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
ENST00000498289 [[169631244, 169631761], [169652609, 169652766], [169652896, 169653073], [169752951, 169753069], [169754017, 169754054], [169767997, 169768099], [169770023, 169770112], [169771761, 169771866], [169772309, 169772450], [169773252, 169773381], [169775144, 169775229], [169776931, 169777070], [169790819, 169790900], [169792548, 169792613], [169796191, 169796340], [169796851, 169796981], [169798403, 169798590], [169799399, 169799482], [169799836, 169799888], [169801557, 169801647], [169806067, 169806253], [169811557, 169811680], [169812814, 169812910], [169816830, 169816944], [169818640, 169818745], [169819405, 169819468], [169819594, 169819707], [169820957, 169821077], [169821930, 169822226]] None
ENST00000472795 [[169763870, 169764046], [169767997, 169768099], [169770023, 169770112], [169771761, 169771866], [169772309, 169772450], [169773215, 169773521]] None
ENST00000413811 [[169764180, 169764354], [169768059, 169768099], [169771761, 169771866], [169772309, 169772450], [169773215, 169773381], [169775144, 169775229], [169776931, 169777070], [169790819, 169790900], [169792548, 169792613], [169796191, 169796340], [169798403, 169798955]] [[169771782, 169771866], [169772309, 169772450], [169773215, 169773381], [169775144, 169775229], [169776931, 169777070], [169790819, 169790900], [169792548, 169792613], [169796191, 169796340], [169798403, 169798486]]
ENST00000496973 [[169764183, 169764354], [169768059, 169768099], [169770023, 169770112], [169771761, 169771866], [169772309, 169772450], [169773252, 169773488]] None
ENST00000481744 [[169764183, 169764354], [169768059, 169768099], [169771761, 169771866], [169772309, 169772450], [169773215, 169773381], [169775144, 169775229], [169776931, 169776978]] None
ENST00000359326 [[169764189, 169764256], [169764969, 169765124], [169767997, 169768099], [169770023, 169770112], [169771761, 169771866], [169772309, 169772450], [169773215, 169773381], [169775144, 169775229], [169776931, 169777070], [169790819, 169790900], [169792548, 169792613], [169796191, 169796340], [169796851, 169796981], [169798403, 169798590], [169799399, 169799482], [169799836, 169799888], [169801557, 169801647], [169806067, 169806253], [169811557, 169811680], [169812814, 169812910], [169816830, 169816944], [169818640, 169818745], [169819405, 169819486], [169820957, 169821077], [169821930, 169823221]] [[169770046, 169770112], [169771761, 169771866], [169772309, 169772450], [169773215, 169773381], [169775144, 169775229], [169776931, 169777070], [169790819, 169790900], [169792548, 169792613], [169796191, 169796340], [169796851, 169796981], [169798403, 169798590], [169799399, 169799482], [169799836, 169799888], [169801557, 169801647], [169806067, 169806253], [169811557, 169811680], [169812814, 169812910], [169816830, 169816944], [169818640, 169818745], [169819405, 169819486], [169820957, 169821077], [169821930, 169822128]]
ENST00000466580 [[169764219, 169764354], [169768059, 169768099], [169771761, 169771866], [169772309, 169772450], [169773252, 169773381], [169775144, 169775229], [169776931, 169777070], [169790819, 169790860]] None
ENST00000456684 [[169764219, 169764354], [169768059, 169768099], [169770023, 169770112], [169771761, 169771866], [169772309, 169772450], [169773215, 169773381], [169775144, 169775229], [169776931, 169777070], [169790819, 169790900], [169792548, 169792613], [169795233, 169795258]] [[169764243, 169764354], [169768059, 169768099], [169770023, 169770112], [169771761, 169771866], [169772309, 169772450], [169773215, 169773381], [169775144, 169775229], [169776931, 169777070], [169790819, 169790900], [169792548, 169792613], [169795233, 169795258]]
ENST00000459772 [[169764219, 169764354], [169768059, 169768099], [169771761, 169771866], [169772309, 169772450], [169773252, 169773381], [169775144, 169775229], [169776931, 169777070], [169790819, 169790900], [169792548, 169792613], [169796191, 169796340], [169796851, 169796981], [169798403, 169798590], [169799399, 169799482], [169799836, 169799888], [169801557, 169801647], [169806067, 169806253], [169811557, 169811680], [169812814, 169812910], [169816830, 169816944], [169818640, 169818745], [169819405, 169819486], [169820957, 169821077], [169821930, 169823221]] None
ENST00000286031 [[169764549, 169765124], [169767997, 169768099], [169770023, 169770112], [169771761, 169771866], [169772309, 169772450], [169773215, 169773381], [169775144, 169775229], [169776931, 169777070], [169790819, 169790900], [169792548, 169792613], [169796191, 169796340], [169796851, 169796981], [169798403, 169798590], [169799399, 169799482], [169799836, 169799888], [169801557, 169801647], [169806067, 169806253], [169811557, 169811680], [169812814, 169812910], [169816830, 169816944], [169818640, 169818745], [169819405, 169819486], [169820957, 169821077], [169821930, 169823221]] [[169770046, 169770112], [169771761, 169771866], [169772309, 169772450], [169773215, 169773381], [169775144, 169775229], [169776931, 169777070], [169790819, 169790900], [169792548, 169792613], [169796191, 169796340], [169796851, 169796981], [169798403, 169798590], [169799399, 169799482], [169799836, 169799888], [169801557, 169801647], [169806067, 169806253], [169811557, 169811680], [169812814, 169812910], [169816830, 169816944], [169818640, 169818745], [169819405, 169819486], [169820957, 169821077], [169821930, 169822128]]
NM_001320051 [[169763870, 169764046], [169767997, 169768099], [169770023, 169770112], [169771761, 169771866], [169772309, 169772450], [169773215, 169773527]] [[169770046, 169770112], [169771761, 169771866], [169772309, 169772450], [169773215, 169773389]]
NM_001320050 [[169764139, 169764354], [169768059, 169768099], [169770023, 169770112], [169771761, 169771866], [169772309, 169772450], [169773252, 169773527]] [[169764243, 169764354], [169768059, 169768099], [169770023, 169770112], [169771761, 169771866], [169772309, 169772450], [169773252, 169773309]]
NM_001320047 [[169764139, 169764256], [169764969, 169765124], [169767997, 169768099], [169770023, 169770112], [169771761, 169771866], [169772309, 169772450], [169773215, 169773381], [169775144, 169775229], [169776931, 169777070], [169790819, 169790900], [169792548, 169792613], [169796191, 169796340], [169796851, 169796981], [169798403, 169798590], [169799399, 169799482], [169799836, 169799888], [169801557, 169801647], [169806067, 169806253], [169811557, 169811680], [169812814, 169812910], [169816830, 169816944], [169818640, 169818745], [169819405, 169819486], [169820957, 169821077], [169821930, 169822229]] [[169770046, 169770112], [169771761, 169771866], [169772309, 169772450], [169773215, 169773381], [169775144, 169775229], [169776931, 169777070], [169790819, 169790900], [169792548, 169792613], [169796191, 169796340], [169796851, 169796981], [169798403, 169798590], [169799399, 169799482], [169799836, 169799888], [169801557, 169801647], [169806067, 169806253], [169811557, 169811680], [169812814, 169812910], [169816830, 169816944], [169818640, 169818745], [169819405, 169819486], [169820957, 169821077], [169821930, 169822128]]
NM_001320048 [[169764139, 169764354], [169768059, 169768099], [169771761, 169771866], [169772309, 169772450], [169773252, 169773381], [169775144, 169775229], [169776931, 169777070], [169790819, 169790900], [169792548, 169792613], [169796191, 169796340], [169796851, 169796981], [169798403, 169798590], [169799399, 169799482], [169799836, 169799888], [169801557, 169801647], [169806067, 169806253], [169811557, 169811680], [169812814, 169812910], [169816830, 169816944], [169818640, 169818745], [169819405, 169819486], [169820957, 169821077], [169821930, 169822229]] [[169773308, 169773381], [169775144, 169775229], [169776931, 169777070], [169790819, 169790900], [169792548, 169792613], [169796191, 169796340], [169796851, 169796981], [169798403, 169798590], [169799399, 169799482], [169799836, 169799888], [169801557, 169801647], [169806067, 169806253], [169811557, 169811680], [169812814, 169812910], [169816830, 169816944], [169818640, 169818745], [169819405, 169819486], [169820957, 169821077], [169821930, 169822128]]
NM_018186 [[169764549, 169765124], [169767997, 169768099], [169770023, 169770112], [169771761, 169771866], [169772309, 169772450], [169773215, 169773381], [169775144, 169775229], [169776931, 169777070], [169790819, 169790900], [169792548, 169792613], [169796191, 169796340], [169796851, 169796981], [169798403, 169798590], [169799399, 169799482], [169799836, 169799888], [169801557, 169801647], [169806067, 169806253], [169811557, 169811680], [169812814, 169812910], [169816830, 169816944], [169818640, 169818745], [169819405, 169819486], [169820957, 169821077], [169821930, 169822229]] [[169770046, 169770112], [169771761, 169771866], [169772309, 169772450], [169773215, 169773381], [169775144, 169775229], [169776931, 169777070], [169790819, 169790900], [169792548, 169792613], [169796191, 169796340], [169796851, 169796981], [169798403, 169798590], [169799399, 169799482], [169799836, 169799888], [169801557, 169801647], [169806067, 169806253], [169811557, 169811680], [169812814, 169812910], [169816830, 169816944], [169818640, 169818745], [169819405, 169819486], [169820957, 169821077], [169821930, 169822128]]
Promoter
Chrom Start End Description
chr1 169764163 169764240 CAGE_peak_1_at_C1orf112_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 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 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 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 GH01I169671 169671629 169672540 0.2 [{'connected_gene': 'SELP', 'score': 11.12}, {'connected_gene': 'C1orf112', 'score': 0.39}, {'connected_gene': 'SELL', 'score': 0.28}]
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 GH01I169734 169734069 169734128 0.5 [{'connected_gene': 'SELE', 'score': 550.29}, {'connected_gene': 'GC01M169692', 'score': 0.44}, {'connected_gene': 'ENSG00000230704', 'score': 0.29}, {'connected_gene': 'C1orf112', 'score': 0.19}]
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 GH01I168708 168708213 168710954 1.07 [{'connected_gene': 'C1orf112', 'score': 24.75}, {'connected_gene': 'TIPRL', 'score': 10.27}, {'connected_gene': 'LOC101928596', 'score': 9.75}, {'connected_gene': 'ATP1B1', 'score': 9.75}, {'connected_gene': 'CCDC181', 'score': 5.34}, {'connected_gene': 'DPT', 'score': 5.22}, {'connected_gene': 'GC01M168701', 'score': 0.39}, {'connected_gene': 'LOC105371604', 'score': 0.26}]
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 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 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 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}]

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