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
ENST00000437941 [[85109389, 85113290], [85116044, 85116210], [85117565, 85117680], [85121514, 85121688], [85122030, 85122167], [85124000, 85124151], [85127880, 85128058], [85128137, 85128213], [85130099, 85130235], [85131804, 85131915], [85135363, 85135576], [85136328, 85136498], [85155836, 85156151]] [[85113115, 85113290], [85116044, 85116210], [85117565, 85117680], [85121514, 85121688], [85122030, 85122167], [85124000, 85124151], [85127880, 85128058], [85128137, 85128213], [85130099, 85130235], [85131804, 85131915], [85135363, 85135576], [85136328, 85136460]]
ENST00000342203 [[85109389, 85113290], [85116044, 85116210], [85117565, 85117680], [85121514, 85121688], [85122030, 85122167], [85124000, 85124151], [85127880, 85128058], [85128137, 85128213], [85130099, 85130235], [85131804, 85131915], [85135363, 85135576], [85136328, 85136498], [85136859, 85136991], [85156053, 85156228]] [[85113115, 85113290], [85116044, 85116210], [85117565, 85117680], [85121514, 85121688], [85122030, 85122167], [85124000, 85124151], [85127880, 85128058], [85128137, 85128213], [85130099, 85130235], [85131804, 85131915], [85135363, 85135576], [85136328, 85136498], [85136859, 85136902]]
ENST00000481102 [[85113021, 85113290], [85115353, 85115631], [85116044, 85116210], [85117565, 85117680], [85121514, 85121688], [85122030, 85122167], [85124000, 85124151], [85127880, 85128058], [85128137, 85128213], [85130099, 85130235], [85131804, 85131915], [85135363, 85135576], [85136328, 85136498], [85136859, 85136991], [85155836, 85155987]] [[85115618, 85115631], [85116044, 85116210], [85117565, 85117680], [85121514, 85121688], [85122030, 85122167], [85124000, 85124151], [85127880, 85128058], [85128137, 85128213], [85130099, 85130235], [85131804, 85131915], [85135363, 85135576], [85136328, 85136498], [85136859, 85136902]]
ENST00000476905 [[85113023, 85113290], [85116044, 85116210], [85117565, 85117680], [85121147, 85121271], [85121514, 85121688], [85122030, 85122167], [85124000, 85124151], [85127880, 85128058], [85128137, 85128213], [85130099, 85130235], [85131804, 85131915], [85135363, 85135576], [85136328, 85136498], [85136871, 85136991], [85146020, 85146070], [85156356, 85156440]] [[85117666, 85117680], [85121147, 85121271], [85121514, 85121688], [85122030, 85122167], [85124000, 85124151], [85127880, 85128058], [85128137, 85128213], [85130099, 85130235], [85131804, 85131915], [85135363, 85135576], [85136328, 85136498], [85136871, 85136902]]
ENST00000605755 [[85113058, 85113290], [85116044, 85116210], [85117565, 85117680], [85121514, 85121688], [85122030, 85122167], [85124000, 85124151], [85127880, 85128058], [85128137, 85128213], [85130099, 85130235], [85131804, 85131915], [85135363, 85135576], [85136328, 85136498], [85156053, 85156127]] [[85113115, 85113290], [85116044, 85116210], [85117565, 85117680], [85121514, 85121688], [85122030, 85122167], [85124000, 85124151], [85127880, 85128058], [85128137, 85128213], [85130099, 85130235], [85131804, 85131915], [85135363, 85135576], [85136328, 85136460]]
ENST00000603677 [[85115312, 85116210], [85117565, 85117680], [85155836, 85155972]] [[85116007, 85116210], [85117565, 85117626]]
ENST00000370612 [[85115618, 85115631], [85116044, 85116210], [85117565, 85117680], [85121514, 85121688], [85122030, 85122167], [85124000, 85124151], [85127880, 85128058], [85128137, 85128213], [85130099, 85130235], [85131804, 85131915], [85135363, 85135576], [85136328, 85136498], [85136859, 85136991], [85156053, 85156240]] [[85115618, 85115631], [85116044, 85116210], [85117565, 85117680], [85121514, 85121688], [85122030, 85122167], [85124000, 85124151], [85127880, 85128058], [85128137, 85128213], [85130099, 85130235], [85131804, 85131915], [85135363, 85135576], [85136328, 85136498], [85136859, 85136902]]
ENST00000490476 [[85116053, 85116210], [85117565, 85118124]] None
ENST00000459708 [[85121000, 85121271], [85121514, 85121696]] None
ENST00000460500 [[85123889, 85124151], [85127880, 85128213], [85130099, 85130235], [85131804, 85131915], [85135363, 85136498], [85136859, 85136998]] None
ENST00000422026 [[85131801, 85131915], [85135363, 85135576], [85136328, 85136498], [85136859, 85136991], [85156356, 85156486]] [[85131801, 85131915], [85135363, 85135576], [85136328, 85136498], [85136859, 85136902]]
NM_001166417 [[85109389, 85113290], [85116044, 85116210], [85117565, 85117680], [85121514, 85121688], [85122030, 85122167], [85124000, 85124151], [85127880, 85128058], [85128137, 85128213], [85130099, 85130235], [85131804, 85131915], [85135363, 85135576], [85136328, 85136498], [85136859, 85136991], [85146020, 85146070], [85155836, 85156151]] [[85113115, 85113290], [85116044, 85116210], [85117565, 85117680], [85121514, 85121688], [85122030, 85122167], [85124000, 85124151], [85127880, 85128058], [85128137, 85128213], [85130099, 85130235], [85131804, 85131915], [85135363, 85135576], [85136328, 85136498], [85136859, 85136902]]
NM_001166295 [[85109389, 85113290], [85116044, 85116210], [85117565, 85117680], [85121514, 85121688], [85122030, 85122167], [85124000, 85124151], [85127880, 85128058], [85128137, 85128213], [85130099, 85130235], [85131804, 85131915], [85135363, 85135576], [85136328, 85136498], [85155836, 85156151]] [[85113115, 85113290], [85116044, 85116210], [85117565, 85117680], [85121514, 85121688], [85122030, 85122167], [85124000, 85124151], [85127880, 85128058], [85128137, 85128213], [85130099, 85130235], [85131804, 85131915], [85135363, 85135576], [85136328, 85136460]]
NM_014021 [[85109389, 85113290], [85116044, 85116210], [85117565, 85117680], [85121514, 85121688], [85122030, 85122167], [85124000, 85124151], [85127880, 85128058], [85128137, 85128213], [85130099, 85130235], [85131804, 85131915], [85135363, 85135576], [85136328, 85136498], [85136859, 85136991], [85146020, 85146070], [85156053, 85156240]] [[85113115, 85113290], [85116044, 85116210], [85117565, 85117680], [85121514, 85121688], [85122030, 85122167], [85124000, 85124151], [85127880, 85128058], [85128137, 85128213], [85130099, 85130235], [85131804, 85131915], [85135363, 85135576], [85136328, 85136498], [85136859, 85136902]]
NM_001166293 [[85109389, 85113290], [85116044, 85116210], [85117565, 85117680], [85121514, 85121688], [85122030, 85122167], [85124000, 85124151], [85127880, 85128058], [85128137, 85128213], [85130099, 85130235], [85131804, 85131915], [85135363, 85135576], [85136328, 85136498], [85136859, 85136991], [85156053, 85156240]] [[85113115, 85113290], [85116044, 85116210], [85117565, 85117680], [85121514, 85121688], [85122030, 85122167], [85124000, 85124151], [85127880, 85128058], [85128137, 85128213], [85130099, 85130235], [85131804, 85131915], [85135363, 85135576], [85136328, 85136498], [85136859, 85136902]]
NM_001166294 [[85109389, 85113290], [85116044, 85116210], [85117565, 85117680], [85121514, 85121688], [85122030, 85122167], [85124000, 85124151], [85127880, 85128058], [85128137, 85128213], [85130099, 85130235], [85131804, 85131915], [85135363, 85135576], [85136328, 85136498], [85156053, 85156240]] [[85113115, 85113290], [85116044, 85116210], [85117565, 85117680], [85121514, 85121688], [85122030, 85122167], [85124000, 85124151], [85127880, 85128058], [85128137, 85128213], [85130099, 85130235], [85131804, 85131915], [85135363, 85135576], [85136328, 85136460]]
Promoter
Chrom Start End Description
chr1 85118103 85118107 CAGE_peak_6_at_SSX2IP_5end
chr1 85155866 85155880 CAGE_peak_8_at_SSX2IP_5end
chr1 85155881 85155892 CAGE_peak_9_at_SSX2IP_5end
chr1 85155895 85155909 CAGE_peak_5_at_SSX2IP_5end
chr1 85155912 85155935 CAGE_peak_3_at_SSX2IP_5end
chr1 85155939 85155984 CAGE_peak_2_at_SSX2IP_5end
chr1 85155993 85156003 CAGE_peak_10_at_SSX2IP_5end
chr1 85156090 85156192 CAGE_peak_1_at_SSX2IP_5end
chr1 85156216 85156238 CAGE_peak_4_at_SSX2IP_5end
chr1 85156417 85156444 CAGE_peak_7_at_SSX2IP_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I084703 84703562 84707737 0.56 [{'connected_gene': 'BCL10', 'score': 11.78}, {'connected_gene': 'LPAR3', 'score': 9.97}, {'connected_gene': 'RPF1', 'score': 9.95}, {'connected_gene': 'SSX2IP', 'score': 7.59}, {'connected_gene': 'LINC01555', 'score': 5.63}, {'connected_gene': 'GC01P084746', 'score': 0.26}]
chr1 GH01I084641 84641335 84644484 0.63 [{'connected_gene': 'RPF1', 'score': 10.36}, {'connected_gene': 'LPAR3', 'score': 10.34}, {'connected_gene': 'DNASE2B', 'score': 9.57}, {'connected_gene': 'UOX', 'score': 9.57}, {'connected_gene': 'SSX2IP', 'score': 6.25}, {'connected_gene': 'ENSG00000232622', 'score': 0.44}]
chr1 GH01I084718 84718615 84723149 1.34 [{'connected_gene': 'RPF1', 'score': 10.05}, {'connected_gene': 'SSX2IP', 'score': 6.84}, {'connected_gene': 'GC01P084746', 'score': 0.31}]
chr1 GH01I084724 84724498 84724647 0.73 [{'connected_gene': 'RPF1', 'score': 10.05}, {'connected_gene': 'GC01P084746', 'score': 0.34}, {'connected_gene': 'SSX2IP', 'score': 0.29}]
chr1 GH01I084379 84378652 84378785 0.22 [{'connected_gene': 'DNASE2B', 'score': 12.51}, {'connected_gene': 'ENSG00000199959', 'score': 9.92}, {'connected_gene': 'RPF1', 'score': 9.8}, {'connected_gene': 'SSX2IP', 'score': 5.67}, {'connected_gene': 'SAMD13', 'score': 2.54}, {'connected_gene': 'GNG5', 'score': 1.52}, {'connected_gene': 'UOX', 'score': 0.37}, {'connected_gene': 'GC01M084160', 'score': 0.31}, {'connected_gene': 'GC01M084333', 'score': 0.22}]
chr1 GH01I084678 84678163 84678297 0.22 [{'connected_gene': 'DNASE2B', 'score': 13.19}, {'connected_gene': 'SSX2IP', 'score': 7.56}, {'connected_gene': 'SAMD13', 'score': 2.84}, {'connected_gene': 'LPAR3', 'score': 1.27}, {'connected_gene': 'ENSG00000232622', 'score': 0.26}]
chr1 GH01I084775 84775531 84775605 0.46 [{'connected_gene': 'LPAR3', 'score': 12.31}, {'connected_gene': 'RPF1', 'score': 9.56}, {'connected_gene': 'DNASE2B', 'score': 4.08}, {'connected_gene': 'SAMD13', 'score': 1.85}, {'connected_gene': 'SSX2IP', 'score': 1.56}, {'connected_gene': 'LOC102724892', 'score': 0.34}, {'connected_gene': 'GC01P084753', 'score': 0.34}]
chr1 GH01I084697 84697077 84700507 1.22 [{'connected_gene': 'LPAR3', 'score': 9.97}, {'connected_gene': 'RPF1', 'score': 9.95}, {'connected_gene': 'SSX2IP', 'score': 6.2}, {'connected_gene': 'LINC01555', 'score': 5.63}, {'connected_gene': 'CTBS', 'score': 4.18}, {'connected_gene': 'GC01P084746', 'score': 0.25}]
chr1 GH01I084758 84758601 84759896 0.69 [{'connected_gene': 'LPAR3', 'score': 12.2}, {'connected_gene': 'DNASE2B', 'score': 7.44}, {'connected_gene': 'SSX2IP', 'score': 5.76}, {'connected_gene': 'SAMD13', 'score': 2.2}, {'connected_gene': 'WDR63', 'score': 1.45}, {'connected_gene': 'GC01P084753', 'score': 0.44}, {'connected_gene': 'LOC102724892', 'score': 0.28}]
chr1 GH01I084711 84711051 84713157 0.69 [{'connected_gene': 'LPAR3', 'score': 9.67}, {'connected_gene': 'LINC01555', 'score': 5.85}, {'connected_gene': 'CTBS', 'score': 4.38}, {'connected_gene': 'SSX2IP', 'score': 0.34}, {'connected_gene': 'GC01P084746', 'score': 0.29}]
chr1 GH01I084708 84708411 84710616 0.43 [{'connected_gene': 'LPAR3', 'score': 9.67}, {'connected_gene': 'SSX2IP', 'score': 7.5}, {'connected_gene': 'LINC01555', 'score': 5.76}, {'connected_gene': 'CTBS', 'score': 4.14}, {'connected_gene': 'GC01P084746', 'score': 0.28}]
chr1 GH01I084686 84686648 84693803 2.47 [{'connected_gene': 'SSX2IP', 'score': 556.54}, {'connected_gene': 'ENSG00000271576', 'score': 10.99}, {'connected_gene': 'LINC01555', 'score': 5.64}, {'connected_gene': 'CTBS', 'score': 4.18}, {'connected_gene': 'ENSG00000232622', 'score': 0.23}]
chr1 GH01I084693 84693918 84693960 0.31 [{'connected_gene': 'SSX2IP', 'score': 0.77}, {'connected_gene': 'GC01P084746', 'score': 0.23}]
chr1 GH01I084382 84382372 84382808 0.64 [{'connected_gene': 'ENSG00000199959', 'score': 9.94}, {'connected_gene': 'RPF1', 'score': 9.11}, {'connected_gene': 'DNASE2B', 'score': 7.53}, {'connected_gene': 'SSX2IP', 'score': 5.32}, {'connected_gene': 'SAMD13', 'score': 1.8}, {'connected_gene': 'PRKACB', 'score': 1.35}, {'connected_gene': 'UOX', 'score': 0.37}, {'connected_gene': 'GC01M084160', 'score': 0.29}, {'connected_gene': 'GC01M084333', 'score': 0.23}]

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