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
ENST00000272298 [[47387220, 47387943], [47388861, 47388997], [47389424, 47389531], [47389657, 47389801], [47397872, 47397903], [47403579, 47403740]] [[47387914, 47387943], [47388861, 47388997], [47389424, 47389531], [47389657, 47389801], [47397872, 47397903], [47403579, 47403582]]
ENST00000460218 [[47387302, 47387943], [47388861, 47388997], [47389424, 47389531], [47389657, 47389801], [47397872, 47401346]] None
ENST00000432899 [[47387310, 47387943], [47388861, 47388997], [47389657, 47389801], [47397872, 47397903], [47403579, 47403639]] [[47388977, 47388997], [47389657, 47389801], [47397872, 47397903], [47403579, 47403582]]
ENST00000482532 [[47387740, 47387943], [47388861, 47388997], [47389424, 47389531], [47389657, 47391102]] None
ENST00000456319 [[47387775, 47387943], [47388861, 47388997], [47389424, 47389531], [47389657, 47389801], [47397872, 47397903], [47399552, 47399598], [47403579, 47403650]] [[47387914, 47387943], [47388861, 47388997], [47389424, 47389531], [47389657, 47389801], [47397872, 47397903], [47399552, 47399598], [47403579, 47403650]]
ENST00000409563 [[47387877, 47387943], [47388861, 47388997], [47389424, 47389531], [47389657, 47389801], [47394614, 47394829], [47397872, 47397903], [47403579, 47403650]] [[47387914, 47387943], [47388861, 47388997], [47389424, 47389531], [47389657, 47389801], [47394614, 47394789]]
ENST00000484408 [[47388861, 47388997], [47389424, 47389531], [47389657, 47389801], [47397872, 47397903], [47399552, 47399598], [47403374, 47403592]] None
ENST00000489742 [[47389424, 47389531], [47389657, 47389801], [47397872, 47397903], [47399552, 47399598], [47403415, 47403609]] None
NM_001305626 [[47387220, 47387943], [47388861, 47388997], [47389424, 47389531], [47389657, 47389801], [47397872, 47401346]] [[47387914, 47387943], [47388861, 47388997], [47389424, 47389531], [47389657, 47389727]]
NM_001305624 [[47387220, 47387943], [47388861, 47388997], [47389424, 47389531], [47389657, 47389801], [47397872, 47397903], [47399552, 47399598], [47403579, 47403762]] [[47387914, 47387943], [47388861, 47388997], [47389424, 47389531], [47389657, 47389801], [47397872, 47397903], [47399552, 47399598], [47403579, 47403680]]
NM_001743 [[47387220, 47387943], [47388861, 47388997], [47389424, 47389531], [47389657, 47389801], [47397872, 47397903], [47403579, 47403762]] [[47387914, 47387943], [47388861, 47388997], [47389424, 47389531], [47389657, 47389801], [47397872, 47397903], [47403579, 47403582]]
NM_001305625 [[47387220, 47387943], [47388861, 47388997], [47389424, 47389531], [47389657, 47389801], [47397872, 47397903], [47403987, 47404075]] [[47387914, 47387943], [47388861, 47388997], [47389424, 47389531], [47389657, 47389727]]
Promoter
Chrom Start End Description
chr19 47104553 47104633 CAGE_peak_3_at_CALM1_5end,CAGE_peak_3_at_CALM2_5end,CAGE_peak_3_at_CALM3_5end
chr19 47105386 47105419 CAGE_peak_10_at_CALM2_5end,CAGE_peak_12_at_CALM3_5end,CAGE_peak_14_at_CALM1_5end
chr19 47111456 47111473 CAGE_peak_13_at_CALM2_5end,CAGE_peak_15_at_CALM3_5end,CAGE_peak_17_at_CALM1_5end
chr19 47111483 47111500 CAGE_peak_10_at_CALM3_5end,CAGE_peak_12_at_CALM1_5end,CAGE_peak_8_at_CALM2_5end
chr19 47111516 47111533 CAGE_peak_11_at_CALM2_5end,CAGE_peak_13_at_CALM3_5end,CAGE_peak_15_at_CALM1_5end
chr19 47111536 47111548 CAGE_peak_14_at_CALM2_5end,CAGE_peak_16_at_CALM3_5end,CAGE_peak_18_at_CALM1_5end
chr2 47335892 47335907 CAGE_peak_29_at_CALM2_5end,CAGE_peak_35_at_CALM3_5end,CAGE_peak_51_at_CALM1_5end
chr2 47335914 47335927 CAGE_peak_25_at_CALM2_5end,CAGE_peak_31_at_CALM3_5end,CAGE_peak_45_at_CALM1_5end
chr2 47403642 47403660 CAGE_peak_2_at_CALM1_5end,CAGE_peak_2_at_CALM2_5end,CAGE_peak_2_at_CALM3_5end
chr14 90863344 90863356 CAGE_peak_11_at_CALM3_5end,CAGE_peak_13_at_CALM1_5end,CAGE_peak_9_at_CALM2_5end
chr14 90863364 90863382 CAGE_peak_1_at_CALM1_5end,CAGE_peak_1_at_CALM2_5end,CAGE_peak_1_at_CALM3_5end
chr14 90864504 90864518 CAGE_peak_18_at_CALM2_5end,CAGE_peak_23_at_CALM3_5end,CAGE_peak_29_at_CALM1_5end
chr14 90867595 90867626 CAGE_peak_12_at_CALM2_5end,CAGE_peak_14_at_CALM3_5end,CAGE_peak_16_at_CALM1_5end
chr14 90867659 90867699 CAGE_peak_4_at_CALM2_5end,CAGE_peak_5_at_CALM3_5end,CAGE_peak_7_at_CALM1_5end
chr14 90870200 90870249 CAGE_peak_5_at_CALM2_5end,CAGE_peak_6_at_CALM3_5end,CAGE_peak_8_at_CALM1_5end
chr14 90870714 90870738 CAGE_peak_6_at_CALM2_5end,CAGE_peak_7_at_CALM3_5end,CAGE_peak_9_at_CALM1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I046932 46932363 46934651 0.2 [{'connected_gene': 'MCFD2', 'score': 31.25}, {'connected_gene': 'CALM2', 'score': 9.62}, {'connected_gene': 'SOCS5', 'score': 9.52}, {'connected_gene': 'TTC7A', 'score': 5.56}, {'connected_gene': 'GC02M046933', 'score': 0.77}]
chr2 GH02I047055 47055339 47059785 1.38 [{'connected_gene': 'CALM2', 'score': 10.97}, {'connected_gene': 'TTC7A', 'score': 6.62}, {'connected_gene': 'MCFD2', 'score': 1.76}, {'connected_gene': 'ENSG00000225187', 'score': 0.39}, {'connected_gene': 'ENSG00000233845', 'score': 0.37}, {'connected_gene': 'STPG4', 'score': 0.15}]
chr2 GH02I046997 46997292 46998838 0.31 [{'connected_gene': 'CALM2', 'score': 10.61}, {'connected_gene': 'TTC7A', 'score': 4.99}, {'connected_gene': 'ENSG00000228925', 'score': 4.64}, {'connected_gene': 'GC02M046968', 'score': 0.34}, {'connected_gene': 'ENSG00000233845', 'score': 0.26}]
chr2 GH02I047169 47169640 47178063 2.56 [{'connected_gene': 'CALM2', 'score': 561.05}, {'connected_gene': 'MSH6', 'score': 58.45}, {'connected_gene': 'SOCS5', 'score': 31.89}, {'connected_gene': 'ENSG00000225187', 'score': 30.17}, {'connected_gene': 'ENSG00000228925', 'score': 29.79}, {'connected_gene': 'RPL18AP6', 'score': 28.55}, {'connected_gene': 'FBXO11', 'score': 11.42}, {'connected_gene': 'LOC101927043', 'score': 10.15}, {'connected_gene': 'MSH2', 'score': 9.85}, {'connected_gene': 'ATP6V1E2', 'score': 5.22}, {'connected_gene': 'STPG4', 'score': 4.62}]
chr2 GH02I047031 47031324 47037948 1.43 [{'connected_gene': 'CALM2', 'score': 10.52}, {'connected_gene': 'MSH6', 'score': 9.75}, {'connected_gene': 'STPG4', 'score': 4.72}, {'connected_gene': 'EPCAM', 'score': 4.25}, {'connected_gene': 'BCYRN1', 'score': 4.2}, {'connected_gene': 'ENSG00000233845', 'score': 0.44}, {'connected_gene': 'GC02M046968', 'score': 0.22}, {'connected_gene': 'TTC7A', 'score': 0.13}]
chr2 GH02I047061 47060045 47060160 0.2 [{'connected_gene': 'CALM2', 'score': 10.97}, {'connected_gene': 'ENSG00000225187', 'score': 0.44}, {'connected_gene': 'ENSG00000233845', 'score': 0.37}, {'connected_gene': 'STPG4', 'score': 0.15}, {'connected_gene': 'TTC7A', 'score': 0.11}]
chr2 GH02I047048 47048745 47053090 0.6 [{'connected_gene': 'CALM2', 'score': 5.58}, {'connected_gene': 'STPG4', 'score': 4.51}, {'connected_gene': 'ENSG00000233845', 'score': 0.39}, {'connected_gene': 'ENSG00000225187', 'score': 0.37}, {'connected_gene': 'TTC7A', 'score': 0.12}]
chr2 GH02I047118 47118144 47122066 0.76 [{'connected_gene': 'CALM2', 'score': 10.57}, {'connected_gene': 'STPG4', 'score': 0.28}, {'connected_gene': 'ENSG00000225187', 'score': 0.23}]
chr2 GH02I047143 47143902 47144051 0.38 [{'connected_gene': 'CALM2', 'score': 10.89}, {'connected_gene': 'STPG4', 'score': 0.39}, {'connected_gene': 'ENSG00000225187', 'score': 0.18}]
chr2 GH02I047090 47090601 47090800 0.4 [{'connected_gene': 'CALM2', 'score': 10.95}, {'connected_gene': 'ENSG00000225187', 'score': 0.34}, {'connected_gene': 'STPG4', 'score': 0.21}]
chr2 GH02I047208 47208449 47209507 0.92 [{'connected_gene': 'CALM2', 'score': 10.54}, {'connected_gene': 'LOC105374588', 'score': 0.44}, {'connected_gene': 'LOC101927043', 'score': 0.12}]
chr2 GH02I047178 47178422 47178571 0.51 [{'connected_gene': 'CALM2', 'score': 550.77}, {'connected_gene': 'LOC105374588', 'score': 0.28}]
chr2 GH02I047295 47295601 47297200 0.4 [{'connected_gene': 'CALM2', 'score': 11.26}, {'connected_gene': 'LOC101927043', 'score': 8.88}, {'connected_gene': 'PIR58315', 'score': 0.44}, {'connected_gene': 'PIR36995', 'score': 0.37}]
chr2 GH02I047283 47283197 47285239 0.31 [{'connected_gene': 'CALM2', 'score': 10.82}, {'connected_gene': 'PIR36995', 'score': 0.77}, {'connected_gene': 'PIR58315', 'score': 0.37}, {'connected_gene': 'LOC101927043', 'score': 0.21}]
chr2 GH02I047189 47189109 47195552 1.6 [{'connected_gene': 'FBXO11', 'score': 9.81}, {'connected_gene': 'CALM2', 'score': 0.37}, {'connected_gene': 'LOC105374588', 'score': 0.31}, {'connected_gene': 'LOC101927043', 'score': 0.1}]
chr2 GH02I046963 46963601 46972628 1.73 [{'connected_gene': 'TTC7A', 'score': 42.01}, {'connected_gene': 'MCFD2', 'score': 20.06}, {'connected_gene': 'CALM2', 'score': 10.38}, {'connected_gene': 'MSH6', 'score': 9.75}, {'connected_gene': 'ENSG00000228925', 'score': 4.72}, {'connected_gene': 'RHOQ', 'score': 3.77}, {'connected_gene': 'GC02M046968', 'score': 0.44}, {'connected_gene': 'PIR42793', 'score': 0.39}]
chr2 GH02I046977 46977445 46990415 1.74 [{'connected_gene': 'TTC7A', 'score': 36.09}, {'connected_gene': 'MCFD2', 'score': 21.16}, {'connected_gene': 'ENSG00000233845', 'score': 11.6}, {'connected_gene': 'CALM2', 'score': 10.9}, {'connected_gene': 'ENSG00000228925', 'score': 5.47}, {'connected_gene': 'RHOQ', 'score': 4.06}, {'connected_gene': 'GC02M046968', 'score': 0.44}]
chr2 GH02I046958 46958293 46961451 0.43 [{'connected_gene': 'TTC7A', 'score': 27.0}, {'connected_gene': 'CALM2', 'score': 10.06}, {'connected_gene': 'MCFD2', 'score': 5.4}, {'connected_gene': 'ENSG00000228925', 'score': 4.81}, {'connected_gene': 'PIR42793', 'score': 0.77}, {'connected_gene': 'GC02M046968', 'score': 0.39}]
chr2 GH02I047065 47065273 47080599 2.17 [{'connected_gene': 'TTC7A', 'score': 20.59}, {'connected_gene': 'CALM2', 'score': 15.04}, {'connected_gene': 'ENSG00000233845', 'score': 11.92}, {'connected_gene': 'STPG4', 'score': 10.56}, {'connected_gene': 'MSH6', 'score': 9.75}, {'connected_gene': 'MCFD2', 'score': 2.6}, {'connected_gene': 'ENSG00000225187', 'score': 0.44}]
chr2 GH02I047268 47268874 47275536 1.72 [{'connected_gene': 'MSH6', 'score': 96.47}, {'connected_gene': 'ENSG00000228925', 'score': 68.67}, {'connected_gene': 'FBXO11', 'score': 29.23}, {'connected_gene': 'ENSG00000233845', 'score': 27.16}, {'connected_gene': 'ENSG00000225187', 'score': 21.06}, {'connected_gene': 'SOCS5', 'score': 20.62}, {'connected_gene': 'MSH2', 'score': 20.2}, {'connected_gene': 'CALM2', 'score': 11.82}, {'connected_gene': 'RPL36AP15', 'score': 11.07}, {'connected_gene': 'RPL18AP6', 'score': 10.67}, {'connected_gene': 'STPG4', 'score': 6.72}, {'connected_gene': 'PIR36995', 'score': 0.44}, {'connected_gene': 'ENSG00000226087', 'score': 0.25}, {'connected_gene': 'LOC101927043', 'score': 0.19}]
chr2 GH02I046999 46999257 47001629 0.6 [{'connected_gene': 'MSH6', 'score': 21.06}, {'connected_gene': 'ENSG00000228925', 'score': 19.83}, {'connected_gene': 'ENSG00000225187', 'score': 12.2}, {'connected_gene': 'RPL18AP6', 'score': 11.47}, {'connected_gene': 'RPL36AP15', 'score': 10.84}, {'connected_gene': 'CALM2', 'score': 10.13}, {'connected_gene': 'TTC7A', 'score': 7.33}, {'connected_gene': 'MCFD2', 'score': 6.03}, {'connected_gene': 'GC02M046968', 'score': 0.31}, {'connected_gene': 'ENSG00000233845', 'score': 0.26}]
chr2 GH02I047179 47179046 47179886 0.78 [{'connected_gene': 'RPL18AP6', 'score': 4.64}, {'connected_gene': 'CALM2', 'score': 0.77}, {'connected_gene': 'LOC105374588', 'score': 0.28}]
chr2 GH02I047183 47183558 47184658 0.43 [{'connected_gene': 'RPL18AP6', 'score': 4.83}, {'connected_gene': 'CALM2', 'score': 0.44}, {'connected_gene': 'LOC105374588', 'score': 0.29}]
chr2 GH02I047160 47160160 47160401 1 [{'connected_gene': 'STPG4', 'score': 0.77}, {'connected_gene': 'CALM2', 'score': 0.37}]
chr2 GH02I047198 47198522 47200305 1.23 [{'connected_gene': 'LOC105374588', 'score': 0.37}, {'connected_gene': 'CALM2', 'score': 0.34}, {'connected_gene': 'LOC101927043', 'score': 0.11}]
chr2 GH02I047205 47205987 47206898 0.6 [{'connected_gene': 'LOC105374588', 'score': 0.39}, {'connected_gene': 'CALM2', 'score': 0.31}, {'connected_gene': 'LOC101927043', 'score': 0.12}]
chr2 GH02I047200 47200676 47201995 0.52 [{'connected_gene': 'LOC105374588', 'score': 0.37}, {'connected_gene': 'CALM2', 'score': 0.34}, {'connected_gene': 'LOC101927043', 'score': 0.11}]
chr2 GH02I047215 47215276 47216870 0.74 [{'connected_gene': 'LOC105374588', 'score': 0.77}, {'connected_gene': 'CALM2', 'score': 0.28}, {'connected_gene': 'LOC101927043', 'score': 0.13}]
chr2 GH02I047282 47282309 47283017 0.83 [{'connected_gene': 'PIR36995', 'score': 550.77}, {'connected_gene': 'CALM2', 'score': 10.82}, {'connected_gene': 'CRIPT', 'score': 6.12}, {'connected_gene': 'PIR58315', 'score': 0.37}, {'connected_gene': 'LOC101927043', 'score': 0.21}]
chr2 GH02I046844 46844987 46861399 1.72 [{'connected_gene': 'ENSG00000226548', 'score': 550.77}, {'connected_gene': 'CALM2', 'score': 10.33}, {'connected_gene': 'MCFD2', 'score': 9.26}, {'connected_gene': 'SOCS5', 'score': 2.22}, {'connected_gene': 'LINC01119', 'score': 0.28}]
chr2 GH02I047060 47060858 47064894 1.08 [{'connected_gene': 'ENSG00000233845', 'score': 12.72}, {'connected_gene': 'CALM2', 'score': 10.98}, {'connected_gene': 'TTC7A', 'score': 4.83}, {'connected_gene': 'PIGF', 'score': 4.51}, {'connected_gene': 'ENSG00000225187', 'score': 0.77}, {'connected_gene': 'STPG4', 'score': 0.16}]
chr2 GH02I047024 47024682 47029368 0.76 [{'connected_gene': 'ENSG00000225187', 'score': 11.75}, {'connected_gene': 'CALM2', 'score': 10.34}, {'connected_gene': 'ENSG00000233845', 'score': 0.39}, {'connected_gene': 'GC02M046968', 'score': 0.23}, {'connected_gene': 'TTC7A', 'score': 0.14}]
chr2 GH02I047022 47022785 47023622 0.2 [{'connected_gene': 'ENSG00000225187', 'score': 11.75}, {'connected_gene': 'CALM2', 'score': 10.46}, {'connected_gene': 'ENSG00000233845', 'score': 0.37}, {'connected_gene': 'GC02M046968', 'score': 0.25}, {'connected_gene': 'TTC7A', 'score': 0.14}]
chr2 GH02I047091 47091200 47091401 0.58 [{'connected_gene': 'ENSG00000225187', 'score': 12.22}, {'connected_gene': 'ENSG00000233845', 'score': 11.2}, {'connected_gene': 'CALM2', 'score': 10.95}, {'connected_gene': 'MSH2', 'score': 4.64}, {'connected_gene': 'STPG4', 'score': 0.21}]
chr2 GH02I047029 47029663 47030847 0.98 [{'connected_gene': 'ENSG00000225187', 'score': 11.77}, {'connected_gene': 'CALM2', 'score': 10.34}, {'connected_gene': 'STPG4', 'score': 4.43}, {'connected_gene': 'ENSG00000233845', 'score': 0.39}, {'connected_gene': 'GC02M046968', 'score': 0.22}, {'connected_gene': 'TTC7A', 'score': 0.14}]
chr2 GH02I047083 47083201 47087651 1.06 [{'connected_gene': 'ENSG00000233845', 'score': 11.53}, {'connected_gene': 'CALM2', 'score': 10.39}, {'connected_gene': 'ENSG00000225187', 'score': 0.37}, {'connected_gene': 'STPG4', 'score': 0.2}]
chr2 GH02I047093 47093519 47096709 0.38 [{'connected_gene': 'ENSG00000225187', 'score': 12.09}, {'connected_gene': 'ENSG00000233845', 'score': 11.2}, {'connected_gene': 'CALM2', 'score': 10.61}, {'connected_gene': 'STPG4', 'score': 0.21}]
chr2 GH02I047088 47088106 47090077 1.22 [{'connected_gene': 'ENSG00000233845', 'score': 11.51}, {'connected_gene': 'CALM2', 'score': 10.95}, {'connected_gene': 'ENSG00000225187', 'score': 0.34}, {'connected_gene': 'STPG4', 'score': 0.2}]
chr2 GH02I047223 47223032 47228594 1.22 [{'connected_gene': 'ENSG00000226087', 'score': 550.77}, {'connected_gene': 'CALM2', 'score': 11.17}, {'connected_gene': 'PIR36995', 'score': 0.23}, {'connected_gene': 'LOC101927043', 'score': 0.13}]
chr2 GH02I046973 46973056 46974132 0.2 [{'connected_gene': 'GC02M046968', 'score': 550.77}, {'connected_gene': 'TTC7A', 'score': 14.08}, {'connected_gene': 'CALM2', 'score': 10.02}, {'connected_gene': 'MCFD2', 'score': 6.14}, {'connected_gene': 'ENSG00000228925', 'score': 4.72}, {'connected_gene': 'PIR42793', 'score': 0.37}]
chr2 GH02I047164 47164397 47167546 0.56 [{'connected_gene': 'ENSG00000233845', 'score': 10.66}, {'connected_gene': 'STPG4', 'score': 0.39}, {'connected_gene': 'CALM2', 'score': 0.39}]
chr2 GH02I047162 47162405 47163460 0.46 [{'connected_gene': 'ENSG00000233845', 'score': 10.66}, {'connected_gene': 'STPG4', 'score': 0.44}, {'connected_gene': 'CALM2', 'score': 0.39}]
chr2 GH02I047297 47297804 47301511 1.54 [{'connected_gene': 'PIR58315', 'score': 550.77}, {'connected_gene': 'LOC101927043', 'score': 19.56}, {'connected_gene': 'ENSG00000228925', 'score': 13.94}, {'connected_gene': 'MSH6', 'score': 13.47}, {'connected_gene': 'SOCS5', 'score': 12.24}, {'connected_gene': 'CALM2', 'score': 10.79}, {'connected_gene': 'EPCAM', 'score': 10.79}, {'connected_gene': 'MIR559', 'score': 10.64}, {'connected_gene': 'KCNK12', 'score': 3.71}, {'connected_gene': 'PIR36995', 'score': 0.37}]

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