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
ENST00000326639 [[128982422, 128982556], [128995614, 128995673], [128996088, 128996148], [128998942, 128999117], [129003319, 129003460], [129012155, 129012299], [129012501, 129012667], [129019340, 129019485], [129028293, 129028468], [129035724, 129035897], [129042980, 129043343], [129083348, 129083472], [129098026, 129098062], [129099585, 129099797], [129100560, 129100667], [129120593, 129120754], [129121675, 129121820], [129127582, 129127692], [129128410, 129128538], [129131010, 129133143]] [[128996106, 128996148], [128998942, 128999117], [129003319, 129003460], [129012155, 129012299], [129012501, 129012667], [129019340, 129019485], [129028293, 129028468], [129035724, 129035897], [129042980, 129043343], [129083348, 129083472], [129098026, 129098062], [129099585, 129099797], [129100560, 129100667], [129120593, 129120754], [129121675, 129121820], [129127582, 129127692], [129128410, 129128538], [129131010, 129131208]]
ENST00000264584 [[128982502, 128982556], [128995614, 128995673], [128996088, 128996148], [128998942, 128999117], [129012155, 129012299], [129012501, 129012667], [129019340, 129019485], [129028293, 129028468], [129035724, 129035897], [129042980, 129043343], [129083348, 129083472], [129099585, 129099797], [129100560, 129100667], [129120593, 129120754], [129121675, 129121820], [129127582, 129127692], [129128410, 129128538], [129131010, 129132287]] [[128996106, 128996148], [128998942, 128999117], [129012155, 129012299], [129012501, 129012667], [129019340, 129019485], [129028293, 129028468], [129035724, 129035897], [129042980, 129043343], [129083348, 129083472], [129099585, 129099797], [129100560, 129100667], [129120593, 129120754], [129121675, 129121820], [129127582, 129127692], [129128410, 129128538], [129131010, 129131208]]
ENST00000441387 [[128982502, 128982556], [128995614, 128995673], [128996088, 128996148], [128998942, 128999117], [129003319, 129003460], [129012155, 129012299], [129012501, 129012667], [129019340, 129019485], [129028293, 129028468], [129035724, 129035897], [129042980, 129043343], [129083348, 129083472], [129098026, 129098062], [129099585, 129099797], [129100560, 129100667], [129120593, 129120754], [129121675, 129121820], [129128410, 129128538], [129131010, 129132287]] [[128996106, 128996148], [128998942, 128999117], [129003319, 129003460], [129012155, 129012299], [129012501, 129012667], [129019340, 129019485], [129028293, 129028468], [129035724, 129035897], [129042980, 129043343], [129083348, 129083472], [129098026, 129098062], [129099585, 129099797], [129100560, 129100667], [129120593, 129120754], [129121675, 129121820], [129128410, 129128465]]
ENST00000354456 [[128982502, 128982556], [128995614, 128995673], [128996088, 128996148], [128998942, 128999117], [129003319, 129003460], [129012155, 129012299], [129012501, 129012667], [129019340, 129019485], [129028293, 129028468], [129035724, 129035897], [129042980, 129043343], [129083348, 129083472], [129098026, 129098062], [129099585, 129099797], [129100560, 129100667], [129120593, 129120754], [129121675, 129121820], [129127582, 129127692], [129128410, 129128538], [129143503, 129143545]] [[129099644, 129099797], [129100560, 129100667], [129120593, 129120754], [129121675, 129121820], [129127582, 129127692], [129128410, 129128538], [129143503, 129143545]]
ENST00000507259 [[129043271, 129043343], [129099585, 129099797], [129100560, 129100667], [129120593, 129120754], [129121675, 129121820], [129127582, 129127692], [129128410, 129128538], [129143503, 129144081]] [[129043271, 129043343], [129099585, 129099591]]
ENST00000508648 [[129100468, 129100667], [129120593, 129120754], [129121675, 129121820], [129128410, 129128538], [129131010, 129131148], [129141509, 129141595], [129143503, 129143750]] None
ENST00000506199 [[129100468, 129100667], [129120593, 129120754], [129121675, 129121820], [129127582, 129127692], [129128410, 129128538], [129141509, 129141595], [129143503, 129144086]] None
ENST00000503725 [[129100501, 129100667], [129120593, 129120754], [129121675, 129121820], [129127582, 129127692], [129128410, 129128538], [129131010, 129131148], [129141509, 129141595], [129143503, 129143750]] None
ENST00000512292 [[128982440, 128982556], [128995614, 128995673], [128996088, 128996148], [128998942, 128999117], [129003319, 129003460], [129012155, 129012299], [129012501, 129012667], [129019340, 129019485], [129028293, 129028468], [129035724, 129035897], [129042980, 129043343], [129043636, 129045024]] [[128996106, 128996148], [128998942, 128999117], [129003319, 129003460], [129012155, 129012299], [129012501, 129012667], [129019340, 129019485], [129028293, 129028468], [129035724, 129035897], [129042980, 129043343], [129043636, 129043669]]
ENST00000508819 [[128982466, 128982556], [128995614, 128995673], [128996088, 128996148], [128998942, 128999117], [129012155, 129012299], [129012501, 129012667], [129019340, 129019485], [129028293, 129028468], [129035724, 129035897], [129042980, 129043343], [129083348, 129083472], [129099585, 129099797], [129100560, 129100565]] [[128996106, 128996148], [128998942, 128999117], [129012155, 129012299], [129012501, 129012667], [129019340, 129019485], [129028293, 129028468], [129035724, 129035897], [129042980, 129043343], [129083348, 129083472], [129099585, 129099797], [129100560, 129100565]]
ENST00000394288 [[128982489, 128982556], [128995614, 128995673], [128996088, 128996148], [128998942, 128999117], [129003319, 129003460], [129012155, 129012299], [129012501, 129012667], [129019340, 129019485], [129028293, 129028468], [129029037, 129030056]] [[128996106, 128996148], [128998942, 128999117], [129003319, 129003460], [129012155, 129012299], [129012501, 129012667], [129019340, 129019485], [129028293, 129028468], [129029037, 129029057]]
ENST00000432347 [[128982502, 128982556], [128995614, 128995673], [128996088, 128996148], [128998942, 128999117], [129003319, 129003460], [129012155, 129012299], [129012501, 129012667], [129019340, 129019485], [129028293, 129030056]] [[128996106, 128996148], [128998942, 128999117], [129003319, 129003460], [129012155, 129012299], [129012501, 129012667], [129019340, 129019485], [129028293, 129028557]]
ENST00000427266 [[128982502, 128982556], [128995614, 128995673], [128996088, 128996148], [128998942, 128999117], [129003319, 129003460], [129012155, 129012299], [129012501, 129012667], [129019340, 129019485], [129028293, 129028468], [129035724, 129035897], [129042980, 129043507]] [[128996106, 128996148], [128998942, 128999117], [129003319, 129003460], [129012155, 129012299], [129012501, 129012667], [129019340, 129019485], [129028293, 129028468], [129035724, 129035897], [129042980, 129043388]]
ENST00000507377 [[128998995, 128999117], [129003319, 129003460], [129012155, 129012299], [129012501, 129012667], [129019340, 129019485], [129028293, 129028468], [129035724, 129035897], [129042980, 129043507]] [[128998995, 128999117], [129003319, 129003460], [129012155, 129012299], [129012501, 129012667], [129019340, 129019485], [129028293, 129028468], [129035724, 129035897], [129042980, 129043388]]
NM_018078 [[128982420, 128982556], [128995614, 128995673], [128996088, 128996148], [128998942, 128999117], [129003319, 129003460], [129012155, 129012299], [129012501, 129012667], [129019340, 129019485], [129028293, 129028468], [129035724, 129035897], [129042980, 129043343], [129083348, 129083472], [129098026, 129098062], [129099585, 129099797], [129100560, 129100667], [129120593, 129120754], [129121675, 129121820], [129127582, 129127692], [129128410, 129128538], [129131010, 129132298]] [[128996106, 128996148], [128998942, 128999117], [129003319, 129003460], [129012155, 129012299], [129012501, 129012667], [129019340, 129019485], [129028293, 129028468], [129035724, 129035897], [129042980, 129043343], [129083348, 129083472], [129098026, 129098062], [129099585, 129099797], [129100560, 129100667], [129120593, 129120754], [129121675, 129121820], [129127582, 129127692], [129128410, 129128538], [129131010, 129131208]]
NM_001278604 [[128982420, 128982556], [128995614, 128995673], [128996088, 128996148], [128998942, 128999117], [129003319, 129003460], [129012155, 129012299], [129012501, 129012667], [129019340, 129019485], [129028293, 129028468], [129029037, 129030059]] [[128996106, 128996148], [128998942, 128999117], [129003319, 129003460], [129012155, 129012299], [129012501, 129012667], [129019340, 129019485], [129028293, 129028468], [129029037, 129029057]]
NM_032239 [[128982420, 128982556], [128995614, 128995673], [128996088, 128996148], [128998942, 128999117], [129003319, 129003460], [129012155, 129012299], [129012501, 129012667], [129019340, 129019485], [129028293, 129030059]] [[128996106, 128996148], [128998942, 128999117], [129003319, 129003460], [129012155, 129012299], [129012501, 129012667], [129019340, 129019485], [129028293, 129028557]]
NM_178043 [[128982420, 128982556], [128995614, 128995673], [128996088, 128996148], [128998942, 128999117], [129003319, 129003460], [129012155, 129012299], [129012501, 129012667], [129019340, 129019485], [129028293, 129028468], [129035724, 129035897], [129042980, 129043508]] [[128996106, 128996148], [128998942, 128999117], [129003319, 129003460], [129012155, 129012299], [129012501, 129012667], [129019340, 129019485], [129028293, 129028468], [129035724, 129035897], [129042980, 129043388]]
Promoter
Chrom Start End Description
chr4 128981932 128981949 CAGE_peak_6_at_LARP1B_5end
chr4 128981954 128981979 CAGE_peak_4_at_LARP1B_5end
chr4 128981999 128982013 CAGE_peak_7_at_LARP1B_5end
chr4 128982416 128982425 CAGE_peak_3_at_LARP1B_5end
chr4 128982430 128982488 CAGE_peak_1_at_LARP1B_5end
chr4 128982491 128982512 CAGE_peak_2_at_LARP1B_5end
chr4 129100483 129100494 CAGE_peak_10_at_LARP1B_5end
chr4 129100507 129100512 CAGE_peak_14_at_LARP1B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I128220 128220079 128221771 0.8 [{'connected_gene': 'ABHD18', 'score': 4.49}, {'connected_gene': 'INTU', 'score': 3.89}, {'connected_gene': 'FOSL1P1', 'score': 0.2}, {'connected_gene': 'PGRMC2', 'score': 0.2}, {'connected_gene': 'LARP1B', 'score': 0.1}]
chr4 GH04I128059 128059904 128063201 2.05 [{'connected_gene': 'LARP1B', 'score': 550.77}, {'connected_gene': 'GC04M128059', 'score': 550.77}, {'connected_gene': 'HSPA4L', 'score': 5.81}, {'connected_gene': 'INTU', 'score': 5.57}, {'connected_gene': 'ABHD18', 'score': 4.82}, {'connected_gene': 'RPL15P8', 'score': 0.44}]
chr4 GH04I128159 128159099 128164868 0.95 [{'connected_gene': 'HSPA4L', 'score': 5.37}, {'connected_gene': 'INTU', 'score': 5.04}, {'connected_gene': 'PGRMC2', 'score': 4.57}, {'connected_gene': 'FOSL1P1', 'score': 0.44}, {'connected_gene': 'LARP1B', 'score': 0.15}]
chr4 GH04I128191 128191201 128192000 0.94 [{'connected_gene': 'HSPA4L', 'score': 5.06}, {'connected_gene': 'FOSL1P1', 'score': 0.28}, {'connected_gene': 'PGRMC2', 'score': 0.15}, {'connected_gene': 'LARP1B', 'score': 0.12}]
chr4 GH04I128069 128069646 128069687 0.22 [{'connected_gene': 'RPL15P8', 'score': 550.77}, {'connected_gene': 'LARP1B', 'score': 0.44}, {'connected_gene': 'FOSL1P1', 'score': 0.17}]