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
ENST00000372014 [[44081193, 44081946], [44084277, 44084366], [44095080, 44095194]] [[44081579, 44081946], [44084277, 44084348]]
NM_001318770 [[44081190, 44081946], [44084277, 44084366], [44093689, 44094004]] [[44081579, 44081946], [44084277, 44084366], [44093689, 44093830]]
NM_001318769 [[44081190, 44081946], [44084277, 44084366], [44094369, 44094411]] [[44081579, 44081946], [44084277, 44084366], [44094369, 44094384]]
NM_001318768 [[44081190, 44081946], [44084277, 44084366], [44094991, 44095044]] [[44081579, 44081946], [44084277, 44084348]]
NM_032111 [[44081190, 44081946], [44084277, 44084366], [44095080, 44095228]] [[44081579, 44081946], [44084277, 44084348]]
NM_001318771 [[44081190, 44081946], [44095080, 44095228]] [[44081579, 44081915]]
NM_001318767 [[44081190, 44081946], [44084277, 44084366], [44095119, 44095228]] [[44081579, 44081946], [44084277, 44084348]]
Promoter
Chrom Start End Description
chr6 44095102 44095182 CAGE_peak_1_at_MRPL14_5end
chr6 44095183 44095209 CAGE_peak_2_at_MRPL14_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I044068 44068505 44069291 0.89 [{'connected_gene': 'VEGFA', 'score': 11.46}, {'connected_gene': 'MRPL14', 'score': 5.12}, {'connected_gene': 'TMEM63B', 'score': 5.01}, {'connected_gene': 'GC06M044069', 'score': 0.77}, {'connected_gene': 'LOC101929705', 'score': 0.44}, {'connected_gene': 'GC06P044013', 'score': 0.22}]
chr6 GH06I044086 44086801 44087562 0.62 [{'connected_gene': 'MRPL14', 'score': 11.1}, {'connected_gene': 'AARS2', 'score': 10.13}, {'connected_gene': 'GC06M044090', 'score': 0.77}, {'connected_gene': 'LOC101929705', 'score': 0.39}]
chr6 GH06I044125 44125704 44129031 2.2 [{'connected_gene': 'MRPL14', 'score': 570.09}, {'connected_gene': 'TMEM63B', 'score': 561.08}, {'connected_gene': 'POLH', 'score': 18.87}, {'connected_gene': 'ZNF318', 'score': 17.84}, {'connected_gene': 'XPO5', 'score': 13.85}, {'connected_gene': 'RPS2P29', 'score': 13.83}, {'connected_gene': 'POLR1C', 'score': 13.45}, {'connected_gene': 'GTPBP2', 'score': 13.31}, {'connected_gene': 'AARS2', 'score': 10.79}, {'connected_gene': 'NFKBIE', 'score': 10.52}, {'connected_gene': 'SLC35B2', 'score': 10.52}, {'connected_gene': 'ENSG00000271754', 'score': 10.49}, {'connected_gene': 'TMEM151B', 'score': 9.76}]
chr6 GH06I044094 44094004 44095812 0.93 [{'connected_gene': 'MRPL14', 'score': 31.26}, {'connected_gene': 'TMEM63B', 'score': 17.55}, {'connected_gene': 'CAPN11', 'score': 12.29}, {'connected_gene': 'VEGFA', 'score': 10.76}, {'connected_gene': 'AARS2', 'score': 10.75}, {'connected_gene': 'SLC29A1', 'score': 10.72}, {'connected_gene': 'HSP90AB1', 'score': 10.5}, {'connected_gene': 'SLC35B2', 'score': 10.38}, {'connected_gene': 'NFKBIE', 'score': 10.38}, {'connected_gene': 'TMEM151B', 'score': 10.29}, {'connected_gene': 'SPATS1', 'score': 9.7}, {'connected_gene': 'RPL29P16', 'score': 0.44}, {'connected_gene': 'PIR46189', 'score': 0.37}]
chr6 GH06I044119 44119607 44120176 0.92 [{'connected_gene': 'MRPL14', 'score': 19.8}, {'connected_gene': 'TMEM63B', 'score': 10.74}, {'connected_gene': 'PIR46189', 'score': 0.44}]
chr6 GH06I044122 44122453 44124523 1.1 [{'connected_gene': 'MRPL14', 'score': 20.15}, {'connected_gene': 'TMEM63B', 'score': 0.77}, {'connected_gene': 'PIR46189', 'score': 0.39}]
chr6 GH06I044132 44132160 44135231 1.35 [{'connected_gene': 'MRPL14', 'score': 20.87}, {'connected_gene': 'CAPN11', 'score': 11.91}, {'connected_gene': 'TMEM63B', 'score': 10.63}, {'connected_gene': 'NFKBIE', 'score': 10.44}, {'connected_gene': 'SLC35B2', 'score': 10.37}, {'connected_gene': 'CRIP3', 'score': 4.11}, {'connected_gene': 'PIR60878', 'score': 0.34}]
chr6 GH06I044114 44114113 44118674 1.21 [{'connected_gene': 'MRPL14', 'score': 21.74}, {'connected_gene': 'CAPN11', 'score': 12.05}, {'connected_gene': 'SLC29A1', 'score': 10.94}, {'connected_gene': 'HSP90AB1', 'score': 10.78}, {'connected_gene': 'TMEM63B', 'score': 10.7}, {'connected_gene': 'NFKBIE', 'score': 10.52}, {'connected_gene': 'SLC35B2', 'score': 10.41}, {'connected_gene': 'CRIP3', 'score': 5.38}, {'connected_gene': 'PIR46189', 'score': 0.44}]
chr6 GH06I044082 44082697 44083100 0.33 [{'connected_gene': 'AARS2', 'score': 10.13}, {'connected_gene': 'MRPL14', 'score': 6.7}, {'connected_gene': 'LOC101929705', 'score': 0.44}, {'connected_gene': 'GC06M044090', 'score': 0.44}]
chr6 GH06I044129 44129920 44130793 0.89 [{'connected_gene': 'AARS2', 'score': 10.79}, {'connected_gene': 'SLC35B2', 'score': 10.53}, {'connected_gene': 'NFKBIE', 'score': 10.52}, {'connected_gene': 'TMEM151B', 'score': 9.76}, {'connected_gene': 'TMEM63B', 'score': 6.86}, {'connected_gene': 'MRPL14', 'score': 0.77}, {'connected_gene': 'PIR60878', 'score': 0.34}]
chr6 GH06I044154 44154717 44157482 1.13 [{'connected_gene': 'TMEM63B', 'score': 17.27}, {'connected_gene': 'MRPL14', 'score': 7.96}, {'connected_gene': 'SRF', 'score': 5.45}, {'connected_gene': 'CAPN11', 'score': 0.77}, {'connected_gene': 'PIR60878', 'score': 0.77}]
chr6 GH06I044056 44056241 44068274 1.86 [{'connected_gene': 'POLH', 'score': 33.72}, {'connected_gene': 'GTPBP2', 'score': 33.16}, {'connected_gene': 'NFKBIE', 'score': 30.61}, {'connected_gene': 'ZNF318', 'score': 22.8}, {'connected_gene': 'MRPL14', 'score': 17.02}, {'connected_gene': 'TMEM63B', 'score': 16.44}, {'connected_gene': 'VEGFA', 'score': 13.18}, {'connected_gene': 'SLC35B2', 'score': 11.51}, {'connected_gene': 'CDC5L', 'score': 10.55}, {'connected_gene': 'ABCC10', 'score': 10.48}, {'connected_gene': 'AARS2', 'score': 9.47}, {'connected_gene': 'MAD2L1BP', 'score': 2.23}, {'connected_gene': 'GC06M044069', 'score': 0.39}, {'connected_gene': 'LOC101929705', 'score': 0.39}, {'connected_gene': 'GC06P044013', 'score': 0.25}]
chr6 GH06I044283 44283529 44283845 0.24 [{'connected_gene': 'SLC35B2', 'score': 12.41}, {'connected_gene': 'AARS2', 'score': 11.35}, {'connected_gene': 'SPATS1', 'score': 11.06}, {'connected_gene': 'TMEM63B', 'score': 10.78}, {'connected_gene': 'MRPL14', 'score': 10.78}, {'connected_gene': 'TMEM151B', 'score': 8.7}, {'connected_gene': 'TCTE1', 'score': 1.74}, {'connected_gene': 'ENSG00000272442', 'score': 0.39}]
chr6 GH06I044104 44104198 44106047 0.78 [{'connected_gene': 'ZNF318', 'score': 49.74}, {'connected_gene': 'ENSG00000271970', 'score': 48.91}, {'connected_gene': 'ABCC10', 'score': 40.61}, {'connected_gene': 'AARS2', 'score': 39.17}, {'connected_gene': 'RPL34P14', 'score': 38.62}, {'connected_gene': 'POLR1C', 'score': 36.14}, {'connected_gene': 'SLC35B2', 'score': 28.94}, {'connected_gene': 'XPO5', 'score': 20.29}, {'connected_gene': 'MRPL14', 'score': 19.62}, {'connected_gene': 'CUL9', 'score': 13.0}, {'connected_gene': 'CAPN11', 'score': 12.15}, {'connected_gene': 'HSP90AB1', 'score': 10.97}, {'connected_gene': 'POLH-AS1', 'score': 10.9}, {'connected_gene': 'TMEM63B', 'score': 10.67}, {'connected_gene': 'TJAP1', 'score': 10.63}, {'connected_gene': 'NFKBIE', 'score': 10.56}, {'connected_gene': 'TMEM151B', 'score': 10.48}, {'connected_gene': 'SLC29A1', 'score': 10.42}, {'connected_gene': 'SPATS1', 'score': 10.03}, {'connected_gene': 'PIR46189', 'score': 0.44}, {'connected_gene': 'RPL29P16', 'score': 0.37}]
chr6 GH06I044040 44040234 44045150 1.75 [{'connected_gene': 'ZNF318', 'score': 85.89}, {'connected_gene': 'ABCC10', 'score': 78.37}, {'connected_gene': 'POLH', 'score': 74.43}, {'connected_gene': 'GTPBP2', 'score': 72.18}, {'connected_gene': 'CUL7', 'score': 66.48}, {'connected_gene': 'RPS2P29', 'score': 41.83}, {'connected_gene': 'RPL34P14', 'score': 32.15}, {'connected_gene': 'XPO5', 'score': 27.58}, {'connected_gene': 'POLR1C', 'score': 22.33}, {'connected_gene': 'SLC35B2', 'score': 21.73}, {'connected_gene': 'TJAP1', 'score': 18.55}, {'connected_gene': 'MYMX', 'score': 12.66}, {'connected_gene': 'AARS2', 'score': 11.62}, {'connected_gene': 'YIPF3', 'score': 10.87}, {'connected_gene': 'ENSG00000271970', 'score': 9.72}, {'connected_gene': 'MRPL14', 'score': 2.2}, {'connected_gene': 'C6orf223', 'score': 1.77}, {'connected_gene': 'VEGFA', 'score': 1.38}, {'connected_gene': 'GC06P044013', 'score': 0.31}, {'connected_gene': 'GC06M044069', 'score': 0.29}, {'connected_gene': 'LOC101929705', 'score': 0.29}]
chr6 GH06I043758 43758584 43758753 0.95 [{'connected_gene': 'RSPH9', 'score': 11.36}, {'connected_gene': 'ABCC10', 'score': 10.67}, {'connected_gene': 'TMEM63B', 'score': 10.61}, {'connected_gene': 'MRPL14', 'score': 10.61}, {'connected_gene': 'MAD2L1BP', 'score': 10.34}, {'connected_gene': 'GTPBP2', 'score': 10.34}, {'connected_gene': 'RPL7L1', 'score': 9.67}, {'connected_gene': 'VEGFA', 'score': 0.39}, {'connected_gene': 'ENSG00000236961', 'score': 0.34}, {'connected_gene': 'GC06P043362', 'score': 0.05}]
chr6 GH06I044216 44216010 44230324 2.59 [{'connected_gene': 'SLC29A1', 'score': 564.04}, {'connected_gene': 'GTPBP2', 'score': 31.19}, {'connected_gene': 'POLH', 'score': 24.62}, {'connected_gene': 'RPS2P29', 'score': 24.3}, {'connected_gene': 'ZNF318', 'score': 21.16}, {'connected_gene': 'ABCC10', 'score': 20.02}, {'connected_gene': 'YIPF3', 'score': 19.66}, {'connected_gene': 'MYMX', 'score': 18.84}, {'connected_gene': 'SLC35B2', 'score': 11.01}, {'connected_gene': 'RPL34P14', 'score': 10.29}, {'connected_gene': 'MRPL14', 'score': 1.46}, {'connected_gene': 'GC06P044215', 'score': 0.44}, {'connected_gene': 'GC06P044236', 'score': 0.39}]
chr6 GH06I044200 44200587 44204018 1.3 [{'connected_gene': 'SLC29A1', 'score': 38.34}, {'connected_gene': 'CAPN11', 'score': 21.84}, {'connected_gene': 'HSP90AB1', 'score': 11.5}, {'connected_gene': 'NFKBIE', 'score': 10.6}, {'connected_gene': 'TMEM151B', 'score': 10.59}, {'connected_gene': 'SLC35B2', 'score': 10.55}, {'connected_gene': 'MRPL14', 'score': 10.49}, {'connected_gene': 'TMEM63B', 'score': 10.48}, {'connected_gene': 'MYMX', 'score': 5.27}, {'connected_gene': 'RN7SL811P', 'score': 0.44}]
chr6 GH06I044292 44292214 44292273 0.5 [{'connected_gene': 'TCTE1', 'score': 550.44}, {'connected_gene': 'AARS2', 'score': 12.01}, {'connected_gene': 'NFKBIE', 'score': 11.51}, {'connected_gene': 'SLC35B2', 'score': 11.49}, {'connected_gene': 'SPATS1', 'score': 10.8}, {'connected_gene': 'TMEM63B', 'score': 10.18}, {'connected_gene': 'MRPL14', 'score': 10.17}, {'connected_gene': 'SLC29A1', 'score': 10.02}, {'connected_gene': 'ENSG00000272442', 'score': 0.37}, {'connected_gene': 'TMEM151B', 'score': 0.34}]
chr6 GH06I044121 44121401 44121600 0.46 [{'connected_gene': 'TCTE1', 'score': 5.89}, {'connected_gene': 'TMEM63B', 'score': 0.44}, {'connected_gene': 'MRPL14', 'score': 0.44}, {'connected_gene': 'PIR46189', 'score': 0.39}]
chr6 GH06I044096 44096824 44096973 0.85 [{'connected_gene': 'CAPN11', 'score': 12.29}, {'connected_gene': 'TMEM63B', 'score': 11.8}, {'connected_gene': 'MRPL14', 'score': 11.78}, {'connected_gene': 'VEGFA', 'score': 10.76}, {'connected_gene': 'AARS2', 'score': 10.75}, {'connected_gene': 'SLC29A1', 'score': 10.72}, {'connected_gene': 'HSP90AB1', 'score': 10.5}, {'connected_gene': 'NFKBIE', 'score': 10.38}, {'connected_gene': 'SLC35B2', 'score': 10.38}, {'connected_gene': 'TMEM151B', 'score': 10.29}, {'connected_gene': 'SPATS1', 'score': 9.7}, {'connected_gene': 'RPL29P16', 'score': 0.44}, {'connected_gene': 'PIR46189', 'score': 0.39}]
chr6 GH06I044206 44206801 44207000 0.76 [{'connected_gene': 'CAPN11', 'score': 11.73}, {'connected_gene': 'HSP90AB1', 'score': 11.51}, {'connected_gene': 'NFKBIE', 'score': 10.61}, {'connected_gene': 'TMEM151B', 'score': 10.6}, {'connected_gene': 'SLC35B2', 'score': 10.56}, {'connected_gene': 'MRPL14', 'score': 10.48}, {'connected_gene': 'TMEM63B', 'score': 10.47}, {'connected_gene': 'RN7SL811P', 'score': 0.77}, {'connected_gene': 'MYMX', 'score': 0.39}]
chr6 GH06I044204 44204124 44204273 0.82 [{'connected_gene': 'CAPN11', 'score': 11.73}, {'connected_gene': 'HSP90AB1', 'score': 11.5}, {'connected_gene': 'NFKBIE', 'score': 10.6}, {'connected_gene': 'TMEM151B', 'score': 10.59}, {'connected_gene': 'SLC35B2', 'score': 10.56}, {'connected_gene': 'TMEM63B', 'score': 10.48}, {'connected_gene': 'MRPL14', 'score': 10.48}, {'connected_gene': 'RN7SL811P', 'score': 0.44}, {'connected_gene': 'MYMX', 'score': 0.39}]
chr6 GH06I044113 44113611 44113838 0.31 [{'connected_gene': 'CAPN11', 'score': 12.03}, {'connected_gene': 'SLC29A1', 'score': 10.93}, {'connected_gene': 'MRPL14', 'score': 10.88}, {'connected_gene': 'NFKBIE', 'score': 10.51}, {'connected_gene': 'SLC35B2', 'score': 10.41}, {'connected_gene': 'PIR46189', 'score': 0.77}, {'connected_gene': 'TMEM63B', 'score': 0.39}]
chr6 GH06I044151 44151638 44152708 1.18 [{'connected_gene': 'PIR60878', 'score': 550.77}, {'connected_gene': 'ABCC10', 'score': 24.58}, {'connected_gene': 'ZNF318', 'score': 14.0}, {'connected_gene': 'GTPBP2', 'score': 12.7}, {'connected_gene': 'POLH', 'score': 11.95}, {'connected_gene': 'RPS2P29', 'score': 11.9}, {'connected_gene': 'TMEM63B', 'score': 11.89}, {'connected_gene': 'RPL34P14', 'score': 11.46}, {'connected_gene': 'CUL9', 'score': 10.93}, {'connected_gene': 'AARS2', 'score': 10.4}, {'connected_gene': 'MRPL14', 'score': 0.34}]
chr6 GH06I044109 44109559 44113435 1.11 [{'connected_gene': 'PIR46189', 'score': 550.77}, {'connected_gene': 'MRPL14', 'score': 19.72}, {'connected_gene': 'CAPN11', 'score': 12.03}, {'connected_gene': 'SLC29A1', 'score': 10.93}, {'connected_gene': 'TMEM63B', 'score': 10.78}, {'connected_gene': 'NFKBIE', 'score': 10.51}, {'connected_gene': 'SLC35B2', 'score': 10.41}, {'connected_gene': 'CRIP3', 'score': 4.19}]
chr6 GH06I044236 44236719 44239089 1.79 [{'connected_gene': 'GC06P044236', 'score': 550.77}, {'connected_gene': 'NFKBIE', 'score': 14.94}, {'connected_gene': 'CAPN11', 'score': 11.41}, {'connected_gene': 'TMEM63B', 'score': 11.14}, {'connected_gene': 'MRPL14', 'score': 11.14}, {'connected_gene': 'AARS2', 'score': 10.62}, {'connected_gene': 'SPATS1', 'score': 10.26}, {'connected_gene': 'RPL34P14', 'score': 9.97}, {'connected_gene': 'HSP90AB1', 'score': 5.82}, {'connected_gene': 'SLC29A1', 'score': 5.44}, {'connected_gene': 'VEGFA', 'score': 1.27}]
chr6 GH06I044071 44071244 44077836 2.08 [{'connected_gene': 'GC06M044069', 'score': 550.77}, {'connected_gene': 'LOC101929705', 'score': 550.77}, {'connected_gene': 'ENSG00000231881', 'score': 550.77}, {'connected_gene': 'ZNF318', 'score': 30.86}, {'connected_gene': 'GTPBP2', 'score': 30.12}, {'connected_gene': 'POLH', 'score': 28.64}, {'connected_gene': 'ABCC10', 'score': 26.14}, {'connected_gene': 'VEGFA', 'score': 14.42}, {'connected_gene': 'RPS2P29', 'score': 13.48}, {'connected_gene': 'RPL34P14', 'score': 12.93}, {'connected_gene': 'AARS2', 'score': 11.63}, {'connected_gene': 'YIPF3', 'score': 11.38}, {'connected_gene': 'SLC35B2', 'score': 10.58}, {'connected_gene': 'CDC5L', 'score': 10.55}, {'connected_gene': 'SPATS1', 'score': 9.76}, {'connected_gene': 'PTK7', 'score': 9.68}, {'connected_gene': 'MRPL14', 'score': 7.3}, {'connected_gene': 'TMEM63B', 'score': 5.29}, {'connected_gene': 'NFKBIE', 'score': 4.84}, {'connected_gene': 'C6orf223', 'score': 1.86}, {'connected_gene': 'MAD2L1BP', 'score': 1.47}]