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
ENST00000609104 [[11495944, 11505848], [11523768, 11523921], [11526969, 11527069], [11527167, 11527233], [11527815, 11527910], [11531100, 11531221], [11532830, 11532879], [11535117, 11535227], [11543099, 11543207], [11551593, 11551674], [11560533, 11560573], [11567384, 11567467], [11569498, 11569566], [11639629, 11639716], [11653441, 11653753]] [[11504439, 11505848], [11523768, 11523921], [11526969, 11527069], [11527167, 11527233], [11527815, 11527910], [11531100, 11531221], [11532830, 11532879], [11535117, 11535227], [11543099, 11543207], [11551593, 11551674], [11560533, 11560573], [11567384, 11567467], [11569498, 11569566], [11639629, 11639633]]
ENST00000277575 [[11502508, 11505848], [11523768, 11523921], [11526969, 11527069], [11527167, 11527233], [11527815, 11527910], [11531100, 11531221], [11532830, 11532879], [11535117, 11535227], [11543099, 11543207], [11551593, 11551674], [11560533, 11560573], [11567384, 11567467], [11569498, 11569566], [11574176, 11574274]] [[11504439, 11505848], [11523768, 11523921], [11526969, 11527069], [11527167, 11527233], [11527815, 11527910], [11531100, 11531221], [11532830, 11532879], [11535117, 11535227], [11543099, 11543207], [11551593, 11551674], [11560533, 11560573], [11567384, 11567467], [11569498, 11569566], [11574176, 11574231]]
ENST00000379237 [[11502508, 11505848], [11523768, 11523921], [11526969, 11527069], [11527167, 11527233], [11527815, 11527910], [11531100, 11531221], [11532830, 11532879], [11535117, 11535227], [11543099, 11543207], [11551593, 11551674], [11560533, 11560573], [11567384, 11567467], [11569498, 11569566], [11615604, 11615736]] [[11504439, 11505848], [11523768, 11523921], [11526969, 11527069], [11527167, 11527233], [11527815, 11527910], [11531100, 11531221], [11532830, 11532879], [11535117, 11535227], [11543099, 11543207], [11551593, 11551674], [11560533, 11560573], [11567384, 11567467], [11569498, 11569566], [11615604, 11615677]]
ENST00000443016 [[11605185, 11607637], [11615456, 11615495]] None
ENST00000609853 [[11606125, 11607637], [11615604, 11615840]] [[11607563, 11607637], [11615604, 11615677]]
ENST00000606752 [[11606125, 11607637], [11639629, 11639716], [11653441, 11653665]] None
NM_001080491 [[11502508, 11505848], [11523768, 11523921], [11526969, 11527069], [11527167, 11527233], [11527815, 11527910], [11531100, 11531221], [11532830, 11532879], [11535117, 11535227], [11543099, 11543207], [11551593, 11551674], [11560533, 11560573], [11567384, 11567467], [11569498, 11569566], [11574176, 11574279]] [[11504439, 11505848], [11523768, 11523921], [11526969, 11527069], [11527167, 11527233], [11527815, 11527910], [11531100, 11531221], [11532830, 11532879], [11535117, 11535227], [11543099, 11543207], [11551593, 11551674], [11560533, 11560573], [11567384, 11567467], [11569498, 11569566], [11574176, 11574231]]
NM_014688 [[11502508, 11505848], [11523768, 11523921], [11526969, 11527069], [11527167, 11527233], [11527815, 11527910], [11531100, 11531221], [11532830, 11532879], [11535117, 11535227], [11543099, 11543207], [11551593, 11551674], [11560533, 11560573], [11567384, 11567467], [11569498, 11569566], [11639629, 11639716], [11653441, 11653788]] [[11504439, 11505848], [11523768, 11523921], [11526969, 11527069], [11527167, 11527233], [11527815, 11527910], [11531100, 11531221], [11532830, 11532879], [11535117, 11535227], [11543099, 11543207], [11551593, 11551674], [11560533, 11560573], [11567384, 11567467], [11569498, 11569566], [11639629, 11639633]]
NR_125732 [[11606122, 11607637], [11639629, 11639716], [11653441, 11653788]] None
Promoter
Chrom Start End Description
chr10 11574383 11574428 CAGE_peak_5_at_USP6NL_5end
chr10 11653560 11653673 CAGE_peak_1_at_USP6NL_5end
chr10 11653684 11653696 CAGE_peak_3_at_USP6NL_5end
chr10 11653763 11653806 CAGE_peak_2_at_USP6NL_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I011606 11606777 11613213 2.52 [{'connected_gene': 'USP6NL', 'score': 560.55}, {'connected_gene': 'ENSG00000271360', 'score': 550.77}, {'connected_gene': 'ECHDC3', 'score': 11.8}, {'connected_gene': 'CELF2', 'score': 2.43}, {'connected_gene': 'PIR55348', 'score': 0.77}, {'connected_gene': 'GC10P011612', 'score': 0.77}, {'connected_gene': 'GC10P011559', 'score': 0.23}]
chr10 GH10I011726 11726022 11726171 0.2 [{'connected_gene': 'USP6NL', 'score': 12.19}, {'connected_gene': 'ECHDC3', 'score': 0.37}, {'connected_gene': 'LOC105376413', 'score': 0.26}]
chr10 GH10I011725 11725322 11725471 0.83 [{'connected_gene': 'USP6NL', 'score': 12.19}, {'connected_gene': 'ECHDC3', 'score': 0.37}, {'connected_gene': 'LOC105376413', 'score': 0.26}]
chr10 GH10I011695 11695082 11695224 0.39 [{'connected_gene': 'USP6NL', 'score': 11.76}, {'connected_gene': 'ECHDC3', 'score': 11.52}, {'connected_gene': 'LOC105376413', 'score': 0.39}]
chr10 GH10I011667 11667801 11668200 0.51 [{'connected_gene': 'USP6NL', 'score': 11.74}, {'connected_gene': 'ECHDC3', 'score': 10.97}, {'connected_gene': 'LOC105376412', 'score': 0.77}, {'connected_gene': 'LOC105376413', 'score': 0.39}, {'connected_gene': 'PIR55348', 'score': 0.22}, {'connected_gene': 'GC10P011612', 'score': 0.22}]
chr10 GH10I011668 11668839 11669498 0.69 [{'connected_gene': 'USP6NL', 'score': 11.74}, {'connected_gene': 'ECHDC3', 'score': 10.97}, {'connected_gene': 'LOC105376412', 'score': 0.77}, {'connected_gene': 'LOC105376413', 'score': 0.39}, {'connected_gene': 'PIR55348', 'score': 0.22}, {'connected_gene': 'GC10P011612', 'score': 0.22}]
chr10 GH10I011669 11669601 11669800 0.4 [{'connected_gene': 'USP6NL', 'score': 11.74}, {'connected_gene': 'ECHDC3', 'score': 10.97}, {'connected_gene': 'LOC105376412', 'score': 0.77}, {'connected_gene': 'LOC105376413', 'score': 0.39}, {'connected_gene': 'PIR55348', 'score': 0.22}, {'connected_gene': 'GC10P011612', 'score': 0.22}]
chr10 GH10I011639 11639969 11640876 1 [{'connected_gene': 'USP6NL', 'score': 11.76}, {'connected_gene': 'ECHDC3', 'score': 11.13}, {'connected_gene': 'PIR55348', 'score': 0.31}, {'connected_gene': 'GC10P011612', 'score': 0.31}, {'connected_gene': 'LOC105376412', 'score': 0.29}, {'connected_gene': 'LOC105376413', 'score': 0.26}]
chr10 GH10I011631 11631822 11632735 1.12 [{'connected_gene': 'USP6NL', 'score': 11.91}, {'connected_gene': 'ECHDC3', 'score': 11.54}, {'connected_gene': 'PIR55348', 'score': 0.34}, {'connected_gene': 'GC10P011612', 'score': 0.34}, {'connected_gene': 'LOC105376412', 'score': 0.26}]
chr10 GH10I011547 11547132 11547853 0.98 [{'connected_gene': 'USP6NL', 'score': 12.05}, {'connected_gene': 'ECHDC3', 'score': 11.43}, {'connected_gene': 'GC10P011559', 'score': 0.39}, {'connected_gene': 'GC10M011466', 'score': 0.25}]
chr10 GH10I011531 11531672 11534613 1.66 [{'connected_gene': 'USP6NL', 'score': 567.26}, {'connected_gene': 'ECHDC3', 'score': 11.87}, {'connected_gene': 'GC10P011559', 'score': 0.31}, {'connected_gene': 'GC10M011466', 'score': 0.29}]
chr10 GH10I011564 11564012 11564711 0.4 [{'connected_gene': 'USP6NL', 'score': 12.34}, {'connected_gene': 'ECHDC3', 'score': 10.63}, {'connected_gene': 'GC10P011559', 'score': 0.77}, {'connected_gene': 'ENSG00000271360', 'score': 0.25}]
chr10 GH10I011519 11519687 11524167 0.83 [{'connected_gene': 'USP6NL', 'score': 17.42}, {'connected_gene': 'ECHDC3', 'score': 12.04}, {'connected_gene': 'GC10M011466', 'score': 0.34}, {'connected_gene': 'GC10P011559', 'score': 0.28}]
chr10 GH10I011563 11563822 11563971 0.4 [{'connected_gene': 'USP6NL', 'score': 12.34}, {'connected_gene': 'ECHDC3', 'score': 10.63}, {'connected_gene': 'GC10P011559', 'score': 0.77}, {'connected_gene': 'ENSG00000271360', 'score': 0.25}]
chr10 GH10I011527 11527801 11529004 0.92 [{'connected_gene': 'USP6NL', 'score': 11.81}, {'connected_gene': 'ECHDC3', 'score': 11.0}, {'connected_gene': 'GC10M011466', 'score': 0.29}, {'connected_gene': 'GC10P011559', 'score': 0.29}]
chr10 GH10I011551 11551163 11555334 1.26 [{'connected_gene': 'USP6NL', 'score': 12.53}, {'connected_gene': 'UPF2', 'score': 11.06}, {'connected_gene': 'ECHDC3', 'score': 10.79}, {'connected_gene': 'GC10P011559', 'score': 0.44}, {'connected_gene': 'GC10M011466', 'score': 0.22}]
chr10 GH10I011704 11704688 11704941 0.22 [{'connected_gene': 'USP6NL', 'score': 7.29}, {'connected_gene': 'LOC105376413', 'score': 0.34}, {'connected_gene': 'ECHDC3', 'score': 0.28}]
chr10 GH10I011663 11663758 11665099 0.85 [{'connected_gene': 'USP6NL', 'score': 11.45}, {'connected_gene': 'LOC105376412', 'score': 0.44}, {'connected_gene': 'LOC105376413', 'score': 0.37}, {'connected_gene': 'PIR55348', 'score': 0.23}, {'connected_gene': 'GC10P011612', 'score': 0.23}]
chr10 GH10I011573 11573270 11574406 1.04 [{'connected_gene': 'USP6NL', 'score': 12.75}, {'connected_gene': 'GC10P011559', 'score': 0.39}, {'connected_gene': 'ENSG00000271360', 'score': 0.28}]
chr10 GH10I011586 11586302 11586451 0.62 [{'connected_gene': 'USP6NL', 'score': 12.46}, {'connected_gene': 'ENSG00000271360', 'score': 0.34}, {'connected_gene': 'GC10P011559', 'score': 0.31}]
chr10 GH10I011578 11578337 11579605 0.9 [{'connected_gene': 'USP6NL', 'score': 12.77}, {'connected_gene': 'GC10P011559', 'score': 0.37}, {'connected_gene': 'ENSG00000271360', 'score': 0.29}]
chr10 GH10I011624 11624582 11625645 1.29 [{'connected_gene': 'ECHDC3', 'score': 11.89}, {'connected_gene': 'USP6NL', 'score': 2.74}, {'connected_gene': 'CELF2', 'score': 1.95}, {'connected_gene': 'PIR55348', 'score': 0.39}, {'connected_gene': 'GC10P011612', 'score': 0.39}, {'connected_gene': 'LOC105376412', 'score': 0.25}]
chr10 GH10I011715 11715393 11717003 0.92 [{'connected_gene': 'ECHDC3', 'score': 5.22}, {'connected_gene': 'USP6NL', 'score': 4.68}, {'connected_gene': 'LOC105376413', 'score': 0.29}]
chr10 GH10I011719 11719890 11720664 0.78 [{'connected_gene': 'ECHDC3', 'score': 13.06}, {'connected_gene': 'USP6NL', 'score': 11.96}, {'connected_gene': 'LOC105376413', 'score': 0.28}]
chr10 GH10I011662 11662142 11663075 1.09 [{'connected_gene': 'ECHDC3', 'score': 11.56}, {'connected_gene': 'USP6NL', 'score': 11.45}, {'connected_gene': 'ENSG00000271046', 'score': 5.67}, {'connected_gene': 'LOC105376412', 'score': 0.39}, {'connected_gene': 'LOC105376413', 'score': 0.37}, {'connected_gene': 'PIR55348', 'score': 0.23}, {'connected_gene': 'GC10P011612', 'score': 0.23}]
chr10 GH10I011513 11513862 11514025 0.61 [{'connected_gene': 'ECHDC3', 'score': 12.01}, {'connected_gene': 'USP6NL', 'score': 1.76}, {'connected_gene': 'GC10M011466', 'score': 0.37}, {'connected_gene': 'LOC105376410', 'score': 0.37}, {'connected_gene': 'GC10P011559', 'score': 0.25}]
chr10 GH10I011483 11483722 11483871 0.38 [{'connected_gene': 'ECHDC3', 'score': 10.29}, {'connected_gene': 'CELF2-AS1', 'score': 10.23}, {'connected_gene': 'GC10M011466', 'score': 0.39}, {'connected_gene': 'GC10P011496', 'score': 0.39}, {'connected_gene': 'LOC105376411', 'score': 0.34}, {'connected_gene': 'USP6NL', 'score': 0.13}]
chr10 GH10I011516 11515936 11516351 0.9 [{'connected_gene': 'ECHDC3', 'score': 12.01}, {'connected_gene': 'GC10M011466', 'score': 0.37}, {'connected_gene': 'LOC105376410', 'score': 0.37}, {'connected_gene': 'GC10P011559', 'score': 0.26}, {'connected_gene': 'USP6NL', 'score': 0.15}]
chr10 GH10I011517 11516358 11517151 0.8 [{'connected_gene': 'ECHDC3', 'score': 12.01}, {'connected_gene': 'GC10M011466', 'score': 0.37}, {'connected_gene': 'LOC105376410', 'score': 0.37}, {'connected_gene': 'GC10P011559', 'score': 0.26}, {'connected_gene': 'USP6NL', 'score': 0.15}]
chr10 GH10I011515 11515682 11515891 0.9 [{'connected_gene': 'ECHDC3', 'score': 12.01}, {'connected_gene': 'GC10M011466', 'score': 0.37}, {'connected_gene': 'LOC105376410', 'score': 0.37}, {'connected_gene': 'GC10P011559', 'score': 0.26}, {'connected_gene': 'USP6NL', 'score': 0.15}]
chr10 GH10I011601 11601726 11606460 1.45 [{'connected_gene': 'UPF2', 'score': 19.79}, {'connected_gene': 'ENSG00000228302', 'score': 12.11}, {'connected_gene': 'ENSG00000271360', 'score': 0.44}, {'connected_gene': 'USP6NL', 'score': 0.44}, {'connected_gene': 'GC10P011559', 'score': 0.26}]
chr10 GH10I012040 12040706 12044760 2.36 [{'connected_gene': 'UPF2', 'score': 556.72}, {'connected_gene': 'DHTKD1', 'score': 12.59}, {'connected_gene': 'PROSER2-AS1', 'score': 4.72}, {'connected_gene': 'USP6NL', 'score': 3.68}, {'connected_gene': 'CAMK1D', 'score': 3.37}, {'connected_gene': 'LOC105376416', 'score': 0.77}, {'connected_gene': 'GC10M012019', 'score': 0.34}]
chr10 GH10I011673 11673366 11674447 0.89 [{'connected_gene': 'LOC105376412', 'score': 550.77}, {'connected_gene': 'USP6NL', 'score': 12.33}, {'connected_gene': 'ENSG00000271046', 'score': 8.88}, {'connected_gene': 'GC10M011679', 'score': 0.44}, {'connected_gene': 'LOC105376413', 'score': 0.44}]
chr10 GH10I011469 11469270 11470312 0.58 [{'connected_gene': 'LOC105376411', 'score': 0.44}, {'connected_gene': 'GC10M011466', 'score': 0.31}, {'connected_gene': 'GC10P011496', 'score': 0.31}, {'connected_gene': 'USP6NL', 'score': 0.11}]
chr10 GH10I011473 11473339 11474091 0.2 [{'connected_gene': 'LOC105376411', 'score': 0.44}, {'connected_gene': 'GC10M011466', 'score': 0.34}, {'connected_gene': 'GC10P011496', 'score': 0.34}, {'connected_gene': 'USP6NL', 'score': 0.12}]
chr10 GH10I011468 11468242 11468391 0.2 [{'connected_gene': 'LOC105376411', 'score': 0.77}, {'connected_gene': 'GC10M011466', 'score': 0.31}, {'connected_gene': 'GC10P011496', 'score': 0.31}, {'connected_gene': 'USP6NL', 'score': 0.11}]
chr10 GH10I011471 11468412 11468811 0.2 [{'connected_gene': 'LOC105376411', 'score': 0.77}, {'connected_gene': 'GC10M011466', 'score': 0.31}, {'connected_gene': 'GC10P011496', 'score': 0.31}, {'connected_gene': 'USP6NL', 'score': 0.11}]
chr10 GH10I011472 11472262 11472431 0.68 [{'connected_gene': 'LOC105376411', 'score': 0.44}, {'connected_gene': 'GC10P011496', 'score': 0.34}, {'connected_gene': 'GC10M011466', 'score': 0.31}, {'connected_gene': 'USP6NL', 'score': 0.12}]
chr10 GH10I011594 11594405 11596091 1.15 [{'connected_gene': 'ENSG00000271360', 'score': 0.37}, {'connected_gene': 'USP6NL', 'score': 0.37}, {'connected_gene': 'GC10P011559', 'score': 0.28}]
chr10 GH10I011588 11588482 11589527 0.9 [{'connected_gene': 'ENSG00000271360', 'score': 0.34}, {'connected_gene': 'USP6NL', 'score': 0.34}, {'connected_gene': 'GC10P011559', 'score': 0.31}]
chr10 GH10I011540 11539001 11539401 1.12 [{'connected_gene': 'GC10P011559', 'score': 0.34}, {'connected_gene': 'GC10M011466', 'score': 0.26}, {'connected_gene': 'USP6NL', 'score': 0.19}]
chr10 GH10I011559 11559791 11561516 1.07 [{'connected_gene': 'GC10P011559', 'score': 550.77}, {'connected_gene': 'USP6NL', 'score': 17.66}, {'connected_gene': 'ENSG00000271360', 'score': 0.23}]
chr10 GH10I011539 11539422 11539711 1.14 [{'connected_gene': 'GC10P011559', 'score': 0.34}, {'connected_gene': 'GC10M011466', 'score': 0.26}, {'connected_gene': 'USP6NL', 'score': 0.19}]
chr10 GH10I011587 11587953 11588392 1.02 [{'connected_gene': 'ENSG00000271360', 'score': 0.34}, {'connected_gene': 'USP6NL', 'score': 0.34}, {'connected_gene': 'GC10P011559', 'score': 0.31}]
chr10 GH10I011681 11681168 11690650 1.45 [{'connected_gene': 'ENSG00000228302', 'score': 12.71}, {'connected_gene': 'ECHDC3', 'score': 12.16}, {'connected_gene': 'USP6NL', 'score': 12.08}, {'connected_gene': 'ENSG00000271046', 'score': 5.49}, {'connected_gene': 'LOC105376413', 'score': 0.77}]
chr10 GH10I011679 11679308 11680769 0.51 [{'connected_gene': 'GC10M011679', 'score': 550.77}, {'connected_gene': 'ENSG00000271046', 'score': 550.77}, {'connected_gene': 'LOC105376413', 'score': 550.77}, {'connected_gene': 'ECHDC3', 'score': 12.15}, {'connected_gene': 'USP6NL', 'score': 12.09}, {'connected_gene': 'LOC105376412', 'score': 0.44}]
chr10 GH10I011470 11470622 11470727 0.2 [{'connected_gene': 'ENSG00000271046', 'score': 4.81}, {'connected_gene': 'LOC105376411', 'score': 0.44}, {'connected_gene': 'GC10P011496', 'score': 0.34}, {'connected_gene': 'GC10M011466', 'score': 0.31}, {'connected_gene': 'USP6NL', 'score': 0.11}]
chr10 GH10I011504 11504682 11504831 0.38 [{'connected_gene': 'GC10M011466', 'score': 0.44}, {'connected_gene': 'LOC105376410', 'score': 0.44}, {'connected_gene': 'GC10P011559', 'score': 0.22}, {'connected_gene': 'USP6NL', 'score': 0.14}]

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