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
ENST00000375835 [[91628059, 91628490], [91652907, 91653203], [91656940, 91657099], [91660660, 91660748], [91661758, 91661909], [91666951, 91667078], [91680443, 91680495], [91686113, 91686167], [91690023, 91690143], [91692754, 91692818], [91727470, 91727541], [91792901, 91793682]] [[91628361, 91628490], [91652907, 91653203], [91656940, 91657099], [91660660, 91660748], [91661758, 91661909], [91666951, 91667078], [91680443, 91680495], [91686113, 91686167], [91690023, 91690143], [91692754, 91692818], [91727470, 91727541], [91792901, 91793375]]
ENST00000375830 [[91652423, 91652441], [91652907, 91653203], [91656940, 91657099], [91660660, 91660748], [91661758, 91661909], [91666951, 91667078], [91680443, 91680495], [91686113, 91686167], [91690023, 91690143], [91692754, 91692818], [91727470, 91727541], [91792901, 91793682]] [[91652423, 91652441], [91652907, 91653203], [91656940, 91656944]]
ENST00000375831 [[91652280, 91652441], [91652907, 91653203], [91656940, 91657052]] [[91652423, 91652441], [91652907, 91653203], [91656940, 91656944]]
NM_016848 [[91620685, 91628490], [91652907, 91653203], [91656940, 91657099], [91660660, 91660748], [91661758, 91661909], [91666951, 91667078], [91680443, 91680495], [91686113, 91686167], [91690023, 91690143], [91692754, 91692818], [91727470, 91727541], [91792901, 91793682]] [[91628361, 91628490], [91652907, 91653203], [91656940, 91657099], [91660660, 91660748], [91661758, 91661909], [91666951, 91667078], [91680443, 91680495], [91686113, 91686167], [91690023, 91690143], [91692754, 91692818], [91727470, 91727541], [91792901, 91793375]]
Promoter
Chrom Start End Description
chr9 91792949 91792960 CAGE_peak_13_at_SHC3_5end
chr9 91793477 91793488 CAGE_peak_6_at_SHC3_5end
chr9 91793624 91793649 CAGE_peak_2_at_SHC3_5end
chr9 91793675 91793698 CAGE_peak_4_at_SHC3_5end
chr9 91793707 91793718 CAGE_peak_5_at_SHC3_5end
chr9 91793725 91793743 CAGE_peak_1_at_SHC3_5end
chr9 91793746 91793756 CAGE_peak_7_at_SHC3_5end
chr9 91793943 91793955 CAGE_peak_8_at_SHC3_5end
chr9 91793987 91794052 CAGE_peak_3_at_SHC3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I089518 89518345 89527800 1.53 [{'connected_gene': 'SECISBP2', 'score': 24.87}, {'connected_gene': 'SEMA4D', 'score': 18.41}, {'connected_gene': 'SHC3', 'score': 1.56}, {'connected_gene': 'LOC105376137', 'score': 0.77}]
chr9 GH09I089175 89175909 89181345 2.48 [{'connected_gene': 'SHC3', 'score': 567.8}, {'connected_gene': 'SECISBP2', 'score': 15.76}, {'connected_gene': 'C9orf47', 'score': 2.91}, {'connected_gene': 'ENSG00000224945', 'score': 0.2}]
chr9 GH09I089136 89136157 89140528 1.19 [{'connected_gene': 'SHC3', 'score': 27.17}, {'connected_gene': 'ENSG00000224945', 'score': 11.26}, {'connected_gene': 'CKS2', 'score': 5.44}]
chr9 GH09I089152 89152952 89156112 1.06 [{'connected_gene': 'SHC3', 'score': 22.91}, {'connected_gene': 'ENSG00000224945', 'score': 11.6}, {'connected_gene': 'CKS2', 'score': 6.51}]
chr9 GH09I089024 89024601 89026252 0.46 [{'connected_gene': 'SHC3', 'score': 5.2}, {'connected_gene': 'GC09M089006', 'score': 0.39}, {'connected_gene': 'ENSG00000224945', 'score': 0.18}]
chr9 GH09I089020 89020114 89024076 0.92 [{'connected_gene': 'SHC3', 'score': 5.32}, {'connected_gene': 'GC09M089006', 'score': 0.39}, {'connected_gene': 'ENSG00000224945', 'score': 0.17}]
chr9 GH09I089274 89274482 89275791 0.31 [{'connected_gene': 'SHC3', 'score': 4.6}, {'connected_gene': 'GC09M089309', 'score': 0.28}, {'connected_gene': 'PIR43267', 'score': 0.21}]
chr9 GH09I089174 89174068 89175094 0.2 [{'connected_gene': 'SHC3', 'score': 5.66}, {'connected_gene': 'ENSG00000224945', 'score': 0.21}]
chr9 GH09I089367 89367599 89371310 0.64 [{'connected_gene': 'CKS2', 'score': 11.81}, {'connected_gene': 'SEMA4D', 'score': 4.74}, {'connected_gene': 'SHC3', 'score': 4.3}, {'connected_gene': 'PIR43063', 'score': 0.39}, {'connected_gene': 'PA2G4P6', 'score': 0.18}]
chr9 GH09I089140 89140551 89141644 0.4 [{'connected_gene': 'ENSG00000224945', 'score': 15.39}, {'connected_gene': 'SHC3', 'score': 11.07}, {'connected_gene': 'PA2G4P6', 'score': 4.27}]
chr9 GH09I089026 89026986 89027135 0.31 [{'connected_gene': 'GC09M089006', 'score': 0.37}, {'connected_gene': 'ENSG00000224945', 'score': 0.18}, {'connected_gene': 'SHC3', 'score': 0.1}]
chr9 GH09I089079 89079006 89079135 0.43 [{'connected_gene': 'ENSG00000224945', 'score': 0.29}, {'connected_gene': 'GC09M089006', 'score': 0.2}, {'connected_gene': 'SHC3', 'score': 0.15}]
chr9 GH09I089116 89116106 89116315 0.38 [{'connected_gene': 'ENSG00000224945', 'score': 0.44}, {'connected_gene': 'SHC3', 'score': 0.2}]
chr9 GH09I089036 89036001 89039371 0.86 [{'connected_gene': 'ENSG00000224945', 'score': 5.74}, {'connected_gene': 'SEMA4D', 'score': 5.34}, {'connected_gene': 'SECISBP2', 'score': 4.77}, {'connected_gene': 'SHC3', 'score': 2.85}, {'connected_gene': 'C9orf47', 'score': 1.57}, {'connected_gene': 'GC09M089006', 'score': 0.31}]