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
ENST00000360127 [[260117, 260437], [262938, 264457]] [[260133, 260437], [262938, 263906]]
ENST00000571106 [[260127, 260437], [270462, 270888]] [[260133, 260437], [270462, 270620]]
ENST00000491373 [[260151, 260437], [262938, 263221], [263787, 264096]] [[260151, 260437], [262938, 263221], [263787, 263848]]
ENST00000575151 [[263885, 264144], [273270, 273510]] [[263885, 263906]]
NM_001013672 [[260117, 260437], [262938, 264457]] [[260133, 260437], [262938, 263906]]
Promoter
Chrom Start End Description
chr17 260097 260196 CAGE_peak_1_at_C17orf97_5end
chr17 262931 262937 CAGE_peak_2_at_C17orf97_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I000385 385003 386780 1.76 [{'connected_gene': 'RPH3AL', 'score': 555.49}, {'connected_gene': 'C17orf97', 'score': 13.99}, {'connected_gene': 'DOC2B', 'score': 1.77}, {'connected_gene': 'GC17M000276', 'score': 0.77}]
chr17 GH17I000393 393564 394641 1.1 [{'connected_gene': 'RPH3AL', 'score': 0.44}, {'connected_gene': 'C17orf97', 'score': 0.37}]
chr17 GH17I000394 394801 395000 0.2 [{'connected_gene': 'RPH3AL', 'score': 0.44}, {'connected_gene': 'C17orf97', 'score': 0.37}]
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 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 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 GH17I000372 372553 373435 0.38 [{'connected_gene': 'C17orf97', 'score': 20.2}, {'connected_gene': 'DOC2B', 'score': 11.53}, {'connected_gene': 'RPH3AL', 'score': 5.51}, {'connected_gene': 'GC17M000276', 'score': 0.44}, {'connected_gene': 'ENSG00000262558', 'score': 0.37}]
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 GH17I000409 409219 414574 1.97 [{'connected_gene': 'C17orf97', 'score': 650.65}, {'connected_gene': 'GC17P000416', 'score': 0.77}, {'connected_gene': 'LOC105371430', 'score': 0.44}]
chr17 GH17I001086 1086771 1088861 1.32 [{'connected_gene': 'ABR', 'score': 7.26}, {'connected_gene': 'C17orf97', 'score': 6.38}, {'connected_gene': 'PITPNA-AS1', 'score': 5.28}, {'connected_gene': 'ENSG00000278794', 'score': 0.39}, {'connected_gene': 'MIR3183', 'score': 0.2}]
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 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 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 GH17I000415 415209 417742 0.85 [{'connected_gene': 'GC17P000416', 'score': 550.77}, {'connected_gene': 'LOC105371430', 'score': 550.77}, {'connected_gene': 'C17orf97', 'score': 50.8}]

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