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
ENST00000230882 [[42423878, 42424057], [42565965, 42566046], [42629139, 42629205], [42688991, 42689121], [42695018, 42695191], [42699925, 42700104], [42711308, 42711474], [42713530, 42713621], [42718153, 42718223], [42718554, 42721979]] [[42565976, 42566046], [42629139, 42629205], [42688991, 42689121], [42695018, 42695191], [42699925, 42700104], [42711308, 42711474], [42713530, 42713621], [42718153, 42718223], [42718554, 42719526]]
ENST00000357703 [[42424025, 42424057], [42565965, 42566046], [42688991, 42689121], [42695018, 42695191], [42699925, 42700104], [42711308, 42711474], [42713530, 42713621], [42718153, 42718223], [42718554, 42721925]] [[42565976, 42566046], [42688991, 42689121], [42695018, 42695191], [42699925, 42700104], [42711308, 42711474], [42713530, 42713621], [42718153, 42718223], [42718554, 42719526]]
ENST00000513671 [[42424619, 42424700], [42565965, 42566046], [42629139, 42629205], [42646433, 42646465], [42647753, 42647898], [42659305, 42659466]] [[42565976, 42566046], [42629139, 42629205], [42646433, 42646465], [42647753, 42647774]]
ENST00000505006 [[42514248, 42514466], [42514968, 42515114], [42565965, 42566046], [42619753, 42619923]] None
ENST00000511135 [[42565957, 42566046], [42629139, 42629205], [42695018, 42695191], [42699925, 42700104], [42711308, 42711474], [42713530, 42713621], [42718153, 42718223], [42718554, 42719893]] [[42565976, 42566046], [42629139, 42629205], [42695018, 42695140]]
ENST00000537449 [[42565957, 42566046], [42629139, 42629205], [42695018, 42695191], [42699925, 42700104], [42711308, 42711474], [42713530, 42713621], [42718153, 42718223], [42718554, 42719893]] [[42700047, 42700104], [42711308, 42711474], [42713530, 42713621], [42718153, 42718223], [42718554, 42719526]]
ENST00000513625 [[42713968, 42714318], [42718153, 42718223], [42718554, 42718916]] None
NM_000163 [[42423876, 42424057], [42565965, 42566046], [42629139, 42629205], [42688991, 42689121], [42695018, 42695191], [42699925, 42700104], [42711308, 42711474], [42713530, 42713621], [42718153, 42718223], [42718554, 42721980]] [[42565976, 42566046], [42629139, 42629205], [42688991, 42689121], [42695018, 42695191], [42699925, 42700104], [42711308, 42711474], [42713530, 42713621], [42718153, 42718223], [42718554, 42719526]]
NM_001242399 [[42424553, 42424700], [42565965, 42566046], [42629139, 42629205], [42688991, 42689121], [42695018, 42695191], [42699925, 42700104], [42711308, 42711474], [42713530, 42713621], [42718153, 42718223], [42718554, 42721980]] [[42424690, 42424700], [42565965, 42566046], [42629139, 42629205], [42688991, 42689121], [42695018, 42695191], [42699925, 42700104], [42711308, 42711474], [42713530, 42713621], [42718153, 42718223], [42718554, 42719526]]
NM_001242400 [[42424553, 42424700], [42514181, 42514466], [42565965, 42566046], [42629139, 42629205], [42688991, 42689121], [42695018, 42695191], [42699925, 42700104], [42711308, 42711474], [42713530, 42713621], [42718153, 42718223], [42718554, 42721980]] [[42565976, 42566046], [42629139, 42629205], [42688991, 42689121], [42695018, 42695191], [42699925, 42700104], [42711308, 42711474], [42713530, 42713621], [42718153, 42718223], [42718554, 42719526]]
NM_001242401 [[42425093, 42425140], [42483338, 42483431], [42565965, 42566046], [42629139, 42629205], [42688991, 42689121], [42695018, 42695191], [42699925, 42700104], [42711308, 42711474], [42713530, 42713621], [42718153, 42718223], [42718554, 42721980]] [[42565976, 42566046], [42629139, 42629205], [42688991, 42689121], [42695018, 42695191], [42699925, 42700104], [42711308, 42711474], [42713530, 42713621], [42718153, 42718223], [42718554, 42719526]]
NM_001242402 [[42548144, 42548253], [42565965, 42566046], [42629139, 42629205], [42688991, 42689121], [42695018, 42695191], [42699925, 42700104], [42711308, 42711474], [42713530, 42713621], [42718153, 42718223], [42718554, 42721980]] [[42565976, 42566046], [42629139, 42629205], [42688991, 42689121], [42695018, 42695191], [42699925, 42700104], [42711308, 42711474], [42713530, 42713621], [42718153, 42718223], [42718554, 42719526]]
NM_001242403 [[42548314, 42548631], [42565965, 42566046], [42629139, 42629205], [42688991, 42689121], [42695018, 42695191], [42699925, 42700104], [42711308, 42711474], [42713530, 42713621], [42718153, 42718223], [42718554, 42721980]] [[42565976, 42566046], [42629139, 42629205], [42688991, 42689121], [42695018, 42695191], [42699925, 42700104], [42711308, 42711474], [42713530, 42713621], [42718153, 42718223], [42718554, 42719526]]
NM_001242404 [[42549657, 42549799], [42565965, 42566046], [42629139, 42629205], [42688991, 42689121], [42695018, 42695191], [42699925, 42700104], [42711308, 42711474], [42713530, 42713621], [42718153, 42718223], [42718554, 42721980]] [[42565976, 42566046], [42629139, 42629205], [42688991, 42689121], [42695018, 42695191], [42699925, 42700104], [42711308, 42711474], [42713530, 42713621], [42718153, 42718223], [42718554, 42719526]]
NM_001242405 [[42550181, 42550218], [42565965, 42566046], [42629139, 42629205], [42688991, 42689121], [42695018, 42695191], [42699925, 42700104], [42711308, 42711474], [42713530, 42713621], [42718153, 42718223], [42718554, 42721980]] [[42565976, 42566046], [42629139, 42629205], [42688991, 42689121], [42695018, 42695191], [42699925, 42700104], [42711308, 42711474], [42713530, 42713621], [42718153, 42718223], [42718554, 42719526]]
NM_001242406 [[42565562, 42566046], [42629139, 42629205], [42688991, 42689121], [42695018, 42695191], [42699925, 42700104], [42711308, 42711474], [42713530, 42713621], [42718153, 42718223], [42718554, 42721980]] [[42565976, 42566046], [42629139, 42629205], [42688991, 42689121], [42695018, 42695191], [42699925, 42700104], [42711308, 42711474], [42713530, 42713621], [42718153, 42718223], [42718554, 42719526]]
NM_001242460 [[42565965, 42566046], [42688991, 42689121], [42695018, 42695191], [42699925, 42700104], [42711308, 42711474], [42713530, 42713621], [42718153, 42718223], [42718554, 42721980]] [[42565976, 42566046], [42688991, 42689121], [42695018, 42695191], [42699925, 42700104], [42711308, 42711474], [42713530, 42713621], [42718153, 42718223], [42718554, 42719526]]
NM_001242462 [[42565965, 42566046], [42629139, 42629205], [42688991, 42689121], [42695018, 42695191], [42699925, 42700104], [42711308, 42711474], [42713530, 42713621], [42718554, 42721980]] [[42565976, 42566046], [42629139, 42629205], [42688991, 42689121], [42695018, 42695191], [42699925, 42700104], [42711308, 42711474], [42713530, 42713621], [42718554, 42718567]]
Promoter
Chrom Start End Description
chr5 42423535 42423601 CAGE_peak_1_at_GHR_5end
chr5 42423617 42423628 CAGE_peak_7_at_GHR_5end
chr5 42423806 42423824 CAGE_peak_4_at_GHR_5end
chr5 42423828 42423852 CAGE_peak_2_at_GHR_5end
chr5 42423855 42423869 CAGE_peak_5_at_GHR_5end
chr5 42423872 42423918 CAGE_peak_3_at_GHR_5end
chr5 42425077 42425089 CAGE_peak_11_at_GHR_5end
chr5 42548293 42548306 CAGE_peak_12_at_GHR_5end
chr5 42548413 42548417 CAGE_peak_14_at_GHR_5end
chr5 42548542 42548563 CAGE_peak_6_at_GHR_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I043006 43006792 43012313 2.14 [{'connected_gene': 'ZNF131', 'score': 30.9}, {'connected_gene': 'ANXA2R', 'score': 17.8}, {'connected_gene': 'LOC153684', 'score': 13.81}, {'connected_gene': 'ENSG00000249492', 'score': 10.25}, {'connected_gene': 'TMEM267', 'score': 9.72}, {'connected_gene': 'ENSG00000271788', 'score': 6.0}, {'connected_gene': 'AMD1P3', 'score': 5.23}, {'connected_gene': 'GHR', 'score': 1.11}, {'connected_gene': 'PIR61621', 'score': 0.77}]
chr5 GH05I042837 42837674 42837883 0.34 [{'connected_gene': 'SELENOP', 'score': 22.75}, {'connected_gene': 'PPIAP77', 'score': 11.04}, {'connected_gene': 'GHR', 'score': 1.8}, {'connected_gene': 'ENSG00000272234', 'score': 0.29}]
chr5 GH05I042839 42839970 42840999 0.95 [{'connected_gene': 'SELENOP', 'score': 11.45}, {'connected_gene': 'PPIAP77', 'score': 11.43}, {'connected_gene': 'GHR', 'score': 5.68}, {'connected_gene': 'ENSG00000272234', 'score': 0.29}]
chr5 GH05I042807 42807232 42814348 2.21 [{'connected_gene': 'SELENOP', 'score': 561.0}, {'connected_gene': 'CCDC152', 'score': 19.76}, {'connected_gene': 'PPIAP77', 'score': 10.99}, {'connected_gene': 'GHR', 'score': 5.61}, {'connected_gene': 'LOC648987', 'score': 4.64}, {'connected_gene': 'ENSG00000272234', 'score': 0.77}]
chr5 GH05I042359 42359931 42361748 0.38 [{'connected_gene': 'OXCT1', 'score': 5.11}, {'connected_gene': 'GC05M042277', 'score': 0.25}, {'connected_gene': 'GHR', 'score': 0.21}]
chr5 GH05I042422 42422840 42425409 2.14 [{'connected_gene': 'GHR', 'score': 557.39}, {'connected_gene': 'ZNF131', 'score': 11.07}, {'connected_gene': 'OXCT1-AS1', 'score': 9.82}, {'connected_gene': 'C5orf51', 'score': 9.77}, {'connected_gene': 'ENSG00000250860', 'score': 0.26}]
chr5 GH05I042530 42530019 42532909 0.31 [{'connected_gene': 'GHR', 'score': 7.13}, {'connected_gene': 'OXCT1', 'score': 4.11}, {'connected_gene': 'GC05P042548', 'score': 0.37}, {'connected_gene': 'GC05P042485', 'score': 0.25}, {'connected_gene': 'GC05P042487', 'score': 0.25}]
chr5 GH05I042470 42470446 42473370 0.2 [{'connected_gene': 'GHR', 'score': 6.62}, {'connected_gene': 'SERBP1P6', 'score': 0.77}, {'connected_gene': 'GC05P042486', 'score': 0.39}, {'connected_gene': 'GC05P042484', 'score': 0.39}]
chr5 GH05I042465 42465828 42466217 0.72 [{'connected_gene': 'GHR', 'score': 558.94}, {'connected_gene': 'SERBP1P6', 'score': 0.77}, {'connected_gene': 'ENSG00000250860', 'score': 0.77}]
chr5 GH05I042442 42442371 42443960 0.2 [{'connected_gene': 'GHR', 'score': 0.37}, {'connected_gene': 'ENSG00000250860', 'score': 0.31}]
chr5 GH05I042429 42429019 42431062 0.2 [{'connected_gene': 'GHR', 'score': 7.0}, {'connected_gene': 'ENSG00000250860', 'score': 0.28}]
chr5 GH05I042456 42456354 42457625 0.2 [{'connected_gene': 'GHR', 'score': 6.61}, {'connected_gene': 'ENSG00000250860', 'score': 0.39}]
chr5 GH05I042432 42432322 42437534 0.38 [{'connected_gene': 'GHR', 'score': 7.28}, {'connected_gene': 'ENSG00000250860', 'score': 0.29}]
chr5 GH05I042451 42451925 42454274 0.2 [{'connected_gene': 'GHR', 'score': 6.31}, {'connected_gene': 'ENSG00000250860', 'score': 0.37}]
chr5 GH05I042444 42444049 42447430 0.2 [{'connected_gene': 'GHR', 'score': 18.36}, {'connected_gene': 'ENSG00000250860', 'score': 0.34}]
chr5 GH05I042439 42439049 42440286 0.2 [{'connected_gene': 'GHR', 'score': 6.75}, {'connected_gene': 'ENSG00000250860', 'score': 0.31}]
chr5 GH05I042583 42583016 42585428 0.92 [{'connected_gene': 'FBXO4', 'score': 4.84}, {'connected_gene': 'GHR', 'score': 4.15}, {'connected_gene': 'GC05M042543', 'score': 0.31}, {'connected_gene': 'GC05P042548', 'score': 0.28}]
chr5 GH05I042576 42576498 42581523 0.62 [{'connected_gene': 'FBXO4', 'score': 4.77}, {'connected_gene': 'GC05P042548', 'score': 0.29}, {'connected_gene': 'GC05M042543', 'score': 0.29}, {'connected_gene': 'GHR', 'score': 0.1}]
chr5 GH05I042468 42468880 42470237 0.31 [{'connected_gene': 'SERBP1P6', 'score': 550.77}, {'connected_gene': 'ENSG00000250860', 'score': 550.77}, {'connected_gene': 'LOC100419545', 'score': 550.77}, {'connected_gene': 'GHR', 'score': 6.42}, {'connected_gene': 'GC05P042486', 'score': 0.39}, {'connected_gene': 'GC05P042484', 'score': 0.39}]
chr5 GH05I042850 42850909 42856216 0.82 [{'connected_gene': 'CCDC152', 'score': 14.44}, {'connected_gene': 'SELENOP', 'score': 11.56}, {'connected_gene': 'PPIAP77', 'score': 11.54}, {'connected_gene': 'GHR', 'score': 5.7}, {'connected_gene': 'ENSG00000272234', 'score': 0.25}]
chr5 GH05I042518 42518471 42520000 0.58 [{'connected_gene': 'CCDC152', 'score': 5.22}, {'connected_gene': 'OXCT1', 'score': 4.57}, {'connected_gene': 'GC05P042548', 'score': 0.31}, {'connected_gene': 'GC05P042485', 'score': 0.29}, {'connected_gene': 'GC05P042487', 'score': 0.29}, {'connected_gene': 'GHR', 'score': 0.15}]
chr5 GH05I042720 42720201 42721250 0.38 [{'connected_gene': 'CCDC152', 'score': 7.74}, {'connected_gene': 'GHR', 'score': 5.61}, {'connected_gene': 'OXCT1', 'score': 4.59}, {'connected_gene': 'PIR62948', 'score': 0.44}, {'connected_gene': 'GC05M042543', 'score': 0.14}]
chr5 GH05I042621 42621001 42622400 0.77 [{'connected_gene': 'CCDC152', 'score': 11.33}, {'connected_gene': 'GC05M042543', 'score': 0.44}, {'connected_gene': 'PIR62948', 'score': 0.14}, {'connected_gene': 'GHR', 'score': 0.08}]
chr5 GH05I042756 42756601 42757601 1.56 [{'connected_gene': 'CCDC152', 'score': 570.66}, {'connected_gene': 'GHR', 'score': 4.41}, {'connected_gene': 'GC05M042801', 'score': 0.26}]
chr5 GH05I042596 42596457 42601759 0.78 [{'connected_gene': 'CCDC152', 'score': 4.48}, {'connected_gene': 'GC05M042543', 'score': 0.39}, {'connected_gene': 'GC05P042548', 'score': 0.23}, {'connected_gene': 'GHR', 'score': 0.1}]
chr5 GH05I042507 42507646 42508343 0.66 [{'connected_gene': 'CCDC152', 'score': 5.53}, {'connected_gene': 'GC05P042485', 'score': 0.34}, {'connected_gene': 'GC05P042487', 'score': 0.34}, {'connected_gene': 'GC05P042548', 'score': 0.26}, {'connected_gene': 'GHR', 'score': 0.18}]
chr5 GH05I042631 42631705 42633343 0.2 [{'connected_gene': 'CCDC152', 'score': 5.58}, {'connected_gene': 'GC05M042543', 'score': 0.37}, {'connected_gene': 'PIR62948', 'score': 0.15}, {'connected_gene': 'GHR', 'score': 0.08}]
chr5 GH05I042656 42656601 42656800 0.43 [{'connected_gene': 'CCDC152', 'score': 10.74}, {'connected_gene': 'GC05M042543', 'score': 0.26}, {'connected_gene': 'PIR62948', 'score': 0.19}, {'connected_gene': 'GHR', 'score': 0.07}]
chr5 GH05I042483 42483147 42486633 0.38 [{'connected_gene': 'GC05P042486', 'score': 550.77}, {'connected_gene': 'GC05P042484', 'score': 550.77}, {'connected_gene': 'GC05P042485', 'score': 550.77}, {'connected_gene': 'GC05P042487', 'score': 550.77}, {'connected_gene': 'GHR', 'score': 7.29}, {'connected_gene': 'FBXO4', 'score': 4.1}]
chr5 GH05I042548 42548150 42548209 0.93 [{'connected_gene': 'GC05P042548', 'score': 550.77}, {'connected_gene': 'GHR', 'score': 550.13}, {'connected_gene': 'GC05P042485', 'score': 0.21}, {'connected_gene': 'GC05P042487', 'score': 0.21}, {'connected_gene': 'GC05M042543', 'score': 0.2}]
chr5 GH05I042590 42590451 42592164 1.05 [{'connected_gene': 'GC05M042543', 'score': 0.34}, {'connected_gene': 'GC05P042548', 'score': 0.26}, {'connected_gene': 'GHR', 'score': 0.1}]
chr5 GH05I042603 42603763 42604656 0.74 [{'connected_gene': 'GC05M042543', 'score': 0.44}, {'connected_gene': 'GC05P042548', 'score': 0.22}, {'connected_gene': 'GHR', 'score': 0.09}]
chr5 GH05I042616 42616372 42618100 0.31 [{'connected_gene': 'GC05M042543', 'score': 0.77}, {'connected_gene': 'PIR62948', 'score': 0.14}, {'connected_gene': 'GHR', 'score': 0.08}]
chr5 GH05I042560 42560135 42563223 0.31 [{'connected_gene': 'GC05P042548', 'score': 0.39}, {'connected_gene': 'GC05M042543', 'score': 0.23}, {'connected_gene': 'GHR', 'score': 0.12}]
chr5 GH05I042586 42586600 42586915 1.29 [{'connected_gene': 'GC05M042543', 'score': 0.31}, {'connected_gene': 'GC05P042548', 'score': 0.28}, {'connected_gene': 'GHR', 'score': 0.1}]
chr5 GH05I042460 42460757 42461955 0.43 [{'connected_gene': 'ENSG00000250860', 'score': 0.44}, {'connected_gene': 'GHR', 'score': 0.28}]
chr5 GH05I042508 42508769 42511300 0.2 [{'connected_gene': 'GC05P042485', 'score': 0.34}, {'connected_gene': 'GC05P042487', 'score': 0.34}, {'connected_gene': 'GC05P042548', 'score': 0.28}, {'connected_gene': 'GHR', 'score': 0.17}]
chr5 GH05I042566 42566119 42567478 0.69 [{'connected_gene': 'GC05P042548', 'score': 0.37}, {'connected_gene': 'GC05M042543', 'score': 0.25}, {'connected_gene': 'GHR', 'score': 0.11}]
chr5 GH05I042543 42543401 42545612 0.62 [{'connected_gene': 'GC05P042548', 'score': 0.77}, {'connected_gene': 'GC05P042485', 'score': 0.22}, {'connected_gene': 'GC05P042487', 'score': 0.22}, {'connected_gene': 'GC05M042543', 'score': 0.2}, {'connected_gene': 'GHR', 'score': 0.13}]
chr5 GH05I042491 42491801 42492000 0.58 [{'connected_gene': 'GC05P042485', 'score': 0.44}, {'connected_gene': 'GC05P042487', 'score': 0.44}, {'connected_gene': 'GC05P042548', 'score': 0.22}, {'connected_gene': 'GHR', 'score': 0.2}]
chr5 GH05I042689 42689539 42689688 0.43 [{'connected_gene': 'PIR62948', 'score': 0.28}, {'connected_gene': 'GC05M042543', 'score': 0.18}, {'connected_gene': 'GHR', 'score': 0.06}]
chr5 GH05I042564 42564888 42565851 0.63 [{'connected_gene': 'GC05P042548', 'score': 0.37}, {'connected_gene': 'GC05M042543', 'score': 0.25}, {'connected_gene': 'GHR', 'score': 0.11}]
chr5 GH05I042806 42806103 42806722 0.46 [{'connected_gene': 'ENSG00000272234', 'score': 550.77}, {'connected_gene': 'CCDC152', 'score': 20.29}, {'connected_gene': 'SELENOP', 'score': 10.78}, {'connected_gene': 'PPIAP77', 'score': 10.77}, {'connected_gene': 'GHR', 'score': 5.6}]
chr5 GH05I042610 42610953 42616208 0.6 [{'connected_gene': 'GC05M042543', 'score': 550.77}, {'connected_gene': 'CCDC152', 'score': 4.42}, {'connected_gene': 'PIR62948', 'score': 0.13}, {'connected_gene': 'GHR', 'score': 0.09}]

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