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
ENST00000260453 [[56720928, 56721391], [56723570, 56723696], [56726335, 56726593], [56735627, 56735735], [56735835, 56736052], [56736641, 56736871], [56739038, 56739141], [56748591, 56748719], [56756223, 56756445], [56757167, 56757335]] [[56721298, 56721391], [56723570, 56723696], [56726335, 56726593], [56735627, 56735735], [56735835, 56736052], [56736641, 56736871], [56739038, 56739141], [56748591, 56748719], [56756223, 56756445], [56757167, 56757170]]
ENST00000566386 [[56713741, 56713976], [56721283, 56721391], [56723570, 56723696], [56726335, 56726405]] None
ENST00000558694 [[56755977, 56756445], [56757167, 56757283]] None
NM_018365 [[56720928, 56721391], [56723570, 56723696], [56726335, 56726593], [56735627, 56735735], [56735835, 56736052], [56736641, 56736871], [56739038, 56739141], [56748591, 56748719], [56756223, 56756445], [56757167, 56757335]] [[56721298, 56721391], [56723570, 56723696], [56726335, 56726593], [56735627, 56735735], [56735835, 56736052], [56736641, 56736871], [56739038, 56739141], [56748591, 56748719], [56756223, 56756445], [56757167, 56757170]]
Promoter
Chrom Start End Description
chr15 56757233 56757314 CAGE_peak_1_at_MNS1_5end
chr15 56757329 56757342 CAGE_peak_2_at_MNS1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I056425 56425741 56425924 0.22 [{'connected_gene': 'RFX7', 'score': 2.22}, {'connected_gene': 'MNS1', 'score': 1.9}, {'connected_gene': 'ZNF280D', 'score': 1.4}, {'connected_gene': 'TEX9', 'score': 1.24}, {'connected_gene': 'ENSG00000261823', 'score': 0.37}, {'connected_gene': 'ENSG00000277245', 'score': 0.34}]
chr15 GH15I056184 56183652 56183970 0.22 [{'connected_gene': 'MNS1', 'score': 1.63}, {'connected_gene': 'LOC390586', 'score': 0.44}, {'connected_gene': 'GC15M057416', 'score': 0.37}, {'connected_gene': 'GC15M057437', 'score': 0.37}, {'connected_gene': 'RFX7', 'score': 0.22}, {'connected_gene': 'GC15P056091', 'score': 0.16}]
chr15 GH15I056464 56464400 56465712 1.95 [{'connected_gene': 'MNS1', 'score': 550.77}, {'connected_gene': 'TEX9', 'score': 5.83}, {'connected_gene': 'PIR31560', 'score': 0.44}, {'connected_gene': 'GC15M057417', 'score': 0.44}]
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 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}]