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
ENST00000261483 [[109025066, 109026253], [109049220, 109049475], [109051820, 109051965], [109065042, 109065214], [109091029, 109091157], [109103235, 109103409], [109106055, 109106242], [109110488, 109110666], [109117096, 109117299], [109120444, 109120627], [109124634, 109124749], [109125160, 109125228], [109152973, 109153139], [109155369, 109155588], [109155920, 109156043], [109159423, 109159538], [109178028, 109178162], [109181565, 109181707], [109183357, 109183491], [109190840, 109191035], [109200736, 109200847], [109202546, 109202879]] [[109026118, 109026253], [109049220, 109049475], [109051820, 109051965], [109065042, 109065214], [109091029, 109091157], [109103235, 109103409], [109106055, 109106242], [109110488, 109110666], [109117096, 109117299], [109120444, 109120627], [109124634, 109124749], [109125160, 109125228], [109152973, 109153139], [109155369, 109155588], [109155920, 109156043], [109159423, 109159538], [109178028, 109178162], [109181565, 109181707], [109183357, 109183491], [109190840, 109191035], [109200736, 109200847], [109202546, 109202699]]
ENST00000502261 [[109129875, 109129938], [109152973, 109153139], [109155369, 109155588]] None
ENST00000508043 [[109139876, 109139978], [109152973, 109153139], [109155369, 109155588], [109155920, 109155979]] None
ENST00000513921 [[109189281, 109191035], [109200736, 109200847], [109202546, 109202874]] None
ENST00000505313 [[109190622, 109191035], [109200736, 109201116]] None
ENST00000503970 [[109198028, 109200847], [109202546, 109205326]] None
NM_002372 [[109025066, 109026253], [109049220, 109049475], [109051820, 109051965], [109065042, 109065214], [109091029, 109091157], [109103235, 109103409], [109106055, 109106242], [109110488, 109110666], [109117096, 109117299], [109120444, 109120627], [109124634, 109124749], [109125160, 109125228], [109152973, 109153139], [109155369, 109155588], [109155920, 109156043], [109159423, 109159538], [109178028, 109178162], [109181565, 109181707], [109183357, 109183491], [109190840, 109191035], [109200736, 109200847], [109202546, 109205326]] [[109026118, 109026253], [109049220, 109049475], [109051820, 109051965], [109065042, 109065214], [109091029, 109091157], [109103235, 109103409], [109106055, 109106242], [109110488, 109110666], [109117096, 109117299], [109120444, 109120627], [109124634, 109124749], [109125160, 109125228], [109152973, 109153139], [109155369, 109155588], [109155920, 109156043], [109159423, 109159538], [109178028, 109178162], [109181565, 109181707], [109183357, 109183491], [109190840, 109191035], [109200736, 109200847], [109202546, 109202699]]
Promoter
Chrom Start End Description
chr5 109025067 109025146 CAGE_peak_2_at_MAN2A1_5end
chr5 109025262 109025274 CAGE_peak_7_at_MAN2A1_5end
chr5 109025440 109025461 CAGE_peak_8_at_MAN2A1_5end
chr5 109025462 109025484 CAGE_peak_11_at_MAN2A1_5end
chr5 109025587 109025598 CAGE_peak_4_at_MAN2A1_5end
chr5 109025616 109025640 CAGE_peak_1_at_MAN2A1_5end
chr5 109025646 109025655 CAGE_peak_5_at_MAN2A1_5end
chr5 109025744 109025756 CAGE_peak_3_at_MAN2A1_5end
chr5 109025860 109025871 CAGE_peak_9_at_MAN2A1_5end
chr5 109025976 109026006 CAGE_peak_12_at_MAN2A1_5end
chr5 109026049 109026067 CAGE_peak_13_at_MAN2A1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I109406 109406888 109412486 2.59 [{'connected_gene': 'PJA2', 'score': 563.32}, {'connected_gene': 'LOC285638', 'score': 40.62}, {'connected_gene': 'LINC01023', 'score': 12.29}, {'connected_gene': 'MAN2A1', 'score': 3.6}, {'connected_gene': 'GC05P109401', 'score': 0.44}]
chr5 GH05I109643 109643828 109646644 0.72 [{'connected_gene': 'MAN2A1', 'score': 5.89}, {'connected_gene': 'PJA2', 'score': 5.56}, {'connected_gene': 'RN7SKP230', 'score': 4.45}, {'connected_gene': 'LOC105379118', 'score': 0.34}, {'connected_gene': 'PIR59063', 'score': 0.29}]
chr5 GH05I109652 109652926 109654143 0.38 [{'connected_gene': 'MAN2A1', 'score': 12.73}, {'connected_gene': 'LOC285638', 'score': 6.0}, {'connected_gene': 'LOC105379118', 'score': 0.39}, {'connected_gene': 'PIR59063', 'score': 0.26}]
chr5 GH05I109688 109688343 109697332 2.49 [{'connected_gene': 'MAN2A1', 'score': 550.77}, {'connected_gene': 'RN7SKP230', 'score': 11.39}, {'connected_gene': 'ENSG00000271849', 'score': 7.56}, {'connected_gene': 'LOC285638', 'score': 4.58}, {'connected_gene': 'GC05M109700', 'score': 0.44}]
chr5 GH05I109649 109649196 109650091 0.31 [{'connected_gene': 'MAN2A1', 'score': 12.73}, {'connected_gene': 'LOC105379118', 'score': 0.37}, {'connected_gene': 'PIR59063', 'score': 0.28}]
chr5 GH05I109654 109654550 109655001 0.31 [{'connected_gene': 'MAN2A1', 'score': 12.75}, {'connected_gene': 'LOC105379118', 'score': 0.39}, {'connected_gene': 'PIR59063', 'score': 0.26}]
chr5 GH05I109655 109655744 109657882 1.3 [{'connected_gene': 'MAN2A1', 'score': 16.89}, {'connected_gene': 'ENSG00000271849', 'score': 5.62}, {'connected_gene': 'LOC105379118', 'score': 0.44}, {'connected_gene': 'PIR59063', 'score': 0.26}]
chr5 GH05I109628 109628303 109631078 0.38 [{'connected_gene': 'LOC285638', 'score': 9.05}, {'connected_gene': 'PJA2', 'score': 5.57}, {'connected_gene': 'ENSG00000271849', 'score': 4.99}, {'connected_gene': 'MAN2A1', 'score': 4.9}, {'connected_gene': 'PIR59063', 'score': 0.37}, {'connected_gene': 'LOC105379118', 'score': 0.28}]
chr5 GH05I109863 109863491 109867260 1.04 [{'connected_gene': 'LOC285638', 'score': 5.75}, {'connected_gene': 'RN7SKP230', 'score': 5.33}, {'connected_gene': 'ENSG00000271849', 'score': 4.52}, {'connected_gene': 'GC05P109871', 'score': 0.44}, {'connected_gene': 'CT45B1P', 'score': 0.34}, {'connected_gene': 'MAN2A1', 'score': 0.1}]
chr5 GH05I109742 109742006 109745220 1.07 [{'connected_gene': 'RN7SKP230', 'score': 11.6}, {'connected_gene': 'MAN2A1', 'score': 11.14}, {'connected_gene': 'ENSG00000271849', 'score': 4.94}, {'connected_gene': 'GC05P109723', 'score': 0.37}, {'connected_gene': 'GC05M109796', 'score': 0.22}]
chr5 GH05I109697 109697400 109697601 0.56 [{'connected_gene': 'RN7SKP230', 'score': 0.77}, {'connected_gene': 'GC05M109700', 'score': 0.77}, {'connected_gene': 'MAN2A1', 'score': 0.44}]
chr5 GH05I109758 109758810 109759841 0.63 [{'connected_gene': 'RN7SKP230', 'score': 9.44}, {'connected_gene': 'ENSG00000271849', 'score': 4.74}, {'connected_gene': 'GC05P109723', 'score': 0.28}, {'connected_gene': 'GC05M109796', 'score': 0.26}, {'connected_gene': 'MAN2A1', 'score': 0.2}]
chr5 GH05I109739 109739280 109741649 0.8 [{'connected_gene': 'RN7SKP230', 'score': 9.94}, {'connected_gene': 'LOC285638', 'score': 5.49}, {'connected_gene': 'ENSG00000271849', 'score': 5.3}, {'connected_gene': 'GC05P109723', 'score': 0.37}, {'connected_gene': 'MAN2A1', 'score': 0.23}, {'connected_gene': 'GC05M109796', 'score': 0.21}]
chr5 GH05I109704 109704057 109710486 1.11 [{'connected_gene': 'RN7SKP230', 'score': 12.16}, {'connected_gene': 'LOC285638', 'score': 5.49}, {'connected_gene': 'ENSG00000271849', 'score': 5.12}, {'connected_gene': 'GC05M109698', 'score': 0.77}, {'connected_gene': 'GC05P109723', 'score': 0.37}, {'connected_gene': 'MAN2A1', 'score': 0.37}]
chr5 GH05I109837 109837760 109838602 0.46 [{'connected_gene': 'CT45B1P', 'score': 0.77}, {'connected_gene': 'GC05M109796', 'score': 0.28}, {'connected_gene': 'MAN2A1', 'score': 0.11}]
chr5 GH05I109849 109849130 109850016 0.31 [{'connected_gene': 'LINC01848', 'score': 11.03}, {'connected_gene': 'MAN2A1', 'score': 10.4}, {'connected_gene': 'LOC285638', 'score': 5.08}, {'connected_gene': 'ENSG00000271849', 'score': 4.56}, {'connected_gene': 'CT45B1P', 'score': 0.44}, {'connected_gene': 'GC05P109871', 'score': 0.34}]
chr5 GH05I109844 109844364 109845347 0.54 [{'connected_gene': 'LINC01848', 'score': 10.49}, {'connected_gene': 'MAN2A1', 'score': 10.13}, {'connected_gene': 'RN7SKP230', 'score': 7.94}, {'connected_gene': 'LOC285638', 'score': 5.47}, {'connected_gene': 'CT45B1P', 'score': 0.77}, {'connected_gene': 'GC05P109871', 'score': 0.31}]
chr5 GH05I109920 109920757 109923955 1.04 [{'connected_gene': 'LINC01848', 'score': 11.3}, {'connected_gene': 'MAN2A1', 'score': 1.28}, {'connected_gene': 'GC05P109911', 'score': 0.39}, {'connected_gene': 'PIR60171', 'score': 0.08}]
chr5 GH05I109856 109856221 109859101 0.74 [{'connected_gene': 'LINC01848', 'score': 11.0}, {'connected_gene': 'RN7SKP230', 'score': 6.4}, {'connected_gene': 'LOC285638', 'score': 5.44}, {'connected_gene': 'ENSG00000271849', 'score': 4.48}, {'connected_gene': 'GC05P109871', 'score': 0.39}, {'connected_gene': 'CT45B1P', 'score': 0.37}, {'connected_gene': 'MAN2A1', 'score': 0.1}]
chr5 GH05I109612 109612432 109612831 0.63 [{'connected_gene': 'PIR59063', 'score': 550.77}, {'connected_gene': 'MAN2A1', 'score': 12.51}, {'connected_gene': 'LOC285638', 'score': 4.32}, {'connected_gene': 'LOC105379118', 'score': 0.23}]
chr5 GH05I109748 109748600 109748801 0.31 [{'connected_gene': 'GC05P109723', 'score': 0.34}, {'connected_gene': 'GC05M109796', 'score': 0.23}, {'connected_gene': 'MAN2A1', 'score': 0.22}]