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
ENST00000487761 [[32158542, 32159280], [32159485, 32159685], [32159924, 32160049], [32160248, 32160645]] [[32159142, 32159280], [32159485, 32159685], [32159924, 32160049], [32160248, 32160259]]
ENST00000472768 [[32158542, 32159280], [32159485, 32159647], [32159924, 32160027], [32160248, 32160662]] [[32159642, 32159647], [32159924, 32160027], [32160248, 32160290]]
ENST00000375040 [[32158542, 32159280], [32159485, 32159685], [32159924, 32160027], [32160248, 32160683]] [[32159142, 32159280], [32159485, 32159685], [32159924, 32160027], [32160248, 32160290]]
ENST00000375043 [[32158542, 32159280], [32159485, 32159685], [32159924, 32160027], [32160248, 32160307], [32160817, 32160901], [32162086, 32162167], [32162513, 32162606], [32163202, 32163300]] [[32159142, 32159280], [32159485, 32159685], [32159924, 32160027], [32160248, 32160290]]
NM_001276501 [[32158542, 32159280], [32159485, 32159685], [32159924, 32160027], [32160248, 32160692]] [[32159142, 32159280], [32159485, 32159685], [32159924, 32160027], [32160248, 32160290]]
NM_022107 [[32158542, 32159280], [32159485, 32159685], [32159924, 32160027], [32160248, 32160307], [32160817, 32160901], [32162086, 32162167], [32162513, 32162606], [32163202, 32163300]] [[32159142, 32159280], [32159485, 32159685], [32159924, 32160027], [32160248, 32160290]]
NM_001276501 [[3473280, 3474018], [3474223, 3474423], [3474662, 3474765], [3474986, 3475430]] [[3473880, 3474018], [3474223, 3474423], [3474662, 3474765], [3474986, 3475028]]
NM_022107 [[3473280, 3474018], [3474223, 3474423], [3474662, 3474765], [3474986, 3475045], [3475555, 3475639], [3476824, 3476905], [3477251, 3477344], [3477940, 3478038]] [[3473880, 3474018], [3474223, 3474423], [3474662, 3474765], [3474986, 3475028]]
NM_001276501 [[3629220, 3629958], [3630163, 3630363], [3630602, 3630705], [3630926, 3631370]] [[3629820, 3629958], [3630163, 3630363], [3630602, 3630705], [3630926, 3630968]]
NM_022107 [[3629220, 3629958], [3630163, 3630363], [3630602, 3630705], [3630926, 3630985], [3631495, 3631579], [3632764, 3632845], [3633191, 3633284], [3633880, 3633978]] [[3629820, 3629958], [3630163, 3630363], [3630602, 3630705], [3630926, 3630968]]
NM_001276501 [[3538366, 3539104], [3539309, 3539509], [3539748, 3539851], [3540072, 3540516]] [[3538966, 3539104], [3539309, 3539509], [3539748, 3539851], [3540072, 3540114]]
NM_022107 [[3538366, 3539104], [3539309, 3539509], [3539748, 3539851], [3540072, 3540131], [3540641, 3540725], [3541910, 3541991], [3542337, 3542430], [3543026, 3543124]] [[3538966, 3539104], [3539309, 3539509], [3539748, 3539851], [3540072, 3540114]]
NM_001276501 [[3419560, 3420298], [3420503, 3420703], [3420942, 3421045], [3421266, 3421710]] [[3420160, 3420298], [3420503, 3420703], [3420942, 3421045], [3421266, 3421308]]
NM_022107 [[3419560, 3420298], [3420503, 3420703], [3420942, 3421045], [3421266, 3421325], [3421835, 3421919], [3423104, 3423185], [3423531, 3423624], [3424220, 3424318]] [[3420160, 3420298], [3420503, 3420703], [3420942, 3421045], [3421266, 3421308]]
NM_001276501 [[3501363, 3502101], [3502306, 3502506], [3502745, 3502848], [3503069, 3503513]] [[3501963, 3502101], [3502306, 3502506], [3502745, 3502848], [3503069, 3503111]]
NM_022107 [[3501363, 3502101], [3502306, 3502506], [3502745, 3502848], [3503069, 3503128], [3503638, 3503722], [3504907, 3504988], [3505334, 3505427], [3506023, 3506121]] [[3501963, 3502101], [3502306, 3502506], [3502745, 3502848], [3503069, 3503111]]
NM_001276501 [[3506268, 3507006], [3507211, 3507411], [3507650, 3507753], [3507974, 3508418]] [[3506868, 3507006], [3507211, 3507411], [3507650, 3507753], [3507974, 3508016]]
NM_022107 [[3506268, 3507006], [3507211, 3507411], [3507650, 3507753], [3507974, 3508033], [3508543, 3508627], [3509812, 3509893], [3510239, 3510332], [3510928, 3511026]] [[3506868, 3507006], [3507211, 3507411], [3507650, 3507753], [3507974, 3508016]]
Promoter
Chrom Start End Description
chr6 32160365 32160403 CAGE_peak_3_at_GPSM3_5end
chr6 32160407 32160449 CAGE_peak_1_at_GPSM3_5end
chr6 32160539 32160550 CAGE_peak_5_at_GPSM3_5end
chr6 32160607 32160614 CAGE_peak_6_at_GPSM3_5end
chr6 32160622 32160719 CAGE_peak_2_at_GPSM3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I031792 31792367 31799022 2.75 [{'connected_gene': 'VARS2', 'score': 559.82}, {'connected_gene': 'VARS', 'score': 550.77}, {'connected_gene': 'MSH5', 'score': 21.8}, {'connected_gene': 'SKIV2L', 'score': 21.77}, {'connected_gene': 'C4A', 'score': 20.35}, {'connected_gene': 'LSM2', 'score': 19.77}, {'connected_gene': 'ATF6B', 'score': 16.77}, {'connected_gene': 'BAG6', 'score': 15.4}, {'connected_gene': 'LY6G5B', 'score': 14.4}, {'connected_gene': 'HLA-DRB5', 'score': 13.42}, {'connected_gene': 'RPL3P2', 'score': 13.38}, {'connected_gene': 'DDX39B', 'score': 11.35}, {'connected_gene': 'PBX2', 'score': 10.89}, {'connected_gene': 'LY6G5C', 'score': 10.85}, {'connected_gene': 'SAPCD1', 'score': 10.67}, {'connected_gene': 'LTB', 'score': 10.18}, {'connected_gene': 'HLA-DQA2', 'score': 9.92}, {'connected_gene': 'GTF2H4', 'score': 9.91}, {'connected_gene': 'HLA-C', 'score': 9.91}, {'connected_gene': 'HLA-DQA1', 'score': 9.9}, {'connected_gene': 'HLA-DQB2', 'score': 9.66}, {'connected_gene': 'AGER', 'score': 6.12}, {'connected_gene': 'GPSM3', 'score': 5.45}, {'connected_gene': 'GC06M031908', 'score': 0.37}, {'connected_gene': 'ENSG00000201555', 'score': 0.37}]
chr6 GH06I032185 32184602 32197957 2.54 [{'connected_gene': 'PBX2', 'score': 575.9}, {'connected_gene': 'GPSM3', 'score': 550.77}, {'connected_gene': 'ATF6B', 'score': 43.48}, {'connected_gene': 'DDX39B', 'score': 42.43}, {'connected_gene': 'BRD2', 'score': 33.02}, {'connected_gene': 'LSM2', 'score': 31.35}, {'connected_gene': 'LY6G5B', 'score': 29.56}, {'connected_gene': 'HLA-DRB1', 'score': 27.91}, {'connected_gene': 'MSH5', 'score': 21.88}, {'connected_gene': 'MICA', 'score': 21.32}, {'connected_gene': 'RPL3P2', 'score': 21.17}, {'connected_gene': 'AGER', 'score': 20.02}, {'connected_gene': 'RNF5', 'score': 19.95}, {'connected_gene': 'SKIV2L', 'score': 18.93}, {'connected_gene': 'NOTCH4', 'score': 16.13}, {'connected_gene': 'STK19B', 'score': 16.08}, {'connected_gene': 'C4A', 'score': 14.86}, {'connected_gene': 'CSNK2B', 'score': 12.24}, {'connected_gene': 'C6orf47', 'score': 12.19}, {'connected_gene': 'NFKBIL1', 'score': 11.98}, {'connected_gene': 'GPANK1', 'score': 11.04}, {'connected_gene': 'EHMT2', 'score': 10.99}, {'connected_gene': 'SAPCD1', 'score': 10.42}, {'connected_gene': 'BAG6', 'score': 9.87}, {'connected_gene': 'CLIC1', 'score': 9.68}, {'connected_gene': 'TNXA', 'score': 8.87}, {'connected_gene': 'HLA-DQA2', 'score': 8.38}, {'connected_gene': 'DXO', 'score': 7.78}, {'connected_gene': 'HLA-DRB6', 'score': 6.09}, {'connected_gene': 'HLA-C', 'score': 5.46}, {'connected_gene': 'VWA7', 'score': 4.47}, {'connected_gene': 'ENSG00000273333', 'score': 0.44}]
chr6 GH06I031733 31733220 31741689 2.72 [{'connected_gene': 'MSH5', 'score': 604.02}, {'connected_gene': 'CLIC1', 'score': 559.22}, {'connected_gene': 'DDX39B', 'score': 106.6}, {'connected_gene': 'LY6G5B', 'score': 102.51}, {'connected_gene': 'ATF6B', 'score': 92.91}, {'connected_gene': 'LSM2', 'score': 79.87}, {'connected_gene': 'CSNK2B', 'score': 72.29}, {'connected_gene': 'SKIV2L', 'score': 68.8}, {'connected_gene': 'GPANK1', 'score': 56.74}, {'connected_gene': 'BAG6', 'score': 52.9}, {'connected_gene': 'PBX2', 'score': 51.74}, {'connected_gene': 'NFKBIL1', 'score': 49.46}, {'connected_gene': 'VARS', 'score': 47.52}, {'connected_gene': 'CCHCR1', 'score': 42.83}, {'connected_gene': 'TCF19', 'score': 41.5}, {'connected_gene': 'GTF2H4', 'score': 38.05}, {'connected_gene': 'MICA', 'score': 37.35}, {'connected_gene': 'LY6G5C', 'score': 33.77}, {'connected_gene': 'C6orf47', 'score': 32.5}, {'connected_gene': 'RPL3P2', 'score': 31.35}, {'connected_gene': 'SAPCD1', 'score': 23.38}, {'connected_gene': 'ABHD16A', 'score': 22.21}, {'connected_gene': 'PPT2', 'score': 21.82}, {'connected_gene': 'TNXB', 'score': 21.38}, {'connected_gene': 'NELFE', 'score': 21.11}, {'connected_gene': 'C4A', 'score': 20.11}, {'connected_gene': 'DXO', 'score': 19.38}, {'connected_gene': 'HSPA1L', 'score': 16.48}, {'connected_gene': 'HLA-C', 'score': 14.71}, {'connected_gene': 'STK19', 'score': 14.58}, {'connected_gene': 'MICB', 'score': 14.42}, {'connected_gene': 'LY6G6C', 'score': 14.12}, {'connected_gene': 'HSPA1A', 'score': 12.66}, {'connected_gene': 'ENSG00000204422', 'score': 12.39}, {'connected_gene': 'LY6G6E', 'score': 12.39}, {'connected_gene': 'LY6G6D', 'score': 12.39}, {'connected_gene': 'SAPCD1-AS1', 'score': 12.13}, {'connected_gene': 'VWA7', 'score': 12.1}, {'connected_gene': 'ENSG00000201555', 'score': 11.61}, {'connected_gene': 'HLA-B', 'score': 11.55}, {'connected_gene': 'HLA-DRB1', 'score': 11.23}, {'connected_gene': 'ENSG00000201207', 'score': 10.89}, {'connected_gene': 'EGFL8', 'score': 10.25}, {'connected_gene': 'FKBPL', 'score': 9.92}, {'connected_gene': 'HLA-DQA1', 'score': 9.9}, {'connected_gene': 'GPSM3', 'score': 6.67}, {'connected_gene': 'LST1', 'score': 4.77}, {'connected_gene': 'MPIG6B', 'score': 4.67}, {'connected_gene': 'ATP6V1G2', 'score': 4.22}, {'connected_gene': 'NEU1', 'score': 3.64}, {'connected_gene': 'TNF', 'score': 3.54}, {'connected_gene': 'AGPAT1', 'score': 3.26}, {'connected_gene': 'AIF1', 'score': 2.41}, {'connected_gene': 'HSPA1B', 'score': 1.44}, {'connected_gene': 'LOC105375020', 'score': 0.77}, {'connected_gene': 'MSH5-SAPCD1', 'score': 0.77}, {'connected_gene': 'DDAH2', 'score': 0.44}]
chr6 GH06I032435 32435694 32443181 2.62 [{'connected_gene': 'HLA-DRA', 'score': 560.51}, {'connected_gene': 'HLA-DRB1', 'score': 52.4}, {'connected_gene': 'HLA-DQB1', 'score': 41.22}, {'connected_gene': 'HLA-DRB5', 'score': 30.61}, {'connected_gene': 'HLA-DQA2', 'score': 26.08}, {'connected_gene': 'HLA-DRB6', 'score': 24.69}, {'connected_gene': 'C4A', 'score': 20.71}, {'connected_gene': 'HLA-DQA1', 'score': 13.9}, {'connected_gene': 'HLA-DQB1-AS1', 'score': 11.69}, {'connected_gene': 'PSMB8', 'score': 10.1}, {'connected_gene': 'MICB', 'score': 9.89}, {'connected_gene': 'HLA-DOB', 'score': 5.83}, {'connected_gene': 'STK19', 'score': 5.81}, {'connected_gene': 'CYP21A1P', 'score': 4.76}, {'connected_gene': 'TAP1', 'score': 4.23}, {'connected_gene': 'LY6G5B', 'score': 4.22}, {'connected_gene': 'TAP2', 'score': 3.38}, {'connected_gene': 'PSMB9', 'score': 2.09}, {'connected_gene': 'HLA-DQB2', 'score': 1.86}, {'connected_gene': 'GPSM3', 'score': 1.39}, {'connected_gene': 'BTNL2', 'score': 0.29}]
chr6 GH06I032633 32633383 32640625 2.09 [{'connected_gene': 'HLA-DQA1', 'score': 651.79}, {'connected_gene': 'GC06P032638', 'score': 550.77}, {'connected_gene': 'GC06P032637', 'score': 550.77}, {'connected_gene': 'HLA-DQB1', 'score': 86.74}, {'connected_gene': 'HLA-DQA2', 'score': 80.44}, {'connected_gene': 'HLA-DRB1', 'score': 72.85}, {'connected_gene': 'HLA-DQB2', 'score': 60.63}, {'connected_gene': 'HLA-DRB5', 'score': 52.83}, {'connected_gene': 'PPT2', 'score': 47.35}, {'connected_gene': 'HLA-DRB6', 'score': 42.05}, {'connected_gene': 'HCG25', 'score': 39.69}, {'connected_gene': 'VPS52', 'score': 32.66}, {'connected_gene': 'EGFL8', 'score': 32.51}, {'connected_gene': 'RING1', 'score': 28.34}, {'connected_gene': 'BRD2', 'score': 22.01}, {'connected_gene': 'CYP21A1P', 'score': 18.42}, {'connected_gene': 'MSH5', 'score': 14.74}, {'connected_gene': 'HLA-DQB1-AS1', 'score': 14.11}, {'connected_gene': 'DAXX', 'score': 12.92}, {'connected_gene': 'ZBTB12', 'score': 12.87}, {'connected_gene': 'EHMT2', 'score': 12.5}, {'connected_gene': 'ATF6B', 'score': 12.21}, {'connected_gene': 'CSNK2B', 'score': 12.08}, {'connected_gene': 'NELFE', 'score': 12.02}, {'connected_gene': 'B3GALT4', 'score': 11.63}, {'connected_gene': 'HCG23', 'score': 11.5}, {'connected_gene': 'SAPCD1', 'score': 11.28}, {'connected_gene': 'LSM2', 'score': 10.87}, {'connected_gene': 'GPANK1', 'score': 10.5}, {'connected_gene': 'SYNGAP1', 'score': 10.45}, {'connected_gene': 'LOC101929163', 'score': 10.24}, {'connected_gene': 'WDR46', 'score': 10.18}, {'connected_gene': 'FKBPL', 'score': 9.9}, {'connected_gene': 'PRRT1', 'score': 9.84}, {'connected_gene': 'C6orf48', 'score': 9.83}, {'connected_gene': 'KIFC1', 'score': 9.69}, {'connected_gene': 'HLA-DRA', 'score': 9.1}, {'connected_gene': 'HLA-DPB1', 'score': 8.91}, {'connected_gene': 'HLA-DPA1', 'score': 7.43}, {'connected_gene': 'HLA-DMA', 'score': 4.86}, {'connected_gene': 'HLA-DMB', 'score': 4.84}, {'connected_gene': 'DDAH2', 'score': 4.61}, {'connected_gene': 'HLA-DOA', 'score': 4.13}, {'connected_gene': 'HLA-DOB', 'score': 2.3}, {'connected_gene': 'PSMB8', 'score': 2.0}, {'connected_gene': 'TAP2', 'score': 1.76}, {'connected_gene': 'TAP1', 'score': 1.65}, {'connected_gene': 'GPSM3', 'score': 1.3}]
chr6 GH06I032602 32602024 32612321 1.67 [{'connected_gene': 'HLA-DRB1', 'score': 104.95}, {'connected_gene': 'HLA-DRB5', 'score': 60.65}, {'connected_gene': 'HLA-DQA1', 'score': 56.1}, {'connected_gene': 'HLA-DQA2', 'score': 51.4}, {'connected_gene': 'HLA-DRB6', 'score': 35.48}, {'connected_gene': 'C4A', 'score': 17.83}, {'connected_gene': 'HLA-DQB2', 'score': 16.53}, {'connected_gene': 'HLA-DOB', 'score': 16.2}, {'connected_gene': 'HLA-DQB1', 'score': 14.79}, {'connected_gene': 'HLA-DMA', 'score': 10.52}, {'connected_gene': 'HLA-DQB1-AS1', 'score': 8.98}, {'connected_gene': 'HLA-DPB1', 'score': 8.93}, {'connected_gene': 'HLA-DMB', 'score': 8.06}, {'connected_gene': 'PSMB8', 'score': 7.93}, {'connected_gene': 'HLA-DRA', 'score': 7.87}, {'connected_gene': 'HLA-DOA', 'score': 7.0}, {'connected_gene': 'HLA-DPA1', 'score': 6.94}, {'connected_gene': 'BRD2', 'score': 5.24}, {'connected_gene': 'TAP2', 'score': 4.42}, {'connected_gene': 'TAP1', 'score': 3.04}, {'connected_gene': 'PSMB9', 'score': 3.02}, {'connected_gene': 'AGPAT1', 'score': 1.52}, {'connected_gene': 'GPSM3', 'score': 1.29}, {'connected_gene': 'GC06P032612', 'score': 0.44}]
chr6 GH06I032621 32621068 32629376 1.63 [{'connected_gene': 'HLA-DRB1', 'score': 86.81}, {'connected_gene': 'HLA-DQA2', 'score': 74.83}, {'connected_gene': 'HLA-DRB6', 'score': 72.99}, {'connected_gene': 'HLA-DQB1', 'score': 44.64}, {'connected_gene': 'HLA-DRB5', 'score': 41.86}, {'connected_gene': 'HLA-DQB2', 'score': 28.21}, {'connected_gene': 'HLA-DQA1', 'score': 22.2}, {'connected_gene': 'CYP21A1P', 'score': 13.83}, {'connected_gene': 'BRD2', 'score': 12.77}, {'connected_gene': 'HLA-DQB1-AS1', 'score': 12.7}, {'connected_gene': 'VPS52', 'score': 11.79}, {'connected_gene': 'RXRB', 'score': 9.74}, {'connected_gene': 'ATF6B', 'score': 9.7}, {'connected_gene': 'HLA-DPB1', 'score': 8.95}, {'connected_gene': 'HLA-DPA1', 'score': 7.68}, {'connected_gene': 'HLA-DMA', 'score': 7.18}, {'connected_gene': 'HLA-DMB', 'score': 6.92}, {'connected_gene': 'HLA-DRA', 'score': 6.74}, {'connected_gene': 'HCG23', 'score': 6.62}, {'connected_gene': 'C4A', 'score': 6.54}, {'connected_gene': 'HLA-DOB', 'score': 6.54}, {'connected_gene': 'PSMB8', 'score': 5.19}, {'connected_gene': 'HLA-DOA', 'score': 5.14}, {'connected_gene': 'TAP2', 'score': 3.73}, {'connected_gene': 'PSMB9', 'score': 2.97}, {'connected_gene': 'AGPAT1', 'score': 1.35}, {'connected_gene': 'GPSM3', 'score': 1.26}, {'connected_gene': 'GC06P032612', 'score': 0.39}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.