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
ENST00000369242 [[99817275, 99817696], [99819303, 99819463], [99825261, 99825361], [99828064, 99828217], [99831573, 99831700], [99841949, 99842080]] [[99817475, 99817696], [99819303, 99819463], [99825261, 99825306]]
ENST00000254759 [[99817275, 99817696], [99819303, 99819463], [99823815, 99824058], [99825261, 99825361], [99828064, 99828217], [99831573, 99831700], [99841949, 99842080]] [[99817475, 99817696], [99819303, 99819463], [99823815, 99824058], [99825261, 99825361], [99828064, 99828217], [99831573, 99831700], [99841949, 99842055]]
ENST00000369240 [[99817279, 99817696], [99819303, 99819463], [99825261, 99825330]] [[99817475, 99817696], [99819303, 99819463], [99825261, 99825306]]
ENST00000479163 [[99823993, 99824058], [99825261, 99825361], [99828064, 99828217], [99830883, 99831006], [99831573, 99831700], [99841949, 99842067]] None
NM_017421 [[99817347, 99817696], [99819303, 99819463], [99823815, 99824058], [99825261, 99825361], [99828064, 99828217], [99831573, 99831700], [99841949, 99842082]] [[99817475, 99817696], [99819303, 99819463], [99823815, 99824058], [99825261, 99825361], [99828064, 99828217], [99831573, 99831700], [99841949, 99842055]]
Promoter
Chrom Start End Description
chr6 99842041 99842087 CAGE_peak_1_at_COQ3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I099329 99329852 99330137 0.62 [{'connected_gene': 'COQ3', 'score': 11.39}, {'connected_gene': 'FAXC', 'score': 3.71}, {'connected_gene': 'POU3F2', 'score': 2.59}, {'connected_gene': 'GC06P099185', 'score': 0.11}]
chr6 GH06I099417 99417094 99417767 0.57 [{'connected_gene': 'COQ3', 'score': 12.2}, {'connected_gene': 'LOC101927365', 'score': 6.59}, {'connected_gene': 'PNISR', 'score': 0.44}, {'connected_gene': 'GC06M099409', 'score': 0.44}]
chr6 GH06I099393 99393174 99394774 2.03 [{'connected_gene': 'COQ3', 'score': 550.77}, {'connected_gene': 'LOC101927365', 'score': 30.65}, {'connected_gene': 'RPS3P5', 'score': 16.31}, {'connected_gene': 'FBXL4', 'score': 13.94}, {'connected_gene': 'TSTD3', 'score': 10.87}, {'connected_gene': 'PNISR', 'score': 10.55}, {'connected_gene': 'FAXC', 'score': 0.26}]
chr6 GH06I099420 99420477 99420536 0.5 [{'connected_gene': 'PNISR', 'score': 550.77}, {'connected_gene': 'COQ3', 'score': 11.47}, {'connected_gene': 'LOC101927365', 'score': 0.77}, {'connected_gene': 'GC06M099409', 'score': 0.39}]

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