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
ENST00000302188 [[28004230, 28004655], [28050433, 28050622], [28055552, 28055644], [28065933, 28066098], [28069908, 28069971], [28070900, 28070964], [28081305, 28081438], [28113123, 28113965]] [[28004481, 28004655], [28050433, 28050622], [28055552, 28055644], [28065933, 28066098], [28069908, 28069971], [28070900, 28070964], [28081305, 28081438], [28113123, 28113212]]
ENST00000449378 [[28004439, 28004655], [28050433, 28050622], [28055552, 28055644], [28065933, 28066098], [28069908, 28069971], [28070900, 28070964], [28081305, 28081438], [28092638, 28093757], [28113123, 28113233]] [[28093654, 28093757], [28113123, 28113212]]
ENST00000444339 [[28032165, 28032912], [28050433, 28050622], [28055552, 28055644], [28065933, 28066098], [28069908, 28069971], [28070900, 28070964], [28081305, 28081438], [28113123, 28113217]] [[28032846, 28032912], [28050433, 28050622], [28055552, 28055644], [28065933, 28066098], [28069908, 28069971], [28070900, 28070964], [28081305, 28081438], [28113123, 28113212]]
ENST00000458185 [[28032553, 28032912], [28050433, 28050622], [28055552, 28055644], [28065933, 28066028]] [[28032846, 28032912], [28050433, 28050622], [28055552, 28055644], [28065933, 28066028]]
ENST00000453412 [[28081367, 28081438], [28084279, 28084413], [28113123, 28113548]] [[28084391, 28084413], [28113123, 28113212]]
NM_001287580 [[28004230, 28004655], [28050433, 28050622], [28055552, 28055644], [28065933, 28066098], [28069908, 28069971], [28070900, 28070964], [28081305, 28081438], [28092638, 28093757], [28113123, 28113263]] [[28004481, 28004655], [28050433, 28050622], [28055552, 28055644], [28065933, 28066098], [28069908, 28069971], [28070900, 28070964], [28081305, 28081326]]
NM_022128 [[28004230, 28004655], [28050433, 28050622], [28055552, 28055644], [28065933, 28066098], [28069908, 28069971], [28070900, 28070964], [28081305, 28081438], [28113123, 28113263]] [[28004481, 28004655], [28050433, 28050622], [28055552, 28055644], [28065933, 28066098], [28069908, 28069971], [28070900, 28070964], [28081305, 28081438], [28113123, 28113212]]
Promoter
Chrom Start End Description
chr2 28113217 28113265 CAGE_peak_1_at_RBKS_5end
chr2 28113427 28113439 CAGE_peak_5_at_RBKS_5end
chr2 28113471 28113493 CAGE_peak_2_at_RBKS_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I027719 27719490 27722005 1.66 [{'connected_gene': 'SUPT7L', 'score': 55.03}, {'connected_gene': 'CAD', 'score': 44.01}, {'connected_gene': 'ZNF512', 'score': 39.33}, {'connected_gene': 'EIF2B4', 'score': 35.14}, {'connected_gene': 'GPN1', 'score': 31.87}, {'connected_gene': 'GTF3C2', 'score': 25.12}, {'connected_gene': 'ZNF513', 'score': 24.26}, {'connected_gene': 'AGBL5', 'score': 23.54}, {'connected_gene': 'GTF3C2-AS1', 'score': 22.82}, {'connected_gene': 'LOC105374363', 'score': 18.86}, {'connected_gene': 'ENSG00000272148', 'score': 14.04}, {'connected_gene': 'IFT172', 'score': 12.78}, {'connected_gene': 'PPM1G', 'score': 12.66}, {'connected_gene': 'AGBL5-IT1', 'score': 11.41}, {'connected_gene': 'C2orf16', 'score': 11.21}, {'connected_gene': 'SNX17', 'score': 11.2}, {'connected_gene': 'ENSG00000272056', 'score': 10.72}, {'connected_gene': 'RBKS', 'score': 6.1}, {'connected_gene': 'LINC01460', 'score': 0.77}, {'connected_gene': 'LOC105374378', 'score': 0.77}, {'connected_gene': 'MRPL33', 'score': 0.23}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027794 27794940 27801566 1.64 [{'connected_gene': 'MRPL33', 'score': 15.8}, {'connected_gene': 'FNDC4', 'score': 11.05}, {'connected_gene': 'PLB1', 'score': 10.9}, {'connected_gene': 'LOC102723530', 'score': 10.9}, {'connected_gene': 'SNRPGP7', 'score': 10.9}, {'connected_gene': 'SNX17', 'score': 8.65}, {'connected_gene': 'RBKS', 'score': 5.9}, {'connected_gene': 'ATRAID', 'score': 4.25}, {'connected_gene': 'GC02P027841', 'score': 0.26}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027792 27792601 27793001 0.51 [{'connected_gene': 'MRPL33', 'score': 11.79}, {'connected_gene': 'SLC4A1AP', 'score': 4.76}, {'connected_gene': 'GC02P027841', 'score': 0.25}, {'connected_gene': 'RBKS', 'score': 0.15}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027734 27734974 27739232 1.62 [{'connected_gene': 'MRPL33', 'score': 11.95}, {'connected_gene': 'LINC01460', 'score': 11.85}, {'connected_gene': 'LOC102723530', 'score': 11.66}, {'connected_gene': 'SNRPGP7', 'score': 11.65}, {'connected_gene': 'PLB1', 'score': 11.65}, {'connected_gene': 'FLJ31356', 'score': 11.36}, {'connected_gene': 'FOSL2', 'score': 11.36}, {'connected_gene': 'FNDC4', 'score': 7.74}, {'connected_gene': 'RBKS', 'score': 2.14}, {'connected_gene': 'LOC105374378', 'score': 0.34}, {'connected_gene': 'GC02M027478', 'score': 0.04}]
chr2 GH02I027808 27808470 27811381 0.99 [{'connected_gene': 'FNDC4', 'score': 10.9}, {'connected_gene': 'GC02P027841', 'score': 0.29}, {'connected_gene': 'MRPL33', 'score': 0.28}, {'connected_gene': 'RBKS', 'score': 0.18}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027831 27831220 27833253 0.69 [{'connected_gene': 'FNDC4', 'score': 9.13}, {'connected_gene': 'GC02P027841', 'score': 0.44}, {'connected_gene': 'RBKS', 'score': 0.22}, {'connected_gene': 'MRPL33', 'score': 0.21}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027855 27855113 27858339 0.62 [{'connected_gene': 'FNDC4', 'score': 10.44}, {'connected_gene': 'KHK', 'score': 4.29}, {'connected_gene': 'GC02P027841', 'score': 0.39}, {'connected_gene': 'RBKS', 'score': 0.29}, {'connected_gene': 'BABAM2', 'score': 0.29}, {'connected_gene': 'MRPL33', 'score': 0.17}, {'connected_gene': 'GC02M027478', 'score': 0.06}]
chr2 GH02I027860 27860276 27860426 0.55 [{'connected_gene': 'RBKS', 'score': 5.5}, {'connected_gene': 'GC02P027841', 'score': 0.37}, {'connected_gene': 'BABAM2', 'score': 0.31}, {'connected_gene': 'MRPL33', 'score': 0.17}, {'connected_gene': 'GC02M027478', 'score': 0.06}]
chr2 GH02I027884 27884926 27892403 2.5 [{'connected_gene': 'RBKS', 'score': 550.77}, {'connected_gene': 'BABAM2', 'score': 550.77}, {'connected_gene': 'TRMT61B', 'score': 10.11}, {'connected_gene': 'KRTCAP3', 'score': 5.24}, {'connected_gene': 'FNDC4', 'score': 5.23}, {'connected_gene': 'SLC4A1AP', 'score': 4.45}, {'connected_gene': 'BRE-AS1', 'score': 0.77}, {'connected_gene': 'GC02P027841', 'score': 0.25}, {'connected_gene': 'MRPL33', 'score': 0.13}, {'connected_gene': 'GC02M027478', 'score': 0.06}]
chr2 GH02I028177 28177892 28178343 0.39 [{'connected_gene': 'RBKS', 'score': 1.91}, {'connected_gene': 'FOSL2', 'score': 1.72}, {'connected_gene': 'BABAM2', 'score': 1.22}, {'connected_gene': 'GC02M027478', 'score': 0.44}, {'connected_gene': 'LOC100505736', 'score': 0.31}]
chr2 GH02I027854 27854547 27854767 0.45 [{'connected_gene': 'RBKS', 'score': 2.67}, {'connected_gene': 'ZNF513', 'score': 1.11}, {'connected_gene': 'GC02P027841', 'score': 0.39}, {'connected_gene': 'BABAM2', 'score': 0.28}, {'connected_gene': 'MRPL33', 'score': 0.18}, {'connected_gene': 'GC02M027478', 'score': 0.06}]
chr2 GH02I028358 28358369 28362339 1.75 [{'connected_gene': 'FOSL2', 'score': 41.17}, {'connected_gene': 'EIF2B4', 'score': 14.21}, {'connected_gene': 'LOC100505716', 'score': 13.18}, {'connected_gene': 'FLJ31356', 'score': 12.37}, {'connected_gene': 'TRMT61B', 'score': 11.48}, {'connected_gene': 'WDR43', 'score': 10.96}, {'connected_gene': 'GPN1', 'score': 10.93}, {'connected_gene': 'RBKS', 'score': 10.71}, {'connected_gene': 'SUPT7L', 'score': 10.66}, {'connected_gene': 'ZNF512', 'score': 10.14}, {'connected_gene': 'PPP1CB', 'score': 2.92}, {'connected_gene': 'LOC105374382', 'score': 0.77}, {'connected_gene': 'LOC105374383', 'score': 0.37}]
chr2 GH02I027901 27901225 27901607 0.46 [{'connected_gene': 'FOSL2', 'score': 15.97}, {'connected_gene': 'FNDC4', 'score': 9.18}, {'connected_gene': 'RBKS', 'score': 6.73}, {'connected_gene': 'LOC100420770', 'score': 0.77}, {'connected_gene': 'BABAM2', 'score': 0.39}, {'connected_gene': 'LOC105374369', 'score': 0.26}, {'connected_gene': 'MRPL33', 'score': 0.13}, {'connected_gene': 'GC02M027478', 'score': 0.06}]
chr2 GH02I027919 27919683 27923043 1.2 [{'connected_gene': 'FOSL2', 'score': 19.79}, {'connected_gene': 'RBKS', 'score': 11.01}, {'connected_gene': 'SNX17', 'score': 7.37}, {'connected_gene': 'FNDC4', 'score': 6.12}, {'connected_gene': 'BABAM2', 'score': 2.31}, {'connected_gene': 'LOC100420770', 'score': 0.34}, {'connected_gene': 'LOC105374369', 'score': 0.34}, {'connected_gene': 'MRPL33', 'score': 0.11}, {'connected_gene': 'GC02M027478', 'score': 0.07}]
chr2 GH02I028290 28290369 28290571 0.26 [{'connected_gene': 'FOSL2', 'score': 10.16}, {'connected_gene': 'RBKS', 'score': 4.42}, {'connected_gene': 'PPP1CB', 'score': 1.47}, {'connected_gene': 'RPL23AP34', 'score': 0.37}, {'connected_gene': 'LOC100505736', 'score': 0.18}, {'connected_gene': 'BABAM2', 'score': 0.05}]
chr2 GH02I028296 28296356 28296592 0.68 [{'connected_gene': 'FOSL2', 'score': 10.62}, {'connected_gene': 'RBKS', 'score': 3.66}, {'connected_gene': 'PPP1CB', 'score': 1.58}, {'connected_gene': 'RPL23AP34', 'score': 0.39}, {'connected_gene': 'LOC100505736', 'score': 0.17}, {'connected_gene': 'BABAM2', 'score': 0.05}]
chr2 GH02I027953 27953002 27961463 1.59 [{'connected_gene': 'FOSL2', 'score': 32.84}, {'connected_gene': 'RBKS', 'score': 12.19}, {'connected_gene': 'FLJ31356', 'score': 11.37}, {'connected_gene': 'FNDC4', 'score': 9.12}, {'connected_gene': 'C2orf16', 'score': 5.89}, {'connected_gene': 'CGREF1', 'score': 4.07}, {'connected_gene': 'LINC01460', 'score': 4.0}, {'connected_gene': 'BABAM2', 'score': 1.36}, {'connected_gene': 'GCKR', 'score': 1.14}, {'connected_gene': 'LOC100422227', 'score': 0.44}, {'connected_gene': 'GC02M027983', 'score': 0.31}, {'connected_gene': 'MRPL33', 'score': 0.09}, {'connected_gene': 'GC02M027478', 'score': 0.08}]
chr2 GH02I027914 27914200 27914802 0.8 [{'connected_gene': 'FOSL2', 'score': 13.64}, {'connected_gene': 'RBKS', 'score': 6.4}, {'connected_gene': 'SLC4A1AP', 'score': 4.47}, {'connected_gene': 'LOC100420770', 'score': 0.37}, {'connected_gene': 'BABAM2', 'score': 0.34}, {'connected_gene': 'LOC105374369', 'score': 0.31}, {'connected_gene': 'MRPL33', 'score': 0.11}, {'connected_gene': 'GC02M027478', 'score': 0.07}]
chr2 GH02I028363 28363804 28364086 0.5 [{'connected_gene': 'FOSL2', 'score': 23.28}, {'connected_gene': 'FLJ31356', 'score': 12.37}, {'connected_gene': 'RBKS', 'score': 3.62}, {'connected_gene': 'LOC105374382', 'score': 0.44}, {'connected_gene': 'LOC105374383', 'score': 0.39}]
chr2 GH02I028273 28273701 28277594 1.62 [{'connected_gene': 'FOSL2', 'score': 18.17}, {'connected_gene': 'LOC100505716', 'score': 12.46}, {'connected_gene': 'RBKS', 'score': 6.65}, {'connected_gene': 'LOC100505774', 'score': 5.5}, {'connected_gene': 'PPP1CB', 'score': 2.23}, {'connected_gene': 'RPL23AP34', 'score': 0.29}, {'connected_gene': 'LOC100505736', 'score': 0.2}, {'connected_gene': 'BABAM2', 'score': 0.05}]
chr2 GH02I027875 27875614 27875763 0.82 [{'connected_gene': 'SLC4A1AP', 'score': 4.18}, {'connected_gene': 'BABAM2', 'score': 0.39}, {'connected_gene': 'RBKS', 'score': 0.37}, {'connected_gene': 'GC02P027841', 'score': 0.29}, {'connected_gene': 'MRPL33', 'score': 0.15}, {'connected_gene': 'GC02M027478', 'score': 0.06}]
chr2 GH02I028376 28376490 28383881 1.49 [{'connected_gene': 'GPN1', 'score': 13.01}, {'connected_gene': 'NRBP1', 'score': 12.21}, {'connected_gene': 'WDR43', 'score': 11.36}, {'connected_gene': 'ENSG00000270210', 'score': 8.56}, {'connected_gene': 'FOSL2', 'score': 4.1}, {'connected_gene': 'RBKS', 'score': 3.71}, {'connected_gene': 'PPP1CB', 'score': 2.3}, {'connected_gene': 'BABAM2', 'score': 1.35}, {'connected_gene': 'LOC105374383', 'score': 0.77}, {'connected_gene': 'GC02P028390', 'score': 0.39}]
chr2 GH02I028355 28355005 28357428 1.63 [{'connected_gene': 'LOC105374382', 'score': 550.77}, {'connected_gene': 'FOSL2', 'score': 9.63}, {'connected_gene': 'ENSG00000230730', 'score': 4.76}, {'connected_gene': 'LOC105374363', 'score': 3.95}, {'connected_gene': 'RBKS', 'score': 2.51}, {'connected_gene': 'LOC105374381', 'score': 0.44}]
chr2 GH02I027801 27801946 27802023 0.49 [{'connected_gene': 'SNRPGP7', 'score': 10.9}, {'connected_gene': 'PLB1', 'score': 10.9}, {'connected_gene': 'LOC102723530', 'score': 10.9}, {'connected_gene': 'FNDC4', 'score': 9.89}, {'connected_gene': 'MRPL33', 'score': 5.9}, {'connected_gene': 'CCDC121', 'score': 2.87}, {'connected_gene': 'IFT172', 'score': 2.6}, {'connected_gene': 'ZNF512', 'score': 1.86}, {'connected_gene': 'SLC4A1AP', 'score': 1.85}, {'connected_gene': 'SUPT7L', 'score': 1.64}, {'connected_gene': 'GPN1', 'score': 1.23}, {'connected_gene': 'GC02P027841', 'score': 0.28}, {'connected_gene': 'RBKS', 'score': 0.17}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027803 27803001 27804000 0.4 [{'connected_gene': 'SNRPGP7', 'score': 10.9}, {'connected_gene': 'LOC102723530', 'score': 10.9}, {'connected_gene': 'PLB1', 'score': 10.9}, {'connected_gene': 'MRPL33', 'score': 0.29}, {'connected_gene': 'GC02P027841', 'score': 0.28}, {'connected_gene': 'RBKS', 'score': 0.17}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027897 27897401 27898503 0.79 [{'connected_gene': 'LOC100420770', 'score': 550.77}, {'connected_gene': 'FOSL2', 'score': 13.27}, {'connected_gene': 'RBKS', 'score': 7.98}, {'connected_gene': 'LINC01460', 'score': 4.01}, {'connected_gene': 'BABAM2', 'score': 0.44}, {'connected_gene': 'LOC105374369', 'score': 0.26}, {'connected_gene': 'MRPL33', 'score': 0.13}, {'connected_gene': 'GC02M027478', 'score': 0.06}]

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