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
ENST00000580900 [[21802647, 21802780], [21815431, 21815518], [21816712, 21816771], [21818033, 21818201], [21837906, 21838009], [21854629, 21854869], [21859301, 21859424], [21931006, 21931646]] [[21802747, 21802780], [21815431, 21815518], [21816712, 21816771], [21818033, 21818201], [21837906, 21838009], [21854629, 21854869], [21859301, 21859424], [21931006, 21931198]]
ENST00000577563 [[21854722, 21854869], [21931006, 21931198]] [[21854722, 21854869], [21931006, 21931198]]
ENST00000380172 [[21802541, 21802780], [21815431, 21815518], [21816712, 21816771], [21818033, 21818201], [21837906, 21838009], [21854629, 21854869], [21859301, 21859424], [21861974, 21867077]] [[21802747, 21802780], [21815431, 21815518], [21816712, 21816771], [21818033, 21818201], [21837906, 21838009], [21854629, 21854869], [21859301, 21859424], [21861974, 21862013]]
ENST00000460874 [[21802640, 21802949], [21815431, 21815518], [21816712, 21816771], [21818033, 21818201], [21837906, 21838009], [21854629, 21854869], [21859301, 21859424], [21861974, 21862319]] [[21802865, 21802949], [21815431, 21815518], [21816712, 21816771], [21818033, 21818201], [21837906, 21838009], [21854629, 21854869], [21859301, 21859424], [21861974, 21862013]]
ENST00000580675 [[21802645, 21802780], [21815431, 21815606]] None
ENST00000419385 [[21802655, 21802780], [21815431, 21815543], [21816712, 21816771], [21818033, 21818201], [21837906, 21838009], [21854629, 21854869], [21859301, 21859424], [21861974, 21863285]] [[21802747, 21802780], [21815431, 21815543], [21816712, 21816720]]
ENST00000580718 [[21802660, 21802780], [21815431, 21815518], [21816712, 21816771], [21818033, 21818201], [21837906, 21838009], [21854629, 21854869], [21859284, 21859424], [21861974, 21862366]] [[21802747, 21802780], [21815431, 21815518], [21816712, 21816771], [21818033, 21818201], [21837906, 21838009], [21854629, 21854869], [21859284, 21859323]]
ENST00000579422 [[21802959, 21803380], [21815431, 21815518], [21816712, 21816771], [21818033, 21818044]] None
ENST00000427788 [[21803276, 21803380], [21808805, 21808999], [21813764, 21813885], [21815431, 21815518], [21816712, 21816771], [21818033, 21818201], [21837906, 21837926]] None
ENST00000584988 [[21856116, 21856222], [21859301, 21859424], [21861974, 21862356]] None
ENST00000581962 [[21859218, 21859424], [21861974, 21862091]] None
ENST00000484957 [[21859321, 21859424], [21861765, 21861816], [21861974, 21862219]] None
NM_002451 [[21802634, 21802780], [21815431, 21815518], [21816712, 21816771], [21818033, 21818201], [21837906, 21838009], [21854629, 21854869], [21859301, 21859424], [21861974, 21865970]] [[21802747, 21802780], [21815431, 21815518], [21816712, 21816771], [21818033, 21818201], [21837906, 21838009], [21854629, 21854869], [21859301, 21859424], [21861974, 21862013]]
Promoter
Chrom Start End Description
chr9 21802613 21802624 CAGE_peak_3_at_MTAP_5end
chr9 21802627 21802675 CAGE_peak_1_at_MTAP_5end
chr9 21802686 21802695 CAGE_peak_4_at_MTAP_5end
chr9 21862318 21862324 CAGE_peak_5_at_MTAP_5end
chr9 21994775 21994834 CAGE_peak_1_at_CDKN2B-AS_5end,CAGE_peak_2_at_MTAP_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I021989 21989562 21990800 1.16 [{'connected_gene': 'KLHL9', 'score': 19.37}, {'connected_gene': 'CDKN2A-AS1', 'score': 13.13}, {'connected_gene': 'UBA52P6', 'score': 12.6}, {'connected_gene': 'ENSG00000265194', 'score': 12.0}, {'connected_gene': 'MTAP', 'score': 11.15}, {'connected_gene': 'CDKN2B', 'score': 4.93}, {'connected_gene': 'CDKN2B-AS1', 'score': 0.77}, {'connected_gene': 'CDKN2A', 'score': 0.44}, {'connected_gene': 'GC09M021977', 'score': 0.39}, {'connected_gene': 'PIR47863', 'score': 0.39}, {'connected_gene': 'ENSG00000264545', 'score': 0.09}]
chr9 GH09I021787 21787737 21790318 1.19 [{'connected_gene': 'MTAP', 'score': 21.18}, {'connected_gene': 'MIR31', 'score': 10.11}, {'connected_gene': 'RN7SL151P', 'score': 0.17}]
chr9 GH09I021707 21707922 21709554 0.99 [{'connected_gene': 'MTAP', 'score': 15.18}, {'connected_gene': 'IFNA13', 'score': 9.87}, {'connected_gene': 'MIR31', 'score': 9.66}, {'connected_gene': 'IFNA6', 'score': 1.45}, {'connected_gene': 'IFNA1', 'score': 1.29}, {'connected_gene': 'RN7SL151P', 'score': 0.44}]
chr9 GH09I021710 21710251 21712238 0.58 [{'connected_gene': 'MTAP', 'score': 11.37}, {'connected_gene': 'IFNA13', 'score': 9.86}, {'connected_gene': 'MIR31', 'score': 9.66}, {'connected_gene': 'RN7SL151P', 'score': 0.39}]
chr9 GH09I021744 21744906 21745182 0.64 [{'connected_gene': 'MTAP', 'score': 16.31}, {'connected_gene': 'IFNA1', 'score': 8.22}, {'connected_gene': 'IFNA6', 'score': 7.12}, {'connected_gene': 'IFNA5', 'score': 2.08}, {'connected_gene': 'RN7SL151P', 'score': 0.25}]
chr9 GH09I021728 21728605 21729290 0.2 [{'connected_gene': 'MTAP', 'score': 16.47}, {'connected_gene': 'RN7SL151P', 'score': 0.31}]
chr9 GH09I021781 21781301 21783420 0.69 [{'connected_gene': 'MTAP', 'score': 25.75}, {'connected_gene': 'RN7SL151P', 'score': 0.18}]
chr9 GH09I021796 21796684 21797384 0.2 [{'connected_gene': 'MTAP', 'score': 20.17}, {'connected_gene': 'RN7SL151P', 'score': 0.15}]
chr9 GH09I021777 21777026 21779646 0.92 [{'connected_gene': 'MTAP', 'score': 28.43}, {'connected_gene': 'RN7SL151P', 'score': 0.18}]
chr9 GH09I021746 21746458 21748145 0.54 [{'connected_gene': 'MTAP', 'score': 16.97}, {'connected_gene': 'RN7SL151P', 'score': 0.25}]
chr9 GH09I021770 21770654 21772020 0.86 [{'connected_gene': 'MTAP', 'score': 20.26}, {'connected_gene': 'RN7SL151P', 'score': 0.19}]
chr9 GH09I021919 21919145 21920617 0.89 [{'connected_gene': 'MTAP', 'score': 5.67}, {'connected_gene': 'ERVFRD-3', 'score': 0.44}, {'connected_gene': 'GC09M021896', 'score': 0.39}, {'connected_gene': 'ENSG00000264545', 'score': 0.13}]
chr9 GH09I021830 21830168 21838154 1.5 [{'connected_gene': 'MTAP', 'score': 22.5}, {'connected_gene': 'TUBB8P1', 'score': 0.34}, {'connected_gene': 'ENSG00000265194', 'score': 0.31}, {'connected_gene': 'ENSG00000264545', 'score': 0.29}]
chr9 GH09I021801 21801123 21804421 2.19 [{'connected_gene': 'MTAP', 'score': 570.16}, {'connected_gene': 'ENSG00000264545', 'score': 550.77}, {'connected_gene': 'TUBB8P1', 'score': 6.03}, {'connected_gene': 'PIR60166', 'score': 0.44}]
chr9 GH09I021852 21852423 21857533 0.84 [{'connected_gene': 'MTAP', 'score': 24.69}, {'connected_gene': 'CDKN2B-AS1', 'score': 11.64}, {'connected_gene': 'CDKN2A', 'score': 11.63}, {'connected_gene': 'ENSG00000265194', 'score': 0.44}, {'connected_gene': 'TUBB8P1', 'score': 0.26}, {'connected_gene': 'ENSG00000264545', 'score': 0.23}]
chr9 GH09I021674 21674146 21691044 1.53 [{'connected_gene': 'MIR31', 'score': 9.98}, {'connected_gene': 'MTAP', 'score': 8.64}, {'connected_gene': 'CDKN2A', 'score': 5.99}, {'connected_gene': 'KHSRPP1', 'score': 0.39}, {'connected_gene': 'ENSG00000227443', 'score': 0.26}]
chr9 GH09I021695 21695811 21696233 0.49 [{'connected_gene': 'KHSRPP1', 'score': 550.77}, {'connected_gene': 'MTAP', 'score': 10.37}, {'connected_gene': 'RN7SL151P', 'score': 0.77}]
chr9 GH09I021694 21694352 21695355 0.2 [{'connected_gene': 'KHSRPP1', 'score': 550.77}, {'connected_gene': 'MTAP', 'score': 10.23}, {'connected_gene': 'ENSG00000227443', 'score': 0.22}]
chr9 GH09I021709 21709582 21709771 0.72 [{'connected_gene': 'IFNA13', 'score': 9.86}, {'connected_gene': 'MIR31', 'score': 9.66}, {'connected_gene': 'RN7SL151P', 'score': 0.39}, {'connected_gene': 'MTAP', 'score': 0.16}]
chr9 GH09I021702 21702720 21702757 0.24 [{'connected_gene': 'IFNA8', 'score': 6.01}, {'connected_gene': 'IFNA1', 'score': 3.51}, {'connected_gene': 'IFNA6', 'score': 2.76}, {'connected_gene': 'IFNA5', 'score': 1.61}, {'connected_gene': 'RN7SL151P', 'score': 0.77}, {'connected_gene': 'MTAP', 'score': 0.15}]
chr9 GH09I021901 21901396 21901429 0.22 [{'connected_gene': 'IFNA1', 'score': 3.23}, {'connected_gene': 'IFNA8', 'score': 1.3}, {'connected_gene': 'GC09M021896', 'score': 0.44}, {'connected_gene': 'ENSG00000279670', 'score': 0.44}, {'connected_gene': 'ENSG00000264545', 'score': 0.15}, {'connected_gene': 'MTAP', 'score': 0.15}]
chr9 GH09I021699 21699321 21699394 0.25 [{'connected_gene': 'RN7SL151P', 'score': 550.77}, {'connected_gene': 'KHSRPP1', 'score': 0.77}, {'connected_gene': 'MTAP', 'score': 0.15}]
chr9 GH09I022101 22101775 22106088 1.74 [{'connected_gene': 'CDKN2B', 'score': 1.79}, {'connected_gene': 'CDKN2A', 'score': 1.55}, {'connected_gene': 'MTAP', 'score': 1.43}, {'connected_gene': 'ENSG00000277653', 'score': 0.39}, {'connected_gene': 'ENSG00000274055', 'score': 0.22}, {'connected_gene': 'CDKN2B-AS1', 'score': 0.14}]
chr9 GH09I022039 22039229 22042903 0.88 [{'connected_gene': 'CDKN2B', 'score': 26.92}, {'connected_gene': 'CDKN2A', 'score': 11.88}, {'connected_gene': 'CDKN2B-AS1', 'score': 11.88}, {'connected_gene': 'MTAP', 'score': 11.7}, {'connected_gene': 'CDKN2A-AS1', 'score': 11.69}, {'connected_gene': 'UBA52P6', 'score': 11.27}, {'connected_gene': 'ENSG00000274055', 'score': 0.44}]
chr9 GH09I021978 21978546 21980278 0.43 [{'connected_gene': 'CDKN2B', 'score': 21.08}, {'connected_gene': 'UBA52P6', 'score': 11.64}, {'connected_gene': 'MTAP', 'score': 9.98}, {'connected_gene': 'GC09M021977', 'score': 0.77}, {'connected_gene': 'PIR47863', 'score': 0.77}, {'connected_gene': 'CDKN2A', 'score': 0.37}, {'connected_gene': 'CDKN2B-AS1', 'score': 0.37}, {'connected_gene': 'ENSG00000264545', 'score': 0.1}]
chr9 GH09I021974 21974247 21975683 2.07 [{'connected_gene': 'CDKN2A', 'score': 562.71}, {'connected_gene': 'GC09M021977', 'score': 550.77}, {'connected_gene': 'PIR47863', 'score': 550.77}, {'connected_gene': 'MTAP', 'score': 12.46}, {'connected_gene': 'CDKN2B', 'score': 11.13}, {'connected_gene': 'UBA52P6', 'score': 11.11}, {'connected_gene': 'CDKN2A-AS1', 'score': 0.44}, {'connected_gene': 'ENSG00000264545', 'score': 0.09}]
chr9 GH09I022036 22036585 22038573 0.74 [{'connected_gene': 'CDKN2A', 'score': 11.98}, {'connected_gene': 'CDKN2B-AS1', 'score': 11.98}, {'connected_gene': 'MTAP', 'score': 11.78}, {'connected_gene': 'UBA52P6', 'score': 11.76}, {'connected_gene': 'CDKN2B', 'score': 11.76}, {'connected_gene': 'ENSG00000274055', 'score': 0.44}]
chr9 GH09I022111 22111188 22112547 0.58 [{'connected_gene': 'CDKN2A', 'score': 10.78}, {'connected_gene': 'CDKN2B-AS1', 'score': 10.78}, {'connected_gene': 'MTAP', 'score': 10.71}, {'connected_gene': 'ENSG00000277653', 'score': 0.44}, {'connected_gene': 'ENSG00000274055', 'score': 0.2}]
chr9 GH09I022106 22106687 22109801 0.99 [{'connected_gene': 'CDKN2A', 'score': 10.79}, {'connected_gene': 'CDKN2B-AS1', 'score': 10.79}, {'connected_gene': 'MTAP', 'score': 10.71}, {'connected_gene': 'ENSG00000277653', 'score': 0.44}, {'connected_gene': 'ENSG00000274055', 'score': 0.21}]
chr9 GH09I022115 22115082 22115231 0.4 [{'connected_gene': 'CDKN2A', 'score': 10.78}, {'connected_gene': 'CDKN2B-AS1', 'score': 10.78}, {'connected_gene': 'MTAP', 'score': 10.71}, {'connected_gene': 'ENSG00000277653', 'score': 0.77}, {'connected_gene': 'ENSG00000274055', 'score': 0.2}]
chr9 GH09I022113 22113114 22113754 0.49 [{'connected_gene': 'CDKN2A', 'score': 10.78}, {'connected_gene': 'CDKN2B-AS1', 'score': 10.78}, {'connected_gene': 'MTAP', 'score': 10.71}, {'connected_gene': 'ENSG00000277653', 'score': 0.77}, {'connected_gene': 'ENSG00000274055', 'score': 0.2}]
chr9 GH09I022112 22112782 22112814 0.4 [{'connected_gene': 'CDKN2A', 'score': 10.78}, {'connected_gene': 'CDKN2B-AS1', 'score': 10.78}, {'connected_gene': 'MTAP', 'score': 10.71}, {'connected_gene': 'ENSG00000277653', 'score': 0.77}, {'connected_gene': 'ENSG00000274055', 'score': 0.2}]
chr9 GH09I021996 21996543 21996791 1.13 [{'connected_gene': 'CDKN2A', 'score': 557.14}, {'connected_gene': 'CDKN2B-AS1', 'score': 550.77}, {'connected_gene': 'ENSG00000266446', 'score': 550.77}, {'connected_gene': 'CDKN2B', 'score': 12.56}, {'connected_gene': 'MTAP', 'score': 2.4}, {'connected_gene': 'ENSG00000264545', 'score': 0.08}]
chr9 GH09I021983 21983401 21983600 0.51 [{'connected_gene': 'UBA52P6', 'score': 11.66}, {'connected_gene': 'CDKN2B', 'score': 11.66}, {'connected_gene': 'MTAP', 'score': 9.98}, {'connected_gene': 'GC09M021977', 'score': 0.44}, {'connected_gene': 'PIR47863', 'score': 0.44}, {'connected_gene': 'CDKN2A', 'score': 0.39}, {'connected_gene': 'CDKN2B-AS1', 'score': 0.39}, {'connected_gene': 'ENSG00000264545', 'score': 0.09}]
chr9 GH09I021984 21984232 21984382 0.45 [{'connected_gene': 'UBA52P6', 'score': 11.66}, {'connected_gene': 'CDKN2B', 'score': 11.66}, {'connected_gene': 'MTAP', 'score': 9.98}, {'connected_gene': 'GC09M021977', 'score': 0.44}, {'connected_gene': 'PIR47863', 'score': 0.44}, {'connected_gene': 'CDKN2A', 'score': 0.39}, {'connected_gene': 'CDKN2B-AS1', 'score': 0.39}, {'connected_gene': 'ENSG00000264545', 'score': 0.09}]
chr9 GH09I021817 21817236 21817451 0.64 [{'connected_gene': 'UBA52P6', 'score': 10.99}, {'connected_gene': 'CDKN2B', 'score': 10.99}, {'connected_gene': 'TUBB8P1', 'score': 0.77}, {'connected_gene': 'ENSG00000264545', 'score': 0.39}, {'connected_gene': 'MTAP', 'score': 0.39}, {'connected_gene': 'ENSG00000265194', 'score': 0.26}]
chr9 GH09I022116 22116508 22119608 1.36 [{'connected_gene': 'ENSG00000277653', 'score': 550.77}, {'connected_gene': 'MTAP', 'score': 21.78}, {'connected_gene': 'ENSG00000265194', 'score': 11.94}, {'connected_gene': 'KLHL9', 'score': 11.39}, {'connected_gene': 'CDKN2A', 'score': 10.78}, {'connected_gene': 'CDKN2B-AS1', 'score': 10.78}, {'connected_gene': 'GC09M022195', 'score': 0.17}]
chr9 GH09I021977 21977503 21978203 0.43 [{'connected_gene': 'GC09M021977', 'score': 550.77}, {'connected_gene': 'PIR47863', 'score': 550.77}, {'connected_gene': 'MTAP', 'score': 12.52}, {'connected_gene': 'CDKN2A', 'score': 0.37}, {'connected_gene': 'CDKN2B-AS1', 'score': 0.37}, {'connected_gene': 'ENSG00000264545', 'score': 0.1}]
chr9 GH09I021872 21872822 21874706 0.49 [{'connected_gene': 'ENSG00000265194', 'score': 0.39}, {'connected_gene': 'ENSG00000279670', 'score': 0.37}, {'connected_gene': 'ENSG00000264545', 'score': 0.19}, {'connected_gene': 'MTAP', 'score': 0.19}]
chr9 GH09I021863 21863782 21863931 0.68 [{'connected_gene': 'ENSG00000265194', 'score': 550.77}, {'connected_gene': 'ENSG00000279670', 'score': 0.31}, {'connected_gene': 'ENSG00000264545', 'score': 0.21}, {'connected_gene': 'MTAP', 'score': 0.21}]
chr9 GH09I022044 22044662 22044891 0.46 [{'connected_gene': 'ENSG00000274055', 'score': 550.77}, {'connected_gene': 'CDKN2A', 'score': 12.43}, {'connected_gene': 'CDKN2B-AS1', 'score': 12.43}, {'connected_gene': 'MTAP', 'score': 12.25}, {'connected_gene': 'UBA52P6', 'score': 11.85}, {'connected_gene': 'CDKN2B', 'score': 11.84}]
chr9 GH09I021933 21933382 21933531 0.2 [{'connected_gene': 'PIR35648', 'score': 550.77}, {'connected_gene': 'ERVFRD-3', 'score': 0.77}, {'connected_gene': 'ENSG00000264545', 'score': 0.12}, {'connected_gene': 'MTAP', 'score': 0.12}]
chr9 GH09I021809 21809707 21814482 1.52 [{'connected_gene': 'PIR60166', 'score': 550.77}, {'connected_gene': 'TUBB8P1', 'score': 550.77}, {'connected_gene': 'MTAP', 'score': 17.5}, {'connected_gene': 'CDKN2B-AS1', 'score': 11.85}, {'connected_gene': 'CDKN2A', 'score': 11.85}, {'connected_gene': 'CDKN2A-AS1', 'score': 11.59}, {'connected_gene': 'UBA52P6', 'score': 11.49}, {'connected_gene': 'CDKN2B', 'score': 11.49}, {'connected_gene': 'ENSG00000264545', 'score': 0.44}]

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