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
ENST00000515137 [[140587086, 140587231], [140616350, 140616421], [140624608, 140624690], [140625169, 140625350], [140661365, 140661899]] None
ENST00000503816 [[140587169, 140587231], [140599696, 140599796], [140616350, 140616421], [140624608, 140624690], [140625169, 140625350], [140626758, 140626881], [140651428, 140652589]] [[140587173, 140587231], [140599696, 140599796], [140616350, 140616421], [140624608, 140624690], [140625169, 140625302]]
ENST00000265498 [[140586921, 140587231], [140599696, 140599796], [140616350, 140616421], [140624608, 140624690], [140625169, 140625407]] [[140587173, 140587231], [140599696, 140599796], [140616350, 140616421], [140624608, 140624690], [140625169, 140625302]]
ENST00000506797 [[140586988, 140587231], [140599696, 140599796], [140624608, 140624690], [140625169, 140625378]] [[140587173, 140587231], [140599696, 140599796], [140624608, 140624684]]
ENST00000502587 [[140587150, 140587231], [140599696, 140600278]] None
ENST00000515067 [[140587181, 140587231], [140599696, 140599796], [140608813, 140608894], [140616350, 140616421], [140624608, 140624690], [140625169, 140625222]] None
NM_001204367 [[140586921, 140587231], [140616350, 140616421], [140624608, 140624690], [140625169, 140625350], [140661365, 140661899]] [[140616396, 140616421], [140624608, 140624690], [140625169, 140625302]]
NM_001204366 [[140586921, 140587231], [140599696, 140599796], [140616350, 140616421], [140624608, 140624690], [140625169, 140625350], [140661365, 140661899]] [[140587173, 140587231], [140599696, 140599796], [140616350, 140616421], [140624608, 140624690], [140625169, 140625302]]
NM_001204368 [[140586921, 140587231], [140599696, 140599796], [140624608, 140624690], [140625169, 140625407]] [[140587173, 140587231], [140599696, 140599796], [140624608, 140624684]]
NM_002413 [[140586921, 140587231], [140599696, 140599796], [140616350, 140616421], [140624608, 140624690], [140625169, 140625407]] [[140587173, 140587231], [140599696, 140599796], [140616350, 140616421], [140624608, 140624690], [140625169, 140625302]]
Promoter
Chrom Start End Description
chr4 140586958 140586988 CAGE_peak_1_at_MGST2_5end
chr4 140586992 140587013 CAGE_peak_2_at_MGST2_5end
chr4 140587022 140587033 CAGE_peak_4_at_MGST2_5end
chr4 140587080 140587083 CAGE_peak_8_at_MGST2_5end
chr4 140587092 140587103 CAGE_peak_7_at_MGST2_5end
chr4 140587108 140587121 CAGE_peak_5_at_MGST2_5end
chr4 140587123 140587175 CAGE_peak_3_at_MGST2_5end
chr4 140587176 140587189 CAGE_peak_9_at_MGST2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I139733 139733045 139737200 1.3 [{'connected_gene': 'SCOC', 'score': 11.28}, {'connected_gene': 'MAML3', 'score': 1.38}, {'connected_gene': 'GC04P139731', 'score': 0.77}, {'connected_gene': 'RN7SKP253', 'score': 0.22}, {'connected_gene': 'MGST2', 'score': 0.2}]
chr4 GH04I139738 139738552 139742085 1.14 [{'connected_gene': 'SCOC', 'score': 11.28}, {'connected_gene': 'GC04P139731', 'score': 0.44}, {'connected_gene': 'RN7SKP253', 'score': 0.23}, {'connected_gene': 'MGST2', 'score': 0.19}, {'connected_gene': 'MAML3', 'score': 0.05}]
chr4 GH04I139690 139690721 139693142 1.1 [{'connected_gene': 'SCOC', 'score': 10.08}, {'connected_gene': 'RN7SKP237', 'score': 0.44}, {'connected_gene': 'GC04M139686', 'score': 0.44}, {'connected_gene': 'H3F3AP6', 'score': 0.44}, {'connected_gene': 'MGST2', 'score': 0.31}]
chr4 GH04I139659 139659974 139661751 1.04 [{'connected_gene': 'MGST2', 'score': 11.54}, {'connected_gene': 'LOC101927490', 'score': 0.39}]
chr4 GH04I139656 139656601 139659563 1.23 [{'connected_gene': 'MGST2', 'score': 12.8}, {'connected_gene': 'LOC101927490', 'score': 0.39}]
chr4 GH04I139674 139674802 139675998 0.8 [{'connected_gene': 'MGST2', 'score': 5.48}, {'connected_gene': 'GC04P139684', 'score': 0.44}]
chr4 GH04I139663 139663419 139670791 2.02 [{'connected_gene': 'MGST2', 'score': 562.31}, {'connected_gene': 'GC04P139684', 'score': 0.37}]
chr4 GH04I139687 139687627 139687776 0.38 [{'connected_gene': 'RN7SKP237', 'score': 0.77}, {'connected_gene': 'GC04P139684', 'score': 0.77}, {'connected_gene': 'GC04M139686', 'score': 0.77}, {'connected_gene': 'H3F3AP6', 'score': 0.39}, {'connected_gene': 'MGST2', 'score': 0.34}]
chr4 GH04I139688 139688594 139690297 1.1 [{'connected_gene': 'RN7SKP237', 'score': 0.77}, {'connected_gene': 'GC04P139684', 'score': 0.77}, {'connected_gene': 'GC04M139686', 'score': 0.77}, {'connected_gene': 'H3F3AP6', 'score': 0.44}, {'connected_gene': 'MGST2', 'score': 0.34}]
chr4 GH04I139651 139651202 139652024 0.98 [{'connected_gene': 'LOC101927490', 'score': 0.77}, {'connected_gene': 'MGST2', 'score': 0.39}]
chr4 GH04I139728 139728488 139729367 0.6 [{'connected_gene': 'GC04P139731', 'score': 0.77}, {'connected_gene': 'GC04P139710', 'score': 0.37}, {'connected_gene': 'MGST2', 'score': 0.21}, {'connected_gene': 'MAML3', 'score': 0.04}]
chr4 GH04I139711 139711392 139712293 0.31 [{'connected_gene': 'GC04P139710', 'score': 550.77}, {'connected_gene': 'GC04P139731', 'score': 0.37}, {'connected_gene': 'MGST2', 'score': 0.25}]
chr4 GH04I139682 139682324 139683744 0.87 [{'connected_gene': 'GC04P139684', 'score': 550.77}, {'connected_gene': 'MGST2', 'score': 0.37}]
chr4 GH04I139677 139676845 139677558 0.54 [{'connected_gene': 'GC04P139684', 'score': 0.44}, {'connected_gene': 'MGST2', 'score': 0.39}]
chr4 GH04I139676 139676340 139676676 0.51 [{'connected_gene': 'GC04P139684', 'score': 0.44}, {'connected_gene': 'MGST2', 'score': 0.39}]