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
ENST00000372165 [[43612782, 43613062], [43618111, 43618277], [43623343, 43623428], [43624313, 43624460], [43634160, 43634257], [43638525, 43640336]] [[43612835, 43613062], [43618111, 43618277], [43623343, 43623428], [43624313, 43624460], [43634160, 43634257], [43638525, 43638724]]
ENST00000372163 [[43612782, 43613062], [43618111, 43618277], [43623298, 43623428], [43624313, 43624460], [43638525, 43640336]] [[43612835, 43613062], [43618111, 43618277], [43623298, 43623428], [43624313, 43624460], [43638525, 43638686]]
NM_001193341 [[43612766, 43613062], [43618111, 43618277], [43623343, 43623428], [43624313, 43624460], [43634160, 43634257], [43638525, 43638748]] [[43612835, 43613062], [43618111, 43618277], [43623343, 43623428], [43624313, 43624460], [43634160, 43634257], [43638525, 43638724]]
NM_152732 [[43612766, 43613062], [43618111, 43618277], [43623298, 43623428], [43624313, 43624460], [43638525, 43638748]] [[43612835, 43613062], [43618111, 43618277], [43623298, 43623428], [43624313, 43624460], [43638525, 43638686]]
Promoter
Chrom Start End Description
chr6 43612750 43612791 CAGE_peak_2_at_RSPH9_5end
chr6 43612793 43612833 CAGE_peak_1_at_RSPH9_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I043634 43634917 43636996 2.3 [{'connected_gene': 'MAD2L1BP', 'score': 550.44}, {'connected_gene': 'GTPBP2', 'score': 31.9}, {'connected_gene': 'RRP36', 'score': 24.7}, {'connected_gene': 'ZNF318', 'score': 23.89}, {'connected_gene': 'POLH', 'score': 23.04}, {'connected_gene': 'ABCC10', 'score': 21.44}, {'connected_gene': 'CUL7', 'score': 19.84}, {'connected_gene': 'RPL34P14', 'score': 12.8}, {'connected_gene': 'TJAP1', 'score': 11.48}, {'connected_gene': 'RPS2P29', 'score': 11.48}, {'connected_gene': 'AARS2', 'score': 10.64}, {'connected_gene': 'RSPH9', 'score': 8.77}, {'connected_gene': 'GC06P043642', 'score': 0.77}, {'connected_gene': 'PIR58165', 'score': 0.77}, {'connected_gene': 'GC06P043362', 'score': 0.06}]
chr6 GH06I043476 43476682 43479135 2 [{'connected_gene': 'TJAP1', 'score': 550.77}, {'connected_gene': 'MYMX', 'score': 12.57}, {'connected_gene': 'RSPH9', 'score': 7.42}, {'connected_gene': 'GC06P043482', 'score': 0.77}, {'connected_gene': 'GC06P043362', 'score': 0.13}]
chr6 GH06I043746 43746119 43747399 0.46 [{'connected_gene': 'VEGFA', 'score': 11.7}, {'connected_gene': 'RSPH9', 'score': 10.96}, {'connected_gene': 'MAD2L1BP', 'score': 10.68}, {'connected_gene': 'GTPBP2', 'score': 10.68}, {'connected_gene': 'DLK2', 'score': 8.81}, {'connected_gene': 'ENSG00000236961', 'score': 0.44}, {'connected_gene': 'GC06P043362', 'score': 0.05}]
chr6 GH06I043667 43667158 43671093 1.66 [{'connected_gene': 'VEGFA', 'score': 14.0}, {'connected_gene': 'RSPH9', 'score': 12.09}, {'connected_gene': 'MAD2L1BP', 'score': 12.03}, {'connected_gene': 'GTPBP2', 'score': 12.03}, {'connected_gene': 'RPS2P29', 'score': 10.36}, {'connected_gene': 'ENSG00000252218', 'score': 10.36}, {'connected_gene': 'GC06P043678', 'score': 0.44}, {'connected_gene': 'GC06P043677', 'score': 0.44}, {'connected_gene': 'GC06P043362', 'score': 0.06}]
chr6 GH06I043694 43694385 43697111 1.12 [{'connected_gene': 'VEGFA', 'score': 11.38}, {'connected_gene': 'RSPH9', 'score': 11.11}, {'connected_gene': 'MAD2L1BP', 'score': 11.09}, {'connected_gene': 'GTPBP2', 'score': 11.09}, {'connected_gene': 'DNPH1', 'score': 4.55}, {'connected_gene': 'GC06P043698', 'score': 0.77}, {'connected_gene': 'MRPS18A', 'score': 0.44}, {'connected_gene': 'GC06P043362', 'score': 0.06}]
chr6 GH06I043486 43486626 43487766 0.2 [{'connected_gene': 'DLK2', 'score': 11.89}, {'connected_gene': 'POLR1C', 'score': 11.67}, {'connected_gene': 'LRRC73', 'score': 11.67}, {'connected_gene': 'YIPF3', 'score': 11.64}, {'connected_gene': 'RPS2P29', 'score': 10.76}, {'connected_gene': 'ENSG00000252218', 'score': 10.75}, {'connected_gene': 'DNPH1', 'score': 10.37}, {'connected_gene': 'TTBK1', 'score': 10.37}, {'connected_gene': 'MAD2L1BP', 'score': 9.58}, {'connected_gene': 'GTPBP2', 'score': 9.58}, {'connected_gene': 'RSPH9', 'score': 9.57}, {'connected_gene': 'TJAP1', 'score': 0.44}, {'connected_gene': 'GC06P043482', 'score': 0.44}, {'connected_gene': 'GC06P043362', 'score': 0.13}]
chr6 GH06I043484 43484870 43486167 0.31 [{'connected_gene': 'DLK2', 'score': 12.2}, {'connected_gene': 'POLR1C', 'score': 11.67}, {'connected_gene': 'LRRC73', 'score': 11.64}, {'connected_gene': 'YIPF3', 'score': 11.62}, {'connected_gene': 'RPS2P29', 'score': 10.76}, {'connected_gene': 'ENSG00000252218', 'score': 10.75}, {'connected_gene': 'DNPH1', 'score': 10.37}, {'connected_gene': 'TTBK1', 'score': 10.37}, {'connected_gene': 'MAD2L1BP', 'score': 9.58}, {'connected_gene': 'GTPBP2', 'score': 9.58}, {'connected_gene': 'RSPH9', 'score': 9.57}, {'connected_gene': 'GC06P043482', 'score': 0.77}, {'connected_gene': 'TJAP1', 'score': 0.44}, {'connected_gene': 'GC06P043362', 'score': 0.13}]
chr6 GH06I043708 43708647 43710624 1.18 [{'connected_gene': 'MRPS18A', 'score': 11.77}, {'connected_gene': 'RSPH9', 'score': 11.17}, {'connected_gene': 'MAD2L1BP', 'score': 11.14}, {'connected_gene': 'GTPBP2', 'score': 11.14}, {'connected_gene': 'LOC100132242', 'score': 0.77}, {'connected_gene': 'ENSG00000236961', 'score': 0.31}, {'connected_gene': 'GC06P043362', 'score': 0.05}]
chr6 GH06I043712 43712442 43713190 0.38 [{'connected_gene': 'MRPS18A', 'score': 11.74}, {'connected_gene': 'RSPH9', 'score': 11.17}, {'connected_gene': 'MAD2L1BP', 'score': 11.14}, {'connected_gene': 'GTPBP2', 'score': 11.14}, {'connected_gene': 'LOC100132242', 'score': 0.44}, {'connected_gene': 'ENSG00000236961', 'score': 0.31}, {'connected_gene': 'GC06P043362', 'score': 0.05}]
chr6 GH06I043686 43686810 43688634 2.24 [{'connected_gene': 'MRPS18A', 'score': 550.77}, {'connected_gene': 'MYMX', 'score': 12.58}, {'connected_gene': 'RSPH9', 'score': 10.57}, {'connected_gene': 'MAD2L1BP', 'score': 10.53}, {'connected_gene': 'GTPBP2', 'score': 10.53}, {'connected_gene': 'GC06M043677', 'score': 0.44}, {'connected_gene': 'GC06P043362', 'score': 0.05}]
chr6 GH06I043624 43624351 43631726 2.34 [{'connected_gene': 'GTPBP2', 'score': 618.69}, {'connected_gene': 'MAD2L1BP', 'score': 550.77}, {'connected_gene': 'POLH', 'score': 61.08}, {'connected_gene': 'ZNF318', 'score': 57.24}, {'connected_gene': 'ABCC10', 'score': 53.86}, {'connected_gene': 'RRP36', 'score': 42.88}, {'connected_gene': 'RPS2P29', 'score': 35.13}, {'connected_gene': 'CUL7', 'score': 33.91}, {'connected_gene': 'BICRAL', 'score': 21.63}, {'connected_gene': 'XPO5', 'score': 14.05}, {'connected_gene': 'POLR1C', 'score': 13.55}, {'connected_gene': 'RPL34P14', 'score': 12.96}, {'connected_gene': 'MYMX', 'score': 12.57}, {'connected_gene': 'PEX6', 'score': 12.41}, {'connected_gene': 'AARS2', 'score': 11.59}, {'connected_gene': 'YIPF3', 'score': 11.49}, {'connected_gene': 'SLC35B2', 'score': 10.74}, {'connected_gene': 'ENSG00000271754', 'score': 10.61}, {'connected_gene': 'ENSG00000272223', 'score': 9.83}, {'connected_gene': 'PTK7', 'score': 9.69}, {'connected_gene': 'RSPH9', 'score': 8.7}, {'connected_gene': 'PIR56550', 'score': 0.44}, {'connected_gene': 'GC06P043623', 'score': 0.44}, {'connected_gene': 'GC06P043362', 'score': 0.06}]
chr6 GH06I043723 43723602 43726212 1.74 [{'connected_gene': 'GTPBP2', 'score': 40.08}, {'connected_gene': 'ABCC10', 'score': 29.2}, {'connected_gene': 'ZNF318', 'score': 25.3}, {'connected_gene': 'POLH', 'score': 25.05}, {'connected_gene': 'BICRAL', 'score': 22.74}, {'connected_gene': 'RPS2P29', 'score': 14.49}, {'connected_gene': 'RRP36', 'score': 12.64}, {'connected_gene': 'MAD2L1BP', 'score': 12.28}, {'connected_gene': 'VEGFA', 'score': 12.03}, {'connected_gene': 'MRPS18A', 'score': 11.59}, {'connected_gene': 'RSPH9', 'score': 11.2}, {'connected_gene': 'CAPN11', 'score': 10.28}, {'connected_gene': 'TJAP1', 'score': 10.23}, {'connected_gene': 'CUL7', 'score': 10.19}, {'connected_gene': 'SLC35B2', 'score': 9.93}, {'connected_gene': 'NFKBIE', 'score': 9.93}, {'connected_gene': 'KLHDC3', 'score': 4.91}, {'connected_gene': 'ENSG00000236961', 'score': 0.39}, {'connected_gene': 'LOC100132242', 'score': 0.37}, {'connected_gene': 'GC06P043362', 'score': 0.05}]
chr6 GH06I043608 43608404 43608573 0.85 [{'connected_gene': 'POLH', 'score': 30.2}, {'connected_gene': 'XPO5', 'score': 25.18}, {'connected_gene': 'RPS2P29', 'score': 24.83}, {'connected_gene': 'GTPBP2', 'score': 24.8}, {'connected_gene': 'POLR1C', 'score': 24.1}, {'connected_gene': 'ZNF318', 'score': 17.88}, {'connected_gene': 'ENSG00000271970', 'score': 12.6}, {'connected_gene': 'RSPH9', 'score': 11.93}, {'connected_gene': 'MAD2L1BP', 'score': 11.52}, {'connected_gene': 'RRP36', 'score': 11.38}, {'connected_gene': 'ENSG00000252218', 'score': 11.04}, {'connected_gene': 'YIPF3', 'score': 10.68}, {'connected_gene': 'ENSG00000271754', 'score': 10.63}, {'connected_gene': 'LRRC73', 'score': 10.55}, {'connected_gene': 'PIR56550', 'score': 0.39}, {'connected_gene': 'GC06P043623', 'score': 0.39}, {'connected_gene': 'POLH-AS1', 'score': 0.37}, {'connected_gene': 'GC06P043362', 'score': 0.07}]
chr6 GH06I043701 43701321 43704478 1.49 [{'connected_gene': 'POLH', 'score': 51.32}, {'connected_gene': 'ZNF318', 'score': 49.8}, {'connected_gene': 'GTPBP2', 'score': 45.41}, {'connected_gene': 'XPO5', 'score': 29.77}, {'connected_gene': 'POLR1C', 'score': 23.46}, {'connected_gene': 'RPS2P29', 'score': 21.81}, {'connected_gene': 'ABCC10', 'score': 12.97}, {'connected_gene': 'BICRAL', 'score': 12.41}, {'connected_gene': 'CUL7', 'score': 12.19}, {'connected_gene': 'RRP36', 'score': 11.37}, {'connected_gene': 'RSPH9', 'score': 11.27}, {'connected_gene': 'MAD2L1BP', 'score': 11.01}, {'connected_gene': 'CUL9', 'score': 10.94}, {'connected_gene': 'RPL24P4', 'score': 10.61}, {'connected_gene': 'VEGFA', 'score': 10.56}, {'connected_gene': 'ENSG00000271754', 'score': 10.55}, {'connected_gene': 'AARS2', 'score': 10.33}, {'connected_gene': 'CDC5L', 'score': 9.98}, {'connected_gene': 'LOC100132242', 'score': 0.77}, {'connected_gene': 'GC06P043698', 'score': 0.77}, {'connected_gene': 'GC06P043362', 'score': 0.05}]
chr6 GH06I044033 44033804 44037400 1.42 [{'connected_gene': 'NFKBIE', 'score': 13.83}, {'connected_gene': 'C6orf223', 'score': 12.99}, {'connected_gene': 'VEGFA', 'score': 12.84}, {'connected_gene': 'RSPH9', 'score': 10.24}, {'connected_gene': 'SLC29A1', 'score': 9.53}, {'connected_gene': 'GTPBP2', 'score': 1.58}, {'connected_gene': 'MAD2L1BP', 'score': 1.37}, {'connected_gene': 'GC06P044013', 'score': 0.34}, {'connected_gene': 'GC06M044069', 'score': 0.28}, {'connected_gene': 'LOC101929705', 'score': 0.28}]
chr6 GH06I043713 43713773 43717449 1.38 [{'connected_gene': 'ZNF318', 'score': 28.55}, {'connected_gene': 'XPO5', 'score': 23.15}, {'connected_gene': 'POLR1C', 'score': 19.94}, {'connected_gene': 'CDC5L', 'score': 12.71}, {'connected_gene': 'POLH', 'score': 12.16}, {'connected_gene': 'MRPS18A', 'score': 11.74}, {'connected_gene': 'RSPH9', 'score': 11.16}, {'connected_gene': 'MAD2L1BP', 'score': 11.13}, {'connected_gene': 'GTPBP2', 'score': 11.13}, {'connected_gene': 'RPL34P14', 'score': 9.96}, {'connected_gene': 'NFKBIE', 'score': 9.78}, {'connected_gene': 'SLC35B2', 'score': 9.77}, {'connected_gene': 'TMEM151B', 'score': 9.71}, {'connected_gene': 'LOC100132242', 'score': 0.44}, {'connected_gene': 'ENSG00000236961', 'score': 0.34}, {'connected_gene': 'GC06P043362', 'score': 0.05}]
chr6 GH06I043671 43671334 43672809 1.07 [{'connected_gene': 'RSPH9', 'score': 11.76}, {'connected_gene': 'MAD2L1BP', 'score': 11.6}, {'connected_gene': 'GTPBP2', 'score': 11.6}, {'connected_gene': 'VEGFA', 'score': 10.48}, {'connected_gene': 'GC06P043677', 'score': 0.44}, {'connected_gene': 'GC06P043678', 'score': 0.44}, {'connected_gene': 'MRPS18A', 'score': 0.37}, {'connected_gene': 'GC06P043362', 'score': 0.06}]
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 GH06I043604 43604304 43604413 0.46 [{'connected_gene': 'RSPH9', 'score': 11.92}, {'connected_gene': 'GTPBP2', 'score': 11.52}, {'connected_gene': 'MAD2L1BP', 'score': 11.5}, {'connected_gene': 'XPO5', 'score': 11.38}, {'connected_gene': 'POLH', 'score': 11.38}, {'connected_gene': 'ENSG00000252218', 'score': 11.04}, {'connected_gene': 'RPS2P29', 'score': 11.04}, {'connected_gene': 'YIPF3', 'score': 10.69}, {'connected_gene': 'POLR1C', 'score': 10.68}, {'connected_gene': 'LRRC73', 'score': 10.56}, {'connected_gene': 'PIR56550', 'score': 0.39}, {'connected_gene': 'GC06P043623', 'score': 0.39}, {'connected_gene': 'POLH-AS1', 'score': 0.39}, {'connected_gene': 'GC06P043362', 'score': 0.07}]
chr6 GH06I043151 43150031 43150305 0.66 [{'connected_gene': 'RSPH9', 'score': 3.54}, {'connected_gene': 'LRRC73', 'score': 2.92}, {'connected_gene': 'MAD2L1BP', 'score': 2.12}, {'connected_gene': 'SRF', 'score': 0.34}, {'connected_gene': 'PIR51341', 'score': 0.21}, {'connected_gene': 'PTK7', 'score': 0.19}]
chr6 GH06I043644 43644501 43645961 1.66 [{'connected_gene': 'RSPH9', 'score': 562.39}, {'connected_gene': 'GC06P043677', 'score': 0.29}, {'connected_gene': 'GC06P043678', 'score': 0.29}, {'connected_gene': 'GC06P043362', 'score': 0.06}]
chr6 GH06I044028 44028776 44030228 0.77 [{'connected_gene': 'C6orf223', 'score': 13.03}, {'connected_gene': 'RSPH9', 'score': 10.24}, {'connected_gene': 'SLC29A1', 'score': 9.52}, {'connected_gene': 'GC06P044013', 'score': 0.37}, {'connected_gene': 'GC06M044069', 'score': 0.26}, {'connected_gene': 'LOC101929705', 'score': 0.25}]
chr6 GH06I044030 44030975 44031526 0.2 [{'connected_gene': 'C6orf223', 'score': 13.01}, {'connected_gene': 'RSPH9', 'score': 10.25}, {'connected_gene': 'SLC29A1', 'score': 9.53}, {'connected_gene': 'GC06P044013', 'score': 0.37}, {'connected_gene': 'LOC101929705', 'score': 0.26}, {'connected_gene': 'GC06M044069', 'score': 0.26}]
chr6 GH06I044027 44027493 44028405 0.31 [{'connected_gene': 'C6orf223', 'score': 13.03}, {'connected_gene': 'RSPH9', 'score': 10.24}, {'connected_gene': 'SLC29A1', 'score': 9.52}, {'connected_gene': 'GC06P044013', 'score': 0.39}, {'connected_gene': 'LOC101929705', 'score': 0.25}, {'connected_gene': 'GC06M044069', 'score': 0.25}]
chr6 GH06I043836 43836544 43836654 1.11 [{'connected_gene': 'CAPN11', 'score': 15.27}, {'connected_gene': 'TCTE1', 'score': 11.82}, {'connected_gene': 'VEGFA', 'score': 11.47}, {'connected_gene': 'ABCC10', 'score': 10.85}, {'connected_gene': 'RSPH9', 'score': 3.64}, {'connected_gene': 'LRRC73', 'score': 3.22}, {'connected_gene': 'MAD2L1BP', 'score': 1.65}, {'connected_gene': 'LOC105375069', 'score': 0.77}, {'connected_gene': 'LOC105375070', 'score': 0.28}, {'connected_gene': 'GC06P043362', 'score': 0.04}]
chr6 GH06I043901 43901924 43902073 0.92 [{'connected_gene': 'LOC105375067', 'score': 550.77}, {'connected_gene': 'VEGFA', 'score': 10.64}, {'connected_gene': 'RSPH9', 'score': 9.62}, {'connected_gene': 'MAD2L1BP', 'score': 9.61}, {'connected_gene': 'GTPBP2', 'score': 9.61}, {'connected_gene': 'LINC01512', 'score': 0.39}, {'connected_gene': 'GC06P043362', 'score': 0.03}]
chr6 GH06I043902 43901164 43901313 0.94 [{'connected_gene': 'LOC105375067', 'score': 550.77}, {'connected_gene': 'VEGFA', 'score': 10.64}, {'connected_gene': 'RSPH9', 'score': 9.62}, {'connected_gene': 'MAD2L1BP', 'score': 9.61}, {'connected_gene': 'GTPBP2', 'score': 9.61}, {'connected_gene': 'LINC01512', 'score': 0.39}, {'connected_gene': 'GC06P043362', 'score': 0.03}]
chr6 GH06I043704 43704684 43707990 1.38 [{'connected_gene': 'LOC100132242', 'score': 550.77}, {'connected_gene': 'VEGFA', 'score': 11.49}, {'connected_gene': 'RSPH9', 'score': 11.26}, {'connected_gene': 'MAD2L1BP', 'score': 11.15}, {'connected_gene': 'GTPBP2', 'score': 11.15}, {'connected_gene': 'GC06P043698', 'score': 0.44}, {'connected_gene': 'GC06P043362', 'score': 0.05}]
chr6 GH06I043506 43506600 43507332 1.31 [{'connected_gene': 'RPL34P14', 'score': 10.04}, {'connected_gene': 'RSPH9', 'score': 8.44}, {'connected_gene': 'POLR1C', 'score': 0.77}, {'connected_gene': 'LRRC73', 'score': 0.77}, {'connected_gene': 'GC06P043482', 'score': 0.31}, {'connected_gene': 'GC06P043362', 'score': 0.11}]
chr6 GH06I043698 43698160 43700400 1.27 [{'connected_gene': 'GC06P043698', 'score': 550.77}, {'connected_gene': 'ABCC10', 'score': 14.59}, {'connected_gene': 'AARS2', 'score': 11.46}, {'connected_gene': 'VEGFA', 'score': 11.38}, {'connected_gene': 'RSPH9', 'score': 11.28}, {'connected_gene': 'MAD2L1BP', 'score': 11.09}, {'connected_gene': 'GTPBP2', 'score': 11.07}, {'connected_gene': 'PEX6', 'score': 11.06}, {'connected_gene': 'CUL7', 'score': 10.59}, {'connected_gene': 'LRRC73', 'score': 4.85}, {'connected_gene': 'LOC100132242', 'score': 0.44}, {'connected_gene': 'GC06P043362', 'score': 0.05}]
chr6 GH06I043673 43673141 43675839 0.49 [{'connected_gene': 'GC06P043677', 'score': 0.77}, {'connected_gene': 'GC06P043678', 'score': 0.77}, {'connected_gene': 'MRPS18A', 'score': 0.39}, {'connected_gene': 'RSPH9', 'score': 0.31}, {'connected_gene': 'GC06P043362', 'score': 0.06}]
chr6 GH06I043578 43578411 43579813 0.49 [{'connected_gene': 'GC06P043577', 'score': 550.77}, {'connected_gene': 'RSPH9', 'score': 8.54}, {'connected_gene': 'POLH', 'score': 0.77}, {'connected_gene': 'POLH-AS1', 'score': 0.39}, {'connected_gene': 'GC06P043362', 'score': 0.08}]

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