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
ENST00000308448 [[89511268, 89514564], [89516545, 89516679], [89527429, 89527480], [89530708, 89530798], [89536077, 89536184], [89544226, 89544427], [89550066, 89550187], [89552413, 89552512], [89574194, 89574369], [89577551, 89577917]] [[89514443, 89514564], [89516545, 89516679], [89527429, 89527480], [89530708, 89530798], [89536077, 89536184], [89544226, 89544427], [89550066, 89550187], [89552413, 89552512], [89574194, 89574356]]
ENST00000328142 [[89512873, 89514564], [89516545, 89516679], [89527429, 89527480], [89530708, 89530798], [89536077, 89536184], [89544226, 89544427], [89550066, 89550187], [89552413, 89552512], [89574194, 89574639]] [[89514443, 89514564], [89516545, 89516679], [89527429, 89527480], [89530708, 89530798], [89536077, 89536184], [89544226, 89544427], [89550066, 89550187], [89552413, 89552512], [89574194, 89574356]]
ENST00000400215 [[89514002, 89514564], [89516545, 89516679], [89527429, 89527480], [89536077, 89536184], [89544226, 89544427], [89550066, 89550187], [89552413, 89552514]] [[89514443, 89514564], [89516545, 89516679], [89527429, 89527480], [89536077, 89536184], [89544226, 89544427], [89550066, 89550187], [89552413, 89552500]]
ENST00000541004 [[89519511, 89519544], [89527429, 89527480], [89530708, 89530798], [89536077, 89536184], [89544226, 89544427], [89550066, 89550187], [89552413, 89552512], [89574194, 89574369], [89577551, 89577917]] [[89519511, 89519544], [89527429, 89527480], [89530708, 89530798], [89536077, 89536184], [89544226, 89544427], [89550066, 89550187], [89552413, 89552512], [89574194, 89574356]]
ENST00000495903 [[89544308, 89544427], [89550066, 89550187], [89552413, 89552512], [89574194, 89574369], [89600943, 89601100]] None
NM_032810 [[89511268, 89514564], [89516545, 89516679], [89527429, 89527480], [89530708, 89530798], [89536077, 89536184], [89544226, 89544427], [89550066, 89550187], [89552413, 89552512], [89574194, 89574369], [89577551, 89577988]] [[89514443, 89514564], [89516545, 89516679], [89527429, 89527480], [89530708, 89530798], [89536077, 89536184], [89544226, 89544427], [89550066, 89550187], [89552413, 89552512], [89574194, 89574356]]
NM_001321969 [[89511268, 89514564], [89516545, 89516679], [89527429, 89527480], [89530708, 89530798], [89536077, 89536184], [89544226, 89544427], [89548796, 89548886], [89550066, 89550187], [89552413, 89552512], [89574194, 89574369], [89577923, 89577988]] [[89514443, 89514564], [89516545, 89516679], [89527429, 89527480], [89530708, 89530798], [89536077, 89536184], [89544226, 89544427], [89548796, 89548821]]
NR_135914 [[89511268, 89514564], [89516545, 89516679], [89519457, 89519544], [89527429, 89527480], [89530708, 89530798], [89536077, 89536184], [89544226, 89544427], [89550066, 89550187], [89552413, 89552512], [89574194, 89574369], [89577923, 89577988]] None
NM_001321967 [[89511268, 89514564], [89516545, 89516679], [89527429, 89527480], [89530708, 89530798], [89536077, 89536184], [89544226, 89544427], [89550066, 89550187], [89552413, 89552512], [89574194, 89574369], [89577923, 89577988]] [[89514443, 89514564], [89516545, 89516679], [89527429, 89527480], [89530708, 89530798], [89536077, 89536184], [89544226, 89544427], [89550066, 89550187], [89552413, 89552512], [89574194, 89574356]]
NM_001321968 [[89511268, 89514564], [89516545, 89516679], [89527429, 89527480], [89536077, 89536184], [89544226, 89544427], [89550066, 89550187], [89552413, 89552512], [89574194, 89574369], [89577923, 89577988]] [[89514443, 89514564], [89516545, 89516679], [89527429, 89527480], [89536077, 89536184], [89544226, 89544427], [89550066, 89550187], [89552413, 89552512], [89574194, 89574356]]
Promoter
Chrom Start End Description
chr10 89577589 89577596 CAGE_peak_7_at_ATAD1_5end
chr10 89577636 89577647 CAGE_peak_9_at_ATAD1_5end
chr10 89577654 89577665 CAGE_peak_6_at_ATAD1_5end
chr10 89577732 89577739 CAGE_peak_13_at_ATAD1_5end
chr10 89577755 89577776 CAGE_peak_2_at_ATAD1_5end
chr10 89577778 89577785 CAGE_peak_3_at_ATAD1_5end
chr10 89577910 89578010 CAGE_peak_1_at_ATAD1_5end
chr10 89601072 89601077 CAGE_peak_14_at_ATAD1_5end
chr10 89601079 89601089 CAGE_peak_11_at_ATAD1_5end
chr10 89601094 89601122 CAGE_peak_5_at_ATAD1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I087734 87734384 87735733 0.89 [{'connected_gene': 'PAPSS2', 'score': 12.6}, {'connected_gene': 'ENSG00000196566', 'score': 12.6}, {'connected_gene': 'ATAD1', 'score': 7.22}, {'connected_gene': 'RPL11P3', 'score': 5.95}, {'connected_gene': 'PIR53011', 'score': 0.77}, {'connected_gene': 'GC10P087721', 'score': 0.39}, {'connected_gene': 'GC10M087750', 'score': 0.37}]
chr10 GH10I087740 87740200 87741000 1.19 [{'connected_gene': 'PAPSS2', 'score': 11.75}, {'connected_gene': 'ENSG00000196566', 'score': 11.75}, {'connected_gene': 'ATAD1', 'score': 6.56}, {'connected_gene': 'PIR53011', 'score': 0.44}, {'connected_gene': 'GC10M087750', 'score': 0.39}]
chr10 GH10I087742 87742643 87743920 0.81 [{'connected_gene': 'ATAD1', 'score': 6.87}, {'connected_gene': 'GC10M087750', 'score': 0.44}, {'connected_gene': 'PIR53011', 'score': 0.39}, {'connected_gene': 'PAPSS2', 'score': 0.18}]
chr10 GH10I087746 87746681 87747562 0.31 [{'connected_gene': 'ATAD1', 'score': 6.85}, {'connected_gene': 'GC10M087750', 'score': 0.44}, {'connected_gene': 'PIR53011', 'score': 0.37}, {'connected_gene': 'PAPSS2', 'score': 0.17}]
chr10 GH10I087815 87815128 87819527 2.25 [{'connected_gene': 'ATAD1', 'score': 567.87}, {'connected_gene': 'GC10M087815', 'score': 550.77}, {'connected_gene': 'GC10P087816', 'score': 550.77}, {'connected_gene': 'CFL1P1', 'score': 550.77}]
chr10 GH10I087759 87759758 87761364 0.86 [{'connected_gene': 'ATAD1', 'score': 7.11}, {'connected_gene': 'GC10M087750', 'score': 0.44}, {'connected_gene': 'GC10P087816', 'score': 0.22}]
chr10 GH10I087761 87761656 87762201 1.1 [{'connected_gene': 'ATAD1', 'score': 6.75}, {'connected_gene': 'GC10M087750', 'score': 0.44}, {'connected_gene': 'GC10P087816', 'score': 0.23}]
chr10 GH10I087748 87748715 87749078 0.33 [{'connected_gene': 'ATAD1', 'score': 6.39}, {'connected_gene': 'ENSG00000272631', 'score': 4.51}, {'connected_gene': 'GC10M087750', 'score': 0.77}, {'connected_gene': 'PIR53011', 'score': 0.37}]
chr10 GH10I087750 87750064 87750773 0.46 [{'connected_gene': 'ATAD1', 'score': 6.56}, {'connected_gene': 'GC10M087750', 'score': 0.77}, {'connected_gene': 'PIR53011', 'score': 0.37}]
chr10 GH10I087775 87775429 87776778 0.69 [{'connected_gene': 'GC10M087750', 'score': 0.34}, {'connected_gene': 'GC10P087816', 'score': 0.28}, {'connected_gene': 'ATAD1', 'score': 0.2}]
chr10 GH10I087840 87840480 87847323 1.47 [{'connected_gene': 'GC10P087843', 'score': 550.77}, {'connected_gene': 'FAM35A', 'score': 21.82}, {'connected_gene': 'NUTM2A-AS1', 'score': 21.8}, {'connected_gene': 'RPL11P3', 'score': 21.31}, {'connected_gene': 'NUTM2A', 'score': 10.47}, {'connected_gene': 'ENSG00000261011', 'score': 9.93}, {'connected_gene': 'ENSG00000224745', 'score': 5.06}, {'connected_gene': 'LIPJ', 'score': 4.4}, {'connected_gene': 'GC10P087845', 'score': 0.77}, {'connected_gene': 'ATAD1', 'score': 0.77}, {'connected_gene': 'CFL1P1', 'score': 0.31}]
chr10 GH10I087585 87585074 87587686 0.98 [{'connected_gene': 'ENSG00000272631', 'score': 59.44}, {'connected_gene': 'CFL1P1', 'score': 31.99}, {'connected_gene': 'NUTM2A', 'score': 22.87}, {'connected_gene': 'LINC00863', 'score': 21.87}, {'connected_gene': 'FAM35A', 'score': 21.82}, {'connected_gene': 'ATAD1', 'score': 12.99}, {'connected_gene': 'BMPR1A', 'score': 10.98}, {'connected_gene': 'BMS1P3', 'score': 10.3}, {'connected_gene': 'NUTM2A-AS1', 'score': 9.75}, {'connected_gene': 'GC10P087578', 'score': 0.44}, {'connected_gene': 'LOC105378412', 'score': 0.39}]