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
ENST00000249806 [[68499329, 68500748], [68501974, 68502097], [68503600, 68503656], [68504012, 68504201], [68506627, 68506726], [68510873, 68510988], [68521839, 68522080]] [[68500477, 68500748], [68501974, 68502097], [68503600, 68503656], [68504012, 68504201], [68506627, 68506726], [68510873, 68510988], [68521839, 68521922]]
ENST00000565471 [[68499967, 68500748], [68501974, 68502097], [68521839, 68522009]] [[68500477, 68500748], [68501974, 68502097], [68521839, 68521922]]
ENST00000567060 [[68500270, 68500748], [68501974, 68502058], [68506627, 68506726], [68510873, 68510988], [68521839, 68522008]] [[68502037, 68502058], [68506627, 68506726], [68510873, 68510988], [68521839, 68521922]]
ENST00000418702 [[68500270, 68500748], [68501974, 68502058], [68506627, 68506726], [68510873, 68510988], [68521839, 68522008]] [[68500477, 68500748], [68501974, 68502058], [68506627, 68506726], [68510873, 68510968]]
ENST00000566347 [[68500377, 68500748], [68501974, 68502097], [68503600, 68503656], [68506627, 68506726], [68510873, 68510988], [68521839, 68522056]] [[68500477, 68500748], [68501974, 68502097], [68503600, 68503656], [68506627, 68506726], [68510873, 68510988], [68521839, 68521922]]
ENST00000538696 [[68500404, 68500748], [68501974, 68502097], [68503600, 68503656], [68504012, 68504201], [68506627, 68506726], [68510873, 68510988], [68549027, 68549444]] [[68500477, 68500748], [68501974, 68502097], [68503600, 68503656], [68504012, 68504201], [68506627, 68506726], [68510873, 68510988], [68549027, 68549206]]
ENST00000564752 [[68500664, 68500748], [68501974, 68502097], [68503600, 68503656], [68503986, 68504201], [68506627, 68506726], [68510873, 68510988], [68521839, 68522047]] [[68502023, 68502097], [68503600, 68503656], [68503986, 68504201], [68506627, 68506726], [68510873, 68510988], [68521839, 68521922]]
ENST00000563917 [[68501963, 68502097], [68503600, 68503656], [68503893, 68504201], [68506627, 68506705]] None
ENST00000564846 [[68505594, 68506726], [68510873, 68510988], [68549034, 68549549]] None
ENST00000569336 [[68509750, 68509979], [68510804, 68510988], [68521839, 68522008]] None
NM_017882 [[68499329, 68500748], [68501974, 68502097], [68503600, 68503656], [68504012, 68504201], [68506627, 68506726], [68510873, 68510988], [68521839, 68522080]] [[68500477, 68500748], [68501974, 68502097], [68503600, 68503656], [68504012, 68504201], [68506627, 68506726], [68510873, 68510988], [68521839, 68521922]]
Promoter
Chrom Start End Description
chr15 68521959 68521970 CAGE_peak_3_at_CLN6_5end
chr15 68521972 68521983 CAGE_peak_2_at_CLN6_5end
chr15 68521996 68522085 CAGE_peak_1_at_CLN6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I067913 67913905 67919050 1.43 [{'connected_gene': 'CALML4', 'score': 18.91}, {'connected_gene': 'PIAS1', 'score': 6.86}, {'connected_gene': 'CLN6', 'score': 5.42}, {'connected_gene': 'IQCH', 'score': 4.04}, {'connected_gene': 'GC15M067974', 'score': 0.22}, {'connected_gene': 'GC15M067840', 'score': 0.18}, {'connected_gene': 'RNU6-1', 'score': 0.18}]
chr15 GH15I068138 68138101 68139732 0.64 [{'connected_gene': 'CALML4', 'score': 11.1}, {'connected_gene': 'CLN6', 'score': 10.48}, {'connected_gene': 'RNU6-1', 'score': 10.12}, {'connected_gene': 'LOC101929076', 'score': 10.12}, {'connected_gene': 'SKOR1', 'score': 10.12}, {'connected_gene': 'LOC105370871', 'score': 0.26}, {'connected_gene': 'PIAS1', 'score': 0.18}]
chr15 GH15I068203 68203601 68207801 1.73 [{'connected_gene': 'CALML4', 'score': 550.77}, {'connected_gene': 'CLN6', 'score': 13.43}, {'connected_gene': 'LOC105370871', 'score': 0.34}, {'connected_gene': 'ENSG00000260007', 'score': 0.34}]
chr15 GH15I068053 68053271 68056847 1.78 [{'connected_gene': 'PIAS1', 'score': 571.31}, {'connected_gene': 'IQCH-AS1', 'score': 29.7}, {'connected_gene': 'ENSG00000260657', 'score': 6.41}, {'connected_gene': 'CLN6', 'score': 4.02}, {'connected_gene': 'LOC105370871', 'score': 0.13}]
chr15 GH15I068201 68201113 68202052 0.43 [{'connected_gene': 'CLN6', 'score': 11.66}, {'connected_gene': 'CALML4', 'score': 0.77}, {'connected_gene': 'LOC105370871', 'score': 0.37}, {'connected_gene': 'ENSG00000260007', 'score': 0.31}]
chr15 GH15I068232 68232352 68233932 0.82 [{'connected_gene': 'CLN6', 'score': 13.96}, {'connected_gene': 'CALML4', 'score': 12.08}, {'connected_gene': 'ENSG00000260007', 'score': 0.77}, {'connected_gene': 'HMGN2P40', 'score': 0.34}]
chr15 GH15I068208 68208668 68211592 0.93 [{'connected_gene': 'CLN6', 'score': 13.29}, {'connected_gene': 'CALML4', 'score': 0.77}, {'connected_gene': 'ENSG00000260007', 'score': 0.37}]
chr15 GH15I068227 68227421 68231064 2.05 [{'connected_gene': 'CLN6', 'score': 563.94}, {'connected_gene': 'ENSG00000260007', 'score': 550.77}, {'connected_gene': 'PIAS1', 'score': 14.2}, {'connected_gene': 'FEM1B', 'score': 11.42}, {'connected_gene': 'RNU6-1', 'score': 10.66}, {'connected_gene': 'LOC101929076', 'score': 10.66}, {'connected_gene': 'SKOR1', 'score': 10.66}, {'connected_gene': 'IQCH-AS1', 'score': 10.03}, {'connected_gene': 'CALML4', 'score': 0.34}]
chr15 GH15I069036 69035361 69035510 0.49 [{'connected_gene': 'CLN6', 'score': 4.03}, {'connected_gene': 'ENSG00000259265', 'score': 0.44}, {'connected_gene': 'GC15M069021', 'score': 0.39}, {'connected_gene': 'NOX5', 'score': 0.15}]
chr15 GH15I069087 69087963 69093965 1.58 [{'connected_gene': 'CLN6', 'score': 4.83}, {'connected_gene': 'ENSG00000259222', 'score': 0.39}, {'connected_gene': 'EWSAT1', 'score': 0.37}, {'connected_gene': 'GC15M069102', 'score': 0.26}]
chr15 GH15I069065 69065614 69069359 0.64 [{'connected_gene': 'CLN6', 'score': 4.02}, {'connected_gene': 'EWSAT1', 'score': 0.44}, {'connected_gene': 'PIR43046', 'score': 0.39}]
chr15 GH15I068186 68186593 68188622 1.03 [{'connected_gene': 'CLN6', 'score': 11.29}, {'connected_gene': 'LOC105370871', 'score': 0.77}, {'connected_gene': 'CALML4', 'score': 0.37}, {'connected_gene': 'ENSG00000260007', 'score': 0.26}, {'connected_gene': 'PIAS1', 'score': 0.12}]
chr15 GH15I068113 68113250 68115461 1.01 [{'connected_gene': 'CLN6', 'score': 11.57}, {'connected_gene': 'LOC101929076', 'score': 10.91}, {'connected_gene': 'RNU6-1', 'score': 10.91}, {'connected_gene': 'SKOR1', 'score': 10.91}, {'connected_gene': 'PIAS1', 'score': 7.83}, {'connected_gene': 'LOC105370871', 'score': 0.2}]
chr15 GH15I068224 68224776 68225197 0.54 [{'connected_gene': 'CLN6', 'score': 13.55}, {'connected_gene': 'FEM1B', 'score': 11.4}, {'connected_gene': 'ENSG00000260007', 'score': 0.77}, {'connected_gene': 'CALML4', 'score': 0.37}]
chr15 GH15I068256 68256243 68257872 1.55 [{'connected_gene': 'CLN6', 'score': 557.02}, {'connected_gene': 'FEM1B', 'score': 12.4}, {'connected_gene': 'IQCH-AS1', 'score': 11.44}, {'connected_gene': 'HMGN2P40', 'score': 0.77}]
chr15 GH15I068248 68248801 68249600 0.43 [{'connected_gene': 'CLN6', 'score': 8.26}, {'connected_gene': 'HMGN2P40', 'score': 0.44}, {'connected_gene': 'ENSG00000260007', 'score': 0.37}]
chr15 GH15I068267 68267604 68269314 0.4 [{'connected_gene': 'CLN6', 'score': 5.12}, {'connected_gene': 'GC15P069504', 'score': 0.77}, {'connected_gene': 'ENSG00000260657', 'score': 0.44}]
chr15 GH15I068032 68032783 68032932 0.59 [{'connected_gene': 'CLN6', 'score': 4.02}, {'connected_gene': 'GC15M068027', 'score': 0.39}, {'connected_gene': 'GC15M068009', 'score': 0.37}]
chr15 GH15I068259 68259569 68260278 0.2 [{'connected_gene': 'CLN6', 'score': 0.77}, {'connected_gene': 'GC15P069504', 'score': 0.39}]
chr15 GH15I068258 68258800 68259001 0.51 [{'connected_gene': 'CLN6', 'score': 550.77}, {'connected_gene': 'GC15P069504', 'score': 0.39}]
chr15 GH15I068264 68263023 68263172 0.38 [{'connected_gene': 'CLN6', 'score': 5.73}, {'connected_gene': 'GC15P069504', 'score': 0.39}]
chr15 GH15I068265 68265971 68266601 0.2 [{'connected_gene': 'CLN6', 'score': 5.34}, {'connected_gene': 'GC15P069504', 'score': 0.44}]
chr15 GH15I068484 68484413 68485982 0.94 [{'connected_gene': 'ITGA11', 'score': 11.01}, {'connected_gene': 'CLN6', 'score': 4.33}, {'connected_gene': 'LOC105370873', 'score': 0.77}]
chr15 GH15I068253 68253043 68253212 0.71 [{'connected_gene': 'HMGN2P40', 'score': 550.77}, {'connected_gene': 'CLN6', 'score': 0.77}, {'connected_gene': 'ENSG00000260007', 'score': 0.34}]
chr15 GH15I069043 69043257 69046917 1.27 [{'connected_gene': 'ENSG00000259265', 'score': 550.77}, {'connected_gene': 'CLN6', 'score': 4.35}, {'connected_gene': 'PIR43046', 'score': 0.39}, {'connected_gene': 'NOX5', 'score': 0.14}]
chr15 GH15I068270 68270534 68274800 1.57 [{'connected_gene': 'GC15P069504', 'score': 550.77}, {'connected_gene': 'ENSG00000260657', 'score': 21.5}, {'connected_gene': 'CLN6', 'score': 5.16}]
chr15 GH15I068263 68263903 68264928 0.31 [{'connected_gene': 'GC15P069504', 'score': 0.44}, {'connected_gene': 'CLN6', 'score': 0.44}]

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