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
ENST00000367765 [[169890466, 169890922], [169923151, 169923251], [169930186, 169930376], [169941653, 169941739], [169947225, 169947324], [169951112, 169951238], [169951842, 169952008], [169952410, 169952523], [169953722, 169953831], [169961295, 169961396], [169985602, 169985765], [169993558, 169993737], [170001026, 170001125], [170003512, 170003637], [170004594, 170004694], [170007430, 170007572], [170008373, 170008429], [170015852, 170016007], [170024445, 170024577], [170036644, 170038058]] [[169890816, 169890922], [169923151, 169923251], [169930186, 169930376], [169941653, 169941739], [169947225, 169947324], [169951112, 169951238], [169951842, 169952008], [169952410, 169952523], [169953722, 169953831], [169961295, 169961396], [169985602, 169985765], [169993558, 169993737], [170001026, 170001125], [170003512, 170003637], [170004594, 170004694], [170007430, 170007572], [170008373, 170008429], [170015852, 170016007], [170024445, 170024489]]
ENST00000367767 [[169890466, 169890922], [169923151, 169923251], [169930186, 169930376], [169941653, 169941739], [169947225, 169947324], [169951112, 169951238], [169951842, 169952008], [169952410, 169952523], [169953722, 169953831], [169961295, 169961396], [169985602, 169985765], [169993558, 169993737], [170001026, 170001125], [170003512, 170003637], [170004594, 170004694], [170007430, 170007572], [170008373, 170008429], [170015852, 170016007], [170043576, 170043729]] [[169890816, 169890922], [169923151, 169923251], [169930186, 169930376], [169941653, 169941739], [169947225, 169947324], [169951112, 169951238], [169951842, 169952008], [169952410, 169952523], [169953722, 169953831], [169961295, 169961396], [169985602, 169985765], [169993558, 169993737], [170001026, 170001125], [170003512, 170003637], [170004594, 170004694], [170007430, 170007572], [170008373, 170008429], [170015852, 170016007], [170043576, 170043608]]
ENST00000361580 [[169890466, 169890922], [169923151, 169923251], [169930186, 169930376], [169941653, 169941739], [169947225, 169947324], [169951112, 169951238], [169951842, 169952008], [169952410, 169952523], [169953722, 169953831], [169961295, 169961396], [169985602, 169985765], [169993558, 169993737], [170001026, 170001125], [170003512, 170003637], [170004594, 170004694], [170007430, 170007572], [170008373, 170008429], [170015852, 170016007], [170024445, 170024577], [170043576, 170043836]] [[169890816, 169890922], [169923151, 169923251], [169930186, 169930376], [169941653, 169941739], [169947225, 169947324], [169951112, 169951238], [169951842, 169952008], [169952410, 169952523], [169953722, 169953831], [169961295, 169961396], [169985602, 169985765], [169993558, 169993737], [170001026, 170001125], [170003512, 170003637], [170004594, 170004694], [170007430, 170007572], [170008373, 170008429], [170015852, 170016007], [170024445, 170024577], [170043576, 170043608]]
ENST00000538366 [[169890572, 169890922], [169923151, 169923251], [169930186, 169930376], [169941653, 169941739], [169947225, 169947324], [169951112, 169951238], [169951842, 169952008], [169952410, 169952523], [169953722, 169953831], [169961295, 169961396], [169985602, 169985765], [169993558, 169993737], [170001026, 170001125], [170003512, 170003637], [170004594, 170004694], [170007430, 170007572], [170008373, 170008429], [170010817, 170010981], [170015852, 170016007], [170024445, 170024577], [170043576, 170043836]] [[169890816, 169890922], [169923151, 169923251], [169930186, 169930376], [169941653, 169941739], [169947225, 169947324], [169951112, 169951238], [169951842, 169952008], [169952410, 169952523], [169953722, 169953831], [169961295, 169961396], [169985602, 169985765], [169993558, 169993737], [170001026, 170001125], [170003512, 170003637], [170004594, 170004694], [170007430, 170007572], [170008373, 170008429], [170010817, 170010902]]
ENST00000474292 [[169993608, 169993737], [170001026, 170001351]] None
ENST00000540905 [[169890477, 169890922], [169923151, 169923251], [169930186, 169930376], [169941653, 169941739], [169947225, 169947324], [169951112, 169951238], [169951842, 169952008], [169952410, 169952523], [169953722, 169953831], [169961295, 169961396], [169985602, 169985765], [169993558, 169993737], [169994963, 169995042]] [[169890816, 169890922], [169923151, 169923251], [169930186, 169930376], [169941653, 169941739], [169947225, 169947324], [169951112, 169951238], [169951842, 169952008], [169952410, 169952523], [169953722, 169953831], [169961295, 169961396], [169985602, 169985765], [169993558, 169993684]]
ENST00000490550 [[170004649, 170004694], [170007430, 170007572], [170008373, 170008429], [170015852, 170016007], [170024445, 170024577], [170054175, 170054349]] None
NM_001204517 [[169890469, 169890922], [169923151, 169923251], [169930186, 169930376], [169941653, 169941739], [169947225, 169947324], [169951112, 169951238], [169951842, 169952008], [169952410, 169952523], [169953722, 169953831], [169961295, 169961396], [169985602, 169985765], [169993558, 169993737], [170001026, 170001125], [170003512, 170003637], [170004594, 170004694], [170007430, 170007572], [170008373, 170008429], [170015852, 170016007], [170024445, 170024577], [170036644, 170038056]] [[169890816, 169890922], [169923151, 169923251], [169930186, 169930376], [169941653, 169941739], [169947225, 169947324], [169951112, 169951238], [169951842, 169952008], [169952410, 169952523], [169953722, 169953831], [169961295, 169961396], [169985602, 169985765], [169993558, 169993737], [170001026, 170001125], [170003512, 170003637], [170004594, 170004694], [170007430, 170007572], [170008373, 170008429], [170015852, 170016007], [170024445, 170024489]]
NM_001204514 [[169890469, 169890922], [169923151, 169923251], [169930186, 169930376], [169941653, 169941739], [169947225, 169947324], [169951112, 169951238], [169951842, 169952008], [169952410, 169952523], [169953722, 169953831], [169961295, 169961396], [169985602, 169985765], [169993558, 169993737], [170001026, 170001125], [170003512, 170003637], [170004594, 170004694], [170007430, 170007572], [170008373, 170008429], [170010817, 170010981], [170015852, 170016007], [170024445, 170024577], [170043576, 170043879]] [[169890816, 169890922], [169923151, 169923251], [169930186, 169930376], [169941653, 169941739], [169947225, 169947324], [169951112, 169951238], [169951842, 169952008], [169952410, 169952523], [169953722, 169953831], [169961295, 169961396], [169985602, 169985765], [169993558, 169993737], [170001026, 170001125], [170003512, 170003637], [170004594, 170004694], [170007430, 170007572], [170008373, 170008429], [170010817, 170010902]]
NM_014970 [[169890469, 169890922], [169923151, 169923251], [169930186, 169930376], [169941653, 169941739], [169947225, 169947324], [169951112, 169951238], [169951842, 169952008], [169952410, 169952523], [169953722, 169953831], [169961295, 169961396], [169985602, 169985765], [169993558, 169993737], [170001026, 170001125], [170003512, 170003637], [170004594, 170004694], [170007430, 170007572], [170008373, 170008429], [170015852, 170016007], [170024445, 170024577], [170043576, 170043879]] [[169890816, 169890922], [169923151, 169923251], [169930186, 169930376], [169941653, 169941739], [169947225, 169947324], [169951112, 169951238], [169951842, 169952008], [169952410, 169952523], [169953722, 169953831], [169961295, 169961396], [169985602, 169985765], [169993558, 169993737], [170001026, 170001125], [170003512, 170003637], [170004594, 170004694], [170007430, 170007572], [170008373, 170008429], [170015852, 170016007], [170024445, 170024577], [170043576, 170043608]]
NM_001204516 [[169890469, 169890922], [169923151, 169923251], [169930186, 169930376], [169941653, 169941739], [169947225, 169947324], [169951112, 169951238], [169951842, 169952008], [169952410, 169952523], [169953722, 169953831], [169961295, 169961396], [169985602, 169985765], [169993558, 169993737], [170001026, 170001125], [170003512, 170003637], [170004594, 170004694], [170007430, 170007572], [170008373, 170008429], [170015852, 170016007], [170043576, 170043879]] [[169890816, 169890922], [169923151, 169923251], [169930186, 169930376], [169941653, 169941739], [169947225, 169947324], [169951112, 169951238], [169951842, 169952008], [169952410, 169952523], [169953722, 169953831], [169961295, 169961396], [169985602, 169985765], [169993558, 169993737], [170001026, 170001125], [170003512, 170003637], [170004594, 170004694], [170007430, 170007572], [170008373, 170008429], [170015852, 170016007], [170043576, 170043608]]
Promoter
Chrom Start End Description
chr1 170043617 170043675 CAGE_peak_2_at_KIFAP3_5end
chr1 170043681 170043695 CAGE_peak_3_at_KIFAP3_5end
chr1 170043709 170043874 CAGE_peak_1_at_KIFAP3_5end
chr1 170043917 170043928 CAGE_peak_4_at_KIFAP3_5end
chr1 170054315 170054328 CAGE_peak_7_at_KIFAP3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
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 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 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 GH01I169931 169931860 169932153 0.69 [{'connected_gene': 'PRRX1', 'score': 9.39}, {'connected_gene': 'GC01P169942', 'score': 0.39}, {'connected_gene': 'GC01M169872', 'score': 0.28}, {'connected_gene': 'KIFAP3', 'score': 0.1}]
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 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 GH01I170134 170134170 170135096 0.2 [{'connected_gene': 'KIFAP3', 'score': 22.41}, {'connected_gene': 'METTL11B', 'score': 0.39}, {'connected_gene': 'SIGLEC30P', 'score': 0.37}]
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 GH01I170041 170041684 170042125 0.64 [{'connected_gene': 'LOC105371608', 'score': 550.77}, {'connected_gene': 'KIFAP3', 'score': 10.92}]
chr1 GH01I170562 170562267 170564134 0.92 [{'connected_gene': 'LOC101928650', 'score': 11.46}, {'connected_gene': 'GORAB', 'score': 11.46}, {'connected_gene': 'KIFAP3', 'score': 5.94}, {'connected_gene': 'ENSG00000225545', 'score': 0.31}]
chr1 GH01I170444 170444300 170446646 0.2 [{'connected_gene': 'LOC101928650', 'score': 18.55}, {'connected_gene': 'GORAB', 'score': 11.32}, {'connected_gene': 'KIFAP3', 'score': 6.01}, {'connected_gene': 'GC01P170411', 'score': 0.29}]
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 GH01I169311 169311804 169312932 1.17 [{'connected_gene': 'ENSG00000235575', 'score': 550.77}, {'connected_gene': 'NME7', 'score': 36.41}, {'connected_gene': 'KIFAP3', 'score': 10.09}, {'connected_gene': 'BLZF1', 'score': 0.22}]
chr1 GH01I170273 170273555 170274709 0.52 [{'connected_gene': 'GC01M170272', 'score': 550.77}, {'connected_gene': 'KIFAP3', 'score': 10.51}, {'connected_gene': 'GORAB', 'score': 5.63}, {'connected_gene': 'LINC01142', 'score': 0.39}]
chr1 GH01I169929 169929020 169929149 0.66 [{'connected_gene': 'GC01P169942', 'score': 0.39}, {'connected_gene': 'GC01M169872', 'score': 0.29}, {'connected_gene': 'KIFAP3', 'score': 0.1}]

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