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
ENST00000282570 [[70056773, 70057284], [70064678, 70064802], [70066588, 70066685], [70068073, 70068171], [70070280, 70070393], [70071262, 70071328], [70074674, 70074759], [70076783, 70076874], [70081954, 70082092], [70088409, 70088479], [70092031, 70092107], [70096850, 70096996], [70098876, 70098964], [70106040, 70108528]] [[70057024, 70057284], [70064678, 70064802], [70066588, 70066685], [70068073, 70068171], [70070280, 70070393], [70071262, 70071328], [70074674, 70074759], [70076783, 70076874], [70081954, 70082092], [70088409, 70088479], [70092031, 70092107], [70096850, 70096996], [70098876, 70098964], [70106040, 70106136]]
ENST00000468386 [[70056817, 70057284], [70064678, 70064802], [70066588, 70066685], [70067188, 70067308]] None
ENST00000471404 [[70069831, 70070393], [70071262, 70071328], [70074674, 70074759], [70076783, 70076874], [70081954, 70081992]] None
ENST00000495047 [[70096688, 70096996], [70098876, 70098964], [70106040, 70106122]] None
NM_178439 [[70056737, 70057284], [70064678, 70064802], [70066588, 70066685], [70068073, 70068171], [70070280, 70070393], [70071262, 70071328], [70074674, 70074759], [70076783, 70076874], [70081954, 70082092], [70088409, 70088479], [70092031, 70092107], [70096850, 70096996], [70098876, 70098964], [70106040, 70108528]] [[70057024, 70057284], [70064678, 70064802], [70066588, 70066685], [70068073, 70068171], [70070280, 70070393], [70071262, 70071328], [70074674, 70074759], [70076783, 70076874], [70081954, 70082092], [70088409, 70088479], [70092031, 70092107], [70096850, 70096996], [70098876, 70098964], [70106040, 70106136]]
Promoter
Chrom Start End Description
chr2 70056762 70056847 CAGE_peak_1_at_GMCL1_5end
chr2 70056856 70056866 CAGE_peak_2_at_GMCL1_5end
chr2 70056906 70056953 CAGE_peak_3_at_GMCL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I070246 70246601 70249920 2.07 [{'connected_gene': 'TIA1', 'score': 560.65}, {'connected_gene': 'C2orf42', 'score': 560.53}, {'connected_gene': 'TRG-CCC2-1', 'score': 550.77}, {'connected_gene': 'PCBP1-AS1', 'score': 23.12}, {'connected_gene': 'GMCL1', 'score': 21.23}, {'connected_gene': 'MPHOSPH10', 'score': 14.5}, {'connected_gene': 'CLEC4F', 'score': 12.59}, {'connected_gene': 'TEX261', 'score': 10.6}, {'connected_gene': 'NAGK', 'score': 10.51}, {'connected_gene': 'ANKRD53', 'score': 10.09}, {'connected_gene': 'FAM136A', 'score': 5.88}, {'connected_gene': 'GC02M070219', 'score': 0.31}]
chr2 GH02I070727 70727965 70729246 0.67 [{'connected_gene': 'TIA1', 'score': 43.14}, {'connected_gene': 'ZNF638', 'score': 26.4}, {'connected_gene': 'ANKRD53', 'score': 21.08}, {'connected_gene': 'TEX261', 'score': 20.84}, {'connected_gene': 'PCBP1-AS1', 'score': 20.38}, {'connected_gene': 'MPHOSPH10', 'score': 19.25}, {'connected_gene': 'ADD2', 'score': 19.24}, {'connected_gene': 'CLEC4F', 'score': 10.77}, {'connected_gene': 'LOC105374796', 'score': 10.62}, {'connected_gene': 'GMCL1', 'score': 10.25}, {'connected_gene': 'PIR38094', 'score': 0.28}]
chr2 GH02I070291 70291167 70295237 2.1 [{'connected_gene': 'SNRPG', 'score': 550.77}, {'connected_gene': 'PCBP1-AS1', 'score': 34.02}, {'connected_gene': 'CLEC4F', 'score': 32.44}, {'connected_gene': 'TEX261', 'score': 30.91}, {'connected_gene': 'TIA1', 'score': 28.03}, {'connected_gene': 'GMCL1', 'score': 21.23}, {'connected_gene': 'PCYOX1', 'score': 13.45}, {'connected_gene': 'C2orf42', 'score': 11.83}, {'connected_gene': 'NAGK', 'score': 10.52}, {'connected_gene': 'CD207', 'score': 10.41}, {'connected_gene': 'ANKRD53', 'score': 10.09}, {'connected_gene': 'FAM136A', 'score': 5.02}, {'connected_gene': 'GC02P070271', 'score': 0.34}]
chr2 GH02I069738 69738117 69738948 0.49 [{'connected_gene': 'GMCL1', 'score': 11.39}, {'connected_gene': 'FAM136A', 'score': 4.99}, {'connected_gene': 'ENSG00000231024', 'score': 0.34}, {'connected_gene': 'GC02P069822', 'score': 0.18}, {'connected_gene': 'ANXA4', 'score': 0.16}]
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 GH02I069784 69784283 69784664 0.69 [{'connected_gene': 'GMCL1', 'score': 11.34}, {'connected_gene': 'ANXA4', 'score': 11.19}, {'connected_gene': 'GC02P069822', 'score': 0.28}, {'connected_gene': 'ENSG00000231024', 'score': 0.19}]
chr2 GH02I069736 69736695 69736961 0.4 [{'connected_gene': 'GMCL1', 'score': 11.39}, {'connected_gene': 'ENSG00000231024', 'score': 0.34}, {'connected_gene': 'GC02P069822', 'score': 0.17}, {'connected_gene': 'ANXA4', 'score': 0.16}]
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 GH02I069828 69827642 69827678 0.2 [{'connected_gene': 'GMCL1', 'score': 550.77}, {'connected_gene': 'GC02P069822', 'score': 0.77}]
chr2 GH02I070189 70189725 70191902 2.11 [{'connected_gene': 'C2orf42', 'score': 561.5}, {'connected_gene': 'TIA1', 'score': 24.78}, {'connected_gene': 'PCBP1-AS1', 'score': 12.67}, {'connected_gene': 'GMCL1', 'score': 11.76}, {'connected_gene': 'PCYOX1', 'score': 11.66}, {'connected_gene': 'MPHOSPH10', 'score': 11.07}, {'connected_gene': 'ASPRV1', 'score': 10.64}, {'connected_gene': 'NAGK', 'score': 10.51}, {'connected_gene': 'FAM136A', 'score': 10.27}, {'connected_gene': 'GC02P070210', 'score': 0.37}, {'connected_gene': 'LINC01816', 'score': 0.2}, {'connected_gene': 'GC02P069822', 'score': 0.05}]
chr2 GH02I070257 70257100 70259352 1.97 [{'connected_gene': 'PCYOX1', 'score': 559.95}, {'connected_gene': 'CLEC4F', 'score': 12.59}, {'connected_gene': 'PCBP1-AS1', 'score': 12.38}, {'connected_gene': 'GMCL1', 'score': 11.25}, {'connected_gene': 'TEX261', 'score': 10.6}, {'connected_gene': 'C2orf42', 'score': 10.16}, {'connected_gene': 'ANKRD53', 'score': 10.09}, {'connected_gene': 'GC02M070267', '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 GH02I070045 70045970 70048640 1.03 [{'connected_gene': 'MXD1', 'score': 18.8}, {'connected_gene': 'PCBP1-AS1', 'score': 14.25}, {'connected_gene': 'ASPRV1', 'score': 11.94}, {'connected_gene': 'PCYOX1', 'score': 9.41}, {'connected_gene': 'PCBP1', 'score': 8.33}, {'connected_gene': 'GMCL1', 'score': 3.97}, {'connected_gene': 'RN7SL470P', 'score': 0.31}, {'connected_gene': 'PIR47967', 'score': 0.22}, {'connected_gene': 'GC02P069822', 'score': 0.07}]
chr2 GH02I070039 70039302 70039642 0.39 [{'connected_gene': 'MXD1', 'score': 26.51}, {'connected_gene': 'PCBP1-AS1', 'score': 12.58}, {'connected_gene': 'ASPRV1', 'score': 10.81}, {'connected_gene': 'PCBP1', 'score': 9.04}, {'connected_gene': 'GMCL1', 'score': 2.88}, {'connected_gene': 'RN7SL470P', 'score': 0.28}, {'connected_gene': 'PIR47967', 'score': 0.25}, {'connected_gene': 'GC02P069822', 'score': 0.08}]
chr2 GH02I069943 69943712 69944040 0.79 [{'connected_gene': 'MXD1', 'score': 18.57}, {'connected_gene': 'ASPRV1', 'score': 13.05}, {'connected_gene': 'PCBP1', 'score': 7.49}, {'connected_gene': 'PCBP1-AS1', 'score': 5.55}, {'connected_gene': 'GMCL1', 'score': 3.46}, {'connected_gene': 'PIR33848', 'score': 0.44}, {'connected_gene': 'GC02P069822', 'score': 0.13}]
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 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 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 GH02I069785 69785929 69786854 0.2 [{'connected_gene': 'ANXA4', 'score': 11.55}, {'connected_gene': 'GMCL1', 'score': 10.84}, {'connected_gene': 'GC02P069822', 'score': 0.28}, {'connected_gene': 'ENSG00000231024', 'score': 0.19}]
chr2 GH02I069548 69548380 69548441 0.59 [{'connected_gene': 'ANXA4', 'score': 11.09}, {'connected_gene': 'GFPT1', 'score': 10.4}, {'connected_gene': 'ASPRV1', 'score': 6.56}, {'connected_gene': 'AAK1', 'score': 1.82}, {'connected_gene': 'MXD1', 'score': 1.77}, {'connected_gene': 'GMCL1', 'score': 1.17}, {'connected_gene': 'GC02M069527', 'score': 0.31}, {'connected_gene': 'GC02P069577', 'score': 0.31}, {'connected_gene': 'SNORA36C', 'score': 0.31}]
chr2 GH02I069435 69435712 69438809 2.47 [{'connected_gene': 'NFU1', 'score': 550.77}, {'connected_gene': 'GFPT1', 'score': 19.34}, {'connected_gene': 'PCBP1-AS1', 'score': 12.53}, {'connected_gene': 'GMCL1', 'score': 11.76}, {'connected_gene': 'AAK1', 'score': 2.55}]
chr2 GH02I069305 69305646 69311558 1.66 [{'connected_gene': 'GFPT1', 'score': 19.66}, {'connected_gene': 'ANTXR1', 'score': 18.49}, {'connected_gene': 'TIA1', 'score': 18.17}, {'connected_gene': 'PCBP1-AS1', 'score': 10.41}, {'connected_gene': 'GMCL1', 'score': 10.26}, {'connected_gene': 'RNU6-1216P', 'score': 10.11}, {'connected_gene': 'RNA5SP96', 'score': 10.11}, {'connected_gene': 'GKN2', 'score': 9.54}, {'connected_gene': 'PIR40340', 'score': 0.39}, {'connected_gene': 'LOC100421347', 'score': 0.22}]
chr2 GH02I069716 69716789 69718744 0.96 [{'connected_gene': 'AAK1', 'score': 11.73}, {'connected_gene': 'GMCL1', 'score': 11.35}, {'connected_gene': 'GFPT1', 'score': 9.93}, {'connected_gene': 'ENSG00000231024', 'score': 8.1}, {'connected_gene': 'ANXA4', 'score': 0.19}, {'connected_gene': 'GC02P069822', 'score': 0.15}]
chr2 GH02I069999 69999779 69999939 0.76 [{'connected_gene': 'ASPRV1', 'score': 24.48}, {'connected_gene': 'MXD1', 'score': 10.32}, {'connected_gene': 'PCBP1', 'score': 4.65}, {'connected_gene': 'GMCL1', 'score': 1.91}, {'connected_gene': 'PIR47967', 'score': 0.44}, {'connected_gene': 'RN7SL470P', 'score': 0.18}, {'connected_gene': 'PCBP1-AS1', 'score': 0.15}, {'connected_gene': 'GC02P069822', 'score': 0.1}]
chr2 GH02I070002 70002727 70002736 0.51 [{'connected_gene': 'ASPRV1', 'score': 28.36}, {'connected_gene': 'MXD1', 'score': 14.06}, {'connected_gene': 'PCBP1', 'score': 9.27}, {'connected_gene': 'GMCL1', 'score': 2.55}, {'connected_gene': 'PIR47967', 'score': 0.39}, {'connected_gene': 'RN7SL470P', 'score': 0.19}, {'connected_gene': 'PCBP1-AS1', 'score': 0.15}, {'connected_gene': 'GC02P069822', 'score': 0.09}]
chr2 GH02I070000 69999286 69999674 0.71 [{'connected_gene': 'ASPRV1', 'score': 18.34}, {'connected_gene': 'PCBP1-AS1', 'score': 12.22}, {'connected_gene': 'MXD1', 'score': 2.39}, {'connected_gene': 'PCBP1', 'score': 2.2}, {'connected_gene': 'GMCL1', 'score': 1.49}, {'connected_gene': 'PIR47967', 'score': 0.44}, {'connected_gene': 'RN7SL470P', 'score': 0.18}, {'connected_gene': 'GC02P069822', 'score': 0.1}]
chr2 GH02I070717 70717737 70717796 1.12 [{'connected_gene': 'ADD2', 'score': 560.92}, {'connected_gene': 'PCBP1-AS1', 'score': 12.53}, {'connected_gene': 'GMCL1', 'score': 11.73}, {'connected_gene': 'NAGK', 'score': 10.54}, {'connected_gene': 'PIR38094', 'score': 0.31}]
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 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 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 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}]

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