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
ENST00000515059 [[95679118, 95679219], [95796981, 95797051], [95917190, 95917285], [96025558, 96025718], [96035870, 96035973], [96036835, 96036938], [96044960, 96045057], [96046133, 96046272], [96051012, 96051205], [96052365, 96052663], [96069898, 96070074], [96073793, 96073924], [96075698, 96079599]] [[96025575, 96025718], [96035870, 96035973], [96036835, 96036938], [96044960, 96045057], [96046133, 96046272], [96051012, 96051205], [96052365, 96052663], [96069898, 96070074], [96073793, 96073924], [96075698, 96075824]]
ENST00000506363 [[95916946, 95917285], [96025558, 96025718], [96035870, 96035973], [96036835, 96036938], [96044960, 96044986]] [[96025575, 96025718], [96035870, 96035973], [96036835, 96036938], [96044960, 96044986]]
ENST00000512312 [[95917382, 95917535], [96025558, 96025718], [96035870, 96035973], [96036835, 96036938], [96044960, 96045057], [96046133, 96046272], [96051012, 96051205], [96052365, 96052663], [96069898, 96070074], [96073793, 96073924], [96075698, 96075824]] [[96025575, 96025718], [96035870, 96035973], [96036835, 96036938], [96044960, 96045057], [96046133, 96046272], [96051012, 96051205], [96052365, 96052663], [96069898, 96070074], [96073793, 96073924], [96075698, 96075824]]
ENST00000509540 [[95972829, 95972923], [96025558, 96025718], [96035870, 96035973], [96036835, 96036938], [96044960, 96045057], [96046133, 96046272], [96051012, 96051205], [96052365, 96052663], [96069898, 96070074], [96073793, 96073924], [96075698, 96075968]] [[96025575, 96025718], [96035870, 96035973], [96036835, 96036938], [96044960, 96045057], [96046133, 96046272], [96051012, 96051205], [96052365, 96052663], [96069898, 96070074], [96073793, 96073924], [96075698, 96075824]]
ENST00000440890 [[95972829, 95972923], [96025558, 96025718], [96035870, 96035973], [96036835, 96036938], [96044960, 96045057], [96046133, 96046272], [96051012, 96051205], [96052365, 96052663], [96069898, 96070074], [96073793, 96073924], [96075698, 96075968]] [[95972850, 95972923], [96025558, 96025718], [96035870, 96035973], [96036835, 96036938], [96044960, 96045057], [96046133, 96046272], [96051012, 96051205], [96052365, 96052663], [96069898, 96070074], [96073793, 96073924], [96075698, 96075824]]
ENST00000264568 [[96012641, 96012778], [96025558, 96025718], [96035870, 96035973], [96036835, 96036938], [96044960, 96045057], [96046133, 96046272], [96051012, 96051205], [96052365, 96052663], [96069898, 96070074], [96073793, 96073924], [96075698, 96075968]] [[96025575, 96025718], [96035870, 96035973], [96036835, 96036938], [96044960, 96045057], [96046133, 96046272], [96051012, 96051205], [96052365, 96052663], [96069898, 96070074], [96073793, 96073924], [96075698, 96075824]]
ENST00000394931 [[96025505, 96025718], [96035870, 96035973], [96036835, 96036938], [96044960, 96045057], [96046133, 96046272], [96051012, 96051205], [96052365, 96052663], [96069898, 96070074], [96073793, 96073924], [96075698, 96076167]] [[96025575, 96025718], [96035870, 96035973], [96036835, 96036938], [96044960, 96045057], [96046133, 96046272], [96051012, 96051205], [96052365, 96052663], [96069898, 96070074], [96073793, 96073924], [96075698, 96075824]]
ENST00000502683 [[96012584, 96012778], [96025558, 96025718], [96035870, 96035978], [96036835, 96036940]] [[96025575, 96025718], [96035870, 96035978], [96036835, 96036929]]
NM_001203 [[95679127, 95679219], [95796981, 95797051], [95917190, 95917285], [96025558, 96025718], [96035870, 96035973], [96036835, 96036938], [96044960, 96045057], [96046133, 96046272], [96051012, 96051205], [96052365, 96052663], [96069898, 96070074], [96073793, 96073924], [96075698, 96079601]] [[96025575, 96025718], [96035870, 96035973], [96036835, 96036938], [96044960, 96045057], [96046133, 96046272], [96051012, 96051205], [96052365, 96052663], [96069898, 96070074], [96073793, 96073924], [96075698, 96075824]]
NM_001256792 [[95917382, 95917535], [96025558, 96025718], [96035870, 96035973], [96036835, 96036938], [96044960, 96045057], [96046133, 96046272], [96051012, 96051205], [96052365, 96052663], [96069898, 96070074], [96073793, 96073924], [96075698, 96079601]] [[96025575, 96025718], [96035870, 96035973], [96036835, 96036938], [96044960, 96045057], [96046133, 96046272], [96051012, 96051205], [96052365, 96052663], [96069898, 96070074], [96073793, 96073924], [96075698, 96075824]]
NM_001256793 [[95972829, 95972923], [96025558, 96025718], [96035870, 96035973], [96036835, 96036938], [96044960, 96045057], [96046133, 96046272], [96051012, 96051205], [96052365, 96052663], [96069898, 96070074], [96073793, 96073924], [96075698, 96079601]] [[95972850, 95972923], [96025558, 96025718], [96035870, 96035973], [96036835, 96036938], [96044960, 96045057], [96046133, 96046272], [96051012, 96051205], [96052365, 96052663], [96069898, 96070074], [96073793, 96073924], [96075698, 96075824]]
NM_001256794 [[96012641, 96012778], [96025558, 96025718], [96035870, 96035973], [96036835, 96036938], [96044960, 96045057], [96046133, 96046272], [96051012, 96051205], [96052365, 96052663], [96069898, 96070074], [96073793, 96073924], [96075698, 96079601]] [[96025575, 96025718], [96035870, 96035973], [96036835, 96036938], [96044960, 96045057], [96046133, 96046272], [96051012, 96051205], [96052365, 96052663], [96069898, 96070074], [96073793, 96073924], [96075698, 96075824]]
Promoter
Chrom Start End Description
chr4 95679072 95679125 CAGE_peak_1_at_BMPR1B_5end
chr4 95916986 95917006 CAGE_peak_2_at_BMPR1B_5end
chr4 95917070 95917084 CAGE_peak_9_at_BMPR1B_5end
chr4 95917409 95917421 CAGE_peak_11_at_BMPR1B_5end
chr4 95917459 95917472 CAGE_peak_8_at_BMPR1B_5end
chr4 95972775 95972786 CAGE_peak_16_at_BMPR1B_5end
chr4 95972809 95972820 CAGE_peak_13_at_BMPR1B_5end
chr4 95972822 95972844 CAGE_peak_3_at_BMPR1B_5end
chr4 96012601 96012612 CAGE_peak_17_at_BMPR1B_5end
chr4 96012614 96012632 CAGE_peak_14_at_BMPR1B_5end
chr4 96012683 96012692 CAGE_peak_21_at_BMPR1B_5end
chr4 96012706 96012728 CAGE_peak_10_at_BMPR1B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I095157 95157488 95165720 0.49 [{'connected_gene': 'BMPR1B', 'score': 8.96}, {'connected_gene': 'GC04M095163', 'score': 0.44}, {'connected_gene': 'GC04P094910', 'score': 0.07}, {'connected_gene': 'UNC5C', 'score': 0.05}]
chr4 GH04I095199 95199809 95203442 0.31 [{'connected_gene': 'BMPR1B', 'score': 4.93}, {'connected_gene': 'GC04P095189', 'score': 0.39}, {'connected_gene': 'PIR50489', 'score': 0.39}, {'connected_gene': 'GC04M095360', 'score': 0.1}, {'connected_gene': 'UNC5C', 'score': 0.05}]
chr4 GH04I095180 95180999 95182336 0.82 [{'connected_gene': 'BMPR1B', 'score': 5.14}, {'connected_gene': 'GC04P095189', 'score': 0.44}, {'connected_gene': 'PIR50489', 'score': 0.44}, {'connected_gene': 'GC04P095168', 'score': 0.39}, {'connected_gene': 'UNC5C', 'score': 0.05}]
chr4 GH04I095177 95177009 95179334 0.38 [{'connected_gene': 'BMPR1B', 'score': 9.6}, {'connected_gene': 'GC04P095189', 'score': 0.44}, {'connected_gene': 'PIR50489', 'score': 0.44}, {'connected_gene': 'GC04P095168', 'score': 0.44}, {'connected_gene': 'UNC5C', 'score': 0.05}]
chr4 GH04I095179 95179789 95179976 0.44 [{'connected_gene': 'BMPR1B', 'score': 1.61}, {'connected_gene': 'GC04P095189', 'score': 0.44}, {'connected_gene': 'PIR50489', 'score': 0.44}, {'connected_gene': 'GC04P095168', 'score': 0.39}, {'connected_gene': 'UNC5C', 'score': 0.05}]
chr4 GH04I095551 95551303 95551887 0.2 [{'connected_gene': 'BMPR1B', 'score': 3.98}, {'connected_gene': 'LOC105377335', 'score': 0.77}, {'connected_gene': 'LOC105377337', 'score': 0.77}, {'connected_gene': 'UNC5C', 'score': 0.77}]
chr4 GH04I095079 95079491 95082015 0.2 [{'connected_gene': 'BMPR1B', 'score': 16.54}, {'connected_gene': 'BMPR1B-AS1', 'score': 10.6}, {'connected_gene': 'GC04M095163', 'score': 0.17}, {'connected_gene': 'GC04P094910', 'score': 0.09}]
chr4 GH04I094994 94994945 94997229 1.64 [{'connected_gene': 'BMPR1B', 'score': 571.31}, {'connected_gene': 'GC04P094910', 'score': 0.17}, {'connected_gene': 'GC04M095163', 'score': 0.09}]
chr4 GH04I094948 94947970 94948119 0.38 [{'connected_gene': 'BMPR1B', 'score': 5.14}, {'connected_gene': 'GC04P094910', 'score': 0.28}, {'connected_gene': 'GC04M095163', 'score': 0.08}]
chr4 GH04I094865 94865903 94865962 0.5 [{'connected_gene': 'BMPR1B', 'score': 550.14}, {'connected_gene': 'GC04P094910', 'score': 0.26}, {'connected_gene': 'GC04M094777', 'score': 0.22}]
chr4 GH04I095051 95051401 95051800 1.07 [{'connected_gene': 'BMPR1B', 'score': 550.06}, {'connected_gene': 'GC04M095163', 'score': 0.13}, {'connected_gene': 'GC04P094910', 'score': 0.11}]
chr4 GH04I095044 95044320 95045115 0.67 [{'connected_gene': 'BMPR1B', 'score': 6.44}, {'connected_gene': 'GC04M095163', 'score': 0.13}, {'connected_gene': 'GC04P094910', 'score': 0.12}]
chr4 GH04I095067 95067308 95068962 0.31 [{'connected_gene': 'BMPR1B', 'score': 9.06}, {'connected_gene': 'GC04M095163', 'score': 0.15}, {'connected_gene': 'GC04P094910', 'score': 0.1}]
chr4 GH04I095083 95082141 95082906 0.2 [{'connected_gene': 'BMPR1B', 'score': 8.58}, {'connected_gene': 'GC04M095163', 'score': 0.17}, {'connected_gene': 'GC04P094910', 'score': 0.09}]
chr4 GH04I095065 95065581 95067188 0.2 [{'connected_gene': 'BMPR1B', 'score': 6.26}, {'connected_gene': 'GC04M095163', 'score': 0.15}, {'connected_gene': 'GC04P094910', 'score': 0.1}]
chr4 GH04I095054 95054680 95056142 0.2 [{'connected_gene': 'BMPR1B', 'score': 9.13}, {'connected_gene': 'GC04M095163', 'score': 0.14}, {'connected_gene': 'GC04P094910', 'score': 0.11}]
chr4 GH04I095128 95128929 95131412 0.96 [{'connected_gene': 'BMPR1B', 'score': 7.37}, {'connected_gene': 'GC04M095163', 'score': 0.28}, {'connected_gene': 'GC04P094910', 'score': 0.08}]
chr4 GH04I095155 95155800 95156919 0.97 [{'connected_gene': 'BMPR1B', 'score': 8.18}, {'connected_gene': 'GC04M095163', 'score': 0.39}, {'connected_gene': 'GC04P094910', 'score': 0.07}]
chr4 GH04I095059 95059683 95065143 0.38 [{'connected_gene': 'BMPR1B', 'score': 9.08}, {'connected_gene': 'GC04M095163', 'score': 0.14}, {'connected_gene': 'GC04P094910', 'score': 0.1}]
chr4 GH04I095107 95107750 95107899 0.49 [{'connected_gene': 'BMPR1B', 'score': 6.9}, {'connected_gene': 'GC04M095163', 'score': 0.22}, {'connected_gene': 'GC04P094910', 'score': 0.08}]
chr4 GH04I095092 95091407 95091466 0.81 [{'connected_gene': 'BMPR1B', 'score': 550.06}, {'connected_gene': 'GC04M095163', 'score': 0.18}, {'connected_gene': 'GC04P094910', 'score': 0.09}]
chr4 GH04I095082 95082984 95084067 0.2 [{'connected_gene': 'BMPR1B', 'score': 8.59}, {'connected_gene': 'GC04M095163', 'score': 0.18}, {'connected_gene': 'GC04P094910', 'score': 0.09}]
chr4 GH04I094640 94640669 94643014 0.77 [{'connected_gene': 'PDLIM5', 'score': 12.89}, {'connected_gene': 'BMPR1B-AS1', 'score': 10.47}, {'connected_gene': 'BMPR1B', 'score': 10.47}, {'connected_gene': 'ENSG00000249951', 'score': 0.29}, {'connected_gene': 'PIR44106', 'score': 0.22}]
chr4 GH04I094757 94757401 94759031 1.87 [{'connected_gene': 'BMPR1B-AS1', 'score': 550.77}, {'connected_gene': 'BMPR1B', 'score': 550.77}, {'connected_gene': 'GC04P094745', 'score': 0.39}, {'connected_gene': 'GC04M094777', 'score': 0.23}]
chr4 GH04I095168 95168498 95171242 0.2 [{'connected_gene': 'GC04P095168', 'score': 550.77}, {'connected_gene': 'BMPR1B', 'score': 7.97}, {'connected_gene': 'GC04P095189', 'score': 0.37}, {'connected_gene': 'PIR50489', 'score': 0.37}, {'connected_gene': 'UNC5C', 'score': 0.05}]
chr4 GH04I095091 95091049 95091099 0.58 [{'connected_gene': 'GC04M095163', 'score': 0.18}, {'connected_gene': 'GC04P094910', 'score': 0.09}, {'connected_gene': 'BMPR1B', 'score': 0.06}]
chr4 GH04I095086 95086570 95086859 0.79 [{'connected_gene': 'GC04M095163', 'score': 0.18}, {'connected_gene': 'GC04P094910', 'score': 0.1}, {'connected_gene': 'BMPR1B', 'score': 0.05}]
chr4 GH04I095085 95085570 95085719 0.66 [{'connected_gene': 'GC04M095163', 'score': 0.18}, {'connected_gene': 'GC04P094910', 'score': 0.1}, {'connected_gene': 'BMPR1B', 'score': 0.05}]
chr4 GH04I094827 94827043 94829546 1 [{'connected_gene': 'GC04M094777', 'score': 0.37}, {'connected_gene': 'BMPR1B', 'score': 0.19}, {'connected_gene': 'GC04P094910', 'score': 0.18}]
chr4 GH04I094947 94947710 94947859 0.38 [{'connected_gene': 'GC04P094910', 'score': 0.28}, {'connected_gene': 'BMPR1B', 'score': 0.09}, {'connected_gene': 'GC04M095163', 'score': 0.08}]
chr4 GH04I095084 95084650 95084919 0.72 [{'connected_gene': 'GC04M095163', 'score': 0.18}, {'connected_gene': 'GC04P094910', 'score': 0.09}, {'connected_gene': 'BMPR1B', 'score': 0.05}]
chr4 GH04I094934 94934601 94934800 0.31 [{'connected_gene': 'GC04P094910', 'score': 0.34}, {'connected_gene': 'BMPR1B', 'score': 0.1}, {'connected_gene': 'GC04M095163', 'score': 0.07}]

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