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
ENST00000350148 [[37418967, 37422956], [37427555, 37427812], [37439673, 37439895], [37446794, 37447052], [37453414, 37454012], [37494252, 37494375]] [[37422812, 37422956], [37427555, 37427812], [37439673, 37439895], [37446794, 37447052], [37453414, 37453826]]
ENST00000379826 [[37418967, 37422956], [37427555, 37427812], [37439673, 37439895], [37441409, 37441520], [37446794, 37447052], [37453414, 37454012], [37494252, 37494409]] [[37422812, 37422956], [37427555, 37427812], [37439673, 37439895], [37441409, 37441520], [37446794, 37447052], [37453414, 37453826]]
ENST00000483941 [[37453598, 37454012], [37494771, 37494902]] None
ENST00000399275 [[37418967, 37422956], [37427555, 37427812], [37439673, 37439895], [37441409, 37441520], [37446794, 37447052], [37453414, 37453966]] [[37422812, 37422956], [37427555, 37427812], [37439673, 37439895], [37441409, 37441520], [37446794, 37447052], [37453414, 37453826]]
NM_001127217 [[37418967, 37422956], [37427555, 37427812], [37439673, 37439895], [37441409, 37441520], [37446794, 37447052], [37453414, 37454012], [37494252, 37494409]] [[37422812, 37422956], [37427555, 37427812], [37439673, 37439895], [37441409, 37441520], [37446794, 37447052], [37453414, 37453826]]
NM_005905 [[37418967, 37422956], [37427555, 37427812], [37439673, 37439895], [37446794, 37447052], [37453414, 37454012], [37494252, 37494409]] [[37422812, 37422956], [37427555, 37427812], [37439673, 37439895], [37446794, 37447052], [37453414, 37453826]]
Promoter
Chrom Start End Description
chr13 37446840 37446847 CAGE_peak_15_at_SMAD9_5end
chr13 37446984 37446995 CAGE_peak_13_at_SMAD9_5end
chr13 37494248 37494260 CAGE_peak_3_at_SMAD9_5end
chr13 37494275 37494304 CAGE_peak_2_at_SMAD9_5end
chr13 37494306 37494324 CAGE_peak_4_at_SMAD9_5end
chr13 37494342 37494348 CAGE_peak_7_at_SMAD9_5end
chr13 37494365 37494381 CAGE_peak_1_at_SMAD9_5end
chr13 37494391 37494406 CAGE_peak_5_at_SMAD9_5end
chr13 37494498 37494511 CAGE_peak_6_at_SMAD9_5end
chr13 37494904 37494911 CAGE_peak_24_at_SMAD9_5end
chr13 37494987 37494992 CAGE_peak_23_at_SMAD9_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I036818 36818384 36821172 1.93 [{'connected_gene': 'RFXAP', 'score': 550.77}, {'connected_gene': 'EXOSC8', 'score': 19.3}, {'connected_gene': 'SUPT20H', 'score': 12.78}, {'connected_gene': 'GC13P036843', 'score': 0.34}, {'connected_gene': 'SMAD9', 'score': 0.15}]
chr13 GH13I036918 36918284 36921496 2.11 [{'connected_gene': 'SMAD9', 'score': 578.25}, {'connected_gene': 'SERTM1', 'score': 2.58}, {'connected_gene': 'RFXAP', 'score': 1.36}, {'connected_gene': 'SMAD9-IT1', 'score': 0.2}]
chr13 GH13I036899 36899802 36899996 0.22 [{'connected_gene': 'SMAD9', 'score': 1.67}, {'connected_gene': 'SERTM1', 'score': 1.49}, {'connected_gene': 'SMAD9-IT1', 'score': 0.25}]
chr13 GH13I036905 36905779 36905838 0.5 [{'connected_gene': 'SMAD9', 'score': 550.39}, {'connected_gene': 'SMAD9-IT1', 'score': 0.22}]
chr13 GH13I036887 36887904 36888093 0.43 [{'connected_gene': 'SMAD9', 'score': 0.29}, {'connected_gene': 'SMAD9-IT1', 'score': 0.28}]
chr13 GH13I036997 36997774 37002390 2.31 [{'connected_gene': 'EXOSC8', 'score': 572.94}, {'connected_gene': 'ALG5', 'score': 560.7}, {'connected_gene': 'SUPT20H', 'score': 40.33}, {'connected_gene': 'RFXAP', 'score': 27.66}, {'connected_gene': 'SPART-AS1', 'score': 12.17}, {'connected_gene': 'SMAD9', 'score': 9.94}, {'connected_gene': 'CSNK1A1L', 'score': 7.02}]
chr13 GH13I036858 36858404 36858473 0.57 [{'connected_gene': 'SMAD9-IT1', 'score': 0.44}, {'connected_gene': 'SMAD9', 'score': 0.21}]

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