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
ENST00000340781 [[205882175, 205884311], [205884488, 205884532], [205886410, 205886482], [205887967, 205888113], [205889303, 205889358], [205890693, 205890975], [205892209, 205892323], [205892462, 205892555], [205892671, 205892741], [205893510, 205893617], [205895662, 205895758], [205896338, 205896416], [205896619, 205896733], [205897029, 205897177], [205897954, 205898037], [205898331, 205898484], [205899019, 205899184], [205900987, 205901163], [205901829, 205901940], [205902072, 205902212], [205904823, 205904950]] [[205884019, 205884311], [205884488, 205884532], [205886410, 205886482], [205887967, 205888113], [205889303, 205889358], [205890693, 205890975], [205892209, 205892323], [205892462, 205892555], [205892671, 205892741], [205893510, 205893617], [205895662, 205895758], [205896338, 205896416], [205896619, 205896733], [205897029, 205897177], [205897954, 205898037], [205898331, 205898484], [205899019, 205899184], [205900987, 205901163], [205901829, 205901940], [205902072, 205902212], [205904823, 205904948]]
ENST00000367135 [[205882175, 205884532], [205886410, 205886482], [205887967, 205888113], [205889303, 205889358], [205890693, 205890975], [205892209, 205892323], [205892462, 205892555], [205892671, 205892741], [205893510, 205893617], [205895662, 205895758], [205896338, 205896416], [205896619, 205896733], [205897029, 205897177], [205897954, 205898037], [205898331, 205898484], [205899019, 205899184], [205900987, 205901163], [205901829, 205901940], [205902072, 205902212], [205904823, 205904966], [205912492, 205912588]] [[205884484, 205884532], [205886410, 205886482], [205887967, 205888113], [205889303, 205889358], [205890693, 205890975], [205892209, 205892323], [205892462, 205892555], [205892671, 205892741], [205893510, 205893617], [205895662, 205895758], [205896338, 205896416], [205896619, 205896733], [205897029, 205897177], [205897954, 205898037], [205898331, 205898484], [205899019, 205899184], [205900987, 205901163], [205901829, 205901940], [205902072, 205902212], [205904823, 205904948]]
ENST00000491127 [[205882181, 205884532], [205886410, 205886482], [205887967, 205888113], [205889303, 205889358], [205890693, 205890975], [205892209, 205892323], [205892462, 205892555], [205892671, 205892741], [205893510, 205893617], [205895662, 205895758], [205896338, 205896416], [205896619, 205896733], [205897029, 205897514]] None
ENST00000367134 [[205882181, 205884311], [205884488, 205884532], [205886410, 205886482], [205887967, 205888113], [205889303, 205889358], [205890693, 205890975], [205892209, 205892323], [205892462, 205892555], [205892671, 205892741], [205893510, 205893617], [205895662, 205895758], [205896338, 205896416], [205896619, 205896733], [205897029, 205897177], [205897954, 205898037], [205898331, 205898484], [205899019, 205899184], [205900987, 205901163], [205901829, 205901940], [205902072, 205902212], [205904823, 205904966], [205912492, 205912588]] [[205884019, 205884311], [205884488, 205884532], [205886410, 205886482], [205887967, 205888113], [205889303, 205889358], [205890693, 205890975], [205892209, 205892323], [205892462, 205892555], [205892671, 205892741], [205893510, 205893617], [205895662, 205895758], [205896338, 205896416], [205896619, 205896733], [205897029, 205897177], [205897954, 205898037], [205898331, 205898484], [205899019, 205899184], [205900987, 205901163], [205901829, 205901940], [205902072, 205902212], [205904823, 205904948]]
ENST00000461505 [[205892278, 205892323], [205892462, 205892555], [205892671, 205892741], [205893510, 205893873]] None
ENST00000469392 [[205896619, 205896733], [205897029, 205897177], [205897954, 205898037], [205898331, 205898484], [205899019, 205899420]] None
NM_052934 [[205882175, 205884532], [205886410, 205886482], [205887967, 205888113], [205889303, 205889358], [205890693, 205890975], [205892209, 205892323], [205892462, 205892555], [205892671, 205892741], [205893510, 205893617], [205895662, 205895758], [205896338, 205896416], [205896619, 205896733], [205897029, 205897177], [205897954, 205898037], [205898331, 205898484], [205899019, 205899184], [205900987, 205901163], [205901829, 205901940], [205902072, 205902212], [205904823, 205904966], [205912492, 205912588]] [[205884484, 205884532], [205886410, 205886482], [205887967, 205888113], [205889303, 205889358], [205890693, 205890975], [205892209, 205892323], [205892462, 205892555], [205892671, 205892741], [205893510, 205893617], [205895662, 205895758], [205896338, 205896416], [205896619, 205896733], [205897029, 205897177], [205897954, 205898037], [205898331, 205898484], [205899019, 205899184], [205900987, 205901163], [205901829, 205901940], [205902072, 205902212], [205904823, 205904948]]
NM_134325 [[205882175, 205884311], [205884488, 205884532], [205886410, 205886482], [205887967, 205888113], [205889303, 205889358], [205890693, 205890975], [205892209, 205892323], [205892462, 205892555], [205892671, 205892741], [205893510, 205893617], [205895662, 205895758], [205896338, 205896416], [205896619, 205896733], [205897029, 205897177], [205897954, 205898037], [205898331, 205898484], [205899019, 205899184], [205900987, 205901163], [205901829, 205901940], [205902072, 205902212], [205904823, 205904966], [205912492, 205912588]] [[205884019, 205884311], [205884488, 205884532], [205886410, 205886482], [205887967, 205888113], [205889303, 205889358], [205890693, 205890975], [205892209, 205892323], [205892462, 205892555], [205892671, 205892741], [205893510, 205893617], [205895662, 205895758], [205896338, 205896416], [205896619, 205896733], [205897029, 205897177], [205897954, 205898037], [205898331, 205898484], [205899019, 205899184], [205900987, 205901163], [205901829, 205901940], [205902072, 205902212], [205904823, 205904948]]
Promoter
Chrom Start End Description
chr1 205886505 205886551 CAGE_peak_2_at_SLC26A9_5end
chr1 205899165 205899172 CAGE_peak_8_at_SLC26A9_5end
chr1 205899180 205899197 CAGE_peak_3_at_SLC26A9_5end
chr1 205905031 205905037 CAGE_peak_4_at_SLC26A9_5end
chr1 205905161 205905166 CAGE_peak_5_at_SLC26A9_5end
chr1 205912577 205912593 CAGE_peak_1_at_SLC26A9_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I205786 205786351 205787978 1.03 [{'connected_gene': 'RAB29', 'score': 26.13}, {'connected_gene': 'PM20D1', 'score': 23.58}, {'connected_gene': 'SLC41A1', 'score': 11.99}, {'connected_gene': 'NUCKS1', 'score': 10.93}, {'connected_gene': 'SLC26A9', 'score': 10.01}, {'connected_gene': 'GC01M205795', 'score': 0.44}, {'connected_gene': 'LOC105371702', 'score': 0.39}]
chr1 GH01I205940 205940833 205940982 0.31 [{'connected_gene': 'RAB29', 'score': 9.82}, {'connected_gene': 'PM20D1', 'score': 6.81}, {'connected_gene': 'SLC26A9', 'score': 0.77}, {'connected_gene': 'LOC103021296', 'score': 0.44}]
chr1 GH01I205832 205832413 205832562 0.57 [{'connected_gene': 'RAB29', 'score': 10.82}, {'connected_gene': 'SLC26A9', 'score': 10.27}, {'connected_gene': 'PM20D1', 'score': 0.37}, {'connected_gene': 'SLC41A1', 'score': 0.37}]
chr1 GH01I206046 206046481 206054292 2.13 [{'connected_gene': 'RHEX', 'score': 553.91}, {'connected_gene': 'ELK4', 'score': 35.35}, {'connected_gene': 'EIF2D', 'score': 13.54}, {'connected_gene': 'ENSG00000252692', 'score': 11.91}, {'connected_gene': 'RPL7AP20', 'score': 11.76}, {'connected_gene': 'CTSE', 'score': 11.6}, {'connected_gene': 'ENSG00000226780', 'score': 10.69}, {'connected_gene': 'AVPR1B', 'score': 10.69}, {'connected_gene': 'SLC26A9', 'score': 10.08}, {'connected_gene': 'TMCC2', 'score': 9.89}, {'connected_gene': 'RBBP5', 'score': 9.77}, {'connected_gene': 'NUCKS1', 'score': 5.06}, {'connected_gene': 'PIR51502', 'score': 0.77}, {'connected_gene': 'GC01M206045', 'score': 0.77}]
chr1 GH01I205939 205939509 205940176 0.84 [{'connected_gene': 'ELK4', 'score': 15.18}, {'connected_gene': 'PM20D1', 'score': 12.15}, {'connected_gene': 'RAB29', 'score': 9.82}, {'connected_gene': 'SLC26A9', 'score': 0.77}, {'connected_gene': 'LOC103021296', 'score': 0.77}]
chr1 GH01I205825 205825738 205828151 0.62 [{'connected_gene': 'PM20D1', 'score': 27.29}, {'connected_gene': 'RAB29', 'score': 21.55}, {'connected_gene': 'NUCKS1', 'score': 10.47}, {'connected_gene': 'SLC26A9', 'score': 10.29}, {'connected_gene': 'SLC41A1', 'score': 0.39}]
chr1 GH01I205840 205840301 205843570 0.66 [{'connected_gene': 'PM20D1', 'score': 23.37}, {'connected_gene': 'RAB29', 'score': 19.73}, {'connected_gene': 'SLC41A1', 'score': 11.17}, {'connected_gene': 'SLC26A9', 'score': 9.85}]
chr1 GH01I205791 205791713 205793888 0.96 [{'connected_gene': 'PM20D1', 'score': 41.4}, {'connected_gene': 'RAB29', 'score': 23.23}, {'connected_gene': 'ELK4', 'score': 14.91}, {'connected_gene': 'DSTYK', 'score': 13.18}, {'connected_gene': 'EIF2D', 'score': 12.96}, {'connected_gene': 'SLC26A9', 'score': 11.28}, {'connected_gene': 'NUCKS1', 'score': 10.7}, {'connected_gene': 'GC01M205795', 'score': 0.77}, {'connected_gene': 'LOC105371702', 'score': 0.37}, {'connected_gene': 'SLC41A1', 'score': 0.34}]
chr1 GH01I205936 205936161 205938150 0.6 [{'connected_gene': 'PM20D1', 'score': 11.66}, {'connected_gene': 'RAB29', 'score': 9.82}, {'connected_gene': 'ELK4', 'score': 4.68}, {'connected_gene': 'LOC103021296', 'score': 0.77}, {'connected_gene': 'SLC26A9', 'score': 0.44}]
chr1 GH01I205930 205930308 205931528 0.63 [{'connected_gene': 'PM20D1', 'score': 21.12}, {'connected_gene': 'ENSG00000226780', 'score': 10.4}, {'connected_gene': 'AVPR1B', 'score': 10.4}, {'connected_gene': 'RAB29', 'score': 9.97}, {'connected_gene': 'RNU6-418P', 'score': 8.9}, {'connected_gene': 'ELK4', 'score': 5.59}, {'connected_gene': 'LOC103021296', 'score': 0.77}, {'connected_gene': 'SLC26A9', 'score': 0.39}, {'connected_gene': 'LOC284581', 'score': 0.2}]
chr1 GH01I205925 205925427 205926603 0.91 [{'connected_gene': 'PM20D1', 'score': 10.66}, {'connected_gene': 'ENSG00000226780', 'score': 10.4}, {'connected_gene': 'AVPR1B', 'score': 10.4}, {'connected_gene': 'MFSD4A', 'score': 10.32}, {'connected_gene': 'CTSE', 'score': 10.11}, {'connected_gene': 'RAB29', 'score': 9.99}, {'connected_gene': 'RNU6-418P', 'score': 9.0}, {'connected_gene': 'SLC26A9', 'score': 5.61}, {'connected_gene': 'LOC103021296', 'score': 0.44}, {'connected_gene': 'LOC284581', 'score': 0.21}]
chr1 GH01I205784 205784932 205785897 0.31 [{'connected_gene': 'PM20D1', 'score': 23.7}, {'connected_gene': 'SLC41A1', 'score': 11.99}, {'connected_gene': 'NUCKS1', 'score': 10.93}, {'connected_gene': 'SLC26A9', 'score': 10.78}, {'connected_gene': 'LOC105371702', 'score': 0.44}, {'connected_gene': 'GC01M205795', 'score': 0.39}]
chr1 GH01I205789 205789070 205790227 0.2 [{'connected_gene': 'PM20D1', 'score': 54.49}, {'connected_gene': 'SLC41A1', 'score': 12.02}, {'connected_gene': 'SLC26A9', 'score': 11.28}, {'connected_gene': 'NUCKS1', 'score': 10.93}, {'connected_gene': 'RAB29', 'score': 8.67}, {'connected_gene': 'GC01M205795', 'score': 0.44}, {'connected_gene': 'LOC105371702', 'score': 0.39}]
chr1 GH01I205913 205913633 205913782 0.63 [{'connected_gene': 'SLC26A9', 'score': 11.19}, {'connected_gene': 'RAB29', 'score': 10.95}, {'connected_gene': 'ENSG00000226780', 'score': 10.69}, {'connected_gene': 'AVPR1B', 'score': 10.69}, {'connected_gene': 'MFSD4A', 'score': 9.48}, {'connected_gene': 'LOC103021296', 'score': 0.34}, {'connected_gene': 'LOC284581', 'score': 0.23}]
chr1 GH01I205914 205914044 205916129 0.49 [{'connected_gene': 'SLC26A9', 'score': 12.16}, {'connected_gene': 'RAB29', 'score': 10.74}, {'connected_gene': 'ENSG00000226780', 'score': 10.54}, {'connected_gene': 'AVPR1B', 'score': 10.54}, {'connected_gene': 'MFSD4A', 'score': 9.86}, {'connected_gene': 'LOC103021296', 'score': 0.37}, {'connected_gene': 'LOC284581', 'score': 0.23}]
chr1 GH01I205919 205919000 205919600 1.18 [{'connected_gene': 'SLC26A9', 'score': 11.67}, {'connected_gene': 'ENSG00000226780', 'score': 10.54}, {'connected_gene': 'AVPR1B', 'score': 10.54}, {'connected_gene': 'RAB29', 'score': 10.51}, {'connected_gene': 'LOC103021296', 'score': 0.37}, {'connected_gene': 'LOC284581', 'score': 0.22}]
chr1 GH01I205920 205920200 205920600 0.4 [{'connected_gene': 'SLC26A9', 'score': 11.89}, {'connected_gene': 'SLC41A1', 'score': 10.96}, {'connected_gene': 'ENSG00000226780', 'score': 10.53}, {'connected_gene': 'AVPR1B', 'score': 10.53}, {'connected_gene': 'RAB29', 'score': 10.05}, {'connected_gene': 'LOC103021296', 'score': 0.39}, {'connected_gene': 'LOC284581', 'score': 0.22}]
chr1 GH01I205921 205920763 205921437 0.38 [{'connected_gene': 'SLC26A9', 'score': 11.89}, {'connected_gene': 'SLC41A1', 'score': 10.96}, {'connected_gene': 'ENSG00000226780', 'score': 10.53}, {'connected_gene': 'AVPR1B', 'score': 10.53}, {'connected_gene': 'RAB29', 'score': 10.05}, {'connected_gene': 'LOC103021296', 'score': 0.39}, {'connected_gene': 'LOC284581', 'score': 0.22}]
chr1 GH01I205943 205943433 205943582 0.81 [{'connected_gene': 'SLC26A9', 'score': 550.77}, {'connected_gene': 'LOC103021296', 'score': 0.44}, {'connected_gene': 'LOC103021295', 'score': 0.39}]
chr1 GH01I205951 205951273 205951442 0.69 [{'connected_gene': 'SLC26A9', 'score': 0.44}, {'connected_gene': 'LOC103021295', 'score': 0.44}, {'connected_gene': 'LOC103021296', 'score': 0.37}]
chr1 GH01I205950 205950001 205951253 0.69 [{'connected_gene': 'SLC26A9', 'score': 0.44}, {'connected_gene': 'LOC103021295', 'score': 0.44}, {'connected_gene': 'LOC103021296', 'score': 0.37}]
chr1 GH01I206134 206134080 206134460 0.31 [{'connected_gene': 'LOC105372869', 'score': 550.77}, {'connected_gene': 'CTSE', 'score': 10.21}, {'connected_gene': 'SLC26A9', 'score': 10.2}, {'connected_gene': 'LOC105372873', 'score': 0.39}]
chr1 GH01I205932 205932527 205935403 1.15 [{'connected_gene': 'LOC103021296', 'score': 550.77}, {'connected_gene': 'PM20D1', 'score': 10.65}, {'connected_gene': 'ENSG00000226780', 'score': 10.4}, {'connected_gene': 'AVPR1B', 'score': 10.4}, {'connected_gene': 'RAB29', 'score': 9.97}, {'connected_gene': 'RNU6-418P', 'score': 8.9}, {'connected_gene': 'ELK4', 'score': 5.39}, {'connected_gene': 'SLC26A9', 'score': 0.44}, {'connected_gene': 'LOC284581', 'score': 0.19}]
chr1 GH01I205923 205923745 205924569 0.43 [{'connected_gene': 'ENSG00000226780', 'score': 10.24}, {'connected_gene': 'AVPR1B', 'score': 10.24}, {'connected_gene': 'PM20D1', 'score': 10.02}, {'connected_gene': 'RAB29', 'score': 10.0}, {'connected_gene': 'CTSE', 'score': 9.92}, {'connected_gene': 'MFSD4A', 'score': 9.13}, {'connected_gene': 'LOC103021296', 'score': 0.39}, {'connected_gene': 'SLC26A9', 'score': 0.37}, {'connected_gene': 'LOC284581', 'score': 0.21}]
chr1 GH01I205796 205796621 205799418 0.68 [{'connected_gene': 'GC01M205795', 'score': 550.77}, {'connected_gene': 'PM20D1', 'score': 59.13}, {'connected_gene': 'RAB29', 'score': 11.86}, {'connected_gene': 'SLC26A9', 'score': 10.96}, {'connected_gene': 'NUCKS1', 'score': 10.52}, {'connected_gene': 'MFSD4A', 'score': 9.33}, {'connected_gene': 'DSTYK', 'score': 5.64}, {'connected_gene': 'GC01P205813', 'score': 0.37}, {'connected_gene': 'SLC41A1', 'score': 0.37}]

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