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
ENST00000382298 [[23902964, 23915829], [23927923, 23928015], [23928657, 23930146], [23932473, 23932620], [23939304, 23939416], [23942540, 23942626], [23945216, 23945304], [23949257, 23949408], [23985358, 23985879], [24007753, 24007841]] [[23904274, 23915829], [23927923, 23928015], [23928657, 23930146], [23932473, 23932620], [23939304, 23939416], [23942540, 23942626], [23945216, 23945304], [23949257, 23949408], [23985358, 23985378]]
ENST00000402364 [[23902964, 23915829], [23927923, 23928015], [23928657, 23930146], [23932473, 23932620], [23939304, 23939416], [23942540, 23942626], [23949257, 23949408], [23949490, 23949682]] [[23904274, 23915764]]
ENST00000382292 [[23902964, 23915829], [23927923, 23928015], [23928657, 23930146], [23932473, 23932620], [23939304, 23939416], [23942540, 23942626], [23945216, 23945304], [23949257, 23949408], [23985358, 23985652]] [[23904274, 23915829], [23927923, 23928015], [23928657, 23930146], [23932473, 23932620], [23939304, 23939416], [23942540, 23942626], [23945216, 23945304], [23949257, 23949408], [23985358, 23985378]]
ENST00000455470 [[23902968, 23903623], [23915583, 23915829], [23927923, 23928015], [23928657, 23930146], [23932473, 23932620], [23939304, 23939416], [23942540, 23942583]] [[23903555, 23903623], [23915583, 23915829], [23927923, 23928015], [23928657, 23930146], [23932473, 23932620], [23939304, 23939416], [23942540, 23942583]]
ENST00000423156 [[23902971, 23903623], [23927923, 23928015], [23928657, 23929622]] [[23903555, 23903623], [23927923, 23928015], [23928657, 23929622]]
ENST00000476776 [[23927874, 23928015], [23928657, 23929029]] None
NM_014363 [[23902961, 23915829], [23927923, 23928015], [23928657, 23930146], [23932473, 23932620], [23939304, 23939416], [23942540, 23942626], [23945216, 23945304], [23949257, 23949408], [23985358, 23985879], [24007753, 24007867]] [[23904274, 23915829], [23927923, 23928015], [23928657, 23930146], [23932473, 23932620], [23939304, 23939416], [23942540, 23942626], [23945216, 23945304], [23949257, 23949408], [23985358, 23985378]]
NM_001278055 [[23902961, 23915829], [23927923, 23928015], [23928657, 23930146], [23932473, 23932620], [23939304, 23939416], [23942540, 23942626], [23949257, 23949408], [23949490, 23949682]] [[23904274, 23915829], [23927923, 23928015], [23928657, 23930146], [23932473, 23932620], [23939304, 23939320]]
Promoter
Chrom Start End Description
chr13 23906929 23906932 CAGE_peak_9_at_SACS_5end
chr13 23949614 23949621 CAGE_peak_4_at_SACS_5end
chr13 23949624 23949669 CAGE_peak_1_at_SACS_5end
chr13 23949671 23949702 CAGE_peak_3_at_SACS_5end
chr13 24007815 24007872 CAGE_peak_2_at_SACS_5end
chr13 24007877 24007882 CAGE_peak_5_at_SACS_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I023468 23468864 23471435 0.59 [{'connected_gene': 'C1QTNF9B', 'score': 11.97}, {'connected_gene': 'MIPEP', 'score': 11.72}, {'connected_gene': 'PCOTH', 'score': 11.72}, {'connected_gene': 'SACS', 'score': 11.27}, {'connected_gene': 'TNFRSF19', 'score': 10.4}, {'connected_gene': 'LINC00327', 'score': 0.77}, {'connected_gene': 'LINC00352', 'score': 0.31}]
chr13 GH13I023447 23447587 23451347 0.77 [{'connected_gene': 'C1QTNF9', 'score': 4.83}, {'connected_gene': 'LINC00327', 'score': 0.37}, {'connected_gene': 'SACS', 'score': 0.37}]
chr13 GH13I023558 23557383 23557684 0.73 [{'connected_gene': 'SACS', 'score': 1.24}, {'connected_gene': 'TNFRSF19', 'score': 0.39}, {'connected_gene': 'PIR60894', 'score': 0.31}]
chr13 GH13I023460 23460601 23461000 0.54 [{'connected_gene': 'SACS', 'score': 11.96}, {'connected_gene': 'MIPEP', 'score': 11.35}, {'connected_gene': 'PCOTH', 'score': 11.35}, {'connected_gene': 'C1QTNF9B', 'score': 11.35}, {'connected_gene': 'TNFRSF19', 'score': 9.96}, {'connected_gene': 'LINC00327', 'score': 0.44}]
chr13 GH13I023372 23372012 23380327 2.14 [{'connected_gene': 'SACS', 'score': 558.64}, {'connected_gene': 'MIPEP', 'score': 11.07}, {'connected_gene': 'PCOTH', 'score': 11.07}, {'connected_gene': 'C1QTNF9B', 'score': 11.07}, {'connected_gene': 'RPLP1P13', 'score': 0.77}, {'connected_gene': 'SACS-AS1', 'score': 0.26}]
chr13 GH13I023432 23432363 23434251 1.42 [{'connected_gene': 'SACS', 'score': 550.77}, {'connected_gene': 'SACS-AS1', 'score': 0.39}]
chr13 GH13I023433 23432001 23432200 0.2 [{'connected_gene': 'SACS', 'score': 550.77}, {'connected_gene': 'SACS-AS1', 'score': 0.39}]
chr13 GH13I023319 23319003 23325016 1.12 [{'connected_gene': 'SACS', 'score': 17.81}, {'connected_gene': 'SDAD1P4', 'score': 0.23}, {'connected_gene': 'RPLP1P13', 'score': 0.23}, {'connected_gene': 'SGCG', 'score': 0.1}]
chr13 GH13I023391 23391333 23393627 0.31 [{'connected_gene': 'RPLP1P13', 'score': 0.37}, {'connected_gene': 'SACS-AS1', 'score': 0.31}, {'connected_gene': 'SACS', 'score': 0.26}]
chr13 GH13I023383 23383722 23384870 0.8 [{'connected_gene': 'RPLP1P13', 'score': 0.39}, {'connected_gene': 'SACS-AS1', 'score': 0.29}, {'connected_gene': 'SACS', 'score': 0.25}]
chr13 GH13I023348 23348121 23349458 0.31 [{'connected_gene': 'RPLP1P13', 'score': 0.34}, {'connected_gene': 'SDAD1P4', 'score': 0.18}, {'connected_gene': 'SACS', 'score': 0.18}]
chr13 GH13I023330 23330002 23331389 0.2 [{'connected_gene': 'RPLP1P13', 'score': 0.26}, {'connected_gene': 'SDAD1P4', 'score': 0.21}, {'connected_gene': 'SACS', 'score': 0.15}]
chr13 GH13I023426 23426436 23429091 0.91 [{'connected_gene': 'SACS-AS1', 'score': 7.27}, {'connected_gene': 'SACS', 'score': 0.44}]

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