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
ENST00000264005 [[67973652, 67974381], [67976265, 67976490], [67976573, 67976669], [67976763, 67976879], [67976958, 67977115], [67977850, 67978034]] [[67973806, 67974381], [67976265, 67976490], [67976573, 67976669], [67976763, 67976879], [67976958, 67977115], [67977850, 67978004]]
ENST00000573538 [[67973784, 67974381], [67974639, 67974734], [67976265, 67976490], [67976573, 67976669], [67976763, 67976833]] [[67974708, 67974734], [67976265, 67976490], [67976573, 67976669], [67976763, 67976833]]
ENST00000570369 [[67973784, 67973977], [67976763, 67976879], [67976958, 67976997]] [[67973810, 67973977], [67976763, 67976879], [67976958, 67976997]]
ENST00000570980 [[67974148, 67974381], [67976265, 67976490], [67976573, 67976669], [67976763, 67976879], [67976958, 67977528]] [[67974148, 67974381], [67976265, 67976490], [67976573, 67976669], [67976763, 67976879], [67976958, 67977053]]
ENST00000575467 [[67975270, 67975357], [67976265, 67976490], [67976573, 67976669], [67976763, 67976879], [67976958, 67977092], [67977850, 67978034]] [[67976964, 67977092], [67977850, 67978004]]
ENST00000576450 [[67975711, 67975855], [67976265, 67976480]] [[67975829, 67975855], [67976265, 67976480]]
ENST00000570396 [[67975719, 67975945], [67976265, 67976361]] [[67975855, 67975945], [67976265, 67976361]]
ENST00000573846 [[67976059, 67976490], [67976573, 67976669], [67976763, 67976804]] None
ENST00000575277 [[67976301, 67976669], [67976763, 67976879], [67976958, 67977047]] None
NM_000229 [[67973786, 67974381], [67976265, 67976490], [67976573, 67976669], [67976763, 67976879], [67976958, 67977115], [67977850, 67978015]] [[67973806, 67974381], [67976265, 67976490], [67976573, 67976669], [67976763, 67976879], [67976958, 67977115], [67977850, 67978004]]
Promoter
Chrom Start End Description
chr16 67978016 67978032 CAGE_peak_1_at_LCAT_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I067479 67479572 67484532 2.56 [{'connected_gene': 'ATP6V0D1', 'score': 577.25}, {'connected_gene': 'LOC101927837', 'score': 550.77}, {'connected_gene': 'AGRP', 'score': 550.77}, {'connected_gene': 'ZDHHC1', 'score': 38.46}, {'connected_gene': 'ENKD1', 'score': 31.93}, {'connected_gene': 'NAE1', 'score': 28.3}, {'connected_gene': 'EDC4', 'score': 24.27}, {'connected_gene': 'CENPT', 'score': 23.87}, {'connected_gene': 'CTCF', 'score': 21.56}, {'connected_gene': 'SLC7A6OS', 'score': 18.46}, {'connected_gene': 'E2F4', 'score': 17.02}, {'connected_gene': 'ENSG00000260465', 'score': 15.27}, {'connected_gene': 'RIPOR1', 'score': 13.75}, {'connected_gene': 'ENSG00000263276', 'score': 11.83}, {'connected_gene': 'ACD', 'score': 11.51}, {'connected_gene': 'CARMIL2', 'score': 10.97}, {'connected_gene': 'PLEKHG4', 'score': 10.97}, {'connected_gene': 'C16orf86', 'score': 10.79}, {'connected_gene': 'HSD11B2', 'score': 10.47}, {'connected_gene': 'PARD6A', 'score': 10.38}, {'connected_gene': 'ENSG00000260891', 'score': 10.2}, {'connected_gene': 'FBXL8', 'score': 9.91}, {'connected_gene': 'LCAT', 'score': 9.81}, {'connected_gene': 'LRRC36', 'score': 9.58}, {'connected_gene': 'RANBP10', 'score': 9.23}, {'connected_gene': 'PSMB10', 'score': 4.4}, {'connected_gene': 'C16orf70', 'score': 3.57}, {'connected_gene': 'LRRC29', 'score': 1.57}]
chr16 GH16I067939 67939654 67940886 0.82 [{'connected_gene': 'DPEP3', 'score': 18.8}, {'connected_gene': 'RANBP10', 'score': 12.52}, {'connected_gene': 'DUS2', 'score': 11.51}, {'connected_gene': 'RNU6-359P', 'score': 11.44}, {'connected_gene': 'PSKH1', 'score': 11.04}, {'connected_gene': 'ENKD1', 'score': 11.01}, {'connected_gene': 'C16orf86', 'score': 11.01}, {'connected_gene': 'NRN1L', 'score': 10.76}, {'connected_gene': 'CENPT', 'score': 10.57}, {'connected_gene': 'THAP11', 'score': 10.56}, {'connected_gene': 'NFATC3', 'score': 10.22}, {'connected_gene': 'PARD6A', 'score': 9.85}, {'connected_gene': 'ACD', 'score': 9.85}, {'connected_gene': 'PSMB10', 'score': 0.77}, {'connected_gene': 'LCAT', 'score': 0.77}]
chr16 GH16I068012 68012764 68014139 0.94 [{'connected_gene': 'DPEP3', 'score': 11.66}, {'connected_gene': 'NFATC3', 'score': 10.88}, {'connected_gene': 'PRMT7', 'score': 10.86}, {'connected_gene': 'LCAT', 'score': 10.04}, {'connected_gene': 'DPEP2NB', 'score': 0.77}, {'connected_gene': 'KARSP3', 'score': 0.44}, {'connected_gene': 'DUS2', 'score': 0.31}]
chr16 GH16I067997 67997601 68001999 1.7 [{'connected_gene': 'DPEP2', 'score': 550.77}, {'connected_gene': 'LCAT', 'score': 20.0}, {'connected_gene': 'DDX28', 'score': 12.06}, {'connected_gene': 'SLC12A4', 'score': 11.62}, {'connected_gene': 'PRMT7', 'score': 11.03}, {'connected_gene': 'ENSG00000263276', 'score': 4.96}, {'connected_gene': 'HSD11B2', 'score': 4.09}, {'connected_gene': 'DUS2', 'score': 0.39}]
chr16 GH16I067760 67760124 67761405 0.8 [{'connected_gene': 'RANBP10', 'score': 29.15}, {'connected_gene': 'GFOD2', 'score': 13.54}, {'connected_gene': 'TSNAXIP1', 'score': 10.96}, {'connected_gene': 'LCAT', 'score': 10.85}, {'connected_gene': 'SLC12A4', 'score': 10.84}, {'connected_gene': 'EDC4', 'score': 10.48}, {'connected_gene': 'CARMIL2', 'score': 10.09}, {'connected_gene': 'ENSG00000237718', 'score': 9.88}, {'connected_gene': 'DUS2', 'score': 9.38}, {'connected_gene': 'CTCF', 'score': 2.3}, {'connected_gene': 'DPEP2', 'score': 1.66}, {'connected_gene': 'ENSG00000270165', 'score': 0.34}]
chr16 GH16I067892 67892421 67894990 1.98 [{'connected_gene': 'PSKH1', 'score': 550.77}, {'connected_gene': 'DUS2', 'score': 21.13}, {'connected_gene': 'EDC4', 'score': 11.43}, {'connected_gene': 'PRMT7', 'score': 10.81}, {'connected_gene': 'ENKD1', 'score': 10.12}, {'connected_gene': 'C16orf86', 'score': 10.12}, {'connected_gene': 'DDX28', 'score': 10.02}, {'connected_gene': 'DPEP3', 'score': 10.02}, {'connected_gene': 'PARD6A', 'score': 9.96}, {'connected_gene': 'ACD', 'score': 9.96}, {'connected_gene': 'LCAT', 'score': 9.3}, {'connected_gene': 'DPEP2', 'score': 5.58}, {'connected_gene': 'NFATC3', 'score': 5.27}, {'connected_gene': 'TPPP3', 'score': 3.74}, {'connected_gene': 'CTRL', 'score': 0.28}]
chr16 GH16I067920 67920493 67920972 0.2 [{'connected_gene': 'PSKH1', 'score': 11.94}, {'connected_gene': 'PRMT7', 'score': 11.61}, {'connected_gene': 'LCAT', 'score': 11.52}, {'connected_gene': 'SLC12A4', 'score': 11.43}, {'connected_gene': 'NRN1L', 'score': 11.32}, {'connected_gene': 'CENPT', 'score': 10.76}, {'connected_gene': 'THAP11', 'score': 10.75}, {'connected_gene': 'EDC4', 'score': 10.67}, {'connected_gene': 'DUS2', 'score': 10.16}, {'connected_gene': 'NFATC3', 'score': 9.79}, {'connected_gene': 'CTRL', 'score': 0.39}]
chr16 GH16I067926 67923518 67923667 0.51 [{'connected_gene': 'PSKH1', 'score': 11.92}, {'connected_gene': 'LCAT', 'score': 11.52}, {'connected_gene': 'SLC12A4', 'score': 11.43}, {'connected_gene': 'NRN1L', 'score': 11.32}, {'connected_gene': 'CENPT', 'score': 10.75}, {'connected_gene': 'THAP11', 'score': 10.74}, {'connected_gene': 'EDC4', 'score': 10.66}, {'connected_gene': 'DUS2', 'score': 10.16}, {'connected_gene': 'NFATC3', 'score': 9.79}, {'connected_gene': 'HSD11B2', 'score': 3.95}, {'connected_gene': 'CTRL', 'score': 0.44}]
chr16 GH16I067919 67919443 67919913 0.38 [{'connected_gene': 'PSKH1', 'score': 11.94}, {'connected_gene': 'LCAT', 'score': 11.52}, {'connected_gene': 'SLC12A4', 'score': 11.43}, {'connected_gene': 'NRN1L', 'score': 11.34}, {'connected_gene': 'CENPT', 'score': 10.76}, {'connected_gene': 'THAP11', 'score': 10.75}, {'connected_gene': 'EDC4', 'score': 10.67}, {'connected_gene': 'DUS2', 'score': 10.16}, {'connected_gene': 'NFATC3', 'score': 9.8}, {'connected_gene': 'CTRL', 'score': 0.39}]
chr16 GH16I067923 67923778 67923927 0.4 [{'connected_gene': 'PSKH1', 'score': 11.92}, {'connected_gene': 'LCAT', 'score': 11.52}, {'connected_gene': 'SLC12A4', 'score': 11.43}, {'connected_gene': 'NRN1L', 'score': 11.32}, {'connected_gene': 'CENPT', 'score': 10.75}, {'connected_gene': 'THAP11', 'score': 10.74}, {'connected_gene': 'EDC4', 'score': 10.66}, {'connected_gene': 'DUS2', 'score': 10.16}, {'connected_gene': 'NFATC3', 'score': 9.79}, {'connected_gene': 'CTRL', 'score': 0.44}]
chr16 GH16I067896 67896601 67897601 0.8 [{'connected_gene': 'DUS2', 'score': 21.13}, {'connected_gene': 'ENKD1', 'score': 14.87}, {'connected_gene': 'EDC4', 'score': 11.44}, {'connected_gene': 'PRMT7', 'score': 11.32}, {'connected_gene': 'THAP11', 'score': 10.71}, {'connected_gene': 'CENPT', 'score': 10.69}, {'connected_gene': 'LCAT', 'score': 10.31}, {'connected_gene': 'SLC12A4', 'score': 10.26}, {'connected_gene': 'DPEP3', 'score': 10.12}, {'connected_gene': 'C16orf86', 'score': 10.12}, {'connected_gene': 'DDX28', 'score': 10.03}, {'connected_gene': 'PARD6A', 'score': 9.96}, {'connected_gene': 'ACD', 'score': 9.96}, {'connected_gene': 'DPEP2', 'score': 5.59}, {'connected_gene': 'PSKH1', 'score': 0.77}, {'connected_gene': 'CTRL', 'score': 0.28}]
chr16 GH16I067921 67921442 67922606 0.62 [{'connected_gene': 'DUS2', 'score': 21.22}, {'connected_gene': 'PSKH1', 'score': 11.94}, {'connected_gene': 'PRMT7', 'score': 11.61}, {'connected_gene': 'LCAT', 'score': 11.52}, {'connected_gene': 'SLC12A4', 'score': 11.43}, {'connected_gene': 'NRN1L', 'score': 11.32}, {'connected_gene': 'CENPT', 'score': 10.76}, {'connected_gene': 'THAP11', 'score': 10.75}, {'connected_gene': 'EDC4', 'score': 10.67}, {'connected_gene': 'NFATC3', 'score': 9.79}, {'connected_gene': 'CTRL', 'score': 0.39}]
chr16 GH16I067915 67915338 67919425 1.21 [{'connected_gene': 'DUS2', 'score': 19.51}, {'connected_gene': 'PRMT7', 'score': 14.89}, {'connected_gene': 'PSKH1', 'score': 11.96}, {'connected_gene': 'EDC4', 'score': 11.61}, {'connected_gene': 'LCAT', 'score': 11.49}, {'connected_gene': 'NRN1L', 'score': 11.42}, {'connected_gene': 'SLC12A4', 'score': 11.41}, {'connected_gene': 'CENPT', 'score': 11.38}, {'connected_gene': 'THAP11', 'score': 11.36}, {'connected_gene': 'DPEP3', 'score': 10.44}, {'connected_gene': 'DDX28', 'score': 10.1}, {'connected_gene': 'NFATC3', 'score': 9.95}, {'connected_gene': 'DPEP2', 'score': 9.13}, {'connected_gene': 'HSD11B2', 'score': 3.96}, {'connected_gene': 'CTRL', 'score': 0.37}]
chr16 GH16I068039 68039001 68041327 1.09 [{'connected_gene': 'PRMT7', 'score': 14.98}, {'connected_gene': 'LCAT', 'score': 10.49}, {'connected_gene': 'DDX28', 'score': 0.37}, {'connected_gene': 'ENSG00000261864', 'score': 0.28}, {'connected_gene': 'DUS2', 'score': 0.23}]
chr16 GH16I067992 67992818 67996939 2 [{'connected_gene': 'PRMT7', 'score': 36.73}, {'connected_gene': 'EDC4', 'score': 25.55}, {'connected_gene': 'ACD', 'score': 21.95}, {'connected_gene': 'DDX28', 'score': 18.32}, {'connected_gene': 'E2F4', 'score': 16.99}, {'connected_gene': 'CENPT', 'score': 14.53}, {'connected_gene': 'KIAA0895L', 'score': 13.79}, {'connected_gene': 'RNU6-359P', 'score': 12.27}, {'connected_gene': 'SLC12A4', 'score': 12.07}, {'connected_gene': 'LCAT', 'score': 11.99}, {'connected_gene': 'ENSG00000263276', 'score': 11.88}, {'connected_gene': 'DPEP2', 'score': 11.87}, {'connected_gene': 'DUS2', 'score': 11.51}, {'connected_gene': 'CTCF', 'score': 10.97}, {'connected_gene': 'PLEKHG4', 'score': 10.91}, {'connected_gene': 'ENSG00000260891', 'score': 10.24}, {'connected_gene': 'NFATC3', 'score': 10.18}, {'connected_gene': 'PARD6A', 'score': 9.19}, {'connected_gene': 'PSMB10', 'score': 6.39}]
chr16 GH16I067983 67983402 67985714 1.15 [{'connected_gene': 'LCAT', 'score': 12.61}, {'connected_gene': 'DDX28', 'score': 11.35}, {'connected_gene': 'RNU6-359P', 'score': 11.22}, {'connected_gene': 'PRMT7', 'score': 10.36}, {'connected_gene': 'PARD6A', 'score': 9.43}, {'connected_gene': 'ACD', 'score': 9.43}, {'connected_gene': 'RANBP10', 'score': 9.34}, {'connected_gene': 'DPEP2', 'score': 9.32}, {'connected_gene': 'DPEP3', 'score': 0.77}, {'connected_gene': 'DUS2', 'score': 0.77}]
chr16 GH16I067942 67942178 67945459 1.63 [{'connected_gene': 'LCAT', 'score': 550.77}, {'connected_gene': 'GC16M067943', 'score': 550.77}, {'connected_gene': 'DUS2', 'score': 21.3}, {'connected_gene': 'DPEP3', 'score': 11.74}, {'connected_gene': 'RNU6-359P', 'score': 11.45}, {'connected_gene': 'PSKH1', 'score': 11.03}, {'connected_gene': 'C16orf86', 'score': 11.01}, {'connected_gene': 'ENKD1', 'score': 11.01}, {'connected_gene': 'NRN1L', 'score': 10.76}, {'connected_gene': 'CENPT', 'score': 10.56}, {'connected_gene': 'THAP11', 'score': 10.55}, {'connected_gene': 'NFATC3', 'score': 10.22}, {'connected_gene': 'PARD6A', 'score': 9.85}, {'connected_gene': 'ACD', 'score': 9.85}, {'connected_gene': 'DPEP2', 'score': 9.03}, {'connected_gene': 'HSD11B2', 'score': 3.95}, {'connected_gene': 'PSMB10', 'score': 0.44}, {'connected_gene': 'SLC12A4', 'score': 0.31}]
chr16 GH16I067933 67933920 67934196 0.43 [{'connected_gene': 'CTRL', 'score': 550.77}, {'connected_gene': 'ENSG00000261884', 'score': 550.77}, {'connected_gene': 'DPEP3', 'score': 11.75}, {'connected_gene': 'NRN1L', 'score': 11.55}, {'connected_gene': 'PSKH1', 'score': 11.42}, {'connected_gene': 'EDC4', 'score': 11.31}, {'connected_gene': 'NFATC3', 'score': 10.46}, {'connected_gene': 'LCAT', 'score': 10.16}]
chr16 GH16I068004 68004444 68007347 1.39 [{'connected_gene': 'KARSP3', 'score': 550.77}, {'connected_gene': 'DPEP2', 'score': 28.25}, {'connected_gene': 'NFATC3', 'score': 22.32}, {'connected_gene': 'DPEP3', 'score': 11.71}, {'connected_gene': 'PSMB10', 'score': 11.62}, {'connected_gene': 'PRMT7', 'score': 10.93}, {'connected_gene': 'ACD', 'score': 9.43}, {'connected_gene': 'PARD6A', 'score': 9.43}, {'connected_gene': 'LCAT', 'score': 9.4}, {'connected_gene': 'DDX28', 'score': 6.0}, {'connected_gene': 'RANBP10', 'score': 2.43}, {'connected_gene': 'SLC7A6OS', 'score': 1.27}, {'connected_gene': 'DPEP2NB', 'score': 0.39}, {'connected_gene': 'DUS2', 'score': 0.37}]
chr16 GH16I067934 67934255 67938278 2.28 [{'connected_gene': 'GC16P067936', 'score': 550.77}, {'connected_gene': 'ENSG00000261884', 'score': 550.77}, {'connected_gene': 'PSMB10', 'score': 550.77}, {'connected_gene': 'EDC4', 'score': 36.28}, {'connected_gene': 'E2F4', 'score': 24.21}, {'connected_gene': 'NFATC3', 'score': 23.04}, {'connected_gene': 'RANBP10', 'score': 22.9}, {'connected_gene': 'ENSG00000263276', 'score': 19.22}, {'connected_gene': 'ENSG00000260891', 'score': 18.74}, {'connected_gene': 'ENSG00000270165', 'score': 15.59}, {'connected_gene': 'CTCF', 'score': 14.79}, {'connected_gene': 'CENPT', 'score': 13.56}, {'connected_gene': 'FBXL8', 'score': 12.28}, {'connected_gene': 'DPEP3', 'score': 11.77}, {'connected_gene': 'NRN1L', 'score': 11.53}, {'connected_gene': 'PSKH1', 'score': 11.42}, {'connected_gene': 'DUS2', 'score': 11.3}, {'connected_gene': 'LCAT', 'score': 10.76}, {'connected_gene': 'DPEP2', 'score': 5.65}, {'connected_gene': 'HSD11B2', 'score': 3.94}]
chr16 GH16I067503 67503214 67505904 1.33 [{'connected_gene': 'GC16M067502', 'score': 550.77}, {'connected_gene': 'ZDHHC1', 'score': 27.6}, {'connected_gene': 'HSD11B2', 'score': 25.74}, {'connected_gene': 'ATP6V0D1', 'score': 23.9}, {'connected_gene': 'ENSG00000260465', 'score': 15.27}, {'connected_gene': 'CTCF', 'score': 12.41}, {'connected_gene': 'ENKD1', 'score': 11.97}, {'connected_gene': 'AGRP', 'score': 11.61}, {'connected_gene': 'CENPT', 'score': 11.23}, {'connected_gene': 'CARMIL2', 'score': 11.06}, {'connected_gene': 'NAE1', 'score': 10.98}, {'connected_gene': 'PARD6A', 'score': 10.81}, {'connected_gene': 'ACD', 'score': 10.81}, {'connected_gene': 'ENSG00000237718', 'score': 10.45}, {'connected_gene': 'EDC4', 'score': 10.39}, {'connected_gene': 'SLC7A6OS', 'score': 10.09}, {'connected_gene': 'FBXL8', 'score': 9.91}, {'connected_gene': 'LCAT', 'score': 9.81}, {'connected_gene': 'LRRC36', 'score': 9.59}, {'connected_gene': 'DPEP2', 'score': 8.01}, {'connected_gene': 'RIPOR1', 'score': 0.39}, {'connected_gene': 'LOC101927837', 'score': 0.34}]

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