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
ENST00000361170 [[156495196, 156496391], [156497743, 156497852], [156498300, 156498402], [156498707, 156498874], [156499896, 156500109], [156500951, 156501039], [156502771, 156502898], [156503564, 156503667], [156503800, 156503933], [156504292, 156504525], [156504954, 156505039], [156506972, 156507113], [156508600, 156508825], [156509165, 156509329], [156509629, 156509782], [156510499, 156510708], [156513772, 156513842], [156513943, 156514015], [156514180, 156514264], [156517864, 156518035], [156518139, 156518279], [156518372, 156518540], [156520052, 156520143], [156521496, 156521660], [156521765, 156521887], [156524026, 156524184], [156526324, 156526485], [156530725, 156530813], [156531629, 156531793], [156532378, 156532457], [156532925, 156533104], [156533344, 156533458], [156533548, 156533616], [156534406, 156534483], [156535818, 156535896], [156536181, 156536338], [156539167, 156539255], [156542284, 156542332]] [[156496277, 156496391], [156497743, 156497852], [156498300, 156498402], [156498707, 156498874], [156499896, 156500109], [156500951, 156501039], [156502771, 156502898], [156503564, 156503667], [156503800, 156503933], [156504292, 156504525], [156504954, 156505039], [156506972, 156507113], [156508600, 156508825], [156509165, 156509329], [156509629, 156509782], [156510499, 156510708], [156513772, 156513842], [156513943, 156514015], [156514180, 156514264], [156517864, 156518035], [156518139, 156518279], [156518372, 156518540], [156520052, 156520143], [156521496, 156521660], [156521765, 156521887], [156524026, 156524184], [156526324, 156526485], [156530725, 156530813], [156531629, 156531793], [156532378, 156532457], [156532925, 156533104], [156533344, 156533458], [156533548, 156533616], [156534406, 156534483], [156535818, 156535896], [156536181, 156536338], [156539167, 156539255], [156542284, 156542321]]
ENST00000491900 [[156495196, 156495344], [156496014, 156496391], [156497743, 156497852], [156498300, 156498402], [156498707, 156498874], [156499896, 156500109], [156500951, 156501039], [156502771, 156502898], [156503564, 156503667], [156503800, 156503933], [156504292, 156504525], [156504954, 156505039], [156506972, 156507113], [156508600, 156508825], [156509165, 156509329], [156509629, 156509782], [156510499, 156510708], [156513772, 156513842], [156513943, 156514015], [156514180, 156514264], [156517864, 156518035], [156518139, 156518279], [156518372, 156518540], [156520052, 156520143], [156521496, 156521660], [156521765, 156521887], [156524026, 156524184], [156526324, 156526485], [156530725, 156530813], [156531629, 156531793], [156532378, 156532457], [156532925, 156533104], [156533344, 156533458], [156533548, 156533616], [156534406, 156534483], [156535818, 156535896], [156536181, 156536338], [156542284, 156542396]] [[156496277, 156496391], [156497743, 156497852], [156498300, 156498402], [156498707, 156498874], [156499896, 156500109], [156500951, 156501039], [156502771, 156502898], [156503564, 156503667], [156503800, 156503933], [156504292, 156504525], [156504954, 156505039], [156506972, 156507113], [156508600, 156508825], [156509165, 156509329], [156509629, 156509782], [156510499, 156510708], [156513772, 156513842], [156513943, 156514015], [156514180, 156514264], [156517864, 156518035], [156518139, 156518279], [156518372, 156518540], [156520052, 156520143], [156521496, 156521660], [156521765, 156521887], [156524026, 156524184], [156526324, 156526485], [156530725, 156530813], [156531629, 156531793], [156532378, 156532457], [156532925, 156533104], [156533344, 156533458], [156533548, 156533616], [156534406, 156534483], [156535818, 156535896], [156536181, 156536334]]
ENST00000476565 [[156506622, 156507113], [156508600, 156508653]] None
ENST00000498755 [[156506967, 156507113], [156508600, 156509257]] None
NM_178229 [[156495196, 156496391], [156497743, 156497852], [156498300, 156498402], [156498707, 156498874], [156499896, 156500109], [156500951, 156501039], [156502771, 156502898], [156503564, 156503667], [156503800, 156503933], [156504292, 156504525], [156504954, 156505039], [156506972, 156507113], [156508600, 156508825], [156509165, 156509329], [156509629, 156509782], [156510499, 156510708], [156513772, 156513842], [156513943, 156514015], [156514180, 156514264], [156517864, 156518035], [156518139, 156518279], [156518372, 156518540], [156520052, 156520143], [156521496, 156521660], [156521765, 156521887], [156524026, 156524184], [156526324, 156526485], [156530725, 156530813], [156531629, 156531793], [156532378, 156532457], [156532925, 156533104], [156533344, 156533458], [156533548, 156533616], [156534406, 156534483], [156535818, 156535896], [156536181, 156536338], [156539167, 156539255], [156542284, 156542396]] [[156496277, 156496391], [156497743, 156497852], [156498300, 156498402], [156498707, 156498874], [156499896, 156500109], [156500951, 156501039], [156502771, 156502898], [156503564, 156503667], [156503800, 156503933], [156504292, 156504525], [156504954, 156505039], [156506972, 156507113], [156508600, 156508825], [156509165, 156509329], [156509629, 156509782], [156510499, 156510708], [156513772, 156513842], [156513943, 156514015], [156514180, 156514264], [156517864, 156518035], [156518139, 156518279], [156518372, 156518540], [156520052, 156520143], [156521496, 156521660], [156521765, 156521887], [156524026, 156524184], [156526324, 156526485], [156530725, 156530813], [156531629, 156531793], [156532378, 156532457], [156532925, 156533104], [156533344, 156533458], [156533548, 156533616], [156534406, 156534483], [156535818, 156535896], [156536181, 156536338], [156539167, 156539255], [156542284, 156542321]]
Promoter
Chrom Start End Description
chr1 156521811 156521820 CAGE_peak_5_at_IQGAP3_5end
chr1 156521838 156521843 CAGE_peak_6_at_IQGAP3_5end
chr1 156521868 156521874 CAGE_peak_7_at_IQGAP3_5end
chr1 156521881 156521893 CAGE_peak_4_at_IQGAP3_5end
chr1 156542328 156542364 CAGE_peak_1_at_IQGAP3_5end
chr1 156542366 156542377 CAGE_peak_2_at_IQGAP3_5end
chr1 156542388 156542400 CAGE_peak_3_at_IQGAP3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I156539 156539601 156541400 0.31 [{'connected_gene': 'GPATCH4', 'score': 4.64}, {'connected_gene': 'GC01P156524', 'score': 0.37}, {'connected_gene': 'IQGAP3', 'score': 0.29}]
chr1 GH01I156419 156419800 156424054 1.86 [{'connected_gene': 'MIR9-1', 'score': 550.77}, {'connected_gene': 'C1orf61', 'score': 550.39}, {'connected_gene': 'KHDC4', 'score': 34.75}, {'connected_gene': 'GON4L', 'score': 29.04}, {'connected_gene': 'RRNAD1', 'score': 27.38}, {'connected_gene': 'ENSG00000271267', 'score': 22.14}, {'connected_gene': 'MSTO1', 'score': 20.94}, {'connected_gene': 'MSTO2P', 'score': 20.27}, {'connected_gene': 'CCT3', 'score': 19.98}, {'connected_gene': 'PRCC', 'score': 19.35}, {'connected_gene': 'ISG20L2', 'score': 14.35}, {'connected_gene': 'ASH1L-AS1', 'score': 11.33}, {'connected_gene': 'LOC246784', 'score': 11.14}, {'connected_gene': 'YY1AP1', 'score': 10.86}, {'connected_gene': 'ENSG00000246203', 'score': 10.85}, {'connected_gene': 'ETV3', 'score': 9.75}, {'connected_gene': 'IQGAP3', 'score': 5.0}, {'connected_gene': 'PAQR6', 'score': 4.63}, {'connected_gene': 'GC01M156428', 'score': 0.44}]
chr1 GH01I156579 156579674 156579733 0.84 [{'connected_gene': 'TTC24', 'score': 550.77}, {'connected_gene': 'IQGAP3', 'score': 0.44}]
chr1 GH01I156559 156559789 156560038 0.46 [{'connected_gene': 'NAXE', 'score': 17.73}, {'connected_gene': 'HAPLN2', 'score': 10.84}, {'connected_gene': 'C1orf61', 'score': 10.42}, {'connected_gene': 'MIR9-1', 'score': 10.24}, {'connected_gene': 'RRNAD1', 'score': 9.76}, {'connected_gene': 'ISG20L2', 'score': 9.76}, {'connected_gene': 'IQGAP3', 'score': 0.39}, {'connected_gene': 'GC01P156524', 'score': 0.28}]
chr1 GH01I156551 156551085 156554419 0.95 [{'connected_gene': 'NAXE', 'score': 19.02}, {'connected_gene': 'MEF2D', 'score': 13.21}, {'connected_gene': 'HAPLN2', 'score': 11.21}, {'connected_gene': 'BCAN', 'score': 10.7}, {'connected_gene': 'CCT3', 'score': 10.5}, {'connected_gene': 'C1orf61', 'score': 10.4}, {'connected_gene': 'MIR9-1', 'score': 10.39}, {'connected_gene': 'TSACC', 'score': 10.36}, {'connected_gene': 'SMG5', 'score': 4.59}, {'connected_gene': 'IQGAP3', 'score': 0.37}, {'connected_gene': 'GC01P156524', 'score': 0.31}]
chr1 GH01I156569 156569889 156573198 2.25 [{'connected_gene': 'IQGAP3', 'score': 550.77}, {'connected_gene': 'NAXE', 'score': 19.57}, {'connected_gene': 'GON4L', 'score': 18.91}, {'connected_gene': 'KHDC4', 'score': 13.17}, {'connected_gene': 'RRNAD1', 'score': 12.91}, {'connected_gene': 'YY1AP1', 'score': 12.57}, {'connected_gene': 'MEF2D', 'score': 11.8}, {'connected_gene': 'PRCC', 'score': 10.91}, {'connected_gene': 'BCAN', 'score': 10.74}, {'connected_gene': 'CCT3', 'score': 10.58}, {'connected_gene': 'TSACC', 'score': 10.57}, {'connected_gene': 'LOC246784', 'score': 10.53}, {'connected_gene': 'GPATCH4', 'score': 6.84}, {'connected_gene': 'TTC24', 'score': 6.66}, {'connected_gene': 'GC01P156524', 'score': 0.25}]
chr1 GH01I156527 156527270 156528735 0.38 [{'connected_gene': 'IQGAP3', 'score': 11.24}, {'connected_gene': 'NAXE', 'score': 10.47}, {'connected_gene': 'GC01P156524', 'score': 0.77}]
chr1 GH01I156523 156523752 156526185 1.45 [{'connected_gene': 'GC01P156524', 'score': 550.77}, {'connected_gene': 'NAXE', 'score': 16.95}, {'connected_gene': 'IQGAP3', 'score': 11.23}, {'connected_gene': 'C1orf61', 'score': 10.12}, {'connected_gene': 'MIR9-1', 'score': 10.11}, {'connected_gene': 'GPATCH4', 'score': 4.95}, {'connected_gene': 'ENSG00000260460', 'score': 4.72}, {'connected_gene': 'MEF2D', 'score': 3.89}, {'connected_gene': 'RRNAD1', 'score': 1.29}]
chr1 GH01I156526 156526189 156526398 0.58 [{'connected_gene': 'GC01P156524', 'score': 550.77}, {'connected_gene': 'IQGAP3', 'score': 11.23}, {'connected_gene': 'NAXE', 'score': 10.47}]