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
ENST00000539001 [[167559901, 167560143], [167562877, 167562972], [167577888, 167578048], [167578696, 167578796]] None
ENST00000486697 [[167562967, 167562972], [167563444, 167563561], [167577888, 167578048], [167585631, 167585765]] [[167585632, 167585765]]
ENST00000366832 [[167584080, 167584210], [167585631, 167585776], [167587240, 167587456], [167590484, 167590622], [167591871, 167592030], [167592498, 167592610], [167594120, 167594221], [167595212, 167596396]] [[167585632, 167585776], [167587240, 167587456], [167590484, 167590622], [167591871, 167592030], [167592498, 167592610], [167594120, 167594221], [167595212, 167595404]]
ENST00000283507 [[167584135, 167584210], [167585631, 167585776], [167587240, 167587456], [167590484, 167590622], [167591871, 167592030], [167592498, 167592610], [167594120, 167594221], [167608864, 167608982], [167609977, 167610401]] [[167585632, 167585776], [167587240, 167587456], [167590484, 167590622], [167591871, 167592030], [167592498, 167592610], [167594120, 167594221], [167608864, 167608918]]
ENST00000382669 [[167584145, 167584210], [167585631, 167586297]] None
ENST00000464222 [[167584158, 167584210], [167590484, 167590622], [167591871, 167592248]] None
ENST00000473271 [[167607115, 167607267], [167608864, 167608982], [167609977, 167610393]] None
NM_001145121 [[167584080, 167584210], [167585631, 167585776], [167587240, 167587456], [167590484, 167590622], [167591871, 167592030], [167592498, 167592610], [167594120, 167594221], [167595212, 167596396]] [[167585632, 167585776], [167587240, 167587456], [167590484, 167590622], [167591871, 167592030], [167592498, 167592610], [167594120, 167594221], [167595212, 167595404]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I167127 167127668 167128426 0.74 [{'connected_gene': 'RNASET2', 'score': 21.22}, {'connected_gene': 'ENSG00000249141', 'score': 10.6}, {'connected_gene': 'LOC105378122', 'score': 0.44}, {'connected_gene': 'TCP10L2', 'score': 0.37}, {'connected_gene': 'CCR6', 'score': 0.37}, {'connected_gene': 'LOC105378124', 'score': 0.37}, {'connected_gene': 'ENSG00000272980', 'score': 0.13}]
chr6 GH06I167124 167124673 167124822 0.69 [{'connected_gene': 'RNASET2', 'score': 10.61}, {'connected_gene': 'ENSG00000249141', 'score': 10.61}, {'connected_gene': 'LOC105378122', 'score': 0.77}, {'connected_gene': 'CCR6', 'score': 0.39}, {'connected_gene': 'TCP10L2', 'score': 0.34}, {'connected_gene': 'LOC105378124', 'score': 0.34}, {'connected_gene': 'ENSG00000272980', 'score': 0.13}]
chr6 GH06I167126 167126153 167126874 0.2 [{'connected_gene': 'RNASET2', 'score': 20.89}, {'connected_gene': 'ENSG00000249141', 'score': 10.6}, {'connected_gene': 'LOC105378122', 'score': 0.77}, {'connected_gene': 'CCR6', 'score': 0.39}, {'connected_gene': 'TCP10L2', 'score': 0.37}, {'connected_gene': 'LOC105378124', 'score': 0.37}, {'connected_gene': 'ENSG00000272980', 'score': 0.13}]
chr6 GH06I167233 167232957 167233883 0.31 [{'connected_gene': 'UNC93A', 'score': 12.81}, {'connected_gene': 'LOC102724220', 'score': 7.84}, {'connected_gene': 'TCP10L2', 'score': 6.09}, {'connected_gene': 'LOC102725048', 'score': 0.44}, {'connected_gene': 'ENSG00000280707', 'score': 0.44}]
chr6 GH06I167146 167146453 167147608 0.69 [{'connected_gene': 'TCP10L2', 'score': 555.88}, {'connected_gene': 'LOC105378124', 'score': 550.77}, {'connected_gene': 'CCR6', 'score': 11.5}, {'connected_gene': 'LOC105378120', 'score': 11.33}, {'connected_gene': 'FGFR1OP', 'score': 11.33}, {'connected_gene': 'RNASET2', 'score': 10.95}, {'connected_gene': 'ENSG00000249141', 'score': 10.95}, {'connected_gene': 'GPR31', 'score': 0.39}]
chr6 GH06I167150 167150820 167154259 1.53 [{'connected_gene': 'GPR31', 'score': 24.6}, {'connected_gene': 'RNASET2', 'score': 13.67}, {'connected_gene': 'CCR6', 'score': 11.49}, {'connected_gene': 'FGFR1OP', 'score': 11.32}, {'connected_gene': 'LOC105378120', 'score': 11.32}, {'connected_gene': 'ENSG00000249141', 'score': 10.95}, {'connected_gene': 'UNC93A', 'score': 10.19}, {'connected_gene': 'RPS6KA2-AS1', 'score': 9.98}, {'connected_gene': 'RPS6KA2', 'score': 9.98}, {'connected_gene': 'AFDN', 'score': 4.46}, {'connected_gene': 'TCP10L2', 'score': 0.44}, {'connected_gene': 'LOC105378124', 'score': 0.44}]
chr6 GH06I167166 167166397 167166548 0.36 [{'connected_gene': 'GPR31', 'score': 15.13}, {'connected_gene': 'RNASET2', 'score': 1.19}, {'connected_gene': 'LOC105378123', 'score': 0.77}, {'connected_gene': 'TCP10L2', 'score': 0.34}, {'connected_gene': 'LOC105378124', 'score': 0.34}]
chr6 GH06I167162 167162447 167164186 0.72 [{'connected_gene': 'GPR31', 'score': 0.77}, {'connected_gene': 'LOC105378123', 'score': 0.44}, {'connected_gene': 'TCP10L2', 'score': 0.37}, {'connected_gene': 'LOC105378124', 'score': 0.37}]
chr6 GH06I167141 167140793 167140942 0.74 [{'connected_gene': 'CCR6', 'score': 11.79}, {'connected_gene': 'LOC105378120', 'score': 11.07}, {'connected_gene': 'FGFR1OP', 'score': 11.07}, {'connected_gene': 'TCP10L2', 'score': 0.44}, {'connected_gene': 'LOC105378124', 'score': 0.44}, {'connected_gene': 'LOC105378122', 'score': 0.37}]
chr6 GH06I167142 167141213 167141362 0.98 [{'connected_gene': 'CCR6', 'score': 11.79}, {'connected_gene': 'LOC105378120', 'score': 11.07}, {'connected_gene': 'FGFR1OP', 'score': 11.07}, {'connected_gene': 'TCP10L2', 'score': 0.44}, {'connected_gene': 'LOC105378124', 'score': 0.44}, {'connected_gene': 'LOC105378122', 'score': 0.37}]
chr6 GH06I167140 167140988 167141200 0.95 [{'connected_gene': 'CCR6', 'score': 11.79}, {'connected_gene': 'LOC105378120', 'score': 11.07}, {'connected_gene': 'FGFR1OP', 'score': 11.07}, {'connected_gene': 'TCP10L2', 'score': 0.44}, {'connected_gene': 'LOC105378124', 'score': 0.44}, {'connected_gene': 'LOC105378122', 'score': 0.37}]
chr6 GH06I167143 167141474 167142942 1.05 [{'connected_gene': 'CCR6', 'score': 11.77}, {'connected_gene': 'LOC105378120', 'score': 11.07}, {'connected_gene': 'FGFR1OP', 'score': 11.07}, {'connected_gene': 'TCP10L2', 'score': 5.85}, {'connected_gene': 'LOC105378124', 'score': 0.77}, {'connected_gene': 'LOC105378122', 'score': 0.37}]
chr6 GH06I167136 167136015 167137132 0.2 [{'connected_gene': 'CCR6', 'score': 11.89}, {'connected_gene': 'LOC105378120', 'score': 11.37}, {'connected_gene': 'FGFR1OP', 'score': 11.37}, {'connected_gene': 'GPR31', 'score': 11.3}, {'connected_gene': 'TCP10L2', 'score': 0.44}, {'connected_gene': 'LOC105378124', 'score': 0.44}, {'connected_gene': 'LOC105378122', 'score': 0.39}, {'connected_gene': 'ENSG00000272980', 'score': 0.12}]
chr6 GH06I167129 167129191 167131911 1.13 [{'connected_gene': 'FGFR1OP', 'score': 11.36}, {'connected_gene': 'LOC105378120', 'score': 11.36}, {'connected_gene': 'GPR31', 'score': 11.25}, {'connected_gene': 'RPS6KA2-AS1', 'score': 9.74}, {'connected_gene': 'RPS6KA2', 'score': 9.74}, {'connected_gene': 'RNASET2', 'score': 9.67}, {'connected_gene': 'LOC105378122', 'score': 0.44}, {'connected_gene': 'TCP10L2', 'score': 0.37}, {'connected_gene': 'CCR6', 'score': 0.37}, {'connected_gene': 'LOC105378124', 'score': 0.37}, {'connected_gene': 'ENSG00000272980', 'score': 0.12}]
chr6 GH06I167170 167170570 167170629 0.5 [{'connected_gene': 'LOC105378123', 'score': 550.77}, {'connected_gene': 'TCP10L2', 'score': 550.34}, {'connected_gene': 'PIR32108', 'score': 0.77}]
chr6 GH06I167167 167167898 167168156 0.29 [{'connected_gene': 'LOC105378123', 'score': 550.77}, {'connected_gene': 'GPR31', 'score': 10.09}, {'connected_gene': 'RNASET2', 'score': 1.53}, {'connected_gene': 'TCP10L2', 'score': 0.34}, {'connected_gene': 'LOC105378124', 'score': 0.34}]