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
ENST00000433076 [[30312907, 30313005], [30313074, 30313175], [30313243, 30313350], [30314208, 30314334], [30314489, 30314634]] [[30312948, 30313005], [30313074, 30313175], [30313243, 30313350], [30314208, 30314334], [30314489, 30314587]]
ENST00000466327 [[30312910, 30313005], [30313074, 30313175], [30313267, 30313706], [30314208, 30314270]] None
ENST00000498414 [[30312918, 30313005], [30313074, 30314334], [30314489, 30314634]] None
ENST00000489124 [[30312927, 30313005], [30313074, 30313175], [30314208, 30314334], [30314489, 30314634]] None
ENST00000491477 [[30312929, 30313005], [30313267, 30313350], [30314208, 30314334], [30314489, 30314661]] None
ENST00000473266 [[30312931, 30313005], [30313074, 30313350], [30314208, 30314334], [30314489, 30314634]] None
ENST00000442966 [[30312935, 30313005], [30313074, 30313175], [30313267, 30313350], [30314208, 30314334], [30314489, 30314634]] [[30312948, 30313005], [30313074, 30313175], [30313267, 30313350], [30314208, 30314334], [30314489, 30314587]]
ENST00000428040 [[30312935, 30313175], [30313267, 30313350], [30314208, 30314334], [30314489, 30314634]] [[30312948, 30313175], [30313267, 30313350], [30314208, 30314334], [30314489, 30314587]]
ENST00000436442 [[30312945, 30313005], [30313074, 30313175], [30313267, 30313350], [30314208, 30314341], [30314489, 30314634]] [[30312948, 30313005], [30313074, 30313175], [30313267, 30313350], [30314208, 30314341], [30314489, 30314550]]
NM_024839 [[30312905, 30313005], [30313074, 30313175], [30313267, 30313350], [30314208, 30314334], [30314489, 30314635]] [[30312948, 30313005], [30313074, 30313175], [30313267, 30313350], [30314208, 30314334], [30314489, 30314587]]
NM_001199121 [[30312905, 30313005], [30313074, 30313175], [30313267, 30313350], [30314208, 30314341], [30314489, 30314635]] [[30312948, 30313005], [30313074, 30313175], [30313267, 30313350], [30314208, 30314341], [30314489, 30314550]]
NM_001199120 [[30312905, 30313005], [30313074, 30313175], [30313243, 30313350], [30314208, 30314334], [30314489, 30314635]] [[30312948, 30313005], [30313074, 30313175], [30313243, 30313350], [30314208, 30314334], [30314489, 30314587]]
NM_024839 [[1624540, 1624640], [1624709, 1624810], [1624902, 1624985], [1625843, 1625969], [1626124, 1626270]] [[1624583, 1624640], [1624709, 1624810], [1624902, 1624985], [1625843, 1625969], [1626124, 1626222]]
NM_001199121 [[1624540, 1624640], [1624709, 1624810], [1624902, 1624985], [1625843, 1625976], [1626124, 1626270]] [[1624583, 1624640], [1624709, 1624810], [1624902, 1624985], [1625843, 1625976], [1626124, 1626185]]
NM_001199120 [[1624540, 1624640], [1624709, 1624810], [1624878, 1624985], [1625843, 1625969], [1626124, 1626270]] [[1624583, 1624640], [1624709, 1624810], [1624878, 1624985], [1625843, 1625969], [1626124, 1626222]]
NM_024839 [[1824915, 1825015], [1825084, 1825185], [1825277, 1825360], [1826218, 1826344], [1826499, 1826645]] [[1824958, 1825015], [1825084, 1825185], [1825277, 1825360], [1826218, 1826344], [1826499, 1826597]]
NM_001199121 [[1824915, 1825015], [1825084, 1825185], [1825277, 1825360], [1826218, 1826351], [1826499, 1826645]] [[1824958, 1825015], [1825084, 1825185], [1825277, 1825360], [1826218, 1826351], [1826499, 1826560]]
NM_001199120 [[1824915, 1825015], [1825084, 1825185], [1825253, 1825360], [1826218, 1826344], [1826499, 1826645]] [[1824958, 1825015], [1825084, 1825185], [1825253, 1825360], [1826218, 1826344], [1826499, 1826597]]
NM_024839 [[1606559, 1606659], [1606728, 1606829], [1606921, 1607004], [1607862, 1607988], [1608143, 1608289]] [[1606602, 1606659], [1606728, 1606829], [1606921, 1607004], [1607862, 1607988], [1608143, 1608241]]
NM_001199121 [[1606559, 1606659], [1606728, 1606829], [1606921, 1607004], [1607862, 1607995], [1608143, 1608289]] [[1606602, 1606659], [1606728, 1606829], [1606921, 1607004], [1607862, 1607995], [1608143, 1608204]]
NM_001199120 [[1606559, 1606659], [1606728, 1606829], [1606897, 1607004], [1607862, 1607988], [1608143, 1608289]] [[1606602, 1606659], [1606728, 1606829], [1606897, 1607004], [1607862, 1607988], [1608143, 1608241]]
NM_024839 [[1605806, 1605906], [1605975, 1606076], [1606168, 1606251], [1607109, 1607235], [1607390, 1607536]] [[1605849, 1605906], [1605975, 1606076], [1606168, 1606251], [1607109, 1607235], [1607390, 1607488]]
NM_001199121 [[1605806, 1605906], [1605975, 1606076], [1606168, 1606251], [1607109, 1607242], [1607390, 1607536]] [[1605849, 1605906], [1605975, 1606076], [1606168, 1606251], [1607109, 1607242], [1607390, 1607451]]
NM_001199120 [[1605806, 1605906], [1605975, 1606076], [1606144, 1606251], [1607109, 1607235], [1607390, 1607536]] [[1605849, 1605906], [1605975, 1606076], [1606144, 1606251], [1607109, 1607235], [1607390, 1607488]]
NM_024839 [[1660980, 1661082], [1661151, 1661252], [1661344, 1661427], [1662285, 1662411], [1662566, 1662712]] [[1661025, 1661082], [1661151, 1661252], [1661344, 1661427], [1662285, 1662411], [1662566, 1662664]]
NM_001199121 [[1660980, 1661082], [1661151, 1661252], [1661344, 1661427], [1662285, 1662418], [1662566, 1662712]] [[1661025, 1661082], [1661151, 1661252], [1661344, 1661427], [1662285, 1662418], [1662566, 1662627]]
NM_001199120 [[1660980, 1661082], [1661151, 1661252], [1661320, 1661427], [1662285, 1662411], [1662566, 1662712]] [[1661025, 1661082], [1661151, 1661252], [1661320, 1661427], [1662285, 1662411], [1662566, 1662664]]
NM_024839 [[1642883, 1642983], [1643052, 1643153], [1643245, 1643328], [1644186, 1644312], [1644467, 1644613]] [[1642926, 1642983], [1643052, 1643153], [1643245, 1643328], [1644186, 1644312], [1644467, 1644565]]
NM_001199121 [[1642883, 1642983], [1643052, 1643153], [1643245, 1643328], [1644186, 1644319], [1644467, 1644613]] [[1642926, 1642983], [1643052, 1643153], [1643245, 1643328], [1644186, 1644319], [1644467, 1644528]]
NM_001199120 [[1642883, 1642983], [1643052, 1643153], [1643221, 1643328], [1644186, 1644312], [1644467, 1644613]] [[1642926, 1642983], [1643052, 1643153], [1643221, 1643328], [1644186, 1644312], [1644467, 1644565]]
Promoter
Chrom Start End Description
chr6 30312916 30312950 CAGE_peak_1_at_RPP21_5end
chr6 30312986 30313014 CAGE_peak_2_at_RPP21_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I030500 30500401 30501200 0.89 [{'connected_gene': 'PRR3', 'score': 12.4}, {'connected_gene': 'GNL1', 'score': 12.4}, {'connected_gene': 'ABCF1', 'score': 11.71}, {'connected_gene': 'MIR877', 'score': 11.7}, {'connected_gene': 'RPP21', 'score': 4.85}, {'connected_gene': 'HLA-E', 'score': 0.39}, {'connected_gene': 'LINC02569', 'score': 0.37}]
chr6 GH06I030346 30346032 30346092 0.54 [{'connected_gene': 'RPP21', 'score': 550.77}, {'connected_gene': 'HLA-N', 'score': 0.44}, {'connected_gene': 'TRIM39-RPP21', 'score': 0.37}]
chr6 GH06I030343 30343856 30346001 2.07 [{'connected_gene': 'RPP21', 'score': 550.77}, {'connected_gene': 'TRIM31', 'score': 17.03}, {'connected_gene': 'HCG18', 'score': 15.72}, {'connected_gene': 'HLA-U', 'score': 13.14}, {'connected_gene': 'ZFP57', 'score': 11.0}, {'connected_gene': 'RPL23AP1', 'score': 7.82}, {'connected_gene': 'HLA-C', 'score': 7.44}, {'connected_gene': 'HLA-L', 'score': 6.41}, {'connected_gene': 'PIR56606', 'score': 0.77}, {'connected_gene': 'TRIM39-RPP21', 'score': 0.37}]
chr6 GH06I030907 30907341 30909573 2.15 [{'connected_gene': 'GTF2H4', 'score': 656.5}, {'connected_gene': 'VARS2', 'score': 598.54}, {'connected_gene': 'GC06P031581', 'score': 550.77}, {'connected_gene': 'MDC1', 'score': 131.38}, {'connected_gene': 'DDX39B', 'score': 100.1}, {'connected_gene': 'LY6G5B', 'score': 88.16}, {'connected_gene': 'TRIM39', 'score': 85.52}, {'connected_gene': 'LSM2', 'score': 83.83}, {'connected_gene': 'PPP1R10', 'score': 73.43}, {'connected_gene': 'HCG18', 'score': 73.08}, {'connected_gene': 'PAIP1P1', 'score': 65.24}, {'connected_gene': 'NFKBIL1', 'score': 65.1}, {'connected_gene': 'DHX16', 'score': 59.32}, {'connected_gene': 'ETF1P1', 'score': 57.81}, {'connected_gene': 'MSH5', 'score': 52.98}, {'connected_gene': 'TRIM26', 'score': 52.22}, {'connected_gene': 'ZNRD1', 'score': 43.0}, {'connected_gene': 'ZNRD1ASP', 'score': 42.33}, {'connected_gene': 'CSNK2B', 'score': 42.3}, {'connected_gene': 'ABCF1', 'score': 40.44}, {'connected_gene': 'TCF19', 'score': 33.08}, {'connected_gene': 'HCG4P3', 'score': 32.44}, {'connected_gene': 'NRM', 'score': 29.55}, {'connected_gene': 'MICA', 'score': 28.57}, {'connected_gene': 'HLA-U', 'score': 23.71}, {'connected_gene': 'HLA-W', 'score': 23.36}, {'connected_gene': 'VARS', 'score': 22.86}, {'connected_gene': 'HCG17', 'score': 22.43}, {'connected_gene': 'RPL3P2', 'score': 21.45}, {'connected_gene': 'ATAT1', 'score': 20.44}, {'connected_gene': 'GPANK1', 'score': 20.32}, {'connected_gene': 'HLA-K', 'score': 20.27}, {'connected_gene': 'ENSG00000272540', 'score': 19.95}, {'connected_gene': 'ZBTB12', 'score': 19.94}, {'connected_gene': 'CCHCR1', 'score': 19.55}, {'connected_gene': 'HLA-J', 'score': 18.47}, {'connected_gene': 'GNL1', 'score': 12.74}, {'connected_gene': 'EHMT2', 'score': 12.06}, {'connected_gene': 'PSORS1C2', 'score': 11.9}, {'connected_gene': 'C6orf47', 'score': 11.52}, {'connected_gene': 'SAPCD1', 'score': 11.28}, {'connected_gene': 'RPP21', 'score': 10.93}, {'connected_gene': 'BAG6', 'score': 10.91}, {'connected_gene': 'MICD', 'score': 10.37}, {'connected_gene': 'PRR3', 'score': 10.36}, {'connected_gene': 'HCG4B', 'score': 10.31}, {'connected_gene': 'LTB', 'score': 10.13}, {'connected_gene': 'ATP6V1G2', 'score': 9.8}, {'connected_gene': 'CLIC1', 'score': 9.67}, {'connected_gene': 'DDR1', 'score': 9.52}, {'connected_gene': 'ENSG00000272501', 'score': 5.16}, {'connected_gene': 'ENSG00000252761', 'score': 0.34}]
chr6 GH06I031137 31137402 31138000 1.16 [{'connected_gene': 'PSORS1C2', 'score': 579.15}, {'connected_gene': 'PSORS1C1', 'score': 23.54}, {'connected_gene': 'HCG18', 'score': 16.55}, {'connected_gene': 'HCG27', 'score': 12.09}, {'connected_gene': 'ZBTB12', 'score': 11.97}, {'connected_gene': 'RPP21', 'score': 10.93}, {'connected_gene': 'PRR3', 'score': 10.34}, {'connected_gene': 'GTF2H4', 'score': 9.79}, {'connected_gene': 'DXO', 'score': 9.73}, {'connected_gene': 'HLA-C', 'score': 7.77}, {'connected_gene': 'CDSN', 'score': 0.37}]
chr6 GH06I030746 30746655 30756199 1.77 [{'connected_gene': 'RN7SL353P', 'score': 550.77}, {'connected_gene': 'MDC1', 'score': 59.36}, {'connected_gene': 'IER3', 'score': 50.81}, {'connected_gene': 'GTF2H4', 'score': 34.19}, {'connected_gene': 'PAIP1P1', 'score': 31.55}, {'connected_gene': 'LY6G5B', 'score': 30.67}, {'connected_gene': 'DHX16', 'score': 27.47}, {'connected_gene': 'DDX39B', 'score': 27.14}, {'connected_gene': 'TRIM39', 'score': 26.4}, {'connected_gene': 'PPP1R10', 'score': 25.73}, {'connected_gene': 'HLA-K', 'score': 24.34}, {'connected_gene': 'VARS2', 'score': 23.65}, {'connected_gene': 'ABCF1', 'score': 23.38}, {'connected_gene': 'NRM', 'score': 22.51}, {'connected_gene': 'ZNRD1', 'score': 22.13}, {'connected_gene': 'TCF19', 'score': 21.82}, {'connected_gene': 'HCG4B', 'score': 19.08}, {'connected_gene': 'ETF1P1', 'score': 19.07}, {'connected_gene': 'MICA', 'score': 16.59}, {'connected_gene': 'C6orf136', 'score': 16.51}, {'connected_gene': 'CCHCR1', 'score': 14.05}, {'connected_gene': 'PPP1R18', 'score': 13.44}, {'connected_gene': 'ENSG00000199332', 'score': 12.77}, {'connected_gene': 'LINC00243', 'score': 12.38}, {'connected_gene': 'MSH5', 'score': 12.21}, {'connected_gene': 'ENSG00000272236', 'score': 11.88}, {'connected_gene': 'TUBB', 'score': 11.83}, {'connected_gene': 'DDR1', 'score': 11.62}, {'connected_gene': 'DDR1-AS1', 'score': 11.62}, {'connected_gene': 'HCG18', 'score': 11.31}, {'connected_gene': 'MICA-AS1', 'score': 11.3}, {'connected_gene': 'C6orf47', 'score': 11.24}, {'connected_gene': 'ZNRD1ASP', 'score': 11.08}, {'connected_gene': 'HCG4P7', 'score': 11.06}, {'connected_gene': 'HLA-U', 'score': 10.7}, {'connected_gene': 'RPL3P2', 'score': 10.63}, {'connected_gene': 'NFKBIL1', 'score': 10.2}, {'connected_gene': 'CSNK2B', 'score': 10.02}, {'connected_gene': 'HCG21', 'score': 9.68}, {'connected_gene': 'HLA-C', 'score': 9.43}, {'connected_gene': 'DPCR1', 'score': 9.4}, {'connected_gene': 'HCG4', 'score': 8.1}, {'connected_gene': 'HCG20', 'score': 6.85}, {'connected_gene': 'HLA-A', 'score': 6.25}, {'connected_gene': 'HLA-E', 'score': 5.81}, {'connected_gene': 'HLA-J', 'score': 5.57}, {'connected_gene': 'MICB', 'score': 5.5}, {'connected_gene': 'PSORS1C2', 'score': 5.44}, {'connected_gene': 'HLA-L', 'score': 4.97}, {'connected_gene': 'HLA-G', 'score': 3.92}, {'connected_gene': 'RPP21', 'score': 2.26}, {'connected_gene': 'FLOT1', 'score': 2.23}, {'connected_gene': 'SFTA2', 'score': 2.11}, {'connected_gene': 'TRIM39-RPP21', 'score': 2.0}, {'connected_gene': 'PSORS1C1', 'score': 1.74}]
chr6 GH06I030162 30162370 30165161 1.51 [{'connected_gene': 'TRIM10', 'score': 550.77}, {'connected_gene': 'TRIM15', 'score': 550.77}, {'connected_gene': 'MDC1', 'score': 161.69}, {'connected_gene': 'GTF2H4', 'score': 119.37}, {'connected_gene': 'HCG18', 'score': 107.07}, {'connected_gene': 'ZNRD1ASP', 'score': 96.85}, {'connected_gene': 'PPP1R10', 'score': 73.27}, {'connected_gene': 'TRIM39', 'score': 72.64}, {'connected_gene': 'ETF1P1', 'score': 63.36}, {'connected_gene': 'PAIP1P1', 'score': 60.79}, {'connected_gene': 'DHX16', 'score': 58.05}, {'connected_gene': 'HLA-U', 'score': 53.35}, {'connected_gene': 'HCG4P7', 'score': 48.03}, {'connected_gene': 'TRIM26', 'score': 43.7}, {'connected_gene': 'TCF19', 'score': 42.07}, {'connected_gene': 'CCHCR1', 'score': 41.89}, {'connected_gene': 'ATAT1', 'score': 37.59}, {'connected_gene': 'HLA-H', 'score': 31.17}, {'connected_gene': 'GNL1', 'score': 31.11}, {'connected_gene': 'ABCF1', 'score': 30.18}, {'connected_gene': 'ZNRD1', 'score': 29.88}, {'connected_gene': 'HLA-F-AS1', 'score': 24.83}, {'connected_gene': 'HLA-K', 'score': 24.72}, {'connected_gene': 'HCG17', 'score': 23.42}, {'connected_gene': 'MICD', 'score': 23.0}, {'connected_gene': 'MICE', 'score': 21.61}, {'connected_gene': 'PRR3', 'score': 20.88}, {'connected_gene': 'ENSG00000272540', 'score': 20.38}, {'connected_gene': 'HLA-W', 'score': 13.4}, {'connected_gene': 'NRM', 'score': 12.52}, {'connected_gene': 'TRIM31', 'score': 11.96}, {'connected_gene': 'TRIM31-AS1', 'score': 11.95}, {'connected_gene': 'HCG9P5', 'score': 11.55}, {'connected_gene': 'GABBR1', 'score': 11.09}, {'connected_gene': 'RPP21', 'score': 10.99}, {'connected_gene': 'HCG4P3', 'score': 10.61}, {'connected_gene': 'HLA-J', 'score': 10.42}, {'connected_gene': 'SUMO2P1', 'score': 9.66}, {'connected_gene': 'RPL23AP1', 'score': 6.08}, {'connected_gene': 'TRIM40', 'score': 4.51}]

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