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
ENST00000329099 [[289768, 293285], [295626, 295730]] [[292954, 293285], [295626, 295730]]
NM_182705 [[289768, 293285], [295626, 295731]] [[292954, 293285], [295626, 295731]]
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I000377 377090 377179 0.72 [{'connected_gene': 'DOC2B', 'score': 11.51}, {'connected_gene': 'RFLNB', 'score': 11.46}, {'connected_gene': 'C17orf97', 'score': 8.57}, {'connected_gene': 'RPH3AL', 'score': 0.44}, {'connected_gene': 'GC17M000276', 'score': 0.44}, {'connected_gene': 'ENSG00000262558', 'score': 0.34}]
chr17 GH17I000379 379645 380512 0.31 [{'connected_gene': 'DOC2B', 'score': 11.51}, {'connected_gene': 'RFLNB', 'score': 11.46}, {'connected_gene': 'C17orf97', 'score': 9.07}, {'connected_gene': 'RPH3AL', 'score': 6.7}, {'connected_gene': 'GC17M000276', 'score': 0.77}, {'connected_gene': 'ENSG00000262558', 'score': 0.31}]
chr17 GH17I000309 309216 309739 0.72 [{'connected_gene': 'DOC2B', 'score': 12.21}, {'connected_gene': 'RFLNB', 'score': 10.6}, {'connected_gene': 'LOC100506388', 'score': 6.77}, {'connected_gene': 'PIR31127', 'score': 0.77}, {'connected_gene': 'PIR56598', 'score': 0.37}, {'connected_gene': 'GC17M000276', 'score': 0.19}, {'connected_gene': 'RPH3AL', 'score': 0.18}]
chr17 GH17I000307 307446 308499 0.58 [{'connected_gene': 'DOC2B', 'score': 12.21}, {'connected_gene': 'RFLNB', 'score': 10.6}, {'connected_gene': 'LOC100506388', 'score': 7.41}, {'connected_gene': 'PIR31127', 'score': 0.44}, {'connected_gene': 'PIR56598', 'score': 0.39}, {'connected_gene': 'GC17M000276', 'score': 0.19}, {'connected_gene': 'RPH3AL', 'score': 0.18}]
chr17 GH17I000689 689401 696604 1.44 [{'connected_gene': 'VPS53', 'score': 28.12}, {'connected_gene': 'FAM57A', 'score': 23.83}, {'connected_gene': 'C17orf97', 'score': 11.76}, {'connected_gene': 'RFLNB', 'score': 11.3}, {'connected_gene': 'DOC2B', 'score': 10.4}, {'connected_gene': 'TIMM22', 'score': 10.12}, {'connected_gene': 'GEMIN4', 'score': 5.94}, {'connected_gene': 'ENSG00000263015', 'score': 4.98}, {'connected_gene': 'GC17M000676', 'score': 0.39}, {'connected_gene': 'GC17P000714', 'score': 0.34}]
chr17 GH17I000703 703217 705084 0.43 [{'connected_gene': 'VPS53', 'score': 39.85}, {'connected_gene': 'FAM57A', 'score': 12.45}, {'connected_gene': 'C17orf97', 'score': 11.53}, {'connected_gene': 'RFLNB', 'score': 10.75}, {'connected_gene': 'GLOD4', 'score': 10.52}, {'connected_gene': 'DOC2B', 'score': 10.32}, {'connected_gene': 'MRM3', 'score': 10.08}, {'connected_gene': 'GEMIN4', 'score': 6.01}, {'connected_gene': 'GC17P000714', 'score': 0.39}, {'connected_gene': 'GC17M000676', 'score': 0.31}]
chr17 GH17I000705 705626 706726 0.2 [{'connected_gene': 'VPS53', 'score': 28.61}, {'connected_gene': 'FAM57A', 'score': 22.91}, {'connected_gene': 'C17orf97', 'score': 11.53}, {'connected_gene': 'RFLNB', 'score': 10.74}, {'connected_gene': 'GLOD4', 'score': 10.52}, {'connected_gene': 'DOC2B', 'score': 10.32}, {'connected_gene': 'MRM3', 'score': 10.08}, {'connected_gene': 'GC17P000714', 'score': 0.44}, {'connected_gene': 'GC17M000676', 'score': 0.31}]
chr17 GH17I000675 675474 677294 0.2 [{'connected_gene': 'VPS53', 'score': 51.06}, {'connected_gene': 'C17orf97', 'score': 11.66}, {'connected_gene': 'DOC2B', 'score': 11.3}, {'connected_gene': 'RFLNB', 'score': 10.99}, {'connected_gene': 'GEMIN4', 'score': 5.83}, {'connected_gene': 'ENSG00000263015', 'score': 4.88}, {'connected_gene': 'GC17M000676', 'score': 0.77}, {'connected_gene': 'RPS4XP17', 'score': 0.37}]
chr17 GH17I000673 673098 674621 0.54 [{'connected_gene': 'VPS53', 'score': 39.71}, {'connected_gene': 'C17orf97', 'score': 11.66}, {'connected_gene': 'DOC2B', 'score': 11.3}, {'connected_gene': 'RFLNB', 'score': 11.0}, {'connected_gene': 'GEMIN4', 'score': 5.79}, {'connected_gene': 'ENSG00000263015', 'score': 4.88}, {'connected_gene': 'GC17M000676', 'score': 0.44}, {'connected_gene': 'RPS4XP17', 'score': 0.37}]
chr17 GH17I000669 669021 669170 0.46 [{'connected_gene': 'VPS53', 'score': 11.89}, {'connected_gene': 'C17orf97', 'score': 11.67}, {'connected_gene': 'DOC2B', 'score': 11.3}, {'connected_gene': 'RFLNB', 'score': 11.0}, {'connected_gene': 'GC17M000676', 'score': 0.44}, {'connected_gene': 'RPS4XP17', 'score': 0.39}]
chr17 GH17I000671 671399 671725 0.49 [{'connected_gene': 'VPS53', 'score': 19.48}, {'connected_gene': 'C17orf97', 'score': 11.66}, {'connected_gene': 'DOC2B', 'score': 11.3}, {'connected_gene': 'RFLNB', 'score': 11.0}, {'connected_gene': 'GC17M000676', 'score': 0.44}, {'connected_gene': 'RPS4XP17', 'score': 0.39}]
chr17 GH17I000699 699224 700049 0.43 [{'connected_gene': 'VPS53', 'score': 28.74}, {'connected_gene': 'C17orf97', 'score': 12.24}, {'connected_gene': 'FAM57A', 'score': 11.69}, {'connected_gene': 'RFLNB', 'score': 11.43}, {'connected_gene': 'GLOD4', 'score': 10.2}, {'connected_gene': 'NXN', 'score': 9.98}, {'connected_gene': 'GC17P000714', 'score': 0.37}, {'connected_gene': 'GC17M000676', 'score': 0.34}]
chr17 GH17I000559 559203 563293 0.96 [{'connected_gene': 'VPS53', 'score': 33.04}, {'connected_gene': 'C17orf97', 'score': 11.51}, {'connected_gene': 'LOC105371430', 'score': 11.46}, {'connected_gene': 'RFLNB', 'score': 11.21}, {'connected_gene': 'GC17P000565', 'score': 0.77}, {'connected_gene': 'GC17P000555', 'score': 0.44}]
chr17 GH17I000426 426927 428122 0.2 [{'connected_gene': 'VPS53', 'score': 11.4}, {'connected_gene': 'C17orf97', 'score': 4.82}, {'connected_gene': 'LOC105371430', 'score': 0.39}, {'connected_gene': 'RFLNB', 'score': 0.37}]
chr17 GH17I000548 548308 552033 0.86 [{'connected_gene': 'VPS53', 'score': 25.42}, {'connected_gene': 'RFLNB', 'score': 8.71}, {'connected_gene': 'ENSG00000263015', 'score': 5.95}, {'connected_gene': 'FAM57A', 'score': 5.14}, {'connected_gene': 'ENSG00000262228', 'score': 4.88}, {'connected_gene': 'C17orf97', 'score': 4.75}, {'connected_gene': 'ENSG00000262905', 'score': 0.77}, {'connected_gene': 'GC17M000536', 'score': 0.39}]
chr17 GH17I000594 594401 598098 0.86 [{'connected_gene': 'VPS53', 'score': 30.2}, {'connected_gene': 'RFLNB', 'score': 17.07}, {'connected_gene': 'C17orf97', 'score': 11.77}, {'connected_gene': 'GC17P000599', 'score': 0.77}, {'connected_gene': 'GC17P000572', 'score': 0.34}]
chr17 GH17I000530 530330 532023 0.2 [{'connected_gene': 'VPS53', 'score': 35.95}, {'connected_gene': 'RFLNB', 'score': 12.55}, {'connected_gene': 'CRK', 'score': 4.68}, {'connected_gene': 'GC17P000528', 'score': 0.77}, {'connected_gene': 'ENSG00000263300', 'score': 0.44}, {'connected_gene': 'GC17M000536', 'score': 0.44}]
chr17 GH17I000599 599974 604049 1.46 [{'connected_gene': 'VPS53', 'score': 34.93}, {'connected_gene': 'RFLNB', 'score': 17.53}, {'connected_gene': 'LOC105371430', 'score': 11.9}, {'connected_gene': 'C17orf97', 'score': 11.77}, {'connected_gene': 'FAM57A', 'score': 11.44}, {'connected_gene': 'GEMIN4', 'score': 6.19}, {'connected_gene': 'GC17P000599', 'score': 0.77}, {'connected_gene': 'GC17M000605', 'score': 0.39}]
chr17 GH17I000607 607060 609856 0.69 [{'connected_gene': 'VPS53', 'score': 34.74}, {'connected_gene': 'RFLNB', 'score': 11.59}, {'connected_gene': 'ENSG00000263015', 'score': 4.86}, {'connected_gene': 'GC17P000599', 'score': 0.44}, {'connected_gene': 'GC17M000605', 'score': 0.44}]
chr17 GH17I000533 533600 536161 0.97 [{'connected_gene': 'VPS53', 'score': 39.07}, {'connected_gene': 'RFLNB', 'score': 23.43}, {'connected_gene': 'ENSG00000263015', 'score': 6.33}, {'connected_gene': 'GC17M000536', 'score': 0.77}, {'connected_gene': 'GC17P000528', 'score': 0.44}, {'connected_gene': 'ENSG00000263300', 'score': 0.39}]
chr17 GH17I000494 494601 495377 0.51 [{'connected_gene': 'VPS53', 'score': 7.13}, {'connected_gene': 'RFLNB', 'score': 6.5}, {'connected_gene': 'ENSG00000263015', 'score': 5.31}, {'connected_gene': 'GC17M000494', 'score': 0.77}]
chr17 GH17I000545 545580 547691 0.2 [{'connected_gene': 'VPS53', 'score': 41.53}, {'connected_gene': 'RFLNB', 'score': 10.59}, {'connected_gene': 'ENSG00000263015', 'score': 6.56}, {'connected_gene': 'GC17M000536', 'score': 0.44}, {'connected_gene': 'ENSG00000262905', 'score': 0.44}]
chr17 GH17I000563 563741 563890 0.2 [{'connected_gene': 'C17orf97', 'score': 11.51}, {'connected_gene': 'RFLNB', 'score': 11.15}, {'connected_gene': 'DOC2B', 'score': 9.87}, {'connected_gene': 'GC17P000565', 'score': 0.77}, {'connected_gene': 'GC17P000555', 'score': 0.44}, {'connected_gene': 'VPS53', 'score': 0.1}]
chr17 GH17I000418 418036 420517 0.89 [{'connected_gene': 'C17orf97', 'score': 33.59}, {'connected_gene': 'GC17P000416', 'score': 0.77}, {'connected_gene': 'LOC105371430', 'score': 0.77}, {'connected_gene': 'RFLNB', 'score': 0.31}]
chr17 GH17I000651 651786 653115 0.31 [{'connected_gene': 'RFLNB', 'score': 11.62}, {'connected_gene': 'DOC2B', 'score': 10.2}, {'connected_gene': 'VPS53', 'score': 9.8}, {'connected_gene': 'GEMIN4', 'score': 5.66}, {'connected_gene': 'GC17M000664', 'score': 0.44}, {'connected_gene': 'ENSG00000262708', 'score': 0.28}]
chr17 GH17I000604 604907 605175 0.4 [{'connected_gene': 'RFLNB', 'score': 11.36}, {'connected_gene': 'GEMIN4', 'score': 6.01}, {'connected_gene': 'VPS53', 'score': 4.89}, {'connected_gene': 'GC17P000599', 'score': 0.44}, {'connected_gene': 'GC17M000605', 'score': 0.44}]
chr17 GH17I000632 632550 634408 0.63 [{'connected_gene': 'RFLNB', 'score': 5.72}, {'connected_gene': 'GEMIN4', 'score': 5.63}, {'connected_gene': 'ENSG00000263015', 'score': 4.9}, {'connected_gene': 'ENSG00000262708', 'score': 0.37}, {'connected_gene': 'GC17M000664', 'score': 0.34}, {'connected_gene': 'VPS53', 'score': 0.17}]
chr17 GH17I000445 445850 445909 0.5 [{'connected_gene': 'RFLNB', 'score': 550.77}, {'connected_gene': 'LOC105371430', 'score': 0.31}]
chr17 GH17I000423 423470 423619 0.74 [{'connected_gene': 'LOC105371430', 'score': 0.44}, {'connected_gene': 'C17orf97', 'score': 0.39}, {'connected_gene': 'RFLNB', 'score': 0.34}]
chr17 GH17I000198 198580 201136 0.59 [{'connected_gene': 'LINC02091', 'score': 20.87}, {'connected_gene': 'RFLNB', 'score': 10.06}, {'connected_gene': 'RPH3AL', 'score': 8.36}, {'connected_gene': 'GC17M000176', 'score': 0.44}, {'connected_gene': 'PIR39774', 'score': 0.37}]
chr17 GH17I000312 312651 313667 0.38 [{'connected_gene': 'PIR31127', 'score': 550.77}, {'connected_gene': 'DOC2B', 'score': 12.2}, {'connected_gene': 'RFLNB', 'score': 10.6}, {'connected_gene': 'PIR56598', 'score': 0.34}, {'connected_gene': 'GC17M000276', 'score': 0.2}, {'connected_gene': 'RPH3AL', 'score': 0.19}]
chr17 GH17I000517 517206 517496 0.2 [{'connected_gene': 'GC17M000518', 'score': 550.77}, {'connected_gene': 'PIR32780', 'score': 550.77}, {'connected_gene': 'GC17P000518', 'score': 550.77}, {'connected_gene': 'GC17M000517', 'score': 550.77}, {'connected_gene': 'VPS53', 'score': 28.83}, {'connected_gene': 'RFLNB', 'score': 13.66}, {'connected_gene': 'C17orf97', 'score': 11.28}, {'connected_gene': 'ENSG00000263015', 'score': 6.53}, {'connected_gene': 'GC17M000511', 'score': 0.77}]
chr17 GH17I000518 518284 521973 1.06 [{'connected_gene': 'GC17M000518', 'score': 550.77}, {'connected_gene': 'PIR32780', 'score': 550.77}, {'connected_gene': 'GC17P000518', 'score': 550.77}, {'connected_gene': 'GC17M000517', 'score': 550.77}, {'connected_gene': 'VPS53', 'score': 31.1}, {'connected_gene': 'RFLNB', 'score': 16.69}, {'connected_gene': 'C17orf97', 'score': 11.28}, {'connected_gene': 'ENSG00000263015', 'score': 6.58}, {'connected_gene': 'ENSG00000263300', 'score': 0.77}]
chr17 GH17I000537 537161 539712 0.96 [{'connected_gene': 'GC17M000536', 'score': 550.77}, {'connected_gene': 'VPS53', 'score': 39.12}, {'connected_gene': 'RFLNB', 'score': 12.54}, {'connected_gene': 'C17orf97', 'score': 11.35}, {'connected_gene': 'GC17P000528', 'score': 0.44}, {'connected_gene': 'ENSG00000263300', 'score': 0.37}]
chr17 GH17I000540 540642 541404 0.43 [{'connected_gene': 'GC17M000536', 'score': 550.77}, {'connected_gene': 'VPS53', 'score': 31.43}, {'connected_gene': 'RFLNB', 'score': 22.69}, {'connected_gene': 'C17orf97', 'score': 11.34}, {'connected_gene': 'ENSG00000263015', 'score': 6.33}, {'connected_gene': 'ENSG00000262905', 'score': 0.39}]
chr17 GH17I000566 566101 567831 0.2 [{'connected_gene': 'GC17P000565', 'score': 550.77}, {'connected_gene': 'VPS53', 'score': 33.22}, {'connected_gene': 'RFLNB', 'score': 18.1}, {'connected_gene': 'ENSG00000263015', 'score': 5.27}, {'connected_gene': 'DBIL5P', 'score': 5.07}, {'connected_gene': 'GC17P000574', 'score': 0.44}]
chr17 GH17I000497 497201 497601 0.31 [{'connected_gene': 'GC17M000494', 'score': 550.77}, {'connected_gene': 'VPS53', 'score': 32.62}, {'connected_gene': 'RFLNB', 'score': 0.23}]
chr17 GH17I000571 571001 571200 0.2 [{'connected_gene': 'GC17P000574', 'score': 550.77}, {'connected_gene': 'GC17P000572', 'score': 550.77}, {'connected_gene': 'VPS53', 'score': 27.73}, {'connected_gene': 'RFLNB', 'score': 11.41}, {'connected_gene': 'GC17P000565', 'score': 0.44}]
chr17 GH17I000510 510300 513771 0.89 [{'connected_gene': 'PIR40956', 'score': 550.77}, {'connected_gene': 'PIR31034', 'score': 550.77}, {'connected_gene': 'PIR40640', 'score': 550.77}, {'connected_gene': 'VPS53', 'score': 38.53}, {'connected_gene': 'LOC105371430', 'score': 11.62}, {'connected_gene': 'C17orf97', 'score': 11.16}, {'connected_gene': 'RFLNB', 'score': 5.79}, {'connected_gene': 'PIR41639', 'score': 0.77}, {'connected_gene': 'GC17M000511', 'score': 0.77}, {'connected_gene': 'ENSG00000263015', 'score': 0.44}]
chr17 GH17I000381 381844 384804 1.27 [{'connected_gene': 'GC17M000276', 'score': 550.77}, {'connected_gene': 'C17orf97', 'score': 13.77}, {'connected_gene': 'DOC2B', 'score': 12.1}, {'connected_gene': 'RFLNB', 'score': 11.46}, {'connected_gene': 'RPH3AL', 'score': 5.42}]
chr17 GH17I000555 555645 555811 0.27 [{'connected_gene': 'GC17P000555', 'score': 550.77}, {'connected_gene': 'C17orf97', 'score': 12.5}, {'connected_gene': 'RFLNB', 'score': 11.76}, {'connected_gene': 'DOC2B', 'score': 10.18}, {'connected_gene': 'GLOD4', 'score': 9.82}, {'connected_gene': 'GC17P000565', 'score': 0.39}, {'connected_gene': 'VPS53', 'score': 0.1}]
chr17 GH17I000502 502650 503922 1.37 [{'connected_gene': 'ENSG00000263015', 'score': 555.48}, {'connected_gene': 'PIR31675', 'score': 550.77}, {'connected_gene': 'GC17P000501', 'score': 550.77}, {'connected_gene': 'PIR61875', 'score': 550.77}, {'connected_gene': 'RFLNB', 'score': 9.07}, {'connected_gene': 'VPS53', 'score': 5.0}, {'connected_gene': 'MRM3', 'score': 2.31}, {'connected_gene': 'C17orf97', 'score': 1.85}]
chr17 GH17I000570 570370 570598 0.78 [{'connected_gene': 'GC17P000574', 'score': 550.77}, {'connected_gene': 'RFLNB', 'score': 17.63}, {'connected_gene': 'GC17P000565', 'score': 0.77}, {'connected_gene': 'VPS53', 'score': 0.1}]
chr17 GH17I000522 522707 523413 0.43 [{'connected_gene': 'ENSG00000263300', 'score': 550.77}, {'connected_gene': 'RFLNB', 'score': 13.16}, {'connected_gene': 'VPS53', 'score': 7.76}, {'connected_gene': 'GC17P000518', 'score': 0.77}]
chr17 GH17I000524 524385 524961 0.2 [{'connected_gene': 'ENSG00000263300', 'score': 550.77}, {'connected_gene': 'RFLNB', 'score': 13.16}, {'connected_gene': 'GC17P000528', 'score': 0.77}, {'connected_gene': 'VPS53', 'score': 0.08}]
chr17 GH17I000499 499323 501053 0.58 [{'connected_gene': 'GC17P000501', 'score': 550.77}, {'connected_gene': 'RFLNB', 'score': 8.07}, {'connected_gene': 'ENSG00000263015', 'score': 6.07}, {'connected_gene': 'GC17M000494', 'score': 0.77}]
chr17 GH17I000488 488801 493073 0.2 [{'connected_gene': 'GC17M000494', 'score': 0.44}, {'connected_gene': 'RFLNB', 'score': 0.26}]

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