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
ENST00000545932 [[108956357, 108958168], [108959096, 108959207], [108960965, 108961044], [108961433, 108963117]] None
ENST00000552072 [[108956376, 108956512], [108958054, 108958168], [108959096, 108959207], [108960965, 108961342]] None
ENST00000535729 [[108956376, 108956512], [108958054, 108958168], [108959096, 108959207], [108960965, 108961044], [108961433, 108962323]] [[108956398, 108956512], [108958054, 108958168], [108959096, 108959207], [108960965, 108961044], [108961433, 108961480]]
ENST00000431221 [[108956376, 108956512], [108958054, 108958168], [108959096, 108959207], [108960965, 108961044], [108961695, 108961792], [108962606, 108962868]] [[108956398, 108956512], [108958054, 108958168], [108959096, 108959207], [108960965, 108961044], [108961695, 108961748]]
ENST00000547005 [[108956376, 108956512], [108958054, 108958168], [108959096, 108959207], [108960965, 108961044], [108961433, 108961519], [108962606, 108962875]] [[108956398, 108956512], [108958054, 108958168], [108959096, 108959207], [108960965, 108961044], [108961433, 108961480]]
ENST00000311893 [[108956376, 108956512], [108958054, 108958168], [108959096, 108959207], [108960965, 108961044], [108962606, 108963160]] [[108956398, 108956512], [108958054, 108958168], [108959096, 108959207], [108960965, 108961044], [108962606, 108962692]]
ENST00000338291 [[108956381, 108956512], [108957835, 108957931], [108958054, 108958168], [108959096, 108959207], [108960965, 108961044], [108961433, 108961533], [108962606, 108963143]] [[108957892, 108957931], [108958054, 108958168], [108959096, 108959207], [108960965, 108961044], [108961433, 108961480]]
ENST00000392807 [[108956381, 108956512], [108957835, 108957931], [108958054, 108958168], [108959096, 108959207], [108960965, 108961044], [108962606, 108963144]] [[108957892, 108957931], [108958054, 108958168], [108959096, 108959207], [108960965, 108961044], [108962606, 108962692]]
ENST00000539580 [[108956381, 108956512], [108957835, 108957931], [108958054, 108958168], [108959096, 108959207], [108960965, 108961044], [108961433, 108961533], [108962606, 108963144]] [[108956398, 108956512], [108957835, 108957862]]
ENST00000539593 [[108956385, 108956512], [108958054, 108958168], [108959096, 108959207], [108960965, 108961684]] [[108956398, 108956512], [108958054, 108958168], [108959096, 108959207], [108960965, 108961091]]
ENST00000535405 [[108956392, 108956512], [108957835, 108958168], [108959096, 108959207], [108960965, 108961220]] None
ENST00000544493 [[108958774, 108959207], [108960965, 108961075]] None
ENST00000540154 [[108961509, 108961533], [108961695, 108961792], [108962606, 108962870]] None
ENST00000538193 [[108961633, 108961792], [108962606, 108962870]] None
NM_213595 [[108955238, 108956512], [108958054, 108958168], [108959096, 108959207], [108960965, 108961044], [108962606, 108963160]] [[108956398, 108956512], [108958054, 108958168], [108959096, 108959207], [108960965, 108961044], [108962606, 108962692]]
NM_001301141 [[108955238, 108956512], [108958054, 108958168], [108959096, 108959207], [108960965, 108961044], [108961695, 108961792], [108962606, 108963160]] [[108956398, 108956512], [108958054, 108958168], [108959096, 108959207], [108960965, 108961044], [108961695, 108961748]]
NM_001301140 [[108955238, 108956512], [108958054, 108958168], [108959096, 108959207], [108960965, 108961044], [108961433, 108961519], [108962606, 108963160]] [[108956398, 108956512], [108958054, 108958168], [108959096, 108959207], [108960965, 108961044], [108961433, 108961480]]
NM_001320042 [[108955238, 108956512], [108958054, 108958168], [108959096, 108959207], [108960965, 108961044], [108961433, 108963160]] [[108956398, 108956512], [108958054, 108958168], [108959096, 108959207], [108960965, 108961044], [108961433, 108961480]]
NM_014301 [[108955238, 108956512], [108957835, 108957931], [108958054, 108958168], [108959096, 108959207], [108960965, 108961044], [108962606, 108963160]] [[108957892, 108957931], [108958054, 108958168], [108959096, 108959207], [108960965, 108961044], [108962606, 108962692]]
NR_135127 [[108955238, 108956512], [108957835, 108957931], [108958054, 108958168], [108959096, 108959207], [108960965, 108961044], [108961433, 108961533], [108962606, 108963160]] None
Promoter
Chrom Start End Description
chr12 108956303 108956313 CAGE_peak_2_at_ISCU_5end
chr12 108956355 108956403 CAGE_peak_1_at_ISCU_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I108596 108595601 108595800 0.77 [{'connected_gene': 'SART3', 'score': 12.0}, {'connected_gene': 'UBE3B', 'score': 11.14}, {'connected_gene': 'PRDM4', 'score': 10.04}, {'connected_gene': 'TMEM119', 'score': 0.77}, {'connected_gene': 'GC12M108565', 'score': 0.44}, {'connected_gene': 'ISCU', 'score': 0.29}]
chr12 GH12I108559 108559380 108571769 2.51 [{'connected_gene': 'SART3', 'score': 572.83}, {'connected_gene': 'ISCU', 'score': 567.41}, {'connected_gene': 'PWP1', 'score': 22.52}, {'connected_gene': 'FICD', 'score': 21.31}, {'connected_gene': 'UBE3B', 'score': 19.87}, {'connected_gene': 'PRDM4', 'score': 9.81}, {'connected_gene': 'GC12P108558', 'score': 0.44}, {'connected_gene': 'TMEM119', 'score': 0.29}, {'connected_gene': 'GC12M108565', 'score': 0.28}, {'connected_gene': 'GC12P108510', 'score': 0.22}]
chr12 GH12I108578 108578674 108579442 0.69 [{'connected_gene': 'SART3', 'score': 57.79}, {'connected_gene': 'PWP1', 'score': 55.09}, {'connected_gene': 'PRDM4', 'score': 39.14}, {'connected_gene': 'UBE3B', 'score': 18.02}, {'connected_gene': 'WSCD2', 'score': 15.09}, {'connected_gene': 'ALKBH2', 'score': 13.8}, {'connected_gene': 'LOC101929162', 'score': 12.36}, {'connected_gene': 'USP30', 'score': 11.96}, {'connected_gene': 'KCTD10', 'score': 11.12}, {'connected_gene': 'RNU4-32P', 'score': 9.96}, {'connected_gene': 'TMEM119', 'score': 4.84}, {'connected_gene': 'ISCU', 'score': 0.37}, {'connected_gene': 'GC12M108565', 'score': 0.31}]
chr12 GH12I108587 108587825 108590207 0.59 [{'connected_gene': 'SELPLG', 'score': 10.63}, {'connected_gene': 'TMEM119', 'score': 6.7}, {'connected_gene': 'GC12M108565', 'score': 0.37}, {'connected_gene': 'ISCU', 'score': 0.31}]
chr12 GH12I108609 108609205 108610567 1.03 [{'connected_gene': 'SELPLG', 'score': 12.83}, {'connected_gene': 'FICD', 'score': 10.67}, {'connected_gene': 'LINC01498', 'score': 10.64}, {'connected_gene': 'ISCU', 'score': 6.15}, {'connected_gene': 'GC12M108565', 'score': 0.77}, {'connected_gene': 'LOC105369968', 'score': 0.37}]
chr12 GH12I108626 108626747 108650980 2.81 [{'connected_gene': 'SELPLG', 'score': 561.83}, {'connected_gene': 'PWP1', 'score': 46.82}, {'connected_gene': 'SART3', 'score': 38.69}, {'connected_gene': 'PRDM4', 'score': 20.42}, {'connected_gene': 'UBE3B', 'score': 20.14}, {'connected_gene': 'RNU4-32P', 'score': 19.44}, {'connected_gene': 'CORO1C', 'score': 17.53}, {'connected_gene': 'FICD', 'score': 15.49}, {'connected_gene': 'LOC101929162', 'score': 15.2}, {'connected_gene': 'TMEM119', 'score': 11.32}, {'connected_gene': 'RNU7-169P', 'score': 10.97}, {'connected_gene': 'LINC01498', 'score': 10.47}, {'connected_gene': 'ALKBH2', 'score': 10.34}, {'connected_gene': 'ENSG00000257221', 'score': 8.22}, {'connected_gene': 'FOXN4', 'score': 5.63}, {'connected_gene': 'MVK', 'score': 5.5}, {'connected_gene': 'ACACB', 'score': 4.69}, {'connected_gene': 'ISCU', 'score': 4.63}, {'connected_gene': 'SSH1', 'score': 1.87}, {'connected_gene': 'MIR4496', 'score': 0.77}, {'connected_gene': 'GC12P108645', 'score': 0.44}, {'connected_gene': 'GC12P108633', 'score': 0.44}, {'connected_gene': 'LOC105369968', 'score': 0.39}]
chr12 GH12I108582 108582146 108584945 0.77 [{'connected_gene': 'TMEM119', 'score': 10.08}, {'connected_gene': 'GC12M108565', 'score': 0.34}, {'connected_gene': 'ISCU', 'score': 0.34}]
chr12 GH12I108595 108595818 108598769 1.92 [{'connected_gene': 'TMEM119', 'score': 563.16}, {'connected_gene': 'PRDM4', 'score': 10.04}, {'connected_gene': 'ISCU', 'score': 5.83}, {'connected_gene': 'GC12M108565', 'score': 0.44}]
chr12 GH12I108663 108663111 108668922 1.67 [{'connected_gene': 'CORO1C', 'score': 19.22}, {'connected_gene': 'SELPLG', 'score': 12.91}, {'connected_gene': 'SSH1', 'score': 12.74}, {'connected_gene': 'SART3', 'score': 11.51}, {'connected_gene': 'ISCU', 'score': 11.51}, {'connected_gene': 'ENSG00000257221', 'score': 8.06}, {'connected_gene': 'MVK', 'score': 5.53}, {'connected_gene': 'ACACB', 'score': 4.88}, {'connected_gene': 'RNU7-169P', 'score': 0.77}, {'connected_gene': 'GC12P108669', 'score': 0.77}, {'connected_gene': 'GC12P108645', 'score': 0.34}]
chr12 GH12I108571 108571886 108572073 0.83 [{'connected_gene': 'ISCU', 'score': 9.29}, {'connected_gene': 'CMKLR1', 'score': 5.66}, {'connected_gene': 'GC12P108558', 'score': 0.39}, {'connected_gene': 'TMEM119', 'score': 0.31}, {'connected_gene': 'GC12M108565', 'score': 0.29}, {'connected_gene': 'GC12P108510', 'score': 0.21}]
chr12 GH12I108482 108482294 108484383 1.34 [{'connected_gene': 'ISCU', 'score': 5.34}, {'connected_gene': 'FICD', 'score': 4.61}, {'connected_gene': 'SELPLG', 'score': 2.59}, {'connected_gene': 'SSH1', 'score': 2.08}, {'connected_gene': 'LINC01498', 'score': 0.44}, {'connected_gene': 'PIR53896', 'score': 0.26}]
chr12 GH12I108575 108575546 108577409 1.05 [{'connected_gene': 'ISCU', 'score': 11.39}, {'connected_gene': 'FICD', 'score': 9.39}, {'connected_gene': 'GC12P108558', 'score': 0.37}, {'connected_gene': 'TMEM119', 'score': 0.34}, {'connected_gene': 'GC12M108565', 'score': 0.31}]
chr12 GH12I108543 108543151 108544400 0.2 [{'connected_gene': 'ISCU', 'score': 17.01}, {'connected_gene': 'FICD', 'score': 11.84}, {'connected_gene': 'LINC01498', 'score': 11.76}, {'connected_gene': 'GC12M108547', 'score': 0.44}, {'connected_gene': 'SART3', 'score': 0.37}, {'connected_gene': 'PIR52944', 'score': 0.34}, {'connected_gene': 'GC12P108510', 'score': 0.29}]
chr12 GH12I108547 108547942 108549628 0.38 [{'connected_gene': 'ISCU', 'score': 17.04}, {'connected_gene': 'FICD', 'score': 11.82}, {'connected_gene': 'LINC01498', 'score': 11.75}, {'connected_gene': 'GC12M108547', 'score': 0.77}, {'connected_gene': 'SART3', 'score': 0.39}, {'connected_gene': 'PIR52944', 'score': 0.31}, {'connected_gene': 'GC12P108510', 'score': 0.28}]
chr12 GH12I108536 108536220 108537587 0.2 [{'connected_gene': 'ISCU', 'score': 18.44}, {'connected_gene': 'FICD', 'score': 12.08}, {'connected_gene': 'LINC01498', 'score': 12.0}, {'connected_gene': 'PIR52944', 'score': 0.39}, {'connected_gene': 'GC12M108547', 'score': 0.37}, {'connected_gene': 'SART3', 'score': 0.34}, {'connected_gene': 'GC12P108510', 'score': 0.31}]
chr12 GH12I108572 108572398 108572784 1.22 [{'connected_gene': 'CMKLR1', 'score': 6.05}, {'connected_gene': 'ISCU', 'score': 0.39}, {'connected_gene': 'GC12P108558', 'score': 0.39}, {'connected_gene': 'TMEM119', 'score': 0.31}, {'connected_gene': 'GC12M108565', 'score': 0.29}, {'connected_gene': 'GC12P108510', 'score': 0.21}]
chr12 GH12I108525 108525179 108528405 0.6 [{'connected_gene': 'FICD', 'score': 21.84}, {'connected_gene': 'ISCU', 'score': 12.09}, {'connected_gene': 'ALKBH2', 'score': 5.17}, {'connected_gene': 'PIR52944', 'score': 0.77}, {'connected_gene': 'GC12P108510', 'score': 0.37}, {'connected_gene': 'GC12M108547', 'score': 0.31}, {'connected_gene': 'SART3', 'score': 0.29}]
chr12 GH12I108540 108540245 108542643 0.89 [{'connected_gene': 'FICD', 'score': 31.88}, {'connected_gene': 'ISCU', 'score': 17.24}, {'connected_gene': 'LINC01498', 'score': 11.99}, {'connected_gene': 'GC12M108547', 'score': 0.39}, {'connected_gene': 'PIR52944', 'score': 0.37}, {'connected_gene': 'SART3', 'score': 0.37}, {'connected_gene': 'GC12P108510', 'score': 0.29}]
chr12 GH12I108514 108514564 108516839 2.01 [{'connected_gene': 'FICD', 'score': 571.01}, {'connected_gene': 'PWP1', 'score': 24.07}, {'connected_gene': 'SART3', 'score': 19.89}, {'connected_gene': 'KCTD10', 'score': 17.39}, {'connected_gene': 'LOC101929162', 'score': 13.06}, {'connected_gene': 'ALKBH2', 'score': 11.05}, {'connected_gene': 'UBE3B', 'score': 10.29}, {'connected_gene': 'ISCU', 'score': 8.28}, {'connected_gene': 'GC12P108510', 'score': 0.44}, {'connected_gene': 'PIR52944', 'score': 0.44}]
chr12 GH12I108614 108614207 108615339 0.62 [{'connected_gene': 'PWP1', 'score': 16.11}, {'connected_gene': 'SART3', 'score': 13.6}, {'connected_gene': 'ALKBH2', 'score': 12.03}, {'connected_gene': 'UBE3B', 'score': 11.91}, {'connected_gene': 'TMEM119', 'score': 11.72}, {'connected_gene': 'PRDM4', 'score': 10.94}, {'connected_gene': 'ISCU', 'score': 6.06}, {'connected_gene': 'GC12M108565', 'score': 0.44}, {'connected_gene': 'LOC105369968', 'score': 0.39}]
chr12 GH12I108605 108605239 108606746 0.9 [{'connected_gene': 'GC12M108565', 'score': 550.77}, {'connected_gene': 'SART3', 'score': 98.2}, {'connected_gene': 'PWP1', 'score': 79.3}, {'connected_gene': 'ALKBH2', 'score': 33.12}, {'connected_gene': 'PRDM4', 'score': 30.14}, {'connected_gene': 'RNU4-32P', 'score': 24.91}, {'connected_gene': 'LOC101929162', 'score': 22.79}, {'connected_gene': 'UBE3B', 'score': 19.49}, {'connected_gene': 'USP30', 'score': 11.96}, {'connected_gene': 'TMEM119', 'score': 10.27}, {'connected_gene': 'ISCU', 'score': 4.93}, {'connected_gene': 'LOC105369968', 'score': 0.34}]

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