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
ENST00000280665 [[2055219, 2055452], [2058251, 2058500], [2061581, 2062454], [2064597, 2064726], [2074723, 2074859], [2077009, 2077076], [2102429, 2102557], [2107100, 2107141], [2113447, 2113677]] [[2055371, 2055452], [2058251, 2058500], [2061581, 2062454], [2064597, 2064726], [2074723, 2074859], [2077009, 2077076], [2102429, 2102557], [2107100, 2107141], [2113447, 2113597]]
ENST00000397173 [[2055317, 2055452], [2058251, 2058500], [2061581, 2062454], [2064597, 2064726], [2074723, 2074859], [2077009, 2077076], [2100286, 2100412], [2102429, 2102557], [2107100, 2107141], [2113447, 2113636]] [[2055371, 2055452], [2058251, 2058500], [2061581, 2062454], [2064597, 2064726], [2074723, 2074859], [2077009, 2077076], [2100286, 2100299]]
ENST00000543381 [[2055317, 2055452], [2058251, 2058500], [2061581, 2062454], [2064597, 2064726], [2074723, 2074859], [2077009, 2077076], [2100286, 2100412], [2102429, 2102557], [2107100, 2107141], [2113447, 2113636]] [[2100371, 2100412], [2102429, 2102557], [2107100, 2107141], [2113447, 2113597]]
ENST00000541700 [[2061942, 2062454], [2102429, 2102557], [2107100, 2107141], [2113366, 2113633]] None
ENST00000537725 [[2070481, 2070561], [2074723, 2074859], [2077009, 2077076], [2102429, 2102557], [2107100, 2107141], [2113447, 2113593]] None
ENST00000540622 [[2059201, 2059543], [2061581, 2062454], [2064597, 2064726], [2074723, 2074859], [2077009, 2077076]] [[2059516, 2059543], [2061581, 2062454], [2064597, 2064726], [2074723, 2074859], [2077009, 2077017]]
ENST00000536665 [[2061942, 2062454], [2064597, 2064726], [2074723, 2074859], [2075245, 2075307]] None
ENST00000535873 [[2101659, 2102557], [2107100, 2107141], [2113447, 2113701]] None
NR_135060 [[2050756, 2050957], [2055317, 2055452], [2058251, 2058500], [2061581, 2062454], [2064597, 2064726], [2074723, 2074859], [2077009, 2077076], [2100286, 2100412], [2102429, 2102557], [2107100, 2107141], [2113447, 2113701]] None
NM_152640 [[2055213, 2055452], [2058251, 2058500], [2061581, 2062454], [2064597, 2064726], [2074723, 2074859], [2077009, 2077076], [2102429, 2102557], [2107100, 2107141], [2113447, 2113701]] [[2055371, 2055452], [2058251, 2058500], [2061581, 2062454], [2064597, 2064726], [2074723, 2074859], [2077009, 2077076], [2102429, 2102557], [2107100, 2107141], [2113447, 2113597]]
NM_001319292 [[2100621, 2102557], [2107100, 2107141], [2113447, 2113701]] [[2102286, 2102557], [2107100, 2107141], [2113447, 2113597]]
Promoter
Chrom Start End Description
chr12 2113583 2113658 CAGE_peak_1_at_DCP1B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I001574 1574631 1577889 1.33 [{'connected_gene': 'WNT5B', 'score': 12.05}, {'connected_gene': 'DCP1B', 'score': 10.84}, {'connected_gene': 'ENSG00000249028', 'score': 10.44}, {'connected_gene': 'PIR54620', 'score': 0.37}, {'connected_gene': 'GC12M001593', 'score': 0.37}, {'connected_gene': 'PIR54397', 'score': 0.37}, {'connected_gene': 'FBXL14', 'score': 0.37}]
chr12 GH12I001715 1715474 1719938 0.64 [{'connected_gene': 'ADIPOR2', 'score': 17.31}, {'connected_gene': 'RAD52', 'score': 13.21}, {'connected_gene': 'DCP1B', 'score': 11.58}, {'connected_gene': 'CACNA2D4', 'score': 8.69}, {'connected_gene': 'LOC100533654', 'score': 0.37}, {'connected_gene': 'GC12M001758', 'score': 0.26}]
chr12 GH12I001689 1689864 1692665 2.24 [{'connected_gene': 'ADIPOR2', 'score': 550.77}, {'connected_gene': 'DCP1B', 'score': 11.59}, {'connected_gene': 'CACNA2D4', 'score': 4.55}, {'connected_gene': 'LOC100533654', 'score': 0.44}]
chr12 GH12I002889 2889587 2893744 2.25 [{'connected_gene': 'TULP3', 'score': 588.96}, {'connected_gene': 'RHNO1', 'score': 23.55}, {'connected_gene': 'NRIP2', 'score': 11.93}, {'connected_gene': 'ITFG2', 'score': 10.77}, {'connected_gene': 'DCP1B', 'score': 10.73}, {'connected_gene': 'PIR60635', 'score': 0.77}, {'connected_gene': 'GC12M002940', 'score': 0.25}]
chr12 GH12I002876 2876014 2879331 2.03 [{'connected_gene': 'TULP3', 'score': 591.91}, {'connected_gene': 'RHNO1', 'score': 574.57}, {'connected_gene': 'FOXM1', 'score': 550.77}, {'connected_gene': 'ITFG2', 'score': 64.04}, {'connected_gene': 'DCP1B', 'score': 29.18}, {'connected_gene': 'CBX3P4', 'score': 28.2}, {'connected_gene': 'ITFG2-AS1', 'score': 13.03}, {'connected_gene': 'NRIP2', 'score': 10.72}, {'connected_gene': 'RPS27P3', 'score': 10.71}, {'connected_gene': 'IQSEC3P1', 'score': 10.6}, {'connected_gene': 'FKBP4', 'score': 10.03}, {'connected_gene': 'GC12M002869', 'score': 0.77}]
chr12 GH12I002957 2957959 2962091 2.2 [{'connected_gene': 'TEAD4', 'score': 550.77}, {'connected_gene': 'ITFG2', 'score': 22.4}, {'connected_gene': 'DCP1B', 'score': 20.05}, {'connected_gene': 'TULP3', 'score': 7.14}, {'connected_gene': 'GC12P002971', 'score': 0.44}]
chr12 GH12I002794 2794051 2797078 2.02 [{'connected_gene': 'FKBP4', 'score': 550.77}, {'connected_gene': 'CBX3P4', 'score': 550.77}, {'connected_gene': 'ITFG2', 'score': 16.16}, {'connected_gene': 'TULP3', 'score': 12.45}, {'connected_gene': 'DCP1B', 'score': 11.54}, {'connected_gene': 'ENSG00000258092', 'score': 0.44}, {'connected_gene': 'ENSG00000256150', 'score': 0.37}]
chr12 GH12I001202 1202861 1206212 1.14 [{'connected_gene': 'RAD52', 'score': 51.03}, {'connected_gene': 'CCDC77', 'score': 25.02}, {'connected_gene': 'ENSG00000261799', 'score': 23.11}, {'connected_gene': 'DCP1B', 'score': 22.63}, {'connected_gene': 'ERC1', 'score': 13.01}, {'connected_gene': 'KDM5A', 'score': 9.86}, {'connected_gene': 'ENSG00000249028', 'score': 7.81}, {'connected_gene': 'GC12P001195', 'score': 0.44}, {'connected_gene': 'GC12M001280', 'score': 0.18}]
chr12 GH12I001562 1562276 1564708 0.67 [{'connected_gene': 'RAD52', 'score': 41.47}, {'connected_gene': 'DCP1B', 'score': 27.95}, {'connected_gene': 'ENSG00000250132', 'score': 19.65}, {'connected_gene': 'WNT5B', 'score': 11.71}, {'connected_gene': 'ERC1', 'score': 9.81}, {'connected_gene': 'ENSG00000249028', 'score': 9.81}, {'connected_gene': 'FBXL14', 'score': 5.86}, {'connected_gene': 'PIR54620', 'score': 0.77}, {'connected_gene': 'PIR54397', 'score': 0.31}, {'connected_gene': 'GC12M001593', 'score': 0.31}]
chr12 GH12I001604 1604397 1607182 1.51 [{'connected_gene': 'RAD52', 'score': 63.23}, {'connected_gene': 'DCP1B', 'score': 47.61}, {'connected_gene': 'ENSG00000250132', 'score': 24.58}, {'connected_gene': 'WNT5B', 'score': 10.94}, {'connected_gene': 'LINC00942', 'score': 9.86}, {'connected_gene': 'ERC1', 'score': 9.62}, {'connected_gene': 'FBXL14', 'score': 0.39}, {'connected_gene': 'MIR3649', 'score': 0.23}]
chr12 GH12I001196 1196471 1198885 0.59 [{'connected_gene': 'RAD52', 'score': 13.26}, {'connected_gene': 'DCP1B', 'score': 11.54}, {'connected_gene': 'ENSG00000249028', 'score': 7.81}, {'connected_gene': 'GC12P001195', 'score': 0.77}, {'connected_gene': 'GC12M001280', 'score': 0.18}, {'connected_gene': 'ERC1', 'score': 0.08}]
chr12 GH12I001721 1721227 1723999 0.52 [{'connected_gene': 'RAD52', 'score': 13.21}, {'connected_gene': 'DCP1B', 'score': 11.58}, {'connected_gene': 'LOC100533654', 'score': 0.34}, {'connected_gene': 'ADIPOR2', 'score': 0.29}, {'connected_gene': 'GC12M001758', 'score': 0.28}]
chr12 GH12I001924 1924396 1925224 1.17 [{'connected_gene': 'ITFG2', 'score': 113.85}, {'connected_gene': 'TULP3', 'score': 111.72}, {'connected_gene': 'RAD52', 'score': 108.68}, {'connected_gene': 'DCP1B', 'score': 49.33}, {'connected_gene': 'CBX3P4', 'score': 26.62}, {'connected_gene': 'ENSG00000250132', 'score': 14.98}, {'connected_gene': 'ITFG2-AS1', 'score': 12.92}, {'connected_gene': 'LRTM2', 'score': 12.05}, {'connected_gene': 'IQSEC3P1', 'score': 10.49}, {'connected_gene': 'ERC1', 'score': 10.38}, {'connected_gene': 'CACNA2D4', 'score': 0.77}, {'connected_gene': 'GC12M001928', 'score': 0.44}]
chr12 GH12I002063 2063840 2064775 0.94 [{'connected_gene': 'ITFG2', 'score': 17.36}, {'connected_gene': 'TULP3', 'score': 12.47}, {'connected_gene': 'DCP1B', 'score': 10.53}, {'connected_gene': 'GC12M002062', 'score': 0.39}, {'connected_gene': 'CACNA1C-IT2', 'score': 0.37}, {'connected_gene': 'CACNA1C', 'score': 0.16}]
chr12 GH12I002256 2255908 2257488 1.11 [{'connected_gene': 'ITFG2', 'score': 147.55}, {'connected_gene': 'TULP3', 'score': 136.64}, {'connected_gene': 'DCP1B', 'score': 84.73}, {'connected_gene': 'CBX3P4', 'score': 72.41}, {'connected_gene': 'IQSEC3P1', 'score': 28.9}, {'connected_gene': 'RPS27P3', 'score': 19.52}, {'connected_gene': 'ITFG2-AS1', 'score': 12.92}, {'connected_gene': 'CACNA1C-AS4', 'score': 11.91}, {'connected_gene': 'NRIP2', 'score': 9.86}, {'connected_gene': 'LINC00942', 'score': 9.75}, {'connected_gene': 'CACNA1C-IT3', 'score': 7.18}, {'connected_gene': 'PIR46918', 'score': 0.77}, {'connected_gene': 'CACNA1C', 'score': 0.06}]
chr12 GH12I002811 2811661 2814613 2.12 [{'connected_gene': 'ITFG2', 'score': 573.35}, {'connected_gene': 'ENSG00000256150', 'score': 550.77}, {'connected_gene': 'DCP1B', 'score': 30.78}, {'connected_gene': 'TULP3', 'score': 24.74}, {'connected_gene': 'NRIP2', 'score': 14.88}, {'connected_gene': 'CBX3P4', 'score': 11.75}, {'connected_gene': 'IQSEC3P1', 'score': 10.95}]
chr12 GH12I002030 2030321 2034211 0.38 [{'connected_gene': 'ITFG2', 'score': 12.12}, {'connected_gene': 'ENSG00000203593', 'score': 11.36}, {'connected_gene': 'DCP1B', 'score': 11.36}, {'connected_gene': 'CACNA1C-AS4', 'score': 10.43}, {'connected_gene': 'CACNA1C-IT1', 'score': 0.39}, {'connected_gene': 'CACNA1C-IT2', 'score': 0.37}, {'connected_gene': 'CACNA1C', 'score': 0.21}]
chr12 GH12I001980 1980687 1982077 0.38 [{'connected_gene': 'DCP1B', 'score': 17.83}, {'connected_gene': 'ENSG00000203593', 'score': 12.65}, {'connected_gene': 'GC12M001963', 'score': 0.77}, {'connected_gene': 'GC12M001936', 'score': 0.44}, {'connected_gene': 'CACNA1C', 'score': 0.39}]
chr12 GH12I001054 1054091 1055296 0.78 [{'connected_gene': 'DCP1B', 'score': 10.82}, {'connected_gene': 'KDM5A', 'score': 9.86}, {'connected_gene': 'ENSG00000250132', 'score': 8.27}, {'connected_gene': 'ERC1', 'score': 5.35}, {'connected_gene': 'LOC574538', 'score': 5.23}, {'connected_gene': 'GC12P001011', 'score': 0.26}, {'connected_gene': 'HTR1DP1', 'score': 0.15}]
chr12 GH12I002003 2003213 2005301 2.29 [{'connected_gene': 'DCP1B', 'score': 565.2}, {'connected_gene': 'ENSG00000203593', 'score': 563.87}, {'connected_gene': 'ITFG2', 'score': 25.08}, {'connected_gene': 'CBX3P4', 'score': 11.41}, {'connected_gene': 'IQSEC3P1', 'score': 10.76}, {'connected_gene': 'NRIP2', 'score': 9.98}, {'connected_gene': 'GC12M001963', 'score': 0.37}, {'connected_gene': 'CACNA1C', 'score': 0.29}]
chr12 GH12I001960 1960425 1964022 0.43 [{'connected_gene': 'DCP1B', 'score': 16.46}, {'connected_gene': 'ENSG00000203593', 'score': 16.22}, {'connected_gene': 'LINC00940', 'score': 6.74}, {'connected_gene': 'GC12M001934', 'score': 0.44}, {'connected_gene': 'GC12M001935', 'score': 0.44}, {'connected_gene': 'CACNA1C', 'score': 0.44}, {'connected_gene': 'GC12M001936', 'score': 0.39}, {'connected_gene': 'GC12M001963', 'score': 0.34}]
chr12 GH12I001946 1946209 1947970 0.66 [{'connected_gene': 'DCP1B', 'score': 12.08}, {'connected_gene': 'ENSG00000203593', 'score': 6.6}, {'connected_gene': 'LINC00940', 'score': 0.39}, {'connected_gene': 'GC12M001935', 'score': 0.34}, {'connected_gene': 'CACNA1C', 'score': 0.34}, {'connected_gene': 'GC12M001934', 'score': 0.34}, {'connected_gene': 'GC12M001936', 'score': 0.31}]
chr12 GH12I001949 1948071 1948335 0.4 [{'connected_gene': 'DCP1B', 'score': 12.08}, {'connected_gene': 'ENSG00000203593', 'score': 7.62}, {'connected_gene': 'LINC00940', 'score': 0.39}, {'connected_gene': 'GC12M001935', 'score': 0.34}, {'connected_gene': 'CACNA1C', 'score': 0.34}, {'connected_gene': 'GC12M001936', 'score': 0.34}, {'connected_gene': 'GC12M001934', 'score': 0.34}]
chr12 GH12I001948 1948955 1950875 0.77 [{'connected_gene': 'DCP1B', 'score': 17.28}, {'connected_gene': 'ENSG00000203593', 'score': 11.62}, {'connected_gene': 'LINC00940', 'score': 0.39}, {'connected_gene': 'GC12M001935', 'score': 0.34}, {'connected_gene': 'CACNA1C', 'score': 0.34}, {'connected_gene': 'GC12M001936', 'score': 0.34}, {'connected_gene': 'GC12M001934', 'score': 0.34}]
chr12 GH12I002016 2016720 2018800 0.78 [{'connected_gene': 'CACNA1C-IT1', 'score': 550.77}, {'connected_gene': 'ENSG00000203593', 'score': 9.07}, {'connected_gene': 'ENSG00000258092', 'score': 5.46}, {'connected_gene': 'DCP1B', 'score': 5.02}, {'connected_gene': 'CACNA1C', 'score': 0.25}]
chr12 GH12I001992 1992780 1995963 1.57 [{'connected_gene': 'CBX3P4', 'score': 17.76}, {'connected_gene': 'ITFG2-AS1', 'score': 15.56}, {'connected_gene': 'LINC00942', 'score': 13.61}, {'connected_gene': 'TULP3', 'score': 12.59}, {'connected_gene': 'ITFG2', 'score': 12.5}, {'connected_gene': 'IQSEC3P1', 'score': 10.17}, {'connected_gene': 'DCP1B', 'score': 5.82}, {'connected_gene': 'FBXL14', 'score': 2.56}, {'connected_gene': 'GC12M001963', 'score': 0.44}, {'connected_gene': 'CACNA1C', 'score': 0.34}]
chr12 GH12I001658 1658632 1663939 1.8 [{'connected_gene': 'MIR3649', 'score': 550.77}, {'connected_gene': 'RAD52', 'score': 47.56}, {'connected_gene': 'ADIPOR2', 'score': 19.28}, {'connected_gene': 'DCP1B', 'score': 19.11}, {'connected_gene': 'ENSG00000256706', 'score': 11.09}, {'connected_gene': 'CACNA2D4', 'score': 11.09}, {'connected_gene': 'LRTM2', 'score': 3.4}, {'connected_gene': 'CACNA1C', 'score': 2.19}]
chr12 GH12I001972 1972028 1973400 1.04 [{'connected_gene': 'GC12P001971', 'score': 550.77}, {'connected_gene': 'GC12M001934', 'score': 550.77}, {'connected_gene': 'GC12M001935', 'score': 550.77}, {'connected_gene': 'CACNA1C', 'score': 550.77}, {'connected_gene': 'GC12M001936', 'score': 550.77}, {'connected_gene': 'TULP3', 'score': 13.5}, {'connected_gene': 'ITFG2', 'score': 12.33}, {'connected_gene': 'DCP1B', 'score': 11.17}, {'connected_gene': 'ENSG00000203593', 'score': 11.17}, {'connected_gene': 'RAD52', 'score': 11.03}, {'connected_gene': 'GC12M001963', 'score': 0.39}]
chr12 GH12I001970 1970129 1971840 0.31 [{'connected_gene': 'GC12P001971', 'score': 550.77}, {'connected_gene': 'GC12M001934', 'score': 550.77}, {'connected_gene': 'GC12M001935', 'score': 550.77}, {'connected_gene': 'CACNA1C', 'score': 550.77}, {'connected_gene': 'GC12M001936', 'score': 550.77}, {'connected_gene': 'ENSG00000203593', 'score': 10.97}, {'connected_gene': 'DCP1B', 'score': 5.48}, {'connected_gene': 'GC12M001963', 'score': 0.39}]
chr12 GH12I001908 1908001 1908200 0.49 [{'connected_gene': 'ENSG00000203593', 'score': 10.32}, {'connected_gene': 'DCP1B', 'score': 10.32}, {'connected_gene': 'GC12P001912', 'score': 0.77}, {'connected_gene': 'CACNA2D4', 'score': 0.39}, {'connected_gene': 'LAMP1P1', 'score': 0.26}]
chr12 GH12I001911 1911332 1912311 0.43 [{'connected_gene': 'GC12P001910', 'score': 550.77}, {'connected_gene': 'GC12P001912', 'score': 550.77}, {'connected_gene': 'GC12P001911', 'score': 550.77}, {'connected_gene': 'ENSG00000203593', 'score': 10.32}, {'connected_gene': 'DCP1B', 'score': 10.32}, {'connected_gene': 'CACNA2D4', 'score': 0.44}, {'connected_gene': 'ENSG00000256706', 'score': 0.44}]
chr12 GH12I001966 1966482 1967575 0.31 [{'connected_gene': 'ENSG00000203593', 'score': 19.0}, {'connected_gene': 'DCP1B', 'score': 11.12}, {'connected_gene': 'GC12M001934', 'score': 0.77}, {'connected_gene': 'GC12M001935', 'score': 0.77}, {'connected_gene': 'CACNA1C', 'score': 0.77}, {'connected_gene': 'GC12M001936', 'score': 0.44}, {'connected_gene': 'GC12M001963', 'score': 0.37}, {'connected_gene': 'LINC00940', 'score': 0.29}]
chr12 GH12I001977 1977961 1978425 0.2 [{'connected_gene': 'ENSG00000203593', 'score': 12.62}, {'connected_gene': 'DCP1B', 'score': 12.62}, {'connected_gene': 'CACNA1C', 'score': 0.44}, {'connected_gene': 'GC12M001963', 'score': 0.44}, {'connected_gene': 'GC12M001936', 'score': 0.44}]
chr12 GH12I001985 1985994 1987407 0.2 [{'connected_gene': 'GC12M001963', 'score': 550.77}, {'connected_gene': 'DCP1B', 'score': 5.78}, {'connected_gene': 'CACNA1C', 'score': 0.37}]
chr12 GH12I001975 1975406 1977609 0.2 [{'connected_gene': 'ENSG00000203593', 'score': 21.48}, {'connected_gene': 'DCP1B', 'score': 16.72}, {'connected_gene': 'GC12M001936', 'score': 0.77}, {'connected_gene': 'CACNA1C', 'score': 0.44}, {'connected_gene': 'GC12M001963', 'score': 0.44}]
chr12 GH12I001973 1973766 1974905 0.2 [{'connected_gene': 'GC12M001936', 'score': 550.77}, {'connected_gene': 'DCP1B', 'score': 16.58}, {'connected_gene': 'ENSG00000203593', 'score': 11.4}, {'connected_gene': 'CACNA1C', 'score': 0.77}, {'connected_gene': 'GC12M001963', 'score': 0.39}]
chr12 GH12I002001 2001495 2002237 0.31 [{'connected_gene': 'ENSG00000203593', 'score': 14.21}, {'connected_gene': 'DCP1B', 'score': 0.77}, {'connected_gene': 'GC12M001963', 'score': 0.37}, {'connected_gene': 'CACNA1C', 'score': 0.29}]
chr12 GH12I002029 2029540 2030178 0.2 [{'connected_gene': 'ENSG00000203593', 'score': 11.83}, {'connected_gene': 'DCP1B', 'score': 11.83}, {'connected_gene': 'CACNA1C-IT1', 'score': 0.39}, {'connected_gene': 'CACNA1C-IT2', 'score': 0.37}, {'connected_gene': 'CACNA1C', 'score': 0.22}]
chr12 GH12I002065 2065937 2067982 0.43 [{'connected_gene': 'ENSG00000203593', 'score': 10.81}, {'connected_gene': 'DCP1B', 'score': 10.81}, {'connected_gene': 'CACNA1C-AS4', 'score': 10.6}, {'connected_gene': 'GC12M002062', 'score': 0.39}, {'connected_gene': 'CACNA1C-IT2', 'score': 0.37}, {'connected_gene': 'CACNA1C', 'score': 0.15}]
chr12 GH12I001589 1589739 1597079 2.52 [{'connected_gene': 'GC12M001593', 'score': 550.77}, {'connected_gene': 'PIR54397', 'score': 550.77}, {'connected_gene': 'FBXL14', 'score': 550.77}, {'connected_gene': 'WNT5B', 'score': 11.8}, {'connected_gene': 'RAD52', 'score': 11.55}, {'connected_gene': 'DCP1B', 'score': 10.85}]

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