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
ENST00000358781 [[58619672, 58620095], [58622020, 58622147], [58622867, 58622952], [58625853, 58625904], [58629388, 58629447], [58631235, 58631353], [58635041, 58635065], [58639400, 58639508], [58641277, 58641328], [58652302, 58652575]] [[58620005, 58620095], [58622020, 58622147], [58622867, 58622952], [58625853, 58625904], [58629388, 58629447], [58631235, 58631353], [58635041, 58635065], [58639400, 58639508], [58641277, 58641290]]
ENST00000483787 [[58622868, 58622952], [58625853, 58625904], [58629388, 58629447], [58631235, 58631353], [58635041, 58635062], [58639400, 58639508], [58641277, 58641328], [58643248, 58643493]] [[58622868, 58622952], [58625853, 58625904], [58629388, 58629447], [58631235, 58631353], [58635041, 58635062], [58639400, 58639508], [58641277, 58641290]]
ENST00000489857 [[58622878, 58622952], [58625853, 58625904], [58629388, 58629447], [58631235, 58631353], [58635041, 58635062], [58641277, 58641328], [58652302, 58652561]] [[58622878, 58622952], [58625853, 58625904], [58629388, 58629447], [58631235, 58631353], [58635041, 58635062], [58641277, 58641290]]
ENST00000482623 [[58622881, 58622952], [58625853, 58625904], [58629388, 58629447], [58631235, 58631353], [58635041, 58635141], [58641277, 58641328], [58643248, 58643423]] [[58631346, 58631353], [58635041, 58635141], [58641277, 58641290]]
ENST00000498347 [[58629402, 58629447], [58631235, 58631353], [58635041, 58635065], [58639400, 58639508], [58641277, 58641328], [58643248, 58643298], [58643422, 58643475]] [[58629402, 58629447], [58631235, 58631353], [58635041, 58635065], [58639400, 58639508], [58641277, 58641290]]
NM_138805 [[58619669, 58620095], [58622020, 58622147], [58622867, 58622952], [58625853, 58625904], [58629388, 58629447], [58631235, 58631353], [58635041, 58635065], [58639400, 58639508], [58641277, 58641328], [58652302, 58652561]] [[58620005, 58620095], [58622020, 58622147], [58622867, 58622952], [58625853, 58625904], [58629388, 58629447], [58631235, 58631353], [58635041, 58635065], [58639400, 58639508], [58641277, 58641290]]
Promoter
Chrom Start End Description
chr3 58643295 58643304 CAGE_peak_8_at_FAM3D_5end
chr3 58643458 58643478 CAGE_peak_4_at_FAM3D_5end
chr3 58643483 58643499 CAGE_peak_1_at_FAM3D_5end
chr3 58643515 58643526 CAGE_peak_5_at_FAM3D_5end
chr3 58643556 58643567 CAGE_peak_7_at_FAM3D_5end
chr3 58652465 58652479 CAGE_peak_6_at_FAM3D_5end
chr3 58652490 58652519 CAGE_peak_2_at_FAM3D_5end
chr3 58652523 58652570 CAGE_peak_3_at_FAM3D_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I058556 58556895 58558707 0.65 [{'connected_gene': 'ACOX2', 'score': 17.64}, {'connected_gene': 'FAM107A', 'score': 12.05}, {'connected_gene': 'FAM3D-AS1', 'score': 11.5}, {'connected_gene': 'HTD2', 'score': 10.25}, {'connected_gene': 'RPP14', 'score': 10.25}, {'connected_gene': 'FAM3D', 'score': 10.04}, {'connected_gene': 'ENSG00000243384', 'score': 0.39}]
chr3 GH03I058560 58560601 58562723 0.85 [{'connected_gene': 'ACOX2', 'score': 17.69}, {'connected_gene': 'FAM3D-AS1', 'score': 11.51}, {'connected_gene': 'FAM107A', 'score': 11.29}, {'connected_gene': 'HTD2', 'score': 10.25}, {'connected_gene': 'RPP14', 'score': 10.25}, {'connected_gene': 'FAM3D', 'score': 9.63}, {'connected_gene': 'ENSG00000243384', 'score': 0.39}]
chr3 GH03I058563 58563794 58563943 0.31 [{'connected_gene': 'ACOX2', 'score': 18.26}, {'connected_gene': 'FAM3D-AS1', 'score': 11.51}, {'connected_gene': 'FAM107A', 'score': 11.3}, {'connected_gene': 'HTD2', 'score': 10.25}, {'connected_gene': 'RPP14', 'score': 10.25}, {'connected_gene': 'FAM3D', 'score': 9.63}, {'connected_gene': 'ENSG00000243384', 'score': 0.44}]
chr3 GH03I058679 58679541 58681174 0.51 [{'connected_gene': 'PXK', 'score': 4.8}, {'connected_gene': 'FAM3D', 'score': 0.39}, {'connected_gene': 'LOC105377109', 'score': 0.37}, {'connected_gene': 'GC03P058659', 'score': 0.34}, {'connected_gene': 'C3orf67-AS1', 'score': 0.11}]
chr3 GH03I058682 58682248 58684492 0.6 [{'connected_gene': 'PXK', 'score': 5.02}, {'connected_gene': 'FAM3D', 'score': 0.37}, {'connected_gene': 'LOC105377109', 'score': 0.34}, {'connected_gene': 'GC03P058659', 'score': 0.34}, {'connected_gene': 'C3orf67-AS1', 'score': 0.11}]
chr3 GH03I058688 58688401 58689363 0.4 [{'connected_gene': 'FAM3D', 'score': 11.88}, {'connected_gene': 'PXK', 'score': 6.14}, {'connected_gene': 'LOC105377109', 'score': 0.31}, {'connected_gene': 'GC03P058659', 'score': 0.31}, {'connected_gene': 'C3orf67-AS1', 'score': 0.12}]
chr3 GH03I058666 58666241 58669342 1.28 [{'connected_gene': 'FAM3D', 'score': 557.43}, {'connected_gene': 'LOC105377109', 'score': 0.77}, {'connected_gene': 'GC03P058659', 'score': 0.44}, {'connected_gene': 'C3orf67-AS1', 'score': 0.1}]
chr3 GH03I058664 58664331 58665879 0.31 [{'connected_gene': 'FAM3D', 'score': 557.49}, {'connected_gene': 'LOC105377109', 'score': 550.77}, {'connected_gene': 'GC03P058659', 'score': 0.44}]
chr3 GH03I058641 58641821 58643645 0.2 [{'connected_gene': 'FAM3D', 'score': 12.49}, {'connected_gene': 'FAM3D-AS1', 'score': 11.28}, {'connected_gene': 'ENSG00000243384', 'score': 10.72}, {'connected_gene': 'C3orf67-AS1', 'score': 10.11}, {'connected_gene': 'FAM107A', 'score': 7.63}, {'connected_gene': 'GC03M058625', 'score': 0.44}]
chr3 GH03I058693 58693853 58694486 0.74 [{'connected_gene': 'FAM3D', 'score': 11.75}, {'connected_gene': 'C3orf67-AS1', 'score': 10.48}, {'connected_gene': 'FAM107A', 'score': 10.35}, {'connected_gene': 'PXK', 'score': 5.55}, {'connected_gene': 'LOC105377109', 'score': 0.29}, {'connected_gene': 'GC03P058659', 'score': 0.29}]
chr3 GH03I058695 58695934 58696617 0.4 [{'connected_gene': 'FAM3D', 'score': 11.75}, {'connected_gene': 'C3orf67-AS1', 'score': 10.49}, {'connected_gene': 'FAM107A', 'score': 10.35}, {'connected_gene': 'LOC105377109', 'score': 0.29}, {'connected_gene': 'GC03P058659', 'score': 0.28}]
chr3 GH03I058656 58656436 58657019 0.2 [{'connected_gene': 'FAM3D', 'score': 6.93}, {'connected_gene': 'GC03M058625', 'score': 0.77}, {'connected_gene': 'GC03P058659', 'score': 0.77}]
chr3 GH03I058653 58653656 58654953 0.31 [{'connected_gene': 'FAM107A', 'score': 7.38}, {'connected_gene': 'GC03M058625', 'score': 0.77}, {'connected_gene': 'GC03P058659', 'score': 0.44}, {'connected_gene': 'FAM3D', 'score': 0.39}]
chr3 GH03I058647 58647351 58648632 0.69 [{'connected_gene': 'FAM107A', 'score': 18.62}, {'connected_gene': 'FAM3D-AS1', 'score': 11.29}, {'connected_gene': 'KCTD6', 'score': 10.48}, {'connected_gene': 'GC03M058625', 'score': 0.77}, {'connected_gene': 'FAM3D', 'score': 0.37}]
chr3 GH03I058649 58649434 58650292 0.43 [{'connected_gene': 'FAM107A', 'score': 18.28}, {'connected_gene': 'FAM3D-AS1', 'score': 11.29}, {'connected_gene': 'GC03M058625', 'score': 0.77}, {'connected_gene': 'FAM3D', 'score': 0.37}]
chr3 GH03I058660 58660582 58663021 0.31 [{'connected_gene': 'LOC105377109', 'score': 550.77}, {'connected_gene': 'FAM3D', 'score': 6.74}, {'connected_gene': 'PXK', 'score': 5.92}, {'connected_gene': 'GC03P058659', 'score': 0.77}]
chr3 GH03I058663 58663616 58664146 0.2 [{'connected_gene': 'LOC105377109', 'score': 550.77}, {'connected_gene': 'FAM3D', 'score': 0.77}, {'connected_gene': 'GC03P058659', 'score': 0.77}]
chr3 GH03I058669 58669594 58673396 0.38 [{'connected_gene': 'FAM3D-AS1', 'score': 10.35}, {'connected_gene': 'FAM3D', 'score': 6.98}, {'connected_gene': 'PXK', 'score': 5.3}, {'connected_gene': 'FAM107A', 'score': 4.86}, {'connected_gene': 'LOC105377109', 'score': 0.44}, {'connected_gene': 'GC03P058659', 'score': 0.39}, {'connected_gene': 'C3orf67-AS1', 'score': 0.1}]
chr3 GH03I058640 58640580 58641179 0.69 [{'connected_gene': 'FAM3D-AS1', 'score': 10.85}, {'connected_gene': 'FAM3D', 'score': 10.76}, {'connected_gene': 'ENSG00000243384', 'score': 10.72}, {'connected_gene': 'C3orf67-AS1', 'score': 9.72}, {'connected_gene': 'GC03M058625', 'score': 0.39}, {'connected_gene': 'FAM107A', 'score': 0.39}]
chr3 GH03I058657 58657455 58658273 0.9 [{'connected_gene': 'GC03P058659', 'score': 550.77}, {'connected_gene': 'FAM3D', 'score': 550.44}, {'connected_gene': 'GC03M058625', 'score': 0.44}]
chr3 GH03I058658 58658734 58659801 0.54 [{'connected_gene': 'GC03P058659', 'score': 550.77}, {'connected_gene': 'FAM3D', 'score': 0.44}, {'connected_gene': 'GC03M058625', 'score': 0.44}]
chr3 GH03I058659 58659834 58660515 0.31 [{'connected_gene': 'GC03P058659', 'score': 550.77}, {'connected_gene': 'LOC105377109', 'score': 0.77}, {'connected_gene': 'FAM3D', 'score': 0.44}]