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
ENST00000347708 [[145192671, 145193331], [145193409, 145193510], [145193617, 145193716], [145193911, 145194003], [145194091, 145194214], [145194290, 145195746]] [[145192738, 145193331], [145193409, 145193510], [145193617, 145193716], [145193911, 145194003], [145194091, 145194214], [145194290, 145194455]]
ENST00000533266 [[145192706, 145192921], [145193192, 145193331], [145193409, 145193510], [145193617, 145193716], [145193911, 145194003], [145194091, 145194214], [145194290, 145195627]] [[145192738, 145192921], [145193192, 145193267]]
ENST00000530074 [[145192712, 145193331], [145193617, 145193700]] None
ENST00000530409 [[145193368, 145193517], [145193617, 145194011]] None
ENST00000525101 [[145193585, 145194003], [145194091, 145194214], [145194290, 145194323]] None
ENST00000534255 [[145193661, 145194003], [145194091, 145194214], [145194290, 145195616]] None
NM_016458 [[145192671, 145193331], [145193409, 145193510], [145193617, 145193716], [145193911, 145194003], [145194091, 145194214], [145194290, 145195746]] [[145192738, 145193331], [145193409, 145193510], [145193617, 145193716], [145193911, 145194003], [145194091, 145194214], [145194290, 145194455]]
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I144101 144101933 144105889 2.12 [{'connected_gene': 'SHARPIN', 'score': 567.99}, {'connected_gene': 'MAF1', 'score': 561.09}, {'connected_gene': 'ZNF623', 'score': 82.6}, {'connected_gene': 'ZNF7', 'score': 79.28}, {'connected_gene': 'ZNF16', 'score': 68.98}, {'connected_gene': 'ZNF696', 'score': 35.28}, {'connected_gene': 'ZNF517', 'score': 34.67}, {'connected_gene': 'ZNF251', 'score': 34.28}, {'connected_gene': 'ZNF250', 'score': 32.43}, {'connected_gene': 'CPSF1', 'score': 32.25}, {'connected_gene': 'WDR97', 'score': 23.37}, {'connected_gene': 'RPL8', 'score': 22.83}, {'connected_gene': 'EEF1D', 'score': 22.44}, {'connected_gene': 'HSF1', 'score': 21.7}, {'connected_gene': 'LRRC14', 'score': 20.99}, {'connected_gene': 'GPAA1', 'score': 20.92}, {'connected_gene': 'VPS28', 'score': 20.68}, {'connected_gene': 'ENSG00000255224', 'score': 18.7}, {'connected_gene': 'ARHGAP39', 'score': 12.59}, {'connected_gene': 'LOC105375803', 'score': 12.49}, {'connected_gene': 'GLI4', 'score': 11.78}, {'connected_gene': 'ZNF707', 'score': 10.9}, {'connected_gene': 'ENSG00000255050', 'score': 10.61}, {'connected_gene': 'SLC52A2', 'score': 10.58}, {'connected_gene': 'HGH1', 'score': 10.19}, {'connected_gene': 'ENSG00000272172', 'score': 10.13}, {'connected_gene': 'TOP1MT', 'score': 10.06}, {'connected_gene': 'TIGD5', 'score': 9.8}, {'connected_gene': 'MINCR', 'score': 9.72}, {'connected_gene': 'CYC1', 'score': 0.44}]
chr8 GH08I144412 144412597 144419866 2.2 [{'connected_gene': 'SLC39A4', 'score': 567.15}, {'connected_gene': 'VPS28', 'score': 29.95}, {'connected_gene': 'CPSF1', 'score': 16.78}, {'connected_gene': 'TONSL', 'score': 16.24}, {'connected_gene': 'C8orf82', 'score': 7.35}, {'connected_gene': 'LOC105375803', 'score': 6.06}, {'connected_gene': 'HGH1', 'score': 5.45}, {'connected_gene': 'ZNF252P', 'score': 4.51}, {'connected_gene': 'ENSG00000272115', 'score': 0.44}, {'connected_gene': 'GC08P144288', 'score': 0.13}]
chr8 GH08I144137 144137200 144138601 1 [{'connected_gene': 'HGH1', 'score': 550.77}, {'connected_gene': 'PIR34562', 'score': 0.77}, {'connected_gene': 'GC08P144119', 'score': 0.37}]
chr8 GH08I143980 143980890 143981538 0.8 [{'connected_gene': 'ENSG00000254533', 'score': 19.58}, {'connected_gene': 'ENSG00000255085', 'score': 14.85}, {'connected_gene': 'TSSK5P', 'score': 13.01}, {'connected_gene': 'ZNF696', 'score': 11.08}, {'connected_gene': 'ZNF251', 'score': 9.93}, {'connected_gene': 'HGH1', 'score': 8.46}, {'connected_gene': 'PIR31620', 'score': 0.77}, {'connected_gene': 'PLEC', 'score': 0.77}, {'connected_gene': 'PARP10', 'score': 0.29}]
chr8 GH08I144126 144126518 144126707 0.72 [{'connected_gene': 'GC08P144119', 'score': 0.44}, {'connected_gene': 'HGH1', 'score': 0.39}]

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