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
ENST00000303469 [[169761669, 169763038], [169763773, 169763830]] [[169761717, 169762836]]
ENST00000310392 [[169761669, 169763038], [169763955, 169764107]] [[169761717, 169762836]]
ENST00000454472 [[169762282, 169763038], [169764010, 169764104]] [[169762282, 169762836]]
NM_001320201 [[169761669, 169763038], [169763773, 169763830]] [[169761717, 169762836]]
NM_033418 [[169761669, 169763038], [169763955, 169764117]] [[169761717, 169762836]]
NM_001320199 [[169761669, 169763038], [169764010, 169764117]] [[169761717, 169762836]]
Promoter
Chrom Start End Description
chr1 169763996 169764011 CAGE_peak_4_at_METTL18_5end
chr1 169764026 169764077 CAGE_peak_1_at_METTL18_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I170493 170493980 170495100 0.69 [{'connected_gene': 'GORAB', 'score': 23.31}, {'connected_gene': 'RN7SL333P', 'score': 13.52}, {'connected_gene': 'METTL18', 'score': 13.44}, {'connected_gene': 'LOC101928650', 'score': 11.97}, {'connected_gene': 'PRRC2C', 'score': 11.45}, {'connected_gene': 'GC01P170411', 'score': 0.18}]
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 GH01I169679 169679724 169682568 0.79 [{'connected_gene': 'METTL18', 'score': 23.71}, {'connected_gene': 'SELP', 'score': 10.78}, {'connected_gene': 'SELL', 'score': 5.67}, {'connected_gene': 'C1orf112', 'score': 0.37}]
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 GH01I169741 169741415 169741429 0.46 [{'connected_gene': 'METTL18', 'score': 11.08}, {'connected_gene': 'C1orf112', 'score': 11.03}, {'connected_gene': 'SELP', 'score': 9.99}, {'connected_gene': 'GC01M169692', 'score': 0.37}, {'connected_gene': 'ENSG00000230704', 'score': 0.34}, {'connected_gene': 'SELE', 'score': 0.34}]
chr1 GH01I169744 169744868 169746386 0.85 [{'connected_gene': 'METTL18', 'score': 45.29}, {'connected_gene': 'C1orf112', 'score': 11.03}, {'connected_gene': 'SELP', 'score': 9.98}, {'connected_gene': 'ENSG00000230704', 'score': 0.37}, {'connected_gene': 'SELE', 'score': 0.37}, {'connected_gene': 'GC01M169692', 'score': 0.34}]
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 GH01I169908 169908293 169909791 0.57 [{'connected_gene': 'METTL18', 'score': 40.09}, {'connected_gene': 'PRRX1', 'score': 9.23}, {'connected_gene': 'KIFAP3', 'score': 9.01}, {'connected_gene': 'GC01M169872', 'score': 0.39}, {'connected_gene': 'GC01P169942', 'score': 0.29}]
chr1 GH01I169998 169998147 170000381 0.49 [{'connected_gene': 'METTL18', 'score': 37.55}, {'connected_gene': 'KIFAP3', 'score': 25.35}, {'connected_gene': 'ENSG00000232959', 'score': 11.98}, {'connected_gene': 'MRPS10P1', 'score': 0.44}, {'connected_gene': 'GC01P169974', 'score': 0.34}, {'connected_gene': 'GC01M170021', 'score': 0.34}]
chr1 GH01I170126 170126483 170127449 0.6 [{'connected_gene': 'METTL18', 'score': 13.61}, {'connected_gene': 'KIFAP3', 'score': 11.22}, {'connected_gene': 'SIGLEC30P', 'score': 0.39}, {'connected_gene': 'METTL11B', 'score': 0.37}]
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 GH01I170062 170062651 170063756 0.76 [{'connected_gene': 'METTL18', 'score': 37.48}, {'connected_gene': 'KIFAP3', 'score': 25.85}, {'connected_gene': 'LOC105371608', 'score': 0.34}]
chr1 GH01I170162 170162392 170163490 0.51 [{'connected_gene': 'METTL18', 'score': 15.13}, {'connected_gene': 'KIFAP3', 'score': 9.73}, {'connected_gene': 'MIR3119-1', 'score': 0.39}, {'connected_gene': 'LINC01681', 'score': 0.39}, {'connected_gene': 'METTL11B', 'score': 0.37}, {'connected_gene': 'GC01M170154', 'score': 0.37}]
chr1 GH01I169934 169934500 169934629 0.76 [{'connected_gene': 'METTL18', 'score': 38.81}, {'connected_gene': 'KIFAP3', 'score': 10.01}, {'connected_gene': 'GC01P169942', 'score': 0.44}, {'connected_gene': 'GC01M169872', 'score': 0.28}]
chr1 GH01I169647 169647546 169649252 0.31 [{'connected_gene': 'METTL18', 'score': 23.57}, {'connected_gene': 'F5', 'score': 10.44}, {'connected_gene': 'GC01P169651', 'score': 0.77}, {'connected_gene': 'SELP', 'score': 0.37}]
chr1 GH01I169715 169715577 169719146 0.31 [{'connected_gene': 'METTL18', 'score': 31.15}, {'connected_gene': 'F5', 'score': 11.74}, {'connected_gene': 'SELE', 'score': 10.73}, {'connected_gene': 'GC01M169692', 'score': 0.44}, {'connected_gene': 'SELL', 'score': 0.44}, {'connected_gene': 'C1orf112', 'score': 0.22}]
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 GH01I169678 169678635 169679635 0.2 [{'connected_gene': 'SELP', 'score': 11.11}, {'connected_gene': 'METTL18', 'score': 9.61}, {'connected_gene': 'C1orf112', 'score': 0.37}, {'connected_gene': 'SELL', 'score': 0.29}]
chr1 GH01I169676 169676000 169676401 0.71 [{'connected_gene': 'SELP', 'score': 11.11}, {'connected_gene': 'METTL18', 'score': 7.74}, {'connected_gene': 'C1orf112', 'score': 0.39}, {'connected_gene': 'SELL', 'score': 0.28}]
chr1 GH01I169667 169667001 169668400 0.94 [{'connected_gene': 'SELP', 'score': 25.34}, {'connected_gene': 'METTL18', 'score': 13.5}, {'connected_gene': 'DPT', 'score': 10.11}, {'connected_gene': 'SELL', 'score': 9.98}, {'connected_gene': 'C1orf112', 'score': 0.44}]
chr1 GH01I169600 169600863 169602417 0.79 [{'connected_gene': 'SELP', 'score': 11.4}, {'connected_gene': 'C1orf112', 'score': 10.96}, {'connected_gene': 'METTL18', 'score': 10.83}, {'connected_gene': 'F5', 'score': 6.86}, {'connected_gene': 'SELL', 'score': 6.53}]
chr1 GH01I169608 169608001 169608673 0.2 [{'connected_gene': 'SELP', 'score': 12.03}, {'connected_gene': 'F5', 'score': 11.64}, {'connected_gene': 'C1orf112', 'score': 10.7}, {'connected_gene': 'METTL18', 'score': 10.56}, {'connected_gene': 'SELL', 'score': 6.96}]
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 GH01I169638 169638532 169639897 0.2 [{'connected_gene': 'SELE', 'score': 9.47}, {'connected_gene': 'METTL18', 'score': 8.12}, {'connected_gene': 'SELP', 'score': 0.44}, {'connected_gene': 'GC01P169651', '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 GH01I169662 169662201 169662800 0.49 [{'connected_gene': 'C1orf112', 'score': 550.77}, {'connected_gene': 'METTL18', 'score': 12.91}, {'connected_gene': 'SELP', 'score': 11.38}, {'connected_gene': 'SELL', 'score': 9.46}]
chr1 GH01I169101 169101187 169115216 2.72 [{'connected_gene': 'ATP1B1', 'score': 559.71}, {'connected_gene': 'RN7SL333P', 'score': 13.52}, {'connected_gene': 'METTL18', 'score': 13.44}, {'connected_gene': 'LINC00970', 'score': 11.7}, {'connected_gene': 'NME7', 'score': 6.75}, {'connected_gene': 'CCDC181', 'score': 5.05}, {'connected_gene': 'RPL7AP21', 'score': 4.97}, {'connected_gene': 'XCL2', 'score': 4.22}, {'connected_gene': 'LOC101928596', 'score': 0.77}, {'connected_gene': 'PIR51723', 'score': 0.25}]
chr1 GH01I169362 169362412 169369565 2.47 [{'connected_gene': 'NME7', 'score': 579.09}, {'connected_gene': 'BLZF1', 'score': 550.77}, {'connected_gene': 'C1orf112', 'score': 23.76}, {'connected_gene': 'CCDC181', 'score': 19.63}, {'connected_gene': 'METTL18', 'score': 10.35}, {'connected_gene': 'ENSG00000235575', 'score': 0.22}]
chr1 GH01I170072 170072945 170075519 2.24 [{'connected_gene': 'KIFAP3', 'score': 565.36}, {'connected_gene': 'METTL18', 'score': 37.44}, {'connected_gene': 'C1orf112', 'score': 1.25}, {'connected_gene': 'GC01M170068', 'score': 0.37}, {'connected_gene': 'LOC105371608', 'score': 0.29}]
chr1 GH01I170067 170067245 170069400 1.52 [{'connected_gene': 'KIFAP3', 'score': 550.37}, {'connected_gene': 'METTL18', 'score': 37.45}, {'connected_gene': 'GC01M170068', 'score': 0.34}, {'connected_gene': 'LOC105371608', 'score': 0.31}]
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 GH01I170145 170145879 170146554 1.21 [{'connected_gene': 'METTL11B', 'score': 550.77}, {'connected_gene': 'KIFAP3', 'score': 21.95}, {'connected_gene': 'METTL18', 'score': 14.58}, {'connected_gene': 'MIR3119-2', 'score': 0.44}]
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 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 GH01I169649 169649258 169649968 0.2 [{'connected_gene': 'GC01P169651', 'score': 550.77}, {'connected_gene': 'F5', 'score': 10.44}, {'connected_gene': 'METTL18', 'score': 6.45}, {'connected_gene': 'SELP', '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}]