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
ENST00000263966 [[179370542, 179371181], [179399665, 179399791], [179408028, 179408089], [179418795, 179418917], [179424721, 179424864], [179426560, 179426745], [179437727, 179437822], [179439189, 179439377], [179447976, 179448048], [179448403, 179448497], [179458034, 179458160], [179459984, 179460138], [179462830, 179463005], [179470072, 179470161], [179472519, 179472642], [179474839, 179474866], [179478899, 179479043], [179481789, 179481956], [179483482, 179483636], [179499526, 179499611], [179501835, 179507189]] [[179371013, 179371181], [179399665, 179399791], [179408028, 179408089], [179418795, 179418917], [179424721, 179424864], [179426560, 179426745], [179437727, 179437822], [179439189, 179439377], [179447976, 179448048], [179448403, 179448497], [179458034, 179458160], [179459984, 179460138], [179462830, 179463005], [179470072, 179470161], [179472519, 179472642], [179474839, 179474866], [179478899, 179479043], [179481789, 179481956], [179483482, 179483636], [179499526, 179499611], [179501835, 179501929]]
ENST00000482333 [[179370837, 179371181], [179399665, 179399791], [179408028, 179408089], [179418795, 179418917], [179424721, 179424864], [179426560, 179426745], [179437727, 179437822], [179439189, 179439377], [179447976, 179448048], [179448403, 179448497], [179458034, 179458160], [179459984, 179460138], [179462830, 179462898], [179472540, 179472642], [179474839, 179474925]] None
ENST00000496897 [[179371480, 179371538], [179399665, 179399791], [179408028, 179408089], [179418795, 179418917], [179424721, 179424864], [179426560, 179426745], [179437727, 179437822], [179439189, 179439377], [179447976, 179448048], [179448403, 179448497], [179458034, 179458160], [179459984, 179460138], [179462830, 179463005], [179470072, 179470161], [179472519, 179472642], [179474839, 179474866], [179478899, 179479043], [179481789, 179481956], [179483482, 179483636], [179499526, 179499611], [179501835, 179502194]] [[179399692, 179399791], [179408028, 179408089], [179418795, 179418917], [179424721, 179424864], [179426560, 179426745], [179437727, 179437822], [179439189, 179439377], [179447976, 179448048], [179448403, 179448497], [179458034, 179458160], [179459984, 179460138], [179462830, 179463005], [179470072, 179470161], [179472519, 179472642], [179474839, 179474866], [179478899, 179479043], [179481789, 179481956], [179483482, 179483636], [179499526, 179499611], [179501835, 179501929]]
ENST00000497380 [[179371085, 179371181], [179399665, 179399791], [179418795, 179418917], [179424721, 179424864], [179426560, 179426582]] [[179371085, 179371181], [179399665, 179399791], [179418795, 179418801]]
ENST00000497155 [[179439351, 179439377], [179447976, 179448048], [179448403, 179448497], [179458034, 179458160], [179459984, 179460138], [179462830, 179463005], [179470072, 179470161], [179472519, 179472642], [179478899, 179478939]] [[179439351, 179439377], [179447976, 179448048], [179448403, 179448497], [179458034, 179458160], [179459984, 179460138], [179462830, 179463005], [179470072, 179470161], [179472519, 179472642], [179478899, 179478939]]
NM_003940 [[179370932, 179371181], [179399665, 179399791], [179408028, 179408089], [179418795, 179418917], [179424721, 179424864], [179426560, 179426745], [179437727, 179437822], [179439189, 179439377], [179447976, 179448048], [179448403, 179448497], [179458034, 179458160], [179459984, 179460138], [179462830, 179463005], [179470072, 179470161], [179472519, 179472642], [179474839, 179474866], [179478899, 179479043], [179481789, 179481956], [179483482, 179483636], [179499526, 179499611], [179501835, 179507189]] [[179371013, 179371181], [179399665, 179399791], [179408028, 179408089], [179418795, 179418917], [179424721, 179424864], [179426560, 179426745], [179437727, 179437822], [179439189, 179439377], [179447976, 179448048], [179448403, 179448497], [179458034, 179458160], [179459984, 179460138], [179462830, 179463005], [179470072, 179470161], [179472519, 179472642], [179474839, 179474866], [179478899, 179479043], [179481789, 179481956], [179483482, 179483636], [179499526, 179499611], [179501835, 179501929]]
Promoter
Chrom Start End Description
chr3 179370517 179370531 CAGE_peak_2_at_USP13_5end
chr3 179370745 179370756 CAGE_peak_4_at_USP13_5end
chr3 179370820 179370912 CAGE_peak_1_at_USP13_5end
chr3 179370919 179370938 CAGE_peak_3_at_USP13_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I179652 179652141 179655397 1.96 [{'connected_gene': 'USP13', 'score': 556.33}, {'connected_gene': 'GNB4', 'score': 4.54}, {'connected_gene': 'GC03M179795', 'score': 0.11}]
chr3 GH03I179608 179608479 179609723 0.77 [{'connected_gene': 'USP13', 'score': 10.86}, {'connected_gene': 'MRPL47', 'score': 7.14}, {'connected_gene': 'NDUFB5', 'score': 6.51}, {'connected_gene': 'ENSG00000239096', 'score': 0.44}]
chr3 GH03I179591 179591265 179591643 0.27 [{'connected_gene': 'USP13', 'score': 9.93}, {'connected_gene': 'ENSG00000272660', 'score': 0.44}, {'connected_gene': 'MRPL47', 'score': 0.39}]
chr3 GH03I179928 179927651 179931613 0.56 [{'connected_gene': 'USP13', 'score': 9.77}, {'connected_gene': 'PEX5L', 'score': 5.37}, {'connected_gene': 'PEX5L-AS2', 'score': 0.29}, {'connected_gene': 'GC03M180001', 'score': 0.19}]
chr3 GH03I179964 179964347 179968274 0.49 [{'connected_gene': 'USP13', 'score': 9.64}, {'connected_gene': 'PEX5L-AS1', 'score': 9.6}, {'connected_gene': 'GC03M180001', 'score': 0.29}, {'connected_gene': 'PEX5L-AS2', 'score': 0.2}, {'connected_gene': 'PEX5L', 'score': 0.19}]
chr3 GH03I179754 179754142 179754524 0.35 [{'connected_gene': 'USP13', 'score': 10.06}, {'connected_gene': 'GC03M179795', 'score': 0.26}]
chr3 GH03I179712 179712895 179718743 0.74 [{'connected_gene': 'USP13', 'score': 15.46}, {'connected_gene': 'GC03M179795', 'score': 0.18}]
chr3 GH03I179669 179669925 179674508 0.83 [{'connected_gene': 'USP13', 'score': 6.0}, {'connected_gene': 'GC03M179795', 'score': 0.13}]
chr3 GH03I179680 179680586 179682119 0.66 [{'connected_gene': 'USP13', 'score': 17.5}, {'connected_gene': 'GC03M179795', 'score': 0.13}]
chr3 GH03I179729 179729144 179729394 0.22 [{'connected_gene': 'USP13', 'score': 5.37}, {'connected_gene': 'GC03M179795', 'score': 0.2}]
chr3 GH03I179720 179720273 179720422 0.52 [{'connected_gene': 'USP13', 'score': 11.17}, {'connected_gene': 'GC03M179795', 'score': 0.18}]
chr3 GH03I179710 179710193 179710342 0.2 [{'connected_gene': 'USP13', 'score': 11.14}, {'connected_gene': 'GC03M179795', 'score': 0.17}]
chr3 GH03I179738 179738881 179740622 0.87 [{'connected_gene': 'USP13', 'score': 17.11}, {'connected_gene': 'GC03M179795', 'score': 0.22}]
chr3 GH03I179697 179697601 179697800 0.2 [{'connected_gene': 'USP13', 'score': 11.29}, {'connected_gene': 'GC03M179795', 'score': 0.15}]
chr3 GH03I179732 179732147 179734080 0.84 [{'connected_gene': 'USP13', 'score': 6.96}, {'connected_gene': 'GC03M179795', 'score': 0.2}]
chr3 GH03I179665 179665922 179667190 0.59 [{'connected_gene': 'USP13', 'score': 0.39}, {'connected_gene': 'GC03M179795', 'score': 0.12}]
chr3 GH03I179706 179706175 179706923 0.46 [{'connected_gene': 'USP13', 'score': 4.82}, {'connected_gene': 'GC03M179795', 'score': 0.16}]
chr3 GH03I179661 179661156 179664158 0.74 [{'connected_gene': 'USP13', 'score': 0.44}, {'connected_gene': 'GC03M179795', 'score': 0.12}]
chr3 GH03I179603 179603388 179605805 2.03 [{'connected_gene': 'NDUFB5', 'score': 559.58}, {'connected_gene': 'MRPL47', 'score': 557.14}, {'connected_gene': 'TTC14', 'score': 12.09}, {'connected_gene': 'USP13', 'score': 10.94}, {'connected_gene': 'ACTL6A', 'score': 10.15}, {'connected_gene': 'MFN1', 'score': 10.07}, {'connected_gene': 'ENSG00000272660', 'score': 0.34}]
chr3 GH03I179626 179626740 179627826 0.38 [{'connected_gene': 'GC03P179625', 'score': 550.77}, {'connected_gene': 'USP13', 'score': 11.44}, {'connected_gene': 'NDUFB5', 'score': 8.76}, {'connected_gene': 'MRPL47', 'score': 5.77}, {'connected_gene': 'GC03P179640', 'score': 0.39}]
chr3 GH03I179612 179612868 179616059 0.86 [{'connected_gene': 'ENSG00000239096', 'score': 550.77}, {'connected_gene': 'USP13', 'score': 10.87}, {'connected_gene': 'NDUFB5', 'score': 9.69}]
chr3 GH03I179735 179735053 179735202 0.31 [{'connected_gene': 'GC03M179795', 'score': 0.21}, {'connected_gene': 'USP13', 'score': 0.18}]

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