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
ENST00000302472 [[40679599, 40680580], [40681052, 40681962], [40691880, 40693837]] [[40681095, 40681962], [40691880, 40692480]]
ENST00000514343 [[40680031, 40680580], [40681052, 40681782]] None
ENST00000512578 [[40681591, 40681962], [40691880, 40692069]] None
ENST00000509543 [[40681788, 40681962], [40685493, 40685553]] None
ENST00000513635 [[40681803, 40681962], [40685472, 40685585], [40691880, 40692145]] None
NM_000958 [[40680031, 40680580], [40681052, 40681962], [40691880, 40693837]] [[40681095, 40681962], [40691880, 40692480]]
Promoter
Chrom Start End Description
chr5 40679504 40679537 CAGE_peak_3_at_PTGER4_5end
chr5 40679542 40679557 CAGE_peak_6_at_PTGER4_5end
chr5 40679584 40679598 CAGE_peak_5_at_PTGER4_5end
chr5 40680009 40680062 CAGE_peak_1_at_PTGER4_5end
chr5 40681025 40681036 CAGE_peak_7_at_PTGER4_5end
chr5 40681044 40681070 CAGE_peak_2_at_PTGER4_5end
chr5 40681669 40681698 CAGE_peak_4_at_PTGER4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I040356 40356466 40356562 0.44 [{'connected_gene': 'CARD6', 'score': 5.25}, {'connected_gene': 'PTGER4', 'score': 1.35}, {'connected_gene': 'LOC105374736', 'score': 0.44}, {'connected_gene': 'GC05M039678', 'score': 0.22}]
chr5 GH05I040672 40672001 40673000 1.03 [{'connected_gene': 'CARD6', 'score': 19.27}, {'connected_gene': 'PRKAA1', 'score': 4.59}, {'connected_gene': 'PTGER4', 'score': 4.22}, {'connected_gene': 'LOC105374738', 'score': 0.44}, {'connected_gene': 'ENSG00000199552', 'score': 0.37}, {'connected_gene': 'TTC33', 'score': 0.18}]
chr5 GH05I040699 40699644 40701187 0.31 [{'connected_gene': 'CARD6', 'score': 17.21}, {'connected_gene': 'TTC33', 'score': 6.1}, {'connected_gene': 'GC05M040716', 'score': 0.39}, {'connected_gene': 'PTGER4', 'score': 0.34}]
chr5 GH05I040440 40440887 40443532 1.26 [{'connected_gene': 'PTGER4', 'score': 21.88}, {'connected_gene': 'CARD6', 'score': 1.67}, {'connected_gene': 'PRKAA1', 'score': 1.12}, {'connected_gene': 'ENSG00000283286', 'score': 0.31}, {'connected_gene': 'GC05P040507', 'score': 0.2}]
chr5 GH05I040674 40674520 40690311 2.65 [{'connected_gene': 'PTGER4', 'score': 564.48}, {'connected_gene': 'CARD6', 'score': 7.07}, {'connected_gene': 'TTC33', 'score': 6.34}, {'connected_gene': 'PRKAA1', 'score': 1.22}, {'connected_gene': 'LOC105374738', 'score': 0.77}, {'connected_gene': 'GC05M040716', 'score': 0.29}]
chr5 GH05I040514 40514987 40515301 0.24 [{'connected_gene': 'PTGER4', 'score': 22.17}, {'connected_gene': 'CARD6', 'score': 1.3}, {'connected_gene': 'GC05P040507', 'score': 0.44}, {'connected_gene': 'LOC105374737', 'score': 0.18}, {'connected_gene': 'TTC33', 'score': 0.07}]
chr5 GH05I040569 40569451 40571237 1.14 [{'connected_gene': 'PTGER4', 'score': 10.56}, {'connected_gene': 'CARD6', 'score': 2.83}, {'connected_gene': 'LOC105374737', 'score': 0.31}, {'connected_gene': 'GC05P040507', 'score': 0.21}, {'connected_gene': 'TTC33', 'score': 0.09}]
chr5 GH05I040627 40627630 40628831 0.54 [{'connected_gene': 'PTGER4', 'score': 16.21}, {'connected_gene': 'CARD6', 'score': 6.9}, {'connected_gene': 'GC05P040610', 'score': 0.37}, {'connected_gene': 'LOC105374737', 'score': 0.31}, {'connected_gene': 'GC05P040654', 'score': 0.31}, {'connected_gene': 'TTC33', 'score': 0.13}]
chr5 GH05I040521 40521984 40522218 0.5 [{'connected_gene': 'PTGER4', 'score': 16.07}, {'connected_gene': 'CARD6', 'score': 2.36}, {'connected_gene': 'GC05P040507', 'score': 0.39}, {'connected_gene': 'LOC105374737', 'score': 0.18}, {'connected_gene': 'TTC33', 'score': 0.07}]
chr5 GH05I040355 40355911 40356201 0.75 [{'connected_gene': 'PTGER4', 'score': 10.54}, {'connected_gene': 'CARD6', 'score': 7.27}, {'connected_gene': 'LOC105374736', 'score': 0.44}, {'connected_gene': 'GC05M039678', 'score': 0.22}]
chr5 GH05I040484 40484480 40488600 1.37 [{'connected_gene': 'PTGER4', 'score': 19.57}, {'connected_gene': 'CARD6', 'score': 3.24}, {'connected_gene': 'GC05P040507', 'score': 0.34}, {'connected_gene': 'ENSG00000283286', 'score': 0.19}]
chr5 GH05I040492 40492129 40492339 0.3 [{'connected_gene': 'PTGER4', 'score': 6.74}, {'connected_gene': 'CARD6', 'score': 2.18}, {'connected_gene': 'GC05P040507', 'score': 0.37}, {'connected_gene': 'ENSG00000283286', 'score': 0.18}]
chr5 GH05I040446 40446611 40447871 1.36 [{'connected_gene': 'PTGER4', 'score': 10.59}, {'connected_gene': 'CARD6', 'score': 2.6}, {'connected_gene': 'ENSG00000283286', 'score': 0.29}, {'connected_gene': 'GC05P040507', 'score': 0.21}]
chr5 GH05I040503 40503573 40503700 0.28 [{'connected_gene': 'PTGER4', 'score': 17.79}, {'connected_gene': 'CARD6', 'score': 2.81}, {'connected_gene': 'GC05P040507', 'score': 0.77}, {'connected_gene': 'ENSG00000283286', 'score': 0.17}]
chr5 GH05I040404 40404202 40412170 1.46 [{'connected_gene': 'PTGER4', 'score': 31.66}, {'connected_gene': 'RPL37', 'score': 5.34}, {'connected_gene': 'CARD6', 'score': 4.06}, {'connected_gene': 'PRKAA1', 'score': 1.24}, {'connected_gene': 'GC05M039678', 'score': 0.44}, {'connected_gene': 'LOC105374736', 'score': 0.21}]
chr5 GH05I040381 40381181 40386799 1.37 [{'connected_gene': 'PTGER4', 'score': 22.54}, {'connected_gene': 'RPL37', 'score': 5.42}, {'connected_gene': 'CARD6', 'score': 1.33}, {'connected_gene': 'PRKAA1', 'score': 1.12}, {'connected_gene': 'GC05M039678', 'score': 0.29}, {'connected_gene': 'LOC105374736', 'score': 0.28}]
chr5 GH05I040391 40391680 40391886 0.51 [{'connected_gene': 'PTGER4', 'score': 17.33}, {'connected_gene': 'RPL37', 'score': 3.95}, {'connected_gene': 'CARD6', 'score': 2.95}, {'connected_gene': 'GC05M039678', 'score': 0.34}, {'connected_gene': 'LOC105374736', 'score': 0.25}]
chr5 GH05I040435 40435881 40438514 1.16 [{'connected_gene': 'PTGER4', 'score': 30.9}, {'connected_gene': 'RPL37', 'score': 4.08}, {'connected_gene': 'CARD6', 'score': 2.21}, {'connected_gene': 'ENSG00000283286', 'score': 0.34}, {'connected_gene': 'GC05P040507', 'score': 0.19}]
chr5 GH05I040490 40490340 40491119 1 [{'connected_gene': 'PTGER4', 'score': 18.3}, {'connected_gene': 'PRKAA1', 'score': 4.68}, {'connected_gene': 'CARD6', 'score': 2.92}, {'connected_gene': 'GC05P040507', 'score': 0.37}, {'connected_gene': 'ENSG00000283286', 'score': 0.18}]
chr5 GH05I040615 40615202 40617303 1 [{'connected_gene': 'PTGER4', 'score': 13.13}, {'connected_gene': 'PRKAA1', 'score': 4.59}, {'connected_gene': 'GC05P040610', 'score': 0.44}, {'connected_gene': 'LOC105374737', 'score': 0.37}, {'connected_gene': 'GC05P040654', 'score': 0.28}, {'connected_gene': 'TTC33', 'score': 0.12}]
chr5 GH05I040166 40166479 40166566 0.38 [{'connected_gene': 'PTGER4', 'score': 10.23}, {'connected_gene': 'RNU1-150P', 'score': 9.58}, {'connected_gene': 'LINC00604', 'score': 0.19}, {'connected_gene': 'KRT18P56', 'score': 0.15}, {'connected_gene': 'GC05M039678', 'score': 0.07}]
chr5 GH05I040333 40333003 40334174 0.54 [{'connected_gene': 'PTGER4', 'score': 10.73}, {'connected_gene': 'RNU1-150P', 'score': 10.63}, {'connected_gene': 'LOC105374736', 'score': 0.39}, {'connected_gene': 'GC05M039678', 'score': 0.18}]
chr5 GH05I040033 40033015 40034302 0.67 [{'connected_gene': 'PTGER4', 'score': 5.64}, {'connected_gene': 'KRT18P56', 'score': 0.29}, {'connected_gene': 'LINC00603', 'score': 0.11}, {'connected_gene': 'GC05M039678', 'score': 0.05}]
chr5 GH05I040041 40041599 40041748 0.31 [{'connected_gene': 'PTGER4', 'score': 5.57}, {'connected_gene': 'KRT18P56', 'score': 0.34}, {'connected_gene': 'LINC00603', 'score': 0.11}, {'connected_gene': 'GC05M039678', 'score': 0.05}]
chr5 GH05I040201 40201866 40203916 0.38 [{'connected_gene': 'PTGER4', 'score': 10.29}, {'connected_gene': 'LINC00604', 'score': 0.28}, {'connected_gene': 'KRT18P56', 'score': 0.12}, {'connected_gene': 'GC05M039678', 'score': 0.08}]
chr5 GH05I040623 40623487 40624237 0.2 [{'connected_gene': 'PTGER4', 'score': 11.5}, {'connected_gene': 'GC05P040610', 'score': 0.39}, {'connected_gene': 'LOC105374737', 'score': 0.34}, {'connected_gene': 'GC05P040654', 'score': 0.29}, {'connected_gene': 'TTC33', 'score': 0.12}]
chr5 GH05I040518 40518039 40519430 0.71 [{'connected_gene': 'PTGER4', 'score': 11.2}, {'connected_gene': 'GC05P040507', 'score': 0.39}, {'connected_gene': 'LOC105374737', 'score': 0.18}, {'connected_gene': 'TTC33', 'score': 0.07}]
chr5 GH05I040550 40550875 40553326 0.91 [{'connected_gene': 'PTGER4', 'score': 5.8}, {'connected_gene': 'GC05P040507', 'score': 0.26}, {'connected_gene': 'LOC105374737', 'score': 0.25}, {'connected_gene': 'TTC33', 'score': 0.08}]
chr5 GH05I040605 40605382 40606400 0.2 [{'connected_gene': 'PTGER4', 'score': 10.97}, {'connected_gene': 'GC05P040610', 'score': 0.77}, {'connected_gene': 'LOC105374737', 'score': 0.44}, {'connected_gene': 'TTC33', 'score': 0.1}]
chr5 GH05I040390 40390288 40390721 0.51 [{'connected_gene': 'PTGER4', 'score': 10.9}, {'connected_gene': 'GC05M039678', 'score': 0.34}, {'connected_gene': 'LOC105374736', 'score': 0.26}]
chr5 GH05I040377 40377951 40379330 1.24 [{'connected_gene': 'PTGER4', 'score': 12.8}, {'connected_gene': 'LOC105374736', 'score': 0.29}, {'connected_gene': 'GC05M039678', 'score': 0.28}]
chr5 GH05I040401 40401401 40402200 0.86 [{'connected_gene': 'PTGER4', 'score': 10.97}, {'connected_gene': 'GC05M039678', 'score': 0.39}, {'connected_gene': 'LOC105374736', 'score': 0.22}]
chr5 GH05I040365 40365826 40365983 0.56 [{'connected_gene': 'PTGER4', 'score': 3.52}, {'connected_gene': 'LOC105374736', 'score': 0.37}, {'connected_gene': 'GC05M039678', 'score': 0.25}]
chr5 GH05I040388 40388200 40388401 0.63 [{'connected_gene': 'PTGER4', 'score': 12.03}, {'connected_gene': 'GC05M039678', 'score': 0.31}, {'connected_gene': 'LOC105374736', 'score': 0.26}]
chr5 GH05I040396 40396428 40396573 0.38 [{'connected_gene': 'PTGER4', 'score': 13.61}, {'connected_gene': 'GC05M039678', 'score': 0.37}, {'connected_gene': 'LOC105374736', 'score': 0.25}]
chr5 GH05I040360 40360438 40362011 0.44 [{'connected_gene': 'PTGER4', 'score': 14.47}, {'connected_gene': 'LOC105374736', 'score': 0.39}, {'connected_gene': 'GC05M039678', 'score': 0.23}]
chr5 GH05I040389 40388439 40388588 0.58 [{'connected_gene': 'PTGER4', 'score': 12.03}, {'connected_gene': 'GC05M039678', 'score': 0.31}, {'connected_gene': 'LOC105374736', 'score': 0.26}]
chr5 GH05I040502 40502401 40503237 0.72 [{'connected_gene': 'PTGER4', 'score': 11.42}, {'connected_gene': 'GC05P040507', 'score': 0.44}, {'connected_gene': 'ENSG00000283286', 'score': 0.17}]
chr5 GH05I040427 40427721 40430454 1.09 [{'connected_gene': 'PTGER4', 'score': 19.08}, {'connected_gene': 'ENSG00000283286', 'score': 0.39}, {'connected_gene': 'GC05P040507', 'score': 0.18}]
chr5 GH05I040480 40480370 40480684 0.39 [{'connected_gene': 'PTGER4', 'score': 10.84}, {'connected_gene': 'GC05P040507', 'score': 0.31}, {'connected_gene': 'ENSG00000283286', 'score': 0.2}]
chr5 GH05I040504 40502099 40502248 0.2 [{'connected_gene': 'PTGER4', 'score': 11.42}, {'connected_gene': 'GC05P040507', 'score': 0.44}, {'connected_gene': 'ENSG00000283286', 'score': 0.17}]
chr5 GH05I040501 40501859 40502008 0.2 [{'connected_gene': 'PTGER4', 'score': 11.42}, {'connected_gene': 'GC05P040507', 'score': 0.44}, {'connected_gene': 'ENSG00000283286', 'score': 0.17}]
chr5 GH05I040477 40477359 40479456 0.43 [{'connected_gene': 'PTGER4', 'score': 10.84}, {'connected_gene': 'GC05P040507', 'score': 0.31}, {'connected_gene': 'ENSG00000283286', 'score': 0.21}]
chr5 GH05I040733 40733280 40736548 0.89 [{'connected_gene': 'TTC33', 'score': 17.52}, {'connected_gene': 'PTGER4', 'score': 10.86}, {'connected_gene': 'CARD6', 'score': 6.57}, {'connected_gene': 'GC05M040716', 'score': 0.34}]
chr5 GH05I040691 40691462 40692953 0.2 [{'connected_gene': 'TTC33', 'score': 5.82}, {'connected_gene': 'PTGER4', 'score': 0.39}, {'connected_gene': 'GC05M040716', 'score': 0.34}]
chr5 GH05I040754 40754026 40756588 2.37 [{'connected_gene': 'TTC33', 'score': 556.84}, {'connected_gene': 'PRKAA1', 'score': 24.6}, {'connected_gene': 'CARD6', 'score': 17.49}, {'connected_gene': 'PTGER4', 'score': 4.54}, {'connected_gene': 'GC05M040716', 'score': 0.26}]
chr5 GH05I040229 40229757 40231588 0.31 [{'connected_gene': 'RNU1-150P', 'score': 11.28}, {'connected_gene': 'PTGER4', 'score': 9.96}, {'connected_gene': 'LINC00604', 'score': 0.44}, {'connected_gene': 'KRT18P56', 'score': 0.1}, {'connected_gene': 'GC05M039678', 'score': 0.09}]
chr5 GH05I040652 40652325 40655501 0.83 [{'connected_gene': 'ENSG00000199552', 'score': 550.77}, {'connected_gene': 'GC05P040654', 'score': 550.77}, {'connected_gene': 'PTGER4', 'score': 14.8}, {'connected_gene': 'CARD6', 'score': 7.1}, {'connected_gene': 'GC05P040610', 'score': 0.26}, {'connected_gene': 'TTC33', 'score': 0.15}]

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