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
ENST00000369704 [[106113521, 106113664], [106118098, 106118380], [106121780, 106121929], [106124490, 106124647], [106125571, 106125766], [106128180, 106128318], [106130652, 106130812], [106136568, 106136651], [106139786, 106139978], [106151990, 106152152], [106153086, 106153233], [106159117, 106159258], [106160437, 106160661], [106163486, 106163598], [106166446, 106166551], [106207455, 106207575], [106209828, 106209962], [106214179, 106214848]] [[106113655, 106113664], [106118098, 106118380], [106121780, 106121929], [106124490, 106124647], [106125571, 106125766], [106128180, 106128318], [106130652, 106130812], [106136568, 106136651], [106139786, 106139978], [106151990, 106152152], [106153086, 106153233], [106159117, 106159258], [106160437, 106160661], [106163486, 106163598], [106166446, 106166551], [106207455, 106207575], [106209828, 106209962], [106214179, 106214288]]
ENST00000312902 [[106113533, 106113664], [106118098, 106118380], [106121780, 106121929], [106124490, 106124647], [106125571, 106125766], [106128180, 106128318], [106130652, 106130812], [106136568, 106136651], [106139786, 106139978], [106141883, 106141931]] [[106136612, 106136651], [106139786, 106139978], [106141883, 106141931]]
ENST00000369703 [[106136612, 106136651], [106139786, 106139978], [106141883, 106142118]] [[106136612, 106136651], [106139786, 106139978], [106141883, 106141931]]
NM_001008723 [[106113521, 106113664], [106118098, 106118380], [106121780, 106121929], [106124490, 106124647], [106125571, 106125766], [106128180, 106128318], [106130652, 106130812], [106136568, 106136651], [106139786, 106139978], [106151990, 106152152], [106153086, 106153233], [106159117, 106159258], [106160437, 106160661], [106163486, 106163598], [106166446, 106166551], [106207455, 106207575], [106209828, 106209962], [106214179, 106214848]] [[106113655, 106113664], [106118098, 106118380], [106121780, 106121929], [106124490, 106124647], [106125571, 106125766], [106128180, 106128318], [106130652, 106130812], [106136568, 106136651], [106139786, 106139978], [106151990, 106152152], [106153086, 106153233], [106159117, 106159258], [106160437, 106160661], [106163486, 106163598], [106166446, 106166551], [106207455, 106207575], [106209828, 106209962], [106214179, 106214288]]
Promoter
Chrom Start End Description
chr10 106113515 106113527 CAGE_peak_2_at_CCDC147_5end
chr10 106113583 106113597 CAGE_peak_1_at_CCDC147_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I104249 104249941 104257493 2.29 [{'connected_gene': 'GSTO1', 'score': 566.67}, {'connected_gene': 'GSTO2', 'score': 29.19}, {'connected_gene': 'ENSG00000260461', 'score': 19.75}, {'connected_gene': 'PDCD11', 'score': 11.74}, {'connected_gene': 'CFAP58', 'score': 10.78}, {'connected_gene': 'CFAP58-AS1', 'score': 10.76}, {'connected_gene': 'GC10M104249', 'score': 0.77}, {'connected_gene': 'MIR4482', 'score': 0.39}]
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 GH10I104066 104066948 104068000 0.76 [{'connected_gene': 'CFAP58', 'score': 4.96}, {'connected_gene': 'GC10M104086', 'score': 0.37}, {'connected_gene': 'GC10M104085', 'score': 0.37}, {'connected_gene': 'COL17A1', 'score': 0.37}, {'connected_gene': 'MIR936', 'score': 0.37}]
chr10 GH10I104080 104080340 104087035 1.5 [{'connected_gene': 'COL17A1', 'score': 550.77}, {'connected_gene': 'CFAP43', 'score': 6.34}, {'connected_gene': 'CFAP58', 'score': 5.05}, {'connected_gene': 'GC10M104086', 'score': 0.77}, {'connected_gene': 'GC10M104085', 'score': 0.77}, {'connected_gene': 'MIR936', 'score': 0.28}]
chr10 GH10I104089 104089674 104089971 0.48 [{'connected_gene': 'SFR1', 'score': 59.98}, {'connected_gene': 'GSTO1', 'score': 5.77}, {'connected_gene': 'CFAP58', 'score': 5.6}, {'connected_gene': 'SLK', 'score': 1.78}, {'connected_gene': 'COL17A1', 'score': 0.77}]
chr10 GH10I104109 104109362 104110946 1.45 [{'connected_gene': 'SFR1', 'score': 42.77}, {'connected_gene': 'COL17A1', 'score': 11.61}, {'connected_gene': 'MIR936', 'score': 11.17}, {'connected_gene': 'STN1', 'score': 10.59}, {'connected_gene': 'CFAP43', 'score': 8.04}, {'connected_gene': 'GSTO1', 'score': 6.52}, {'connected_gene': 'CFAP58', 'score': 5.41}, {'connected_gene': 'SLK', 'score': 1.47}]
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 GH10I104274 104274315 104276005 1.83 [{'connected_gene': 'GSTO2', 'score': 590.11}, {'connected_gene': 'GSTO1', 'score': 16.51}, {'connected_gene': 'ENSG00000260461', 'score': 13.28}, {'connected_gene': 'PDCD11', 'score': 12.97}, {'connected_gene': 'CFAP58', 'score': 12.17}, {'connected_gene': 'CFAP58-AS1', 'score': 12.14}, {'connected_gene': 'GC10P104302', 'score': 0.31}]
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 GH10I104229 104229802 104229999 0.2 [{'connected_gene': 'GSTO2', 'score': 14.3}, {'connected_gene': 'CFAP58', 'score': 9.72}, {'connected_gene': 'CFAP58-AS1', 'score': 9.71}, {'connected_gene': 'CFAP43', 'score': 0.77}, {'connected_gene': 'MIR609', 'score': 0.39}]
chr10 GH10I104267 104267129 104269928 2.13 [{'connected_gene': 'GSTO2', 'score': 584.81}, {'connected_gene': 'MIR4482', 'score': 550.77}, {'connected_gene': 'PDCD11', 'score': 30.74}, {'connected_gene': 'TAF5', 'score': 16.83}, {'connected_gene': 'GSTO1', 'score': 16.6}, {'connected_gene': 'PCGF6', 'score': 14.25}, {'connected_gene': 'CFAP58', 'score': 10.76}, {'connected_gene': 'CFAP58-AS1', 'score': 10.74}, {'connected_gene': 'GC10P104302', 'score': 0.29}]
chr10 GH10I104449 104449401 104449893 0.53 [{'connected_gene': 'LOC101927523', 'score': 0.29}, {'connected_gene': 'GC10P104364', 'score': 0.18}, {'connected_gene': 'CFAP58', 'score': 0.14}]
chr10 GH10I104424 104424627 104425432 0.54 [{'connected_gene': 'LOC101927523', 'score': 0.22}, {'connected_gene': 'GC10P104364', 'score': 0.21}, {'connected_gene': 'CFAP58', 'score': 0.17}]
chr10 GH10I104441 104441203 104442285 0.54 [{'connected_gene': 'LOC101927523', 'score': 0.28}, {'connected_gene': 'GC10P104364', 'score': 0.18}, {'connected_gene': 'CFAP58', 'score': 0.15}]
chr10 GH10I104444 104444967 104446297 0.59 [{'connected_gene': 'LOC101927523', 'score': 0.29}, {'connected_gene': 'GC10P104364', 'score': 0.18}, {'connected_gene': 'CFAP58', 'score': 0.14}]
chr10 GH10I104435 104435943 104436112 0.2 [{'connected_gene': 'LOC101927523', 'score': 0.26}, {'connected_gene': 'GC10P104364', 'score': 0.19}, {'connected_gene': 'CFAP58', 'score': 0.15}]
chr10 GH10I104417 104417496 104418155 0.63 [{'connected_gene': 'CFAP58-AS1', 'score': 10.73}, {'connected_gene': 'CFAP58', 'score': 10.7}, {'connected_gene': 'GC10P104364', 'score': 0.23}, {'connected_gene': 'LOC101927523', 'score': 0.21}]
chr10 GH10I104378 104378911 104378922 0.25 [{'connected_gene': 'CFAP58-AS1', 'score': 11.05}, {'connected_gene': 'CFAP58', 'score': 11.0}, {'connected_gene': 'GC10P104364', 'score': 0.39}, {'connected_gene': 'LOC101927523', 'score': 0.15}]
chr10 GH10I104344 104344764 104344892 0.2 [{'connected_gene': 'CFAP58-AS1', 'score': 0.44}, {'connected_gene': 'CFAP58', 'score': 0.44}]
chr10 GH10I104069 104069183 104070488 0.52 [{'connected_gene': 'MIR936', 'score': 11.57}, {'connected_gene': 'CFAP43', 'score': 6.23}, {'connected_gene': 'GSTO2', 'score': 5.74}, {'connected_gene': 'CFAP58', 'score': 5.08}, {'connected_gene': 'GC10M104086', 'score': 0.37}, {'connected_gene': 'GC10M104085', 'score': 0.37}, {'connected_gene': 'COL17A1', 'score': 0.37}]
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}]