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
ENST00000366691 [[228870823, 228871751], [228873419, 228873478], [228879031, 228882416]] [[228871489, 228871751], [228873419, 228873478], [228879031, 228879487]]
ENST00000473307 [[228880672, 228880960], [228881018, 228881090]] None
ENST00000493528 [[228881986, 228882008], [228882062, 228882416]] None
NR_037962 [[228780393, 228780779], [228873419, 228873478], [228879031, 228882416]] None
NM_021205 [[228870823, 228871751], [228873419, 228873478], [228879031, 228882416]] [[228871489, 228871751], [228873419, 228873478], [228879031, 228879487]]
Promoter
Chrom Start End Description
chr1 228870893 228870910 CAGE_peak_3_at_RHOU_5end
chr1 228871187 228871205 CAGE_peak_2_at_RHOU_5end
chr1 228871206 228871286 CAGE_peak_1_at_RHOU_5end
chr1 228871683 228871704 CAGE_peak_4_at_RHOU_5end
chr1 228879874 228879885 CAGE_peak_6_at_RHOU_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I229160 229160979 229161248 0.61 [{'connected_gene': 'TMEM78', 'score': 10.34}, {'connected_gene': 'RHOU', 'score': 1.18}, {'connected_gene': 'LOC105373158', 'score': 0.34}, {'connected_gene': 'GC01M229181', 'score': 0.34}, {'connected_gene': 'ISCA1P2', 'score': 0.13}, {'connected_gene': 'GC01M228906', 'score': 0.1}]
chr1 GH01I228779 228779078 228779250 0.33 [{'connected_gene': 'TMEM78', 'score': 9.91}, {'connected_gene': 'RHOU', 'score': 1.29}, {'connected_gene': 'LOC100421842', 'score': 0.77}, {'connected_gene': 'GC01M228858', 'score': 0.34}]
chr1 GH01I229091 229091443 229095340 1.45 [{'connected_gene': 'TMEM78', 'score': 10.63}, {'connected_gene': 'RHOU', 'score': 2.92}, {'connected_gene': 'ISCA1P2', 'score': 0.23}, {'connected_gene': 'GC01M229181', 'score': 0.17}, {'connected_gene': 'LOC105373158', 'score': 0.16}, {'connected_gene': 'GC01M228906', 'score': 0.07}]
chr1 GH01I228720 228720403 228722852 0.74 [{'connected_gene': 'TMEM78', 'score': 10.98}, {'connected_gene': 'ACTA1', 'score': 10.32}, {'connected_gene': 'GC01M228722', 'score': 0.44}, {'connected_gene': 'GC01M228756', 'score': 0.31}, {'connected_gene': 'RHOU', 'score': 0.18}]
chr1 GH01I228834 228834814 228840022 1.69 [{'connected_gene': 'CICP26', 'score': 14.74}, {'connected_gene': 'C1orf35', 'score': 13.74}, {'connected_gene': 'NUP133', 'score': 10.74}, {'connected_gene': 'ENSG00000271399', 'score': 6.16}, {'connected_gene': 'RHOU', 'score': 2.2}, {'connected_gene': 'GC01M228858', 'score': 0.29}]
chr1 GH01I228807 228807889 228812104 1.44 [{'connected_gene': 'CICP26', 'score': 40.4}, {'connected_gene': 'NUP133', 'score': 38.87}, {'connected_gene': 'C1orf35', 'score': 21.56}, {'connected_gene': 'URB2', 'score': 20.79}, {'connected_gene': 'HIST3H3', 'score': 18.13}, {'connected_gene': 'HMGN2P19', 'score': 12.41}, {'connected_gene': 'BTNL10', 'score': 10.93}, {'connected_gene': 'ENSG00000269890', 'score': 10.92}, {'connected_gene': 'RNU6-180P', 'score': 9.47}, {'connected_gene': 'ENSG00000271399', 'score': 7.49}, {'connected_gene': 'RHOU', 'score': 1.72}, {'connected_gene': 'GC01M228858', 'score': 0.44}]
chr1 GH01I228840 228840993 228843069 1.57 [{'connected_gene': 'CICP26', 'score': 31.91}, {'connected_gene': 'ENSG00000269890', 'score': 22.03}, {'connected_gene': 'HMGN2P19', 'score': 20.54}, {'connected_gene': 'NUP133', 'score': 13.24}, {'connected_gene': 'TAF5L', 'score': 11.12}, {'connected_gene': 'BTNL10', 'score': 10.92}, {'connected_gene': 'ABCB10', 'score': 10.68}, {'connected_gene': 'ENSG00000226920', 'score': 10.01}, {'connected_gene': 'DUSP5P1', 'score': 10.01}, {'connected_gene': 'ENSG00000271399', 'score': 9.95}, {'connected_gene': 'HIST3H3', 'score': 9.94}, {'connected_gene': 'C1orf35', 'score': 9.77}, {'connected_gene': 'URB2', 'score': 9.7}, {'connected_gene': 'RHOU', 'score': 1.38}, {'connected_gene': 'GC01M228858', 'score': 0.28}]
chr1 GH01I228765 228765269 228766111 0.51 [{'connected_gene': 'RHOU', 'score': 5.17}, {'connected_gene': 'URB2', 'score': 4.4}, {'connected_gene': 'ABCB10', 'score': 4.17}, {'connected_gene': 'GC01P228775', 'score': 0.44}, {'connected_gene': 'GC01P228778', 'score': 0.44}, {'connected_gene': 'GC01M228756', 'score': 0.37}]
chr1 GH01I229235 229235479 229235926 0.2 [{'connected_gene': 'RHOU', 'score': 4.6}, {'connected_gene': 'ENSG00000233920', 'score': 0.44}, {'connected_gene': 'TMEM78', 'score': 0.39}, {'connected_gene': 'GC01M228906', 'score': 0.17}]
chr1 GH01I228666 228666541 228667679 0.31 [{'connected_gene': 'RHOU', 'score': 8.94}, {'connected_gene': 'GC01P228662', 'score': 0.77}, {'connected_gene': 'FTH1P2', 'score': 0.34}]
chr1 GH01I229127 229127153 229127541 0.61 [{'connected_gene': 'RHOU', 'score': 1.17}, {'connected_gene': 'GC01M229181', 'score': 0.23}, {'connected_gene': 'LOC105373158', 'score': 0.22}, {'connected_gene': 'ISCA1P2', 'score': 0.17}, {'connected_gene': 'GC01M228906', 'score': 0.08}]
chr1 GH01I229197 229197281 229197428 0.37 [{'connected_gene': 'RHOU', 'score': 1.97}, {'connected_gene': 'LOC105373158', 'score': 0.39}, {'connected_gene': 'ENSG00000233920', 'score': 0.29}, {'connected_gene': 'GC01M228906', 'score': 0.13}]
chr1 GH01I229064 229064133 229065036 1.26 [{'connected_gene': 'RHOU', 'score': 4.52}, {'connected_gene': 'ISCA1P2', 'score': 0.34}, {'connected_gene': 'GC01M229181', 'score': 0.13}, {'connected_gene': 'GC01M228906', 'score': 0.07}]
chr1 GH01I229045 229045095 229046894 0.2 [{'connected_gene': 'RHOU', 'score': 4.29}, {'connected_gene': 'ISCA1P2', 'score': 0.77}, {'connected_gene': 'GC01M229181', 'score': 0.12}, {'connected_gene': 'GC01M228906', 'score': 0.06}]
chr1 GH01I229069 229069601 229071236 1.48 [{'connected_gene': 'RHOU', 'score': 1.33}, {'connected_gene': 'ISCA1P2', 'score': 0.31}, {'connected_gene': 'GC01M229181', 'score': 0.14}, {'connected_gene': 'GC01M228906', 'score': 0.07}]
chr1 GH01I228826 228826888 228827443 1.13 [{'connected_gene': 'RHOU', 'score': 1.46}, {'connected_gene': 'GC01M228858', 'score': 0.34}, {'connected_gene': 'ENSG00000271399', 'score': 0.29}]
chr1 GH01I228734 228734760 228739155 2.15 [{'connected_gene': 'RHOU', 'score': 550.16}, {'connected_gene': 'GC01M228756', 'score': 0.39}, {'connected_gene': 'GC01M228722', 'score': 0.34}]
chr1 GH01I228825 228825985 228826664 0.95 [{'connected_gene': 'RHOU', 'score': 1.17}, {'connected_gene': 'GC01M228858', 'score': 0.34}, {'connected_gene': 'ENSG00000271399', 'score': 0.29}]
chr1 GH01I228742 228742522 228742734 0.44 [{'connected_gene': 'RHOU', 'score': 2.4}, {'connected_gene': 'GC01M228756', 'score': 0.44}, {'connected_gene': 'GC01M228722', 'score': 0.31}]
chr1 GH01I228781 228781194 228784931 1.7 [{'connected_gene': 'NUP133', 'score': 144.13}, {'connected_gene': 'CICP26', 'score': 125.89}, {'connected_gene': 'C1orf35', 'score': 96.4}, {'connected_gene': 'ENSG00000269890', 'score': 51.26}, {'connected_gene': 'HMGN2P19', 'score': 32.32}, {'connected_gene': 'ABCB10', 'score': 28.22}, {'connected_gene': 'HIST3H3', 'score': 27.97}, {'connected_gene': 'TAF5L', 'score': 27.68}, {'connected_gene': 'URB2', 'score': 16.08}, {'connected_gene': 'LOC105373159', 'score': 11.9}, {'connected_gene': 'MRPL55', 'score': 10.4}, {'connected_gene': 'TMEM78', 'score': 9.91}, {'connected_gene': 'RHOU', 'score': 6.46}, {'connected_gene': 'WNT3A', 'score': 5.45}, {'connected_gene': 'LOC100421842', 'score': 0.44}, {'connected_gene': 'GC01M228858', 'score': 0.37}]
chr1 GH01I229228 229228818 229232636 1.68 [{'connected_gene': 'NUP133', 'score': 43.95}, {'connected_gene': 'ENSG00000269890', 'score': 38.16}, {'connected_gene': 'HMGN2P19', 'score': 21.2}, {'connected_gene': 'HIST3H3', 'score': 21.13}, {'connected_gene': 'LOC105373158', 'score': 13.8}, {'connected_gene': 'ABCB10', 'score': 11.61}, {'connected_gene': 'URB2', 'score': 10.15}, {'connected_gene': 'ENSG00000226920', 'score': 10.06}, {'connected_gene': 'DUSP5P1', 'score': 9.95}, {'connected_gene': 'CCSAP', 'score': 2.94}, {'connected_gene': 'RHOU', 'score': 2.25}, {'connected_gene': 'SPHAR', 'score': 1.34}, {'connected_gene': 'ENSG00000233920', 'score': 0.77}, {'connected_gene': 'TMEM78', 'score': 0.37}, {'connected_gene': 'GC01M228906', 'score': 0.16}]
chr1 GH01I229190 229190200 229192877 1.17 [{'connected_gene': 'LOC105373158', 'score': 47.13}, {'connected_gene': 'ACTA1', 'score': 9.97}, {'connected_gene': 'RNU6-180P', 'score': 9.26}, {'connected_gene': 'RHOU', 'score': 2.12}, {'connected_gene': 'ENSG00000233920', 'score': 0.28}, {'connected_gene': 'GC01M228906', 'score': 0.12}]
chr1 GH01I229198 229198596 229200994 1.23 [{'connected_gene': 'LOC105373158', 'score': 45.99}, {'connected_gene': 'ENSG00000233920', 'score': 12.32}, {'connected_gene': 'NUP133', 'score': 12.26}, {'connected_gene': 'TMEM78', 'score': 11.04}, {'connected_gene': 'ACTA1', 'score': 9.86}, {'connected_gene': 'RHOU', 'score': 3.38}, {'connected_gene': 'CCSAP', 'score': 1.27}, {'connected_gene': 'GC01M228906', 'score': 0.13}]
chr1 GH01I228646 228646000 228649442 2.09 [{'connected_gene': 'LOC105373132', 'score': 550.77}, {'connected_gene': 'RNA5SP18', 'score': 550.77}, {'connected_gene': 'GC01M228712', 'score': 550.77}, {'connected_gene': 'RNA5S17', 'score': 550.77}, {'connected_gene': 'CICP26', 'score': 15.16}, {'connected_gene': 'HMGN2P19', 'score': 12.25}, {'connected_gene': 'C1orf35', 'score': 12.2}, {'connected_gene': 'LOC105373159', 'score': 11.88}, {'connected_gene': 'ENSG00000269890', 'score': 11.85}, {'connected_gene': 'NUP133', 'score': 11.06}, {'connected_gene': 'RHOU', 'score': 11.0}, {'connected_gene': 'HIST3H3', 'score': 10.82}, {'connected_gene': 'TAF5L', 'score': 9.94}, {'connected_gene': 'DUSP5P1', 'score': 5.57}, {'connected_gene': 'ENSG00000270110', 'score': 5.02}, {'connected_gene': 'RNF187', 'score': 4.36}, {'connected_gene': 'HIST3H2A', 'score': 1.44}, {'connected_gene': 'TRIM11', 'score': 1.41}]
chr1 GH01I228778 228778070 228778430 0.47 [{'connected_gene': 'LOC100421842', 'score': 550.77}, {'connected_gene': 'TMEM78', 'score': 9.91}, {'connected_gene': 'RHOU', 'score': 2.18}, {'connected_gene': 'GC01M228858', 'score': 0.34}]
chr1 GH01I228643 228643800 228644401 0.5 [{'connected_gene': 'RNA5S16', 'score': 550.77}, {'connected_gene': 'DUSP5P1', 'score': 550.77}, {'connected_gene': 'RHOU', 'score': 550.77}]
chr1 GH01I229157 229157618 229159599 1.28 [{'connected_gene': 'ENSG00000233920', 'score': 11.41}, {'connected_gene': 'TMEM78', 'score': 10.52}, {'connected_gene': 'LOC105373158', 'score': 7.68}, {'connected_gene': 'RHOU', 'score': 1.92}, {'connected_gene': 'GC01M229181', 'score': 0.34}, {'connected_gene': 'ISCA1P2', 'score': 0.13}, {'connected_gene': 'GC01M228906', 'score': 0.1}]
chr1 GH01I228994 228994944 228997206 0.77 [{'connected_gene': 'GC01M228979', 'score': 550.77}, {'connected_gene': 'RHOU', 'score': 1.76}, {'connected_gene': 'LOC105373143', 'score': 0.25}, {'connected_gene': 'GC01M228906', 'score': 0.05}]
chr1 GH01I228712 228712991 228713133 0.22 [{'connected_gene': 'GC01M228722', 'score': 0.77}, {'connected_gene': 'PIR41423', 'score': 0.34}, {'connected_gene': 'RHOU', 'score': 0.2}]
chr1 GH01I228739 228739474 228739623 0.62 [{'connected_gene': 'GC01M228756', 'score': 0.44}, {'connected_gene': 'GC01M228722', 'score': 0.34}, {'connected_gene': 'RHOU', 'score': 0.16}]
chr1 GH01I228705 228705614 228705763 0.54 [{'connected_gene': 'GC01M228722', 'score': 0.44}, {'connected_gene': 'PIR41423', 'score': 0.37}, {'connected_gene': 'GC01P228662', 'score': 0.26}, {'connected_gene': 'RHOU', 'score': 0.21}]
chr1 GH01I228828 228828206 228828435 0.26 [{'connected_gene': 'ENSG00000271399', 'score': 5.47}, {'connected_gene': 'RHOU', 'score': 1.35}, {'connected_gene': 'GC01M228858', 'score': 0.31}]
chr1 GH01I228669 228669001 228669201 0.43 [{'connected_gene': 'GC01P228662', 'score': 0.44}, {'connected_gene': 'FTH1P2', 'score': 0.37}, {'connected_gene': 'RHOU', 'score': 0.34}]
chr1 GH01I228665 228665234 228665383 0.2 [{'connected_gene': 'GC01P228662', 'score': 0.77}, {'connected_gene': 'FTH1P2', 'score': 0.34}, {'connected_gene': 'RHOU', 'score': 0.34}]
chr1 GH01I228668 228668634 228668783 0.38 [{'connected_gene': 'GC01P228662', 'score': 0.44}, {'connected_gene': 'FTH1P2', 'score': 0.37}, {'connected_gene': 'RHOU', 'score': 0.34}]
chr1 GH01I228664 228664494 228664801 1.13 [{'connected_gene': 'GC01P228662', 'score': 550.77}, {'connected_gene': 'LOC105373159', 'score': 17.72}, {'connected_gene': 'ENSG00000233920', 'score': 12.14}, {'connected_gene': 'TMEM78', 'score': 11.89}, {'connected_gene': 'MRPL55', 'score': 10.4}, {'connected_gene': 'FTH1P2', 'score': 0.34}, {'connected_gene': 'RHOU', 'score': 0.34}]

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