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
ENST00000478194 [[6055491, 6057993], [6060082, 6060224], [6064686, 6064811], [6065712, 6065934], [6068423, 6068530], [6069611, 6069736], [6074720, 6074819]] None
ENST00000217289 [[6055491, 6057993], [6060082, 6060224], [6064686, 6064811], [6065712, 6065934], [6068423, 6068530], [6069611, 6069736], [6075585, 6075635], [6077548, 6077680], [6078170, 6078278], [6088178, 6088281], [6090944, 6091158], [6093123, 6093270], [6096457, 6096691], [6100050, 6100219], [6103420, 6104191]] [[6057819, 6057993], [6060082, 6060224], [6064686, 6064811], [6065712, 6065934], [6068423, 6068530], [6069611, 6069736], [6075585, 6075635], [6077548, 6077680], [6078170, 6078278], [6088178, 6088281], [6090944, 6091158], [6093123, 6093270], [6096457, 6096691], [6100050, 6100201]]
ENST00000536936 [[6056668, 6057993], [6060082, 6060224], [6064686, 6064811], [6065712, 6065934], [6068423, 6068530], [6069611, 6069736], [6075585, 6075635], [6077548, 6077680], [6078170, 6078278], [6088178, 6088281], [6093123, 6093270], [6096457, 6096691], [6100067, 6100219], [6103420, 6103677]] [[6057819, 6057993], [6060082, 6060224], [6064686, 6064811], [6065712, 6065934], [6068423, 6068530], [6069611, 6069736], [6075585, 6075635], [6077548, 6077680], [6078170, 6078278], [6088178, 6088256]]
ENST00000378844 [[6093215, 6093270], [6096457, 6096691], [6100050, 6100219], [6101030, 6101139]] [[6093215, 6093270], [6096457, 6096691], [6100050, 6100201]]
NM_017671 [[6055491, 6057993], [6060082, 6060224], [6064686, 6064811], [6065712, 6065934], [6068423, 6068530], [6069611, 6069736], [6075585, 6075635], [6077548, 6077680], [6078170, 6078278], [6088178, 6088281], [6090944, 6091158], [6093123, 6093270], [6096457, 6096691], [6100050, 6100219], [6103420, 6104191]] [[6057819, 6057993], [6060082, 6060224], [6064686, 6064811], [6065712, 6065934], [6068423, 6068530], [6069611, 6069736], [6075585, 6075635], [6077548, 6077680], [6078170, 6078278], [6088178, 6088281], [6090944, 6091158], [6093123, 6093270], [6096457, 6096691], [6100050, 6100201]]
Promoter
Chrom Start End Description
chr20 6103574 6103587 CAGE_peak_7_at_FERMT1_5end
chr20 6103596 6103610 CAGE_peak_8_at_FERMT1_5end
chr20 6103612 6103621 CAGE_peak_14_at_FERMT1_5end
chr20 6103666 6103737 CAGE_peak_1_at_FERMT1_5end
chr20 6103758 6103773 CAGE_peak_5_at_FERMT1_5end
chr20 6103778 6103792 CAGE_peak_4_at_FERMT1_5end
chr20 6103800 6103809 CAGE_peak_10_at_FERMT1_5end
chr20 6103830 6103851 CAGE_peak_6_at_FERMT1_5end
chr20 6103859 6103907 CAGE_peak_2_at_FERMT1_5end
chr20 6103918 6103923 CAGE_peak_15_at_FERMT1_5end
chr20 6104062 6104096 CAGE_peak_3_at_FERMT1_5end
chr20 6104108 6104110 CAGE_peak_21_at_FERMT1_5end
chr20 6104114 6104136 CAGE_peak_9_at_FERMT1_5end
chr20 6104217 6104228 CAGE_peak_13_at_FERMT1_5end
chr20 6104233 6104244 CAGE_peak_12_at_FERMT1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I006074 6074049 6077007 1.01 [{'connected_gene': 'FERMT1', 'score': 16.38}, {'connected_gene': 'ENSG00000235820', 'score': 11.92}, {'connected_gene': 'RPS18P1', 'score': 11.92}, {'connected_gene': 'CRLS1', 'score': 11.81}, {'connected_gene': 'MCM8', 'score': 10.62}, {'connected_gene': 'TRMT6', 'score': 10.62}, {'connected_gene': 'GC20P006069', 'score': 0.44}, {'connected_gene': 'GC20M006232', 'score': 0.25}]
chr20 GH20I006093 6093525 6096540 0.77 [{'connected_gene': 'FERMT1', 'score': 21.8}, {'connected_gene': 'CHGB', 'score': 9.57}, {'connected_gene': 'GC20P006069', 'score': 0.31}, {'connected_gene': 'GC20M006232', 'score': 0.31}]
chr20 GH20I006114 6114941 6117412 0.43 [{'connected_gene': 'FERMT1', 'score': 10.65}, {'connected_gene': 'GC20M006232', 'score': 0.44}, {'connected_gene': 'GC20P006069', 'score': 0.25}]
chr20 GH20I006162 6162414 6162563 0.6 [{'connected_gene': 'FERMT1', 'score': 10.57}, {'connected_gene': 'PIR36367', 'score': 0.39}, {'connected_gene': 'GC20M006231', 'score': 0.39}, {'connected_gene': 'GC20M006221', 'score': 0.39}]
chr20 GH20I006103 6103386 6104048 0.31 [{'connected_gene': 'FERMT1', 'score': 9.45}, {'connected_gene': 'GC20M006232', 'score': 0.37}, {'connected_gene': 'GC20P006069', 'score': 0.29}]
chr20 GH20I006121 6121405 6124251 1.94 [{'connected_gene': 'FERMT1', 'score': 560.64}, {'connected_gene': 'GC20P006126', 'score': 550.77}, {'connected_gene': 'GC20M006232', 'score': 550.77}, {'connected_gene': 'GC20P006124', 'score': 550.77}]
chr20 GH20I006067 6067222 6068553 0.49 [{'connected_gene': 'GC20P006069', 'score': 550.77}, {'connected_gene': 'ENSG00000278192', 'score': 550.77}, {'connected_gene': 'FERMT1', 'score': 16.11}, {'connected_gene': 'MCM8', 'score': 10.48}, {'connected_gene': 'TRMT6', 'score': 10.48}, {'connected_gene': 'LRRN4', 'score': 0.39}]
chr20 GH20I006113 6113638 6113749 0.22 [{'connected_gene': 'GC20M006232', 'score': 0.44}, {'connected_gene': 'FERMT1', 'score': 0.44}, {'connected_gene': 'GC20P006069', 'score': 0.26}]
chr20 GH20I006077 6077454 6077603 0.69 [{'connected_gene': 'ENSG00000235820', 'score': 11.87}, {'connected_gene': 'RPS18P1', 'score': 11.87}, {'connected_gene': 'MCM8', 'score': 10.34}, {'connected_gene': 'TRMT6', 'score': 10.34}, {'connected_gene': 'CHGB', 'score': 9.68}, {'connected_gene': 'GC20P006069', 'score': 0.44}, {'connected_gene': 'GC20M006232', 'score': 0.26}, {'connected_gene': 'FERMT1', 'score': 0.25}]

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