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
ENST00000273963 [[88081254, 88084794], [88085029, 88085231], [88091230, 88091390], [88091598, 88091767], [88097908, 88098020], [88099628, 88099772], [88104354, 88104541], [88106402, 88106951], [88116475, 88116842], [88141569, 88141760]] [[88084670, 88084794], [88085029, 88085231], [88091230, 88091390], [88091598, 88091767], [88097908, 88098020], [88099628, 88099772], [88104354, 88104541], [88106402, 88106951], [88116475, 88116691]]
ENST00000498875 [[88081400, 88084794], [88085029, 88085231], [88091230, 88091390], [88091598, 88091767], [88097908, 88098020], [88099628, 88099772], [88104354, 88104541], [88106402, 88106723], [88116475, 88116842], [88141569, 88141688]] [[88084670, 88084794], [88085029, 88085231], [88091230, 88091390], [88091598, 88091767], [88097908, 88098020], [88099628, 88099772], [88104354, 88104541], [88106402, 88106723], [88116475, 88116691]]
ENST00000425278 [[88082194, 88084794], [88085029, 88085231], [88091230, 88091390], [88091598, 88091767], [88097908, 88098020], [88099628, 88099772], [88104354, 88104541], [88116475, 88116842], [88141569, 88141677]] [[88084670, 88084794], [88085029, 88085231], [88091230, 88091390], [88091598, 88091767], [88097908, 88098020], [88099628, 88099772], [88104354, 88104541], [88116475, 88116691]]
ENST00000506985 [[88083595, 88084794], [88085029, 88085231], [88091230, 88091390], [88091598, 88091767], [88097908, 88098020], [88099628, 88099772], [88116475, 88116842], [88141569, 88141615]] [[88099754, 88099772], [88116475, 88116691]]
ENST00000545252 [[88083600, 88084794], [88085029, 88085231], [88091230, 88091390], [88091598, 88091767], [88097908, 88098020], [88099628, 88099772], [88116475, 88116842], [88141569, 88141615]] [[88084670, 88084794], [88085029, 88085231], [88091230, 88091390], [88091598, 88091767], [88097908, 88098020], [88099628, 88099671]]
ENST00000512111 [[88083673, 88084794], [88085029, 88085231], [88091230, 88091390], [88091598, 88091767], [88097908, 88098020], [88099628, 88099772], [88104354, 88104541], [88106402, 88106951], [88116475, 88116842], [88141186, 88141420]] [[88084670, 88084794], [88085029, 88085231], [88091230, 88091390], [88091598, 88091767], [88097908, 88098020], [88099628, 88099772], [88104354, 88104541], [88106402, 88106951], [88116475, 88116691]]
ENST00000505388 [[88085034, 88085231], [88091230, 88091390], [88091598, 88091767], [88141569, 88141649]] None
ENST00000504029 [[88091350, 88091390], [88091598, 88091767], [88097908, 88098020], [88099628, 88099772], [88141569, 88141697]] None
ENST00000506274 [[88140675, 88142542], [88161409, 88161466]] None
NM_001292003 [[88081254, 88084794], [88085029, 88085231], [88091230, 88091390], [88091598, 88091767], [88097908, 88098020], [88099628, 88099772], [88104354, 88104541], [88106402, 88106951], [88116475, 88116842], [88141186, 88141420]] [[88084670, 88084794], [88085029, 88085231], [88091230, 88091390], [88091598, 88091767], [88097908, 88098020], [88099628, 88099772], [88104354, 88104541], [88106402, 88106951], [88116475, 88116691]]
NM_020803 [[88081254, 88084794], [88085029, 88085231], [88091230, 88091390], [88091598, 88091767], [88097908, 88098020], [88099628, 88099772], [88104354, 88104541], [88106402, 88106951], [88116475, 88116842], [88141569, 88141760]] [[88084670, 88084794], [88085029, 88085231], [88091230, 88091390], [88091598, 88091767], [88097908, 88098020], [88099628, 88099772], [88104354, 88104541], [88106402, 88106951], [88116475, 88116691]]
NM_001292006 [[88081254, 88084794], [88085029, 88085231], [88091230, 88091390], [88091598, 88091767], [88097908, 88098020], [88099628, 88099772], [88104354, 88104541], [88106402, 88106723], [88116475, 88116842], [88141569, 88141760]] [[88084670, 88084794], [88085029, 88085231], [88091230, 88091390], [88091598, 88091767], [88097908, 88098020], [88099628, 88099772], [88104354, 88104541], [88106402, 88106723], [88116475, 88116691]]
NM_001292007 [[88081254, 88084794], [88085029, 88085231], [88091230, 88091390], [88091598, 88091767], [88097908, 88098020], [88099628, 88099772], [88104354, 88104541], [88116475, 88116842], [88141569, 88141760]] [[88084670, 88084794], [88085029, 88085231], [88091230, 88091390], [88091598, 88091767], [88097908, 88098020], [88099628, 88099772], [88104354, 88104541], [88116475, 88116691]]
NR_120447 [[88081254, 88084794], [88085029, 88085231], [88091230, 88091390], [88091598, 88091767], [88097908, 88098020], [88099628, 88099772], [88116475, 88116842], [88141569, 88141760]] None
Promoter
Chrom Start End Description
chr4 88141643 88141751 CAGE_peak_1_at_KLHL8_5end
chr4 88141755 88141791 CAGE_peak_2_at_KLHL8_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I087209 87209001 87210400 1.06 [{'connected_gene': 'KLHL8', 'score': 7.52}, {'connected_gene': 'AFF1', 'score': 6.19}, {'connected_gene': 'HSD17B13', 'score': 4.65}, {'connected_gene': 'HSD17B11', 'score': 1.5}, {'connected_gene': 'GAPDHP60', 'score': 0.77}, {'connected_gene': 'GC04P087226', 'score': 0.37}]
chr4 GH04I087143 87143651 87145220 0.38 [{'connected_gene': 'KLHL8', 'score': 11.06}, {'connected_gene': 'AFF1', 'score': 8.53}, {'connected_gene': 'HSD17B13', 'score': 6.6}, {'connected_gene': 'LOC100419572', 'score': 0.34}, {'connected_gene': 'GC04P087116', 'score': 0.31}]
chr4 GH04I087219 87219000 87221401 2.02 [{'connected_gene': 'KLHL8', 'score': 558.85}, {'connected_gene': 'HSD17B13', 'score': 8.68}, {'connected_gene': 'GC04P087226', 'score': 0.44}, {'connected_gene': 'GAPDHP60', 'score': 0.39}]
chr4 GH04I087153 87153698 87153938 0.22 [{'connected_gene': 'KLHL8', 'score': 6.8}, {'connected_gene': 'DSPP', 'score': 5.87}, {'connected_gene': 'LOC100419572', 'score': 0.39}, {'connected_gene': 'GC04P087116', 'score': 0.28}]
chr4 GH04I086279 86279257 86280560 0.38 [{'connected_gene': 'KLHL8', 'score': 4.17}, {'connected_gene': 'RN7SKP96', 'score': 0.22}, {'connected_gene': 'LOC101929064', 'score': 0.1}, {'connected_gene': 'MAPK10', 'score': 0.06}]
chr4 GH04I087150 87150909 87151058 0.74 [{'connected_gene': 'KLHL8', 'score': 6.24}, {'connected_gene': 'LOC100419572', 'score': 0.37}, {'connected_gene': 'GC04P087116', 'score': 0.29}]
chr4 GH04I086957 86957202 86963510 1.74 [{'connected_gene': 'AFF1', 'score': 22.44}, {'connected_gene': 'C4orf36', 'score': 13.29}, {'connected_gene': 'AFF1-AS1', 'score': 13.29}, {'connected_gene': 'LOC260422', 'score': 11.13}, {'connected_gene': 'MAPK10', 'score': 8.53}, {'connected_gene': 'NUDT9', 'score': 4.06}, {'connected_gene': 'KLHL8', 'score': 1.4}, {'connected_gene': 'PIR55151', 'score': 0.44}, {'connected_gene': 'GC04P086967', 'score': 0.44}, {'connected_gene': 'TECRP1', 'score': 0.39}]
chr4 GH04I087213 87213401 87213800 0.62 [{'connected_gene': 'GAPDHP60', 'score': 0.44}, {'connected_gene': 'GC04P087226', 'score': 0.39}, {'connected_gene': 'KLHL8', 'score': 0.31}]
chr4 GH04I087207 87207027 87207348 0.22 [{'connected_gene': 'GAPDHP60', 'score': 550.77}, {'connected_gene': 'HSD17B13', 'score': 8.34}, {'connected_gene': 'GC04P087226', 'score': 0.37}, {'connected_gene': 'KLHL8', 'score': 0.29}]
chr4 GH04I087235 87235062 87236600 0.94 [{'connected_gene': 'AFF1-AS1', 'score': 9.83}, {'connected_gene': 'C4orf36', 'score': 9.83}, {'connected_gene': 'AFF1', 'score': 9.82}, {'connected_gene': 'HSD17B11', 'score': 6.76}, {'connected_gene': 'KLHL8', 'score': 0.77}, {'connected_gene': 'GC04P087226', 'score': 0.44}]
chr4 GH04I087165 87165598 87167010 0.63 [{'connected_gene': 'LOC100419572', 'score': 550.77}, {'connected_gene': 'HSD17B13', 'score': 8.34}, {'connected_gene': 'KLHL8', 'score': 7.77}, {'connected_gene': 'GC04P087116', 'score': 0.25}]
chr4 GH04I087227 87227174 87229827 0.56 [{'connected_gene': 'GC04P087226', 'score': 550.77}, {'connected_gene': 'HSD17B13', 'score': 7.81}, {'connected_gene': 'AFF1', 'score': 5.78}, {'connected_gene': 'KLHL8', 'score': 0.39}]

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