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
ENST00000429989 [[82213921, 82214127], [82248972, 82249070], [82264483, 82264534], [82266983, 82267130], [82269056, 82269227], [82271899, 82272025], [82273774, 82273819], [82275959, 82276079], [82277660, 82292879]] [[82248989, 82249070], [82264483, 82264534], [82266983, 82267130], [82269056, 82269227], [82271899, 82272025], [82273774, 82273819], [82275959, 82276079], [82277660, 82277732]]
ENST00000481124 [[82214020, 82214127], [82248972, 82249070], [82271899, 82272025], [82273774, 82273819], [82275959, 82276079], [82277660, 82277972]] [[82248989, 82249070], [82271899, 82272025], [82273774, 82273819], [82275959, 82276079], [82277660, 82277732]]
ENST00000372157 [[82214077, 82214127], [82248972, 82249070], [82264483, 82264534], [82266954, 82267130], [82269056, 82269227], [82271899, 82272025], [82273774, 82273819], [82275959, 82276079], [82277660, 82277678]] [[82264521, 82264534], [82266954, 82267130], [82269056, 82269227], [82271899, 82272025], [82273774, 82273819], [82275959, 82276079], [82277660, 82277678]]
ENST00000469149 [[82214084, 82214127], [82248972, 82249070], [82264483, 82264534], [82266983, 82267130], [82269056, 82269676]] None
ENST00000372164 [[82214085, 82214127], [82248972, 82249070], [82266983, 82267130], [82269056, 82269227], [82271899, 82272025], [82273774, 82273819], [82275959, 82276079], [82277660, 82282387]] [[82248989, 82249070], [82266983, 82267130], [82269056, 82269227], [82271899, 82272025], [82273774, 82273819], [82275959, 82276079], [82277660, 82277732]]
ENST00000372158 [[82214108, 82214127], [82222843, 82222883], [82228302, 82228443], [82248972, 82249070], [82264483, 82264534], [82266983, 82267130], [82269056, 82269227], [82271899, 82272025], [82273774, 82273819], [82275959, 82276079], [82277660, 82277797]] [[82248989, 82249070], [82264483, 82264534], [82266983, 82267130], [82269056, 82269227], [82271899, 82272025], [82273774, 82273819], [82275959, 82276079], [82277660, 82277732]]
ENST00000341863 [[82214110, 82214127], [82248972, 82249070], [82264483, 82264534], [82266983, 82267130], [82271899, 82272025], [82273774, 82273819], [82275959, 82276079], [82277660, 82278093]] [[82248989, 82249070], [82264483, 82264534], [82266983, 82267130], [82271899, 82272025], [82273774, 82273819], [82275959, 82276079], [82277660, 82277732]]
ENST00000372156 [[82219057, 82219263], [82222843, 82222883], [82226196, 82226294], [82228302, 82228443], [82248972, 82249070], [82264483, 82264534], [82266983, 82267130], [82269056, 82269227], [82271899, 82272025], [82273774, 82273819], [82275959, 82276079], [82277660, 82277797]] [[82248989, 82249070], [82264483, 82264534], [82266983, 82267130], [82269056, 82269227], [82271899, 82272025], [82273774, 82273819], [82275959, 82276079], [82277660, 82277732]]
ENST00000265450 [[82275222, 82276079], [82277660, 82279391]] None
NM_001128309 [[82214037, 82214127], [82248972, 82249070], [82271899, 82272025], [82273774, 82273819], [82275959, 82276079], [82277660, 82282391]] [[82248989, 82249070], [82271899, 82272025], [82273774, 82273819], [82275959, 82276079], [82277660, 82277732]]
NM_030927 [[82214037, 82214127], [82248972, 82249070], [82264483, 82264534], [82266983, 82267130], [82269056, 82269227], [82271899, 82272025], [82273774, 82273819], [82275959, 82276079], [82277660, 82282391]] [[82248989, 82249070], [82264483, 82264534], [82266983, 82267130], [82269056, 82269227], [82271899, 82272025], [82273774, 82273819], [82275959, 82276079], [82277660, 82277732]]
Promoter
Chrom Start End Description
chr10 82213630 82213679 CAGE_peak_7_at_TSPAN14_5end
chr10 82213904 82213915 CAGE_peak_9_at_TSPAN14_5end
chr10 82214010 82214021 CAGE_peak_4_at_TSPAN14_5end
chr10 82214031 82214044 CAGE_peak_2_at_TSPAN14_5end
chr10 82214045 82214050 CAGE_peak_6_at_TSPAN14_5end
chr10 82214052 82214087 CAGE_peak_1_at_TSPAN14_5end
chr10 82219007 82219018 CAGE_peak_19_at_TSPAN14_5end
chr10 82219029 82219047 CAGE_peak_8_at_TSPAN14_5end
chr10 82219068 82219079 CAGE_peak_23_at_TSPAN14_5end
chr10 82278440 82278495 CAGE_peak_3_at_TSPAN14_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I080399 80399737 80401128 0.31 [{'connected_gene': 'DYDC2', 'score': 23.53}, {'connected_gene': 'DYDC1', 'score': 10.57}, {'connected_gene': 'TSPAN14', 'score': 10.38}, {'connected_gene': 'ANXA11', 'score': 9.23}, {'connected_gene': 'LINC00857', 'score': 9.23}, {'connected_gene': 'LOC101929574', 'score': 5.51}, {'connected_gene': 'FAM213A', 'score': 0.44}]
chr10 GH10I080447 80447572 80448965 0.46 [{'connected_gene': 'FAM213A', 'score': 12.12}, {'connected_gene': 'TSPAN14', 'score': 8.47}, {'connected_gene': 'MBL1P', 'score': 5.32}, {'connected_gene': 'PIR57963', 'score': 0.39}]
chr10 GH10I080442 80442302 80445200 1.32 [{'connected_gene': 'FAM213A', 'score': 16.3}, {'connected_gene': 'TSPAN14', 'score': 8.49}, {'connected_gene': 'ANXA11', 'score': 6.51}, {'connected_gene': 'PIR57963', 'score': 0.44}]
chr10 GH10I080431 80431248 80432318 0.38 [{'connected_gene': 'FAM213A', 'score': 29.68}, {'connected_gene': 'TSPAN14', 'score': 12.66}, {'connected_gene': 'DYDC1', 'score': 10.14}, {'connected_gene': 'DYDC2', 'score': 10.11}, {'connected_gene': 'PLAC9', 'score': 6.73}, {'connected_gene': 'ANXA11', 'score': 6.38}, {'connected_gene': 'PIR57963', 'score': 0.77}]
chr10 GH10I080428 80428860 80430821 0.93 [{'connected_gene': 'TSPAN14', 'score': 18.26}, {'connected_gene': 'FAM213A', 'score': 18.07}, {'connected_gene': 'DYDC1', 'score': 10.36}, {'connected_gene': 'DYDC2', 'score': 10.34}, {'connected_gene': 'ENSG00000235858', 'score': 7.08}, {'connected_gene': 'ANXA11', 'score': 6.38}, {'connected_gene': 'LOC101929574', 'score': 4.97}, {'connected_gene': 'PIR57963', 'score': 0.44}]
chr10 GH10I080492 80492802 80507841 1.81 [{'connected_gene': 'TSPAN14', 'score': 22.96}, {'connected_gene': 'FAM213A', 'score': 11.39}, {'connected_gene': 'DYDC1', 'score': 10.0}, {'connected_gene': 'DYDC2', 'score': 10.0}, {'connected_gene': 'LOC101929574', 'score': 6.88}, {'connected_gene': 'ANXA11', 'score': 6.11}, {'connected_gene': 'PIR41876', 'score': 0.77}]
chr10 GH10I080483 80483122 80492600 1.64 [{'connected_gene': 'TSPAN14', 'score': 21.98}, {'connected_gene': 'FAM213A', 'score': 11.41}, {'connected_gene': 'DYDC1', 'score': 9.49}, {'connected_gene': 'DYDC2', 'score': 9.49}, {'connected_gene': 'LOC101929574', 'score': 7.37}, {'connected_gene': 'ANXA11', 'score': 6.14}, {'connected_gene': 'PIR41876', 'score': 0.37}]
chr10 GH10I080508 80508396 80512196 0.82 [{'connected_gene': 'TSPAN14', 'score': 21.57}, {'connected_gene': 'FAM213A', 'score': 11.02}, {'connected_gene': 'DYDC1', 'score': 9.9}, {'connected_gene': 'DYDC2', 'score': 9.9}, {'connected_gene': 'PIR41876', 'score': 0.44}, {'connected_gene': 'PIR63069', 'score': 0.34}]
chr10 GH10I080453 80453020 80475714 2.7 [{'connected_gene': 'TSPAN14', 'score': 561.06}, {'connected_gene': 'FAM213A', 'score': 27.16}, {'connected_gene': 'LOC101929574', 'score': 9.63}, {'connected_gene': 'DYDC1', 'score': 9.6}, {'connected_gene': 'DYDC2', 'score': 9.58}, {'connected_gene': 'ANXA11', 'score': 7.17}, {'connected_gene': 'PLAC9', 'score': 5.81}, {'connected_gene': 'MBL1P', 'score': 5.1}, {'connected_gene': 'SH2D4B', 'score': 2.37}, {'connected_gene': 'PIR41876', 'score': 0.26}]
chr10 GH10I080449 80449086 80449477 1.12 [{'connected_gene': 'TSPAN14', 'score': 8.63}, {'connected_gene': 'SH2D4B', 'score': 1.4}, {'connected_gene': 'PIR57963', 'score': 0.39}]
chr10 GH10I080451 80451895 80452342 0.62 [{'connected_gene': 'TSPAN14', 'score': 8.81}, {'connected_gene': 'SH2D4B', 'score': 4.0}, {'connected_gene': 'PIR57963', 'score': 0.37}]
chr10 GH10I080452 80452775 80452974 0.4 [{'connected_gene': 'TSPAN14', 'score': 558.81}, {'connected_gene': 'PIR57963', 'score': 0.37}]
chr10 GH10I080476 80476721 80478883 1.43 [{'connected_gene': 'EIF5AP4', 'score': 11.59}, {'connected_gene': 'TSPAN14', 'score': 5.91}, {'connected_gene': 'PIR41876', 'score': 0.31}]
chr10 GH10I080153 80153830 80169233 1.42 [{'connected_gene': 'LINC00857', 'score': 27.82}, {'connected_gene': 'ENSG00000272489', 'score': 20.81}, {'connected_gene': 'MBL1P', 'score': 20.43}, {'connected_gene': 'ANXA11', 'score': 20.16}, {'connected_gene': 'PLAC9', 'score': 14.98}, {'connected_gene': 'MAT1A', 'score': 5.52}, {'connected_gene': 'SFTPD', 'score': 4.64}, {'connected_gene': 'TSPAN14', 'score': 4.41}, {'connected_gene': 'GC10M080155', 'score': 0.44}, {'connected_gene': 'PIR39736', 'score': 0.44}]
chr10 GH10I080143 80143760 80146654 1.23 [{'connected_gene': 'LINC00857', 'score': 18.57}, {'connected_gene': 'ANXA11', 'score': 12.47}, {'connected_gene': 'PLAC9', 'score': 6.85}, {'connected_gene': 'TSPAN14', 'score': 4.31}, {'connected_gene': 'PIR39736', 'score': 0.44}]
chr10 GH10I080192 80192892 80209662 2.67 [{'connected_gene': 'ANXA11', 'score': 559.91}, {'connected_gene': 'MBL1P', 'score': 21.15}, {'connected_gene': 'ENSG00000235858', 'score': 12.0}, {'connected_gene': 'LINC00857', 'score': 10.32}, {'connected_gene': 'ENSG00000272489', 'score': 10.29}, {'connected_gene': 'MAT1A', 'score': 10.17}, {'connected_gene': 'DYDC2', 'score': 8.8}, {'connected_gene': 'PLAC9', 'score': 5.67}, {'connected_gene': 'SH2D4B', 'score': 5.07}, {'connected_gene': 'LOC642361', 'score': 4.35}, {'connected_gene': 'LOC101929574', 'score': 4.33}, {'connected_gene': 'TSPAN14', 'score': 1.23}, {'connected_gene': 'GC10M080155', 'score': 0.25}]
chr10 GH10I080378 80378365 80378600 0.94 [{'connected_gene': 'DYDC1', 'score': 11.33}, {'connected_gene': 'DYDC2', 'score': 11.28}, {'connected_gene': 'FAM213A', 'score': 11.25}, {'connected_gene': 'TSPAN14', 'score': 10.25}]
chr10 GH10I080528 80528002 80530799 1.23 [{'connected_gene': 'LOC102723703', 'score': 550.77}, {'connected_gene': 'PIR63069', 'score': 550.77}, {'connected_gene': 'SH2D4B', 'score': 7.6}, {'connected_gene': 'LOC101929574', 'score': 6.54}, {'connected_gene': 'ANXA11', 'score': 6.28}, {'connected_gene': 'TSPAN14', 'score': 1.58}, {'connected_gene': 'PIR41876', 'score': 0.34}]
chr10 GH10I080512 80512977 80522023 0.54 [{'connected_gene': 'LOC101929574', 'score': 11.96}, {'connected_gene': 'FAM213A', 'score': 10.49}, {'connected_gene': 'DYDC1', 'score': 9.32}, {'connected_gene': 'DYDC2', 'score': 9.32}, {'connected_gene': 'TSPAN14', 'score': 6.85}, {'connected_gene': 'ANXA11', 'score': 6.19}, {'connected_gene': 'MBL1P', 'score': 4.75}, {'connected_gene': 'ENSG00000234382', 'score': 4.69}, {'connected_gene': 'PIR41876', 'score': 0.39}, {'connected_gene': 'PIR63069', 'score': 0.39}]
chr10 GH10I080525 80525801 80527400 0.58 [{'connected_gene': 'LOC101929574', 'score': 12.56}, {'connected_gene': 'PIR63069', 'score': 0.77}, {'connected_gene': 'PIR41876', 'score': 0.34}, {'connected_gene': 'TSPAN14', 'score': 0.19}]
chr10 GH10I080522 80522695 80523343 0.74 [{'connected_gene': 'LOC101929574', 'score': 12.55}, {'connected_gene': 'PIR63069', 'score': 0.44}, {'connected_gene': 'PIR41876', 'score': 0.37}, {'connected_gene': 'TSPAN14', 'score': 0.2}]
chr10 GH10I080480 80480908 80482518 0.31 [{'connected_gene': 'LOC101929574', 'score': 7.3}, {'connected_gene': 'PIR41876', 'score': 0.34}, {'connected_gene': 'TSPAN14', 'score': 0.31}]
chr10 GH10I080535 80535430 80536826 1.55 [{'connected_gene': 'LOC101929574', 'score': 571.29}, {'connected_gene': 'SH2D4B', 'score': 550.77}, {'connected_gene': 'TSPAN14', 'score': 4.51}]
chr10 GH10I080435 80435670 80438034 0.69 [{'connected_gene': 'PIR57963', 'score': 550.77}, {'connected_gene': 'FAM213A', 'score': 24.97}, {'connected_gene': 'DYDC1', 'score': 10.12}, {'connected_gene': 'DYDC2', 'score': 10.11}, {'connected_gene': 'ANXA11', 'score': 6.37}, {'connected_gene': 'TSPAN14', 'score': 0.37}]
chr10 GH10I080523 80523706 80524800 0.89 [{'connected_gene': 'PIR63069', 'score': 0.44}, {'connected_gene': 'PIR41876', 'score': 0.37}, {'connected_gene': 'TSPAN14', 'score': 0.19}]
chr10 GH10I080441 80441905 80442094 0.31 [{'connected_gene': 'PIR57963', 'score': 0.44}, {'connected_gene': 'TSPAN14', 'score': 0.39}]

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