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
ENST00000293405 [[50655804, 50655908], [50657856, 50657983], [50661524, 50661605], [50662486, 50662507], [50662750, 50662837], [50665995, 50666070], [50666219, 50666452]] [[50655865, 50655908], [50657856, 50657983], [50661524, 50661605], [50662486, 50662507], [50662750, 50662837], [50665995, 50666070]]
ENST00000600293 [[50655805, 50655908], [50656933, 50657063], [50657856, 50657983], [50661524, 50661605], [50662486, 50662507], [50662750, 50662837], [50665995, 50666070], [50666219, 50666413]] [[50656945, 50657063], [50657856, 50657983], [50661524, 50661605], [50662486, 50662507], [50662750, 50662837], [50665995, 50666070], [50666219, 50666413]]
ENST00000486050 [[50655847, 50655908], [50657856, 50657983], [50661524, 50661605], [50662486, 50662507], [50662750, 50662837], [50665995, 50666068], [50666219, 50666437]] [[50666006, 50666068], [50666219, 50666437]]
ENST00000594854 [[50663222, 50663553], [50663715, 50664037], [50665995, 50666070], [50666219, 50666384]] [[50664008, 50664037], [50665995, 50666070], [50666219, 50666384]]
NM_001321449 [[50655804, 50655908], [50656933, 50657063], [50657856, 50657983], [50661524, 50661605], [50662486, 50662507], [50662750, 50662837], [50665995, 50666070], [50666219, 50666538]] [[50656945, 50657063], [50657856, 50657983], [50661524, 50661605], [50662486, 50662507], [50662750, 50662837], [50665995, 50666070], [50666219, 50666451]]
NM_152358 [[50655804, 50655908], [50657856, 50657983], [50661524, 50661605], [50662486, 50662507], [50662750, 50662837], [50665995, 50666070], [50666219, 50666538]] [[50655865, 50655908], [50657856, 50657983], [50661524, 50661605], [50662486, 50662507], [50662750, 50662837], [50665995, 50666070], [50666219, 50666451]]
Promoter
Chrom Start End Description
chr19 50666404 50666424 CAGE_peak_2_at_IZUMO2_5end
chr19 50666431 50666455 CAGE_peak_1_at_IZUMO2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I050180 50180786 50181727 0.69 [{'connected_gene': 'MYH14', 'score': 0.44}, {'connected_gene': 'IZUMO2', 'score': 0.37}]
chr19 GH19I050178 50178126 50180004 1 [{'connected_gene': 'MYH14', 'score': 0.44}, {'connected_gene': 'IZUMO2', 'score': 0.37}]
chr19 GH19I050264 50264532 50264653 0.78 [{'connected_gene': 'KLK12', 'score': 5.19}, {'connected_gene': 'IZUMO2', 'score': 1.79}, {'connected_gene': 'PIR48748', 'score': 0.77}, {'connected_gene': 'GC19P050308', 'score': 0.26}, {'connected_gene': 'MYH14', 'score': 0.18}]
chr19 GH19I050169 50168645 50169578 0.77 [{'connected_gene': 'CPT1C', 'score': 17.52}, {'connected_gene': 'LRRC4B', 'score': 15.86}, {'connected_gene': 'SHANK1', 'score': 10.66}, {'connected_gene': 'ENSG00000268231', 'score': 10.27}, {'connected_gene': 'IZUMO2', 'score': 0.44}, {'connected_gene': 'MYH14', 'score': 0.37}]
chr19 GH19I050168 50168350 50168633 0.31 [{'connected_gene': 'IZUMO2', 'score': 0.44}, {'connected_gene': 'MYH14', 'score': 0.37}]
chr19 GH19I050172 50172253 50174194 1.03 [{'connected_gene': 'IZUMO2', 'score': 0.44}, {'connected_gene': 'MYH14', 'score': 0.39}]
chr19 GH19I050170 50170083 50170492 0.2 [{'connected_gene': 'IZUMO2', 'score': 0.44}, {'connected_gene': 'MYH14', 'score': 0.37}]
chr19 GH19I050175 50175962 50177310 0.8 [{'connected_gene': 'IZUMO2', 'score': 0.39}, {'connected_gene': 'MYH14', 'score': 0.39}]
chr19 GH19I050167 50167444 50167653 0.92 [{'connected_gene': 'IZUMO2', 'score': 0.77}, {'connected_gene': 'MYH14', 'score': 0.34}]
chr19 GH19I050165 50165544 50165653 0.6 [{'connected_gene': 'IZUMO2', 'score': 0.77}, {'connected_gene': 'MYH14', 'score': 0.34}]
chr19 GH19I050163 50163184 50163243 0.89 [{'connected_gene': 'IZUMO2', 'score': 550.77}, {'connected_gene': 'LOC105372436', 'score': 0.39}]

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