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
ENST00000324616 [[40019984, 40020161], [40034756, 40034796], [40037580, 40037719], [40040130, 40040263], [40040641, 40040690], [40041593, 40041779], [40044040, 40044156], [40076412, 40076942], [40077216, 40077286], [40078668, 40078729], [40085850, 40085914], [40110557, 40110640], [40114588, 40115716]] [[40020138, 40020161], [40034756, 40034796], [40037580, 40037719], [40040130, 40040263], [40040641, 40040690], [40041593, 40041779], [40044040, 40044156], [40076412, 40076942], [40077216, 40077286], [40078668, 40078729], [40085850, 40085914], [40110557, 40110640], [40114588, 40115053]]
ENST00000468200 [[40020019, 40020161], [40034756, 40034796], [40040130, 40040263], [40040641, 40040690], [40041593, 40041779], [40044040, 40044156], [40076412, 40076942], [40077216, 40077286], [40077922, 40078114], [40078668, 40078729], [40085850, 40085914], [40110557, 40110640], [40130511, 40130701], [40139661, 40139848], [40148057, 40148134], [40158541, 40158611], [40182389, 40182470], [40196061, 40196184], [40301435, 40302102]] [[40040159, 40040263], [40040641, 40040690], [40041593, 40041779], [40044040, 40044156], [40076412, 40076942], [40077216, 40077286], [40077922, 40078052]]
ENST00000405531 [[40019968, 40020161], [40034756, 40034796], [40037580, 40037719], [40040130, 40040263], [40040641, 40040690], [40041593, 40041779], [40044040, 40044156], [40076412, 40076942], [40077216, 40077286], [40078668, 40078729], [40085850, 40085989]] [[40020138, 40020161], [40034756, 40034796], [40037580, 40037719], [40040130, 40040263], [40040641, 40040690], [40041593, 40041779], [40044040, 40044156], [40076412, 40076942], [40077216, 40077286], [40078668, 40078729], [40085850, 40085937]]
ENST00000398716 [[40019971, 40020161], [40034756, 40034796], [40037580, 40037719], [40040130, 40040263], [40040641, 40040690], [40041593, 40041779], [40044040, 40044156], [40076412, 40076942], [40077216, 40077286], [40077922, 40078052]] [[40040159, 40040263], [40040641, 40040690], [40041593, 40041779], [40044040, 40044156], [40076412, 40076942], [40077216, 40077286], [40077922, 40078052]]
NM_001031748 [[40019968, 40020161], [40034756, 40034796], [40037580, 40037719], [40040130, 40040263], [40040641, 40040690], [40041593, 40041779], [40044040, 40044156], [40076412, 40076942], [40077216, 40077286], [40078668, 40078729], [40085850, 40085914], [40110557, 40110640], [40114588, 40115716]] [[40020138, 40020161], [40034756, 40034796], [40037580, 40037719], [40040130, 40040263], [40040641, 40040690], [40041593, 40041779], [40044040, 40044156], [40076412, 40076942], [40077216, 40077286], [40078668, 40078729], [40085850, 40085914], [40110557, 40110640], [40114588, 40115053]]
NR_135051 [[40019968, 40020161], [40034756, 40034796], [40040130, 40040263], [40040641, 40040690], [40041593, 40041779], [40044040, 40044156], [40076412, 40076942], [40077216, 40077286], [40077922, 40078114], [40078668, 40078729], [40085850, 40085914], [40110557, 40110640], [40130511, 40130701], [40139661, 40139848], [40148057, 40148134], [40158541, 40158611], [40182389, 40182470], [40196061, 40196184], [40301435, 40302102]] None
NM_001319247 [[40019968, 40020161], [40034756, 40034796], [40037580, 40037719], [40040130, 40040263], [40040641, 40040690], [40041593, 40041779], [40044040, 40044156], [40076412, 40076942], [40077216, 40077286], [40078668, 40078729], [40085850, 40085989]] [[40020138, 40020161], [40034756, 40034796], [40037580, 40037719], [40040130, 40040263], [40040641, 40040690], [40041593, 40041779], [40044040, 40044156], [40076412, 40076942], [40077216, 40077286], [40078668, 40078729], [40085850, 40085937]]
Promoter
Chrom Start End Description
chr12 40019980 40020014 CAGE_peak_1_at_C12orf40_5end
chr12 40020016 40020021 CAGE_peak_2_at_C12orf40_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I039579 39579182 39584064 0.62 [{'connected_gene': 'KIF21A', 'score': 8.96}, {'connected_gene': 'ENSG00000270273', 'score': 0.26}, {'connected_gene': 'C12orf40', 'score': 0.26}, {'connected_gene': 'ABCD2', 'score': 0.2}, {'connected_gene': 'GC12P039462', 'score': 0.13}]
chr12 GH12I039831 39831374 39832636 0.69 [{'connected_gene': 'KIF21A', 'score': 7.62}, {'connected_gene': 'ENSG00000199571', 'score': 0.39}, {'connected_gene': 'GC12M039820', 'score': 0.39}, {'connected_gene': 'PIR55346', 'score': 0.34}, {'connected_gene': 'GC12M039853', 'score': 0.34}, {'connected_gene': 'C12orf40', 'score': 0.08}, {'connected_gene': 'SLC2A13', 'score': 0.06}]
chr12 GH12I039440 39440601 39444742 2.25 [{'connected_gene': 'KIF21A', 'score': 559.54}, {'connected_gene': 'C12orf40', 'score': 10.51}, {'connected_gene': 'GC12P039416', 'score': 0.31}]
chr12 GH12I039595 39595080 39602331 0.75 [{'connected_gene': 'C12orf40', 'score': 11.43}, {'connected_gene': 'KIF21A', 'score': 4.48}, {'connected_gene': 'ABCD2', 'score': 0.23}, {'connected_gene': 'ENSG00000270273', 'score': 0.22}, {'connected_gene': 'GC12P039462', 'score': 0.12}]
chr12 GH12I039585 39585229 39590964 0.54 [{'connected_gene': 'C12orf40', 'score': 11.5}, {'connected_gene': 'KIF21A', 'score': 8.95}, {'connected_gene': 'ENSG00000270273', 'score': 0.25}, {'connected_gene': 'ABCD2', 'score': 0.21}, {'connected_gene': 'GC12P039462', 'score': 0.13}]
chr12 GH12I039626 39626136 39626195 1.07 [{'connected_gene': 'C12orf40', 'score': 550.77}, {'connected_gene': 'ABCD2', 'score': 0.31}, {'connected_gene': 'ENSG00000270273', 'score': 0.17}, {'connected_gene': 'GC12P039462', 'score': 0.1}]
chr12 GH12I039606 39606139 39606288 0.51 [{'connected_gene': 'C12orf40', 'score': 0.37}, {'connected_gene': 'ABCD2', 'score': 0.25}, {'connected_gene': 'ENSG00000270273', 'score': 0.2}, {'connected_gene': 'GC12P039462', 'score': 0.11}]
chr12 GH12I039605 39605599 39605748 0.69 [{'connected_gene': 'C12orf40', 'score': 0.34}, {'connected_gene': 'ABCD2', 'score': 0.25}, {'connected_gene': 'ENSG00000270273', 'score': 0.2}, {'connected_gene': 'GC12P039462', 'score': 0.11}]
chr12 GH12I039682 39682524 39683714 0.31 [{'connected_gene': 'C12orf40', 'score': 15.97}, {'connected_gene': 'PIR34151', 'score': 0.39}, {'connected_gene': 'ABCD2', 'score': 0.29}, {'connected_gene': 'GC12P039462', 'score': 0.07}]
chr12 GH12I039591 39591771 39593506 0.64 [{'connected_gene': 'C12orf40', 'score': 10.9}, {'connected_gene': 'ENSG00000270273', 'score': 0.23}, {'connected_gene': 'ABCD2', 'score': 0.22}, {'connected_gene': 'GC12P039462', 'score': 0.13}]
chr12 GH12I039772 39772479 39773501 0.59 [{'connected_gene': 'C12orf40', 'score': 5.32}, {'connected_gene': 'GC12M039756', 'score': 0.37}, {'connected_gene': 'GC12M039794', 'score': 0.31}, {'connected_gene': 'SLC2A13', 'score': 0.06}]
chr12 GH12I039617 39617565 39623116 2.29 [{'connected_gene': 'ABCD2', 'score': 550.29}, {'connected_gene': 'KIF21A', 'score': 5.46}, {'connected_gene': 'C12orf40', 'score': 0.44}, {'connected_gene': 'ENSG00000270273', 'score': 0.18}, {'connected_gene': 'GC12P039462', 'score': 0.1}]
chr12 GH12I039752 39752551 39753508 0.2 [{'connected_gene': 'LINC02406', 'score': 4.96}, {'connected_gene': 'GC12M039756', 'score': 0.77}, {'connected_gene': 'PIR34151', 'score': 0.22}, {'connected_gene': 'C12orf40', 'score': 0.13}]
chr12 GH12I039627 39627599 39629302 0.46 [{'connected_gene': 'LINC02406', 'score': 5.26}, {'connected_gene': 'LINC02555', 'score': 4.7}, {'connected_gene': 'C12orf40', 'score': 0.77}, {'connected_gene': 'ABCD2', 'score': 0.34}, {'connected_gene': 'GC12P039462', 'score': 0.1}]
chr12 GH12I039575 39575539 39575648 0.4 [{'connected_gene': 'ENSG00000270273', 'score': 0.28}, {'connected_gene': 'C12orf40', 'score': 0.23}, {'connected_gene': 'ABCD2', 'score': 0.18}, {'connected_gene': 'GC12P039462', 'score': 0.14}]
chr12 GH12I039813 39813549 39814395 0.2 [{'connected_gene': 'ENSG00000199571', 'score': 0.44}, {'connected_gene': 'GC12M039820', 'score': 0.44}, {'connected_gene': 'GC12M039794', 'score': 0.39}, {'connected_gene': 'C12orf40', 'score': 0.09}, {'connected_gene': 'SLC2A13', 'score': 0.06}]
chr12 GH12I039902 39902939 39903088 0.52 [{'connected_gene': 'GC12P039941', 'score': 0.28}, {'connected_gene': 'PIR55346', 'score': 0.23}, {'connected_gene': 'GC12M039853', 'score': 0.23}, {'connected_gene': 'SLC2A13', 'score': 0.08}, {'connected_gene': 'C12orf40', 'score': 0.06}]