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
ENST00000513116 [[26210671, 26212360], [26219004, 26219098]] None
ENST00000426559 [[26211930, 26212360], [26227981, 26228173], [26230131, 26230304], [26231154, 26231229], [26232879, 26232957]] [[26212213, 26212360], [26227981, 26228173], [26230131, 26230304], [26231154, 26231167]]
ENST00000455785 [[26226592, 26227578], [26227981, 26228173], [26230131, 26230304], [26231154, 26231229], [26232879, 26232957]] [[26227506, 26227578], [26227981, 26228173], [26230131, 26230304], [26231154, 26231167]]
ENST00000399728 [[26226608, 26227578], [26227981, 26228173], [26230131, 26230304], [26231154, 26231229], [26232342, 26232644]] [[26227506, 26227578], [26227981, 26228173], [26230131, 26230304], [26231154, 26231167]]
ENST00000465604 [[26227058, 26227578], [26227981, 26230304], [26231154, 26231229], [26232879, 26232908]] None
ENST00000357865 [[26227085, 26227578], [26227981, 26228173], [26230131, 26230304], [26231154, 26231229], [26233278, 26233482]] [[26227506, 26227578], [26227981, 26228173], [26230131, 26230304], [26231154, 26231167]]
ENST00000374291 [[26227231, 26227578], [26227981, 26228173], [26230131, 26230304], [26231154, 26231229], [26231539, 26231619]] [[26227506, 26227578], [26227981, 26228173], [26230131, 26230304], [26231154, 26231167]]
ENST00000485226 [[26227897, 26228173], [26230131, 26230304]] None
ENST00000446334 [[26228102, 26228173], [26230131, 26230304], [26231154, 26231229], [26231634, 26231980]] [[26228102, 26228173], [26230131, 26230304], [26231154, 26231167]]
NM_001145454 [[26210676, 26212360], [26227981, 26228173], [26230131, 26230304], [26231154, 26231229], [26232879, 26232993]] [[26212213, 26212360], [26227981, 26228173], [26230131, 26230304], [26231154, 26231167]]
NM_203401 [[26226606, 26227578], [26227981, 26228173], [26230131, 26230304], [26231154, 26231229], [26232342, 26232644]] [[26227506, 26227578], [26227981, 26228173], [26230131, 26230304], [26231154, 26231167]]
NM_005563 [[26226606, 26227578], [26227981, 26228173], [26230131, 26230304], [26231154, 26231229], [26232879, 26232993]] [[26227506, 26227578], [26227981, 26228173], [26230131, 26230304], [26231154, 26231167]]
NM_203399 [[26226606, 26227578], [26227981, 26228173], [26230131, 26230304], [26231154, 26231229], [26233278, 26233368]] [[26227506, 26227578], [26227981, 26228173], [26230131, 26230304], [26231154, 26231167]]
Promoter
Chrom Start End Description
chr1 26219059 26219082 CAGE_peak_10_at_STMN1_5end
chr1 26230201 26230223 CAGE_peak_5_at_STMN1_5end
chr1 26230247 26230298 CAGE_peak_4_at_STMN1_5end
chr1 26231214 26231239 CAGE_peak_3_at_STMN1_5end
chr1 26231589 26231635 CAGE_peak_8_at_STMN1_5end
chr1 26232453 26232521 CAGE_peak_6_at_STMN1_5end
chr1 26232522 26232541 CAGE_peak_9_at_STMN1_5end
chr1 26232902 26232918 CAGE_peak_1_at_STMN1_5end
chr1 26232951 26232959 CAGE_peak_2_at_STMN1_5end
chr1 26233350 26233376 CAGE_peak_12_at_STMN1_5end
chr1 26233390 26233404 CAGE_peak_21_at_STMN1_5end
chr1 26233423 26233427 CAGE_peak_26_at_STMN1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I026121 26121368 26129096 1.77 [{'connected_gene': 'ARID1A', 'score': 80.27}, {'connected_gene': 'HMGN2', 'score': 65.22}, {'connected_gene': 'LOC101928324', 'score': 53.24}, {'connected_gene': 'ENSG00000261349', 'score': 41.21}, {'connected_gene': 'TRIM63', 'score': 37.76}, {'connected_gene': 'SYF2', 'score': 32.28}, {'connected_gene': 'GPN2', 'score': 30.56}, {'connected_gene': 'ZNF593', 'score': 29.32}, {'connected_gene': 'LOC101928728', 'score': 23.9}, {'connected_gene': 'RPL17P9', 'score': 21.54}, {'connected_gene': 'FAM110D', 'score': 12.58}, {'connected_gene': 'PDIK1L', 'score': 11.67}, {'connected_gene': 'GPATCH3', 'score': 11.42}, {'connected_gene': 'ENSG00000236782', 'score': 11.31}, {'connected_gene': 'SLC30A2', 'score': 10.69}, {'connected_gene': 'PIGV', 'score': 10.45}, {'connected_gene': 'EXTL1', 'score': 10.14}, {'connected_gene': 'STMN1', 'score': 9.99}, {'connected_gene': 'CNKSR1', 'score': 6.54}, {'connected_gene': 'UBXN11', 'score': 4.33}, {'connected_gene': 'PAFAH2', 'score': 4.26}, {'connected_gene': 'CD52', 'score': 3.47}, {'connected_gene': 'RPS6KA1', 'score': 2.87}, {'connected_gene': 'CEP85', 'score': 2.12}, {'connected_gene': 'MTFR1L', 'score': 1.28}, {'connected_gene': 'LOC105376886', 'score': 0.77}]
chr1 GH01I026898 26898826 26901275 2.08 [{'connected_gene': 'GPATCH3', 'score': 550.77}, {'connected_gene': 'NUDC', 'score': 550.77}, {'connected_gene': 'ARID1A', 'score': 25.64}, {'connected_gene': 'HMGN2', 'score': 24.31}, {'connected_gene': 'ACTG1P20', 'score': 15.43}, {'connected_gene': 'PIGV', 'score': 13.66}, {'connected_gene': 'ZNF593', 'score': 13.55}, {'connected_gene': 'FAM76A', 'score': 13.09}, {'connected_gene': 'NPM1P39', 'score': 11.5}, {'connected_gene': 'MAP3K6', 'score': 10.99}, {'connected_gene': 'SH3BGRL3', 'score': 10.49}, {'connected_gene': 'WASF2', 'score': 10.4}, {'connected_gene': 'ENSG00000231344', 'score': 10.35}, {'connected_gene': 'RPS6KA1', 'score': 9.97}, {'connected_gene': 'STMN1', 'score': 9.93}, {'connected_gene': 'PIR54437', 'score': 0.77}]
chr1 GH01I025888 25888626 25896640 1.42 [{'connected_gene': 'SELENON', 'score': 48.55}, {'connected_gene': 'MTFR1L', 'score': 30.92}, {'connected_gene': 'ARID1A', 'score': 13.05}, {'connected_gene': 'PAFAH2', 'score': 12.6}, {'connected_gene': 'ENSG00000252190', 'score': 11.66}, {'connected_gene': 'ENSG00000252691', 'score': 11.66}, {'connected_gene': 'EXTL1', 'score': 11.23}, {'connected_gene': 'RNU6-110P', 'score': 10.89}, {'connected_gene': 'SLC30A2', 'score': 10.71}, {'connected_gene': 'TRIM63', 'score': 10.32}, {'connected_gene': 'HMGN2', 'score': 9.8}, {'connected_gene': 'PAQR7', 'score': 7.18}, {'connected_gene': 'RPL39P7', 'score': 0.77}, {'connected_gene': 'PIR46219', 'score': 0.39}, {'connected_gene': 'STMN1', 'score': 0.39}]
chr1 GH01I025870 25870283 25876907 1.76 [{'connected_gene': 'MTFR1L', 'score': 36.97}, {'connected_gene': 'SELENON', 'score': 10.38}, {'connected_gene': 'STMN1', 'score': 10.2}, {'connected_gene': 'CNKSR1', 'score': 5.15}, {'connected_gene': 'PAQR7', 'score': 0.77}, {'connected_gene': 'ENSG00000236528', 'score': 0.39}]
chr1 GH01I025897 25897344 25901814 0.64 [{'connected_gene': 'MTFR1L', 'score': 26.96}, {'connected_gene': 'SELENON', 'score': 11.96}, {'connected_gene': 'PAQR7', 'score': 11.95}, {'connected_gene': 'ENSG00000207302', 'score': 11.95}, {'connected_gene': 'PAFAH2', 'score': 11.88}, {'connected_gene': 'RNU6-110P', 'score': 10.87}, {'connected_gene': 'EXTL1', 'score': 10.83}, {'connected_gene': 'ENSG00000233478', 'score': 9.44}, {'connected_gene': 'PIR46219', 'score': 0.44}, {'connected_gene': 'STMN1', 'score': 0.44}, {'connected_gene': 'RPL39P7', 'score': 0.39}]
chr1 GH01I025867 25867003 25868814 0.92 [{'connected_gene': 'MTFR1L', 'score': 41.08}, {'connected_gene': 'EXTL1', 'score': 10.84}, {'connected_gene': 'STMN1', 'score': 10.75}, {'connected_gene': 'ENSG00000252190', 'score': 10.6}, {'connected_gene': 'ENSG00000252691', 'score': 10.6}, {'connected_gene': 'RNU6-110P', 'score': 10.0}, {'connected_gene': 'ENSG00000236528', 'score': 0.44}, {'connected_gene': 'PAQR7', 'score': 0.44}]
chr1 GH01I025922 25922051 25924017 1.52 [{'connected_gene': 'MTFR1L', 'score': 24.64}, {'connected_gene': 'EXTL1', 'score': 2.73}, {'connected_gene': 'STMN1', 'score': 2.18}, {'connected_gene': 'GC01P025966', 'score': 0.26}]
chr1 GH01I025932 25932854 25934751 0.97 [{'connected_gene': 'MTFR1L', 'score': 15.59}, {'connected_gene': 'RNU6-110P', 'score': 12.42}, {'connected_gene': 'STMN1', 'score': 11.34}, {'connected_gene': 'ENSG00000252190', 'score': 11.1}, {'connected_gene': 'ENSG00000252691', 'score': 11.1}, {'connected_gene': 'EXTL1', 'score': 10.93}, {'connected_gene': 'TRIM63', 'score': 10.14}, {'connected_gene': 'FAM110D', 'score': 9.89}, {'connected_gene': 'SELENON', 'score': 4.49}, {'connected_gene': 'GC01P025966', 'score': 0.29}]
chr1 GH01I025911 25911628 25913342 0.94 [{'connected_gene': 'MTFR1L', 'score': 28.05}, {'connected_gene': 'RNU6-110P', 'score': 11.43}, {'connected_gene': 'ENSG00000252190', 'score': 11.21}, {'connected_gene': 'ENSG00000252691', 'score': 11.21}, {'connected_gene': 'EXTL1', 'score': 10.52}, {'connected_gene': 'TRIM63', 'score': 9.73}, {'connected_gene': 'STMN1', 'score': 0.44}, {'connected_gene': 'GC01P025966', 'score': 0.23}]
chr1 GH01I025908 25908571 25909892 0.64 [{'connected_gene': 'MTFR1L', 'score': 27.29}, {'connected_gene': 'ENSG00000252190', 'score': 11.2}, {'connected_gene': 'ENSG00000252691', 'score': 11.2}, {'connected_gene': 'RNU6-110P', 'score': 11.15}, {'connected_gene': 'EXTL1', 'score': 10.51}, {'connected_gene': 'TRIM63', 'score': 9.68}, {'connected_gene': 'STMN1', 'score': 0.77}, {'connected_gene': 'GC01P025966', 'score': 0.23}]
chr1 GH01I025957 25957102 25957975 0.43 [{'connected_gene': 'PAFAH2', 'score': 7.5}, {'connected_gene': 'SLC30A2', 'score': 4.34}, {'connected_gene': 'GC01P025966', 'score': 0.44}, {'connected_gene': 'STMN1', 'score': 0.23}]
chr1 GH01I025970 25970636 25972467 0.89 [{'connected_gene': 'PAFAH2', 'score': 13.75}, {'connected_gene': 'STMN1', 'score': 11.1}, {'connected_gene': 'EXTL1', 'score': 10.47}, {'connected_gene': 'GC01M025975', 'score': 0.77}, {'connected_gene': 'GC01P025967', 'score': 0.77}, {'connected_gene': 'PIR35611', 'score': 0.77}]
chr1 GH01I025952 25952530 25953496 0.31 [{'connected_gene': 'PAFAH2', 'score': 9.35}, {'connected_gene': 'GC01P025966', 'score': 0.39}, {'connected_gene': 'STMN1', 'score': 0.25}]
chr1 GH01I025958 25958134 25959108 0.46 [{'connected_gene': 'PAFAH2', 'score': 9.72}, {'connected_gene': 'GC01P025966', 'score': 0.44}, {'connected_gene': 'STMN1', 'score': 0.23}]
chr1 GH01I025988 25988103 25995413 1.53 [{'connected_gene': 'PAFAH2', 'score': 13.88}, {'connected_gene': 'RNU6-110P', 'score': 11.74}, {'connected_gene': 'STMN1', 'score': 11.19}, {'connected_gene': 'EXTL1', 'score': 11.04}, {'connected_gene': 'SLC30A2', 'score': 10.49}, {'connected_gene': 'TRIM63', 'score': 10.39}, {'connected_gene': 'FAM110D', 'score': 9.93}, {'connected_gene': 'PIR35611', 'score': 0.37}, {'connected_gene': 'GC01M025975', 'score': 0.37}]
chr1 GH01I025929 25927201 25927400 0.69 [{'connected_gene': 'STMN1', 'score': 0.34}, {'connected_gene': 'GC01P025966', 'score': 0.28}]
chr1 GH01I025928 25927650 25927799 0.66 [{'connected_gene': 'STMN1', 'score': 0.34}, {'connected_gene': 'GC01P025966', 'score': 0.28}]
chr1 GH01I025927 25927801 25928012 0.89 [{'connected_gene': 'STMN1', 'score': 0.34}, {'connected_gene': 'GC01P025966', 'score': 0.28}]
chr1 GH01I025926 25926835 25926936 0.61 [{'connected_gene': 'ZNF683', 'score': 2.75}, {'connected_gene': 'EXTL1', 'score': 2.54}, {'connected_gene': 'PAFAH2', 'score': 1.31}, {'connected_gene': 'STMN1', 'score': 0.37}, {'connected_gene': 'GC01P025966', 'score': 0.28}]
chr1 GH01I025754 25754383 25755402 0.94 [{'connected_gene': 'TMEM50A', 'score': 4.45}, {'connected_gene': 'STMN1', 'score': 2.78}, {'connected_gene': 'PDIK1L', 'score': 1.23}, {'connected_gene': 'FAM110D', 'score': 1.19}, {'connected_gene': 'GC01P025766', 'score': 0.39}, {'connected_gene': 'ENSG00000233478', 'score': 0.15}, {'connected_gene': 'MAN1C1', 'score': 0.12}]
chr1 GH01I025902 25902530 25902679 0.51 [{'connected_gene': 'EXTL1', 'score': 10.5}, {'connected_gene': 'PIR46219', 'score': 0.77}, {'connected_gene': 'STMN1', 'score': 0.77}, {'connected_gene': 'RPL39P7', 'score': 0.39}]
chr1 GH01I025945 25945090 25945239 0.46 [{'connected_gene': 'EXTL1', 'score': 10.98}, {'connected_gene': 'PAQR7', 'score': 10.44}, {'connected_gene': 'ENSG00000207302', 'score': 10.44}, {'connected_gene': 'TRIM63', 'score': 9.91}, {'connected_gene': 'GC01P025966', 'score': 0.37}, {'connected_gene': 'STMN1', 'score': 0.28}]
chr1 GH01I025914 25914001 25914201 0.4 [{'connected_gene': 'RNU6-110P', 'score': 11.43}, {'connected_gene': 'EXTL1', 'score': 10.14}, {'connected_gene': 'TRIM63', 'score': 9.73}, {'connected_gene': 'STMN1', 'score': 0.44}, {'connected_gene': 'GC01P025966', 'score': 0.23}]
chr1 GH01I025917 25917595 25918700 1.09 [{'connected_gene': 'RNU6-110P', 'score': 11.35}, {'connected_gene': 'ENSG00000252190', 'score': 10.52}, {'connected_gene': 'ENSG00000252691', 'score': 10.52}, {'connected_gene': 'EXTL1', 'score': 10.5}, {'connected_gene': 'SLC30A2', 'score': 9.81}, {'connected_gene': 'MTFR1L', 'score': 5.98}, {'connected_gene': 'STMN1', 'score': 0.39}, {'connected_gene': 'GC01P025966', 'score': 0.25}]
chr1 GH01I025030 25030442 25036673 1.7 [{'connected_gene': 'SRRM1', 'score': 66.03}, {'connected_gene': 'MAN1C1', 'score': 23.27}, {'connected_gene': 'RUNX3', 'score': 17.35}, {'connected_gene': 'SYF2', 'score': 15.89}, {'connected_gene': 'LOC105376878', 'score': 12.03}, {'connected_gene': 'ENSG00000261349', 'score': 10.03}, {'connected_gene': 'STMN1', 'score': 9.94}, {'connected_gene': 'RSRP1', 'score': 5.75}, {'connected_gene': 'SDHDP6', 'score': 4.61}, {'connected_gene': 'LOC105376879', 'score': 0.44}, {'connected_gene': 'MIR4425', 'score': 0.39}]
chr1 GH01I025885 25885043 25887387 0.66 [{'connected_gene': 'SNRPFP2', 'score': 550.77}, {'connected_gene': 'MTFR1L', 'score': 31.41}, {'connected_gene': 'ENSG00000252190', 'score': 11.65}, {'connected_gene': 'ENSG00000252691', 'score': 11.65}, {'connected_gene': 'RNU6-110P', 'score': 10.84}, {'connected_gene': 'EXTL1', 'score': 10.78}, {'connected_gene': 'SLC30A2', 'score': 10.49}, {'connected_gene': 'SELENON', 'score': 10.23}, {'connected_gene': 'TRIM63', 'score': 9.87}, {'connected_gene': 'PAQR7', 'score': 7.21}, {'connected_gene': 'ENSG00000207302', 'score': 0.44}, {'connected_gene': 'STMN1', 'score': 0.34}]
chr1 GH01I025858 25858278 25862859 2.55 [{'connected_gene': 'ENSG00000236528', 'score': 550.77}, {'connected_gene': 'AUNIP', 'score': 550.77}, {'connected_gene': 'ARID1A', 'score': 62.5}, {'connected_gene': 'HMGN2', 'score': 42.15}, {'connected_gene': 'MTFR1L', 'score': 39.99}, {'connected_gene': 'ENSG00000261349', 'score': 34.26}, {'connected_gene': 'SELENON', 'score': 29.25}, {'connected_gene': 'LOC101928324', 'score': 21.96}, {'connected_gene': 'RPL17P9', 'score': 20.87}, {'connected_gene': 'ZNF593', 'score': 13.59}, {'connected_gene': 'SYF2', 'score': 12.57}, {'connected_gene': 'LOC101928728', 'score': 11.68}, {'connected_gene': 'RSRP1', 'score': 10.44}, {'connected_gene': 'STMN1', 'score': 10.16}, {'connected_gene': 'PAQR7', 'score': 0.37}]
chr1 GH01I025903 25903144 25908088 2.26 [{'connected_gene': 'PIR46219', 'score': 550.77}, {'connected_gene': 'STMN1', 'score': 550.77}, {'connected_gene': 'LOC105376885', 'score': 550.77}, {'connected_gene': 'MIR3917', 'score': 550.77}, {'connected_gene': 'MTFR1L', 'score': 25.02}, {'connected_gene': 'GPN2', 'score': 23.24}, {'connected_gene': 'ENSG00000261349', 'score': 20.02}, {'connected_gene': 'ARID1A', 'score': 18.71}, {'connected_gene': 'HMGN2', 'score': 13.71}, {'connected_gene': 'PIGV', 'score': 13.67}, {'connected_gene': 'RPL17P9', 'score': 11.92}, {'connected_gene': 'ENSG00000236528', 'score': 11.9}, {'connected_gene': 'AUNIP', 'score': 11.9}, {'connected_gene': 'RNU6-110P', 'score': 10.8}, {'connected_gene': 'LOC101928324', 'score': 10.59}, {'connected_gene': 'LOC101928728', 'score': 10.47}, {'connected_gene': 'RSRP1', 'score': 10.47}, {'connected_gene': 'EXTL1', 'score': 10.25}, {'connected_gene': 'TRIM63', 'score': 9.4}, {'connected_gene': 'SELENON', 'score': 8.18}]
chr1 GH01I025954 25954250 25955442 0.2 [{'connected_gene': 'GC01P025966', 'score': 0.44}, {'connected_gene': 'STMN1', 'score': 0.25}]
chr1 GH01I026798 26798815 26801846 1.26 [{'connected_gene': 'GC01P026805', 'score': 550.77}, {'connected_gene': 'SFN', 'score': 11.68}, {'connected_gene': 'ENSG00000226698', 'score': 11.38}, {'connected_gene': 'GPATCH3', 'score': 10.6}, {'connected_gene': 'NUDC', 'score': 10.53}, {'connected_gene': 'MIR1976', 'score': 10.24}, {'connected_gene': 'RPS6KA1', 'score': 10.23}, {'connected_gene': 'STMN1', 'score': 9.93}, {'connected_gene': 'HMGN2', 'score': 9.19}, {'connected_gene': 'PIR59173', 'score': 0.44}, {'connected_gene': 'GC01P026802', 'score': 0.44}]

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