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
ENST00000455784 [[19701986, 19702154], [19702303, 19702314], [19707124, 19707221], [19707328, 19707415], [19707637, 19707761], [19707842, 19707977], [19708071, 19708189], [19708290, 19708392], [19709162, 19709259], [19709344, 19709480], [19709759, 19709862], [19709950, 19710842]] [[19702111, 19702154], [19702303, 19702314], [19707124, 19707221], [19707328, 19707415], [19707637, 19707761], [19707842, 19707977], [19708071, 19708189], [19708290, 19708392], [19709162, 19709259], [19709344, 19709480], [19709759, 19709862], [19709950, 19710007]]
ENST00000406395 [[19702026, 19702154], [19702303, 19702314], [19707124, 19707221], [19707328, 19707415], [19707637, 19707761], [19707842, 19707977], [19708071, 19708189], [19708290, 19708392], [19709162, 19709259], [19709355, 19709480], [19709759, 19709862], [19709950, 19710797]] [[19702111, 19702154], [19702303, 19702314], [19707124, 19707221], [19707328, 19707415], [19707637, 19707761], [19707842, 19707977], [19708071, 19708189], [19708290, 19708392], [19709162, 19709259], [19709355, 19709480], [19709759, 19709834]]
ENST00000406172 [[19702051, 19702154], [19702303, 19702314], [19707124, 19707221], [19707328, 19707415], [19707637, 19707761], [19707842, 19707977], [19708071, 19708189], [19708290, 19708392], [19709344, 19709480], [19709759, 19710842]] [[19702111, 19702154], [19702303, 19702314], [19707124, 19707221], [19707328, 19707415], [19707637, 19707761], [19707842, 19707977], [19708071, 19708189], [19708290, 19708392], [19709344, 19709374]]
ENST00000412544 [[19702197, 19702314], [19707124, 19707221], [19707328, 19707415], [19707637, 19707761], [19707842, 19707977], [19708071, 19708189], [19708290, 19708392], [19709162, 19709259], [19709344, 19709480], [19709759, 19709854]] [[19707211, 19707221], [19707328, 19707415], [19707637, 19707761], [19707842, 19707977], [19708071, 19708189], [19708290, 19708392], [19709162, 19709259], [19709344, 19709480], [19709759, 19709854]]
ENST00000455843 [[19704742, 19706341], [19707124, 19707221], [19707328, 19707415], [19707637, 19707761], [19707842, 19707977], [19708071, 19708189], [19708290, 19708392], [19709162, 19709259], [19709344, 19709480], [19709759, 19709862], [19709950, 19711102], [19711376, 19711739]] [[19706260, 19706341], [19707124, 19707221], [19707328, 19707415], [19707637, 19707761], [19707842, 19707977], [19708071, 19708189], [19708290, 19708392], [19709162, 19709259], [19709344, 19709480], [19709759, 19709862], [19709950, 19710007]]
ENST00000431124 [[19704792, 19704968], [19707124, 19707221], [19707328, 19707415], [19707637, 19707761], [19707842, 19707977], [19708071, 19708189], [19708290, 19708392], [19709162, 19709243]] [[19704800, 19704968], [19707124, 19707221], [19707328, 19707415], [19707637, 19707761], [19707842, 19707977], [19708071, 19708189], [19708290, 19708392], [19709162, 19709243]]
ENST00000490204 [[19705681, 19706341], [19706464, 19706578]] None
ENST00000383045 [[19705954, 19706341], [19707124, 19707221], [19707328, 19707415], [19707637, 19707761], [19707842, 19707977], [19708071, 19708189], [19708290, 19708392], [19709162, 19709259], [19709344, 19709480], [19709759, 19709862], [19709950, 19710152]] [[19706260, 19706341], [19707124, 19707221], [19707328, 19707415], [19707637, 19707761], [19707842, 19707977], [19708071, 19708189], [19708290, 19708392], [19709162, 19709259], [19709344, 19709480], [19709759, 19709862], [19709950, 19710007]]
ENST00000438754 [[19705980, 19706341], [19707124, 19707221], [19707328, 19707415], [19707637, 19707761], [19707842, 19707977], [19708071, 19708189], [19708290, 19708392], [19709162, 19709259], [19709355, 19709480], [19709759, 19709862], [19709950, 19710842]] [[19706260, 19706341], [19707124, 19707221], [19707328, 19707415], [19707637, 19707761], [19707842, 19707977], [19708071, 19708189], [19708290, 19708392], [19709162, 19709259], [19709355, 19709480], [19709759, 19709834]]
ENST00000431044 [[19705991, 19706094], [19707124, 19707221], [19707328, 19707415], [19707637, 19707761], [19707842, 19707977], [19708071, 19708189], [19708290, 19708392], [19709162, 19709259], [19709344, 19709480], [19709759, 19709862], [19709950, 19711102], [19711376, 19712295]] [[19707211, 19707221], [19707328, 19707415], [19707637, 19707761], [19707842, 19707977], [19708071, 19708189], [19708290, 19708392], [19709162, 19709259], [19709344, 19709480], [19709759, 19709862], [19709950, 19710007]]
ENST00000395109 [[19706957, 19707221], [19707328, 19707415], [19707637, 19707761], [19707842, 19707977], [19708071, 19708189], [19708290, 19708356]] [[19707211, 19707221], [19707328, 19707415], [19707637, 19707761], [19707842, 19707977], [19708071, 19708189], [19708290, 19708356]]
ENST00000477238 [[19707052, 19707221], [19707328, 19707736]] None
ENST00000413258 [[19707710, 19707761], [19707842, 19707977], [19708164, 19708189], [19708290, 19708397]] [[19707710, 19707761], [19707842, 19707977], [19708164, 19708189], [19708290, 19708397]]
ENST00000480423 [[19707864, 19707977], [19708071, 19708189], [19708290, 19708392], [19709162, 19709392]] None
ENST00000470814 [[19708076, 19708189], [19708290, 19708392], [19709162, 19709259], [19709344, 19709862], [19709950, 19711102], [19711376, 19711747]] None
NM_002688 [[19701986, 19702154], [19702303, 19702314], [19707124, 19707221], [19707328, 19707415], [19707637, 19707761], [19707842, 19707977], [19708071, 19708189], [19708290, 19708392], [19709162, 19709259], [19709344, 19709480], [19709759, 19709862], [19709950, 19710845]] [[19702111, 19702154], [19702303, 19702314], [19707124, 19707221], [19707328, 19707415], [19707637, 19707761], [19707842, 19707977], [19708071, 19708189], [19708290, 19708392], [19709162, 19709259], [19709344, 19709480], [19709759, 19709862], [19709950, 19710007]]
NM_001009939 [[19705957, 19706341], [19707124, 19707221], [19707328, 19707415], [19707637, 19707761], [19707842, 19707977], [19708071, 19708189], [19708290, 19708392], [19709162, 19709259], [19709355, 19709480], [19709759, 19709862], [19709950, 19710845]] [[19706260, 19706341], [19707124, 19707221], [19707328, 19707415], [19707637, 19707761], [19707842, 19707977], [19708071, 19708189], [19708290, 19708392], [19709162, 19709259], [19709355, 19709480], [19709759, 19709834]]
Promoter
Chrom Start End Description
chr22 19701639 19701671 CAGE_peak_4_at_SEPT5_5end
chr22 19701958 19701969 CAGE_peak_5_at_SEPT5_5end
chr22 19701974 19701983 CAGE_peak_9_at_SEPT5_5end
chr22 19701985 19702063 CAGE_peak_2_at_SEPT5_5end
chr22 19702069 19702123 CAGE_peak_3_at_SEPT5_5end
chr22 19705928 19706048 CAGE_peak_1_at_SEPT5_5end
chr22 19707027 19707059 CAGE_peak_20_at_SEPT5_5end
chr22 19707138 19707153 CAGE_peak_11_at_SEPT5_5end
chr22 19707336 19707355 CAGE_peak_8_at_SEPT5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr22 GH22I019642 19642952 19645097 1.16 [{'connected_gene': 'DGCR8', 'score': 15.38}, {'connected_gene': 'LOC100420177', 'score': 14.29}, {'connected_gene': 'TRMT2A', 'score': 13.66}, {'connected_gene': 'SEPT5', 'score': 12.25}, {'connected_gene': 'GP1BB', 'score': 12.24}, {'connected_gene': 'LINC01311', 'score': 12.06}, {'connected_gene': 'RPL8P5', 'score': 10.88}, {'connected_gene': 'LOC100129254', 'score': 0.39}, {'connected_gene': 'LOC100420103', 'score': 0.37}]
chr22 GH22I019690 19690401 19690600 0.43 [{'connected_gene': 'SEPT5', 'score': 24.43}, {'connected_gene': 'DGCR8', 'score': 15.38}, {'connected_gene': 'LOC100420177', 'score': 14.29}, {'connected_gene': 'TRMT2A', 'score': 13.66}, {'connected_gene': 'GP1BB', 'score': 13.26}, {'connected_gene': 'LINC01311', 'score': 12.05}, {'connected_gene': 'RPL8P5', 'score': 10.89}, {'connected_gene': 'ENSG00000225007', 'score': 0.34}]
chr22 GH22I019691 19691207 19692567 1.13 [{'connected_gene': 'SEPT5', 'score': 24.46}, {'connected_gene': 'GP1BB', 'score': 13.26}, {'connected_gene': 'ABHD17AP4', 'score': 11.71}, {'connected_gene': 'ENSG00000225007', 'score': 0.34}]
chr22 GH22I019662 19662684 19664964 0.95 [{'connected_gene': 'SEPT5', 'score': 12.83}, {'connected_gene': 'GP1BB', 'score': 12.82}, {'connected_gene': 'LOC100420103', 'score': 0.77}, {'connected_gene': 'ENSG00000225007', 'score': 0.77}]
chr22 GH22I019687 19687201 19689000 0.91 [{'connected_gene': 'SEPT5', 'score': 24.25}, {'connected_gene': 'GP1BB', 'score': 13.26}, {'connected_gene': 'ENSG00000225007', 'score': 0.34}]
chr22 GH22I019714 19714000 19715001 1.71 [{'connected_gene': 'SEPT5', 'score': 550.77}, {'connected_gene': 'SEPT5-GP1BB', 'score': 0.77}]
chr22 GH22I019704 19704054 19704800 0.56 [{'connected_gene': 'SEPT5', 'score': 0.39}, {'connected_gene': 'ENSG00000225007', 'score': 0.28}]
chr22 GH22I019705 19705038 19706049 0.57 [{'connected_gene': 'SEPT5', 'score': 0.44}, {'connected_gene': 'ENSG00000225007', 'score': 0.28}]
chr22 GH22I019708 19708148 19708167 0.2 [{'connected_gene': 'SEPT5', 'score': 0.44}, {'connected_gene': 'ENSG00000225007', 'score': 0.26}]
chr22 GH22I019695 19695838 19695987 0.87 [{'connected_gene': 'SEPT5', 'score': 0.37}, {'connected_gene': 'ENSG00000225007', 'score': 0.31}]
chr22 GH22I019678 19678736 19680486 0.87 [{'connected_gene': 'MED15', 'score': 25.2}, {'connected_gene': 'RPL7AP70', 'score': 23.19}, {'connected_gene': 'ENSG00000273300', 'score': 14.77}, {'connected_gene': 'TRMT2A', 'score': 12.02}, {'connected_gene': 'DGCR11', 'score': 11.99}, {'connected_gene': 'UFD1', 'score': 11.55}, {'connected_gene': 'RPL8P5', 'score': 11.01}, {'connected_gene': 'DGCR8', 'score': 10.56}, {'connected_gene': 'ENSG00000225007', 'score': 0.39}, {'connected_gene': 'SEPT5', 'score': 0.29}]
chr22 GH22I019750 19750945 19751389 0.56 [{'connected_gene': 'GP1BB', 'score': 12.53}, {'connected_gene': 'RPL7AP70', 'score': 12.5}, {'connected_gene': 'SEPT5', 'score': 12.49}, {'connected_gene': 'MED15', 'score': 11.67}, {'connected_gene': 'SCARF2', 'score': 11.24}, {'connected_gene': 'DGCR11', 'score': 9.96}, {'connected_gene': 'TBX1', 'score': 0.44}, {'connected_gene': 'LOC105372861', 'score': 0.34}]
chr22 GH22I019722 19722445 19724367 1.69 [{'connected_gene': 'GP1BB', 'score': 550.77}, {'connected_gene': 'DGCR8', 'score': 14.45}, {'connected_gene': 'TRMT2A', 'score': 10.85}, {'connected_gene': 'LINC01311', 'score': 10.41}, {'connected_gene': 'LOC100420177', 'score': 10.26}, {'connected_gene': 'E2F6P1', 'score': 9.97}, {'connected_gene': 'ZDHHC8', 'score': 9.9}, {'connected_gene': 'LOC105372861', 'score': 0.77}, {'connected_gene': 'SEPT5-GP1BB', 'score': 0.44}, {'connected_gene': 'SEPT5', 'score': 0.44}]
chr22 GH22I019744 19744356 19746827 0.67 [{'connected_gene': 'GP1BB', 'score': 13.05}, {'connected_gene': 'SEPT5', 'score': 13.01}, {'connected_gene': 'TBX1', 'score': 0.39}, {'connected_gene': 'LOC105372861', 'score': 0.37}]
chr22 GH22I019723 19722374 19722407 0.79 [{'connected_gene': 'GP1BB', 'score': 550.77}, {'connected_gene': 'SEPT5-GP1BB', 'score': 0.44}, {'connected_gene': 'SEPT5', 'score': 0.44}]
chr22 GH22I019717 19717538 19719834 2.01 [{'connected_gene': 'SEPT5-GP1BB', 'score': 550.77}, {'connected_gene': 'SEPT5', 'score': 550.77}, {'connected_gene': 'DGCR8', 'score': 21.47}, {'connected_gene': 'LINC01311', 'score': 19.34}, {'connected_gene': 'RANBP1', 'score': 15.85}, {'connected_gene': 'ZNF74', 'score': 12.49}, {'connected_gene': 'TRMT2A', 'score': 11.99}, {'connected_gene': 'UFD1', 'score': 11.73}, {'connected_gene': 'ABHD17AP4', 'score': 11.71}, {'connected_gene': 'KLHL22', 'score': 11.14}, {'connected_gene': 'E2F6P1', 'score': 10.63}, {'connected_gene': 'ENSG00000273343', 'score': 10.3}, {'connected_gene': 'RPL7AP70', 'score': 10.05}, {'connected_gene': 'DGCR11', 'score': 4.95}, {'connected_gene': 'GP1BB', 'score': 0.77}]
chr22 GH22I019632 19632278 19632427 0.82 [{'connected_gene': 'LOC100129254', 'score': 550.77}, {'connected_gene': 'GC22P019632', 'score': 550.77}, {'connected_gene': 'SEPT5', 'score': 12.27}, {'connected_gene': 'UFD1', 'score': 12.27}, {'connected_gene': 'CDC45', 'score': 12.27}, {'connected_gene': 'GP1BB', 'score': 12.25}, {'connected_gene': 'LINC00895', 'score': 0.2}]

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