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
ENST00000367771 [[169818771, 169822913], [169823410, 169824105], [169828181, 169828353], [169831753, 169831938], [169833509, 169833649], [169836036, 169836114], [169838068, 169838180], [169839395, 169839498], [169842836, 169842893], [169845118, 169845232], [169847774, 169847960], [169857816, 169858031], [169862928, 169863093]] [[169822853, 169822913], [169823410, 169824105], [169828181, 169828353], [169831753, 169831938], [169833509, 169833649], [169836036, 169836114], [169838068, 169838180], [169839395, 169839498], [169842836, 169842893], [169845118, 169845232], [169847774, 169847960], [169857816, 169857981]]
ENST00000367772 [[169821803, 169822913], [169823410, 169824105], [169824936, 169825098], [169828181, 169828353], [169831753, 169831938], [169833509, 169833649], [169836036, 169836114], [169838068, 169838180], [169839395, 169839498], [169842836, 169842893], [169845118, 169845232], [169847774, 169847960], [169857816, 169858031], [169862928, 169863076]] [[169822853, 169822913], [169823410, 169824105], [169824936, 169825098], [169828181, 169828353], [169831753, 169831938], [169833509, 169833649], [169836036, 169836114], [169838068, 169838180], [169839395, 169839498], [169842836, 169842893], [169845118, 169845232], [169847774, 169847960], [169857816, 169857981]]
ENST00000367770 [[169822214, 169822913], [169823410, 169824105], [169824936, 169825098], [169828181, 169828353], [169831753, 169831938], [169833509, 169833649], [169836036, 169836114], [169838068, 169838180], [169839395, 169839498], [169842836, 169842893], [169845118, 169845232], [169847774, 169847960], [169857816, 169858029]] [[169822853, 169822913], [169823410, 169824105], [169824936, 169825098], [169828181, 169828353], [169831753, 169831938], [169833509, 169833649], [169836036, 169836114], [169838068, 169838180], [169839395, 169839498], [169842836, 169842893], [169845118, 169845232], [169847774, 169847960], [169857816, 169857981]]
ENST00000423670 [[169823651, 169824105], [169828181, 169828353], [169831753, 169831938], [169833509, 169833649], [169836036, 169836114], [169838068, 169838180], [169839395, 169839498], [169842836, 169842893], [169845118, 169845232], [169847774, 169847960], [169857816, 169858031], [169863147, 169863408]] [[169823651, 169824105], [169828181, 169828353], [169831753, 169831938], [169833509, 169833649], [169836036, 169836114], [169838068, 169838180], [169839395, 169839498], [169842836, 169842893], [169845118, 169845232], [169847774, 169847960], [169857816, 169857981]]
ENST00000470238 [[169828259, 169828353], [169831753, 169831938], [169833509, 169833649], [169836036, 169836114], [169838068, 169838269], [169839395, 169839498], [169842836, 169842893], [169845118, 169845232], [169847774, 169847960], [169857816, 169858031], [169862928, 169863093]] None
NM_181093 [[169822214, 169822913], [169823410, 169824105], [169824936, 169825098], [169828181, 169828353], [169831753, 169831938], [169833509, 169833649], [169836036, 169836114], [169838068, 169838180], [169839395, 169839498], [169842836, 169842893], [169845118, 169845232], [169847774, 169847960], [169857816, 169858031], [169862928, 169863100]] [[169822853, 169822913], [169823410, 169824105], [169824936, 169825098], [169828181, 169828353], [169831753, 169831938], [169833509, 169833649], [169836036, 169836114], [169838068, 169838180], [169839395, 169839498], [169842836, 169842893], [169845118, 169845232], [169847774, 169847960], [169857816, 169857981]]
NM_020423 [[169822214, 169822913], [169823410, 169824105], [169828181, 169828353], [169831753, 169831938], [169833509, 169833649], [169836036, 169836114], [169838068, 169838180], [169839395, 169839498], [169842836, 169842893], [169845118, 169845232], [169847774, 169847960], [169857816, 169858031], [169862928, 169863100]] [[169822853, 169822913], [169823410, 169824105], [169828181, 169828353], [169831753, 169831938], [169833509, 169833649], [169836036, 169836114], [169838068, 169838180], [169839395, 169839498], [169842836, 169842893], [169845118, 169845232], [169847774, 169847960], [169857816, 169857981]]
Promoter
Chrom Start End Description
chr1 169863016 169863109 CAGE_peak_1_at_SCYL3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I170530 170530751 170533992 2.08 [{'connected_gene': 'GORAB', 'score': 564.18}, {'connected_gene': 'LOC101928650', 'score': 558.15}, {'connected_gene': 'C1orf112', 'score': 17.14}, {'connected_gene': 'SCYL3', 'score': 16.21}, {'connected_gene': 'PRRC2C', 'score': 16.07}, {'connected_gene': 'METTL18', 'score': 12.01}, {'connected_gene': 'RN7SL333P', 'score': 11.21}, {'connected_gene': 'ENSG00000271811', 'score': 7.03}]
chr1 GH01I169915 169915001 169915400 0.31 [{'connected_gene': 'METTL18', 'score': 34.09}, {'connected_gene': 'SCYL3', 'score': 12.18}, {'connected_gene': 'KIFAP3', 'score': 7.83}, {'connected_gene': 'GC01M169872', 'score': 0.34}, {'connected_gene': 'GC01P169942', 'score': 0.31}]
chr1 GH01I169916 169915740 169916070 0.82 [{'connected_gene': 'METTL18', 'score': 37.99}, {'connected_gene': 'SCYL3', 'score': 12.18}, {'connected_gene': 'GC01M169872', 'score': 0.34}, {'connected_gene': 'GC01P169942', 'score': 0.31}]
chr1 GH01I169688 169688301 169705691 1.4 [{'connected_gene': 'METTL18', 'score': 42.01}, {'connected_gene': 'C1orf112', 'score': 17.9}, {'connected_gene': 'SELP', 'score': 11.57}, {'connected_gene': 'F5', 'score': 11.47}, {'connected_gene': 'SELL', 'score': 10.04}, {'connected_gene': 'SCYL3', 'score': 6.95}, {'connected_gene': 'KIFAP3', 'score': 4.36}, {'connected_gene': 'ENSG00000230704', 'score': 4.33}, {'connected_gene': 'METTL11B', 'score': 2.5}, {'connected_gene': 'GC01M169692', 'score': 0.31}]
chr1 GH01I169793 169793917 169796209 2.07 [{'connected_gene': 'METTL18', 'score': 614.67}, {'connected_gene': 'C1orf112', 'score': 591.83}, {'connected_gene': 'SCYL3', 'score': 48.61}, {'connected_gene': 'RN7SL333P', 'score': 21.37}, {'connected_gene': 'KIFAP3', 'score': 8.5}]
chr1 GH01I169873 169873922 169875085 0.59 [{'connected_gene': 'METTL18', 'score': 44.0}, {'connected_gene': 'KIFAP3', 'score': 8.43}, {'connected_gene': 'RN7SL333P', 'score': 0.39}, {'connected_gene': 'SCYL3', 'score': 0.37}, {'connected_gene': 'GC01M169872', 'score': 0.34}]
chr1 GH01I169779 169779044 169782639 0.94 [{'connected_gene': 'METTL18', 'score': 39.88}, {'connected_gene': 'F5', 'score': 10.76}, {'connected_gene': 'CCDC181', 'score': 9.78}, {'connected_gene': 'SCYL3', 'score': 8.87}, {'connected_gene': 'LOC101928628', 'score': 0.37}, {'connected_gene': 'C1orf112', 'score': 0.13}]
chr1 GH01I169707 169707887 169712789 2.12 [{'connected_gene': 'SELL', 'score': 550.77}, {'connected_gene': 'METTL18', 'score': 40.93}, {'connected_gene': 'RN7SL333P', 'score': 27.73}, {'connected_gene': 'GORAB', 'score': 22.05}, {'connected_gene': 'SCYL3', 'score': 19.78}, {'connected_gene': 'C1orf112', 'score': 15.13}, {'connected_gene': 'GC01M169692', 'score': 0.39}]
chr1 GH01I169889 169889465 169895007 2.59 [{'connected_gene': 'SCYL3', 'score': 574.38}, {'connected_gene': 'METTL18', 'score': 51.72}, {'connected_gene': 'C1orf112', 'score': 25.15}, {'connected_gene': 'KIFAP3', 'score': 17.0}, {'connected_gene': 'BLZF1', 'score': 11.6}, {'connected_gene': 'RN7SL333P', 'score': 11.48}, {'connected_gene': 'GC01M169872', 'score': 0.77}]
chr1 GH01I169089 169089753 169096440 0.69 [{'connected_gene': 'SCYL3', 'score': 14.03}, {'connected_gene': 'C1orf112', 'score': 11.94}, {'connected_gene': 'RN7SL333P', 'score': 11.31}, {'connected_gene': 'METTL18', 'score': 11.03}, {'connected_gene': 'BLZF1', 'score': 10.33}, {'connected_gene': 'SELP', 'score': 10.01}, {'connected_gene': 'LINC00970', 'score': 0.44}, {'connected_gene': 'LOC101928596', 'score': 0.39}]
chr1 GH01I169917 169917737 169917801 0.24 [{'connected_gene': 'SCYL3', 'score': 12.18}, {'connected_gene': 'GC01M169872', 'score': 0.34}, {'connected_gene': 'GC01P169942', 'score': 0.34}]
chr1 GH01I169878 169878965 169879909 0.31 [{'connected_gene': 'KIFAP3', 'score': 7.31}, {'connected_gene': 'SCYL3', 'score': 0.39}, {'connected_gene': 'RN7SL333P', 'score': 0.37}, {'connected_gene': 'GC01M169872', 'score': 0.37}]
chr1 GH01I169584 169584601 169587000 1.6 [{'connected_gene': 'F5', 'score': 556.07}, {'connected_gene': 'SCYL3', 'score': 4.15}, {'connected_gene': 'BLZF1', 'score': 2.72}, {'connected_gene': 'SLC19A2', 'score': 2.61}, {'connected_gene': 'GC01P169565', 'score': 0.34}]
chr1 GH01I169571 169571508 169573157 1.01 [{'connected_gene': 'F5', 'score': 11.09}, {'connected_gene': 'C1orf112', 'score': 9.9}, {'connected_gene': 'METTL18', 'score': 9.8}, {'connected_gene': 'SELE', 'score': 9.66}, {'connected_gene': 'SCYL3', 'score': 1.4}, {'connected_gene': 'GC01P169565', 'score': 0.44}]
chr1 GH01I169874 169873720 169873869 0.57 [{'connected_gene': 'RN7SL333P', 'score': 0.39}, {'connected_gene': 'SCYL3', 'score': 0.34}, {'connected_gene': 'GC01M169872', 'score': 0.34}]
chr1 GH01I169941 169941255 169943938 1.11 [{'connected_gene': 'GC01P169942', 'score': 550.77}, {'connected_gene': 'METTL18', 'score': 47.88}, {'connected_gene': 'C1orf112', 'score': 24.36}, {'connected_gene': 'GORAB', 'score': 12.7}, {'connected_gene': 'SCYL3', 'score': 12.48}, {'connected_gene': 'RN7SL333P', 'score': 10.1}, {'connected_gene': 'GC01M169872', 'score': 0.25}, {'connected_gene': 'KIFAP3', 'score': 0.11}]
chr1 GH01I169721 169721757 169724999 0.43 [{'connected_gene': 'GC01M169692', 'score': 550.77}, {'connected_gene': 'METTL18', 'score': 41.62}, {'connected_gene': 'F5', 'score': 10.78}, {'connected_gene': 'C1orf112', 'score': 10.59}, {'connected_gene': 'SCYL3', 'score': 6.62}, {'connected_gene': 'SELL', 'score': 0.39}, {'connected_gene': 'SELE', 'score': 0.26}]
chr1 GH01I170660 170660990 170671322 2.57 [{'connected_gene': 'ENSG00000271811', 'score': 572.64}, {'connected_gene': 'PRRX1', 'score': 565.98}, {'connected_gene': 'PRRC2C', 'score': 13.02}, {'connected_gene': 'SCYL3', 'score': 11.18}, {'connected_gene': 'RN7SL333P', 'score': 10.47}]
chr1 GH01I169308 169308383 169310319 1.11 [{'connected_gene': 'ENSG00000235575', 'score': 550.77}, {'connected_gene': 'NME7', 'score': 32.1}, {'connected_gene': 'SCYL3', 'score': 22.68}, {'connected_gene': 'RN7SL333P', 'score': 16.76}, {'connected_gene': 'METTL18', 'score': 14.47}, {'connected_gene': 'C1orf112', 'score': 12.02}, {'connected_gene': 'ATP1B1', 'score': 9.81}, {'connected_gene': 'LOC101928596', 'score': 9.81}, {'connected_gene': 'GC01P169297', 'score': 0.37}, {'connected_gene': 'GC01P169294', 'score': 0.37}, {'connected_gene': 'GC01P169296', 'score': 0.37}]
chr1 GH01I169482 169482741 169488400 2.32 [{'connected_gene': 'ENSG00000213062', 'score': 558.34}, {'connected_gene': 'GC01P169486', 'score': 550.77}, {'connected_gene': 'SLC19A2', 'score': 550.77}, {'connected_gene': 'SCYL3', 'score': 24.14}, {'connected_gene': 'METTL18', 'score': 17.93}, {'connected_gene': 'RN7SL333P', 'score': 16.78}, {'connected_gene': 'NME7', 'score': 13.69}, {'connected_gene': 'C1orf112', 'score': 12.07}, {'connected_gene': 'CCDC181', 'score': 10.78}, {'connected_gene': 'PIR61656', 'score': 0.44}]