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
ENST00000366847 [[167412669, 167413002], [167413547, 167413601], [167416680, 167416735], [167417210, 167417299], [167417751, 167417889], [167424300, 167424381], [167426995, 167427055], [167435896, 167436123], [167438269, 167438382], [167440034, 167440103], [167446090, 167446130], [167447362, 167447459], [167453391, 167466201]] [[167412900, 167413002], [167413547, 167413601], [167416680, 167416735], [167417210, 167417299], [167417751, 167417889], [167424300, 167424381], [167426995, 167427055], [167435896, 167436123], [167438269, 167438382], [167440034, 167440103], [167446090, 167446130], [167447362, 167447459], [167453391, 167453466]]
ENST00000349556 [[167412895, 167413002], [167413547, 167413601], [167416680, 167416735], [167417210, 167417299], [167417751, 167417889], [167424300, 167424381], [167435896, 167436123], [167438269, 167438382], [167440034, 167440103], [167446090, 167446130], [167447362, 167447459], [167453391, 167453805]] [[167412900, 167413002], [167413547, 167413601], [167416680, 167416735], [167417210, 167417299], [167417751, 167417889], [167424300, 167424381], [167435896, 167436123], [167438269, 167438382], [167440034, 167440103], [167446090, 167446130], [167447362, 167447459], [167453391, 167453466]]
ENST00000494781 [[167412944, 167413002], [167413547, 167413601], [167416680, 167416735], [167417210, 167417299], [167417751, 167417849], [167425073, 167425179]] None
ENST00000476078 [[167413104, 167413601], [167416680, 167416735], [167417210, 167417299], [167417751, 167417792]] None
ENST00000496181 [[167435913, 167436123], [167438269, 167438699]] None
ENST00000488525 [[167438277, 167438382], [167440034, 167440103], [167441354, 167441481], [167446090, 167446130], [167447362, 167447370]] None
NM_001278690 [[167412804, 167413002], [167413547, 167413601], [167416680, 167416735], [167417210, 167417299], [167417751, 167417889], [167435896, 167436123], [167438269, 167438382], [167440034, 167440103], [167446090, 167446130], [167447362, 167447459], [167453535, 167455906]] [[167412900, 167413002], [167413547, 167413601], [167416680, 167416735], [167417210, 167417299], [167417751, 167417889], [167435896, 167436123], [167438269, 167438382], [167440034, 167440103], [167446090, 167446130], [167447362, 167447459], [167453535, 167453607]]
NM_194429 [[167412804, 167413002], [167413547, 167413601], [167416680, 167416735], [167417210, 167417299], [167417751, 167417889], [167424300, 167424381], [167435896, 167436123], [167438269, 167438382], [167440034, 167440103], [167446090, 167446130], [167447362, 167447459], [167453391, 167455906]] [[167412900, 167413002], [167413547, 167413601], [167416680, 167416735], [167417210, 167417299], [167417751, 167417889], [167424300, 167424381], [167435896, 167436123], [167438269, 167438382], [167440034, 167440103], [167446090, 167446130], [167447362, 167447459], [167453391, 167453466]]
NM_007045 [[167412804, 167413002], [167413547, 167413601], [167416680, 167416735], [167417210, 167417299], [167417751, 167417889], [167424300, 167424381], [167426995, 167427055], [167435896, 167436123], [167438269, 167438382], [167440034, 167440103], [167446090, 167446130], [167447362, 167447459], [167453391, 167455906]] [[167412900, 167413002], [167413547, 167413601], [167416680, 167416735], [167417210, 167417299], [167417751, 167417889], [167424300, 167424381], [167426995, 167427055], [167435896, 167436123], [167438269, 167438382], [167440034, 167440103], [167446090, 167446130], [167447362, 167447459], [167453391, 167453466]]
Promoter
Chrom Start End Description
chr6 167412665 167412698 CAGE_peak_4_at_FGFR1OP_5end
chr6 167412797 167412815 CAGE_peak_1_at_CCR6_5end,CAGE_peak_2_at_FGFR1OP_5end
chr6 167412819 167412833 CAGE_peak_2_at_CCR6_5end,CAGE_peak_3_at_FGFR1OP_5end
chr6 167412835 167412899 CAGE_peak_1_at_FGFR1OP_5end
chr6 167413107 167413120 CAGE_peak_7_at_FGFR1OP_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I167046 167046337 167048554 1.21 [{'connected_gene': 'RNASET2', 'score': 31.7}, {'connected_gene': 'CCR6', 'score': 12.62}, {'connected_gene': 'FGFR1OP', 'score': 11.99}, {'connected_gene': 'LOC105378120', 'score': 11.99}, {'connected_gene': 'ENSG00000249141', 'score': 10.74}, {'connected_gene': 'GPR31', 'score': 2.71}, {'connected_gene': 'GC06P167051', 'score': 0.77}, {'connected_gene': 'PIR56971', 'score': 0.44}, {'connected_gene': 'GC06P167042', 'score': 0.44}, {'connected_gene': 'ENSG00000272980', 'score': 0.25}]
chr6 GH06I167089 167089333 167096607 1.58 [{'connected_gene': 'RNASET2', 'score': 20.72}, {'connected_gene': 'FGFR1OP', 'score': 10.85}, {'connected_gene': 'LOC105378120', 'score': 10.85}, {'connected_gene': 'CCR6', 'score': 10.26}, {'connected_gene': 'GPR31', 'score': 9.63}, {'connected_gene': 'PIR47545', 'score': 0.77}, {'connected_gene': 'GC06P167097', 'score': 0.77}, {'connected_gene': 'PIR45022', 'score': 0.77}, {'connected_gene': 'GC06M167096', 'score': 0.77}, {'connected_gene': 'PIR53334', 'score': 0.39}, {'connected_gene': 'ENSG00000272980', 'score': 0.16}]
chr6 GH06I167030 167030134 167030901 0.6 [{'connected_gene': 'RNASET2', 'score': 24.04}, {'connected_gene': 'LOC105378120', 'score': 11.7}, {'connected_gene': 'FGFR1OP', 'score': 11.7}, {'connected_gene': 'CCR6', 'score': 11.33}, {'connected_gene': 'PIR56971', 'score': 0.39}, {'connected_gene': 'GC06P167042', 'score': 0.39}, {'connected_gene': 'ENSG00000272980', 'score': 0.29}]
chr6 GH06I167102 167102522 167104210 1.17 [{'connected_gene': 'RNASET2', 'score': 11.89}, {'connected_gene': 'LOC105378120', 'score': 10.55}, {'connected_gene': 'FGFR1OP', 'score': 10.55}, {'connected_gene': 'CCR6', 'score': 0.44}, {'connected_gene': 'GC06M167096', 'score': 0.44}, {'connected_gene': 'ENSG00000272980', 'score': 0.15}]
chr6 GH06I167098 167098364 167099626 0.87 [{'connected_gene': 'RNASET2', 'score': 16.2}, {'connected_gene': 'LOC105378120', 'score': 10.85}, {'connected_gene': 'FGFR1OP', 'score': 10.85}, {'connected_gene': 'GC06M167096', 'score': 0.77}, {'connected_gene': 'CCR6', 'score': 0.39}, {'connected_gene': 'ENSG00000272980', 'score': 0.15}]
chr6 GH06I166969 166969364 166970777 0.6 [{'connected_gene': 'RNASET2', 'score': 46.26}, {'connected_gene': 'LOC105378120', 'score': 11.61}, {'connected_gene': 'FGFR1OP', 'score': 11.61}, {'connected_gene': 'PIR40836', 'score': 0.31}]
chr6 GH06I166926 166926613 166937640 0.8 [{'connected_gene': 'RNASET2', 'score': 20.24}, {'connected_gene': 'ENSG00000249141', 'score': 12.25}, {'connected_gene': 'RPS6KA2-AS1', 'score': 12.2}, {'connected_gene': 'RPS6KA2', 'score': 12.2}, {'connected_gene': 'LOC105378120', 'score': 11.51}, {'connected_gene': 'FGFR1OP', 'score': 11.51}, {'connected_gene': 'GC06M166790', 'score': 0.39}, {'connected_gene': 'GC06M166944', 'score': 0.39}]
chr6 GH06I166624 166624382 166629326 2.36 [{'connected_gene': 'RPS6KA2', 'score': 556.21}, {'connected_gene': 'FGFR1OP', 'score': 9.85}, {'connected_gene': 'GC06M166644', 'score': 0.37}, {'connected_gene': 'FAM103A2P', 'score': 0.26}]
chr6 GH06I166862 166862200 166863142 1.74 [{'connected_gene': 'RPS6KA2', 'score': 562.02}, {'connected_gene': 'RPS6KA2-AS1', 'score': 12.02}, {'connected_gene': 'FGFR1OP', 'score': 10.29}, {'connected_gene': 'LOC105378120', 'score': 10.29}, {'connected_gene': 'GPR31', 'score': 10.24}, {'connected_gene': 'GC06P166871', 'score': 0.44}, {'connected_gene': 'GC06M166790', 'score': 0.22}, {'connected_gene': 'ENSG00000249141', 'score': 0.16}, {'connected_gene': 'LOC645468', 'score': 0.1}]
chr6 GH06I167308 167308437 167309262 1.2 [{'connected_gene': 'UNC93A', 'score': 12.28}, {'connected_gene': 'LOC100420305', 'score': 9.62}, {'connected_gene': 'FGFR1OP', 'score': 2.22}, {'connected_gene': 'GC06P167312', 'score': 0.77}]
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 GH06I167008 167008093 167008242 0.2 [{'connected_gene': 'CCR6', 'score': 10.77}, {'connected_gene': 'FGFR1OP', 'score': 0.44}, {'connected_gene': 'ENSG00000272980', 'score': 0.44}, {'connected_gene': 'PIR56971', 'score': 0.29}, {'connected_gene': 'GC06P167042', 'score': 0.29}]
chr6 GH06I167005 167005620 167006109 0.54 [{'connected_gene': 'CCR6', 'score': 10.67}, {'connected_gene': 'FGFR1OP', 'score': 0.44}, {'connected_gene': 'ENSG00000272980', 'score': 0.44}, {'connected_gene': 'PIR56971', 'score': 0.28}, {'connected_gene': 'GC06P167042', 'score': 0.28}]
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 GH06I167056 167056473 167056642 0.7 [{'connected_gene': 'CCR6', 'score': 11.83}, {'connected_gene': 'LOC105378120', 'score': 10.92}, {'connected_gene': 'FGFR1OP', 'score': 10.92}, {'connected_gene': 'GC06P167051', 'score': 0.77}, {'connected_gene': 'PIR53334', 'score': 0.34}, {'connected_gene': 'ENSG00000272980', 'score': 0.22}]
chr6 GH06I167810 167810981 167811959 0.73 [{'connected_gene': 'FGFR1OP', 'score': 10.45}, {'connected_gene': 'LINC01558', 'score': 0.39}, {'connected_gene': 'AFDN-DT', 'score': 0.37}]
chr6 GH06I166004 166004669 166009475 1.47 [{'connected_gene': 'FGFR1OP', 'score': 21.21}, {'connected_gene': 'HNRNPA1P49', 'score': 14.39}, {'connected_gene': 'TBXT', 'score': 2.85}, {'connected_gene': 'PRR18', 'score': 1.32}, {'connected_gene': 'LINC00473', 'score': 0.37}, {'connected_gene': 'LOC105378117', 'score': 0.37}]
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 GH06I166540 166540151 166543302 1.13 [{'connected_gene': 'FGFR1OP', 'score': 9.84}, {'connected_gene': 'MIR1913', 'score': 0.29}, {'connected_gene': 'GC06M166586', 'score': 0.26}, {'connected_gene': 'RPS6KA2', 'score': 0.05}]
chr6 GH06I167424 167424095 167424402 0.81 [{'connected_gene': 'LOC105378126', 'score': 550.77}, {'connected_gene': 'UNC93A', 'score': 12.16}, {'connected_gene': 'LINC01558', 'score': 10.22}, {'connected_gene': 'FGFR1OP', 'score': 2.17}, {'connected_gene': 'AFDN', 'score': 1.62}, {'connected_gene': 'LOC105378127', 'score': 0.28}]
chr6 GH06I166942 166942233 166943382 1.11 [{'connected_gene': 'LOC105378120', 'score': 11.17}, {'connected_gene': 'FGFR1OP', 'score': 11.17}, {'connected_gene': 'RNASET2', 'score': 6.25}, {'connected_gene': 'GC06M166944', 'score': 0.77}, {'connected_gene': 'LOC105378119', 'score': 0.77}, {'connected_gene': 'ENSG00000249141', 'score': 0.39}, {'connected_gene': 'GC06M166790', 'score': 0.34}]
chr6 GH06I166997 166997202 167002171 2.5 [{'connected_gene': 'LOC105378120', 'score': 550.77}, {'connected_gene': 'MIR3939', 'score': 550.77}, {'connected_gene': 'FGFR1OP', 'score': 550.77}, {'connected_gene': 'ENSG00000272980', 'score': 550.77}, {'connected_gene': 'RNASET2', 'score': 45.23}, {'connected_gene': 'HNRNPA1P49', 'score': 13.88}, {'connected_gene': 'GPR31', 'score': 2.7}, {'connected_gene': 'PIR56971', 'score': 0.26}, {'connected_gene': 'GC06P167042', 'score': 0.26}]
chr6 GH06I166924 166924448 166926477 0.43 [{'connected_gene': 'RPS6KA2-AS1', 'score': 12.22}, {'connected_gene': 'RNASET2', 'score': 11.61}, {'connected_gene': 'ENSG00000249141', 'score': 11.61}, {'connected_gene': 'LOC105378120', 'score': 11.17}, {'connected_gene': 'FGFR1OP', 'score': 11.17}, {'connected_gene': 'GC06M166790', 'score': 0.77}, {'connected_gene': 'GC06M166944', 'score': 0.34}]
chr6 GH06I166507 166507053 166508072 0.68 [{'connected_gene': 'MIR1913', 'score': 550.77}, {'connected_gene': 'FGFR1OP', 'score': 10.47}, {'connected_gene': 'RPS6KA2-IT1', 'score': 0.26}, {'connected_gene': 'RPS6KA2', 'score': 0.05}]
chr6 GH06I167040 167040623 167043318 0.6 [{'connected_gene': 'PIR56971', 'score': 550.77}, {'connected_gene': 'GC06P167042', 'score': 550.77}, {'connected_gene': 'RNASET2', 'score': 32.76}, {'connected_gene': 'FGFR1OP', 'score': 12.0}, {'connected_gene': 'LOC105378120', 'score': 12.0}, {'connected_gene': 'CCR6', 'score': 11.87}, {'connected_gene': 'ENSG00000249141', 'score': 10.75}, {'connected_gene': 'GC06P167051', 'score': 0.44}, {'connected_gene': 'ENSG00000272980', 'score': 0.26}]
chr6 GH06I166410 166410812 166412452 0.58 [{'connected_gene': 'PIR48862', 'score': 550.77}, {'connected_gene': 'MPC1', 'score': 11.9}, {'connected_gene': 'PRR18', 'score': 11.08}, {'connected_gene': 'LOC105378120', 'score': 9.71}, {'connected_gene': 'FGFR1OP', 'score': 9.71}, {'connected_gene': 'PIR46600', 'score': 0.39}, {'connected_gene': 'RPS6KA2', 'score': 0.04}]
chr6 GH06I166944 166944333 166946040 0.43 [{'connected_gene': 'GC06M166944', 'score': 550.77}, {'connected_gene': 'LOC105378119', 'score': 550.77}, {'connected_gene': 'LOC105378120', 'score': 11.18}, {'connected_gene': 'FGFR1OP', 'score': 11.18}, {'connected_gene': 'RNASET2', 'score': 10.69}, {'connected_gene': 'ENSG00000249141', 'score': 0.39}, {'connected_gene': 'GC06M166790', 'score': 0.34}]
chr6 GH06I166872 166872302 166873283 0.38 [{'connected_gene': 'GC06P166871', 'score': 550.77}, {'connected_gene': 'RPS6KA2-AS1', 'score': 12.71}, {'connected_gene': 'RPS6KA2', 'score': 12.71}, {'connected_gene': 'RNASET2', 'score': 10.82}, {'connected_gene': 'ENSG00000249141', 'score': 10.82}, {'connected_gene': 'FGFR1OP', 'score': 10.22}, {'connected_gene': 'LOC105378120', 'score': 10.22}, {'connected_gene': 'GC06M166883', 'score': 0.39}, {'connected_gene': 'GC06M166790', 'score': 0.25}]

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