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
ENST00000602624 [[20978269, 20979021], [20979113, 20979220], [20979343, 20979464], [20980119, 20980267], [20980715, 20980864], [20981106, 20981200], [20981932, 20982027], [20982168, 20982272], [20982593, 20982680], [20987373, 20987484], [20987689, 20987884]] [[20978871, 20979021], [20979113, 20979220], [20979343, 20979464], [20980119, 20980267], [20980715, 20980864], [20981106, 20981200], [20981932, 20982027], [20982168, 20982272], [20982593, 20982680], [20987373, 20987484], [20987689, 20987843]]
ENST00000375048 [[20978269, 20979021], [20979113, 20979220], [20979343, 20979464], [20980119, 20980267], [20980715, 20980864], [20981106, 20981200], [20981932, 20982027], [20982168, 20982272], [20982593, 20982680], [20987373, 20987484], [20987689, 20988000]] [[20978871, 20979021], [20979113, 20979220], [20979343, 20979464], [20980119, 20980267], [20980715, 20980864], [20981106, 20981200], [20981932, 20982027], [20982168, 20982272], [20982593, 20982680], [20987373, 20987484], [20987689, 20987894]]
ENST00000415136 [[20978546, 20979021], [20979113, 20979220], [20979343, 20979464], [20980119, 20980267], [20980715, 20980864], [20981106, 20981200], [20981932, 20982027], [20982168, 20982272], [20982593, 20982680], [20987689, 20987898]] [[20978871, 20979021], [20979113, 20979220], [20979343, 20979464], [20980119, 20980267], [20980715, 20980864], [20981106, 20981200], [20981932, 20982027], [20982168, 20982272], [20982593, 20982680], [20987689, 20987894]]
ENST00000475210 [[20979126, 20979220], [20979343, 20979577]] None
ENST00000464364 [[20981932, 20982027], [20982168, 20982272], [20987373, 20987484], [20987689, 20987881]] [[20981932, 20982027], [20982168, 20982272], [20987373, 20987484], [20987689, 20987843]]
ENST00000477229 [[20986891, 20987484], [20987689, 20987862]] None
NM_005216 [[20978259, 20979021], [20979113, 20979220], [20979343, 20979464], [20980119, 20980267], [20980715, 20980864], [20981106, 20981200], [20981932, 20982027], [20982168, 20982272], [20982593, 20982680], [20987373, 20987484], [20987689, 20988037]] [[20978871, 20979021], [20979113, 20979220], [20979343, 20979464], [20980119, 20980267], [20980715, 20980864], [20981106, 20981200], [20981932, 20982027], [20982168, 20982272], [20982593, 20982680], [20987373, 20987484], [20987689, 20987894]]
Promoter
Chrom Start End Description
chr1 20987851 20987888 CAGE_peak_1_at_DDOST_5end
chr1 20987889 20987906 CAGE_peak_4_at_DDOST_5end
chr1 20987936 20987969 CAGE_peak_2_at_DDOST_5end
chr1 20987982 20988007 CAGE_peak_3_at_DDOST_5end
chr1 20988011 20988022 CAGE_peak_5_at_DDOST_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I021630 21630134 21635751 1.43 [{'connected_gene': 'ZBTB40', 'score': 27.43}, {'connected_gene': 'RAP1GAP', 'score': 25.71}, {'connected_gene': 'HP1BP3', 'score': 25.68}, {'connected_gene': 'USP48', 'score': 20.85}, {'connected_gene': 'CDC42-IT1', 'score': 14.02}, {'connected_gene': 'LOC105376834', 'score': 12.52}, {'connected_gene': 'ENSG00000271428', 'score': 11.18}, {'connected_gene': 'DDOST', 'score': 9.79}, {'connected_gene': 'HS6ST1P1', 'score': 4.57}, {'connected_gene': 'PIR35545', 'score': 0.29}]
chr1 GH01I021658 21658992 21660000 1.48 [{'connected_gene': 'ZBTB40', 'score': 15.75}, {'connected_gene': 'HP1BP3', 'score': 14.66}, {'connected_gene': 'CDC42-IT1', 'score': 14.03}, {'connected_gene': 'USP48', 'score': 12.16}, {'connected_gene': 'ALPL', 'score': 11.52}, {'connected_gene': 'ENSG00000271428', 'score': 11.18}, {'connected_gene': 'DDOST', 'score': 9.79}, {'connected_gene': 'RAP1GAP', 'score': 0.44}, {'connected_gene': 'PIR35545', 'score': 0.22}]
chr1 GH01I021610 21610867 21616791 1.09 [{'connected_gene': 'ZBTB40', 'score': 15.75}, {'connected_gene': 'HP1BP3', 'score': 14.65}, {'connected_gene': 'CDC42-IT1', 'score': 14.03}, {'connected_gene': 'RAP1GAP', 'score': 12.69}, {'connected_gene': 'USP48', 'score': 12.14}, {'connected_gene': 'ENSG00000271428', 'score': 11.18}, {'connected_gene': 'DDOST', 'score': 9.79}, {'connected_gene': 'PIR35545', 'score': 0.39}]
chr1 GH01I020601 20601201 20605429 1.42 [{'connected_gene': 'CDA', 'score': 26.94}, {'connected_gene': 'PINK1', 'score': 13.09}, {'connected_gene': 'HP1BP3', 'score': 11.28}, {'connected_gene': 'DDOST', 'score': 10.01}, {'connected_gene': 'GC01P020619', 'score': 0.37}]
chr1 GH01I021439 21439263 21441201 1.9 [{'connected_gene': 'NBPF3', 'score': 636.8}, {'connected_gene': 'NBPF2P', 'score': 35.6}, {'connected_gene': 'ZBTB40', 'score': 16.06}, {'connected_gene': 'CDC42-IT1', 'score': 13.86}, {'connected_gene': 'DDOST', 'score': 12.13}, {'connected_gene': 'ENSG00000271428', 'score': 11.8}, {'connected_gene': 'HP1BP3', 'score': 11.78}, {'connected_gene': 'PIR56533', 'score': 0.39}]
chr1 GH01I020610 20610902 20615067 1.32 [{'connected_gene': 'PINK1', 'score': 37.46}, {'connected_gene': 'CDA', 'score': 34.21}, {'connected_gene': 'OTUD3', 'score': 13.3}, {'connected_gene': 'FAM43B', 'score': 11.41}, {'connected_gene': 'DDOST', 'score': 5.15}, {'connected_gene': 'GC01P020619', 'score': 0.44}]
chr1 GH01I020678 20678601 20679200 0.69 [{'connected_gene': 'PINK1', 'score': 11.41}, {'connected_gene': 'SH2D5', 'score': 11.12}, {'connected_gene': 'ENSG00000233069', 'score': 11.12}, {'connected_gene': 'CDA', 'score': 9.63}, {'connected_gene': 'MUL1', 'score': 6.22}, {'connected_gene': 'DDOST', 'score': 0.37}, {'connected_gene': 'ENSG00000235432', 'score': 0.37}, {'connected_gene': 'KIF17', 'score': 0.28}]
chr1 GH01I020682 20682601 20683200 0.43 [{'connected_gene': 'PINK1', 'score': 11.41}, {'connected_gene': 'SH2D5', 'score': 11.14}, {'connected_gene': 'ENSG00000233069', 'score': 11.14}, {'connected_gene': 'ENSG00000235432', 'score': 0.39}, {'connected_gene': 'DDOST', 'score': 0.34}, {'connected_gene': 'KIF17', 'score': 0.28}]
chr1 GH01I020683 20683852 20686404 0.66 [{'connected_gene': 'PINK1', 'score': 11.39}, {'connected_gene': 'SH2D5', 'score': 11.14}, {'connected_gene': 'ENSG00000233069', 'score': 11.14}, {'connected_gene': 'UBXN10-AS1', 'score': 6.14}, {'connected_gene': 'EIF4G3', 'score': 4.29}, {'connected_gene': 'ENSG00000235432', 'score': 0.44}, {'connected_gene': 'DDOST', 'score': 0.34}, {'connected_gene': 'KIF17', 'score': 0.29}]
chr1 GH01I020474 20474162 20488000 2.76 [{'connected_gene': 'CAMK2N1', 'score': 558.12}, {'connected_gene': 'ENSG00000284743', 'score': 550.77}, {'connected_gene': 'HP1BP3', 'score': 43.66}, {'connected_gene': 'DDOST', 'score': 30.09}, {'connected_gene': 'OTUD3', 'score': 20.66}, {'connected_gene': 'MUL1', 'score': 19.41}, {'connected_gene': 'FAM43B', 'score': 16.74}, {'connected_gene': 'NBPF2P', 'score': 9.72}, {'connected_gene': 'ENSG00000284641', 'score': 0.77}]
chr1 GH01I021588 21588560 21589447 0.46 [{'connected_gene': 'HP1BP3', 'score': 15.19}, {'connected_gene': 'ZBTB40', 'score': 14.41}, {'connected_gene': 'LDLRAD2', 'score': 11.52}, {'connected_gene': 'HSPG2', 'score': 10.91}, {'connected_gene': 'DDOST', 'score': 10.26}, {'connected_gene': 'LOC105376834', 'score': 6.55}, {'connected_gene': 'CELA3B', 'score': 5.63}, {'connected_gene': 'RAP1GAP', 'score': 5.1}, {'connected_gene': 'PIR35545', 'score': 0.39}]
chr1 GH01I021368 21368400 21368801 1.16 [{'connected_gene': 'HP1BP3', 'score': 25.92}, {'connected_gene': 'CDC42-IT1', 'score': 14.0}, {'connected_gene': 'USP48', 'score': 12.08}, {'connected_gene': 'ECE1', 'score': 11.93}, {'connected_gene': 'ENSG00000236936', 'score': 11.8}, {'connected_gene': 'ENSG00000271428', 'score': 11.16}, {'connected_gene': 'DDOST', 'score': 9.79}, {'connected_gene': 'PPP1R11P1', 'score': 0.31}]
chr1 GH01I021331 21331602 21346770 2.9 [{'connected_gene': 'ECE1', 'score': 584.18}, {'connected_gene': 'HP1BP3', 'score': 100.88}, {'connected_gene': 'NBPF3', 'score': 64.56}, {'connected_gene': 'USP48', 'score': 59.01}, {'connected_gene': 'NBPF2P', 'score': 51.3}, {'connected_gene': 'CDC42-IT1', 'score': 20.29}, {'connected_gene': 'LDLRAD2', 'score': 11.49}, {'connected_gene': 'ENSG00000236936', 'score': 11.44}, {'connected_gene': 'HSPG2', 'score': 10.89}, {'connected_gene': 'MUL1', 'score': 10.78}, {'connected_gene': 'ENSG00000271428', 'score': 10.65}, {'connected_gene': 'DDOST', 'score': 10.26}, {'connected_gene': 'ALPL', 'score': 6.03}, {'connected_gene': 'EIF4G3', 'score': 4.9}, {'connected_gene': 'LOC100506801', 'score': 0.25}]
chr1 GH01I020659 20659788 20659937 0.2 [{'connected_gene': 'DDOST', 'score': 550.77}, {'connected_gene': 'PINK1', 'score': 12.01}, {'connected_gene': 'FAM43B', 'score': 10.45}, {'connected_gene': 'GC01P020654', 'score': 0.44}]
chr1 GH01I020665 20665801 20666000 0.31 [{'connected_gene': 'DDOST', 'score': 0.77}, {'connected_gene': 'GC01P020654', 'score': 0.39}, {'connected_gene': 'ENSG00000235432', 'score': 0.31}, {'connected_gene': 'KIF17', 'score': 0.23}]
chr1 GH01I020666 20666904 20667065 0.68 [{'connected_gene': 'DDOST', 'score': 0.44}, {'connected_gene': 'ENSG00000235432', 'score': 0.31}, {'connected_gene': 'KIF17', 'score': 0.23}]
chr1 GH01I020660 20660301 20662772 2.05 [{'connected_gene': 'DDOST', 'score': 556.56}, {'connected_gene': 'HP1BP3', 'score': 12.09}, {'connected_gene': 'GC01P020654', 'score': 0.44}, {'connected_gene': 'KIF17', 'score': 0.22}]
chr1 GH01I020578 20578740 20579733 0.2 [{'connected_gene': 'FAM43B', 'score': 11.24}, {'connected_gene': 'CAMK2N1', 'score': 9.78}, {'connected_gene': 'DDOST', 'score': 6.62}, {'connected_gene': 'CDA', 'score': 0.44}]