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
ENST00000274242 [[40825363, 40832675], [40834282, 40834367], [40834572, 40834708], [40835284, 40835437]] [[40832605, 40832675], [40834282, 40834367], [40834572, 40834708], [40835284, 40835287]]
ENST00000511787 [[40827804, 40828053], [40831424, 40831496], [40832543, 40832657]] None
ENST00000509877 [[40832204, 40832675], [40834572, 40834708], [40835284, 40835314]] [[40832589, 40832675], [40834572, 40834708], [40835284, 40835287]]
ENST00000507642 [[40832549, 40832675], [40834062, 40834139], [40834282, 40834367], [40834572, 40834709]] None
ENST00000504562 [[40832559, 40832675], [40834282, 40834367], [40834572, 40834708], [40835120, 40835288]] None
ENST00000508493 [[40833980, 40834367], [40834572, 40834708], [40835284, 40835314]] [[40834257, 40834367], [40834572, 40834708], [40835284, 40835287]]
NM_000997 [[40831429, 40832675], [40834282, 40834367], [40834572, 40834708], [40835284, 40835387]] [[40832605, 40832675], [40834282, 40834367], [40834572, 40834708], [40835284, 40835287]]
Promoter
Chrom Start End Description
chr5 40834650 40834691 CAGE_peak_2_at_RPL37_5end
chr5 40835281 40835284 CAGE_peak_4_at_RPL37_5end
chr5 40835288 40835292 CAGE_peak_3_at_RPL37_5end
chr5 40835303 40835335 CAGE_peak_1_at_RPL37_5end
chr5 40835746 40835760 CAGE_peak_5_at_RPL37_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I040783 40783500 40785973 0.84 [{'connected_gene': 'CARD6', 'score': 18.23}, {'connected_gene': 'TTC33', 'score': 17.38}, {'connected_gene': 'SNORD72', 'score': 11.55}, {'connected_gene': 'RPL37', 'score': 11.54}, {'connected_gene': 'ENSG00000212567', 'score': 0.44}, {'connected_gene': 'GC05M040791', 'score': 0.44}, {'connected_gene': 'PRKAA1', 'score': 0.39}]
chr5 GH05I040802 40802039 40802188 0.97 [{'connected_gene': 'SNORD72', 'score': 12.2}, {'connected_gene': 'RPL37', 'score': 12.2}, {'connected_gene': 'CARD6', 'score': 10.99}, {'connected_gene': 'PRKAA1', 'score': 0.77}, {'connected_gene': 'GC05P040818', 'score': 0.37}]
chr5 GH05I040832 40832135 40836822 2.35 [{'connected_gene': 'SNORD72', 'score': 550.77}, {'connected_gene': 'RPL37', 'score': 550.77}, {'connected_gene': 'GC05M040833', 'score': 550.77}, {'connected_gene': 'PRKAA1', 'score': 52.14}, {'connected_gene': 'CARD6', 'score': 18.56}, {'connected_gene': 'TTC33', 'score': 13.27}, {'connected_gene': 'PLCXD3', 'score': 4.82}]
chr5 GH05I040831 40831939 40832088 0.54 [{'connected_gene': 'SNORD72', 'score': 550.77}, {'connected_gene': 'GC05M040833', 'score': 550.77}, {'connected_gene': 'RPL37', 'score': 0.77}, {'connected_gene': 'LOC100506548', 'score': 0.77}]
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 GH05I040413 40413248 40414497 0.74 [{'connected_gene': 'ENSG00000283286', 'score': 550.77}, {'connected_gene': 'GC05M039678', 'score': 550.77}, {'connected_gene': 'RPL37', 'score': 5.3}, {'connected_gene': 'LOC105374736', 'score': 0.2}]
chr5 GH05I040825 40825518 40825808 0.8 [{'connected_gene': 'PIR57920', 'score': 550.77}, {'connected_gene': 'PRKAA1', 'score': 21.15}, {'connected_gene': 'LOC100506548', 'score': 0.77}, {'connected_gene': 'GC05P040818', 'score': 0.44}, {'connected_gene': 'RPL37', 'score': 0.44}]