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
ENST00000371687 [[92979907, 92980084], [92982445, 92982740], [92987093, 92987131]] [[92982628, 92982740], [92987093, 92987131]]
ENST00000543648 [[92979907, 92980084], [92982445, 92982740], [93000240, 93000337], [93008261, 93008317], [93008421, 93008481], [93011048, 93011197], [93021082, 93021181], [93024187, 93024277], [93031394, 93031454], [93038025, 93038341]] [[92982628, 92982740], [93000240, 93000337], [93008261, 93008317], [93008421, 93008481], [93011048, 93011197], [93021082, 93021181], [93024187, 93024277], [93031394, 93031454], [93038025, 93038073]]
ENST00000496708 [[92979933, 92980037], [92980127, 92980593], [92982445, 92982686]] None
ENST00000490164 [[92980539, 92980593], [92982445, 92982740], [92987093, 92987717]] None
ENST00000336126 [[92980544, 92980593], [92982445, 92982740], [93000240, 93000337], [93008261, 93008317], [93008421, 93008481], [93011048, 93011197], [93021082, 93021181], [93024187, 93024277], [93031394, 93031454], [93038025, 93044088]] [[92982628, 92982740], [93000240, 93000337], [93008261, 93008317], [93008421, 93008481], [93011048, 93011197], [93021082, 93021181], [93024187, 93024277], [93031394, 93031454], [93038025, 93038073]]
NR_046435 [[92922768, 92922838], [92982445, 92982740], [92987093, 92987717]] None
NM_001257101 [[92922768, 92922838], [92982445, 92982740], [93000240, 93000337], [93008261, 93008317], [93008421, 93008481], [93011048, 93011197], [93021082, 93021181], [93024187, 93024277], [93031394, 93031454], [93038025, 93044088]] [[92982628, 92982740], [93000240, 93000337], [93008261, 93008317], [93008421, 93008481], [93011048, 93011197], [93021082, 93021181], [93024187, 93024277], [93031394, 93031454], [93038025, 93038073]]
NM_001256549 [[92979907, 92980084], [92982445, 92982740], [93000240, 93000337], [93008261, 93008317], [93008421, 93008481], [93011048, 93011197], [93021082, 93021181], [93024187, 93024277], [93031394, 93031454], [93038025, 93044088]] [[92982628, 92982740], [93000240, 93000337], [93008261, 93008317], [93008421, 93008481], [93011048, 93011197], [93021082, 93021181], [93024187, 93024277], [93031394, 93031454], [93038025, 93038073]]
NR_046310 [[92980358, 92980593], [92982445, 92982740], [92987093, 92987717]] None
NM_032373 [[92980358, 92980593], [92982445, 92982740], [93000240, 93000337], [93008261, 93008317], [93008421, 93008481], [93011048, 93011197], [93021082, 93021181], [93024187, 93024277], [93031394, 93031454], [93038025, 93044088]] [[92982628, 92982740], [93000240, 93000337], [93008261, 93008317], [93008421, 93008481], [93011048, 93011197], [93021082, 93021181], [93024187, 93024277], [93031394, 93031454], [93038025, 93038073]]
Promoter
Chrom Start End Description
chr10 92922581 92922624 CAGE_peak_5_at_PCGF5_5end
chr10 92922625 92922667 CAGE_peak_6_at_PCGF5_5end
chr10 92922717 92922835 CAGE_peak_1_at_PCGF5_5end
chr10 92980343 92980348 CAGE_peak_17_at_PCGF5_5end
chr10 92980351 92980360 CAGE_peak_9_at_PCGF5_5end
chr10 92980361 92980398 CAGE_peak_4_at_PCGF5_5end
chr10 92980399 92980458 CAGE_peak_2_at_PCGF5_5end
chr10 92980468 92980485 CAGE_peak_7_at_PCGF5_5end
chr10 92980517 92980550 CAGE_peak_3_at_PCGF5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I091161 91161684 91165406 2.2 [{'connected_gene': 'PCGF5', 'score': 550.77}, {'connected_gene': 'BTAF1', 'score': 15.59}, {'connected_gene': 'TNKS2', 'score': 12.41}, {'connected_gene': 'NUDT9P1', 'score': 6.74}, {'connected_gene': 'HECTD2', 'score': 1.83}, {'connected_gene': 'PIR60971', 'score': 0.28}]
chr10 GH10I091219 91219013 91222533 2.21 [{'connected_gene': 'PCGF5', 'score': 550.22}, {'connected_gene': 'BTAF1', 'score': 15.59}, {'connected_gene': 'TNKS2', 'score': 12.41}, {'connected_gene': 'PIR60971', 'score': 0.37}, {'connected_gene': 'GC10P091282', 'score': 0.21}]
chr10 GH10I091169 91169009 91169177 0.23 [{'connected_gene': 'PCGF5', 'score': 0.44}, {'connected_gene': 'PIR60971', 'score': 0.29}]
chr10 GH10I091206 91206533 91206913 0.59 [{'connected_gene': 'NUDT9P1', 'score': 7.03}, {'connected_gene': 'PIR60971', 'score': 0.44}, {'connected_gene': 'PCGF5', 'score': 0.26}, {'connected_gene': 'GC10P091282', 'score': 0.18}]
chr10 GH10I091214 91214365 91214468 0.22 [{'connected_gene': 'PIR60971', 'score': 0.39}, {'connected_gene': 'PCGF5', 'score': 0.23}, {'connected_gene': 'GC10P091282', 'score': 0.2}]
chr10 GH10I091189 91189926 91191871 0.8 [{'connected_gene': 'PIR60971', 'score': 0.39}, {'connected_gene': 'PCGF5', 'score': 0.31}]
chr10 GH10I091184 91184802 91185803 0.63 [{'connected_gene': 'PIR60971', 'score': 0.37}, {'connected_gene': 'PCGF5', 'score': 0.34}]
chr10 GH10I091223 91223401 91224000 0.43 [{'connected_gene': 'PIR60971', 'score': 0.34}, {'connected_gene': 'GC10P091282', 'score': 0.22}, {'connected_gene': 'PCGF5', 'score': 0.21}]
chr10 GH10I091210 91210063 91211072 0.57 [{'connected_gene': 'PIR60971', 'score': 0.44}, {'connected_gene': 'PCGF5', 'score': 0.25}, {'connected_gene': 'GC10P091282', 'score': 0.19}]
chr10 GH10I091215 91215501 91215538 0.48 [{'connected_gene': 'PIR60971', 'score': 0.39}, {'connected_gene': 'PCGF5', 'score': 0.23}, {'connected_gene': 'GC10P091282', 'score': 0.2}]
chr10 GH10I091251 91251564 91251713 0.65 [{'connected_gene': 'GC10P091282', 'score': 0.29}, {'connected_gene': 'PIR60971', 'score': 0.25}, {'connected_gene': 'PCGF5', 'score': 0.17}]
chr10 GH10I091198 91197200 91197400 0.31 [{'connected_gene': 'PIR60971', 'score': 0.77}, {'connected_gene': 'PCGF5', 'score': 0.29}]
chr10 GH10I091197 91197918 91203285 1.02 [{'connected_gene': 'PIR60971', 'score': 550.77}, {'connected_gene': 'NUDT9P1', 'score': 7.15}, {'connected_gene': 'ANKRD1', 'score': 5.45}, {'connected_gene': 'PCGF5', 'score': 0.28}]