409116 [[70121090, 70121150], [70122225, 70122346], [70123567, 70123680], [70124508, 70124588], [70131385, 70132350]] [[70121116, 70121150], [70122225, 70122346], [70123567, 70123680], [70124508, 70124588], [70131385, 70131514]]
ENST00000450162 [[70121095, 70121150], [70122225, 70122346], [70123567, 70123680], [70124508, 70124588], [70130312, 70130377], [70131385, 70131557], [70131643, 70131803]] [[70121116, 70121150], [70122225, 70122346], [70123567, 70123680], [70124508, 70124588], [70130312, 70130377], [70131385, 70131440]]
ENST00000488986 [[70123651, 70123680], [70124508, 70124588], [70130312, 70130539]] None
ENST00000487029 [[70131385, 70131557], [70131643, 70131765], [70132397, 70132707]] [[70131385, 70131440]]
NR_037862 [[70121074, 70121150], [70122225, 70122346], [70123567, 70123680], [70124508, 70124588], [70130312, 70130377], [70131385, 70131557], [70131643, 70132368]] None
NM_006857 [[70121074, 70121150], [70122225, 70122346], [70123567, 70123680], [70124508, 70124588], [70130312, 70130377], [70131385, 70132368]] [[70121116, 70121150], [70122225, 70122346], [70123567, 70123680], [70124508, 70124588], [70130312, 70130377], [70131385, 70131440]]
Promoter
Chrom Start End Description
chr2 70121075 70121102 CAGE_peak_1_at_SNRNP27_5end
chr2 70121105 70121120 CAGE_peak_2_at_SNRNP27_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I069819 69817725 69818026 0.52 [{'connected_gene': 'GMCL1', 'score': 11.76}, {'connected_gene': 'ANXA4', 'score': 11.68}, {'connected_gene': 'SNRNP27', 'score': 11.08}, {'connected_gene': 'MXD1', 'score': 11.08}, {'connected_gene': 'GC02P069822', 'score': 0.77}, {'connected_gene': 'ENSG00000231024', 'score': 0.15}]
chr2 GH02I069827 69827820 69831269 2.38 [{'connected_gene': 'GMCL1', 'score': 562.42}, {'connected_gene': 'SNRNP27', 'score': 40.15}, {'connected_gene': 'CLEC4F', 'score': 12.29}, {'connected_gene': 'TIA1', 'score': 9.73}, {'connected_gene': 'AAK1', 'score': 4.3}, {'connected_gene': 'C2orf42', 'score': 3.25}, {'connected_gene': 'GC02P069822', 'score': 0.44}]
chr2 GH02I070080 70080579 70092203 2.33 [{'connected_gene': 'PCBP1', 'score': 550.77}, {'connected_gene': 'TIA1', 'score': 48.73}, {'connected_gene': 'PCBP1-AS1', 'score': 45.64}, {'connected_gene': 'TEX261', 'score': 31.58}, {'connected_gene': 'CLEC4F', 'score': 21.97}, {'connected_gene': 'GMCL1', 'score': 21.25}, {'connected_gene': 'ANKRD53', 'score': 20.71}, {'connected_gene': 'C2orf42', 'score': 13.54}, {'connected_gene': 'MXD1', 'score': 11.24}, {'connected_gene': 'SNRNP27', 'score': 11.13}, {'connected_gene': 'NAGK', 'score': 10.51}, {'connected_gene': 'PCYOX1', 'score': 8.74}, {'connected_gene': 'ENSG00000233060', 'score': 0.77}, {'connected_gene': 'RN7SL470P', 'score': 0.39}, {'connected_gene': 'GC02P069822', 'score': 0.07}]
chr2 GH02I070067 70067143 70071965 1.69 [{'connected_gene': 'MXD1', 'score': 35.31}, {'connected_gene': 'ASPRV1', 'score': 18.3}, {'connected_gene': 'PCBP1-AS1', 'score': 14.27}, {'connected_gene': 'C2orf42', 'score': 13.05}, {'connected_gene': 'SNRNP27', 'score': 10.76}, {'connected_gene': 'PCBP1', 'score': 7.2}, {'connected_gene': 'GMCL1', 'score': 2.24}, {'connected_gene': 'RN7SL470P', 'score': 0.44}, {'connected_gene': 'PIR47967', 'score': 0.18}, {'connected_gene': 'GC02P069822', 'score': 0.07}]
chr2 GH02I069945 69944802 69949062 1.66 [{'connected_gene': 'MXD1', 'score': 27.1}, {'connected_gene': 'SNRNP27', 'score': 19.11}, {'connected_gene': 'ASPRV1', 'score': 17.38}, {'connected_gene': 'TIA1', 'score': 11.96}, {'connected_gene': 'PCBP1', 'score': 10.33}, {'connected_gene': 'GMCL1', 'score': 9.54}, {'connected_gene': 'SNRPG', 'score': 5.68}, {'connected_gene': 'PIR33848', 'score': 0.77}, {'connected_gene': 'GC02P069822', 'score': 0.13}]
chr2 GH02I069931 69931601 69936270 1.7 [{'connected_gene': 'MXD1', 'score': 40.06}, {'connected_gene': 'SNRNP27', 'score': 34.96}, {'connected_gene': 'ASPRV1', 'score': 26.91}, {'connected_gene': 'PCBP1', 'score': 14.29}, {'connected_gene': 'PCBP1-AS1', 'score': 4.4}, {'connected_gene': 'GMCL1', 'score': 2.1}, {'connected_gene': 'C2orf42', 'score': 1.22}, {'connected_gene': 'PIR33848', 'score': 0.37}, {'connected_gene': 'GC02P069822', 'score': 0.14}]
chr2 GH02I069911 69911645 69919031 2.82 [{'connected_gene': 'MXD1', 'score': 593.5}, {'connected_gene': 'SNRNP27', 'score': 50.07}, {'connected_gene': 'ASPRV1', 'score': 20.8}, {'connected_gene': 'PCBP1-AS1', 'score': 12.58}, {'connected_gene': 'GMCL1', 'score': 11.98}, {'connected_gene': 'PCBP1', 'score': 9.29}, {'connected_gene': 'PIR33848', 'score': 0.29}, {'connected_gene': 'GC02P069822', 'score': 0.16}]
chr2 GH02I070161 70161838 70161960 0.34 [{'connected_gene': 'MXD1', 'score': 10.71}, {'connected_gene': 'SNRNP27', 'score': 10.71}, {'connected_gene': 'LINC01816', 'score': 0.28}, {'connected_gene': 'GC02P070210', 'score': 0.25}, {'connected_gene': 'C2orf42', 'score': 0.17}, {'connected_gene': 'GC02P069822', 'score': 0.05}]
chr2 GH02I069897 69897351 69898544 0.2 [{'connected_gene': 'MXD1', 'score': 550.77}, {'connected_gene': 'SNRNP27', 'score': 23.19}, {'connected_gene': 'PIR33848', 'score': 0.23}, {'connected_gene': 'GC02P069822', 'score': 0.18}]
chr2 GH02I070093 70093473 70097055 1.15 [{'connected_gene': 'PCBP1-AS1', 'score': 22.99}, {'connected_gene': 'TIA1', 'score': 13.97}, {'connected_gene': 'TEX261', 'score': 12.53}, {'connected_gene': 'MXD1', 'score': 11.23}, {'connected_gene': 'SNRNP27', 'score': 11.13}, {'connected_gene': 'CLEC4F', 'score': 10.64}, {'connected_gene': 'MRPL36P1', 'score': 0.44}, {'connected_gene': 'ENSG00000233060', 'score': 0.44}, {'connected_gene': 'GC02P069822', 'score': 0.06}]
chr2 GH02I070107 70107202 70114496 1.82 [{'connected_gene': 'PCBP1-AS1', 'score': 22.46}, {'connected_gene': 'C2orf42', 'score': 15.48}, {'connected_gene': 'FAM136A', 'score': 12.2}, {'connected_gene': 'GMCL1', 'score': 11.77}, {'connected_gene': 'NAGK', 'score': 10.51}, {'connected_gene': 'SNRNP27', 'score': 10.3}, {'connected_gene': 'MXD1', 'score': 10.3}, {'connected_gene': 'PCYOX1', 'score': 8.07}, {'connected_gene': 'PCBP1', 'score': 1.75}, {'connected_gene': 'AAK1', 'score': 1.74}, {'connected_gene': 'GC02P070112', 'score': 0.77}, {'connected_gene': 'GC02P070113', 'score': 0.77}, {'connected_gene': 'GC02P069822', 'score': 0.06}]
chr2 GH02I070018 70018801 70019534 0.43 [{'connected_gene': 'PCBP1-AS1', 'score': 14.32}, {'connected_gene': 'ASPRV1', 'score': 12.47}, {'connected_gene': 'SNRNP27', 'score': 10.37}, {'connected_gene': 'MXD1', 'score': 10.37}, {'connected_gene': 'PIR47967', 'score': 0.31}, {'connected_gene': 'RN7SL470P', 'score': 0.22}, {'connected_gene': 'GC02P069822', 'score': 0.08}]
chr2 GH02I069739 69739662 69745592 2.25 [{'connected_gene': 'ANXA4', 'score': 574.23}, {'connected_gene': 'GMCL1', 'score': 11.58}, {'connected_gene': 'SNRNP27', 'score': 8.88}, {'connected_gene': 'GFPT1', 'score': 5.53}, {'connected_gene': 'FAM136A', 'score': 4.78}, {'connected_gene': 'ENSG00000231024', 'score': 0.31}, {'connected_gene': 'GC02P069822', 'score': 0.18}]
chr2 GH02I069732 69732688 69736613 1.3 [{'connected_gene': 'ANXA4', 'score': 11.97}, {'connected_gene': 'SNRNP27', 'score': 10.21}, {'connected_gene': 'FAM136A', 'score': 5.61}, {'connected_gene': 'ENSG00000231024', 'score': 0.34}, {'connected_gene': 'GC02P069822', 'score': 0.17}]
chr2 GH02I069818 69818309 69818458 0.77 [{'connected_gene': 'ANXA4', 'score': 11.68}, {'connected_gene': 'SNRNP27', 'score': 11.08}, {'connected_gene': 'MXD1', 'score': 11.08}, {'connected_gene': 'GC02P069822', 'score': 0.77}, {'connected_gene': 'ENSG00000231024', 'score': 0.15}]
chr2 GH02I069753 69753202 69756898 1.43 [{'connected_gene': 'ANXA4', 'score': 21.25}, {'connected_gene': 'SNRNP27', 'score': 18.69}, {'connected_gene': 'MXD1', 'score': 13.6}, {'connected_gene': 'ENSG00000231024', 'score': 0.26}, {'connected_gene': 'GC02P069822', 'score': 0.2}]
chr2 GH02I069647 69647737 69651545 1.29 [{'connected_gene': 'GFPT1', 'score': 16.89}, {'connected_gene': 'AAK1', 'score': 12.89}, {'connected_gene': 'SNRNP27', 'score': 10.49}, {'connected_gene': 'MXD1', 'score': 10.48}, {'connected_gene': 'ANXA4', 'score': 0.44}, {'connected_gene': 'GC02P069577', 'score': 0.19}]
chr2 GH02I069651 69651774 69653298 0.83 [{'connected_gene': 'GFPT1', 'score': 16.87}, {'connected_gene': 'SNRNP27', 'score': 14.76}, {'connected_gene': 'AAK1', 'score': 12.89}, {'connected_gene': 'MXD1', 'score': 10.48}, {'connected_gene': 'ANXA4', 'score': 0.44}, {'connected_gene': 'GC02P069577', 'score': 0.19}]
chr2 GH02I069641 69641016 69647333 2.29 [{'connected_gene': 'AAK1', 'score': 567.2}, {'connected_gene': 'ANXA4', 'score': 550.77}, {'connected_gene': 'TIA1', 'score': 26.93}, {'connected_gene': 'PCBP1-AS1', 'score': 11.73}, {'connected_gene': 'MXD1', 'score': 10.49}, {'connected_gene': 'SNRNP27', 'score': 10.48}, {'connected_gene': 'GFPT1', 'score': 10.09}, {'connected_gene': 'GC02P069577', 'score': 0.2}]
chr2 GH02I070062 70062711 70064964 0.38 [{'connected_gene': 'ASPRV1', 'score': 11.69}, {'connected_gene': 'MXD1', 'score': 10.96}, {'connected_gene': 'SNRNP27', 'score': 10.76}, {'connected_gene': 'PCYOX1', 'score': 9.66}, {'connected_gene': 'RN7SL470P', 'score': 0.39}, {'connected_gene': 'PCBP1-AS1', 'score': 0.28}, {'connected_gene': 'PIR47967', 'score': 0.19}, {'connected_gene': 'GC02P069822', 'score': 0.07}]
chr2 GH02I069893 69893337 69895460 2.08 [{'connected_gene': 'SNRNP27', 'score': 599.87}, {'connected_gene': 'TIA1', 'score': 22.16}, {'connected_gene': 'PCYOX1', 'score': 13.22}, {'connected_gene': 'ANTXR1', 'score': 12.77}, {'connected_gene': 'PCBP1-AS1', 'score': 11.76}, {'connected_gene': 'CLEC4F', 'score': 10.64}, {'connected_gene': 'MXD1', 'score': 0.77}, {'connected_gene': 'GC02P069822', 'score': 0.19}]
chr2 GH02I069794 69794860 69801891 1.4 [{'connected_gene': 'SNRNP27', 'score': 42.12}, {'connected_gene': 'GMCL1', 'score': 23.57}, {'connected_gene': 'ANXA4', 'score': 10.95}, {'connected_gene': 'MXD1', 'score': 10.49}, {'connected_gene': 'PCBP1-AS1', 'score': 4.45}, {'connected_gene': 'GC02P069822', 'score': 0.34}, {'connected_gene': 'ENSG00000231024', 'score': 0.18}]
chr2 GH02I069788 69788849 69791943 1.24 [{'connected_gene': 'SNRNP27', 'score': 41.07}, {'connected_gene': 'GMCL1', 'score': 21.95}, {'connected_gene': 'ANXA4', 'score': 11.55}, {'connected_gene': 'MXD1', 'score': 10.05}, {'connected_gene': 'GC02P069822', 'score': 0.29}, {'connected_gene': 'ENSG00000231024', 'score': 0.18}]
chr2 GH02I069926 69926867 69927648 1.51 [{'connected_gene': 'SNRNP27', 'score': 34.71}, {'connected_gene': 'MXD1', 'score': 30.51}, {'connected_gene': 'ASPRV1', 'score': 21.89}, {'connected_gene': 'PCBP1', 'score': 7.51}, {'connected_gene': 'GMCL1', 'score': 3.01}, {'connected_gene': 'PIR33848', 'score': 0.34}, {'connected_gene': 'GC02P069822', 'score': 0.15}]
chr2 GH02I069848 69848044 69848673 0.38 [{'connected_gene': 'SNRNP27', 'score': 11.34}, {'connected_gene': 'MXD1', 'score': 11.34}, {'connected_gene': 'ASPRV1', 'score': 10.34}, {'connected_gene': 'GFPT1', 'score': 9.3}, {'connected_gene': 'ENSG00000275381', 'score': 0.77}, {'connected_gene': 'GC02P069855', 'score': 0.44}, {'connected_gene': 'GMCL1', 'score': 0.37}, {'connected_gene': 'GC02P069822', 'score': 0.31}]
chr2 GH02I069944 69944201 69944600 0.66 [{'connected_gene': 'SNRNP27', 'score': 16.83}, {'connected_gene': 'PIR33848', 'score': 0.77}, {'connected_gene': 'MXD1', 'score': 0.25}, {'connected_gene': 'GC02P069822', 'score': 0.13}]
chr2 GH02I069787 69787163 69788393 0.43 [{'connected_gene': 'SNRNP27', 'score': 30.98}, {'connected_gene': 'ANXA4', 'score': 11.55}, {'connected_gene': 'GMCL1', 'score': 10.84}, {'connected_gene': 'GC02P069822', 'score': 0.29}, {'connected_gene': 'ENSG00000231024', 'score': 0.19}]
chr2 GH02I069761 69761481 69783376 1.75 [{'connected_gene': 'SNRNP27', 'score': 38.96}, {'connected_gene': 'ANXA4', 'score': 20.34}, {'connected_gene': 'MXD1', 'score': 16.9}, {'connected_gene': 'GMCL1', 'score': 11.32}, {'connected_gene': 'PCBP1', 'score': 1.34}, {'connected_gene': 'GC02P069822', 'score': 0.23}, {'connected_gene': 'ENSG00000231024', 'score': 0.22}]
chr2 GH02I069817 69817000 69817400 1.14 [{'connected_gene': 'SNRNP27', 'score': 50.85}, {'connected_gene': 'ANXA4', 'score': 11.68}, {'connected_gene': 'MXD1', 'score': 11.08}, {'connected_gene': 'GC02P069822', 'score': 0.44}, {'connected_gene': 'ENSG00000231024', 'score': 0.15}]
chr2 GH02I069751 69751989 69752935 0.38 [{'connected_gene': 'SNRNP27', 'score': 8.27}, {'connected_gene': 'ANXA4', 'score': 5.5}, {'connected_gene': 'ENSG00000231024', 'score': 0.28}, {'connected_gene': 'GC02P069822', 'score': 0.19}]
chr2 GH02I069804 69804401 69804800 0.2 [{'connected_gene': 'SNRNP27', 'score': 20.68}, {'connected_gene': 'GC02P069822', 'score': 0.37}, {'connected_gene': 'ENSG00000231024', 'score': 0.16}, {'connected_gene': 'ANXA4', 'score': 0.1}]
chr2 GH02I069938 69938826 69940630 0.59 [{'connected_gene': 'SNRNP27', 'score': 23.18}, {'connected_gene': 'ASPRV1', 'score': 12.63}, {'connected_gene': 'GMCL1', 'score': 9.73}, {'connected_gene': 'PIR33848', 'score': 0.44}, {'connected_gene': 'MXD1', 'score': 0.26}, {'connected_gene': 'GC02P069822', 'score': 0.13}]
chr2 GH02I069920 69920156 69921289 0.31 [{'connected_gene': 'SNRNP27', 'score': 57.63}, {'connected_gene': 'ASPRV1', 'score': 11.18}, {'connected_gene': 'MXD1', 'score': 10.95}, {'connected_gene': 'GMCL1', 'score': 9.46}, {'connected_gene': 'PIR33848', 'score': 0.31}, {'connected_gene': 'GC02P069822', 'score': 0.15}]
chr2 GH02I069923 69923074 69925522 0.31 [{'connected_gene': 'SNRNP27', 'score': 42.78}, {'connected_gene': 'ASPRV1', 'score': 12.11}, {'connected_gene': 'MXD1', 'score': 10.77}, {'connected_gene': 'PIR33848', 'score': 0.34}, {'connected_gene': 'GC02P069822', 'score': 0.15}]
chr2 GH02I069901 69901368 69903802 1.04 [{'connected_gene': 'SNRNP27', 'score': 24.0}, {'connected_gene': 'ASPRV1', 'score': 10.83}, {'connected_gene': 'PCBP1-AS1', 'score': 5.18}, {'connected_gene': 'MXD1', 'score': 0.77}, {'connected_gene': 'PIR33848', 'score': 0.25}, {'connected_gene': 'GC02P069822', 'score': 0.18}]
chr2 GH02I069974 69974541 69980528 1.56 [{'connected_gene': 'PIR52583', 'score': 550.77}, {'connected_gene': 'MXD1', 'score': 47.38}, {'connected_gene': 'PCBP1-AS1', 'score': 24.84}, {'connected_gene': 'TIA1', 'score': 19.98}, {'connected_gene': 'C2orf42', 'score': 11.3}, {'connected_gene': 'CLEC4F', 'score': 11.15}, {'connected_gene': 'FAM136A', 'score': 10.39}, {'connected_gene': 'SNRNP27', 'score': 10.26}, {'connected_gene': 'ASPRV1', 'score': 9.16}, {'connected_gene': 'PCBP1', 'score': 8.62}, {'connected_gene': 'GMCL1', 'score': 2.9}, {'connected_gene': 'PIR41837', 'score': 0.44}, {'connected_gene': 'GC02P069822', 'score': 0.1}]
chr2 GH02I070114 70114981 70117895 1.35 [{'connected_gene': 'GC02P070117', 'score': 550.77}, {'connected_gene': 'MXD1', 'score': 10.3}, {'connected_gene': 'SNRNP27', 'score': 10.3}, {'connected_gene': 'PCBP1-AS1', 'score': 10.22}, {'connected_gene': 'FAM136A', 'score': 9.52}, {'connected_gene': 'GC02P070113', 'score': 0.77}, {'connected_gene': 'GC02P069822', 'score': 0.06}]
chr2 GH02I070102 70102872 70105799 1.41 [{'connected_gene': 'GC02P070103', 'score': 550.77}, {'connected_gene': 'PCBP1-AS1', 'score': 550.77}, {'connected_gene': 'MRPL36P1', 'score': 550.77}, {'connected_gene': 'MXD1', 'score': 10.44}, {'connected_gene': 'SNRNP27', 'score': 10.36}, {'connected_gene': 'GC02P070112', 'score': 0.44}, {'connected_gene': 'GC02P069822', 'score': 0.06}]
chr2 GH02I069682 69682609 69684876 1.11 [{'connected_gene': 'ENSG00000231024', 'score': 8.44}, {'connected_gene': 'SNRNP27', 'score': 7.33}, {'connected_gene': 'AAK1', 'score': 0.44}, {'connected_gene': 'ANXA4', 'score': 0.28}]

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