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
ENST00000267229 [[79894088, 79894845], [79896483, 79896597], [79908478, 79908565], [79911236, 79911437], [79915257, 79915362], [79916798, 79916966], [79918382, 79918457], [79918803, 79918929], [79928573, 79928696], [79929354, 79929519], [79932408, 79932568], [79933709, 79933821], [79939712, 79939853], [79940189, 79940330], [79940767, 79941007], [79942864, 79943125], [79945079, 79945297], [79945976, 79946065], [79951513, 79951650], [79952923, 79953042], [79979838, 79979923]] [[79894755, 79894845], [79896483, 79896597], [79908478, 79908565], [79911236, 79911437], [79915257, 79915362], [79916798, 79916966], [79918382, 79918457], [79918803, 79918929], [79928573, 79928696], [79929354, 79929519], [79932408, 79932568], [79933709, 79933821], [79939712, 79939853], [79940189, 79940330], [79940767, 79941007], [79942864, 79943125], [79945079, 79945297], [79945976, 79946065], [79951513, 79951650], [79952923, 79953042], [79979838, 79979909]]
ENST00000438737 [[79894088, 79894845], [79896483, 79896597], [79908478, 79908565], [79911236, 79911437], [79915257, 79915362], [79916798, 79916966], [79918382, 79918457], [79918803, 79918929], [79927287, 79927359], [79928573, 79928705], [79929354, 79929519], [79932408, 79932568], [79933709, 79933821], [79939712, 79939853], [79940189, 79940330], [79940767, 79941007], [79942864, 79943125], [79945079, 79945297], [79945976, 79946065], [79951513, 79951650], [79952923, 79953042], [79979838, 79980350]] [[79894755, 79894845], [79896483, 79896597], [79908478, 79908565], [79911236, 79911437], [79915257, 79915362], [79916798, 79916966], [79918382, 79918457], [79918803, 79918929], [79927287, 79927359], [79928573, 79928705], [79929354, 79929519], [79932408, 79932568], [79933709, 79933821], [79939712, 79939853], [79940189, 79940330], [79940767, 79941007], [79942864, 79943125], [79945079, 79945297], [79945976, 79946065], [79951513, 79951650], [79952923, 79953042], [79979838, 79979909]]
ENST00000438724 [[79894142, 79894845], [79896483, 79896597], [79908478, 79908565], [79911236, 79911437], [79915257, 79915362], [79916798, 79916966], [79918382, 79918457], [79918803, 79918929], [79928573, 79928705], [79929354, 79929519], [79932408, 79932568], [79933709, 79933821], [79939712, 79939853], [79940189, 79940330], [79940767, 79941007], [79942864, 79943125], [79945079, 79945297], [79945976, 79946065], [79951513, 79951650], [79952923, 79953042], [79979838, 79979965]] [[79894755, 79894845], [79896483, 79896597], [79908478, 79908565], [79911236, 79911437], [79915257, 79915362], [79916798, 79916966], [79918382, 79918457], [79918803, 79918929], [79928573, 79928705], [79929354, 79929519], [79932408, 79932568], [79933709, 79933821], [79939712, 79939853], [79940189, 79940330], [79940767, 79941007], [79942864, 79943125], [79945079, 79945297], [79945976, 79946065], [79951513, 79951650], [79952923, 79953042], [79979838, 79979909]]
ENST00000472143 [[79950351, 79951650], [79952923, 79953042], [79979838, 79980612]] None
ENST00000449987 [[79885961, 79889128], [79896483, 79896597], [79908478, 79908565], [79911236, 79911437], [79915257, 79915347]] [[79889104, 79889128], [79896483, 79896597], [79908478, 79908565], [79911236, 79911437], [79915257, 79915347]]
ENST00000461008 [[79939894, 79940330], [79940767, 79940845]] None
NM_001286631 [[79893002, 79894845], [79896483, 79896597], [79908478, 79908565], [79911236, 79911437], [79915257, 79915362], [79916798, 79916966], [79918382, 79918457], [79918803, 79918929], [79927287, 79927359], [79928573, 79928696], [79929354, 79929519], [79932408, 79932568], [79933709, 79933821], [79939712, 79939868], [79940189, 79940330], [79940767, 79941007], [79942864, 79943125], [79945079, 79945297], [79945976, 79946065], [79951513, 79951650], [79952923, 79953042], [79979838, 79980356]] [[79894755, 79894845], [79896483, 79896597], [79908478, 79908565], [79911236, 79911437], [79915257, 79915362], [79916798, 79916966], [79918382, 79918457], [79918803, 79918929], [79927287, 79927359], [79928573, 79928696], [79929354, 79929519], [79932408, 79932568], [79933709, 79933821], [79939712, 79939868], [79940189, 79940330], [79940767, 79941007], [79942864, 79943125], [79945079, 79945297], [79945976, 79946065], [79951513, 79951650], [79952923, 79953042], [79979838, 79979909]]
NM_001286632 [[79893002, 79894845], [79896483, 79896597], [79908478, 79908565], [79911236, 79911437], [79915257, 79915362], [79916798, 79916966], [79918382, 79918457], [79918803, 79918929], [79928573, 79928705], [79929354, 79929519], [79932408, 79932568], [79933709, 79933821], [79939712, 79939853], [79940189, 79940330], [79940767, 79941007], [79942864, 79943125], [79945079, 79945297], [79945976, 79946065], [79951513, 79951650], [79952923, 79953042], [79979838, 79980356]] [[79894755, 79894845], [79896483, 79896597], [79908478, 79908565], [79911236, 79911437], [79915257, 79915362], [79916798, 79916966], [79918382, 79918457], [79918803, 79918929], [79928573, 79928705], [79929354, 79929519], [79932408, 79932568], [79933709, 79933821], [79939712, 79939853], [79940189, 79940330], [79940767, 79941007], [79942864, 79943125], [79945079, 79945297], [79945976, 79946065], [79951513, 79951650], [79952923, 79953042], [79979838, 79979909]]
NM_022118 [[79893002, 79894845], [79896483, 79896597], [79908478, 79908565], [79911236, 79911437], [79915257, 79915362], [79916798, 79916966], [79918382, 79918457], [79918803, 79918929], [79928573, 79928696], [79929354, 79929519], [79932408, 79932568], [79933709, 79933821], [79939712, 79939853], [79940189, 79940330], [79940767, 79941007], [79942864, 79943125], [79945079, 79945297], [79945976, 79946065], [79951513, 79951650], [79952923, 79953042], [79979838, 79980356]] [[79894755, 79894845], [79896483, 79896597], [79908478, 79908565], [79911236, 79911437], [79915257, 79915362], [79916798, 79916966], [79918382, 79918457], [79918803, 79918929], [79928573, 79928696], [79929354, 79929519], [79932408, 79932568], [79933709, 79933821], [79939712, 79939853], [79940189, 79940330], [79940767, 79941007], [79942864, 79943125], [79945079, 79945297], [79945976, 79946065], [79951513, 79951650], [79952923, 79953042], [79979838, 79979909]]
Promoter
Chrom Start End Description
chr13 79979919 79979945 CAGE_peak_3_at_RBM26_5end
chr13 79979952 79979986 CAGE_peak_2_at_RBM26_5end
chr13 79980143 79980165 CAGE_peak_4_at_RBM26_5end
chr13 79980315 79980403 CAGE_peak_1_at_RBM26_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I078657 78657707 78660679 2.02 [{'connected_gene': 'RNF219', 'score': 550.77}, {'connected_gene': 'RBM26', 'score': 11.89}, {'connected_gene': 'ENSG00000271776', 'score': 11.79}, {'connected_gene': 'POU4F1', 'score': 7.96}, {'connected_gene': 'GC13P078744', 'score': 0.17}]
chr13 GH13I079496 79496898 79498311 0.46 [{'connected_gene': 'RBM26', 'score': 13.56}, {'connected_gene': 'RNF219', 'score': 10.12}, {'connected_gene': 'NDFIP2-AS1', 'score': 0.37}, {'connected_gene': 'NDFIP2', 'score': 0.37}, {'connected_gene': 'LINC01068', 'score': 0.2}]
chr13 GH13I079528 79528587 79529899 0.71 [{'connected_gene': 'RBM26', 'score': 8.41}, {'connected_gene': 'LINC01068', 'score': 0.28}, {'connected_gene': 'NDFIP2-AS1', 'score': 0.25}, {'connected_gene': 'NDFIP2', 'score': 0.25}]
chr13 GH13I079495 79495129 79496828 0.31 [{'connected_gene': 'RBM26', 'score': 8.1}, {'connected_gene': 'LINC01068', 'score': 4.89}, {'connected_gene': 'NDFIP2-AS1', 'score': 0.39}, {'connected_gene': 'NDFIP2', 'score': 0.37}]
chr13 GH13I079538 79538681 79540923 0.43 [{'connected_gene': 'RBM26', 'score': 20.12}, {'connected_gene': 'LINC01068', 'score': 19.64}, {'connected_gene': 'RBM26-AS1', 'score': 11.84}, {'connected_gene': 'NDFIP2-AS1', 'score': 11.51}, {'connected_gene': 'NDFIP2', 'score': 11.51}]
chr13 GH13I079679 79679201 79679535 0.91 [{'connected_gene': 'RBM26', 'score': 10.48}, {'connected_gene': 'GC13M079776', 'score': 0.15}, {'connected_gene': 'LINC01068', 'score': 0.14}]
chr13 GH13I079986 79986288 79990504 0.88 [{'connected_gene': 'RBM26', 'score': 10.62}, {'connected_gene': 'LINC01080', 'score': 0.34}, {'connected_gene': 'GC13P079936', 'score': 0.23}]
chr13 GH13I079280 79280893 79283689 0.92 [{'connected_gene': 'RBM26', 'score': 12.44}, {'connected_gene': 'GC13M079201', 'score': 0.22}, {'connected_gene': 'RNA5SP33', 'score': 0.14}]
chr13 GH13I079376 79376479 79378079 0.38 [{'connected_gene': 'RBM26', 'score': 22.41}, {'connected_gene': 'RBM26-AS1', 'score': 11.46}, {'connected_gene': 'RNA5SP33', 'score': 0.39}, {'connected_gene': 'GC13M079201', 'score': 0.1}]
chr13 GH13I079401 79401424 79402455 1.11 [{'connected_gene': 'RBM26', 'score': 11.23}, {'connected_gene': 'RBM26-AS1', 'score': 0.77}, {'connected_gene': 'RNA5SP33', 'score': 0.39}]
chr13 GH13I079481 79480566 79487626 2.24 [{'connected_gene': 'NDFIP2', 'score': 550.77}, {'connected_gene': 'RBM26-AS1', 'score': 38.78}, {'connected_gene': 'LINC01068', 'score': 20.78}, {'connected_gene': 'RBM26', 'score': 9.07}, {'connected_gene': 'NDFIP2-AS1', 'score': 0.77}]
chr13 GH13I078601 78601013 78604007 1.6 [{'connected_gene': 'POU4F1', 'score': 559.41}, {'connected_gene': 'RBM26', 'score': 17.83}, {'connected_gene': 'ENSG00000271776', 'score': 9.74}, {'connected_gene': 'GC13M078596', 'score': 0.77}, {'connected_gene': 'GC13M078602', 'score': 0.39}, {'connected_gene': 'RNF219-AS1', 'score': 0.03}]
chr13 GH13I079392 79392711 79395362 1.4 [{'connected_gene': 'LINC01068', 'score': 17.57}, {'connected_gene': 'RBM26', 'score': 10.97}, {'connected_gene': 'RNA5SP33', 'score': 0.77}, {'connected_gene': 'RBM26-AS1', 'score': 0.39}]
chr13 GH13I079524 79524926 79526530 0.8 [{'connected_gene': 'LINC01068', 'score': 21.03}, {'connected_gene': 'NDFIP2-AS1', 'score': 11.8}, {'connected_gene': 'NDFIP2', 'score': 11.78}, {'connected_gene': 'RBM26', 'score': 8.41}]
chr13 GH13I079434 79434645 79436071 0.69 [{'connected_gene': 'LINC01068', 'score': 18.38}, {'connected_gene': 'RBM26-AS1', 'score': 11.13}, {'connected_gene': 'RBM26', 'score': 11.13}, {'connected_gene': 'LOC105370274', 'score': 0.44}, {'connected_gene': 'NDFIP2', 'score': 0.25}]
chr13 GH13I079454 79454822 79456430 0.68 [{'connected_gene': 'NDFIP2-AS1', 'score': 12.82}, {'connected_gene': 'NDFIP2', 'score': 12.82}, {'connected_gene': 'RBM26', 'score': 8.01}, {'connected_gene': 'LOC105370274', 'score': 0.31}]
chr13 GH13I079500 79500746 79504108 0.52 [{'connected_gene': 'NDFIP2-AS1', 'score': 12.3}, {'connected_gene': 'NDFIP2', 'score': 12.3}, {'connected_gene': 'RBM26', 'score': 8.44}, {'connected_gene': 'LINC01068', 'score': 0.21}]
chr13 GH13I079424 79424166 79424315 0.63 [{'connected_gene': 'NDFIP2-AS1', 'score': 12.21}, {'connected_gene': 'NDFIP2', 'score': 12.21}, {'connected_gene': 'LOC105370274', 'score': 0.44}, {'connected_gene': 'RBM26-AS1', 'score': 0.37}, {'connected_gene': 'RBM26', 'score': 0.37}]
chr13 GH13I079522 79522567 79523221 0.86 [{'connected_gene': 'NDFIP2-AS1', 'score': 12.39}, {'connected_gene': 'NDFIP2', 'score': 12.39}, {'connected_gene': 'RBM26-AS1', 'score': 10.55}, {'connected_gene': 'RBM26', 'score': 10.55}, {'connected_gene': 'LINC01068', 'score': 0.26}]
chr13 GH13I079510 79510871 79513663 0.2 [{'connected_gene': 'NDFIP2-AS1', 'score': 12.07}, {'connected_gene': 'NDFIP2', 'score': 12.07}, {'connected_gene': 'RBM26-AS1', 'score': 10.42}, {'connected_gene': 'RBM26', 'score': 10.42}, {'connected_gene': 'LINC01068', 'score': 0.23}]
chr13 GH13I079391 79391406 79391555 0.6 [{'connected_gene': 'RNA5SP33', 'score': 550.77}, {'connected_gene': 'RBM26', 'score': 11.07}, {'connected_gene': 'RBM26-AS1', 'score': 0.39}]
chr13 GH13I079389 79389001 79389200 0.2 [{'connected_gene': 'RNA5SP33', 'score': 550.77}, {'connected_gene': 'RBM26', 'score': 10.86}, {'connected_gene': 'GC13M079201', 'score': 0.1}]
chr13 GH13I079385 79385752 79386055 1.14 [{'connected_gene': 'RNA5SP33', 'score': 0.77}, {'connected_gene': 'RBM26', 'score': 0.34}, {'connected_gene': 'GC13M079201', 'score': 0.1}]
chr13 GH13I079386 79386446 79386595 0.51 [{'connected_gene': 'RNA5SP33', 'score': 0.77}, {'connected_gene': 'RBM26', 'score': 0.37}, {'connected_gene': 'GC13M079201', 'score': 0.1}]
chr13 GH13I079541 79541566 79541715 0.65 [{'connected_gene': 'RBM26-AS1', 'score': 11.25}, {'connected_gene': 'RBM26', 'score': 11.25}, {'connected_gene': 'LINC01068', 'score': 0.31}, {'connected_gene': 'NDFIP2-AS1', 'score': 0.21}, {'connected_gene': 'NDFIP2', 'score': 0.21}]
chr13 GH13I079380 79380781 79383315 0.77 [{'connected_gene': 'RBM26-AS1', 'score': 49.11}, {'connected_gene': 'RBM26', 'score': 22.18}, {'connected_gene': 'LINC01068', 'score': 16.24}, {'connected_gene': 'RNA5SP33', 'score': 0.44}, {'connected_gene': 'GC13M079201', 'score': 0.1}]
chr13 GH13I079588 79588872 79592035 0.2 [{'connected_gene': 'RBM26-AS1', 'score': 9.28}, {'connected_gene': 'RBM26', 'score': 7.28}, {'connected_gene': 'LINC01068', 'score': 4.81}, {'connected_gene': 'GC13M079776', 'score': 0.09}]
chr13 GH13I079307 79307800 79308001 0.62 [{'connected_gene': 'RBM26-AS1', 'score': 10.69}, {'connected_gene': 'RBM26', 'score': 10.69}, {'connected_gene': 'RNA5SP33', 'score': 0.18}, {'connected_gene': 'GC13M079201', 'score': 0.18}]
chr13 GH13I079402 79402485 79407505 2.23 [{'connected_gene': 'RBM26-AS1', 'score': 590.79}, {'connected_gene': 'RBM26', 'score': 571.71}, {'connected_gene': 'RNA5SP33', 'score': 0.37}]

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