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
ENST00000256255 [[29920527, 29921429], [29923503, 29923655], [29924292, 29924434], [29927157, 29927575], [29931392, 29931571], [29940362, 29940723]] [[29921403, 29921429], [29923503, 29923655], [29924292, 29924434], [29927157, 29927575], [29931392, 29931571], [29940362, 29940465]]
ENST00000518174 [[29920613, 29921429], [29923503, 29923655], [29924292, 29924434], [29927157, 29927575], [29931392, 29931567], [29940362, 29940640]] [[29931547, 29931567], [29940362, 29940465]]
ENST00000521265 [[29920641, 29921429], [29923543, 29923655], [29924292, 29924434], [29927157, 29927575], [29931392, 29931571], [29940362, 29940464]] [[29921339, 29921429], [29923543, 29923655], [29924292, 29924434], [29927157, 29927575], [29931392, 29931571], [29940362, 29940464]]
ENST00000545648 [[29920641, 29921429], [29923503, 29923655], [29924292, 29924434], [29927157, 29927575], [29931392, 29931415], [29931504, 29931571], [29940362, 29940659]] [[29921403, 29921429], [29923503, 29923655], [29924292, 29924434], [29927157, 29927341]]
ENST00000520303 [[29920645, 29921429], [29923503, 29923655], [29924292, 29924434], [29927157, 29927575], [29940362, 29940669]] [[29927564, 29927575], [29940362, 29940465]]
ENST00000536273 [[29921207, 29921429], [29923503, 29923655], [29924292, 29924434], [29927157, 29927575], [29940362, 29940481]] [[29921403, 29921429], [29923503, 29923655], [29924292, 29924434], [29927157, 29927341]]
ENST00000523127 [[29921310, 29921429], [29923503, 29923583], [29924292, 29924434], [29927157, 29927551]] [[29921403, 29921429], [29923503, 29923583], [29924292, 29924434], [29927157, 29927551]]
ENST00000518340 [[29921368, 29921413], [29927157, 29927575], [29940362, 29940481]] [[29927564, 29927575], [29940362, 29940465]]
ENST00000518296 [[29923227, 29923655], [29924292, 29924434], [29927157, 29927465]] [[29923450, 29923655], [29924292, 29924434], [29927157, 29927465]]
ENST00000521934 [[29923389, 29923655], [29924292, 29924569]] None
ENST00000522794 [[29924419, 29924434], [29927157, 29927575], [29931392, 29931571], [29939744, 29939940]] [[29924419, 29924434], [29927157, 29927575], [29931392, 29931566]]
ENST00000522055 [[29927308, 29927575], [29931392, 29931504], [29940377, 29940580]] [[29931481, 29931504], [29940377, 29940465]]
ENST00000523761 [[29927389, 29927575], [29931392, 29931544], [29940362, 29940590]] [[29927389, 29927575], [29931392, 29931544], [29940362, 29940465]]
ENST00000517569 [[29931209, 29931571], [29940362, 29940487]] None
ENST00000521083 [[29931394, 29931571], [29935727, 29935772], [29940362, 29940559]] None
NM_016127 [[29920527, 29921429], [29923503, 29923655], [29924292, 29924434], [29927157, 29927575], [29931392, 29931571], [29940362, 29940724]] [[29921403, 29921429], [29923503, 29923655], [29924292, 29924434], [29927157, 29927575], [29931392, 29931571], [29940362, 29940465]]
NM_001284239 [[29920527, 29921429], [29923503, 29923655], [29924292, 29924434], [29927157, 29927575], [29940362, 29940724]] [[29921403, 29921429], [29923503, 29923655], [29924292, 29924434], [29927157, 29927341]]
Promoter
Chrom Start End Description
chr8 29924377 29924442 CAGE_peak_6_at_TMEM66_5end
chr8 29931437 29931486 CAGE_peak_5_at_TMEM66_5end
chr8 29939744 29939772 CAGE_peak_10_at_TMEM66_5end
chr8 29939837 29939854 CAGE_peak_11_at_TMEM66_5end
chr8 29939916 29939927 CAGE_peak_16_at_TMEM66_5end
chr8 29939933 29939949 CAGE_peak_7_at_TMEM66_5end
chr8 29940475 29940486 CAGE_peak_4_at_TMEM66_5end
chr8 29940544 29940555 CAGE_peak_3_at_TMEM66_5end
chr8 29940569 29940596 CAGE_peak_1_at_TMEM66_5end
chr8 29940628 29940639 CAGE_peak_2_at_TMEM66_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH08I030060 30060817 30061531 0.38 [{'connected_gene': 'SARAF', 'score': 24.02}, {'connected_gene': 'DUSP4', 'score': 9.83}, {'connected_gene': 'RNU6-1218P', 'score': 0.37}, {'connected_gene': 'ENSG00000272256', '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 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 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 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 GH08I030076 30075465 30075614 0.4 [{'connected_gene': 'RNU6-1218P', 'score': 11.67}, {'connected_gene': 'ENSG00000272256', 'score': 0.44}, {'connected_gene': 'SARAF', 'score': 0.44}]
chr8 GH08I030390 30390176 30402482 1.28 [{'connected_gene': 'RBPMS-AS1', 'score': 9.68}, {'connected_gene': 'UBXN8', 'score': 7.57}, {'connected_gene': 'GTF2E2', 'score': 4.25}, {'connected_gene': 'SARAF', 'score': 4.16}, {'connected_gene': 'RBPMS', 'score': 0.39}, {'connected_gene': 'PIR31328', 'score': 0.1}]
chr8 GH08I030382 30382627 30388044 2.18 [{'connected_gene': 'RBPMS-AS1', 'score': 576.34}, {'connected_gene': 'RBPMS', 'score': 550.77}, {'connected_gene': 'UBXN8', 'score': 5.19}, {'connected_gene': 'SARAF', 'score': 4.31}]
chr8 GH08I030078 30078245 30078394 0.4 [{'connected_gene': 'ENSG00000272256', 'score': 0.77}, {'connected_gene': 'SARAF', 'score': 0.77}, {'connected_gene': 'RNU6-1218P', 'score': 0.29}]