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
ENST00000483095 [[182615238, 182616052], [182617271, 182617438], [182635103, 182635168], [182636006, 182636108], [182638758, 182638887], [182640791, 182640865], [182640983, 182641064]] [[182615869, 182616052], [182617271, 182617438], [182635103, 182635168], [182636006, 182636108], [182638758, 182638784]]
ENST00000258302 [[182615791, 182616052], [182617271, 182617438], [182635103, 182635168], [182636006, 182636108], [182640791, 182640865], [182641953, 182642049]] [[182615869, 182616052], [182617271, 182617438], [182635103, 182635168], [182636006, 182636108], [182640791, 182640865], [182641953, 182641959]]
ENST00000367557 [[182615820, 182616052], [182617271, 182617438], [182635103, 182635168], [182636006, 182636108], [182638758, 182638887], [182640791, 182640865], [182641953, 182642043]] [[182615869, 182616052], [182617271, 182617438], [182635103, 182635168], [182636006, 182636108], [182638758, 182638784]]
ENST00000367556 [[182615869, 182616052], [182617271, 182617438], [182635103, 182635168], [182636006, 182636108], [182638758, 182638887], [182640791, 182640988]] [[182615869, 182616052], [182617271, 182617438], [182635103, 182635168], [182636006, 182636108], [182638758, 182638784]]
ENST00000491420 [[182627503, 182627800], [182635103, 182635168], [182636006, 182636108], [182638758, 182638887], [182640791, 182640865], [182641953, 182642067]] None
ENST00000508450 [[182635125, 182635168], [182636006, 182636108], [182638758, 182638887], [182640791, 182640865], [182641171, 182641386]] [[182635125, 182635168], [182636006, 182636108], [182638758, 182638784]]
ENST00000515211 [[182636080, 182636108], [182638758, 182638887], [182640791, 182640865], [182641953, 182642067], [182653490, 182653711]] None
NM_001102450 [[182610948, 182616052], [182617271, 182617438], [182635103, 182635168], [182636006, 182636108], [182638758, 182638887], [182640791, 182640865], [182641953, 182642067]] [[182615869, 182616052], [182617271, 182617438], [182635103, 182635168], [182636006, 182636108], [182638758, 182638784]]
NM_033345 [[182610948, 182616052], [182617271, 182617438], [182635103, 182635168], [182636006, 182636108], [182640791, 182640865], [182641953, 182642067]] [[182615869, 182616052], [182617271, 182617438], [182635103, 182635168], [182636006, 182636108], [182640791, 182640865], [182641953, 182641959]]
Promoter
Chrom Start End Description
chr1 182640923 182640935 CAGE_peak_6_at_RGS8_5end
chr1 182641015 182641033 CAGE_peak_3_at_RGS8_5end
chr1 182641037 182641068 CAGE_peak_2_at_RGS8_5end
chr1 182641367 182641378 CAGE_peak_7_at_RGS8_5end
chr1 182641988 182641999 CAGE_peak_9_at_RGS8_5end
chr1 182642017 182642048 CAGE_peak_4_at_RGS8_5end
chr1 182653685 182653730 CAGE_peak_1_at_RGS8_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I182672 182672847 182672906 0.68 [{'connected_gene': 'RGS8', 'score': 550.18}, {'connected_gene': 'RGS16', 'score': 10.68}, {'connected_gene': 'GC01M182641', 'score': 0.31}, {'connected_gene': 'LINC01688', 'score': 0.28}, {'connected_gene': 'GC01P182625', 'score': 0.25}]
chr1 GH01I182671 182671914 182671973 0.61 [{'connected_gene': 'RGS8', 'score': 550.18}, {'connected_gene': 'RGS16', 'score': 10.68}, {'connected_gene': 'GC01M182641', 'score': 0.31}, {'connected_gene': 'LINC01688', 'score': 0.26}, {'connected_gene': 'GC01P182625', 'score': 0.25}]
chr1 GH01I182753 182752446 182752595 0.2 [{'connected_gene': 'RGS8', 'score': 550.77}, {'connected_gene': 'RGS16', 'score': 11.1}, {'connected_gene': 'LOC100421471', 'score': 0.37}]
chr1 GH01I182752 182752047 182752355 0.2 [{'connected_gene': 'RGS8', 'score': 550.77}, {'connected_gene': 'RGS16', 'score': 11.1}, {'connected_gene': 'LOC100421471', 'score': 0.37}]
chr1 GH01I182651 182651548 182652025 0.2 [{'connected_gene': 'RGS8', 'score': 11.09}, {'connected_gene': 'GC01M182641', 'score': 0.44}, {'connected_gene': 'GC01P182625', 'score': 0.31}, {'connected_gene': 'LINC01688', 'score': 0.21}]
chr1 GH01I182662 182662666 182662835 0.38 [{'connected_gene': 'RGS8', 'score': 11.04}, {'connected_gene': 'GC01M182641', 'score': 0.37}, {'connected_gene': 'GC01P182625', 'score': 0.28}, {'connected_gene': 'LINC01688', 'score': 0.25}]
chr1 GH01I182633 182633367 182634745 1.11 [{'connected_gene': 'RGS16', 'score': 12.21}, {'connected_gene': 'RGS8', 'score': 11.21}, {'connected_gene': 'GC01M182641', 'score': 0.44}, {'connected_gene': 'GC01P182625', 'score': 0.44}]
chr1 GH01I182632 182632601 182632800 1.04 [{'connected_gene': 'RGS16', 'score': 11.68}, {'connected_gene': 'RGS8', 'score': 11.18}, {'connected_gene': 'GC01P182625', 'score': 0.44}, {'connected_gene': 'GC01M182641', 'score': 0.39}]
chr1 GH01I182674 182674061 182677043 0.71 [{'connected_gene': 'RGS16', 'score': 12.35}, {'connected_gene': 'GC01M182641', 'score': 0.29}, {'connected_gene': 'LINC01688', 'score': 0.28}, {'connected_gene': 'GC01P182625', 'score': 0.25}, {'connected_gene': 'RGS8', 'score': 0.18}]
chr1 GH01I182686 182686935 182689034 0.62 [{'connected_gene': 'RGS16', 'score': 10.37}, {'connected_gene': 'LINC01688', 'score': 7.38}, {'connected_gene': 'GC01M182641', 'score': 0.26}, {'connected_gene': 'RGS8', 'score': 0.2}]
chr1 GH01I182738 182738756 182740245 0.71 [{'connected_gene': 'RGS16', 'score': 10.54}, {'connected_gene': 'LOC100421471', 'score': 0.44}, {'connected_gene': 'RGS8', 'score': 0.39}]
chr1 GH01I182781 182781594 182782379 0.88 [{'connected_gene': 'DHX9', 'score': 11.02}, {'connected_gene': 'NPL', 'score': 0.44}, {'connected_gene': 'RGS8', 'score': 0.31}]
chr1 GH01I182782 182782386 182782595 0.85 [{'connected_gene': 'DHX9', 'score': 11.02}, {'connected_gene': 'NPL', 'score': 0.44}, {'connected_gene': 'RGS8', 'score': 0.31}]
chr1 GH01I182713 182713787 182713873 0.44 [{'connected_gene': 'LINC01688', 'score': 550.77}, {'connected_gene': 'RGS8', 'score': 11.36}, {'connected_gene': 'RGS16', 'score': 10.93}, {'connected_gene': 'DHX9', 'score': 1.39}, {'connected_gene': 'LOC100421471', 'score': 0.37}]
chr1 GH01I182698 182698990 182700697 0.74 [{'connected_gene': 'LINC01688', 'score': 0.39}, {'connected_gene': 'RGS8', 'score': 0.23}, {'connected_gene': 'GC01M182641', 'score': 0.22}]
chr1 GH01I182643 182643826 182643955 0.38 [{'connected_gene': 'GC01M182641', 'score': 550.77}, {'connected_gene': 'RGS16', 'score': 10.98}, {'connected_gene': 'RGS8', 'score': 10.72}, {'connected_gene': 'GC01P182625', 'score': 0.37}, {'connected_gene': 'LINC01688', 'score': 0.2}]
chr1 GH01I182677 182677546 182677695 0.69 [{'connected_gene': 'GC01M182641', 'score': 0.29}, {'connected_gene': 'LINC01688', 'score': 0.28}, {'connected_gene': 'GC01P182625', 'score': 0.23}, {'connected_gene': 'RGS8', 'score': 0.18}]