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
ENST00000482439 [[72233486, 72233591], [72234880, 72235011], [72265849, 72265948], [72266708, 72266783], [72274248, 72274387], [72278590, 72278801], [72287001, 72287104]] [[72274341, 72274387], [72278590, 72278801], [72287001, 72287104]]
ENST00000550746 [[72233497, 72233591], [72265849, 72265948], [72266708, 72266783], [72274248, 72274387], [72278590, 72278801], [72287001, 72287104], [72288104, 72288155], [72288465, 72288663], [72289726, 72289855], [72290456, 72290560], [72291626, 72291721], [72300801, 72300918], [72307605, 72307706], [72311477, 72311577], [72312230, 72312328], [72314510, 72314627], [72315147, 72315234], [72316762, 72320629]] [[72233561, 72233591], [72265849, 72265948], [72266708, 72266783], [72274248, 72274387], [72278590, 72278801], [72287001, 72287104], [72288104, 72288155], [72288465, 72288663], [72289726, 72289855], [72290456, 72290560], [72291626, 72291721], [72300801, 72300918], [72307605, 72307706], [72311477, 72311577], [72312230, 72312328], [72314510, 72314627], [72315147, 72315234], [72316762, 72316984]]
ENST00000498482 [[72233538, 72233591], [72248342, 72248382], [72248564, 72248633], [72265849, 72265948], [72266708, 72266783], [72274248, 72274387], [72278590, 72278681]] [[72233561, 72233591], [72248342, 72248382], [72248564, 72248633], [72265849, 72265860]]
ENST00000474468 [[72233538, 72233591], [72234880, 72235011], [72265849, 72265948], [72266708, 72266783], [72274248, 72274387], [72287001, 72287086]] None
ENST00000549402 [[72233538, 72233591], [72248564, 72248633], [72265849, 72265948], [72266708, 72266783], [72274248, 72274387], [72287001, 72287104], [72288104, 72288159]] None
ENST00000472611 [[72233538, 72233591], [72265849, 72265948], [72266708, 72266783], [72278590, 72278801], [72287001, 72287104], [72288465, 72288564]] [[72233561, 72233591], [72265849, 72265948], [72266708, 72266783], [72278590, 72278644]]
ENST00000491063 [[72233538, 72233591], [72248564, 72248633], [72265849, 72265948], [72266708, 72266783], [72274248, 72274387], [72278590, 72278801], [72287001, 72287104], [72288465, 72288663], [72289726, 72289855], [72290456, 72290560], [72291626, 72291669]] [[72274341, 72274387], [72278590, 72278801], [72287001, 72287104], [72288465, 72288663], [72289726, 72289855], [72290456, 72290560], [72291626, 72291669]]
ENST00000319106 [[72233538, 72233591], [72255184, 72255276], [72265849, 72265948], [72266708, 72266783], [72274248, 72274387], [72278590, 72278801], [72287001, 72287104], [72288465, 72288663], [72289726, 72289855], [72290456, 72290560], [72291626, 72291721], [72300801, 72300918], [72307605, 72307706], [72311477, 72311577], [72312230, 72312328], [72314510, 72314627], [72315147, 72315234], [72316762, 72317003]] [[72255222, 72255276], [72265849, 72265948], [72266708, 72266783], [72274248, 72274387], [72278590, 72278801], [72287001, 72287104], [72288465, 72288663], [72289726, 72289855], [72290456, 72290560], [72291626, 72291721], [72300801, 72300918], [72307605, 72307706], [72311477, 72311577], [72312230, 72312328], [72314510, 72314627], [72315147, 72315234], [72316762, 72316984]]
ENST00000462788 [[72233538, 72233591], [72265849, 72265948], [72266708, 72266783], [72274248, 72274387], [72287001, 72287104], [72288465, 72288663], [72289726, 72289855], [72290456, 72290560], [72291626, 72291721], [72300801, 72300918], [72307605, 72307706], [72311477, 72311577], [72312230, 72312328], [72314510, 72314627], [72315147, 72315234], [72316762, 72317142]] [[72233561, 72233591], [72265849, 72265948], [72266708, 72266783], [72274248, 72274387], [72287001, 72287033]]
ENST00000485960 [[72233538, 72233591], [72265849, 72265948], [72266708, 72266783], [72274248, 72274387], [72278590, 72278801], [72287001, 72287104], [72288465, 72288663], [72289726, 72289855], [72290456, 72290560], [72291626, 72291721], [72300801, 72300918], [72307605, 72307706], [72311477, 72311577], [72312230, 72312328], [72314510, 72314627], [72315147, 72315234], [72316762, 72317425]] [[72233561, 72233591], [72265849, 72265948], [72266708, 72266783], [72274248, 72274387], [72278590, 72278801], [72287001, 72287104], [72288465, 72288663], [72289726, 72289855], [72290456, 72290560], [72291626, 72291721], [72300801, 72300918], [72307605, 72307706], [72311477, 72311577], [72312230, 72312328], [72314510, 72314627], [72315147, 72315234], [72316762, 72316984]]
ENST00000468049 [[72233542, 72233591], [72265849, 72265948], [72266708, 72266783], [72287001, 72287104], [72288465, 72288502]] [[72233561, 72233591], [72265849, 72265948], [72266708, 72266783], [72287001, 72287016]]
ENST00000546932 [[72233557, 72233591], [72234880, 72235011], [72265849, 72265948], [72266708, 72266783], [72274248, 72274387], [72278639, 72278718]] None
ENST00000393309 [[72233557, 72233591], [72265849, 72265948], [72266708, 72266783], [72274248, 72274387], [72287001, 72287104], [72288465, 72288663], [72289726, 72289855], [72290456, 72290560], [72291626, 72291721], [72300801, 72300918], [72307605, 72307706], [72311477, 72311577], [72312230, 72312328], [72314510, 72314627], [72315147, 72315234], [72316762, 72317074]] [[72288495, 72288663], [72289726, 72289855], [72290456, 72290560], [72291626, 72291721], [72300801, 72300918], [72307605, 72307706], [72311477, 72311577], [72312230, 72312328], [72314510, 72314627], [72315147, 72315234], [72316762, 72316984]]
ENST00000460818 [[72262581, 72262701], [72265849, 72265948], [72266708, 72266783], [72274248, 72274387], [72278590, 72278761]] None
ENST00000483828 [[72290167, 72290560], [72291626, 72291721], [72300801, 72300918], [72307605, 72307706], [72311477, 72311555]] None
ENST00000548679 [[72290996, 72291066], [72291626, 72291721], [72300801, 72300918], [72301642, 72301769], [72307605, 72307706], [72311477, 72311577], [72312230, 72312277]] None
ENST00000479971 [[72291626, 72291721], [72300801, 72301542]] None
ENST00000546450 [[72307139, 72307706], [72311477, 72311577], [72312230, 72312328], [72314510, 72314627], [72315147, 72315234], [72316762, 72316995]] None
NR_027449 [[72233486, 72233591], [72265849, 72265948], [72266708, 72266783], [72274248, 72274387], [72287001, 72287104], [72288465, 72288663], [72289726, 72289855], [72290456, 72290560], [72291626, 72291721], [72300801, 72300918], [72307605, 72307706], [72311477, 72311577], [72312230, 72312328], [72314510, 72314627], [72315147, 72315234], [72316762, 72320629]] None
NM_001146213 [[72233486, 72233591], [72265849, 72265948], [72266708, 72266783], [72274248, 72274387], [72278590, 72278801], [72287001, 72287104], [72288465, 72288663], [72289726, 72289855], [72290456, 72290560], [72291626, 72291721], [72300801, 72300918], [72307605, 72307706], [72311477, 72311577], [72312230, 72312328], [72314510, 72314627], [72315147, 72315234], [72316762, 72320629]] [[72233561, 72233591], [72265849, 72265948], [72266708, 72266783], [72274248, 72274387], [72278590, 72278801], [72287001, 72287104], [72288465, 72288663], [72289726, 72289855], [72290456, 72290560], [72291626, 72291721], [72300801, 72300918], [72307605, 72307706], [72311477, 72311577], [72312230, 72312328], [72314510, 72314627], [72315147, 72315234], [72316762, 72316984]]
NM_022771 [[72233486, 72233591], [72265849, 72265948], [72266708, 72266783], [72274248, 72274387], [72278590, 72278801], [72287001, 72287104], [72288104, 72288155], [72288465, 72288663], [72289726, 72289855], [72290456, 72290560], [72291626, 72291721], [72300801, 72300918], [72307605, 72307706], [72311477, 72311577], [72312230, 72312328], [72314510, 72314627], [72315147, 72315234], [72316762, 72320629]] [[72233561, 72233591], [72265849, 72265948], [72266708, 72266783], [72274248, 72274387], [72278590, 72278801], [72287001, 72287104], [72288104, 72288155], [72288465, 72288663], [72289726, 72289855], [72290456, 72290560], [72291626, 72291721], [72300801, 72300918], [72307605, 72307706], [72311477, 72311577], [72312230, 72312328], [72314510, 72314627], [72315147, 72315234], [72316762, 72316984]]
NM_001146214 [[72233486, 72233591], [72255184, 72255276], [72265849, 72265948], [72266708, 72266783], [72274248, 72274387], [72278590, 72278801], [72287001, 72287104], [72288465, 72288663], [72289726, 72289855], [72290456, 72290560], [72291626, 72291721], [72300801, 72300918], [72307605, 72307706], [72311477, 72311577], [72312230, 72312328], [72314510, 72314627], [72315147, 72315234], [72316762, 72320629]] [[72255222, 72255276], [72265849, 72265948], [72266708, 72266783], [72274248, 72274387], [72278590, 72278801], [72287001, 72287104], [72288465, 72288663], [72289726, 72289855], [72290456, 72290560], [72291626, 72291721], [72300801, 72300918], [72307605, 72307706], [72311477, 72311577], [72312230, 72312328], [72314510, 72314627], [72315147, 72315234], [72316762, 72316984]]
Promoter
Chrom Start End Description
chr12 72233530 72233563 CAGE_peak_1_at_TBC1D15_5end
chr12 72290195 72290204 CAGE_peak_11_at_TBC1D15_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I071846 71846001 71846200 0.38 [{'connected_gene': 'MRS2P2', 'score': 0.77}, {'connected_gene': 'TBC1D15', 'score': 0.44}]
chr12 GH12I071422 71422585 71422636 0.22 [{'connected_gene': 'TBC1D15', 'score': 6.33}, {'connected_gene': 'LGR5', 'score': 0.37}, {'connected_gene': 'TSPAN8', 'score': 0.37}, {'connected_gene': 'LOC105369832', 'score': 0.14}]
chr12 GH12I071870 71870201 71871000 0.56 [{'connected_gene': 'TBC1D15', 'score': 21.57}, {'connected_gene': 'MRS2P2', 'score': 0.37}, {'connected_gene': 'TPH2', 'score': 0.2}]
chr12 GH12I071864 71864680 71866705 0.74 [{'connected_gene': 'TBC1D15', 'score': 24.87}, {'connected_gene': 'MRS2P2', 'score': 0.39}, {'connected_gene': 'TPH2', 'score': 0.19}]
chr12 GH12I071782 71782084 71782594 0.43 [{'connected_gene': 'TBC1D15', 'score': 12.73}, {'connected_gene': 'RAB21', 'score': 12.11}, {'connected_gene': 'TPH2', 'score': 11.3}, {'connected_gene': 'ENSG00000257410', 'score': 0.37}]
chr12 GH12I071780 71780158 71781250 0.56 [{'connected_gene': 'TBC1D15', 'score': 12.73}, {'connected_gene': 'RAB21', 'score': 12.11}, {'connected_gene': 'TPH2', 'score': 11.3}, {'connected_gene': 'ENSG00000257410', 'score': 0.37}]
chr12 GH12I071838 71838209 71841754 2.29 [{'connected_gene': 'TBC1D15', 'score': 562.69}, {'connected_gene': 'ZFC3H1', 'score': 16.42}, {'connected_gene': 'MRS2P2', 'score': 0.39}]
chr12 GH12I071787 71787721 71787870 0.54 [{'connected_gene': 'TBC1D15', 'score': 12.03}, {'connected_gene': 'TPH2', 'score': 10.38}, {'connected_gene': 'ENSG00000257410', 'score': 0.39}, {'connected_gene': 'RAB21', 'score': 0.29}]
chr12 GH12I072815 72815039 72816017 0.38 [{'connected_gene': 'TBC1D15', 'score': 4.53}, {'connected_gene': 'ENSG00000258235', 'score': 0.17}, {'connected_gene': 'LOC105369838', 'score': 0.15}]
chr12 GH12I071754 71754080 71756872 2.06 [{'connected_gene': 'RAB21', 'score': 550.77}, {'connected_gene': 'ZFC3H1', 'score': 31.45}, {'connected_gene': 'TBC1D15', 'score': 10.15}, {'connected_gene': 'ENSG00000257410', 'score': 0.26}]
chr12 GH12I071799 71799001 71799201 0.2 [{'connected_gene': 'ENSG00000257410', 'score': 550.77}, {'connected_gene': 'TBC1D15', 'score': 11.11}, {'connected_gene': 'TPH2', 'score': 10.0}, {'connected_gene': 'RAB21', 'score': 0.26}]

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