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
ENST00000265081 [[79950466, 79950783], [79952229, 79952350], [79960961, 79961182], [79965915, 79966128], [79968062, 79968179], [79968559, 79968677], [79970801, 79970947], [79974745, 79974912], [80021271, 80021384], [80024669, 80024784], [80037282, 80037367], [80040324, 80040434], [80057364, 80057497], [80063751, 80063939], [80064653, 80064822], [80071512, 80071577], [80074538, 80074655], [80083383, 80083491], [80088551, 80088663], [80109402, 80109560], [80149948, 80150135], [80160631, 80160761], [80168934, 80169106], [80171569, 80172279]] [[79950546, 79950783], [79952229, 79952350], [79960961, 79961182], [79965915, 79966128], [79968062, 79968179], [79968559, 79968677], [79970801, 79970947], [79974745, 79974912], [80021271, 80021384], [80024669, 80024784], [80037282, 80037367], [80040324, 80040434], [80057364, 80057497], [80063751, 80063939], [80064653, 80064822], [80071512, 80071577], [80074538, 80074655], [80083383, 80083491], [80088551, 80088663], [80109402, 80109560], [80149948, 80150135], [80160631, 80160761], [80168934, 80169106], [80171569, 80171681]]
ENST00000512531 [[79950970, 79951398], [79952229, 79952332]] None
ENST00000512258 [[80011023, 80011212], [80021271, 80021384], [80024669, 80024784], [80037282, 80037367], [80040324, 80040434], [80057364, 80057429]] None
NM_002439 [[79950466, 79950783], [79952229, 79952350], [79960961, 79961182], [79965915, 79966128], [79968062, 79968179], [79968559, 79968677], [79970801, 79970947], [79974745, 79974912], [80021271, 80021384], [80024669, 80024784], [80037282, 80037367], [80040324, 80040434], [80057364, 80057497], [80063751, 80063939], [80064653, 80064822], [80071512, 80071577], [80074538, 80074655], [80083383, 80083491], [80088551, 80088663], [80109402, 80109560], [80149948, 80150135], [80160631, 80160761], [80168934, 80169106], [80171569, 80172634]] [[79950546, 79950783], [79952229, 79952350], [79960961, 79961182], [79965915, 79966128], [79968062, 79968179], [79968559, 79968677], [79970801, 79970947], [79974745, 79974912], [80021271, 80021384], [80024669, 80024784], [80037282, 80037367], [80040324, 80040434], [80057364, 80057497], [80063751, 80063939], [80064653, 80064822], [80071512, 80071577], [80074538, 80074655], [80083383, 80083491], [80088551, 80088663], [80109402, 80109560], [80149948, 80150135], [80160631, 80160761], [80168934, 80169106], [80171569, 80171681]]
Promoter
Chrom Start End Description
chr5 79950463 79950487 CAGE_peak_1_at_MSH3_5end
chr5 79950496 79950522 CAGE_peak_2_at_MSH3_5end
chr5 79950526 79950538 CAGE_peak_3_at_MSH3_5end
chr5 79950963 79950981 CAGE_peak_4_at_MSH3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I081005 81005808 81008022 0.96 [{'connected_gene': 'RASGRF2', 'score': 13.55}, {'connected_gene': 'RASGRF2-AS1', 'score': 11.61}, {'connected_gene': 'MSH3', 'score': 5.59}, {'connected_gene': 'ENSG00000251001', 'score': 0.44}, {'connected_gene': 'ENSG00000249772', 'score': 0.14}]
chr5 GH05I080351 80351601 80352000 0.61 [{'connected_gene': 'CRSP8P', 'score': 550.77}, {'connected_gene': 'MSH3', 'score': 4.9}, {'connected_gene': 'RBMX2P5', 'score': 0.37}]
chr5 GH05I080162 80162432 80162797 0.36 [{'connected_gene': 'SERINC5', 'score': 13.92}, {'connected_gene': 'ENSG00000251675', 'score': 11.74}, {'connected_gene': 'DHFR', 'score': 4.62}, {'connected_gene': 'MSH3', 'score': 1.77}, {'connected_gene': 'GC05P080147', 'score': 0.37}]
chr5 GH05I080860 80860436 80862170 0.2 [{'connected_gene': 'DHFR', 'score': 22.66}, {'connected_gene': 'MSH3', 'score': 14.62}, {'connected_gene': 'RPS26P27', 'score': 0.44}, {'connected_gene': 'RASGRF2', 'score': 0.15}]
chr5 GH05I080654 80652842 80656635 2.02 [{'connected_gene': 'DHFR', 'score': 618.66}, {'connected_gene': 'MSH3', 'score': 580.73}, {'connected_gene': 'GC05P080655', 'score': 550.77}, {'connected_gene': 'CKMT2-AS1', 'score': 12.75}, {'connected_gene': 'ZCCHC9', 'score': 10.63}]
chr5 GH05I080754 80754772 80758519 0.91 [{'connected_gene': 'DHFR', 'score': 45.45}, {'connected_gene': 'MSH3', 'score': 17.13}, {'connected_gene': 'ENSG00000248967', 'score': 0.44}, {'connected_gene': 'GC05P080808', 'score': 0.23}]
chr5 GH05I080672 80672262 80672431 0.65 [{'connected_gene': 'DHFR', 'score': 0.37}, {'connected_gene': 'MSH3', 'score': 0.37}, {'connected_gene': 'ENSG00000248967', 'score': 0.19}]
chr5 GH05I080759 80759875 80760253 0.45 [{'connected_gene': 'DHFR', 'score': 8.17}, {'connected_gene': 'ENSG00000248967', 'score': 0.39}, {'connected_gene': 'GC05P080808', 'score': 0.25}, {'connected_gene': 'MSH3', 'score': 0.14}]
chr5 GH05I080667 80667853 80669044 0.7 [{'connected_gene': 'DHFR', 'score': 62.28}, {'connected_gene': 'MSH3', 'score': 33.16}, {'connected_gene': 'ENSG00000248967', 'score': 0.18}]
chr5 GH05I080623 80623601 80624400 0.65 [{'connected_gene': 'LINC01337', 'score': 550.77}, {'connected_gene': 'MSH3', 'score': 37.93}, {'connected_gene': 'ENSG00000249655', 'score': 0.44}]
chr5 GH05I080105 80105965 80107126 0.79 [{'connected_gene': 'ENSG00000251675', 'score': 12.15}, {'connected_gene': 'SERINC5', 'score': 10.92}, {'connected_gene': 'MSH3', 'score': 4.46}, {'connected_gene': 'GC05P080097', 'score': 0.44}]
chr5 GH05I080730 80730685 80730855 0.22 [{'connected_gene': 'ENSG00000248967', 'score': 0.37}, {'connected_gene': 'DHFR', 'score': 0.18}, {'connected_gene': 'MSH3', 'score': 0.18}]
chr5 GH05I080801 80801182 80801343 0.22 [{'connected_gene': 'ENSG00000249772', 'score': 9.52}, {'connected_gene': 'DHFR', 'score': 4.16}, {'connected_gene': 'GC05P080808', 'score': 0.44}, {'connected_gene': 'ENSG00000248967', 'score': 0.23}, {'connected_gene': 'MSH3', 'score': 0.11}]