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
ENST00000409843 [[189156395, 189156893], [189248489, 189248616], [189342385, 189342457], [189348157, 189348219], [189387482, 189387554], [189393823, 189393922], [189405907, 189406045], [189433965, 189434082], [189434754, 189434847], [189448991, 189449130], [189452581, 189452676], [189454466, 189454477], [189458666, 189459786]] [[189342429, 189342457], [189348157, 189348219], [189387482, 189387554], [189393823, 189393922], [189405907, 189406045], [189433965, 189434082], [189434754, 189434847], [189448991, 189449130], [189452581, 189452676], [189454466, 189454477], [189458666, 189458688]]
ENST00000409830 [[189156603, 189156893], [189248489, 189248616], [189342385, 189342457], [189348157, 189348219], [189387482, 189387554], [189393823, 189393922], [189405907, 189406045], [189433965, 189434082], [189434754, 189434847], [189448991, 189449130], [189452581, 189452676], [189458666, 189458738]] [[189342429, 189342457], [189348157, 189348219], [189387482, 189387554], [189393823, 189393922], [189405907, 189406045], [189433965, 189434082], [189434754, 189434847], [189448991, 189449130], [189452581, 189452676], [189458666, 189458738]]
ENST00000410051 [[189156672, 189156893], [189248489, 189248616], [189342385, 189342457], [189348157, 189348219], [189387482, 189387554], [189393823, 189393922], [189405907, 189406849]] [[189342429, 189342457], [189348157, 189348219], [189387482, 189387554], [189393823, 189393922], [189405907, 189406150]]
ENST00000479019 [[189156689, 189156893], [189248489, 189248616], [189331201, 189331295], [189342385, 189342457], [189348157, 189348219], [189356162, 189356321], [189387482, 189387554], [189393823, 189393922], [189405907, 189406044]] None
ENST00000409927 [[189156740, 189156946], [189248489, 189248616], [189342385, 189342457], [189348157, 189348219], [189387482, 189387554], [189393823, 189393867]] [[189342429, 189342457], [189348157, 189348219], [189387482, 189387554], [189393823, 189393867]]
ENST00000409805 [[189156766, 189156893], [189248489, 189248616], [189342385, 189342457], [189348157, 189348219], [189433965, 189434082], [189434754, 189434847], [189448991, 189449130], [189452581, 189452676], [189458666, 189458817]] [[189342429, 189342457], [189348157, 189348219], [189433965, 189434082], [189434754, 189434847], [189448991, 189449130], [189452581, 189452676], [189458666, 189458738]]
ENST00000359135 [[189157498, 189157839], [189248489, 189248616], [189342385, 189342457], [189348157, 189348219], [189387482, 189387554], [189393823, 189393922], [189405907, 189406045], [189433965, 189434082], [189434754, 189434847], [189448991, 189449130], [189452581, 189452676], [189458666, 189460653]] [[189342429, 189342457], [189348157, 189348219], [189387482, 189387554], [189393823, 189393922], [189405907, 189406045], [189433965, 189434082], [189434754, 189434847], [189448991, 189449130], [189452581, 189452676], [189458666, 189458738]]
ENST00000409580 [[189157558, 189157907], [189158926, 189159120], [189248489, 189248616], [189342385, 189342457], [189348157, 189348219], [189387482, 189387554], [189393823, 189393922], [189405907, 189406045], [189433965, 189434082], [189434754, 189434847], [189448991, 189449130], [189452581, 189452676], [189458666, 189460653]] [[189342429, 189342457], [189348157, 189348219], [189387482, 189387554], [189393823, 189393922], [189405907, 189406045], [189433965, 189434082], [189434754, 189434847], [189448991, 189449130], [189452581, 189452676], [189458666, 189458738]]
ENST00000409637 [[189157565, 189157839], [189248489, 189248616], [189342385, 189342457], [189348157, 189348219], [189387482, 189387554], [189393823, 189393922], [189405907, 189406443]] [[189342429, 189342457], [189348157, 189348219], [189387482, 189387554], [189393823, 189393922], [189405907, 189406150]]
ENST00000409609 [[189158544, 189159120], [189248489, 189248616], [189342385, 189342457], [189348157, 189348219], [189387482, 189387554], [189393823, 189393922], [189405907, 189406045], [189433965, 189434082], [189434754, 189434847], [189448991, 189449130], [189452581, 189452676], [189458666, 189459008]] [[189342429, 189342457], [189348157, 189348219], [189387482, 189387554], [189393823, 189393922], [189405907, 189406045], [189433965, 189434082], [189434754, 189434847], [189448991, 189449130], [189452581, 189452676], [189458666, 189458738]]
ENST00000476422 [[189387464, 189387554], [189393823, 189393922], [189405907, 189406045], [189433965, 189434082], [189434754, 189434847], [189448991, 189449036]] None
ENST00000467422 [[189387494, 189387649], [189393823, 189393922], [189433965, 189434082], [189434754, 189434847], [189448991, 189449114]] None
ENST00000495745 [[189393898, 189393922], [189405907, 189406045], [189433965, 189434082], [189434754, 189434847], [189448991, 189449130], [189452581, 189452676], [189453377, 189453428]] None
ENST00000486445 [[189156433, 189156893], [189158926, 189159005]] None
ENST00000478306 [[189434318, 189434370], [189434754, 189434847], [189448991, 189449130], [189452581, 189452676], [189458666, 189459048]] None
ENST00000451191 [[189434764, 189434847], [189448991, 189449130], [189452581, 189459786]] [[189434764, 189434847], [189448991, 189449130], [189452581, 189452802]]
ENST00000433052 [[189434809, 189434847], [189447067, 189447292], [189448991, 189449130], [189452581, 189452676], [189458666, 189458936]] [[189434809, 189434847], [189447067, 189447292], [189448991, 189449130], [189452581, 189452676], [189458666, 189458738]]
ENST00000496976 [[189454317, 189454477], [189458666, 189459095]] None
NM_001252669 [[189156395, 189156893], [189248489, 189248616], [189342385, 189342457], [189348157, 189348219], [189433965, 189434082], [189434754, 189434847], [189448991, 189449130], [189452581, 189452676], [189458666, 189460653]] [[189342429, 189342457], [189348157, 189348219], [189433965, 189434082], [189434754, 189434847], [189448991, 189449130], [189452581, 189452676], [189458666, 189458738]]
NM_016315 [[189156395, 189156893], [189248489, 189248616], [189342385, 189342457], [189348157, 189348219], [189387482, 189387554], [189393823, 189393922], [189405907, 189406045], [189433965, 189434082], [189434754, 189434847], [189448991, 189449130], [189452581, 189452676], [189458666, 189460653]] [[189342429, 189342457], [189348157, 189348219], [189387482, 189387554], [189393823, 189393922], [189405907, 189406045], [189433965, 189434082], [189434754, 189434847], [189448991, 189449130], [189452581, 189452676], [189458666, 189458738]]
NM_001252668 [[189156395, 189156893], [189248489, 189248616], [189342385, 189342457], [189348157, 189348219], [189387482, 189387554], [189393823, 189393922], [189405907, 189406045], [189433965, 189434082], [189434754, 189434847], [189448991, 189449130], [189452581, 189452676], [189454466, 189454477], [189458666, 189460653]] [[189342429, 189342457], [189348157, 189348219], [189387482, 189387554], [189393823, 189393922], [189405907, 189406045], [189433965, 189434082], [189434754, 189434847], [189448991, 189449130], [189452581, 189452676], [189454466, 189454477], [189458666, 189458688]]
NR_045562 [[189157389, 189157839], [189248489, 189248616], [189342385, 189342457], [189348157, 189348219], [189387482, 189387554], [189393823, 189393922], [189405907, 189406045], [189433965, 189434082], [189434754, 189434847], [189448991, 189449130], [189452581, 189452676], [189458666, 189460653]] None
NR_045563 [[189157389, 189157907], [189158926, 189159120], [189248489, 189248616], [189342385, 189342457], [189348157, 189348219], [189387482, 189387554], [189393823, 189393922], [189405907, 189406045], [189433965, 189434082], [189434754, 189434847], [189448991, 189449130], [189452581, 189452676], [189458666, 189460653]] None
Promoter
Chrom Start End Description
chr2 189156389 189156405 CAGE_peak_7_at_GULP1_5end
chr2 189156408 189156485 CAGE_peak_4_at_GULP1_5end
chr2 189156586 189156636 CAGE_peak_2_at_GULP1_5end
chr2 189156638 189156667 CAGE_peak_3_at_GULP1_5end
chr2 189156721 189156792 CAGE_peak_5_at_GULP1_5end
chr2 189157498 189157510 CAGE_peak_8_at_GULP1_5end
chr2 189157512 189157527 CAGE_peak_6_at_GULP1_5end
chr2 189157536 189157565 CAGE_peak_1_at_GULP1_5end
chr2 189157571 189157576 CAGE_peak_13_at_GULP1_5end
chr2 189157579 189157590 CAGE_peak_9_at_GULP1_5end
chr2 189157647 189157656 CAGE_peak_12_at_GULP1_5end
chr2 189157781 189157803 CAGE_peak_10_at_GULP1_5end
chr2 189158840 189158863 CAGE_peak_17_at_GULP1_5end
chr2 189159028 189159031 CAGE_peak_36_at_GULP1_5end
chr2 189387474 189387512 CAGE_peak_11_at_GULP1_5end
chr2 189434296 189434299 CAGE_peak_32_at_GULP1_5end
chr2 189434311 189434329 CAGE_peak_15_at_GULP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I188317 188317778 188318184 0.63 [{'connected_gene': 'MIR561', 'score': 11.3}, {'connected_gene': 'GULP1', 'score': 11.27}, {'connected_gene': 'LINC01090', 'score': 11.17}, {'connected_gene': 'DIRC1', 'score': 4.57}, {'connected_gene': 'GC02P188298', 'score': 0.34}]
chr2 GH02I188318 188318459 188320571 0.72 [{'connected_gene': 'MIR561', 'score': 11.93}, {'connected_gene': 'GULP1', 'score': 11.55}, {'connected_gene': 'LINC01090', 'score': 11.44}, {'connected_gene': 'GC02P188298', 'score': 0.34}]
chr2 GH02I188369 188369474 188369623 0.56 [{'connected_gene': 'MIR561', 'score': 10.86}, {'connected_gene': 'GULP1', 'score': 10.86}, {'connected_gene': 'LINC01090', 'score': 0.39}, {'connected_gene': 'GC02P188298', 'score': 0.19}]
chr2 GH02I188326 188326374 188327421 1.04 [{'connected_gene': 'MIR561', 'score': 11.49}, {'connected_gene': 'GULP1', 'score': 11.46}, {'connected_gene': 'LINC01090', 'score': 11.4}, {'connected_gene': 'GC02P188298', 'score': 0.31}]
chr2 GH02I188333 188333794 188334201 0.58 [{'connected_gene': 'MIR561', 'score': 11.31}, {'connected_gene': 'GULP1', 'score': 11.29}, {'connected_gene': 'LINC01090', 'score': 11.26}, {'connected_gene': 'GC02P188298', 'score': 0.28}]
chr2 GH02I188031 188031913 188035560 0.63 [{'connected_gene': 'GULP1', 'score': 4.4}, {'connected_gene': 'LOC729141', 'score': 0.08}, {'connected_gene': 'GC02P187827', 'score': 0.08}, {'connected_gene': 'GC02P187829', 'score': 0.08}, {'connected_gene': 'PIR31110', 'score': 0.08}, {'connected_gene': 'GC02P187828', 'score': 0.08}, {'connected_gene': 'LINC01090', 'score': 0.05}]
chr2 GH02I188218 188218113 188218322 0.2 [{'connected_gene': 'GULP1', 'score': 11.34}, {'connected_gene': 'MIR561', 'score': 11.33}, {'connected_gene': 'LINC01090', 'score': 11.24}, {'connected_gene': 'LOC729141', 'score': 0.44}, {'connected_gene': 'GC02P187827', 'score': 0.05}, {'connected_gene': 'GC02P187829', 'score': 0.05}, {'connected_gene': 'PIR31110', 'score': 0.05}, {'connected_gene': 'GC02P187828', 'score': 0.05}]
chr2 GH02I188217 188217854 188218023 0.2 [{'connected_gene': 'GULP1', 'score': 11.34}, {'connected_gene': 'MIR561', 'score': 11.33}, {'connected_gene': 'LINC01090', 'score': 11.24}, {'connected_gene': 'LOC729141', 'score': 0.44}, {'connected_gene': 'GC02P187827', 'score': 0.05}, {'connected_gene': 'GC02P187829', 'score': 0.05}, {'connected_gene': 'PIR31110', 'score': 0.05}, {'connected_gene': 'GC02P187828', 'score': 0.05}]
chr2 GH02I188141 188141896 188143687 0.56 [{'connected_gene': 'GULP1', 'score': 14.53}, {'connected_gene': 'MIR561', 'score': 10.5}, {'connected_gene': 'LINC01090', 'score': 10.46}, {'connected_gene': 'LOC729141', 'score': 0.18}, {'connected_gene': 'GC02P187827', 'score': 0.06}, {'connected_gene': 'GC02P187829', 'score': 0.06}, {'connected_gene': 'PIR31110', 'score': 0.06}, {'connected_gene': 'GC02P187828', 'score': 0.06}]
chr2 GH02I188198 188198929 188200665 0.76 [{'connected_gene': 'GULP1', 'score': 10.73}, {'connected_gene': 'MIR561', 'score': 10.72}, {'connected_gene': 'LINC01090', 'score': 10.66}, {'connected_gene': 'LOC729141', 'score': 0.31}, {'connected_gene': 'GC02P187827', 'score': 0.05}, {'connected_gene': 'GC02P187829', 'score': 0.05}, {'connected_gene': 'PIR31110', 'score': 0.05}, {'connected_gene': 'GC02P187828', 'score': 0.05}]
chr2 GH02I188321 188321226 188324457 0.86 [{'connected_gene': 'GULP1', 'score': 21.11}, {'connected_gene': 'MIR561', 'score': 11.87}, {'connected_gene': 'LINC01090', 'score': 11.77}, {'connected_gene': 'GC02P188298', 'score': 0.31}]
chr2 GH02I188334 188333494 188333643 0.2 [{'connected_gene': 'GULP1', 'score': 16.41}, {'connected_gene': 'MIR561', 'score': 11.31}, {'connected_gene': 'LINC01090', 'score': 11.26}, {'connected_gene': 'GC02P188298', 'score': 0.28}]
chr2 GH02I188289 188289683 188297784 2.59 [{'connected_gene': 'GULP1', 'score': 562.12}, {'connected_gene': 'DIRC1', 'score': 4.46}, {'connected_gene': 'GC02P188299', 'score': 0.77}, {'connected_gene': 'MIR561', 'score': 0.77}, {'connected_gene': 'GC02P188298', 'score': 0.77}, {'connected_gene': 'LINC01090', 'score': 0.16}]
chr2 GH02I188852 188852150 188854484 0.43 [{'connected_gene': 'GULP1', 'score': 7.42}, {'connected_gene': 'DIRC1', 'score': 7.32}, {'connected_gene': 'ENSG00000223523', 'score': 0.39}, {'connected_gene': 'COL3A1', 'score': 0.13}]
chr2 GH02I188526 188526265 188528776 0.62 [{'connected_gene': 'GULP1', 'score': 1.6}, {'connected_gene': 'LOC105373790', 'score': 0.12}, {'connected_gene': 'LINC01090', 'score': 0.11}]
chr2 GH02I188314 188314118 188317378 1.06 [{'connected_gene': 'GULP1', 'score': 23.64}, {'connected_gene': 'LINC01090', 'score': 11.65}, {'connected_gene': 'GC02P188298', 'score': 0.37}]
chr2 GH02I188301 188301183 188302065 0.31 [{'connected_gene': 'GULP1', 'score': 9.47}, {'connected_gene': 'GC02P188298', 'score': 0.77}, {'connected_gene': 'LINC01090', 'score': 0.18}]
chr2 GH02I188380 188380634 188383794 0.72 [{'connected_gene': 'GULP1', 'score': 11.6}, {'connected_gene': 'LINC01090', 'score': 0.77}, {'connected_gene': 'GC02P188298', 'score': 0.18}]
chr2 GH02I188302 188302569 188306159 1.06 [{'connected_gene': 'GULP1', 'score': 11.81}, {'connected_gene': 'GC02P188298', 'score': 0.44}, {'connected_gene': 'LINC01090', 'score': 0.18}]
chr2 GH02I188278 188278468 188279560 0.6 [{'connected_gene': 'GULP1', 'score': 4.46}, {'connected_gene': 'RNA5SP114', 'score': 0.77}, {'connected_gene': 'GC02M188277', 'score': 0.77}, {'connected_gene': 'LINC01090', 'score': 0.14}]
chr2 GH02I188279 188279666 188280421 0.2 [{'connected_gene': 'GULP1', 'score': 5.82}, {'connected_gene': 'RNA5SP114', 'score': 0.77}, {'connected_gene': 'GC02M188277', 'score': 0.77}, {'connected_gene': 'LINC01090', 'score': 0.15}]
chr2 GH02I188628 188628424 188631300 0.76 [{'connected_gene': 'DIRC1', 'score': 5.37}, {'connected_gene': 'GULP1', 'score': 4.52}, {'connected_gene': 'LOC105373790', 'score': 0.28}, {'connected_gene': 'ENSG00000223523', 'score': 0.08}, {'connected_gene': 'LINC01090', 'score': 0.07}]
chr2 GH02I188285 188285154 188286025 0.46 [{'connected_gene': 'DIRC1', 'score': 6.21}, {'connected_gene': 'COL3A1', 'score': 4.83}, {'connected_gene': 'RNA5SP114', 'score': 0.44}, {'connected_gene': 'GULP1', 'score': 0.44}, {'connected_gene': 'GC02M188277', 'score': 0.44}, {'connected_gene': 'LINC01090', 'score': 0.15}]
chr2 GH02I188475 188475756 188476568 0.59 [{'connected_gene': 'LINC01090', 'score': 0.16}, {'connected_gene': 'GULP1', 'score': 0.09}, {'connected_gene': 'LOC105373790', 'score': 0.08}]
chr2 GH02I188454 188454564 188456991 0.49 [{'connected_gene': 'LINC01090', 'score': 0.19}, {'connected_gene': 'GULP1', 'score': 0.1}, {'connected_gene': 'LOC105373790', 'score': 0.08}]
chr2 GH02I188518 188518399 188518818 0.2 [{'connected_gene': 'LINC01090', 'score': 0.12}, {'connected_gene': 'LOC105373790', 'score': 0.11}, {'connected_gene': 'GULP1', 'score': 0.07}]
chr2 GH02I188496 188496114 188496263 0.72 [{'connected_gene': 'LINC01090', 'score': 0.14}, {'connected_gene': 'LOC105373790', 'score': 0.09}, {'connected_gene': 'GULP1', 'score': 0.08}]
chr2 GH02I188275 188275656 188276919 0.63 [{'connected_gene': 'RNA5SP114', 'score': 550.77}, {'connected_gene': 'GC02M188277', 'score': 550.77}, {'connected_gene': 'DIRC1', 'score': 5.5}, {'connected_gene': 'GULP1', 'score': 5.47}, {'connected_gene': 'LOC729141', 'score': 0.25}, {'connected_gene': 'LINC01090', 'score': 0.14}]
chr2 GH02I188297 188297966 188299970 0.98 [{'connected_gene': 'GC02P188299', 'score': 550.77}, {'connected_gene': 'MIR561', 'score': 550.77}, {'connected_gene': 'GC02P188298', 'score': 550.77}, {'connected_gene': 'GULP1', 'score': 9.59}, {'connected_gene': 'LINC01090', 'score': 0.17}]

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