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
ENST00000539841 [[62756625, 62763624], [62766392, 62766971]] None
ENST00000336232 [[62760295, 62760808], [62760895, 62761099], [62761241, 62761350], [62762013, 62762228], [62763175, 62763291], [62763500, 62763624], [62766392, 62766561], [62767159, 62767314], [62768191, 62768295], [62782097, 62782455], [62783200, 62783311]] [[62760708, 62760808], [62760895, 62761099], [62761241, 62761350], [62762013, 62762228], [62763175, 62763291], [62763500, 62763624], [62766392, 62766561], [62767159, 62767314], [62768191, 62768295], [62782097, 62782430]]
ENST00000451262 [[62760296, 62761099], [62761241, 62762929]] None
ENST00000545207 [[62760554, 62760808], [62760895, 62761099], [62761241, 62761350], [62762013, 62762228], [62763175, 62763291], [62763500, 62763624], [62766392, 62766561], [62767159, 62767314], [62768191, 62768295], [62782097, 62782182], [62783200, 62783287]] [[62760708, 62760808], [62760895, 62761099], [62761241, 62761350], [62762013, 62762228], [62763175, 62763291], [62763500, 62763624], [62766392, 62766561], [62767159, 62767314], [62768191, 62768295], [62782097, 62782157]]
ENST00000535878 [[62760699, 62760808], [62760895, 62761099], [62761241, 62761350], [62762013, 62762228], [62763175, 62763291], [62763500, 62763624], [62766392, 62766561], [62767159, 62767314], [62768191, 62768295], [62783200, 62783282]] [[62760708, 62760808], [62760895, 62761099], [62761241, 62761350], [62762013, 62762228], [62763175, 62763291], [62763500, 62763624], [62766392, 62766561], [62767159, 62767314], [62768191, 62768259]]
ENST00000311438 [[62760708, 62761099], [62761241, 62761350], [62762013, 62762228], [62763175, 62763291], [62763500, 62763624], [62766392, 62766561], [62767159, 62767314], [62768191, 62768295], [62782097, 62782430]] [[62760822, 62761099], [62761241, 62761350], [62762013, 62762228], [62763175, 62763291], [62763500, 62763624], [62766392, 62766561], [62767159, 62767314], [62768191, 62768295], [62782097, 62782430]]
ENST00000430500 [[62760708, 62760808], [62760895, 62761099], [62761241, 62761350], [62762013, 62762228], [62763175, 62763291], [62763500, 62763624], [62766392, 62766561], [62767159, 62767314], [62768191, 62768295], [62782097, 62782434], [62783200, 62783311]] [[62760708, 62760808], [62760895, 62761099], [62761241, 62761350], [62762013, 62762228], [62763175, 62763291], [62763500, 62763624], [62766392, 62766561], [62767159, 62767314], [62768191, 62768295], [62782097, 62782430]]
ENST00000542795 [[62763563, 62763624], [62766392, 62766561], [62767159, 62767314], [62768191, 62768295], [62768413, 62768467]] None
ENST00000542904 [[62763577, 62763624], [62766392, 62766561], [62767159, 62767314], [62768191, 62768468]] None
ENST00000544707 [[62782045, 62782455], [62783200, 62783311]] None
NM_004254 [[62760295, 62760808], [62760895, 62761099], [62761241, 62761350], [62762013, 62762228], [62763175, 62763291], [62763500, 62763624], [62766392, 62766561], [62767159, 62767314], [62768191, 62768295], [62782097, 62782455], [62783200, 62783317]] [[62760708, 62760808], [62760895, 62761099], [62761241, 62761350], [62762013, 62762228], [62763175, 62763291], [62763500, 62763624], [62766392, 62766561], [62767159, 62767314], [62768191, 62768295], [62782097, 62782430]]
NM_001184732 [[62760295, 62760808], [62760895, 62761099], [62761241, 62761350], [62762013, 62762228], [62763175, 62763291], [62763500, 62763624], [62766392, 62766561], [62767159, 62767314], [62768191, 62768295], [62782097, 62782434], [62783200, 62783317]] [[62760708, 62760808], [62760895, 62761099], [62761241, 62761350], [62762013, 62762228], [62763175, 62763291], [62763500, 62763624], [62766392, 62766561], [62767159, 62767314], [62768191, 62768295], [62782097, 62782430]]
NM_001184733 [[62760295, 62760808], [62760895, 62761099], [62761241, 62761350], [62762013, 62762228], [62763175, 62763291], [62763500, 62763624], [62766392, 62766561], [62767159, 62767314], [62768191, 62768295], [62782097, 62782182], [62783200, 62783317]] [[62760708, 62760808], [62760895, 62761099], [62761241, 62761350], [62762013, 62762228], [62763175, 62763291], [62763500, 62763624], [62766392, 62766561], [62767159, 62767314], [62768191, 62768295], [62782097, 62782157]]
NM_001184736 [[62760295, 62760808], [62760895, 62761099], [62761241, 62761350], [62762013, 62762228], [62763175, 62763291], [62763500, 62763624], [62766392, 62766561], [62767159, 62767314], [62768191, 62768295], [62783200, 62783317]] [[62760708, 62760808], [62760895, 62761099], [62761241, 62761350], [62762013, 62762228], [62763175, 62763291], [62763500, 62763624], [62766392, 62766561], [62767159, 62767314], [62768191, 62768259]]
Promoter
Chrom Start End Description
chr11 62783276 62783295 CAGE_peak_2_at_SLC22A8_5end
chr11 62783303 62783320 CAGE_peak_1_at_SLC22A8_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I062896 62896147 62896763 0.31 [{'connected_gene': 'SLC22A8', 'score': 11.0}, {'connected_gene': 'BSCL2', 'score': 5.49}, {'connected_gene': 'ROM1', 'score': 5.15}, {'connected_gene': 'GC11P062886', 'score': 0.44}, {'connected_gene': 'ENSG00000257002', 'score': 0.39}]
chr11 GH11I063245 63245872 63249207 0.81 [{'connected_gene': 'SLC22A8', 'score': 10.65}, {'connected_gene': 'SLC22A9', 'score': 10.49}, {'connected_gene': 'SLC22A25', 'score': 9.57}, {'connected_gene': 'LOC105369334', 'score': 0.77}, {'connected_gene': 'SLC22A10', 'score': 0.14}]
chr11 GH11I063021 63021069 63021218 0.54 [{'connected_gene': 'SLC22A8', 'score': 0.44}, {'connected_gene': 'GC11P063016', 'score': 0.44}, {'connected_gene': 'LOC100127954', 'score': 0.39}]
chr11 GH11I063020 63020749 63020918 0.64 [{'connected_gene': 'SLC22A8', 'score': 0.77}, {'connected_gene': 'GC11P063016', 'score': 0.44}, {'connected_gene': 'LOC100127954', 'score': 0.39}]
chr11 GH11I062895 62895300 62895780 0.31 [{'connected_gene': 'SLC22A8', 'score': 11.0}, {'connected_gene': 'GC11P062886', 'score': 0.44}, {'connected_gene': 'ENSG00000257002', 'score': 0.39}]
chr11 GH11I063012 63012407 63013033 0.6 [{'connected_gene': 'SLC22A8', 'score': 0.77}, {'connected_gene': 'GC11P063016', 'score': 0.77}, {'connected_gene': 'PIR40065', 'score': 0.31}]
chr11 GH11I063015 63015802 63015861 0.61 [{'connected_gene': 'SLC22A8', 'score': 550.77}, {'connected_gene': 'GC11P063016', 'score': 550.77}]
chr11 GH11I063023 63023618 63024758 0.98 [{'connected_gene': 'COX8A', 'score': 4.93}, {'connected_gene': 'SLC22A8', 'score': 0.44}, {'connected_gene': 'LOC100127954', 'score': 0.44}, {'connected_gene': 'GC11P063016', 'score': 0.44}]