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
ENST00000586869 [[33455771, 33459468], [33460189, 33460260], [33460357, 33460517], [33462267, 33462470], [33463187, 33463234], [33463380, 33463516], [33464019, 33464212], [33464561, 33464659], [33464832, 33464909], [33466253, 33466333], [33466867, 33467085], [33468997, 33469303]] [[33459455, 33459468], [33460189, 33460260], [33460357, 33460517], [33462267, 33462470], [33463187, 33463234], [33463380, 33463468]]
ENST00000442241 [[33458365, 33459468], [33460189, 33460260], [33460357, 33460517], [33462267, 33462470], [33463187, 33463234], [33463380, 33463516], [33464019, 33464212], [33464561, 33464659], [33464832, 33464909], [33466253, 33466333], [33466867, 33467085], [33468997, 33469141], [33469276, 33469334]] [[33459455, 33459468], [33460189, 33460260], [33460357, 33460517], [33462267, 33462470], [33463187, 33463234], [33463380, 33463516], [33464019, 33464212], [33464561, 33464659], [33464832, 33464909], [33466253, 33466333], [33466867, 33467085], [33468997, 33469141], [33469276, 33469294]]
ENST00000360831 [[33459089, 33459468], [33460189, 33460260], [33460357, 33460517], [33462267, 33462470], [33463187, 33463234], [33463380, 33463516], [33464019, 33464212], [33464561, 33464659], [33466302, 33466333], [33466867, 33467085], [33468997, 33469141], [33469276, 33469322]] [[33459455, 33459468], [33460189, 33460260], [33460357, 33460517], [33462267, 33462470], [33463187, 33463234], [33463380, 33463516], [33464019, 33464212], [33464561, 33464659], [33466302, 33466333], [33466867, 33467085], [33468997, 33469141], [33469276, 33469294]]
ENST00000588019 [[33459262, 33459468], [33460189, 33460260], [33460357, 33460517], [33461961, 33462078], [33462267, 33462470], [33463187, 33463234], [33463380, 33463516], [33464019, 33464186]] [[33459455, 33459468], [33460189, 33460260], [33460357, 33460517], [33461961, 33462078], [33462267, 33462470], [33463187, 33463234], [33463380, 33463516], [33464019, 33464186]]
ENST00000589367 [[33463385, 33463516], [33464019, 33464212], [33464561, 33464659], [33464832, 33464909], [33466253, 33466333], [33466838, 33467085], [33468997, 33469141], [33469276, 33469323]] [[33466863, 33467085], [33468997, 33469141], [33469276, 33469294]]
ENST00000593176 [[33464042, 33464212], [33464832, 33464909], [33466253, 33466333], [33466867, 33467085], [33468997, 33469252]] None
ENST00000588642 [[33464071, 33464212], [33464561, 33464659], [33464832, 33464909], [33466253, 33466333], [33468997, 33469141], [33469276, 33469316]] [[33464887, 33464909], [33466253, 33466333], [33468997, 33469141], [33469276, 33469294]]
NM_001014445 [[33458340, 33459468], [33460189, 33460260], [33460357, 33460517], [33462267, 33462470], [33463187, 33463234], [33463380, 33463516], [33464019, 33464212], [33464561, 33464659], [33464832, 33464909], [33466253, 33466333], [33466867, 33467085], [33468997, 33469270]] [[33459455, 33459468], [33460189, 33460260], [33460357, 33460517], [33462267, 33462470], [33463187, 33463234], [33463380, 33463468]]
NM_018096 [[33458340, 33459468], [33460189, 33460260], [33460357, 33460517], [33462267, 33462470], [33463187, 33463234], [33463380, 33463516], [33464019, 33464212], [33464561, 33464659], [33464832, 33464909], [33466253, 33466333], [33466867, 33467085], [33468997, 33469141], [33469276, 33469334]] [[33459455, 33459468], [33460189, 33460260], [33460357, 33460517], [33462267, 33462470], [33463187, 33463234], [33463380, 33463516], [33464019, 33464212], [33464561, 33464659], [33464832, 33464909], [33466253, 33466333], [33466867, 33467085], [33468997, 33469141], [33469276, 33469294]]
Promoter
Chrom Start End Description
chr17 33469299 33469328 CAGE_peak_1_at_NLE1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I035252 35252009 35255199 1.28 [{'connected_gene': 'ZNF830', 'score': 25.42}, {'connected_gene': 'SLFN5', 'score': 24.98}, {'connected_gene': 'LIG3', 'score': 20.43}, {'connected_gene': 'SLFN12L', 'score': 10.5}, {'connected_gene': 'CCT6B', 'score': 10.48}, {'connected_gene': 'NLE1', 'score': 9.91}, {'connected_gene': 'LOC105371932', 'score': 0.44}, {'connected_gene': 'ENSG00000267364', 'score': 0.22}]
chr17 GH17I035176 35176992 35178237 0.2 [{'connected_gene': 'NLE1', 'score': 25.33}, {'connected_gene': 'SLFN5', 'score': 18.2}, {'connected_gene': 'UNC45B', 'score': 11.87}, {'connected_gene': 'SLFN12L', 'score': 11.12}, {'connected_gene': 'SLFN13', 'score': 10.23}, {'connected_gene': 'RNU6-840P', 'score': 9.29}, {'connected_gene': 'GC17M035176', 'score': 0.77}, {'connected_gene': 'GC17M035166', 'score': 0.44}]
chr17 GH17I035172 35171542 35172400 0.83 [{'connected_gene': 'NLE1', 'score': 24.08}, {'connected_gene': 'SLFN5', 'score': 11.04}, {'connected_gene': 'SLFN12L', 'score': 11.01}, {'connected_gene': 'GC17M035166', 'score': 0.77}, {'connected_gene': 'GC17M035176', 'score': 0.44}, {'connected_gene': 'UNC45B', 'score': 0.34}]
chr17 GH17I035171 35171322 35171471 0.31 [{'connected_gene': 'NLE1', 'score': 11.48}, {'connected_gene': 'SLFN5', 'score': 11.04}, {'connected_gene': 'SLFN12L', 'score': 11.01}, {'connected_gene': 'GC17M035166', 'score': 0.77}, {'connected_gene': 'GC17M035176', 'score': 0.44}, {'connected_gene': 'UNC45B', 'score': 0.34}]
chr17 GH17I035140 35140918 35142931 2.06 [{'connected_gene': 'NLE1', 'score': 550.77}, {'connected_gene': 'GC17P035142', 'score': 550.77}, {'connected_gene': 'GC17M035139', 'score': 550.77}, {'connected_gene': 'LIG3', 'score': 32.29}, {'connected_gene': 'ZNF830', 'score': 28.58}, {'connected_gene': 'LINC02001', 'score': 12.3}, {'connected_gene': 'CCT6B', 'score': 10.52}, {'connected_gene': 'RFFL', 'score': 4.74}]
chr17 GH17I035256 35256121 35257951 1.31 [{'connected_gene': 'SLFN5', 'score': 24.98}, {'connected_gene': 'RAD51D', 'score': 13.95}, {'connected_gene': 'NLE1', 'score': 9.99}, {'connected_gene': 'SLFN12L', 'score': 9.9}, {'connected_gene': 'ENSG00000267074', 'score': 5.83}, {'connected_gene': 'LOC105371932', 'score': 0.39}, {'connected_gene': 'ENSG00000267364', 'score': 0.22}]
chr17 GH17I035237 35237982 35239663 0.63 [{'connected_gene': 'SLFN5', 'score': 32.7}, {'connected_gene': 'NLE1', 'score': 7.63}, {'connected_gene': 'LOC105371932', 'score': 0.44}, {'connected_gene': 'SLC35G3', 'score': 0.26}]
chr17 GH17I035232 35232772 35234230 0.2 [{'connected_gene': 'SLFN5', 'score': 42.96}, {'connected_gene': 'NLE1', 'score': 7.11}, {'connected_gene': 'LOC105371932', 'score': 5.36}, {'connected_gene': 'SLC35G3', 'score': 0.28}]
chr17 GH17I035240 35240201 35240800 0.4 [{'connected_gene': 'SLFN5', 'score': 9.8}, {'connected_gene': 'NLE1', 'score': 8.87}, {'connected_gene': 'LOC105371932', 'score': 0.77}, {'connected_gene': 'SLC35G3', 'score': 0.25}]
chr17 GH17I035212 35212408 35217774 1.22 [{'connected_gene': 'SLFN5', 'score': 44.27}, {'connected_gene': 'NLE1', 'score': 21.6}, {'connected_gene': 'SLFN12L', 'score': 18.03}, {'connected_gene': 'AP2B1', 'score': 10.73}, {'connected_gene': 'LINC02001', 'score': 10.71}, {'connected_gene': 'UNC45B', 'score': 10.66}, {'connected_gene': 'ZNF830', 'score': 2.27}, {'connected_gene': 'SLC35G3', 'score': 0.34}]
chr17 GH17I035529 35529366 35532940 0.93 [{'connected_gene': 'SLFN5', 'score': 16.63}, {'connected_gene': 'AP2B1', 'score': 11.1}, {'connected_gene': 'SLFN13', 'score': 10.93}, {'connected_gene': 'NLE1', 'score': 9.8}, {'connected_gene': 'SLFN12L', 'score': 5.4}, {'connected_gene': 'RASL10B', 'score': 5.14}, {'connected_gene': 'SLFN12', 'score': 4.93}, {'connected_gene': 'CCL5', 'score': 4.74}, {'connected_gene': 'SLFN11', 'score': 4.43}, {'connected_gene': 'RFFL', 'score': 1.84}, {'connected_gene': 'GC17P035523', 'score': 0.44}]
chr17 GH17I035217 35217822 35219925 0.83 [{'connected_gene': 'SLFN5', 'score': 20.42}, {'connected_gene': 'UNC45B', 'score': 10.44}, {'connected_gene': 'NLE1', 'score': 10.43}, {'connected_gene': 'SLFN12L', 'score': 9.92}, {'connected_gene': 'SLC35G3', 'score': 0.34}]
chr17 GH17I035185 35185917 35186075 0.55 [{'connected_gene': 'SLFN5', 'score': 15.06}, {'connected_gene': 'UNC45B', 'score': 11.42}, {'connected_gene': 'NLE1', 'score': 11.41}, {'connected_gene': 'SLFN12L', 'score': 10.7}, {'connected_gene': 'RFFL', 'score': 5.51}, {'connected_gene': 'ENSG00000266981', 'score': 0.77}, {'connected_gene': 'GC17M035176', 'score': 0.44}]
chr17 GH17I035263 35263611 35267550 0.31 [{'connected_gene': 'SLFN5', 'score': 37.37}, {'connected_gene': 'SLFN13', 'score': 10.66}, {'connected_gene': 'NLE1', 'score': 9.87}, {'connected_gene': 'RNU6-840P', 'score': 9.28}, {'connected_gene': 'LOC105371932', 'score': 0.34}, {'connected_gene': 'ENSG00000267364', 'score': 0.25}]
chr17 GH17I035267 35267609 35271120 0.43 [{'connected_gene': 'SLFN5', 'score': 37.36}, {'connected_gene': 'SLFN13', 'score': 10.67}, {'connected_gene': 'NLE1', 'score': 9.87}, {'connected_gene': 'SLFN12L', 'score': 9.74}, {'connected_gene': 'RNU6-840P', 'score': 9.28}, {'connected_gene': 'LOC105371932', 'score': 0.31}, {'connected_gene': 'ENSG00000267364', 'score': 0.26}]
chr17 GH17I035241 35241039 35246757 2.21 [{'connected_gene': 'SLFN5', 'score': 595.52}, {'connected_gene': 'LOC105371932', 'score': 550.77}, {'connected_gene': 'UNC45B', 'score': 7.73}, {'connected_gene': 'NLE1', 'score': 7.59}]
chr17 GH17I035250 35250717 35250893 0.42 [{'connected_gene': 'SLFN5', 'score': 21.66}, {'connected_gene': 'SLFN12L', 'score': 10.5}, {'connected_gene': 'NLE1', 'score': 9.92}, {'connected_gene': 'RFFL', 'score': 2.21}, {'connected_gene': 'ZNF830', 'score': 1.32}, {'connected_gene': 'LOC105371932', 'score': 0.44}, {'connected_gene': 'ENSG00000267364', 'score': 0.21}]
chr17 GH17I035146 35146206 35149125 0.93 [{'connected_gene': 'UNC45B', 'score': 550.77}, {'connected_gene': 'NLE1', 'score': 10.97}, {'connected_gene': 'SLFN12L', 'score': 10.38}, {'connected_gene': 'LIG3', 'score': 8.87}, {'connected_gene': 'RFFL', 'score': 5.52}]
chr17 GH17I035079 35079221 35080375 1.03 [{'connected_gene': 'LIG3', 'score': 22.61}, {'connected_gene': 'NLE1', 'score': 10.09}, {'connected_gene': 'RFFL', 'score': 4.86}, {'connected_gene': 'RPL37P22', 'score': 0.77}, {'connected_gene': 'GC17P035052', 'score': 0.31}, {'connected_gene': 'ENSG00000267618', 'score': 0.26}, {'connected_gene': 'RAD51L3-RFFL', 'score': 0.26}]
chr17 GH17I035083 35083875 35090450 2.25 [{'connected_gene': 'LIG3', 'score': 65.27}, {'connected_gene': 'RFFL', 'score': 20.48}, {'connected_gene': 'SLFN5', 'score': 13.08}, {'connected_gene': 'ZNF830', 'score': 12.13}, {'connected_gene': 'CCT6B', 'score': 10.43}, {'connected_gene': 'NLE1', 'score': 9.82}, {'connected_gene': 'RPL37P22', 'score': 0.39}, {'connected_gene': 'ENSG00000267618', 'score': 0.29}, {'connected_gene': 'RAD51L3-RFFL', 'score': 0.29}]
chr17 GH17I034996 34996656 34999258 1.19 [{'connected_gene': 'LIG3', 'score': 44.59}, {'connected_gene': 'RFFL', 'score': 11.66}, {'connected_gene': 'RNU6-840P', 'score': 11.65}, {'connected_gene': 'NLE1', 'score': 10.98}, {'connected_gene': 'GC17P035006', 'score': 0.44}, {'connected_gene': 'CCT6B', 'score': 0.37}]
chr17 GH17I035015 35015240 35015871 0.2 [{'connected_gene': 'LIG3', 'score': 24.79}, {'connected_gene': 'RFFL', 'score': 11.48}, {'connected_gene': 'RNU6-840P', 'score': 11.48}, {'connected_gene': 'NLE1', 'score': 10.43}, {'connected_gene': 'PIR51658', 'score': 0.77}, {'connected_gene': 'ENSG00000273687', 'score': 0.77}, {'connected_gene': 'ENSG00000267618', 'score': 0.14}, {'connected_gene': 'RAD51L3-RFFL', 'score': 0.14}]
chr17 GH17I035080 35080600 35081000 0.9 [{'connected_gene': 'LIG3', 'score': 10.71}, {'connected_gene': 'CCT6B', 'score': 10.44}, {'connected_gene': 'ZNF830', 'score': 10.42}, {'connected_gene': 'NLE1', 'score': 9.81}, {'connected_gene': 'RPL37P22', 'score': 0.77}, {'connected_gene': 'RFFL', 'score': 0.44}, {'connected_gene': 'GC17P035052', 'score': 0.31}, {'connected_gene': 'ENSG00000267618', 'score': 0.26}, {'connected_gene': 'RAD51L3-RFFL', 'score': 0.26}]
chr17 GH17I035081 35081550 35083584 1.17 [{'connected_gene': 'LIG3', 'score': 10.71}, {'connected_gene': 'CCT6B', 'score': 10.44}, {'connected_gene': 'ZNF830', 'score': 10.41}, {'connected_gene': 'NLE1', 'score': 9.82}, {'connected_gene': 'RPL37P22', 'score': 0.44}, {'connected_gene': 'RFFL', 'score': 0.44}, {'connected_gene': 'GC17P035052', 'score': 0.31}, {'connected_gene': 'ENSG00000267618', 'score': 0.28}, {'connected_gene': 'RAD51L3-RFFL', 'score': 0.28}]
chr17 GH17I034990 34990587 34991979 0.63 [{'connected_gene': 'LIG3', 'score': 13.06}, {'connected_gene': 'RNU6-840P', 'score': 11.57}, {'connected_gene': 'NLE1', 'score': 10.82}, {'connected_gene': 'ZNF830', 'score': 10.79}, {'connected_gene': 'CCT6B', 'score': 0.39}, {'connected_gene': 'GC17P035006', 'score': 0.39}]
chr17 GH17I034993 34993590 34996092 0.2 [{'connected_gene': 'LIG3', 'score': 19.49}, {'connected_gene': 'RNU6-840P', 'score': 11.13}, {'connected_gene': 'NLE1', 'score': 10.0}, {'connected_gene': 'CCT6B', 'score': 0.39}, {'connected_gene': 'GC17P035006', 'score': 0.39}]
chr17 GH17I035020 35020795 35024723 1.36 [{'connected_gene': 'LIG3', 'score': 23.39}, {'connected_gene': 'RNU6-840P', 'score': 11.2}, {'connected_gene': 'SLFN12L', 'score': 11.05}, {'connected_gene': 'NLE1', 'score': 10.19}, {'connected_gene': 'SLFN5', 'score': 4.15}, {'connected_gene': 'ZNF830', 'score': 3.71}, {'connected_gene': 'CCT6B', 'score': 1.6}, {'connected_gene': 'RFFL', 'score': 1.58}, {'connected_gene': 'ENSG00000273687', 'score': 0.77}, {'connected_gene': 'GC17P035052', 'score': 0.31}, {'connected_gene': 'ENSG00000267618', 'score': 0.15}, {'connected_gene': 'RAD51L3-RFFL', 'score': 0.15}]
chr17 GH17I035016 35016152 35016972 0.2 [{'connected_gene': 'RFFL', 'score': 11.48}, {'connected_gene': 'RNU6-840P', 'score': 11.48}, {'connected_gene': 'LIG3', 'score': 10.96}, {'connected_gene': 'NLE1', 'score': 10.43}, {'connected_gene': 'PIR51658', 'score': 0.77}, {'connected_gene': 'ENSG00000273687', 'score': 0.77}, {'connected_gene': 'ENSG00000267618', 'score': 0.15}, {'connected_gene': 'RAD51L3-RFFL', 'score': 0.15}]
chr17 GH17I035258 35258352 35260622 0.2 [{'connected_gene': 'SLFN12L', 'score': 10.66}, {'connected_gene': 'NLE1', 'score': 9.86}, {'connected_gene': 'SLFN5', 'score': 6.75}, {'connected_gene': 'LOC105371932', 'score': 0.37}, {'connected_gene': 'ENSG00000267364', 'score': 0.23}]
chr17 GH17I035486 35486628 35488800 1.74 [{'connected_gene': 'SLFN12L', 'score': 560.95}, {'connected_gene': 'SLFN13', 'score': 11.59}, {'connected_gene': 'SLFN5', 'score': 10.24}, {'connected_gene': 'NLE1', 'score': 10.15}, {'connected_gene': 'CCL23', 'score': 4.66}, {'connected_gene': 'E2F3P1', 'score': 0.77}, {'connected_gene': 'ENSG00000267349', 'score': 0.44}]
chr17 GH17I035741 35741222 35741351 0.64 [{'connected_gene': 'GC17P035742', 'score': 550.77}, {'connected_gene': 'MMP28', 'score': 11.16}, {'connected_gene': 'TAF15', 'score': 11.04}, {'connected_gene': 'NLE1', 'score': 9.43}, {'connected_gene': 'RASL10B', 'score': 0.44}, {'connected_gene': 'GC17P035735', 'score': 0.44}, {'connected_gene': 'PIR33765', 'score': 0.44}, {'connected_gene': 'GC17P035734', 'score': 0.44}]
chr17 GH17I035187 35187802 35189775 0.52 [{'connected_gene': 'ENSG00000266981', 'score': 550.77}, {'connected_gene': 'SLFN5', 'score': 19.93}, {'connected_gene': 'UNC45B', 'score': 11.41}, {'connected_gene': 'NLE1', 'score': 11.39}, {'connected_gene': 'SLFN12L', 'score': 10.7}, {'connected_gene': 'LOC100130114', 'score': 0.77}]
chr17 GH17I035010 35010411 35014983 0.38 [{'connected_gene': 'PIR51658', 'score': 550.77}, {'connected_gene': 'LIG3', 'score': 32.95}, {'connected_gene': 'RFFL', 'score': 11.48}, {'connected_gene': 'RNU6-840P', 'score': 11.47}, {'connected_gene': 'NLE1', 'score': 10.43}, {'connected_gene': 'ENSG00000273687', 'score': 0.44}, {'connected_gene': 'ENSG00000267618', 'score': 0.14}, {'connected_gene': 'RAD51L3-RFFL', 'score': 0.14}]
chr17 GH17I035127 35127013 35131060 0.46 [{'connected_gene': 'PIR40636', 'score': 550.77}, {'connected_gene': 'LIG3', 'score': 18.85}, {'connected_gene': 'RNU6-840P', 'score': 11.27}, {'connected_gene': 'NLE1', 'score': 6.14}, {'connected_gene': 'FNDC8', 'score': 0.44}]
chr17 GH17I035017 35017370 35019464 0.31 [{'connected_gene': 'ENSG00000273687', 'score': 550.77}, {'connected_gene': 'RFFL', 'score': 11.48}, {'connected_gene': 'RNU6-840P', 'score': 11.48}, {'connected_gene': 'LIG3', 'score': 11.35}, {'connected_gene': 'NLE1', 'score': 10.43}, {'connected_gene': 'PIR51658', 'score': 0.44}, {'connected_gene': 'ENSG00000267618', 'score': 0.15}, {'connected_gene': 'RAD51L3-RFFL', 'score': 0.15}]

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