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
ENST00000380152 [[32889610, 32889804], [32890558, 32890664], [32893213, 32893462], [32899212, 32899321], [32900237, 32900287], [32900378, 32900419], [32900635, 32900750], [32903579, 32903629], [32905055, 32905167], [32906408, 32907524], [32910401, 32915333], [32918694, 32918790], [32920963, 32921033], [32928997, 32929425], [32930564, 32930746], [32931878, 32932066], [32936659, 32936830], [32937315, 32937670], [32944538, 32944694], [32945092, 32945237], [32950806, 32950928], [32953453, 32953652], [32953886, 32954050], [32954143, 32954282], [32968825, 32969070], [32971034, 32971181], [32972298, 32973347]] [[32890597, 32890664], [32893213, 32893462], [32899212, 32899321], [32900237, 32900287], [32900378, 32900419], [32900635, 32900750], [32903579, 32903629], [32905055, 32905167], [32906408, 32907524], [32910401, 32915333], [32918694, 32918790], [32920963, 32921033], [32928997, 32929425], [32930564, 32930746], [32931878, 32932066], [32936659, 32936830], [32937315, 32937670], [32944538, 32944694], [32945092, 32945237], [32950806, 32950928], [32953453, 32953652], [32953886, 32954050], [32954143, 32954282], [32968825, 32969070], [32971034, 32971181], [32972298, 32972907]]
ENST00000544455 [[32889616, 32889804], [32890558, 32890664], [32893213, 32893462], [32899212, 32899321], [32900237, 32900287], [32900378, 32900419], [32900635, 32900750], [32903579, 32903629], [32905055, 32905167], [32906408, 32907524], [32910401, 32915333], [32918694, 32918790], [32920963, 32921033], [32928997, 32929425], [32930564, 32930746], [32931878, 32932066], [32936659, 32936830], [32937315, 32937670], [32944538, 32944694], [32945092, 32945237], [32950806, 32950928], [32953453, 32953652], [32953886, 32954050], [32954143, 32954282], [32968825, 32969070], [32971034, 32971181], [32972298, 32973347], [32973745, 32973805]] [[32890597, 32890664], [32893213, 32893462], [32899212, 32899321], [32900237, 32900287], [32900378, 32900419], [32900635, 32900750], [32903579, 32903629], [32905055, 32905167], [32906408, 32907524], [32910401, 32915333], [32918694, 32918790], [32920963, 32921033], [32928997, 32929425], [32930564, 32930746], [32931878, 32932066], [32936659, 32936830], [32937315, 32937670], [32944538, 32944694], [32945092, 32945237], [32950806, 32950928], [32953453, 32953652], [32953886, 32954050], [32954143, 32954282], [32968825, 32969070], [32971034, 32971181], [32972298, 32972907]]
ENST00000530893 [[32889641, 32889804], [32890558, 32890660], [32893213, 32893462], [32899212, 32899321], [32900237, 32900287], [32900378, 32900419], [32900635, 32900750], [32903579, 32903629], [32905055, 32905167], [32906408, 32907428]] [[32899265, 32899321], [32900237, 32900287], [32900378, 32900419], [32900635, 32900750], [32903579, 32903629], [32905055, 32905167], [32906408, 32907428]]
ENST00000528762 [[32945107, 32945237], [32949479, 32949543], [32950806, 32950928], [32953453, 32953632]] [[32945107, 32945237], [32949479, 32949543], [32950806, 32950807]]
ENST00000470094 [[32953976, 32954050], [32954143, 32954282], [32968825, 32969070], [32970127, 32970253], [32971034, 32971181], [32972298, 32972409]] [[32953976, 32954050], [32954143, 32954282], [32968825, 32969070], [32970127, 32970229]]
ENST00000533776 [[32970945, 32971181], [32972298, 32972585]] None
NM_000059 [[32889616, 32889804], [32890558, 32890664], [32893213, 32893462], [32899212, 32899321], [32900237, 32900287], [32900378, 32900419], [32900635, 32900750], [32903579, 32903629], [32905055, 32905167], [32906408, 32907524], [32910401, 32915333], [32918694, 32918790], [32920963, 32921033], [32928997, 32929425], [32930564, 32930746], [32931878, 32932066], [32936659, 32936830], [32937315, 32937670], [32944538, 32944694], [32945092, 32945237], [32950806, 32950928], [32953453, 32953652], [32953886, 32954050], [32954143, 32954282], [32968825, 32969070], [32971034, 32971181], [32972298, 32973809]] [[32890597, 32890664], [32893213, 32893462], [32899212, 32899321], [32900237, 32900287], [32900378, 32900419], [32900635, 32900750], [32903579, 32903629], [32905055, 32905167], [32906408, 32907524], [32910401, 32915333], [32918694, 32918790], [32920963, 32921033], [32928997, 32929425], [32930564, 32930746], [32931878, 32932066], [32936659, 32936830], [32937315, 32937670], [32944538, 32944694], [32945092, 32945237], [32950806, 32950928], [32953453, 32953652], [32953886, 32954050], [32954143, 32954282], [32968825, 32969070], [32971034, 32971181], [32972298, 32972907]]
Promoter
Chrom Start End Description
chr13 32889208 32889236 CAGE_peak_3_at_BRCA2_5end
chr13 32889605 32889653 CAGE_peak_1_at_BRCA2_5end
chr13 32889654 32889678 CAGE_peak_2_at_BRCA2_5end
chr13 32889688 32889697 CAGE_peak_4_at_BRCA2_5end
chr13 32890201 32890222 CAGE_peak_5_at_BRCA2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I032391 32391364 32391433 0.31 [{'connected_gene': 'N4BP2L1', 'score': 11.52}, {'connected_gene': 'PDS5B', 'score': 10.6}, {'connected_gene': 'IFIT1P1', 'score': 0.44}, {'connected_gene': 'ENSG00000212293', 'score': 0.31}, {'connected_gene': 'BRCA2', 'score': 0.18}]
chr13 GH13I032323 32323377 32325040 0.49 [{'connected_gene': 'N4BP2L1', 'score': 9.8}, {'connected_gene': 'FRY', 'score': 9.49}, {'connected_gene': 'FRY-AS1', 'score': 9.49}, {'connected_gene': 'ZAR1L', 'score': 0.44}, {'connected_gene': 'BRCA2', 'score': 0.44}, {'connected_gene': 'IFIT1P1', 'score': 0.21}]
chr13 GH13I032314 32314292 32317235 2.05 [{'connected_gene': 'BRCA2', 'score': 562.87}, {'connected_gene': 'ZAR1L', 'score': 550.77}, {'connected_gene': 'N4BP2L2', 'score': 11.95}, {'connected_gene': 'IFIT1P1', 'score': 0.2}]
chr13 GH13I032330 32330544 32330733 0.31 [{'connected_gene': 'ZAR1L', 'score': 0.37}, {'connected_gene': 'BRCA2', 'score': 0.37}, {'connected_gene': 'IFIT1P1', 'score': 0.23}]
chr13 GH13I032340 32340801 32341000 0.46 [{'connected_gene': 'ZAR1L', 'score': 12.91}, {'connected_gene': 'BRCA2', 'score': 12.91}, {'connected_gene': 'IFIT1P1', 'score': 0.26}]
chr13 GH13I032115 32114469 32116881 1.03 [{'connected_gene': 'N4BP2L2', 'score': 4.47}, {'connected_gene': 'BRCA2', 'score': 1.58}, {'connected_gene': 'N4BP2L1', 'score': 1.21}, {'connected_gene': 'GC13P032060', 'score': 0.22}, {'connected_gene': 'FRY', 'score': 0.18}, {'connected_gene': 'GC13P032297', 'score': 0.09}]
chr13 GH13I032117 32117201 32118079 0.93 [{'connected_gene': 'N4BP2L2', 'score': 3.88}, {'connected_gene': 'BRCA2', 'score': 1.59}, {'connected_gene': 'N4BP2L1', 'score': 1.37}, {'connected_gene': 'GC13P032060', 'score': 0.22}, {'connected_gene': 'FRY', 'score': 0.17}, {'connected_gene': 'GC13P032297', 'score': 0.1}]
chr13 GH13I032309 32309601 32310599 0.89 [{'connected_gene': 'FRY', 'score': 10.04}, {'connected_gene': 'FRY-AS1', 'score': 10.04}, {'connected_gene': 'BRCA2', 'score': 0.77}, {'connected_gene': 'ZAR1L', 'score': 0.44}, {'connected_gene': 'GC13P032297', 'score': 0.39}]
chr13 GH13I032045 32045802 32048399 1.5 [{'connected_gene': 'FRY', 'score': 5.52}, {'connected_gene': 'FRY-AS1', 'score': 5.4}, {'connected_gene': 'N4BP2L2', 'score': 5.32}, {'connected_gene': 'N4BP2L1', 'score': 1.5}, {'connected_gene': 'BRCA2', 'score': 1.17}, {'connected_gene': 'GC13P032060', 'score': 0.39}]
chr13 GH13I032124 32124709 32126799 1.02 [{'connected_gene': 'FRY', 'score': 11.23}, {'connected_gene': 'FRY-AS1', 'score': 11.23}, {'connected_gene': 'N4BP2L2', 'score': 3.0}, {'connected_gene': 'BRCA2', 'score': 1.25}, {'connected_gene': 'N4BP2L1', 'score': 1.23}, {'connected_gene': 'GC13P032060', 'score': 0.2}, {'connected_gene': 'GC13P032297', 'score': 0.09}]

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