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
ENST00000520739 [[29953002, 29953044], [29959413, 29959489], [29961815, 29962002], [30021626, 30021691], [30032600, 30032706], [30034641, 30034724]] [[29953028, 29953044], [29959413, 29959489], [29961815, 29962002], [30021626, 30021668]]
ENST00000321250 [[29952913, 29953044], [29959413, 29959489], [29961815, 29962002], [29963261, 29966040]] [[29953028, 29953044], [29959413, 29959489], [29961815, 29962002], [29963261, 29963378]]
ENST00000518001 [[29952925, 29953044], [29961815, 29962002], [29963261, 29963544]] [[29961906, 29962002], [29963261, 29963378]]
ENST00000520682 [[29952935, 29953044], [29959413, 29959489], [29961815, 29962002], [29989491, 29989699]] [[29953028, 29953044], [29959413, 29959489], [29961815, 29962002], [29989491, 29989699]]
ENST00000442880 [[29952940, 29953044], [29959413, 29959489], [29961815, 29962002], [29989890, 29990005], [29994787, 29995213]] [[29953028, 29953044], [29959413, 29959489], [29961815, 29962002], [29989890, 29990005], [29994787, 29994828]]
ENST00000523116 [[29952995, 29953044], [29959413, 29959489], [29961815, 29962002], [29994787, 29995864]] [[29953028, 29953044], [29959413, 29959489], [29961815, 29962002], [29994787, 29995018]]
ENST00000518192 [[29953164, 29953404], [29959413, 29959489], [29961815, 29962002], [29963261, 29963605]] [[29953319, 29953404], [29959413, 29959489], [29961815, 29962002], [29963261, 29963378]]
ENST00000519466 [[29959455, 29959489], [29961815, 29962002], [29962249, 29962603]] [[29959455, 29959489], [29961815, 29962002], [29962249, 29962438]]
NM_015344 [[29952921, 29953044], [29959413, 29959489], [29961815, 29962002], [29963261, 29965587]] [[29953028, 29953044], [29959413, 29959489], [29961815, 29962002], [29963261, 29963378]]
NM_001128208 [[29952921, 29953044], [29959413, 29959489], [29961815, 29962002], [29994787, 29995222]] [[29953028, 29953044], [29959413, 29959489], [29961815, 29962002], [29994787, 29995018]]
Promoter
Chrom Start End Description
chr8 29952484 29952496 CAGE_peak_4_at_LEPROTL1_5end
chr8 29952513 29952525 CAGE_peak_2_at_LEPROTL1_5end
chr8 29952916 29953016 CAGE_peak_1_at_LEPROTL1_5end
chr8 29953032 29953043 CAGE_peak_3_at_LEPROTL1_5end
chr8 29953118 29953123 CAGE_peak_7_at_LEPROTL1_5end
chr8 29953163 29953190 CAGE_peak_8_at_LEPROTL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I030201 30201688 30202983 0.7 [{'connected_gene': 'WRN', 'score': 17.83}, {'connected_gene': 'GTF2E2', 'score': 11.85}, {'connected_gene': 'ENSG00000253708', 'score': 10.27}, {'connected_gene': 'LEPROTL1', 'score': 10.09}, {'connected_gene': 'RNU5A-3P', 'score': 10.0}, {'connected_gene': 'RBPMS', 'score': 9.91}, {'connected_gene': 'RBPMS-AS1', 'score': 9.91}, {'connected_gene': 'ENSG00000272375', 'score': 0.77}, {'connected_gene': 'HSPA8P11', 'score': 0.29}]
chr8 GH08I030116 30116600 30117358 0.2 [{'connected_gene': 'RPS15AP24', 'score': 550.77}, {'connected_gene': 'LEPROTL1', 'score': 33.55}, {'connected_gene': 'GC08M030097', 'score': 0.34}]
chr8 GH08I030118 30118230 30119650 0.54 [{'connected_gene': 'RPS15AP24', 'score': 550.77}, {'connected_gene': 'LEPROTL1', 'score': 32.61}, {'connected_gene': 'ENSG00000271869', 'score': 0.28}]
chr8 GH08I030144 30144655 30145141 1.32 [{'connected_gene': 'MBOAT4', 'score': 550.39}, {'connected_gene': 'SARAF', 'score': 12.18}, {'connected_gene': 'ENSG00000271869', 'score': 0.39}, {'connected_gene': 'RPS15AP24', 'score': 0.31}, {'connected_gene': 'LEPROTL1', 'score': 0.25}]
chr8 GH08I030102 30102596 30104613 0.86 [{'connected_gene': 'SARAF', 'score': 12.2}, {'connected_gene': 'UBXN8', 'score': 4.89}, {'connected_gene': 'GC08M030097', 'score': 0.44}, {'connected_gene': 'LEPROTL1', 'score': 0.44}, {'connected_gene': 'RPS15AP24', 'score': 0.39}]
chr8 GH08I030149 30149601 30150000 0.2 [{'connected_gene': 'SARAF', 'score': 12.03}, {'connected_gene': 'ENSG00000271869', 'score': 0.44}, {'connected_gene': 'MBOAT4', 'score': 0.44}, {'connected_gene': 'RPS15AP24', 'score': 0.29}, {'connected_gene': 'LEPROTL1', 'score': 0.23}]
chr8 GH08I030079 30079830 30084817 2.31 [{'connected_gene': 'SARAF', 'score': 566.76}, {'connected_gene': 'ENSG00000272256', 'score': 550.77}, {'connected_gene': 'HSPA8P11', 'score': 25.18}, {'connected_gene': 'LEPROTL1', 'score': 23.19}, {'connected_gene': 'WRN', 'score': 21.69}, {'connected_gene': 'GTF2E2', 'score': 20.1}, {'connected_gene': 'RNU6-1218P', 'score': 0.28}]
chr8 GH08I030104 30104998 30106225 0.69 [{'connected_gene': 'SARAF', 'score': 12.2}, {'connected_gene': 'GC08M030097', 'score': 0.39}, {'connected_gene': 'LEPROTL1', 'score': 0.39}, {'connected_gene': 'RPS15AP24', 'score': 0.39}]
chr8 GH08I030086 30086435 30086761 0.2 [{'connected_gene': 'SARAF', 'score': 0.77}, {'connected_gene': 'LEPROTL1', 'score': 0.44}]
chr8 GH08I030055 30055091 30057204 0.62 [{'connected_gene': 'SARAF', 'score': 13.59}, {'connected_gene': 'DUSP4', 'score': 10.55}, {'connected_gene': 'LEPROTL1', 'score': 4.8}, {'connected_gene': 'RNU6-1218P', 'score': 0.39}, {'connected_gene': 'ENSG00000272256', 'score': 0.31}]
chr8 GH08I030115 30115163 30116101 0.31 [{'connected_gene': 'LEPROTL1', 'score': 35.75}, {'connected_gene': 'UBXN8', 'score': 5.3}, {'connected_gene': 'RPS15AP24', 'score': 0.77}, {'connected_gene': 'GC08M030097', 'score': 0.34}]
chr8 GH08I030112 30112183 30114370 1.33 [{'connected_gene': 'LEPROTL1', 'score': 35.87}, {'connected_gene': 'WRN', 'score': 10.25}, {'connected_gene': 'SARAF', 'score': 5.44}, {'connected_gene': 'HSPA8P11', 'score': 5.25}, {'connected_gene': 'RPS15AP24', 'score': 0.77}, {'connected_gene': 'GC08M030097', 'score': 0.37}]
chr8 GH08I030136 30136479 30138054 1.09 [{'connected_gene': 'LEPROTL1', 'score': 30.12}, {'connected_gene': 'WRN', 'score': 29.3}, {'connected_gene': 'SARAF', 'score': 12.13}, {'connected_gene': 'GTF2E2', 'score': 11.84}, {'connected_gene': 'ENSG00000253708', 'score': 10.19}, {'connected_gene': 'HSPA8P11', 'score': 5.46}, {'connected_gene': 'RPS15AP24', 'score': 0.37}, {'connected_gene': 'ENSG00000271869', 'score': 0.37}, {'connected_gene': 'MBOAT4', 'score': 0.34}]
chr8 GH08I030106 30106951 30108272 0.38 [{'connected_gene': 'LEPROTL1', 'score': 31.07}, {'connected_gene': 'GC08M030097', 'score': 0.39}, {'connected_gene': 'RPS15AP24', 'score': 0.39}]
chr8 GH08I030256 30256643 30257870 0.82 [{'connected_gene': 'LEPROTL1', 'score': 6.18}, {'connected_gene': 'TAGLN2P2', 'score': 0.44}, {'connected_gene': 'LOC100128441', 'score': 0.18}]
chr8 GH08I030132 30132218 30134965 1.07 [{'connected_gene': 'LEPROTL1', 'score': 12.9}, {'connected_gene': 'SARAF', 'score': 12.13}, {'connected_gene': 'RPS15AP24', 'score': 0.37}, {'connected_gene': 'ENSG00000271869', 'score': 0.34}, {'connected_gene': 'MBOAT4', 'score': 0.31}]
chr8 GH08I030097 30097692 30102331 1.6 [{'connected_gene': 'LEPROTL1', 'score': 46.97}, {'connected_gene': 'SARAF', 'score': 14.98}, {'connected_gene': 'MBOAT4', 'score': 5.26}, {'connected_gene': 'GC08M030097', 'score': 0.77}, {'connected_gene': 'RPS15AP24', 'score': 0.37}]
chr8 GH08I030088 30088167 30097403 2.73 [{'connected_gene': 'LEPROTL1', 'score': 595.63}, {'connected_gene': 'SARAF', 'score': 21.72}, {'connected_gene': 'HSPA8P11', 'score': 19.97}, {'connected_gene': 'WRN', 'score': 17.83}, {'connected_gene': 'GTF2E2', 'score': 11.83}, {'connected_gene': 'ENSG00000253708', 'score': 10.1}, {'connected_gene': 'MBOAT4', 'score': 5.37}, {'connected_gene': 'GC08M030097', 'score': 0.77}]
chr8 GH08I030075 30075983 30077546 1.3 [{'connected_gene': 'LEPROTL1', 'score': 40.67}, {'connected_gene': 'SARAF', 'score': 28.52}, {'connected_gene': 'HSPA8P11', 'score': 13.75}, {'connected_gene': 'PURG', 'score': 12.33}, {'connected_gene': 'MBOAT4', 'score': 5.21}, {'connected_gene': 'ENSG00000272256', 'score': 0.44}, {'connected_gene': 'RNU6-1218P', 'score': 0.29}]
chr8 GH08I030059 30059357 30060740 1.14 [{'connected_gene': 'LEPROTL1', 'score': 25.96}, {'connected_gene': 'SARAF', 'score': 11.69}, {'connected_gene': 'DUSP4', 'score': 9.83}, {'connected_gene': 'MBOAT4', 'score': 5.31}, {'connected_gene': 'RNU6-1218P', 'score': 0.37}, {'connected_gene': 'ENSG00000272256', 'score': 0.34}]
chr8 GH08I030062 30062500 30064596 0.31 [{'connected_gene': 'LEPROTL1', 'score': 25.97}, {'connected_gene': 'SARAF', 'score': 15.34}, {'connected_gene': 'DUSP4', 'score': 9.83}, {'connected_gene': 'ENSG00000272256', 'score': 0.37}, {'connected_gene': 'RNU6-1218P', 'score': 0.37}]
chr8 GH08I030071 30071747 30074978 0.49 [{'connected_gene': 'LEPROTL1', 'score': 27.03}, {'connected_gene': 'SARAF', 'score': 12.9}, {'connected_gene': 'RNU6-1218P', 'score': 11.68}, {'connected_gene': 'ENSG00000272256', 'score': 0.44}]
chr8 GH08I030084 30084891 30085949 0.31 [{'connected_gene': 'LEPROTL1', 'score': 24.68}, {'connected_gene': 'SARAF', 'score': 0.77}]
chr8 GH08I030141 30141148 30142414 1.06 [{'connected_gene': 'LEPROTL1', 'score': 13.14}, {'connected_gene': 'HSPA8P11', 'score': 12.7}, {'connected_gene': 'SARAF', 'score': 12.19}, {'connected_gene': 'WRN', 'score': 11.76}, {'connected_gene': 'ENSG00000271869', 'score': 0.39}, {'connected_gene': 'MBOAT4', 'score': 0.37}, {'connected_gene': 'RPS15AP24', 'score': 0.34}]
chr8 GH08I030229 30229025 30229842 0.59 [{'connected_gene': 'LEPROTL1', 'score': 8.88}, {'connected_gene': 'HSPA8P11', 'score': 6.1}, {'connected_gene': 'ENSG00000271869', 'score': 5.43}, {'connected_gene': 'ENSG00000272375', 'score': 0.29}]
chr8 GH08I030050 30050725 30051836 1.17 [{'connected_gene': 'LEPROTL1', 'score': 18.09}, {'connected_gene': 'DUSP4', 'score': 10.55}, {'connected_gene': 'WRN', 'score': 10.25}, {'connected_gene': 'RNU6-1218P', 'score': 0.44}, {'connected_gene': 'ENSG00000272256', 'score': 0.29}]
chr8 GH08I030032 30032703 30035696 0.54 [{'connected_gene': 'LEPROTL1', 'score': 28.44}, {'connected_gene': 'DUSP4', 'score': 10.23}, {'connected_gene': 'SARAF', 'score': 9.39}, {'connected_gene': 'MAP2K1P1', 'score': 0.44}, {'connected_gene': 'RNU6-1218P', 'score': 0.44}]
chr8 GH08I030069 30069158 30070222 0.2 [{'connected_gene': 'LEPROTL1', 'score': 27.47}, {'connected_gene': 'RNU6-1218P', 'score': 11.0}, {'connected_gene': 'ENSG00000272256', 'score': 0.39}, {'connected_gene': 'SARAF', 'score': 0.39}]
chr8 GH08I030065 30065479 30068474 0.38 [{'connected_gene': 'LEPROTL1', 'score': 30.27}, {'connected_gene': 'RNU6-1218P', 'score': 11.39}, {'connected_gene': 'ENSG00000272256', 'score': 0.37}, {'connected_gene': 'SARAF', 'score': 0.37}]
chr8 GH08I030203 30203598 30205590 0.31 [{'connected_gene': 'LEPROTL1', 'score': 10.02}, {'connected_gene': 'RNU5A-3P', 'score': 10.0}, {'connected_gene': 'RBPMS', 'score': 9.92}, {'connected_gene': 'RBPMS-AS1', 'score': 9.91}, {'connected_gene': 'ENSG00000272375', 'score': 0.44}, {'connected_gene': 'HSPA8P11', 'score': 0.29}]
chr8 GH08I030214 30214379 30216896 0.66 [{'connected_gene': 'LEPROTL1', 'score': 11.31}, {'connected_gene': 'ENSG00000253112', 'score': 10.8}, {'connected_gene': 'RBPMS-AS1', 'score': 10.38}, {'connected_gene': 'RBPMS', 'score': 10.38}, {'connected_gene': 'RNU5A-3P', 'score': 9.86}, {'connected_gene': 'HSPA8P11', 'score': 4.63}, {'connected_gene': 'ENSG00000272375', 'score': 0.37}]
chr8 GH08I029806 29806166 29807213 0.66 [{'connected_gene': 'DUSP4', 'score': 11.47}, {'connected_gene': 'LEPROTL1', 'score': 4.33}, {'connected_gene': 'SARAF', 'score': 4.03}, {'connected_gene': 'GC08P029814', 'score': 0.44}, {'connected_gene': 'LINC02099', 'score': 0.22}]
chr8 GH08I029734 29734608 29740429 1.67 [{'connected_gene': 'DUSP4', 'score': 9.46}, {'connected_gene': 'KIF13B', 'score': 4.25}, {'connected_gene': 'SARAF', 'score': 2.6}, {'connected_gene': 'LEPROTL1', 'score': 1.45}, {'connected_gene': 'LINC00589', 'score': 0.39}, {'connected_gene': 'RPL17P33', 'score': 0.14}]
chr8 GH08I030155 30155136 30158594 2.08 [{'connected_gene': 'DCTN6', 'score': 550.77}, {'connected_gene': 'ENSG00000271869', 'score': 550.77}, {'connected_gene': 'MBOAT4', 'score': 550.77}, {'connected_gene': 'WRN', 'score': 24.2}, {'connected_gene': 'LEPROTL1', 'score': 16.59}, {'connected_gene': 'SARAF', 'score': 12.25}, {'connected_gene': 'DUSP4', 'score': 10.55}, {'connected_gene': 'HSPA8P11', 'score': 9.98}]
chr8 GH08I030168 30168678 30170514 0.97 [{'connected_gene': 'RNU6-1218P', 'score': 10.58}, {'connected_gene': 'HSPA8P11', 'score': 6.07}, {'connected_gene': 'LEPROTL1', 'score': 5.4}, {'connected_gene': 'ENSG00000271869', 'score': 5.38}, {'connected_gene': 'ENSG00000253708', 'score': 0.39}, {'connected_gene': 'DCTN6', 'score': 0.39}, {'connected_gene': 'MBOAT4', 'score': 0.39}]
chr8 GH08I030209 30209625 30210413 0.2 [{'connected_gene': 'RBPMS-AS1', 'score': 10.23}, {'connected_gene': 'RBPMS', 'score': 10.23}, {'connected_gene': 'LEPROTL1', 'score': 9.36}, {'connected_gene': 'HSPA8P11', 'score': 6.44}, {'connected_gene': 'ENSG00000272375', 'score': 0.39}]
chr8 GH08I030173 30173123 30173234 0.66 [{'connected_gene': 'RBPMS-AS1', 'score': 10.33}, {'connected_gene': 'RBPMS', 'score': 10.33}, {'connected_gene': 'RNU6-1218P', 'score': 10.17}, {'connected_gene': 'ENSG00000253708', 'score': 0.44}, {'connected_gene': 'MBOAT4', 'score': 0.39}, {'connected_gene': 'DCTN6', 'score': 0.37}, {'connected_gene': 'LEPROTL1', 'score': 0.18}]
chr8 GH08I030174 30173828 30174454 0.78 [{'connected_gene': 'RBPMS-AS1', 'score': 10.33}, {'connected_gene': 'RBPMS', 'score': 10.33}, {'connected_gene': 'RNU6-1218P', 'score': 10.16}, {'connected_gene': 'ENSG00000253708', 'score': 0.44}, {'connected_gene': 'DCTN6', 'score': 0.37}, {'connected_gene': 'MBOAT4', 'score': 0.37}, {'connected_gene': 'LEPROTL1', 'score': 0.18}]

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