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
ENST00000540973 [[71934744, 71934847], [71935823, 71936095]] [[71936028, 71936095]]
ENST00000543234 [[71934987, 71935004], [71935823, 71936081]] [[71936028, 71936081]]
ENST00000298229 [[71935824, 71936210], [71939233, 71939297], [71939391, 71939542], [71939770, 71939891], [71940133, 71940274], [71940508, 71940602], [71940706, 71940796], [71940967, 71941063], [71941164, 71941315], [71941405, 71941512], [71941839, 71941942], [71942036, 71942233], [71942541, 71942659], [71943283, 71943380], [71943669, 71943808], [71943918, 71944018], [71944118, 71944207], [71944484, 71944566], [71944698, 71944788], [71945324, 71945438], [71945570, 71945659], [71946159, 71946247], [71946339, 71946495], [71946718, 71946797], [71946889, 71947030], [71948167, 71948840], [71949085, 71949219], [71949306, 71950149]] [[71936028, 71936210], [71939233, 71939297], [71939391, 71939542], [71939770, 71939891], [71940133, 71940274], [71940508, 71940602], [71940706, 71940796], [71940967, 71941063], [71941164, 71941315], [71941405, 71941512], [71941839, 71941942], [71942036, 71942233], [71942541, 71942659], [71943283, 71943380], [71943669, 71943808], [71943918, 71944018], [71944118, 71944207], [71944484, 71944566], [71944698, 71944788], [71945324, 71945438], [71945570, 71945659], [71946159, 71946247], [71946339, 71946495], [71946718, 71946797], [71946889, 71947030], [71948167, 71948840], [71949085, 71949219], [71949306, 71949397]]
ENST00000541756 [[71935824, 71936210], [71939233, 71939297], [71939391, 71939542], [71939770, 71939891], [71940133, 71940274], [71940508, 71940602], [71940706, 71940796], [71940967, 71941063], [71941164, 71941315], [71941405, 71941512], [71941839, 71941942], [71942036, 71942233], [71942541, 71942659], [71943283, 71943380], [71943669, 71943808], [71943918, 71944018], [71944118, 71944207], [71944484, 71944566], [71944698, 71944788], [71945324, 71945438], [71945570, 71945659], [71946159, 71946247], [71946339, 71946495], [71946718, 71946797], [71946889, 71947030], [71948167, 71948840], [71949085, 71949219], [71949306, 71950149]] [[71940575, 71940602], [71940706, 71940796], [71940967, 71941063], [71941164, 71941315], [71941405, 71941512], [71941839, 71941942], [71942036, 71942233], [71942541, 71942659], [71943283, 71943380], [71943669, 71943808], [71943918, 71944018], [71944118, 71944207], [71944484, 71944566], [71944698, 71944788], [71945324, 71945438], [71945570, 71945659], [71946159, 71946247], [71946339, 71946495], [71946718, 71946797], [71946889, 71947030], [71948167, 71948840], [71949085, 71949219], [71949306, 71949397]]
ENST00000541544 [[71936112, 71936210], [71939233, 71939297], [71939391, 71939759]] None
ENST00000538751 [[71938924, 71939297], [71939391, 71939542], [71939770, 71939891], [71940133, 71940274], [71940508, 71940602], [71940706, 71940796], [71940967, 71941063], [71941164, 71941315], [71941405, 71941512], [71941839, 71941942], [71942036, 71942233], [71942541, 71942659], [71943283, 71943380], [71943669, 71943808], [71943918, 71944018], [71944118, 71944207], [71944484, 71944566], [71944698, 71944788], [71945324, 71945438], [71945570, 71945659], [71946159, 71946247], [71946339, 71946495], [71946718, 71946797], [71946889, 71947030], [71948167, 71948840], [71949085, 71949219], [71949306, 71950149]] [[71940575, 71940602], [71940706, 71940796], [71940967, 71941063], [71941164, 71941315], [71941405, 71941512], [71941839, 71941942], [71942036, 71942233], [71942541, 71942659], [71943283, 71943380], [71943669, 71943808], [71943918, 71944018], [71944118, 71944207], [71944484, 71944566], [71944698, 71944788], [71945324, 71945438], [71945570, 71945659], [71946159, 71946247], [71946339, 71946495], [71946718, 71946797], [71946889, 71947030], [71948167, 71948840], [71949085, 71949219], [71949306, 71949397]]
ENST00000540329 [[71939511, 71939542], [71939770, 71939891], [71940133, 71940274], [71940508, 71940602], [71940967, 71941063], [71941164, 71941315], [71941405, 71941512]] [[71940575, 71940602], [71940967, 71941063], [71941164, 71941315], [71941405, 71941512]]
ENST00000537656 [[71939892, 71940274], [71940508, 71940602], [71940706, 71940780]] [[71940575, 71940602], [71940706, 71940780]]
ENST00000538339 [[71941761, 71941942], [71942036, 71942360]] None
ENST00000537755 [[71942185, 71942233], [71942541, 71942659], [71943283, 71943652]] None
ENST00000544806 [[71942293, 71942659], [71943283, 71943464]] None
ENST00000541303 [[71943351, 71943808], [71943918, 71944018], [71944118, 71944207], [71944484, 71944566], [71944698, 71944788], [71945324, 71945438], [71945570, 71945659], [71946159, 71946247], [71946339, 71946468]] None
ENST00000542295 [[71943914, 71944018], [71944118, 71944207], [71944484, 71944580]] None
ENST00000545355 [[71944553, 71944788], [71945324, 71945438], [71945570, 71945659], [71946159, 71946247], [71946339, 71946495], [71946718, 71946797], [71946889, 71946990]] None
ENST00000535985 [[71944723, 71944788], [71945324, 71945438], [71945570, 71945659], [71950064, 71950149]] [[71944723, 71944788], [71945324, 71945384]]
ENST00000541752 [[71948249, 71948840], [71949306, 71949571]] [[71948249, 71948840], [71949306, 71949309]]
ENST00000320683 [[71948703, 71948840], [71949085, 71949665]] [[71948703, 71948840], [71949085, 71949397]]
NM_001567 [[71935881, 71936210], [71939233, 71939297], [71939391, 71939542], [71939770, 71939891], [71940133, 71940274], [71940508, 71940602], [71940706, 71940796], [71940967, 71941063], [71941164, 71941315], [71941405, 71941512], [71941839, 71941942], [71942036, 71942233], [71942541, 71942659], [71943283, 71943380], [71943669, 71943808], [71943918, 71944018], [71944118, 71944207], [71944484, 71944566], [71944698, 71944788], [71945324, 71945438], [71945570, 71945659], [71946159, 71946247], [71946339, 71946495], [71946718, 71946797], [71946889, 71947030], [71948167, 71948840], [71949085, 71949219], [71949306, 71950191]] [[71936028, 71936210], [71939233, 71939297], [71939391, 71939542], [71939770, 71939891], [71940133, 71940274], [71940508, 71940602], [71940706, 71940796], [71940967, 71941063], [71941164, 71941315], [71941405, 71941512], [71941839, 71941942], [71942036, 71942233], [71942541, 71942659], [71943283, 71943380], [71943669, 71943808], [71943918, 71944018], [71944118, 71944207], [71944484, 71944566], [71944698, 71944788], [71945324, 71945438], [71945570, 71945659], [71946159, 71946247], [71946339, 71946495], [71946718, 71946797], [71946889, 71947030], [71948167, 71948840], [71949085, 71949219], [71949306, 71949397]]
Promoter
Chrom Start End Description
chr11 71934912 71934950 CAGE_peak_1_at_INPPL1_5end
chr11 71934962 71934976 CAGE_peak_3_at_INPPL1_5end
chr11 71935797 71935866 CAGE_peak_2_at_INPPL1_5end
chr11 71939032 71939040 CAGE_peak_23_at_INPPL1_5end
chr11 71939539 71939550 CAGE_peak_4_at_INPPL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I072221 72221253 72228423 2.46 [{'connected_gene': 'INPPL1', 'score': 552.16}, {'connected_gene': 'FOLR3', 'score': 7.21}, {'connected_gene': 'ENSG00000204971', 'score': 5.49}, {'connected_gene': 'GC11P072220', 'score': 0.77}, {'connected_gene': 'PIR50263', 'score': 0.77}, {'connected_gene': 'FOLR2', 'score': 0.44}, {'connected_gene': 'GC11M072240', 'score': 0.37}]
chr11 GH11I072236 72236978 72242335 0.99 [{'connected_gene': 'GC11M072240', 'score': 550.77}, {'connected_gene': 'FOLR3', 'score': 6.56}, {'connected_gene': 'CLPB', 'score': 5.52}, {'connected_gene': 'ENSG00000204971', 'score': 4.98}, {'connected_gene': 'PHOX2A', 'score': 0.44}, {'connected_gene': 'INPPL1', 'score': 0.37}, {'connected_gene': 'GC11P072220', 'score': 0.37}]

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