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
ENST00000357525 [[118869460, 118869555], [118879987, 118881893]] [[118880084, 118880243]]
NM_002667 [[118869425, 118869555], [118879987, 118882878]] [[118880084, 118880243]]
Promoter
Chrom Start End Description
chr6 118869452 118869475 CAGE_peak_1_at_PLN_5end
chr6 118869482 118869497 CAGE_peak_2_at_PLN_5end
chr6 118869507 118869518 CAGE_peak_3_at_PLN_5end
chr6 118880031 118880048 CAGE_peak_5_at_PLN_5end
chr6 118880085 118880101 CAGE_peak_4_at_PLN_5end
chr6 118880179 118880186 CAGE_peak_8_at_PLN_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I118548 118548249 118548308 0.99 [{'connected_gene': 'PLN', 'score': 550.77}, {'connected_gene': 'BRD7P3', 'score': 0.25}, {'connected_gene': 'CEP85L', 'score': 0.1}]
chr6 GH06I118291 118291307 118291989 0.2 [{'connected_gene': 'PLN', 'score': 11.09}, {'connected_gene': 'SLC35F1', 'score': 6.41}, {'connected_gene': 'PIR48915', 'score': 0.14}, {'connected_gene': 'GC06M118401', 'score': 0.14}, {'connected_gene': 'LOC105377967', 'score': 0.08}]
chr6 GH06I118325 118325083 118327016 0.2 [{'connected_gene': 'PLN', 'score': 7.54}, {'connected_gene': 'PIR48915', 'score': 0.19}, {'connected_gene': 'GC06M118401', 'score': 0.19}, {'connected_gene': 'LOC105377967', 'score': 0.07}]
chr6 GH06I118334 118334897 118336196 0.31 [{'connected_gene': 'PLN', 'score': 5.45}, {'connected_gene': 'PIR48915', 'score': 0.21}, {'connected_gene': 'GC06M118401', 'score': 0.21}, {'connected_gene': 'LOC105377967', 'score': 0.07}]
chr6 GH06I118576 118576093 118576410 0.24 [{'connected_gene': 'PLN', 'score': 11.8}, {'connected_gene': 'SSXP10', 'score': 0.39}, {'connected_gene': 'CEP85L', 'score': 0.12}]
chr6 GH06I118536 118536042 118538613 1.5 [{'connected_gene': 'PLN', 'score': 39.12}, {'connected_gene': 'SSXP10', 'score': 16.71}, {'connected_gene': 'BRD7P3', 'score': 0.28}, {'connected_gene': 'CEP85L', 'score': 0.09}]
chr6 GH06I118292 118292019 118297629 0.43 [{'connected_gene': 'PLN', 'score': 11.09}, {'connected_gene': 'SSXP10', 'score': 8.29}, {'connected_gene': 'SLC35F1', 'score': 6.55}, {'connected_gene': 'PIR48915', 'score': 0.14}, {'connected_gene': 'GC06M118401', 'score': 0.14}, {'connected_gene': 'LOC105377967', 'score': 0.08}]
chr6 GH06I118509 118509022 118510310 0.46 [{'connected_gene': 'CEP85L', 'score': 5.54}, {'connected_gene': 'BRD7P3', 'score': 0.44}, {'connected_gene': 'PLN', 'score': 0.28}]
chr6 GH06I118525 118525376 118526906 0.31 [{'connected_gene': 'BRD7P3', 'score': 0.34}, {'connected_gene': 'PLN', 'score': 0.34}, {'connected_gene': 'CEP85L', 'score': 0.09}]
chr6 GH06I118315 118315390 118322838 0.65 [{'connected_gene': 'SLC35F1', 'score': 9.02}, {'connected_gene': 'PLN', 'score': 7.63}, {'connected_gene': 'SSXP10', 'score': 5.71}, {'connected_gene': 'PIR48915', 'score': 0.18}, {'connected_gene': 'GC06M118401', 'score': 0.18}, {'connected_gene': 'LOC105377967', 'score': 0.07}]
chr6 GH06I118305 118305651 118311517 0.43 [{'connected_gene': 'SLC35F1', 'score': 9.43}, {'connected_gene': 'SSXP10', 'score': 7.94}, {'connected_gene': 'PLN', 'score': 4.2}, {'connected_gene': 'PIR48915', 'score': 0.16}, {'connected_gene': 'GC06M118401', 'score': 0.16}, {'connected_gene': 'LOC105377967', 'score': 0.07}]
chr6 GH06I118510 118510943 118513791 0.31 [{'connected_gene': 'SSXP10', 'score': 16.66}, {'connected_gene': 'PLN', 'score': 12.13}, {'connected_gene': 'CEP85L', 'score': 5.46}, {'connected_gene': 'BRD7P3', 'score': 0.39}]
chr6 GH06I118551 118551001 118552177 1.07 [{'connected_gene': 'SSXP10', 'score': 14.89}, {'connected_gene': 'PLN', 'score': 0.77}, {'connected_gene': 'CEP85L', 'score': 0.1}]
chr6 GH06I118580 118580600 118583139 0.99 [{'connected_gene': 'SSXP10', 'score': 16.92}, {'connected_gene': 'PLN', 'score': 0.29}, {'connected_gene': 'CEP85L', 'score': 0.13}]
chr6 GH06I118513 118513972 118515844 0.2 [{'connected_gene': 'SSXP10', 'score': 16.67}, {'connected_gene': 'PLN', 'score': 12.14}, {'connected_gene': 'BRD7P3', 'score': 0.39}, {'connected_gene': 'CEP85L', 'score': 0.08}]
chr6 GH06I118527 118527522 118529308 0.2 [{'connected_gene': 'SSXP10', 'score': 15.25}, {'connected_gene': 'CEP85L', 'score': 5.28}, {'connected_gene': 'PLN', 'score': 0.37}, {'connected_gene': 'BRD7P3', 'score': 0.31}]
chr6 GH06I118375 118375982 118378769 0.96 [{'connected_gene': 'SSXP10', 'score': 12.01}, {'connected_gene': 'CEP85L', 'score': 4.42}, {'connected_gene': 'PLN', 'score': 1.84}, {'connected_gene': 'SLC35F1', 'score': 1.25}, {'connected_gene': 'PIR48915', 'score': 0.34}, {'connected_gene': 'GC06M118401', 'score': 0.34}, {'connected_gene': 'LOC105377967', 'score': 0.06}]
chr6 GH06I118557 118557793 118560023 0.98 [{'connected_gene': 'SSXP10', 'score': 11.12}, {'connected_gene': 'CEP85L', 'score': 9.38}, {'connected_gene': 'PLN', 'score': 0.39}]
chr6 GH06I118564 118564938 118565914 0.65 [{'connected_gene': 'SSXP10', 'score': 16.82}, {'connected_gene': 'CEP85L', 'score': 5.89}, {'connected_gene': 'PLN', 'score': 0.37}]
chr6 GH06I118505 118505272 118509010 0.75 [{'connected_gene': 'SSXP10', 'score': 16.69}, {'connected_gene': 'CEP85L', 'score': 5.66}, {'connected_gene': 'BRD7P3', 'score': 0.44}, {'connected_gene': 'PLN', 'score': 0.26}]