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
ENST00000455332 [[119225924, 119227632], [119227896, 119228017], [119228192, 119228300], [119228466, 119228545], [119228690, 119228771], [119228858, 119228962], [119229482, 119229547], [119229733, 119229844], [119229940, 119230052], [119230246, 119230370], [119230893, 119230944], [119252182, 119252421]] [[119227544, 119227632], [119227896, 119228017], [119228192, 119228300], [119228466, 119228545], [119228690, 119228771], [119228858, 119228962], [119229482, 119229547], [119229733, 119229844], [119229940, 119230052], [119230246, 119230370], [119230893, 119230944], [119252182, 119252227]]
ENST00000260187 [[119225925, 119227632], [119227896, 119228017], [119228192, 119228300], [119228466, 119228545], [119228690, 119228771], [119228858, 119228962], [119229482, 119229547], [119229733, 119229844], [119229940, 119230052], [119230246, 119230370], [119230893, 119230944], [119243416, 119244231], [119252182, 119252436]] [[119227544, 119227632], [119227896, 119228017], [119228192, 119228300], [119228466, 119228545], [119228690, 119228771], [119228858, 119228962], [119229482, 119229547], [119229733, 119229844], [119229940, 119230052], [119230246, 119230370], [119230893, 119230944], [119243416, 119244190]]
ENST00000525735 [[119227243, 119227632], [119227896, 119228017], [119228192, 119228300], [119228466, 119228545], [119228690, 119228771], [119228858, 119228962], [119229482, 119229547], [119229733, 119229844], [119229940, 119230052], [119230246, 119230370], [119230893, 119230944], [119234558, 119234917]] [[119227544, 119227632], [119227896, 119228017], [119228192, 119228300], [119228466, 119228545], [119228690, 119228771], [119228858, 119228962], [119229482, 119229547], [119229733, 119229844], [119229940, 119230052], [119230246, 119230370], [119230893, 119230944], [119234558, 119234705]]
ENST00000525189 [[119228744, 119228771], [119228858, 119228962], [119229482, 119229547], [119229733, 119230052], [119230246, 119230370], [119230893, 119230924]] None
ENST00000532613 [[119229374, 119229547], [119229733, 119229844], [119229940, 119230052], [119230246, 119230370], [119230893, 119230944], [119234558, 119234624]] None
ENST00000531070 [[119243687, 119244231], [119246933, 119247066]] [[119243687, 119244190]]
ENST00000527843 [[119243777, 119244231], [119249716, 119249825]] [[119243777, 119244190]]
NM_171997 [[119225924, 119227632], [119227896, 119228017], [119228192, 119228300], [119228466, 119228545], [119228690, 119228771], [119228858, 119228962], [119229482, 119229547], [119229733, 119229844], [119229940, 119230052], [119230246, 119230370], [119230893, 119230944], [119234558, 119234892]] [[119227544, 119227632], [119227896, 119228017], [119228192, 119228300], [119228466, 119228545], [119228690, 119228771], [119228858, 119228962], [119229482, 119229547], [119229733, 119229844], [119229940, 119230052], [119230246, 119230370], [119230893, 119230944], [119234558, 119234705]]
NM_004205 [[119225924, 119227632], [119227896, 119228017], [119228192, 119228300], [119228466, 119228545], [119228690, 119228771], [119228858, 119228962], [119229482, 119229547], [119229733, 119229844], [119229940, 119230052], [119230246, 119230370], [119230893, 119230944], [119243416, 119244231], [119252182, 119252436]] [[119227544, 119227632], [119227896, 119228017], [119228192, 119228300], [119228466, 119228545], [119228690, 119228771], [119228858, 119228962], [119229482, 119229547], [119229733, 119229844], [119229940, 119230052], [119230246, 119230370], [119230893, 119230944], [119243416, 119244190]]
NM_001243759 [[119225924, 119227632], [119227896, 119228017], [119228192, 119228300], [119228466, 119228545], [119228690, 119228771], [119228858, 119228962], [119229482, 119229547], [119229733, 119229844], [119229940, 119230052], [119230246, 119230370], [119230893, 119230944], [119252182, 119252436]] [[119227544, 119227632], [119227896, 119228017], [119228192, 119228300], [119228466, 119228545], [119228690, 119228771], [119228858, 119228962], [119229482, 119229547], [119229733, 119229844], [119229940, 119230052], [119230246, 119230370], [119230893, 119230944], [119252182, 119252227]]
Promoter
Chrom Start End Description
chr11 119234849 119234860 CAGE_peak_10_at_USP2_5end
chr11 119234876 119234929 CAGE_peak_1_at_USP2_5end
chr11 119234934 119234941 CAGE_peak_11_at_USP2_5end
chr11 119243903 119243915 CAGE_peak_18_at_USP2_5end
chr11 119246963 119246974 CAGE_peak_13_at_USP2_5end
chr11 119246981 119247003 CAGE_peak_8_at_USP2_5end
chr11 119247004 119247044 CAGE_peak_6_at_USP2_5end
chr11 119249771 119249786 CAGE_peak_2_at_USP2_5end
chr11 119249805 119249830 CAGE_peak_5_at_USP2_5end
chr11 119252271 119252296 CAGE_peak_7_at_USP2_5end
chr11 119252311 119252329 CAGE_peak_4_at_USP2_5end
chr11 119252339 119252358 CAGE_peak_9_at_USP2_5end
chr11 119252359 119252419 CAGE_peak_3_at_USP2_5end
chr11 119252425 119252430 CAGE_peak_16_at_USP2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I119360 119360106 119365873 2.16 [{'connected_gene': 'USP2', 'score': 558.95}, {'connected_gene': 'RNF26', 'score': 17.37}, {'connected_gene': 'ENSG00000245385', 'score': 12.54}, {'connected_gene': 'THY1', 'score': 10.72}, {'connected_gene': 'ABCG4', 'score': 10.39}, {'connected_gene': 'NLRX1', 'score': 10.36}, {'connected_gene': 'LOC101929089', 'score': 10.06}, {'connected_gene': 'GC11M119369', 'score': 0.44}, {'connected_gene': 'C1QTNF5', 'score': 0.37}, {'connected_gene': 'MFRP', 'score': 0.37}]
chr11 GH11I119374 119374251 119379776 1.89 [{'connected_gene': 'USP2', 'score': 561.6}, {'connected_gene': 'THY1', 'score': 21.97}, {'connected_gene': 'MFRP', 'score': 11.8}, {'connected_gene': 'C1QTNF5', 'score': 11.8}, {'connected_gene': 'ENSG00000254740', 'score': 0.77}]
chr11 GH11I119352 119352471 119353664 1.18 [{'connected_gene': 'USP2', 'score': 20.15}, {'connected_gene': 'IFT46', 'score': 14.64}, {'connected_gene': 'KMT2A', 'score': 13.16}, {'connected_gene': 'VPS11', 'score': 12.28}, {'connected_gene': 'RPL5P30', 'score': 12.27}, {'connected_gene': 'USP2-AS1', 'score': 12.2}, {'connected_gene': 'ENSG00000255121', 'score': 11.11}, {'connected_gene': 'THY1', 'score': 10.7}, {'connected_gene': 'NLRX1', 'score': 10.36}, {'connected_gene': 'C1QTNF5', 'score': 0.44}, {'connected_gene': 'MFRP', 'score': 0.44}, {'connected_gene': 'GC11M119369', 'score': 0.37}]
chr11 GH11I119356 119356201 119357615 1.23 [{'connected_gene': 'USP2', 'score': 18.28}, {'connected_gene': 'USP2-AS1', 'score': 12.23}, {'connected_gene': 'THY1', 'score': 10.71}, {'connected_gene': 'NLRX1', 'score': 10.36}, {'connected_gene': 'MFRP', 'score': 0.39}, {'connected_gene': 'C1QTNF5', 'score': 0.39}, {'connected_gene': 'GC11M119369', 'score': 0.39}]
chr11 GH11I119380 119380176 119382540 2.25 [{'connected_gene': 'USP2', 'score': 559.66}, {'connected_gene': 'USP2-AS1', 'score': 550.77}, {'connected_gene': 'THY1', 'score': 11.29}, {'connected_gene': 'ENSG00000254740', 'score': 0.44}]
chr11 GH11I119346 119346868 119348005 0.54 [{'connected_gene': 'MFRP', 'score': 550.77}, {'connected_gene': 'C1QTNF5', 'score': 550.77}, {'connected_gene': 'RNF26', 'score': 6.03}, {'connected_gene': 'USP2', 'score': 5.25}, {'connected_gene': 'GC11M119369', 'score': 0.34}]
chr11 GH11I119423 119423869 119425681 0.63 [{'connected_gene': 'THY1', 'score': 570.02}, {'connected_gene': 'USP2', 'score': 17.96}, {'connected_gene': 'USP2-AS1', 'score': 11.91}, {'connected_gene': 'ENSG00000254740', 'score': 11.88}, {'connected_gene': 'HINFP', 'score': 10.92}, {'connected_gene': 'C1QTNF5', 'score': 10.56}, {'connected_gene': 'MFRP', 'score': 10.56}, {'connected_gene': 'ENSG00000263873', 'score': 0.44}]
chr11 GH11I119469 119469778 119471750 1.05 [{'connected_gene': 'THY1', 'score': 23.56}, {'connected_gene': 'USP2', 'score': 17.69}, {'connected_gene': 'USP2-AS1', 'score': 12.11}, {'connected_gene': 'ENSG00000254740', 'score': 12.09}, {'connected_gene': 'C1QTNF5', 'score': 11.29}, {'connected_gene': 'MFRP', 'score': 11.29}, {'connected_gene': 'LOC105369520', 'score': 10.73}, {'connected_gene': 'GC11P119452', 'score': 0.37}, {'connected_gene': 'GC11P119503', 'score': 0.29}]
chr11 GH11I119459 119459295 119462169 0.94 [{'connected_gene': 'THY1', 'score': 35.35}, {'connected_gene': 'USP2', 'score': 18.89}, {'connected_gene': 'USP2-AS1', 'score': 12.12}, {'connected_gene': 'ENSG00000254740', 'score': 12.11}, {'connected_gene': 'C1QTNF5', 'score': 11.3}, {'connected_gene': 'MFRP', 'score': 11.3}, {'connected_gene': 'GC11P119452', 'score': 0.44}, {'connected_gene': 'GC11P119503', 'score': 0.26}]
chr11 GH11I119432 119432008 119433969 0.94 [{'connected_gene': 'THY1', 'score': 19.22}, {'connected_gene': 'USP2', 'score': 6.28}, {'connected_gene': 'GC11M119445', 'score': 0.39}, {'connected_gene': 'USP2-AS1', 'score': 0.23}]
chr11 GH11I119366 119366354 119372784 1.63 [{'connected_gene': 'THY1', 'score': 21.83}, {'connected_gene': 'C1QTNF5', 'score': 13.53}, {'connected_gene': 'ABCG4', 'score': 12.67}, {'connected_gene': 'MFRP', 'score': 12.31}, {'connected_gene': 'USP2', 'score': 10.41}, {'connected_gene': 'NLRX1', 'score': 10.12}, {'connected_gene': 'H2AFX', 'score': 5.28}, {'connected_gene': 'ENSG00000254740', 'score': 0.77}, {'connected_gene': 'GC11M119369', 'score': 0.77}]
chr11 GH11I119425 119425955 119426138 0.38 [{'connected_gene': 'THY1', 'score': 550.77}, {'connected_gene': 'USP2-AS1', 'score': 11.91}, {'connected_gene': 'USP2', 'score': 11.91}, {'connected_gene': 'ENSG00000254740', 'score': 11.88}, {'connected_gene': 'MFRP', 'score': 10.56}, {'connected_gene': 'C1QTNF5', 'score': 10.56}, {'connected_gene': 'GC11M119445', 'score': 0.37}]
chr11 GH11I119426 119426250 119426940 0.38 [{'connected_gene': 'THY1', 'score': 569.97}, {'connected_gene': 'USP2-AS1', 'score': 11.91}, {'connected_gene': 'USP2', 'score': 11.91}, {'connected_gene': 'ENSG00000254740', 'score': 11.88}, {'connected_gene': 'MFRP', 'score': 10.56}, {'connected_gene': 'C1QTNF5', 'score': 10.56}, {'connected_gene': 'GC11M119445', 'score': 0.37}]
chr11 GH11I119444 119444675 119448283 0.89 [{'connected_gene': 'DUXAP5', 'score': 550.77}, {'connected_gene': 'GC11M119445', 'score': 550.77}, {'connected_gene': 'THY1', 'score': 24.6}, {'connected_gene': 'USP2', 'score': 6.23}, {'connected_gene': 'GC11P119452', 'score': 0.44}, {'connected_gene': 'USP2-AS1', 'score': 0.21}]
chr11 GH11I119755 119755803 119755946 0.61 [{'connected_gene': 'RNU6-1123P', 'score': 11.07}, {'connected_gene': 'USP2', 'score': 1.91}, {'connected_gene': 'GC11P119746', 'score': 0.39}, {'connected_gene': 'GC11P119786', 'score': 0.29}]
chr11 GH11I119725 119725679 119730962 2.37 [{'connected_gene': 'LOC102724301', 'score': 557.82}, {'connected_gene': 'NECTIN1', 'score': 550.77}, {'connected_gene': 'USP2', 'score': 1.4}, {'connected_gene': 'GC11P119714', 'score': 0.39}]
chr11 GH11I119297 119297402 119300509 0.63 [{'connected_gene': 'GC11P119299', 'score': 550.77}, {'connected_gene': 'GC11P119300', 'score': 550.77}, {'connected_gene': 'CBL', 'score': 20.94}, {'connected_gene': 'NLRX1', 'score': 11.15}, {'connected_gene': 'ABCG4', 'score': 10.89}, {'connected_gene': 'C1QTNF5', 'score': 10.84}, {'connected_gene': 'MFRP', 'score': 10.84}, {'connected_gene': 'MCAM', 'score': 9.25}, {'connected_gene': 'HMBS', 'score': 6.58}, {'connected_gene': 'IFT46', 'score': 5.49}, {'connected_gene': 'USP2', 'score': 4.99}, {'connected_gene': 'RNU6-262P', 'score': 0.44}]
chr11 GH11I119373 119373651 119373800 0.51 [{'connected_gene': 'ENSG00000254740', 'score': 550.77}, {'connected_gene': 'GC11M119369', 'score': 550.77}, {'connected_gene': 'MFRP', 'score': 11.45}, {'connected_gene': 'C1QTNF5', 'score': 11.45}, {'connected_gene': 'USP2', 'score': 0.44}]

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