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
ENST00000369002 [[108188959, 108193051], [108194011, 108194116], [108197767, 108197866], [108202352, 108202454], [108204191, 108204350], [108214685, 108214859], [108215041, 108215101], [108218852, 108218935], [108222573, 108222721], [108224047, 108224202], [108225832, 108225925], [108227651, 108227784], [108227886, 108227981], [108230130, 108230239], [108232549, 108232600], [108233919, 108233978], [108234569, 108234631], [108243000, 108243113], [108246021, 108246136], [108250618, 108250718], [108279089, 108279393]] [[108192907, 108193051], [108194011, 108194116], [108197767, 108197866], [108202352, 108202454], [108204191, 108204350], [108214685, 108214859], [108215041, 108215101], [108218852, 108218935], [108222573, 108222721], [108224047, 108224202], [108225832, 108225925], [108227651, 108227784], [108227886, 108227981], [108230130, 108230239], [108232549, 108232600], [108233919, 108233978], [108234569, 108234631], [108243000, 108243113], [108246021, 108246136], [108250618, 108250718], [108279089, 108279213]]
ENST00000429168 [[108230211, 108230239], [108232549, 108232600], [108233919, 108233978], [108234569, 108234631], [108243000, 108243113], [108246021, 108246136], [108250618, 108250718], [108278425, 108278544]] [[108230211, 108230239], [108232549, 108232600], [108233919, 108233978], [108234569, 108234631], [108243000, 108243113], [108246021, 108246136], [108250618, 108250674]]
ENST00000484803 [[108232371, 108232600], [108233919, 108233978], [108234569, 108234631], [108243000, 108243113], [108246021, 108246136], [108250618, 108250718], [108279089, 108279135]] None
ENST00000446496 [[108246021, 108246136], [108250618, 108250718], [108277168, 108277310], [108279089, 108279315]] [[108277191, 108277310], [108279089, 108279213]]
ENST00000459782 [[108191968, 108193051], [108194011, 108194116], [108197767, 108198604]] None
ENST00000473746 [[108194088, 108194116], [108197767, 108197866], [108202352, 108202454], [108204191, 108204671]] None
ENST00000465210 [[108202163, 108202454], [108204191, 108204316]] None
ENST00000466419 [[108214783, 108215101], [108218852, 108218935], [108222573, 108222721], [108224047, 108224104]] None
ENST00000489455 [[108227668, 108227784], [108227886, 108227981], [108230130, 108230363]] None
ENST00000460009 [[108275787, 108275970], [108277168, 108277310], [108279089, 108279246]] None
NM_007214 [[108188959, 108193051], [108194011, 108194116], [108197767, 108197866], [108202352, 108202454], [108204191, 108204350], [108214685, 108214859], [108215041, 108215101], [108218852, 108218935], [108222573, 108222721], [108224047, 108224202], [108225832, 108225925], [108227651, 108227784], [108227886, 108227981], [108230130, 108230239], [108232549, 108232600], [108233919, 108233978], [108234569, 108234631], [108243000, 108243113], [108246021, 108246136], [108250618, 108250718], [108279089, 108279482]] [[108192907, 108193051], [108194011, 108194116], [108197767, 108197866], [108202352, 108202454], [108204191, 108204350], [108214685, 108214859], [108215041, 108215101], [108218852, 108218935], [108222573, 108222721], [108224047, 108224202], [108225832, 108225925], [108227651, 108227784], [108227886, 108227981], [108230130, 108230239], [108232549, 108232600], [108233919, 108233978], [108234569, 108234631], [108243000, 108243113], [108246021, 108246136], [108250618, 108250718], [108279089, 108279213]]
Promoter
Chrom Start End Description
chr6 108230222 108230242 CAGE_peak_6_at_SEC63_5end
chr6 108278456 108278473 CAGE_peak_7_at_SEC63_5end
chr6 108279263 108279284 CAGE_peak_4_at_SEC63_5end
chr6 108279288 108279308 CAGE_peak_3_at_SEC63_5end
chr6 108279309 108279366 CAGE_peak_2_at_SEC63_5end
chr6 108279369 108279422 CAGE_peak_1_at_SEC63_5end
chr6 108279467 108279526 CAGE_peak_5_at_SEC63_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I108699 108699201 108700400 1.1 [{'connected_gene': 'ZBTB24', 'score': 13.83}, {'connected_gene': 'CEP57L1', 'score': 11.79}, {'connected_gene': 'SEC63', 'score': 10.29}, {'connected_gene': 'ENSG00000271730', 'score': 9.73}, {'connected_gene': 'PIR33619', 'score': 0.39}, {'connected_gene': 'LINC00222', 'score': 0.23}]
chr6 GH06I108301 108301175 108303498 0.4 [{'connected_gene': 'SNX3', 'score': 12.41}, {'connected_gene': 'OSTM1', 'score': 10.39}, {'connected_gene': 'NR2E1', 'score': 10.38}, {'connected_gene': 'SEC63', 'score': 9.25}, {'connected_gene': 'AFG1L', 'score': 5.21}, {'connected_gene': 'RPL36AP24', 'score': 0.37}]
chr6 GH06I108476 108476641 108477190 0.4 [{'connected_gene': 'SNX3', 'score': 10.2}, {'connected_gene': 'OSTM1', 'score': 9.81}, {'connected_gene': 'NR2E1', 'score': 9.81}, {'connected_gene': 'SEC63', 'score': 9.43}, {'connected_gene': 'GC06P108423', 'score': 0.23}, {'connected_gene': 'GC06P108424', 'score': 0.23}, {'connected_gene': 'ENSG00000271608', 'score': 0.19}, {'connected_gene': 'AFG1L', 'score': 0.09}]
chr6 GH06I108541 108541801 108542469 1.26 [{'connected_gene': 'ARMC2', 'score': 10.83}, {'connected_gene': 'RNU6-653P', 'score': 10.32}, {'connected_gene': 'ARMC2-AS1', 'score': 9.6}, {'connected_gene': 'SEC63', 'score': 9.57}, {'connected_gene': 'OSTM1', 'score': 9.46}, {'connected_gene': 'NR2E1', 'score': 9.46}, {'connected_gene': 'ENSG00000271608', 'score': 0.44}, {'connected_gene': 'GC06P108423', 'score': 0.13}, {'connected_gene': 'GC06P108424', 'score': 0.13}]
chr6 GH06I107941 107941757 107941906 0.64 [{'connected_gene': 'RPL23AP50', 'score': 0.39}, {'connected_gene': 'SEC63', 'score': 0.37}, {'connected_gene': 'ENSG00000272476', 'score': 0.37}]
chr6 GH06I107972 107972030 107974028 0.72 [{'connected_gene': 'RPL23AP50', 'score': 10.99}, {'connected_gene': 'RNU6-437P', 'score': 10.99}, {'connected_gene': 'ENSG00000224987', 'score': 0.39}, {'connected_gene': 'SEC63', 'score': 0.39}]
chr6 GH06I108117 108117466 108119081 0.96 [{'connected_gene': 'NR2E1', 'score': 12.58}, {'connected_gene': 'OSTM1', 'score': 12.55}, {'connected_gene': 'SEC63', 'score': 9.48}, {'connected_gene': 'OSTM1-AS1', 'score': 0.44}, {'connected_gene': 'ENSG00000238490', 'score': 0.22}]
chr6 GH06I108133 108133393 108134876 1.12 [{'connected_gene': 'NR2E1', 'score': 12.62}, {'connected_gene': 'OSTM1', 'score': 12.57}, {'connected_gene': 'SEC63', 'score': 9.83}, {'connected_gene': 'GC06M108139', 'score': 0.44}, {'connected_gene': 'OSTM1-AS1', 'score': 0.39}]
chr6 GH06I107830 107830365 107831335 0.2 [{'connected_gene': 'SCML4', 'score': 9.79}, {'connected_gene': 'SEC63', 'score': 9.44}, {'connected_gene': 'ENSG00000280135', 'score': 0.12}]
chr6 GH06I107804 107804866 107807244 0.38 [{'connected_gene': 'SCML4', 'score': 25.2}, {'connected_gene': 'SEC63', 'score': 9.8}, {'connected_gene': 'ENSG00000280135', 'score': 0.14}]
chr6 GH06I107847 107847801 107849000 1.41 [{'connected_gene': 'SCML4', 'score': 556.87}, {'connected_gene': 'SEC63', 'score': 16.43}, {'connected_gene': 'ENSG00000280135', 'score': 0.11}]
chr6 GH06I107819 107819760 107825633 2.14 [{'connected_gene': 'SCML4', 'score': 595.93}, {'connected_gene': 'SEC63', 'score': 10.39}, {'connected_gene': 'ENSG00000280135', 'score': 0.13}]
chr6 GH06I108293 108293927 108296308 2.1 [{'connected_gene': 'AFG1L', 'score': 556.08}, {'connected_gene': 'SNX3', 'score': 12.45}, {'connected_gene': 'SEC63', 'score': 9.92}, {'connected_gene': 'RPL36AP24', 'score': 0.34}]
chr6 GH06I108555 108555734 108567589 2.7 [{'connected_gene': 'FOXO3', 'score': 565.18}, {'connected_gene': 'PIR59886', 'score': 550.77}, {'connected_gene': 'ZBTB24', 'score': 54.91}, {'connected_gene': 'SMPD2', 'score': 20.13}, {'connected_gene': 'CD164', 'score': 11.11}, {'connected_gene': 'RNU6-653P', 'score': 10.69}, {'connected_gene': 'ENSG00000271730', 'score': 10.2}, {'connected_gene': 'SEC63', 'score': 9.89}, {'connected_gene': 'LINC00222', 'score': 5.03}, {'connected_gene': 'SESN1', 'score': 4.0}, {'connected_gene': 'OSTM1', 'score': 1.13}, {'connected_gene': 'GC06M108618', 'score': 0.22}]
chr6 GH06I108732 108732095 108739308 1.47 [{'connected_gene': 'SEC63', 'score': 10.84}, {'connected_gene': 'ZBTB24', 'score': 10.76}, {'connected_gene': 'CEP57L1', 'score': 10.76}, {'connected_gene': 'FOXO3', 'score': 2.9}, {'connected_gene': 'LINC00222', 'score': 0.37}, {'connected_gene': 'PIR33619', 'score': 0.23}]
chr6 GH06I108001 108001216 108004326 1.11 [{'connected_gene': 'SEC63', 'score': 16.76}, {'connected_gene': 'RPL3P7', 'score': 0.77}, {'connected_gene': 'MTHFD2P3', 'score': 0.37}]
chr6 GH06I107954 107954426 107959760 2.45 [{'connected_gene': 'SEC63', 'score': 550.77}, {'connected_gene': 'ENSG00000272476', 'score': 550.77}, {'connected_gene': 'SCML4', 'score': 5.91}, {'connected_gene': 'RPL23AP50', 'score': 0.31}]
chr6 GH06I107964 107964117 107966856 1.19 [{'connected_gene': 'SEC63', 'score': 11.25}, {'connected_gene': 'ENSG00000272476', 'score': 7.3}, {'connected_gene': 'SCML4', 'score': 5.22}, {'connected_gene': 'ENSG00000224987', 'score': 0.34}]
chr6 GH06I107987 107987428 107989052 0.46 [{'connected_gene': 'SEC63', 'score': 11.87}, {'connected_gene': 'MTHFD2P3', 'score': 0.77}, {'connected_gene': 'RPL3P7', 'score': 0.37}]
chr6 GH06I107990 107990095 107992649 0.94 [{'connected_gene': 'SEC63', 'score': 11.85}, {'connected_gene': 'MTHFD2P3', 'score': 0.44}, {'connected_gene': 'RPL3P7', 'score': 0.39}]
chr6 GH06I107894 107894322 107896159 0.56 [{'connected_gene': 'SEC63', 'score': 10.73}, {'connected_gene': 'GC06P107867', 'score': 0.31}, {'connected_gene': 'GC06P107932', 'score': 0.29}]
chr6 GH06I108545 108545703 108547764 0.43 [{'connected_gene': 'RNU6-653P', 'score': 10.54}, {'connected_gene': 'NR2E1', 'score': 9.53}, {'connected_gene': 'OSTM1', 'score': 9.53}, {'connected_gene': 'SEC63', 'score': 9.26}, {'connected_gene': 'ENSG00000271608', 'score': 0.77}, {'connected_gene': 'GC06P108423', 'score': 0.13}, {'connected_gene': 'GC06P108424', 'score': 0.13}]
chr6 GH06I107952 107952717 107952866 0.91 [{'connected_gene': 'ENSG00000272476', 'score': 0.77}, {'connected_gene': 'SEC63', 'score': 0.44}, {'connected_gene': 'RPL23AP50', 'score': 0.34}]
chr6 GH06I108009 108009673 108010590 0.31 [{'connected_gene': 'PIR60649', 'score': 550.77}, {'connected_gene': 'SEC63', 'score': 11.0}, {'connected_gene': 'NR2E1', 'score': 10.2}, {'connected_gene': 'OSTM1', 'score': 10.19}, {'connected_gene': 'LOC105377929', 'score': 5.3}, {'connected_gene': 'GC06P108038', 'score': 0.31}]
chr6 GH06I107867 107867137 107867226 0.66 [{'connected_gene': 'GC06P107867', 'score': 550.77}, {'connected_gene': 'SEC63', 'score': 10.38}, {'connected_gene': 'SCML4', 'score': 0.37}]
chr6 GH06I107981 107980177 107980326 0.63 [{'connected_gene': 'ENSG00000224987', 'score': 0.44}, {'connected_gene': 'SEC63', 'score': 0.34}]
chr6 GH06I107980 107980417 107980586 0.69 [{'connected_gene': 'ENSG00000224987', 'score': 0.44}, {'connected_gene': 'SEC63', 'score': 0.34}]