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
ENST00000358514 [[67968404, 67968574], [67968699, 67968851], [67969322, 67969381], [67969484, 67969600], [67969865, 67970006], [67970117, 67970215], [67970300, 67970388], [67970596, 67970990]] [[67968462, 67968574], [67968699, 67968851], [67969322, 67969381], [67969484, 67969600], [67969865, 67970006], [67970117, 67970215], [67970300, 67970388], [67970596, 67970652]]
ENST00000570985 [[67968408, 67968574], [67968699, 67968851], [67969322, 67969381], [67969484, 67969698]] None
ENST00000574576 [[67968408, 67968597], [67968699, 67968851], [67969322, 67969381], [67969484, 67969600], [67969865, 67969888]] [[67968530, 67968597], [67968699, 67968851], [67969322, 67969381], [67969484, 67969600], [67969865, 67969888]]
ENST00000570304 [[67969230, 67969600], [67969865, 67970006], [67970117, 67970215], [67970300, 67970388], [67970596, 67970750]] None
ENST00000575556 [[67969451, 67969600], [67969865, 67970215], [67970300, 67970767]] None
NM_002801 [[67968406, 67968574], [67968699, 67968851], [67969322, 67969381], [67969484, 67969600], [67969865, 67970006], [67970117, 67970215], [67970300, 67970388], [67970596, 67970780]] [[67968462, 67968574], [67968699, 67968851], [67969322, 67969381], [67969484, 67969600], [67969865, 67970006], [67970117, 67970215], [67970300, 67970388], [67970596, 67970652]]
Promoter
Chrom Start End Description
chr16 67970711 67970770 CAGE_peak_1_at_PSMB10_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 GH16I068267 68267235 68277908 2.07 [{'connected_gene': 'SLC7A6', 'score': 584.2}, {'connected_gene': 'PRMT7', 'score': 34.08}, {'connected_gene': 'ZFP90', 'score': 22.99}, {'connected_gene': 'ACD', 'score': 19.25}, {'connected_gene': 'ENKD1', 'score': 10.31}, {'connected_gene': 'ZDHHC1', 'score': 10.08}, {'connected_gene': 'C16orf86', 'score': 10.05}, {'connected_gene': 'DPEP2', 'score': 6.85}, {'connected_gene': 'NFATC3', 'score': 5.85}, {'connected_gene': 'THAP11', 'score': 4.44}, {'connected_gene': 'SLC7A6OS', 'score': 3.61}, {'connected_gene': 'PSMB10', 'score': 2.94}, {'connected_gene': 'EDC4', 'score': 1.97}, {'connected_gene': 'RANBP10', 'score': 1.64}, {'connected_gene': 'RNU6-1262P', 'score': 0.39}]
chr16 GH16I068414 68414946 68419536 1.25 [{'connected_gene': 'SLC7A6OS', 'score': 12.1}, {'connected_gene': 'SMPD3', 'score': 11.8}, {'connected_gene': 'ZFP90', 'score': 10.9}, {'connected_gene': 'PRMT7', 'score': 10.52}, {'connected_gene': 'RNU4-36P', 'score': 10.37}, {'connected_gene': 'UTP4', 'score': 5.09}, {'connected_gene': 'CDH1', 'score': 4.32}, {'connected_gene': 'NFATC3', 'score': 3.13}, {'connected_gene': 'PSMB10', 'score': 2.95}, {'connected_gene': 'DPEP2', 'score': 2.87}, {'connected_gene': 'TANGO6', 'score': 2.78}, {'connected_gene': 'SLC7A6', 'score': 2.23}, {'connected_gene': 'GC16M068393', 'score': 0.34}]
chr16 GH16I067527 67527850 67532282 2.48 [{'connected_gene': 'RIPOR1', 'score': 554.95}, {'connected_gene': 'LOC100505942', 'score': 550.77}, {'connected_gene': 'ZDHHC1', 'score': 21.48}, {'connected_gene': 'NAE1', 'score': 20.42}, {'connected_gene': 'ENKD1', 'score': 20.01}, {'connected_gene': 'C16orf70', 'score': 15.81}, {'connected_gene': 'KIAA0895L', 'score': 14.38}, {'connected_gene': 'ACD', 'score': 13.91}, {'connected_gene': 'ATP6V0D1', 'score': 13.76}, {'connected_gene': 'EDC4', 'score': 12.03}, {'connected_gene': 'PRMT7', 'score': 11.02}, {'connected_gene': 'CENPT', 'score': 10.77}, {'connected_gene': 'SLC7A6OS', 'score': 10.07}, {'connected_gene': 'PSMB10', 'score': 5.71}, {'connected_gene': 'LRRC29', 'score': 4.05}, {'connected_gene': 'DPEP2', 'score': 3.97}, {'connected_gene': 'FHOD1', 'score': 3.25}, {'connected_gene': 'TPPP3', 'score': 2.38}, {'connected_gene': 'DDX28', 'score': 1.68}, {'connected_gene': 'HSF4', 'score': 1.35}, {'connected_gene': 'SLC9A5', 'score': 1.18}, {'connected_gene': 'ENSG00000261396', 'score': 0.39}]
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 GH16I068279 68279710 68293211 1.74 [{'connected_gene': 'PRMT7', 'score': 44.55}, {'connected_gene': 'SLC7A6', 'score': 34.41}, {'connected_gene': 'NFATC3', 'score': 20.06}, {'connected_gene': 'SLC7A6OS', 'score': 16.27}, {'connected_gene': 'RNU4-30P', 'score': 10.85}, {'connected_gene': 'DUS2', 'score': 10.58}, {'connected_gene': 'RANBP10', 'score': 9.94}, {'connected_gene': 'DPEP2', 'score': 6.39}, {'connected_gene': 'PSMB10', 'score': 5.26}, {'connected_gene': 'LRRC36', 'score': 4.23}, {'connected_gene': 'THAP11', 'score': 3.43}, {'connected_gene': 'SMPD3', 'score': 2.58}, {'connected_gene': 'ZFP90', 'score': 1.63}, {'connected_gene': 'EDC4', 'score': 1.57}, {'connected_gene': 'RNU6-1262P', 'score': 0.77}, {'connected_gene': 'ENSG00000279649', 'score': 0.44}]
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 GH16I068077 68077704 68093658 2.8 [{'connected_gene': 'NFATC3', 'score': 560.39}, {'connected_gene': 'GC16M068083', 'score': 550.77}, {'connected_gene': 'PRMT7', 'score': 23.44}, {'connected_gene': 'CTCF', 'score': 20.8}, {'connected_gene': 'EDC4', 'score': 20.32}, {'connected_gene': 'TRADD', 'score': 18.05}, {'connected_gene': 'ZDHHC1', 'score': 17.91}, {'connected_gene': 'DPEP2', 'score': 15.43}, {'connected_gene': 'DUS2', 'score': 13.4}, {'connected_gene': 'E2F4', 'score': 11.72}, {'connected_gene': 'SLC7A6OS', 'score': 11.19}, {'connected_gene': 'ENSG00000212445', 'score': 10.78}, {'connected_gene': 'PLEKHG4', 'score': 10.68}, {'connected_gene': 'SLC7A6', 'score': 10.47}, {'connected_gene': 'DPEP3', 'score': 10.11}, {'connected_gene': 'ENKD1', 'score': 10.04}, {'connected_gene': 'CENPT', 'score': 10.04}, {'connected_gene': 'THAP11', 'score': 9.94}, {'connected_gene': 'PSKH1', 'score': 9.92}, {'connected_gene': 'PARD6A', 'score': 9.74}, {'connected_gene': 'ACD', 'score': 9.74}, {'connected_gene': 'TSNAXIP1', 'score': 5.71}, {'connected_gene': 'FHOD1', 'score': 4.86}, {'connected_gene': 'RANBP10', 'score': 3.91}, {'connected_gene': 'PSMB10', 'score': 3.3}, {'connected_gene': 'CARMIL2', 'score': 1.27}, {'connected_gene': 'ENSG00000201850', 'score': 0.77}, {'connected_gene': 'GC16M068090', 'score': 0.77}, {'connected_gene': 'ENSG00000261864', 'score': 0.44}]
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 GH16I067276 67276409 67280279 2.06 [{'connected_gene': 'PLEKHG4', 'score': 550.77}, {'connected_gene': 'EDC4', 'score': 21.56}, {'connected_gene': 'ACD', 'score': 12.73}, {'connected_gene': 'LRRC36', 'score': 12.54}, {'connected_gene': 'CENPT', 'score': 11.33}, {'connected_gene': 'CTCF', 'score': 11.05}, {'connected_gene': 'THAP11', 'score': 10.68}, {'connected_gene': 'E2F4', 'score': 10.56}, {'connected_gene': 'TSNAXIP1', 'score': 7.3}, {'connected_gene': 'RANBP10', 'score': 5.91}, {'connected_gene': 'ENSG00000260465', 'score': 5.65}, {'connected_gene': 'PSMB10', 'score': 5.08}, {'connected_gene': 'ATP6V0D1', 'score': 4.11}, {'connected_gene': 'GC16M067286', 'score': 0.44}]
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 GH16I067854 67854951 67859399 1.48 [{'connected_gene': 'ENSG00000262141', 'score': 550.77}, {'connected_gene': 'RANBP10', 'score': 22.16}, {'connected_gene': 'ACD', 'score': 16.33}, {'connected_gene': 'NRN1L', 'score': 11.66}, {'connected_gene': 'TSNAXIP1', 'score': 11.22}, {'connected_gene': 'DUS2', 'score': 11.18}, {'connected_gene': 'PSKH1', 'score': 11.1}, {'connected_gene': 'PARD6A', 'score': 10.26}, {'connected_gene': 'RIPOR1', 'score': 10.01}, {'connected_gene': 'PRMT7', 'score': 9.98}, {'connected_gene': 'SLC7A6', 'score': 3.88}, {'connected_gene': 'TPPP3', 'score': 3.75}, {'connected_gene': 'EDC4', 'score': 2.28}, {'connected_gene': 'THAP11', 'score': 2.01}, {'connected_gene': 'NFATC3', 'score': 1.66}, {'connected_gene': 'PSMB10', 'score': 1.4}, {'connected_gene': 'CARMIL2', 'score': 1.28}, {'connected_gene': 'NUTF2', 'score': 0.39}, {'connected_gene': 'GC16P067869', 'score': 0.39}]
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}]

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