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
ENST00000372969 [[39491989, 39492074], [39494394, 39494612], [39500063, 39500308]] [[39494396, 39494612], [39500063, 39500168]]
ENST00000372967 [[39491989, 39492070], [39494394, 39494612], [39500063, 39500308]] [[39494396, 39494612], [39500063, 39500168]]
NM_001184979 [[39491966, 39492070], [39494394, 39494612], [39500063, 39500308]] [[39494396, 39494612], [39500063, 39500168]]
NM_004552 [[39491966, 39492074], [39494394, 39494612], [39500063, 39500308]] [[39494396, 39494612], [39500063, 39500168]]
Promoter
Chrom Start End Description
chr1 39491984 39492031 CAGE_peak_1_at_NDUFS5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I038953 38953005 38954028 0.74 [{'connected_gene': 'AKIRIN1', 'score': 11.27}, {'connected_gene': 'GJA9', 'score': 10.84}, {'connected_gene': 'MYCBP', 'score': 10.83}, {'connected_gene': 'NDUFS5', 'score': 5.54}, {'connected_gene': 'GC01M038951', 'score': 0.77}, {'connected_gene': 'ENSG00000207466', 'score': 0.77}, {'connected_gene': 'EIF1P2', 'score': 0.44}, {'connected_gene': 'GC01M038902', 'score': 0.18}]
chr1 GH01I038989 38989281 38993261 2.25 [{'connected_gene': 'AKIRIN1', 'score': 559.65}, {'connected_gene': 'NDUFS5', 'score': 32.52}, {'connected_gene': 'RHBDL2', 'score': 11.05}, {'connected_gene': 'GJA9', 'score': 10.42}, {'connected_gene': 'MYCBP', 'score': 10.4}, {'connected_gene': 'UTP11', 'score': 10.38}, {'connected_gene': 'PIR42637', 'score': 0.39}, {'connected_gene': 'GC01M038902', 'score': 0.28}]
chr1 GH01I038961 38961069 38962929 0.95 [{'connected_gene': 'RHBDL2', 'score': 16.94}, {'connected_gene': 'AKIRIN1', 'score': 12.22}, {'connected_gene': 'GJA9', 'score': 10.77}, {'connected_gene': 'MYCBP', 'score': 10.77}, {'connected_gene': 'NDUFS5', 'score': 5.11}, {'connected_gene': 'EIF1P2', 'score': 0.77}, {'connected_gene': 'GC01M038902', 'score': 0.2}]
chr1 GH01I038940 38940491 38942446 1.57 [{'connected_gene': 'RHBDL2', 'score': 550.77}, {'connected_gene': 'NDUFS5', 'score': 8.18}, {'connected_gene': 'RNU6-605P', 'score': 0.39}, {'connected_gene': 'GC01M038902', 'score': 0.17}]
chr1 GH01I039016 39016199 39017656 0.77 [{'connected_gene': 'NDUFS5', 'score': 65.38}, {'connected_gene': 'AKIRIN1', 'score': 19.23}, {'connected_gene': 'MACF1', 'score': 11.14}, {'connected_gene': 'KIAA0754', 'score': 11.14}, {'connected_gene': 'GJA9', 'score': 10.6}, {'connected_gene': 'MYCBP', 'score': 10.59}, {'connected_gene': 'PIR42637', 'score': 0.39}, {'connected_gene': 'GC01M038902', 'score': 0.39}]
chr1 GH01I038999 38999908 39002347 0.58 [{'connected_gene': 'NDUFS5', 'score': 26.15}, {'connected_gene': 'MYCBP', 'score': 10.62}, {'connected_gene': 'GJA9', 'score': 10.62}, {'connected_gene': 'POU3F1', 'score': 4.31}, {'connected_gene': 'PIR42637', 'score': 0.77}, {'connected_gene': 'AKIRIN1', 'score': 0.44}, {'connected_gene': 'GC01M038902', 'score': 0.31}]
chr1 GH01I039076 39076033 39077096 1.09 [{'connected_gene': 'NDUFS5', 'score': 13.71}, {'connected_gene': 'MACF1', 'score': 0.77}, {'connected_gene': 'KIAA0754', 'score': 0.77}, {'connected_gene': 'GC01P039070', 'score': 0.44}]
chr1 GH01I039025 39025372 39027759 2.06 [{'connected_gene': 'NDUFS5', 'score': 620.04}, {'connected_gene': 'PPIE', 'score': 46.63}, {'connected_gene': 'MYCBP', 'score': 24.13}, {'connected_gene': 'AKIRIN1', 'score': 11.5}, {'connected_gene': 'PPIEL', 'score': 10.17}, {'connected_gene': 'GJA9', 'score': 10.09}, {'connected_gene': 'RRAGC', 'score': 10.03}, {'connected_gene': 'TRIT1', 'score': 9.72}, {'connected_gene': 'LOC105378663', 'score': 4.55}, {'connected_gene': 'GC01M038902', 'score': 0.77}]
chr1 GH01I039046 39046581 39048952 1 [{'connected_gene': 'PPIE', 'score': 12.53}, {'connected_gene': 'PPIEL', 'score': 10.17}, {'connected_gene': 'TRIT1', 'score': 9.72}, {'connected_gene': 'AKIRIN1', 'score': 8.79}, {'connected_gene': 'NDUFS5', 'score': 7.68}, {'connected_gene': 'LOC105378663', 'score': 5.04}, {'connected_gene': 'GC01M038902', 'score': 0.37}, {'connected_gene': 'GC01P039068', 'score': 0.34}]
chr1 GH01I038984 38984989 38987447 1.37 [{'connected_gene': 'PPIE', 'score': 65.57}, {'connected_gene': 'PPIEL', 'score': 62.21}, {'connected_gene': 'TRIT1', 'score': 58.97}, {'connected_gene': 'SF3A3', 'score': 48.03}, {'connected_gene': 'NDUFS5', 'score': 22.62}, {'connected_gene': 'MYCBP', 'score': 12.62}, {'connected_gene': 'RRAGC', 'score': 11.92}, {'connected_gene': 'ENSG00000182109', 'score': 11.24}, {'connected_gene': 'LOC101929516', 'score': 10.65}, {'connected_gene': 'AKIRIN1', 'score': 0.44}, {'connected_gene': 'EIF1P2', 'score': 0.31}, {'connected_gene': 'GC01M038902', 'score': 0.26}]
chr1 GH01I038958 38958160 38960854 0.72 [{'connected_gene': 'EIF1P2', 'score': 550.77}, {'connected_gene': 'AKIRIN1', 'score': 11.75}, {'connected_gene': 'GJA9', 'score': 10.68}, {'connected_gene': 'MYCBP', 'score': 10.66}, {'connected_gene': 'RHBDL2', 'score': 5.77}, {'connected_gene': 'NDUFS5', 'score': 4.62}, {'connected_gene': 'GC01M038902', 'score': 0.19}]