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
ENST00000265748 [[36429414, 36429653], [36435874, 36436028], [36438687, 36439002], [36445789, 36446175], [36447342, 36447565], [36450122, 36450313], [36450667, 36450775], [36455366, 36455493], [36456688, 36456799], [36458852, 36459088], [36459777, 36459923], [36460205, 36460353], [36461465, 36461601], [36462241, 36462418], [36463425, 36463552], [36464153, 36464202], [36464294, 36464351], [36465310, 36465349], [36465623, 36465645], [36466524, 36466637], [36478812, 36478899], [36483363, 36483471], [36489273, 36489446], [36492085, 36493400]] [[36429635, 36429653], [36435874, 36436028], [36438687, 36439002], [36445789, 36446175], [36447342, 36447565], [36450122, 36450313], [36450667, 36450775], [36455366, 36455493], [36456688, 36456799], [36458852, 36459088], [36459777, 36459923], [36460205, 36460353], [36461465, 36461601], [36462241, 36462418], [36463425, 36463552], [36464153, 36464202], [36464294, 36464351], [36465310, 36465349], [36465623, 36465645], [36466524, 36466637], [36478812, 36478899], [36483363, 36483471], [36489273, 36489446], [36492085, 36492209]]
ENST00000396068 [[36429429, 36429653], [36435874, 36436028], [36438687, 36439002], [36445789, 36446175], [36447342, 36447565], [36450122, 36450313], [36450667, 36450775], [36455366, 36455493], [36458852, 36459088], [36459777, 36459923], [36460205, 36460353], [36461465, 36461601], [36462241, 36462418], [36463425, 36463552], [36464153, 36464202], [36464294, 36464351], [36465310, 36465349], [36465623, 36465645], [36466524, 36466637], [36478812, 36478899], [36483363, 36483471], [36489273, 36489446], [36492085, 36493400]] [[36429635, 36429653], [36435874, 36436028], [36438687, 36439002], [36445789, 36446175], [36447342, 36447565], [36450122, 36450313], [36450667, 36450775], [36455366, 36455493], [36458852, 36459088], [36459777, 36459923], [36460205, 36460353], [36461465, 36461601], [36462241, 36462418], [36463425, 36463552], [36464153, 36464202], [36464294, 36464351], [36465310, 36465349], [36465623, 36465645], [36466524, 36466637], [36478812, 36478899], [36483363, 36483471], [36489273, 36489446], [36492085, 36492209]]
ENST00000424865 [[36429779, 36429820], [36435874, 36436028], [36438687, 36439002], [36445789, 36445875]] [[36435922, 36436028], [36438687, 36439002], [36445789, 36445875]]
ENST00000418118 [[36429843, 36430150], [36435874, 36436030]] [[36435922, 36436030]]
ENST00000460598 [[36443101, 36443175], [36445789, 36446175], [36447342, 36447451]] None
ENST00000429082 [[36446010, 36446175], [36447326, 36447565], [36450122, 36450275]] [[36446010, 36446175], [36447326, 36447383]]
ENST00000441696 [[36446011, 36446179], [36447342, 36447565], [36450122, 36450313], [36450667, 36450775], [36455366, 36455392]] [[36446011, 36446179], [36447342, 36447383]]
ENST00000452877 [[36446141, 36446179], [36447342, 36447565], [36450122, 36450313], [36455366, 36455494]] [[36446141, 36446179], [36447342, 36447383]]
ENST00000495714 [[36446159, 36446175], [36447342, 36447565], [36450122, 36450313], [36450667, 36450775], [36456688, 36456757]] None
ENST00000428612 [[36450168, 36450264], [36464153, 36464202], [36464294, 36464351], [36465310, 36465349], [36465623, 36465645], [36466524, 36466637], [36478812, 36478899], [36483363, 36483471], [36489273, 36489409]] [[36450168, 36450264], [36464153, 36464202], [36464294, 36464351], [36465310, 36465349], [36465623, 36465645], [36466524, 36466637], [36478812, 36478899], [36483363, 36483471], [36489273, 36489409]]
ENST00000446635 [[36459832, 36459923], [36460220, 36460353], [36461465, 36461601], [36462241, 36462418], [36463425, 36463552], [36464153, 36464202], [36464294, 36464351], [36465310, 36465349], [36465623, 36465643]] [[36459832, 36459923], [36460220, 36460353], [36461465, 36461601], [36462241, 36462418], [36463425, 36463552], [36464153, 36464202], [36464294, 36464351], [36465310, 36465349], [36465623, 36465643]]
ENST00000457743 [[36462331, 36462418], [36463425, 36463552], [36464153, 36464202], [36464294, 36464351], [36465310, 36465349], [36465623, 36465645], [36466524, 36466637], [36467915, 36467969], [36478812, 36478899], [36483363, 36483471], [36489273, 36489287]] [[36462331, 36462418], [36463425, 36463552], [36464153, 36464202], [36464294, 36464351], [36465310, 36465349], [36465623, 36465645], [36466524, 36466637], [36467915, 36467969], [36478812, 36478899], [36483363, 36483471], [36489273, 36489287]]
ENST00000491782 [[36488547, 36489446], [36492085, 36493264]] None
NM_001284302 [[36429411, 36429653], [36435874, 36436028], [36438687, 36439002], [36445789, 36446175], [36447342, 36447565], [36450122, 36450313], [36450667, 36450775], [36455366, 36455493], [36458855, 36459088], [36459777, 36459923], [36460205, 36460353], [36461465, 36461601], [36462241, 36462418], [36463425, 36463552], [36464153, 36464202], [36464294, 36464351], [36465310, 36465349], [36465623, 36465645], [36466524, 36466637], [36478812, 36478899], [36483363, 36483471], [36489273, 36489446], [36492085, 36493400]] [[36429635, 36429653], [36435874, 36436028], [36438687, 36439002], [36445789, 36446175], [36447342, 36447565], [36450122, 36450313], [36450667, 36450775], [36455366, 36455493], [36458855, 36459088], [36459777, 36459923], [36460205, 36460353], [36461465, 36461601], [36462241, 36462418], [36463425, 36463552], [36464153, 36464202], [36464294, 36464351], [36465310, 36465349], [36465623, 36465645], [36466524, 36466637], [36478812, 36478899], [36483363, 36483471], [36489273, 36489446], [36492085, 36492209]]
NM_001284301 [[36429411, 36429653], [36435874, 36436028], [36438687, 36439002], [36445789, 36446175], [36447342, 36447565], [36450122, 36450313], [36450667, 36450775], [36455366, 36455493], [36458852, 36459088], [36459777, 36459923], [36460205, 36460353], [36461465, 36461601], [36462241, 36462418], [36463425, 36463552], [36464153, 36464202], [36464294, 36464351], [36465310, 36465349], [36465623, 36465645], [36466524, 36466637], [36478812, 36478899], [36483363, 36483471], [36489273, 36489446], [36492085, 36493400]] [[36429635, 36429653], [36435874, 36436028], [36438687, 36439002], [36445789, 36446175], [36447342, 36447565], [36450122, 36450313], [36450667, 36450775], [36455366, 36455493], [36458852, 36459088], [36459777, 36459923], [36460205, 36460353], [36461465, 36461601], [36462241, 36462418], [36463425, 36463552], [36464153, 36464202], [36464294, 36464351], [36465310, 36465349], [36465623, 36465645], [36466524, 36466637], [36478812, 36478899], [36483363, 36483471], [36489273, 36489446], [36492085, 36492209]]
NM_018685 [[36429411, 36429653], [36435874, 36436028], [36438687, 36439002], [36445789, 36446175], [36447342, 36447565], [36450122, 36450313], [36450667, 36450775], [36455366, 36455493], [36456688, 36456799], [36458852, 36459088], [36459777, 36459923], [36460205, 36460353], [36461465, 36461601], [36462241, 36462418], [36463425, 36463552], [36464153, 36464202], [36464294, 36464351], [36465310, 36465349], [36465623, 36465645], [36466524, 36466637], [36478812, 36478899], [36483363, 36483471], [36489273, 36489446], [36492085, 36493400]] [[36429635, 36429653], [36435874, 36436028], [36438687, 36439002], [36445789, 36446175], [36447342, 36447565], [36450122, 36450313], [36450667, 36450775], [36455366, 36455493], [36456688, 36456799], [36458852, 36459088], [36459777, 36459923], [36460205, 36460353], [36461465, 36461601], [36462241, 36462418], [36463425, 36463552], [36464153, 36464202], [36464294, 36464351], [36465310, 36465349], [36465623, 36465645], [36466524, 36466637], [36478812, 36478899], [36483363, 36483471], [36489273, 36489446], [36492085, 36492209]]
Promoter
Chrom Start End Description
chr7 36429409 36429420 CAGE_peak_5_at_ANLN_5end
chr7 36429424 36429459 CAGE_peak_2_at_ANLN_5end
chr7 36429461 36429486 CAGE_peak_1_at_ANLN_5end
chr7 36446001 36446028 CAGE_peak_4_at_ANLN_5end
chr7 36446031 36446036 CAGE_peak_15_at_ANLN_5end
chr7 36446040 36446060 CAGE_peak_8_at_ANLN_5end
chr7 36446067 36446081 CAGE_peak_7_at_ANLN_5end
chr7 36446083 36446090 CAGE_peak_12_at_ANLN_5end
chr7 36446095 36446114 CAGE_peak_6_at_ANLN_5end
chr7 36446120 36446154 CAGE_peak_3_at_ANLN_5end
chr7 36447395 36447409 CAGE_peak_9_at_ANLN_5end
chr7 36447447 36447460 CAGE_peak_11_at_ANLN_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I036386 36386702 36397058 2.48 [{'connected_gene': 'KIAA0895', 'score': 590.51}, {'connected_gene': 'ANLN', 'score': 550.77}, {'connected_gene': 'HERPUD2', 'score': 13.07}, {'connected_gene': 'ENSG00000237400', 'score': 0.19}, {'connected_gene': 'GC07P036215', 'score': 0.1}]
chr7 GH07I036347 36347319 36348514 0.31 [{'connected_gene': 'KIAA0895', 'score': 33.82}, {'connected_gene': 'ANLN', 'score': 10.77}, {'connected_gene': 'GC07M036337', 'score': 0.39}, {'connected_gene': 'ENSG00000201432', 'score': 0.39}, {'connected_gene': 'GC07P036215', 'score': 0.12}]
chr7 GH07I036406 36406192 36406341 0.38 [{'connected_gene': 'KIAA0895', 'score': 16.33}, {'connected_gene': 'ANLN', 'score': 0.37}, {'connected_gene': 'ENSG00000237400', 'score': 0.22}, {'connected_gene': 'GC07P036215', 'score': 0.08}]
chr7 GH07I036458 36458812 36459944 0.46 [{'connected_gene': 'KIAA0895', 'score': 10.21}, {'connected_gene': 'ANLN', 'score': 10.21}, {'connected_gene': 'ENSG00000237400', 'score': 0.77}, {'connected_gene': 'GC07P036215', 'score': 0.07}]
chr7 GH07I036366 36366200 36367881 1.98 [{'connected_gene': 'KIAA0895', 'score': 577.48}, {'connected_gene': 'ANLN', 'score': 13.14}, {'connected_gene': 'GC07M036337', 'score': 0.31}, {'connected_gene': 'ENSG00000201432', 'score': 0.31}, {'connected_gene': 'GC07P036215', 'score': 0.1}]
chr7 GH07I036443 36441477 36442131 0.52 [{'connected_gene': 'KIAA0895', 'score': 9.04}, {'connected_gene': 'ENSG00000237400', 'score': 0.34}, {'connected_gene': 'ANLN', 'score': 0.23}, {'connected_gene': 'GC07P036215', 'score': 0.07}]
chr7 GH07I036399 36399360 36401533 0.52 [{'connected_gene': 'KIAA0895', 'score': 39.44}, {'connected_gene': 'ENSG00000237400', 'score': 10.69}, {'connected_gene': 'ANLN', 'score': 0.39}, {'connected_gene': 'GC07P036215', 'score': 0.09}]
chr7 GH07I036404 36404050 36405981 0.66 [{'connected_gene': 'KIAA0895', 'score': 13.1}, {'connected_gene': 'ENSG00000237400', 'score': 10.7}, {'connected_gene': 'ANLN', 'score': 0.37}, {'connected_gene': 'GC07P036215', 'score': 0.09}]
chr7 GH07I036880 36880999 36882045 0.31 [{'connected_gene': 'MIR1200', 'score': 11.07}, {'connected_gene': 'ANLN', 'score': 4.37}, {'connected_gene': 'LOC105375235', 'score': 0.77}, {'connected_gene': 'ENSG00000230831', 'score': 0.26}, {'connected_gene': 'ELMO1', 'score': 0.03}]
chr7 GH07I036349 36349772 36349921 0.31 [{'connected_gene': 'GC07M036337', 'score': 0.39}, {'connected_gene': 'ENSG00000201432', 'score': 0.39}, {'connected_gene': 'ANLN', 'score': 0.28}, {'connected_gene': 'KIAA0895', 'score': 0.26}, {'connected_gene': 'GC07P036215', 'score': 0.12}]
chr7 GH07I036442 36441204 36441261 0.46 [{'connected_gene': 'ENSG00000237400', 'score': 0.34}, {'connected_gene': 'KIAA0895', 'score': 0.23}, {'connected_gene': 'ANLN', 'score': 0.23}, {'connected_gene': 'GC07P036215', 'score': 0.07}]
chr7 GH07I036348 36348892 36349041 0.31 [{'connected_gene': 'GC07M036337', 'score': 0.39}, {'connected_gene': 'ENSG00000201432', 'score': 0.39}, {'connected_gene': 'KIAA0895', 'score': 0.26}, {'connected_gene': 'ANLN', 'score': 0.26}, {'connected_gene': 'GC07P036215', 'score': 0.12}]
chr7 GH07I036449 36449052 36449201 0.31 [{'connected_gene': 'ENSG00000237400', 'score': 0.39}, {'connected_gene': 'KIAA0895', 'score': 0.22}, {'connected_gene': 'ANLN', 'score': 0.22}, {'connected_gene': 'GC07P036215', 'score': 0.07}]
chr7 GH07I036448 36448232 36448381 0.31 [{'connected_gene': 'ENSG00000237400', 'score': 0.39}, {'connected_gene': 'KIAA0895', 'score': 0.22}, {'connected_gene': 'ANLN', 'score': 0.22}, {'connected_gene': 'GC07P036215', 'score': 0.07}]
chr7 GH07I036441 36441112 36441141 0.49 [{'connected_gene': 'ENSG00000237400', 'score': 0.34}, {'connected_gene': 'KIAA0895', 'score': 0.23}, {'connected_gene': 'ANLN', 'score': 0.23}, {'connected_gene': 'GC07P036215', 'score': 0.07}]

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