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
ENST00000337478 [[106071893, 106075822], [106098003, 106098162]] [[106074165, 106075809]]
ENST00000278071 [[106071900, 106075822], [106093095, 106093256], [106093384, 106093663]] [[106074165, 106075809]]
ENST00000358187 [[106071901, 106075822], [106088622, 106088682]] [[106074165, 106075809]]
ENST00000458723 [[106075466, 106075822], [106093095, 106093256], [106093384, 106093663]] [[106075466, 106075809]]
NM_001272012 [[106069453, 106075822], [106088622, 106088750]] [[106074165, 106075809]]
NM_033397 [[106069453, 106075822], [106093095, 106093256], [106093384, 106093663]] [[106074165, 106075809]]
NM_001272013 [[106069453, 106075822], [106098003, 106098251]] [[106074165, 106075809]]
Promoter
Chrom Start End Description
chr10 106093192 106093215 CAGE_peak_11_at_ITPRIP_5end
chr10 106098163 106098181 CAGE_peak_2_at_ITPRIP_5end
chr10 106098189 106098232 CAGE_peak_1_at_ITPRIP_5end
chr10 106098442 106098447 CAGE_peak_3_at_ITPRIP_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I103569 103569275 103573848 0.83 [{'connected_gene': 'NEURL1', 'score': 5.38}, {'connected_gene': 'NEURL1-AS1', 'score': 4.31}, {'connected_gene': 'ITPRIP', 'score': 4.16}, {'connected_gene': 'GC10P103582', 'score': 0.39}, {'connected_gene': 'ENSG00000226431', 'score': 0.34}]
chr10 GH10I103563 103563368 103566032 0.65 [{'connected_gene': 'ITPRIP', 'score': 4.98}, {'connected_gene': 'NEURL1', 'score': 4.11}, {'connected_gene': 'SFXN2', 'score': 4.05}, {'connected_gene': 'ENSG00000226431', 'score': 0.37}, {'connected_gene': 'GC10P103582', 'score': 0.37}]
chr10 GH10I104342 104342163 104344557 0.89 [{'connected_gene': 'ITPRIP', 'score': 25.46}, {'connected_gene': 'CFAP58', 'score': 0.77}, {'connected_gene': 'CFAP58-AS1', 'score': 0.39}]
chr10 GH10I104345 104345543 104346352 1.09 [{'connected_gene': 'ITPRIP', 'score': 23.75}, {'connected_gene': 'SFR1', 'score': 5.82}, {'connected_gene': 'GSTO1', 'score': 3.94}, {'connected_gene': 'CFAP58', 'score': 3.66}, {'connected_gene': 'CFAP58-AS1', 'score': 0.44}]
chr10 GH10I104316 104316368 104341174 2.81 [{'connected_gene': 'ITPRIP', 'score': 578.89}, {'connected_gene': 'GSTO2', 'score': 20.11}, {'connected_gene': 'PDCD11', 'score': 19.85}, {'connected_gene': 'CFAP58', 'score': 18.41}, {'connected_gene': 'SFR1', 'score': 15.41}, {'connected_gene': 'CFAP58-AS1', 'score': 12.26}, {'connected_gene': 'PCGF6', 'score': 10.39}, {'connected_gene': 'TAF5', 'score': 10.36}, {'connected_gene': 'ENSG00000260461', 'score': 10.23}, {'connected_gene': 'GSTO1', 'score': 9.75}, {'connected_gene': 'SLK', 'score': 3.03}, {'connected_gene': 'LOC101927472', 'score': 0.44}]
chr10 GH10I104347 104347048 104348179 0.92 [{'connected_gene': 'ITPRIP', 'score': 24.3}, {'connected_gene': 'CFAP58-AS1', 'score': 0.44}, {'connected_gene': 'CFAP58', 'score': 0.44}]
chr10 GH10I104348 104348741 104354232 2.53 [{'connected_gene': 'CFAP58', 'score': 575.17}, {'connected_gene': 'ITPRIP', 'score': 27.03}, {'connected_gene': 'PDCD11', 'score': 11.74}, {'connected_gene': 'ENSG00000260461', 'score': 10.23}, {'connected_gene': 'SFR1', 'score': 4.21}, {'connected_gene': 'GSTO1', 'score': 2.05}, {'connected_gene': 'SLK', 'score': 1.73}, {'connected_gene': 'CFAP58-AS1', 'score': 0.77}]
chr10 GH10I104258 104258914 104261909 1.46 [{'connected_gene': 'GSTO2', 'score': 35.57}, {'connected_gene': 'GSTO1', 'score': 23.89}, {'connected_gene': 'MIR609', 'score': 10.65}, {'connected_gene': 'SFR1', 'score': 7.72}, {'connected_gene': 'SLK', 'score': 3.56}, {'connected_gene': 'CFAP58', 'score': 3.53}, {'connected_gene': 'ITPRIP', 'score': 1.24}, {'connected_gene': 'GC10M104249', 'score': 0.44}, {'connected_gene': 'MIR4482', 'score': 0.44}]
chr10 GH10I104242 104242732 104244361 0.68 [{'connected_gene': 'GSTO2', 'score': 15.32}, {'connected_gene': 'MIR609', 'score': 10.98}, {'connected_gene': 'ITPRIP', 'score': 10.19}, {'connected_gene': 'GSTO1', 'score': 0.44}, {'connected_gene': 'GC10M104249', 'score': 0.44}]
chr10 GH10I104303 104303239 104309332 1.27 [{'connected_gene': 'GSTO2', 'score': 19.91}, {'connected_gene': 'CFAP58', 'score': 12.6}, {'connected_gene': 'CFAP58-AS1', 'score': 12.55}, {'connected_gene': 'ITPRIP', 'score': 12.46}, {'connected_gene': 'GSTO1', 'score': 6.21}, {'connected_gene': 'GC10P104302', 'score': 0.77}, {'connected_gene': 'ENSG00000270075', 'score': 0.44}]
chr10 GH10I104296 104296758 104302741 1.14 [{'connected_gene': 'GSTO2', 'score': 17.71}, {'connected_gene': 'CFAP58', 'score': 12.27}, {'connected_gene': 'CFAP58-AS1', 'score': 12.23}, {'connected_gene': 'ITPRIP', 'score': 11.85}, {'connected_gene': 'GSTO1', 'score': 7.29}, {'connected_gene': 'GC10P104302', 'score': 0.77}]
chr10 GH10I104279 104279186 104279564 0.38 [{'connected_gene': 'GSTO2', 'score': 40.56}, {'connected_gene': 'CFAP58', 'score': 12.18}, {'connected_gene': 'CFAP58-AS1', 'score': 12.15}, {'connected_gene': 'ITPRIP', 'score': 11.28}, {'connected_gene': 'GSTO1', 'score': 6.57}, {'connected_gene': 'GC10P104302', 'score': 0.34}]
chr10 GH10I104314 104314983 104315132 0.4 [{'connected_gene': 'PIR55256', 'score': 550.77}, {'connected_gene': 'ITPRIP', 'score': 12.46}, {'connected_gene': 'CFAP58', 'score': 11.9}, {'connected_gene': 'CFAP58-AS1', 'score': 11.84}, {'connected_gene': 'LOC101927472', 'score': 0.44}]
chr10 GH10I104302 104302954 104303235 0.58 [{'connected_gene': 'GC10P104302', 'score': 550.77}, {'connected_gene': 'CFAP58', 'score': 12.58}, {'connected_gene': 'CFAP58-AS1', 'score': 12.54}, {'connected_gene': 'ITPRIP', 'score': 11.35}, {'connected_gene': 'ENSG00000270075', 'score': 0.44}, {'connected_gene': 'GSTO2', 'score': 0.29}]
chr10 GH10I104309 104309482 104312021 0.86 [{'connected_gene': 'ENSG00000270075', 'score': 550.77}, {'connected_gene': 'GSTO2', 'score': 18.83}, {'connected_gene': 'ITPRIP', 'score': 12.93}, {'connected_gene': 'CFAP58', 'score': 12.47}, {'connected_gene': 'CFAP58-AS1', 'score': 12.42}, {'connected_gene': 'GC10P104302', 'score': 0.44}]