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
ENST00000337273 [[72112138, 72112579], [72144211, 72144325], [72147070, 72147146], [72151600, 72151750], [72157634, 72157741], [72161422, 72161556], [72168465, 72168547], [72171441, 72171564], [72173054, 72173173], [72178293, 72178354], [72178890, 72179059], [72182896, 72183049], [72183904, 72184130], [72185612, 72185784], [72187636, 72187723], [72188965, 72189073], [72189203, 72189362], [72189442, 72189530], [72192284, 72192383], [72192882, 72192978], [72195832, 72195908], [72196800, 72196900], [72199535, 72199610], [72201129, 72201272], [72204535, 72212560]] [[72112564, 72112579], [72144211, 72144325], [72147070, 72147146], [72151600, 72151750], [72157634, 72157741], [72161422, 72161556], [72168465, 72168547], [72171441, 72171564], [72173054, 72173173], [72178293, 72178354], [72178890, 72179059], [72182896, 72183049], [72183904, 72184130], [72185612, 72185784], [72187636, 72187723], [72188965, 72189073], [72189203, 72189362], [72189442, 72189530], [72192284, 72192383], [72192882, 72192978], [72195832, 72195908], [72196800, 72196900], [72199535, 72199610], [72201129, 72201237]]
ENST00000454282 [[72112417, 72112579], [72144211, 72144325], [72147070, 72147146], [72157634, 72157741], [72161422, 72161556], [72168465, 72168547], [72171441, 72171564], [72173054, 72173173], [72178293, 72178354], [72178890, 72179059], [72182896, 72183049], [72183904, 72184130], [72185612, 72185784], [72187636, 72187723], [72188965, 72189073], [72189203, 72189362], [72189442, 72189530], [72192284, 72192383], [72192882, 72192978], [72195832, 72195908], [72196800, 72196900], [72199535, 72199610], [72201129, 72201272], [72204535, 72210215]] [[72112564, 72112579], [72144211, 72144325], [72147070, 72147146], [72157634, 72157741], [72161422, 72161556], [72168465, 72168547], [72171441, 72171564], [72173054, 72173173], [72178293, 72178354], [72178890, 72179059], [72182896, 72183049], [72183904, 72184130], [72185612, 72185784], [72187636, 72187723], [72188965, 72189073], [72189203, 72189362], [72189442, 72189530], [72192284, 72192383], [72192882, 72192978], [72195832, 72195908], [72196800, 72196900], [72199535, 72199610], [72201129, 72201237]]
ENST00000515483 [[72112450, 72112579], [72121561, 72121648], [72144211, 72144325], [72147070, 72147146], [72151600, 72151743]] None
ENST00000447967 [[72112475, 72112579], [72144211, 72144325], [72147070, 72147146], [72151600, 72151750], [72168465, 72168547], [72171441, 72171564], [72173054, 72173173], [72178293, 72178354], [72178890, 72178924]] [[72144220, 72144325], [72147070, 72147146], [72151600, 72151750], [72168465, 72168521]]
ENST00000520850 [[72112475, 72112579], [72144211, 72144325], [72147070, 72147146], [72151600, 72151750], [72168465, 72168547], [72171441, 72171564], [72173054, 72173173], [72178293, 72178354], [72178890, 72178924]] [[72112564, 72112579], [72144211, 72144325], [72147070, 72147146], [72151600, 72151750], [72168465, 72168521]]
ENST00000523768 [[72112498, 72112579], [72144211, 72144325], [72147070, 72147146], [72157634, 72157741], [72161422, 72161556], [72168465, 72168547], [72171441, 72171564], [72173054, 72173173], [72178293, 72178354], [72178890, 72179059], [72182896, 72183049], [72183904, 72184130], [72185612, 72185784], [72187636, 72187723], [72188965, 72189073], [72189203, 72189362], [72189442, 72189530], [72192284, 72192383], [72192882, 72192978], [72195832, 72195908], [72196800, 72196900], [72199535, 72199610], [72201129, 72201256]] [[72112564, 72112579], [72144211, 72144325], [72147070, 72147146], [72157634, 72157741], [72161422, 72161556], [72168465, 72168547], [72171441, 72171564], [72173054, 72173173], [72178293, 72178354], [72178890, 72179059], [72182896, 72183049], [72183904, 72184130], [72185612, 72185784], [72187636, 72187723], [72188965, 72189073], [72189203, 72189362], [72189442, 72189530], [72192284, 72192383], [72192882, 72192978], [72195832, 72195908], [72196800, 72196900], [72199535, 72199610], [72201129, 72201237]]
ENST00000518279 [[72112619, 72112781], [72144211, 72144325], [72147064, 72147146], [72157634, 72157741], [72161422, 72161520]] None
ENST00000513944 [[72143996, 72144078], [72144211, 72144325], [72147031, 72147146], [72151600, 72151750], [72157634, 72157742]] None
ENST00000506351 [[72144010, 72144078], [72144211, 72144325], [72147070, 72147146], [72151600, 72151750], [72157634, 72157741], [72161422, 72161556], [72168465, 72168547], [72171441, 72171564], [72173054, 72173173], [72178293, 72178354], [72178890, 72179059], [72182896, 72183049], [72183904, 72184130], [72185612, 72185784], [72187636, 72187723], [72188965, 72189073], [72189203, 72189362], [72189442, 72189530], [72192284, 72192383], [72192882, 72192978], [72195832, 72195908], [72196800, 72196900], [72199535, 72199610], [72201129, 72201272], [72204535, 72204778]] [[72144220, 72144325], [72147070, 72147146], [72151600, 72151750], [72157634, 72157741], [72161422, 72161556], [72168465, 72168547], [72171441, 72171564], [72173054, 72173173], [72178293, 72178354], [72178890, 72179059], [72182896, 72183049], [72183904, 72184130], [72185612, 72185784], [72187636, 72187723], [72188965, 72189073], [72189203, 72189362], [72189442, 72189530], [72192284, 72192383], [72192882, 72192978], [72195832, 72195908], [72196800, 72196900], [72199535, 72199610], [72201129, 72201237]]
ENST00000509030 [[72144211, 72144325], [72147070, 72147146], [72151600, 72151750], [72157634, 72157741], [72158180, 72158223]] None
ENST00000511754 [[72144211, 72144325], [72147070, 72147146], [72157634, 72157741], [72161422, 72161558]] None
ENST00000506528 [[72144211, 72144325], [72147070, 72147146], [72151600, 72151750], [72168465, 72168547]] None
ENST00000508762 [[72167573, 72167716], [72168465, 72168547], [72171441, 72171564], [72173054, 72173173], [72178293, 72178354], [72178890, 72178926]] None
ENST00000505082 [[72168494, 72168547], [72173054, 72173173], [72178293, 72178354], [72178890, 72179059], [72182896, 72183037]] None
ENST00000605210 [[72189502, 72189530], [72192284, 72192383], [72192882, 72192978], [72195832, 72195908], [72196800, 72196900], [72199535, 72199610], [72201129, 72201407]] [[72189502, 72189530], [72192284, 72192383], [72192882, 72192978], [72195832, 72195908], [72196800, 72196900], [72199535, 72199610], [72201129, 72201237]]
ENST00000503084 [[72196700, 72196900], [72199535, 72199610], [72201129, 72201272], [72204535, 72204740]] None
NM_002270 [[72112417, 72112579], [72144211, 72144325], [72147070, 72147146], [72151600, 72151750], [72157634, 72157741], [72161422, 72161556], [72168465, 72168547], [72171441, 72171564], [72173054, 72173173], [72178293, 72178354], [72178890, 72179059], [72182896, 72183049], [72183904, 72184130], [72185612, 72185784], [72187636, 72187723], [72188965, 72189073], [72189203, 72189362], [72189442, 72189530], [72192284, 72192383], [72192882, 72192978], [72195832, 72195908], [72196800, 72196900], [72199535, 72199610], [72201129, 72201272], [72204535, 72210215]] [[72112564, 72112579], [72144211, 72144325], [72147070, 72147146], [72151600, 72151750], [72157634, 72157741], [72161422, 72161556], [72168465, 72168547], [72171441, 72171564], [72173054, 72173173], [72178293, 72178354], [72178890, 72179059], [72182896, 72183049], [72183904, 72184130], [72185612, 72185784], [72187636, 72187723], [72188965, 72189073], [72189203, 72189362], [72189442, 72189530], [72192284, 72192383], [72192882, 72192978], [72195832, 72195908], [72196800, 72196900], [72199535, 72199610], [72201129, 72201237]]
NM_153188 [[72143929, 72144078], [72144211, 72144325], [72147070, 72147146], [72151600, 72151750], [72157634, 72157741], [72161422, 72161556], [72168465, 72168547], [72171441, 72171564], [72173054, 72173173], [72178293, 72178354], [72178890, 72179059], [72182896, 72183049], [72183904, 72184130], [72185612, 72185784], [72187636, 72187723], [72188965, 72189073], [72189203, 72189362], [72189442, 72189530], [72192284, 72192383], [72192882, 72192978], [72195832, 72195908], [72196800, 72196900], [72199535, 72199610], [72201129, 72201272], [72204535, 72210215]] [[72144220, 72144325], [72147070, 72147146], [72151600, 72151750], [72157634, 72157741], [72161422, 72161556], [72168465, 72168547], [72171441, 72171564], [72173054, 72173173], [72178293, 72178354], [72178890, 72179059], [72182896, 72183049], [72183904, 72184130], [72185612, 72185784], [72187636, 72187723], [72188965, 72189073], [72189203, 72189362], [72189442, 72189530], [72192284, 72192383], [72192882, 72192978], [72195832, 72195908], [72196800, 72196900], [72199535, 72199610], [72201129, 72201237]]
Promoter
Chrom Start End Description
chr5 72112445 72112456 CAGE_peak_6_at_TNPO1_5end
chr5 72112470 72112533 CAGE_peak_2_at_TNPO1_5end
chr5 72143929 72143940 CAGE_peak_5_at_TNPO1_5end
chr5 72143942 72143977 CAGE_peak_1_at_TNPO1_5end
chr5 72143988 72144006 CAGE_peak_3_at_TNPO1_5end
chr5 72204959 72204975 CAGE_peak_4_at_TNPO1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I073795 73795478 73798146 1.31 [{'connected_gene': 'UTP15', 'score': 14.56}, {'connected_gene': 'FCHO2', 'score': 14.06}, {'connected_gene': 'ANKRA2', 'score': 13.9}, {'connected_gene': 'RNU7-196P', 'score': 12.0}, {'connected_gene': 'TNPO1', 'score': 11.9}, {'connected_gene': 'ARHGEF28', 'score': 4.22}, {'connected_gene': 'ENSG00000184084', 'score': 0.44}, {'connected_gene': 'LOC102725145', 'score': 0.44}]
chr5 GH05I073623 73623536 73628400 2.4 [{'connected_gene': 'ARHGEF28', 'score': 562.08}, {'connected_gene': 'UTP15', 'score': 22.17}, {'connected_gene': 'ANKRA2', 'score': 16.04}, {'connected_gene': 'LOC102725145', 'score': 10.49}, {'connected_gene': 'TNPO1', 'score': 10.15}]
chr5 GH05I073435 73435680 73438798 1.33 [{'connected_gene': 'ANKRA2', 'score': 15.96}, {'connected_gene': 'UTP15', 'score': 12.16}, {'connected_gene': 'TNPO1', 'score': 10.15}, {'connected_gene': 'BTF3', 'score': 8.5}, {'connected_gene': 'FOXD1-AS1', 'score': 0.44}, {'connected_gene': 'GC05P073385', 'score': 0.23}]
chr5 GH05I072586 72586727 72588620 1.19 [{'connected_gene': 'ANKRA2', 'score': 21.63}, {'connected_gene': 'TNPO1', 'score': 14.46}, {'connected_gene': 'UTP15', 'score': 13.18}, {'connected_gene': 'FCHO2', 'score': 12.55}, {'connected_gene': 'MAP1B', 'score': 4.81}, {'connected_gene': 'GC05M072590', 'score': 0.77}, {'connected_gene': 'GC05P072582', 'score': 0.44}, {'connected_gene': 'LINC02056', 'score': 0.19}]
chr5 GH05I073215 73215519 73216809 1.47 [{'connected_gene': 'ANKRA2', 'score': 19.14}, {'connected_gene': 'TMEM174', 'score': 11.14}, {'connected_gene': 'LINC01386', 'score': 10.44}, {'connected_gene': 'TNPO1', 'score': 10.05}, {'connected_gene': 'FOXD1', 'score': 1.89}, {'connected_gene': 'ENSG00000249743', 'score': 0.77}, {'connected_gene': 'LOC105379031', 'score': 0.22}]
chr5 GH05I073747 73747504 73750544 0.92 [{'connected_gene': 'ANKRA2', 'score': 16.75}, {'connected_gene': 'FCHO2', 'score': 13.26}, {'connected_gene': 'UTP15', 'score': 12.62}, {'connected_gene': 'TNPO1', 'score': 11.51}, {'connected_gene': 'BTF3', 'score': 9.77}, {'connected_gene': 'ARHGEF28', 'score': 7.52}, {'connected_gene': 'LOC102725145', 'score': 0.28}]
chr5 GH05I072106 72106519 72111578 2.49 [{'connected_gene': 'MAP1B', 'score': 553.37}, {'connected_gene': 'LOC105379028', 'score': 550.77}, {'connected_gene': 'BDP1', 'score': 34.11}, {'connected_gene': 'TNPO1', 'score': 21.38}, {'connected_gene': 'FCHO2', 'score': 16.77}, {'connected_gene': 'LOC653406', 'score': 11.83}, {'connected_gene': 'GUSBP9', 'score': 11.71}, {'connected_gene': 'RPL7P22', 'score': 10.25}, {'connected_gene': 'PTCD2', 'score': 5.67}, {'connected_gene': 'GC05P072152', 'score': 0.26}, {'connected_gene': 'GC05M072061', 'score': 0.15}]
chr5 GH05I071931 71931652 71933784 1.13 [{'connected_gene': 'TNPO1', 'score': 11.9}, {'connected_gene': 'BDP1', 'score': 10.75}, {'connected_gene': 'PIR47517', 'score': 0.29}, {'connected_gene': 'MAP1B', 'score': 0.09}]
chr5 GH05I072846 72846630 72850697 2.29 [{'connected_gene': 'TNPO1', 'score': 572.46}, {'connected_gene': 'ENSG00000249085', 'score': 22.52}, {'connected_gene': 'FCHO2', 'score': 15.42}, {'connected_gene': 'UTP15', 'score': 14.07}, {'connected_gene': 'ANKRA2', 'score': 11.75}, {'connected_gene': 'RPL7P22', 'score': 10.74}, {'connected_gene': 'MRPS27', 'score': 10.19}, {'connected_gene': 'GC05P072869', 'score': 0.34}]
chr5 GH05I072823 72822001 72822719 0.93 [{'connected_gene': 'TNPO1', 'score': 1.57}, {'connected_gene': 'ENSG00000249085', 'score': 0.44}, {'connected_gene': 'GC05P072869', 'score': 0.25}]
chr5 GH05I073201 73201601 73202454 1.04 [{'connected_gene': 'LOC340090', 'score': 550.77}, {'connected_gene': 'ANKRA2', 'score': 15.88}, {'connected_gene': 'UTP15', 'score': 12.08}, {'connected_gene': 'TMEM174', 'score': 11.87}, {'connected_gene': 'TMEM171', 'score': 10.66}, {'connected_gene': 'TNPO1', 'score': 10.18}, {'connected_gene': 'LINC01386', 'score': 9.94}, {'connected_gene': 'ENSG00000249743', 'score': 0.39}]
chr5 GH05I072319 72319008 72321729 2.06 [{'connected_gene': 'MRPS27', 'score': 558.87}, {'connected_gene': 'PTCD2', 'score': 550.77}, {'connected_gene': 'FCHO2', 'score': 41.54}, {'connected_gene': 'TNPO1', 'score': 30.46}, {'connected_gene': 'BDP1', 'score': 27.53}, {'connected_gene': 'RPL7P22', 'score': 12.5}]
chr5 GH05I073114 73114714 73121237 2 [{'connected_gene': 'TMEM171', 'score': 560.92}, {'connected_gene': 'ANKRA2', 'score': 15.88}, {'connected_gene': 'UTP15', 'score': 12.08}, {'connected_gene': 'TNPO1', 'score': 10.18}, {'connected_gene': 'ENSG00000249085', 'score': 7.44}, {'connected_gene': 'ARHGEF28', 'score': 5.81}, {'connected_gene': 'GC05M073090', 'score': 0.77}]
chr5 GH05I072869 72869968 72873578 0.38 [{'connected_gene': 'FCHO2', 'score': 14.44}, {'connected_gene': 'ENSG00000249085', 'score': 11.87}, {'connected_gene': 'GC05P072869', 'score': 0.77}, {'connected_gene': 'MIR4804', 'score': 0.44}, {'connected_gene': 'TNPO1', 'score': 0.22}]
chr5 GH05I073387 73387304 73388714 1.01 [{'connected_gene': 'BTF3', 'score': 15.86}, {'connected_gene': 'TNPO1', 'score': 14.28}, {'connected_gene': 'ANKRA2', 'score': 13.06}, {'connected_gene': 'FCHO2', 'score': 11.61}, {'connected_gene': 'UTP15', 'score': 10.48}, {'connected_gene': 'GC05P073385', 'score': 0.77}, {'connected_gene': 'ENSG00000249149', 'score': 0.44}, {'connected_gene': 'FOXD1-AS1', 'score': 0.22}]
chr5 GH05I072555 72555606 72558835 1.38 [{'connected_gene': 'LOC102503427', 'score': 550.77}, {'connected_gene': 'TNPO1', 'score': 13.82}, {'connected_gene': 'ENSG00000249085', 'score': 11.1}, {'connected_gene': 'ZNF366', 'score': 10.36}, {'connected_gene': 'MAP1B', 'score': 4.11}, {'connected_gene': 'GC05P072582', 'score': 0.34}]
chr5 GH05I072815 72815021 72819690 2.05 [{'connected_gene': 'ENSG00000249085', 'score': 564.01}, {'connected_gene': 'GC05M072783', 'score': 550.77}, {'connected_gene': 'TNPO1', 'score': 550.77}, {'connected_gene': 'UTP15', 'score': 14.06}, {'connected_gene': 'FCHO2', 'score': 13.89}, {'connected_gene': 'ANKRA2', 'score': 11.75}, {'connected_gene': 'RPL7P22', 'score': 10.77}, {'connected_gene': 'MRPS27', 'score': 10.2}, {'connected_gene': 'ENSG00000272081', 'score': 6.17}, {'connected_gene': 'GC05P072869', 'score': 0.23}]
chr5 GH05I072860 72860694 72860763 0.31 [{'connected_gene': 'GC05P072869', 'score': 0.44}, {'connected_gene': 'ENSG00000249085', 'score': 0.26}, {'connected_gene': 'TNPO1', 'score': 0.26}]
chr5 GH05I072822 72822801 72823000 0.31 [{'connected_gene': 'ENSG00000249085', 'score': 0.44}, {'connected_gene': 'TNPO1', 'score': 0.44}, {'connected_gene': 'GC05P072869', 'score': 0.25}]
chr5 GH05I072837 72837559 72839274 0.43 [{'connected_gene': 'ENSG00000249085', 'score': 0.34}, {'connected_gene': 'TNPO1', 'score': 0.34}, {'connected_gene': 'GC05P072869', 'score': 0.29}]
chr5 GH05I072911 72911635 72911842 0.4 [{'connected_gene': 'GC05P072911', 'score': 550.77}, {'connected_gene': 'GC05M072921', 'score': 0.37}, {'connected_gene': 'TNPO1', 'score': 0.15}]
chr5 GH05I072856 72856554 72858360 0.2 [{'connected_gene': 'ENSG00000272081', 'score': 7.25}, {'connected_gene': 'GC05P072869', 'score': 0.39}, {'connected_gene': 'ENSG00000249085', 'score': 0.26}, {'connected_gene': 'TNPO1', 'score': 0.26}]
chr5 GH05I072840 72840905 72844904 1.53 [{'connected_gene': 'ENSG00000249085', 'score': 23.58}, {'connected_gene': 'FCHO2', 'score': 14.38}, {'connected_gene': 'TNPO1', 'score': 13.88}, {'connected_gene': 'ARHGEF28', 'score': 4.46}, {'connected_gene': 'GC05P072869', 'score': 0.31}]
chr5 GH05I073443 73443117 73449437 2.14 [{'connected_gene': 'GC05M073447', 'score': 550.77}, {'connected_gene': 'FOXD1-AS1', 'score': 550.77}, {'connected_gene': 'FOXD1', 'score': 550.77}, {'connected_gene': 'GC05M073448', 'score': 550.77}, {'connected_gene': 'ANKRA2', 'score': 18.52}, {'connected_gene': 'UTP15', 'score': 12.16}, {'connected_gene': 'TNPO1', 'score': 10.15}, {'connected_gene': 'BTF3', 'score': 8.53}, {'connected_gene': 'GC05M073449', 'score': 0.31}, {'connected_gene': 'GC05P073385', 'score': 0.21}]
chr5 GH05I072910 72910190 72910401 0.4 [{'connected_gene': 'GC05P072911', 'score': 550.77}, {'connected_gene': 'RPL35AP13', 'score': 0.29}, {'connected_gene': 'TNPO1', 'score': 0.16}]
chr5 GH05I072908 72908704 72908916 0.4 [{'connected_gene': 'GC05P072911', 'score': 0.77}, {'connected_gene': 'RPL35AP13', 'score': 0.31}, {'connected_gene': 'TNPO1', 'score': 0.16}]

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