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
ENST00000314400 [[112721286, 112724851], [112727017, 112727277], [112729489, 112729551], [112729891, 112730253], [112731580, 112731658], [112732118, 112732250], [112732799, 112732879], [112736294, 112736449], [112738388, 112738686]] [[112724382, 112724851], [112727017, 112727277], [112729489, 112729551], [112729891, 112730253], [112731580, 112731658], [112732118, 112732250], [112732799, 112732879], [112736294, 112736449], [112738388, 112738494]]
ENST00000383675 [[112721290, 112724851], [112727017, 112727277], [112729489, 112729551], [112729891, 112730253], [112732799, 112732879], [112736294, 112736449], [112738388, 112738580]] [[112724382, 112724851], [112727017, 112727277], [112729489, 112729551], [112729891, 112730253], [112732799, 112732879], [112736294, 112736449], [112738388, 112738494]]
ENST00000472637 [[112723763, 112724851], [112727017, 112727277], [112729489, 112729551], [112729891, 112730253], [112731580, 112731658], [112732118, 112732250], [112732795, 112732879], [112738388, 112738501]] [[112732874, 112732879], [112738388, 112738494]]
ENST00000486271 [[112723763, 112724851], [112727017, 112727277], [112729489, 112729551], [112729891, 112730253], [112731580, 112732250], [112732799, 112732879], [112736294, 112736449], [112738388, 112738553]] None
ENST00000393857 [[112723767, 112724851], [112727017, 112727277], [112729489, 112729551], [112729891, 112730253], [112731580, 112731658], [112732118, 112732250], [112732795, 112732879], [112738388, 112738494]] [[112724382, 112724851], [112727017, 112727277], [112729489, 112729551], [112729891, 112730253], [112731580, 112731658], [112732118, 112732183]]
ENST00000469809 [[112723800, 112724851], [112727017, 112727277], [112732795, 112732879], [112738388, 112738505]] [[112732874, 112732879], [112738388, 112738494]]
ENST00000474311 [[112723810, 112724851], [112727017, 112727647]] None
ENST00000472705 [[112724022, 112724851], [112727017, 112727277], [112738388, 112738511]] [[112727263, 112727277], [112738388, 112738494]]
ENST00000469169 [[112724089, 112724851], [112727017, 112727277], [112729489, 112729551], [112729891, 112730253], [112731580, 112731658], [112732118, 112732208], [112732799, 112732879], [112738388, 112738511]] [[112732874, 112732879], [112738388, 112738494]]
ENST00000473284 [[112724089, 112724851], [112727017, 112727277], [112729489, 112729551], [112729891, 112730253], [112731580, 112731658], [112732118, 112732250], [112732799, 112732879], [112738388, 112738708]] [[112732874, 112732879], [112738388, 112738494]]
ENST00000489848 [[112724168, 112724851], [112727017, 112727277], [112729489, 112729551], [112729891, 112730253], [112732799, 112732879], [112738388, 112738517]] [[112732874, 112732879], [112738388, 112738494]]
ENST00000462295 [[112724327, 112724851], [112727017, 112727277], [112729489, 112729551], [112729891, 112730012], [112731580, 112731658], [112732118, 112732250], [112732799, 112732879], [112738388, 112738513]] [[112732874, 112732879], [112738388, 112738494]]
ENST00000461381 [[112724790, 112724851], [112727017, 112727277], [112729891, 112730253], [112732799, 112732879], [112736294, 112736449], [112738388, 112738518]] [[112727263, 112727277], [112729891, 112730253], [112732799, 112732879], [112736294, 112736449], [112738388, 112738494]]
ENST00000472762 [[112727017, 112727277], [112728344, 112728431], [112729489, 112729551], [112729891, 112730152]] None
ENST00000482229 [[112727017, 112727277], [112729489, 112729551], [112729891, 112730383]] None
ENST00000464816 [[112729350, 112729551], [112729891, 112730122]] None
ENST00000496206 [[112729504, 112729551], [112729891, 112730253], [112732795, 112732879], [112736294, 112736449], [112738388, 112738491]] [[112732795, 112732879], [112736294, 112736449], [112738388, 112738491]]
ENST00000460410 [[112729891, 112730253], [112731580, 112731658], [112732118, 112732250], [112732795, 112732879], [112738388, 112738679]] [[112732874, 112732879], [112738388, 112738494]]
ENST00000494164 [[112729902, 112730253], [112732799, 112732879], [112738388, 112738698]] [[112732874, 112732879], [112738388, 112738494]]
ENST00000491121 [[112729939, 112730253], [112732795, 112732879], [112738388, 112738568]] [[112732874, 112732879], [112738388, 112738494]]
ENST00000494575 [[112730108, 112730226], [112732177, 112732250], [112732799, 112732879], [112736294, 112736449], [112738388, 112738518]] None
ENST00000494891 [[112731385, 112731658], [112732118, 112732250], [112732799, 112732879], [112738388, 112738450]] None
ENST00000470663 [[112731423, 112731658], [112732118, 112732208], [112732799, 112732879], [112738388, 112738528]] [[112732874, 112732879], [112738388, 112738494]]
ENST00000496340 [[112731639, 112731658], [112732118, 112732250], [112732795, 112732879], [112736294, 112736449], [112738388, 112738518]] [[112732795, 112732879], [112736294, 112736449], [112738388, 112738494]]
ENST00000472166 [[112732121, 112732250], [112732799, 112732879], [112736294, 112736449], [112737912, 112738007]] [[112732121, 112732250], [112732799, 112732879], [112736294, 112736330]]
NM_015412 [[112721290, 112724851], [112727017, 112727277], [112729489, 112729551], [112729891, 112730253], [112731580, 112731658], [112732118, 112732250], [112732799, 112732879], [112736294, 112736449], [112738388, 112738555]] [[112724382, 112724851], [112727017, 112727277], [112729489, 112729551], [112729891, 112730253], [112731580, 112731658], [112732118, 112732250], [112732799, 112732879], [112736294, 112736449], [112738388, 112738494]]
NM_001319109 [[112721290, 112724851], [112727017, 112727277], [112729489, 112729551], [112729891, 112730253], [112732799, 112732879], [112736294, 112736449], [112738388, 112738580]] [[112724382, 112724851], [112727017, 112727277], [112729489, 112729551], [112729891, 112730253], [112732799, 112732879], [112736294, 112736449], [112738388, 112738494]]
NR_134969 [[112721290, 112724851], [112727017, 112727277], [112729891, 112730253], [112732799, 112732879], [112736294, 112736449], [112738388, 112738580]] None
NM_001319114 [[112721290, 112724851], [112727017, 112727277], [112729489, 112729551], [112729891, 112730253], [112731580, 112731658], [112732118, 112732250], [112732795, 112732879], [112738388, 112738580]] [[112724382, 112724851], [112727017, 112727277], [112729489, 112729551], [112729891, 112730253], [112731580, 112731658], [112732118, 112732183]]
NM_001319115 [[112721290, 112724851], [112727017, 112727277], [112729489, 112729551], [112729891, 112730253], [112731580, 112731658], [112732118, 112732250], [112732799, 112732879], [112738388, 112738580]] [[112724382, 112724851], [112727017, 112727277], [112729489, 112729551], [112729891, 112730253], [112731580, 112731658], [112732118, 112732250], [112732799, 112732849]]
NM_001319111 [[112721290, 112724851], [112727017, 112727277], [112729489, 112729551], [112729891, 112730012], [112731580, 112731658], [112732118, 112732250], [112732799, 112732879], [112738388, 112738580]] [[112724382, 112724851], [112727017, 112727277], [112729489, 112729551], [112729891, 112730012], [112731580, 112731658], [112732118, 112732223]]
NM_001319112 [[112721290, 112724851], [112727017, 112727277], [112729489, 112729551], [112729891, 112730253], [112731580, 112731658], [112732118, 112732208], [112732799, 112732879], [112738388, 112738580]] [[112724382, 112724851], [112727017, 112727277], [112729489, 112729551], [112729891, 112730253], [112731580, 112731658], [112732118, 112732208], [112732799, 112732849]]
NM_001319110 [[112721290, 112724851], [112727017, 112727277], [112729489, 112729551], [112729891, 112730253], [112732799, 112732879], [112738388, 112738580]] [[112724382, 112724851], [112727017, 112727277], [112729489, 112729551], [112729891, 112730253], [112732799, 112732849]]
Promoter
Chrom Start End Description
chr3 112738196 112738204 CAGE_peak_6_at_C3orf17_5end
chr3 112738225 112738261 CAGE_peak_4_at_C3orf17_5end
chr3 112738490 112738533 CAGE_peak_1_at_C3orf17_5end
chr3 112738534 112738541 CAGE_peak_2_at_C3orf17_5end
chr3 112738552 112738555 CAGE_peak_5_at_C3orf17_5end
chr3 112738565 112738570 CAGE_peak_3_at_C3orf17_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I113219 113219809 113222237 0.46 [{'connected_gene': 'QTRT2', 'score': 19.45}, {'connected_gene': 'SPICE1', 'score': 15.78}, {'connected_gene': 'ENSG00000239280', 'score': 11.28}, {'connected_gene': 'NEPRO', 'score': 10.37}, {'connected_gene': 'SIDT1', 'score': 6.16}, {'connected_gene': 'CD200R1', 'score': 4.59}, {'connected_gene': 'BOC', 'score': 0.39}, {'connected_gene': 'GC03M113216', 'score': 0.31}]
chr3 GH03I112559 112559573 112563635 2.08 [{'connected_gene': 'SLC35A5', 'score': 569.41}, {'connected_gene': 'ATG3', 'score': 550.77}, {'connected_gene': 'SPICE1', 'score': 24.69}, {'connected_gene': 'NEPRO', 'score': 17.51}, {'connected_gene': 'LOC101180897', 'score': 14.57}, {'connected_gene': 'CFAP44', 'score': 13.69}, {'connected_gene': 'BOC', 'score': 12.72}, {'connected_gene': 'CCDC80', 'score': 10.67}, {'connected_gene': 'MIR567', 'score': 9.38}, {'connected_gene': 'C3orf52', 'score': 9.37}, {'connected_gene': 'ENSG00000279349', 'score': 0.29}]
chr3 GH03I113742 113742049 113750542 2.3 [{'connected_gene': 'ATP6V1A', 'score': 559.43}, {'connected_gene': 'ENSG00000242659', 'score': 550.77}, {'connected_gene': 'NAA50', 'score': 550.77}, {'connected_gene': 'SPICE1', 'score': 24.73}, {'connected_gene': 'QTRT2', 'score': 24.0}, {'connected_gene': 'NEPRO', 'score': 17.49}, {'connected_gene': 'LOC101180897', 'score': 14.59}, {'connected_gene': 'CFAP44', 'score': 13.72}, {'connected_gene': 'BOC', 'score': 12.72}, {'connected_gene': 'USF3', 'score': 10.26}, {'connected_gene': 'ENSG00000239280', 'score': 0.44}]
chr3 GH03I112990 112990218 112992839 2.06 [{'connected_gene': 'GTPBP8', 'score': 560.98}, {'connected_gene': 'ENSG00000272844', 'score': 550.77}, {'connected_gene': 'NEPRO', 'score': 22.87}, {'connected_gene': 'USF3', 'score': 13.87}, {'connected_gene': 'SPICE1', 'score': 11.75}, {'connected_gene': 'CFAP44', 'score': 9.88}, {'connected_gene': 'CD200R1', 'score': 5.27}, {'connected_gene': 'PIR55468', 'score': 0.39}]
chr3 GH03I113769 113769600 113770000 0.79 [{'connected_gene': 'NEPRO', 'score': 14.49}, {'connected_gene': 'USF3', 'score': 14.03}, {'connected_gene': 'QTRT2', 'score': 13.61}, {'connected_gene': 'SPICE1', 'score': 11.79}, {'connected_gene': 'GRAMD1C', 'score': 11.66}, {'connected_gene': 'CFAP44', 'score': 9.89}, {'connected_gene': 'ENSG00000259976', 'score': 9.67}, {'connected_gene': 'ATP6V1A', 'score': 9.55}, {'connected_gene': 'ENSG00000242659', 'score': 0.34}]
chr3 GH03I112615 112615264 112616406 0.92 [{'connected_gene': 'NEPRO', 'score': 17.51}, {'connected_gene': 'SPICE1', 'score': 16.3}, {'connected_gene': 'LOC101180897', 'score': 14.57}, {'connected_gene': 'CFAP44', 'score': 13.69}, {'connected_gene': 'BOC', 'score': 12.72}, {'connected_gene': 'CCDC80', 'score': 10.8}, {'connected_gene': 'LINC01279', 'score': 0.39}]
chr3 GH03I113017 113017630 113020971 1.53 [{'connected_gene': 'NEPRO', 'score': 560.52}, {'connected_gene': 'LOC102723430', 'score': 555.64}, {'connected_gene': 'GC03P113017', 'score': 550.77}, {'connected_gene': 'GTPBP8', 'score': 8.88}, {'connected_gene': 'CD200R1', 'score': 4.76}]
chr3 GH03I113021 113021061 113021370 0.38 [{'connected_gene': 'NEPRO', 'score': 560.77}, {'connected_gene': 'LOC102723430', 'score': 550.77}, {'connected_gene': 'CD200R1', 'score': 10.06}, {'connected_gene': 'ENSG00000243483', 'score': 0.34}]
chr3 GH03I113694 113694757 113699589 2.29 [{'connected_gene': 'USF3', 'score': 560.52}, {'connected_gene': 'NAA50', 'score': 14.16}, {'connected_gene': 'GTPBP8', 'score': 12.99}, {'connected_gene': 'NEPRO', 'score': 12.5}, {'connected_gene': 'QTRT2', 'score': 10.14}, {'connected_gene': 'SIDT1', 'score': 9.15}, {'connected_gene': 'ATP6V1A', 'score': 8.29}, {'connected_gene': 'GC03P113719', 'score': 0.34}]
chr3 GH03I113513 113513862 113516201 1.95 [{'connected_gene': 'SPICE1', 'score': 550.77}, {'connected_gene': 'LOC101180897', 'score': 22.73}, {'connected_gene': 'CFAP44', 'score': 20.19}, {'connected_gene': 'NEPRO', 'score': 12.03}, {'connected_gene': 'SIDT1-AS1', 'score': 10.56}, {'connected_gene': 'USF3', 'score': 10.42}, {'connected_gene': 'GC03P113463', 'score': 0.23}]
chr3 GH03I112646 112646127 112656663 1.46 [{'connected_gene': 'CCDC80', 'score': 559.96}, {'connected_gene': 'ENSG00000242770', 'score': 9.9}, {'connected_gene': 'NEPRO', 'score': 4.44}, {'connected_gene': 'GC03M112647', 'score': 0.34}]
chr3 GH03I112972 112972601 112977015 2.14 [{'connected_gene': 'CD200R1', 'score': 556.59}, {'connected_gene': 'ENSG00000242770', 'score': 9.95}, {'connected_gene': 'NEPRO', 'score': 8.61}, {'connected_gene': 'GTPBP8', 'score': 6.21}, {'connected_gene': 'LOC102723430', 'score': 4.43}, {'connected_gene': 'CD200R1L', 'score': 0.13}]
chr3 GH03I113092 113092647 113097560 0.69 [{'connected_gene': 'LOC102723430', 'score': 5.18}, {'connected_gene': 'GTPBP8', 'score': 4.85}, {'connected_gene': 'LINC02044', 'score': 4.46}, {'connected_gene': 'ENSG00000272844', 'score': 4.44}, {'connected_gene': 'NEPRO', 'score': 4.33}, {'connected_gene': 'ENSG00000241219', 'score': 0.29}]
chr3 GH03I112676 112676021 112678265 1.6 [{'connected_gene': 'LOC101180897', 'score': 17.81}, {'connected_gene': 'NEPRO', 'score': 14.51}, {'connected_gene': 'SPICE1', 'score': 11.75}, {'connected_gene': 'CFAP44', 'score': 9.86}, {'connected_gene': 'CCDC80', 'score': 2.8}, {'connected_gene': 'GC03M112647', 'score': 0.44}, {'connected_gene': 'GC03P112695', 'score': 0.37}]
chr3 GH03I112824 112824359 112824420 0.22 [{'connected_gene': 'ENSG00000242770', 'score': 12.09}, {'connected_gene': 'CD200R1L', 'score': 11.97}, {'connected_gene': 'CD200R1', 'score': 10.99}, {'connected_gene': 'NEPRO', 'score': 1.35}]
chr3 GH03I113005 113005161 113006749 0.31 [{'connected_gene': 'PIR33505', 'score': 550.77}, {'connected_gene': 'GTPBP8', 'score': 10.42}, {'connected_gene': 'NEPRO', 'score': 7.98}, {'connected_gene': 'PIR33628', 'score': 0.77}]
chr3 GH03I112670 112670227 112674800 1.29 [{'connected_gene': 'GC03M112647', 'score': 550.77}, {'connected_gene': 'NEPRO', 'score': 12.49}, {'connected_gene': 'CFAP44', 'score': 9.92}, {'connected_gene': 'CCDC80', 'score': 7.84}, {'connected_gene': 'SLC35A5', 'score': 4.55}, {'connected_gene': 'GC03P112695', 'score': 0.34}]

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