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
ENST00000380338 [[20341662, 20346572], [20353522, 20353594], [20354805, 20354877], [20360739, 20360839], [20363473, 20363603], [20365666, 20365742], [20413718, 20414423], [20448120, 20448264], [20456701, 20456784], [20620652, 20620833], [20622243, 20622542]] [[20346440, 20346572], [20353522, 20353594], [20354805, 20354877], [20360739, 20360839], [20363473, 20363603], [20365666, 20365742], [20413718, 20414423], [20448120, 20448264], [20456701, 20456784], [20620652, 20620833], [20622243, 20622255]]
ENST00000355930 [[20344967, 20346572], [20354805, 20354877], [20360739, 20360839], [20363473, 20363603], [20365666, 20365742], [20413718, 20414423], [20448120, 20448264], [20456701, 20456784], [20620652, 20620833], [20622243, 20622514]] [[20346440, 20346572], [20354805, 20354877], [20360739, 20360839], [20363473, 20363586]]
ENST00000429426 [[20346196, 20346572], [20353522, 20353594], [20354805, 20354877], [20360739, 20360839], [20363473, 20363603], [20365666, 20365742], [20413718, 20414423], [20448120, 20448264], [20456701, 20456784], [20620652, 20620833], [20621771, 20621872]] [[20346440, 20346572], [20353522, 20353594], [20354805, 20354877], [20360739, 20360839], [20363473, 20363603], [20365666, 20365742], [20413718, 20414423], [20448120, 20448264], [20456701, 20456784], [20620652, 20620833], [20621771, 20621774]]
ENST00000475957 [[20362702, 20363603], [20365666, 20365742], [20413718, 20414423], [20620652, 20620833], [20622243, 20622439]] None
ENST00000380323 [[20345074, 20346572], [20354805, 20354877], [20360739, 20360839], [20363473, 20363603], [20365666, 20365742], [20382378, 20382485]] None
ENST00000469261 [[20346290, 20346572], [20360739, 20360839], [20363473, 20363567]] None
ENST00000488705 [[20346350, 20346572], [20353522, 20353594], [20354805, 20354877], [20382378, 20382469]] None
ENST00000380321 [[20346403, 20346572], [20353522, 20353594], [20354805, 20354877], [20360739, 20360839], [20363473, 20363603], [20365666, 20365742], [20382378, 20382467]] [[20346440, 20346572], [20353522, 20353594], [20354805, 20354877], [20360739, 20360839], [20363473, 20363586]]
ENST00000468513 [[20360739, 20360839], [20363473, 20363603], [20365666, 20365742], [20410558, 20410668], [20411813, 20411960]] None
ENST00000491137 [[20360750, 20360839], [20363473, 20363603], [20365666, 20365742], [20380204, 20380325], [20382378, 20382450]] None
NM_001286691 [[20341662, 20346572], [20353522, 20353594], [20354805, 20354877], [20360739, 20360839], [20363473, 20363603], [20365666, 20365742], [20413718, 20414423], [20448120, 20448264], [20456701, 20456784], [20620652, 20620833], [20621771, 20621986]] [[20346440, 20346572], [20353522, 20353594], [20354805, 20354877], [20360739, 20360839], [20363473, 20363603], [20365666, 20365742], [20413718, 20414423], [20448120, 20448264], [20456701, 20456784], [20620652, 20620833], [20621771, 20621774]]
NM_004529 [[20341662, 20346572], [20353522, 20353594], [20354805, 20354877], [20360739, 20360839], [20363473, 20363603], [20365666, 20365742], [20413718, 20414423], [20448120, 20448264], [20456701, 20456784], [20620652, 20620833], [20622243, 20622542]] [[20346440, 20346572], [20353522, 20353594], [20354805, 20354877], [20360739, 20360839], [20363473, 20363603], [20365666, 20365742], [20413718, 20414423], [20448120, 20448264], [20456701, 20456784], [20620652, 20620833], [20622243, 20622255]]
Promoter
Chrom Start End Description
chr9 20382446 20382493 CAGE_peak_4_at_MLLT3_5end
chr9 20620829 20620848 CAGE_peak_7_at_MLLT3_5end
chr9 20621834 20621884 CAGE_peak_5_at_MLLT3_5end
chr9 20621927 20621996 CAGE_peak_3_at_MLLT3_5end
chr9 20622444 20622468 CAGE_peak_2_at_MLLT3_5end
chr9 20622478 20622525 CAGE_peak_1_at_MLLT3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I020640 20640042 20641221 1.06 [{'connected_gene': 'MIR491', 'score': 10.1}, {'connected_gene': 'MLLT3', 'score': 0.37}, {'connected_gene': 'FOCAD', 'score': 0.37}]
chr9 GH09I020634 20634362 20634511 0.46 [{'connected_gene': 'FOCAD', 'score': 11.91}, {'connected_gene': 'MIR491', 'score': 10.23}, {'connected_gene': 'MLLT3', 'score': 0.39}]
chr9 GH09I020619 20619752 20625051 1.99 [{'connected_gene': 'MLLT3', 'score': 556.39}, {'connected_gene': 'KLHL9', 'score': 23.36}, {'connected_gene': 'FOCAD', 'score': 11.63}, {'connected_gene': 'IFNA20P', 'score': 10.09}, {'connected_gene': 'RPL7AP48', 'score': 0.17}]
chr9 GH09I020557 20557904 20559589 0.89 [{'connected_gene': 'MLLT3', 'score': 12.23}, {'connected_gene': 'FOCAD', 'score': 10.51}, {'connected_gene': 'MIR491', 'score': 9.89}, {'connected_gene': 'RPL7AP48', 'score': 0.31}]
chr9 GH09I020610 20610510 20612618 1.07 [{'connected_gene': 'MLLT3', 'score': 12.96}, {'connected_gene': 'FOCAD', 'score': 10.47}, {'connected_gene': 'RPL7AP48', 'score': 0.18}]
chr9 GH09I020353 20353230 20357544 1.05 [{'connected_gene': 'MLLT3', 'score': 11.46}, {'connected_gene': 'GC09M020330', 'score': 0.34}, {'connected_gene': 'MIR4473', 'score': 0.22}]
chr9 GH09I020620 20618382 20618551 0.72 [{'connected_gene': 'MLLT3', 'score': 0.77}, {'connected_gene': 'RPL7AP48', 'score': 0.17}]
chr9 GH09I020618 20618600 20618911 0.92 [{'connected_gene': 'MLLT3', 'score': 0.77}, {'connected_gene': 'RPL7AP48', 'score': 0.17}]
chr9 GH09I020599 20599262 20599531 0.2 [{'connected_gene': 'MLLT3', 'score': 35.06}, {'connected_gene': 'RPL7AP48', 'score': 0.2}]
chr9 GH09I020553 20553183 20554380 0.77 [{'connected_gene': 'MLLT3', 'score': 12.0}, {'connected_gene': 'RPL7AP48', 'score': 0.34}]
chr9 GH09I020593 20592998 20593932 0.49 [{'connected_gene': 'MLLT3', 'score': 33.43}, {'connected_gene': 'RPL7AP48', 'score': 0.21}]
chr9 GH09I020601 20601801 20602000 0.31 [{'connected_gene': 'MLLT3', 'score': 12.58}, {'connected_gene': 'RPL7AP48', 'score': 0.2}]
chr9 GH09I020550 20550838 20552600 1.18 [{'connected_gene': 'MLLT3', 'score': 13.59}, {'connected_gene': 'RPL7AP48', 'score': 0.37}]
chr9 GH09I020592 20592762 20592971 0.2 [{'connected_gene': 'MLLT3', 'score': 0.31}, {'connected_gene': 'RPL7AP48', 'score': 0.21}]
chr9 GH09I020604 20604345 20605283 0.72 [{'connected_gene': 'MLLT3', 'score': 6.63}, {'connected_gene': 'RPL7AP48', 'score': 0.19}]
chr9 GH09I020941 20941001 20941401 0.91 [{'connected_gene': 'HACD4', 'score': 12.3}, {'connected_gene': 'MLLT3', 'score': 11.04}, {'connected_gene': 'FOCAD', 'score': 10.8}, {'connected_gene': 'LOC105375989', 'score': 0.17}, {'connected_gene': 'SNORA30B', 'score': 0.1}]
chr9 GH09I020441 20441749 20443572 0.43 [{'connected_gene': 'RNU4-26P', 'score': 0.34}, {'connected_gene': 'MIR4474', 'score': 0.22}, {'connected_gene': 'MLLT3', 'score': 0.1}]
chr9 GH09I020478 20478200 20478401 0.38 [{'connected_gene': 'MIR4474', 'score': 0.34}, {'connected_gene': 'RNU4-26P', 'score': 0.22}, {'connected_gene': 'MLLT3', 'score': 0.11}]
chr9 GH09I020477 20477043 20477192 0.66 [{'connected_gene': 'MIR4474', 'score': 0.31}, {'connected_gene': 'RNU4-26P', 'score': 0.22}, {'connected_gene': 'MLLT3', 'score': 0.11}]
chr9 GH09I020511 20511701 20513497 0.63 [{'connected_gene': 'MIR4474', 'score': 0.39}, {'connected_gene': 'RPL7AP48', 'score': 0.37}, {'connected_gene': 'MLLT3', 'score': 0.14}]
chr9 GH09I020508 20508201 20508600 0.69 [{'connected_gene': 'MIR4474', 'score': 0.44}, {'connected_gene': 'RPL7AP48', 'score': 0.34}, {'connected_gene': 'MLLT3', 'score': 0.14}]
chr9 GH09I020509 20509006 20510344 0.2 [{'connected_gene': 'MIR4474', 'score': 0.44}, {'connected_gene': 'RPL7AP48', 'score': 0.34}, {'connected_gene': 'MLLT3', 'score': 0.14}]
chr9 GH09I020505 20505043 20505172 0.2 [{'connected_gene': 'MIR4474', 'score': 0.77}, {'connected_gene': 'RPL7AP48', 'score': 0.31}, {'connected_gene': 'MLLT3', 'score': 0.13}]
chr9 GH09I020408 20408141 20409189 0.72 [{'connected_gene': 'MIR4473', 'score': 0.77}, {'connected_gene': 'GC09M020330', 'score': 0.18}, {'connected_gene': 'MLLT3', 'score': 0.08}]
chr9 GH09I020398 20398703 20398852 0.2 [{'connected_gene': 'MIR4473', 'score': 0.39}, {'connected_gene': 'GC09M020330', 'score': 0.2}, {'connected_gene': 'MLLT3', 'score': 0.07}]
chr9 GH09I020373 20373111 20374012 0.2 [{'connected_gene': 'MIR4473', 'score': 0.28}, {'connected_gene': 'GC09M020330', 'score': 0.26}, {'connected_gene': 'MLLT3', 'score': 0.07}]
chr9 GH09I020376 20376272 20377486 0.46 [{'connected_gene': 'MIR4473', 'score': 0.29}, {'connected_gene': 'GC09M020330', 'score': 0.26}, {'connected_gene': 'MLLT3', 'score': 0.07}]
chr9 GH09I020382 20382763 20383032 0.84 [{'connected_gene': 'MIR4473', 'score': 0.31}, {'connected_gene': 'GC09M020330', 'score': 0.23}, {'connected_gene': 'MLLT3', 'score': 0.07}]
chr9 GH09I020532 20532400 20532532 0.23 [{'connected_gene': 'RPL7AP48', 'score': 550.77}, {'connected_gene': 'MLLT3', 'score': 5.27}, {'connected_gene': 'MIR4474', 'score': 0.29}]
chr9 GH09I020568 20568972 20571336 0.69 [{'connected_gene': 'RPL7AP48', 'score': 0.28}, {'connected_gene': 'MLLT3', 'score': 0.23}]
chr9 GH09I020524 20524863 20524992 0.43 [{'connected_gene': 'RPL7AP48', 'score': 0.44}, {'connected_gene': 'MIR4474', 'score': 0.34}, {'connected_gene': 'MLLT3', 'score': 0.15}]