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
ENST00000302000 [[55831087, 55839345], [55841107, 55841193], [55881001, 55881145]] [[55838220, 55839345], [55841107, 55841193], [55881001, 55881050]]
ENST00000563719 [[55836884, 55839345], [55841107, 55841193], [55880032, 55880138]] [[55838220, 55839345], [55841107, 55841193], [55880032, 55880081]]
NM_001330326 [[55831078, 55837423], [55838202, 55839345], [55841107, 55841193], [55880032, 55880176]] [[55838220, 55839345], [55841107, 55841193], [55880032, 55880081]]
NM_015617 [[55831081, 55839345], [55841107, 55841193], [55881001, 55881050]] [[55838220, 55839345], [55841107, 55841193], [55881001, 55881050]]
Promoter
Chrom Start End Description
chr15 55880535 55880561 CAGE_peak_2_at_PYGO1_5end
chr15 55880566 55880639 CAGE_peak_1_at_PYGO1_5end
chr15 55880642 55880681 CAGE_peak_4_at_PYGO1_5end
chr15 55881109 55881120 CAGE_peak_12_at_PYGO1_5end
chr15 55881135 55881192 CAGE_peak_3_at_PYGO1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I055248 55248602 55254343 1.53 [{'connected_gene': 'RAB27A', 'score': 13.57}, {'connected_gene': 'RSL24D1', 'score': 11.24}, {'connected_gene': 'PIGB', 'score': 6.24}, {'connected_gene': 'PYGO1', 'score': 4.77}, {'connected_gene': 'CCPG1', 'score': 4.24}, {'connected_gene': 'GC15M057438', 'score': 0.31}, {'connected_gene': 'GC15P055286', 'score': 0.29}]
chr15 GH15I056037 56037742 56044220 1.53 [{'connected_gene': 'ZNF280D', 'score': 48.6}, {'connected_gene': 'RSL24D1', 'score': 23.8}, {'connected_gene': 'TEX9', 'score': 21.36}, {'connected_gene': 'PYGO1', 'score': 21.28}, {'connected_gene': 'PRTG', 'score': 21.17}, {'connected_gene': 'RFX7', 'score': 20.34}, {'connected_gene': 'MNS1', 'score': 19.09}, {'connected_gene': 'TCF12', 'score': 12.6}, {'connected_gene': 'PIGBOS1', 'score': 11.12}, {'connected_gene': 'RN7SL568P', 'score': 0.39}, {'connected_gene': 'CD24P2', 'score': 0.29}]
chr15 GH15I055791 55791147 55792935 0.86 [{'connected_gene': 'PRTG', 'score': 11.34}, {'connected_gene': 'PYGO1', 'score': 9.82}, {'connected_gene': 'RSL24D1', 'score': 5.34}, {'connected_gene': 'GC15P055749', 'score': 0.26}, {'connected_gene': 'NEDD4', 'score': 0.08}]
chr15 GH15I055768 55768372 55769389 0.46 [{'connected_gene': 'PRTG', 'score': 35.34}, {'connected_gene': 'PYGO1', 'score': 9.95}, {'connected_gene': 'GC15P055749', 'score': 0.37}, {'connected_gene': 'NEDD4', 'score': 0.07}]
chr15 GH15I055783 55783872 55787521 0.49 [{'connected_gene': 'PRTG', 'score': 15.63}, {'connected_gene': 'PYGO1', 'score': 10.39}, {'connected_gene': 'GC15P055749', 'score': 0.28}, {'connected_gene': 'NEDD4', 'score': 0.08}]
chr15 GH15I055661 55661061 55662380 0.62 [{'connected_gene': 'PRTG', 'score': 21.66}, {'connected_gene': 'ENSG00000259180', 'score': 0.37}, {'connected_gene': 'PYGO1', 'score': 0.19}]
chr15 GH15I055630 55630233 55631592 0.31 [{'connected_gene': 'PRTG', 'score': 16.84}, {'connected_gene': 'PYGO1', 'score': 11.86}, {'connected_gene': 'ENSG00000259180', 'score': 0.25}]
chr15 GH15I055627 55627323 55628880 0.98 [{'connected_gene': 'PRTG', 'score': 20.57}, {'connected_gene': 'PYGO1', 'score': 12.23}, {'connected_gene': 'ENSG00000259180', 'score': 0.23}]
chr15 GH15I055652 55652483 55652632 0.38 [{'connected_gene': 'PRTG', 'score': 10.94}, {'connected_gene': 'PYGO1', 'score': 10.37}, {'connected_gene': 'ENSG00000259180', 'score': 0.31}]
chr15 GH15I055582 55582256 55582415 0.33 [{'connected_gene': 'PRTG', 'score': 11.4}, {'connected_gene': 'PYGO1', 'score': 0.44}, {'connected_gene': 'GC15M057442', 'score': 0.39}]
chr15 GH15I055823 55823303 55823532 0.93 [{'connected_gene': 'PYGO1', 'score': 14.36}, {'connected_gene': 'TEX9', 'score': 13.21}, {'connected_gene': 'PRTG', 'score': 12.04}, {'connected_gene': 'PIGBOS1', 'score': 11.13}, {'connected_gene': 'MNS1', 'score': 10.69}, {'connected_gene': 'GC15P055749', 'score': 0.19}, {'connected_gene': 'NEDD4', 'score': 0.09}]
chr15 GH15I055587 55587200 55589584 1.72 [{'connected_gene': 'PYGO1', 'score': 550.77}, {'connected_gene': 'PRTG', 'score': 8.87}, {'connected_gene': 'GC15M057442', 'score': 0.34}]
chr15 GH15I055648 55648401 55648800 0.89 [{'connected_gene': 'PYGO1', 'score': 11.02}, {'connected_gene': 'ENSG00000259180', 'score': 0.29}, {'connected_gene': 'PRTG', 'score': 0.15}]
chr15 GH15I055514 55514543 55514692 0.2 [{'connected_gene': 'PYGO1', 'score': 10.69}, {'connected_gene': 'DNAAF4', 'score': 0.44}, {'connected_gene': 'GC15M057430', 'score': 0.39}]
chr15 GH15I055552 55552301 55554131 0.69 [{'connected_gene': 'PYGO1', 'score': 5.44}, {'connected_gene': 'GC15M057412', 'score': 0.39}, {'connected_gene': 'GC15M057442', 'score': 0.37}]
chr15 GH15I055497 55497600 55499140 1.92 [{'connected_gene': 'DNAAF4', 'score': 556.74}, {'connected_gene': 'DNAAF4-CCPG1', 'score': 550.77}, {'connected_gene': 'RSL24D1', 'score': 13.48}, {'connected_gene': 'PYGO1', 'score': 11.65}, {'connected_gene': 'C15orf65', 'score': 10.38}, {'connected_gene': 'PIGB', 'score': 9.63}, {'connected_gene': 'LOC100420711', 'score': 0.22}]
chr15 GH15I055401 55401729 55409389 2.1 [{'connected_gene': 'C15orf65', 'score': 560.67}, {'connected_gene': 'CCPG1', 'score': 550.77}, {'connected_gene': 'RSL24D1', 'score': 23.81}, {'connected_gene': 'NEDD4', 'score': 11.87}, {'connected_gene': 'PYGO1', 'score': 11.58}, {'connected_gene': 'DNAAF4', 'score': 11.28}, {'connected_gene': 'PIGBOS1', 'score': 10.62}, {'connected_gene': 'PIGB', 'score': 7.14}, {'connected_gene': 'GC15M057427', 'score': 0.44}, {'connected_gene': 'DNAAF4-CCPG1', 'score': 0.16}]
chr15 GH15I055530 55530877 55531287 0.37 [{'connected_gene': 'GC15M057430', 'score': 550.77}, {'connected_gene': 'PYGO1', 'score': 5.12}, {'connected_gene': 'GC15M057412', 'score': 0.39}]