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
ENST00000517503 [[144099398, 144099664], [144102304, 144102408], [144102730, 144102850], [144102982, 144103827]] [[144099433, 144099664], [144102304, 144102408], [144102730, 144102839]]
ENST00000292494 [[144099898, 144100003], [144102299, 144102408], [144102730, 144102850], [144102982, 144103829]] [[144102356, 144102408], [144102730, 144102850], [144102982, 144103206]]
ENST00000429120 [[144099899, 144100003], [144102304, 144102408], [144102730, 144102850], [144102982, 144103827]] [[144102356, 144102408], [144102730, 144102850], [144102982, 144103206]]
ENST00000521699 [[144099933, 144100003], [144101678, 144101794], [144102304, 144102408], [144102730, 144102850], [144102982, 144103828]] [[144102356, 144102408], [144102730, 144102850], [144102982, 144103206]]
ENST00000520531 [[144099944, 144100003], [144102304, 144102408], [144102730, 144103057]] [[144102356, 144102408], [144102730, 144102900]]
ENST00000520466 [[144099944, 144100003], [144100249, 144100536], [144102299, 144102408], [144102730, 144102850], [144102982, 144103826]] [[144102356, 144102408], [144102730, 144102850], [144102982, 144103206]]
ENST00000521003 [[144099945, 144100003], [144101678, 144101794], [144102299, 144102408], [144102730, 144102850], [144102982, 144103319]] [[144102356, 144102408], [144102730, 144102850], [144102982, 144103206]]
ENST00000522528 [[144099945, 144100003], [144102304, 144102408], [144102765, 144102850], [144102982, 144103341]] [[144102356, 144102408], [144102765, 144102839]]
ENST00000522971 [[144099958, 144100003], [144102333, 144102408], [144102730, 144102850], [144102982, 144103599]] [[144102356, 144102408], [144102730, 144102850], [144102982, 144103206]]
ENST00000519611 [[144099960, 144100003], [144101678, 144101794], [144102304, 144102408], [144102730, 144102850], [144102965, 144103217]] [[144102356, 144102408], [144102730, 144102850], [144102965, 144102994]]
ENST00000521182 [[144099962, 144100003], [144102299, 144102408], [144102765, 144102850], [144102982, 144103826]] [[144102356, 144102408], [144102765, 144102839]]
ENST00000519546 [[144099968, 144100003], [144102299, 144102408], [144102730, 144102850], [144102965, 144103672]] [[144102356, 144102408], [144102730, 144102850], [144102965, 144102994]]
ENST00000523847 [[144099969, 144100003], [144102299, 144102408], [144102730, 144102850], [144105085, 144105249]] [[144102356, 144102408], [144102730, 144102850], [144105085, 144105114]]
ENST00000522024 [[144099973, 144100003], [144100249, 144100536], [144102304, 144102408], [144102730, 144102850], [144102982, 144103309]] [[144102356, 144102408], [144102730, 144102850], [144102982, 144103206]]
ENST00000519615 [[144103965, 144104459], [144105085, 144105247]] None
NM_001127213 [[144099901, 144100003], [144102304, 144102408], [144102730, 144102850], [144102982, 144103827]] [[144102356, 144102408], [144102730, 144102850], [144102982, 144103206]]
NM_002346 [[144099901, 144100003], [144102299, 144102408], [144102730, 144102850], [144102982, 144103827]] [[144102356, 144102408], [144102730, 144102850], [144102982, 144103206]]
Promoter
Chrom Start End Description
chr8 144099896 144099913 CAGE_peak_2_at_LY6E_5end
chr8 144099914 144099953 CAGE_peak_1_at_LY6E_5end
chr8 144102329 144102348 CAGE_peak_4_at_LY6E_5end
chr8 144102719 144102796 CAGE_peak_3_at_LY6E_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I142814 142814301 142817095 1.4 [{'connected_gene': 'LYNX1', 'score': 46.26}, {'connected_gene': 'ZNF623', 'score': 20.02}, {'connected_gene': 'JRK', 'score': 17.86}, {'connected_gene': 'EEF1D', 'score': 13.2}, {'connected_gene': 'LY6D', 'score': 12.36}, {'connected_gene': 'ZNF696', 'score': 11.4}, {'connected_gene': 'TIGD5', 'score': 10.96}, {'connected_gene': 'ENSG00000255050', 'score': 10.61}, {'connected_gene': 'GPIHBP1', 'score': 4.44}, {'connected_gene': 'LY6E', 'score': 2.43}, {'connected_gene': 'GLI4', 'score': 1.23}, {'connected_gene': 'ENSG00000283686', 'score': 0.44}, {'connected_gene': 'GML', 'score': 0.37}]
chr8 GH08I142087 142087921 142096626 0.64 [{'connected_gene': 'LY6E', 'score': 4.65}, {'connected_gene': 'ENSG00000261710', 'score': 0.77}, {'connected_gene': 'MIR4472-1', 'score': 0.18}]
chr8 GH08I143010 143010989 143011451 0.2 [{'connected_gene': 'C8orf31', 'score': 12.18}, {'connected_gene': 'ENSG00000253715', 'score': 10.4}, {'connected_gene': 'LY6D', 'score': 10.4}, {'connected_gene': 'NRBP2', 'score': 4.48}, {'connected_gene': 'LY6E', 'score': 0.44}, {'connected_gene': 'LY6E-DT', 'score': 0.44}, {'connected_gene': 'GC08P142999', 'score': 0.39}]
chr8 GH08I143275 143275808 143282340 2.12 [{'connected_gene': 'MINCR', 'score': 30.32}, {'connected_gene': 'ZNF623', 'score': 23.03}, {'connected_gene': 'GPAA1', 'score': 21.9}, {'connected_gene': 'PARP10', 'score': 21.24}, {'connected_gene': 'ENSG00000255050', 'score': 19.67}, {'connected_gene': 'ZNF707', 'score': 17.22}, {'connected_gene': 'ZFP41', 'score': 13.95}, {'connected_gene': 'EEF1D', 'score': 13.15}, {'connected_gene': 'ZC3H3', 'score': 12.57}, {'connected_gene': 'RHPN1', 'score': 11.44}, {'connected_gene': 'SHARPIN', 'score': 10.36}, {'connected_gene': 'FAM83H-AS1', 'score': 8.13}, {'connected_gene': 'TOP1MT', 'score': 5.92}, {'connected_gene': 'TIGD5', 'score': 3.54}, {'connected_gene': 'GLI4', 'score': 3.12}, {'connected_gene': 'LY6E', 'score': 2.33}, {'connected_gene': 'PYCR3', 'score': 2.09}, {'connected_gene': 'NAPRT', 'score': 1.9}, {'connected_gene': 'TSTA3', 'score': 1.86}, {'connected_gene': 'ENSG00000264668', 'score': 0.29}]
chr8 GH08I143012 143012630 143014661 1.3 [{'connected_gene': 'LY6E-DT', 'score': 35.88}, {'connected_gene': 'LY6E', 'score': 8.31}, {'connected_gene': 'LY6K', 'score': 1.52}, {'connected_gene': 'THEM6', 'score': 1.27}, {'connected_gene': 'GC08P142999', 'score': 0.39}]
chr8 GH08I143014 143014802 143020998 2.41 [{'connected_gene': 'LY6E-DT', 'score': 582.64}, {'connected_gene': 'LY6E', 'score': 557.02}, {'connected_gene': 'EEF1D', 'score': 13.2}, {'connected_gene': 'ZNF623', 'score': 11.89}, {'connected_gene': 'ZNF707', 'score': 10.88}, {'connected_gene': 'ENSG00000255050', 'score': 10.61}, {'connected_gene': 'GC08P142999', 'score': 0.37}]
chr8 GH08I143021 143021552 143028619 1.64 [{'connected_gene': 'LY6E-DT', 'score': 24.56}, {'connected_gene': 'MAFA', 'score': 1.29}, {'connected_gene': 'PIR51584', 'score': 0.77}, {'connected_gene': 'LY6E', 'score': 0.44}, {'connected_gene': 'GC08P143031', 'score': 0.44}]
chr8 GH08I142999 142999711 143000927 0.31 [{'connected_gene': 'GC08P142999', 'score': 550.77}, {'connected_gene': 'LY6E-DT', 'score': 14.64}, {'connected_gene': 'C8orf31', 'score': 11.65}, {'connected_gene': 'SLURP1', 'score': 10.57}, {'connected_gene': 'LY6E', 'score': 0.37}]