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
ENST00000381035 [[8478153, 8478304], [8486672, 8486900], [8491492, 8491688], [8503271, 8503888]] [[8486724, 8486900], [8491492, 8491688], [8503271, 8503430]]
ENST00000595142 [[8478173, 8478304], [8483420, 8483691], [8486672, 8486900], [8491492, 8491552]] [[8486724, 8486900], [8491492, 8491552]]
ENST00000601724 [[8478178, 8478304], [8483625, 8483691], [8486672, 8486900], [8491492, 8491557]] [[8486724, 8486900], [8491492, 8491557]]
ENST00000393944 [[8478186, 8478304], [8483420, 8483691], [8486672, 8486900], [8491492, 8491688], [8495541, 8495751], [8503271, 8503895]] [[8486724, 8486900], [8491492, 8491688], [8495541, 8495751], [8503271, 8503430]]
ENST00000215555 [[8478186, 8478304], [8486672, 8486900], [8491492, 8491688], [8495541, 8495751], [8503271, 8503895]] [[8486724, 8486900], [8491492, 8491688], [8495541, 8495751], [8503271, 8503430]]
ENST00000601283 [[8478188, 8478304], [8483420, 8483691], [8486672, 8486835], [8503418, 8503615]] [[8486724, 8486835], [8503418, 8503430]]
ENST00000595213 [[8478305, 8478678], [8483420, 8483691], [8486672, 8486893]] [[8486724, 8486893]]
ENST00000602117 [[8483288, 8483691], [8486672, 8486900], [8491492, 8491688], [8495541, 8495751], [8503271, 8503901]] [[8486724, 8486900], [8491492, 8491688], [8495541, 8495751], [8503271, 8503430]]
ENST00000594796 [[8486810, 8486900], [8491492, 8491688], [8495541, 8495776]] None
NM_001005416 [[8478186, 8478304], [8486672, 8486900], [8491492, 8491688], [8503271, 8503901]] [[8486724, 8486900], [8491492, 8491688], [8503271, 8503430]]
NM_001005415 [[8478186, 8478304], [8486672, 8486900], [8491492, 8491688], [8495541, 8495751], [8503271, 8503901]] [[8486724, 8486900], [8491492, 8491688], [8495541, 8495751], [8503271, 8503430]]
NM_016496 [[8478186, 8478304], [8483420, 8483691], [8486672, 8486900], [8491492, 8491688], [8495541, 8495751], [8503271, 8503901]] [[8486724, 8486900], [8491492, 8491688], [8495541, 8495751], [8503271, 8503430]]
Promoter
Chrom Start End Description
chr19 8478159 8478220 CAGE_peak_1_at_MARCH2_5end
chr19 8483230 8483243 CAGE_peak_5_at_MARCH2_5end
chr19 8483272 8483300 CAGE_peak_2_at_MARCH2_5end
chr19 8483304 8483326 CAGE_peak_3_at_MARCH2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I008511 8511857 8520274 2.55 [{'connected_gene': 'ZNF414', 'score': 572.01}, {'connected_gene': 'XAB2', 'score': 22.13}, {'connected_gene': 'ZNF317', 'score': 21.76}, {'connected_gene': 'MYO1F', 'score': 20.11}, {'connected_gene': 'ZNF177', 'score': 16.48}, {'connected_gene': 'ZNF266', 'score': 13.77}, {'connected_gene': 'PRAM1', 'score': 13.39}, {'connected_gene': 'HNRNPM', 'score': 11.86}, {'connected_gene': 'MAP2K7', 'score': 10.38}, {'connected_gene': 'ENSG00000267273', 'score': 10.09}, {'connected_gene': 'ZNF558', 'score': 10.03}, {'connected_gene': 'ZNF699', 'score': 9.91}, {'connected_gene': 'STXBP2', 'score': 9.72}, {'connected_gene': 'MARCH2', 'score': 9.19}, {'connected_gene': 'ENSG00000268618', 'score': 0.29}]
chr19 GH19I008468 8468257 8469417 0.46 [{'connected_gene': 'PRAM1', 'score': 21.35}, {'connected_gene': 'MARCH2', 'score': 15.11}, {'connected_gene': 'GC19P008487', 'score': 0.37}, {'connected_gene': 'ENSG00000279827', 'score': 0.34}, {'connected_gene': 'HNRNPM', 'score': 0.34}]
chr19 GH19I008501 8501805 8503850 1.47 [{'connected_gene': 'PRAM1', 'score': 564.32}, {'connected_gene': 'GC19P008503', 'score': 550.77}, {'connected_gene': 'MYO1F', 'score': 15.64}, {'connected_gene': 'ZNF414', 'score': 10.77}, {'connected_gene': 'MARCH2', 'score': 8.65}, {'connected_gene': 'GC19P008487', 'score': 0.37}]
chr19 GH19I008472 8472281 8474906 0.87 [{'connected_gene': 'MARCH2', 'score': 27.32}, {'connected_gene': 'PRAM1', 'score': 18.38}, {'connected_gene': 'GC19P008487', 'score': 0.39}, {'connected_gene': 'ENSG00000279827', 'score': 0.31}, {'connected_gene': 'HNRNPM', 'score': 0.31}]
chr19 GH19I008449 8449844 8450586 0.46 [{'connected_gene': 'MARCH2', 'score': 32.27}, {'connected_gene': 'PRAM1', 'score': 11.83}, {'connected_gene': 'ENSG00000279827', 'score': 0.77}, {'connected_gene': 'HNRNPM', 'score': 0.44}, {'connected_gene': 'GC19P008487', 'score': 0.28}]
chr19 GH19I008451 8451234 8452821 0.75 [{'connected_gene': 'MARCH2', 'score': 32.24}, {'connected_gene': 'PRAM1', 'score': 17.34}, {'connected_gene': 'ENSG00000279827', 'score': 0.44}, {'connected_gene': 'HNRNPM', 'score': 0.44}, {'connected_gene': 'GC19P008487', 'score': 0.28}]
chr19 GH19I008457 8457921 8461710 0.85 [{'connected_gene': 'MARCH2', 'score': 38.52}, {'connected_gene': 'PRAM1', 'score': 8.97}, {'connected_gene': 'ENSG00000279827', 'score': 0.39}, {'connected_gene': 'HNRNPM', 'score': 0.37}, {'connected_gene': 'GC19P008487', 'score': 0.31}]
chr19 GH19I008422 8422859 8425159 1.48 [{'connected_gene': 'MARCH2', 'score': 14.62}, {'connected_gene': 'PRAM1', 'score': 4.85}, {'connected_gene': 'MYO1F', 'score': 3.87}, {'connected_gene': 'PIR43177', 'score': 0.77}, {'connected_gene': 'GC19P008426', 'score': 0.77}, {'connected_gene': 'ENSG00000268931', 'score': 0.77}]
chr19 GH19I008492 8492409 8496444 1.07 [{'connected_gene': 'MARCH2', 'score': 29.33}, {'connected_gene': 'PRAM1', 'score': 6.81}, {'connected_gene': 'GC19P008487', 'score': 0.44}]
chr19 GH19I008421 8421675 8422686 0.79 [{'connected_gene': 'MARCH2', 'score': 8.51}, {'connected_gene': 'RPS28', 'score': 5.1}, {'connected_gene': 'PIR43177', 'score': 0.77}, {'connected_gene': 'GC19P008426', 'score': 0.77}]
chr19 GH19I008417 8417201 8419059 1.2 [{'connected_gene': 'MARCH2', 'score': 28.45}, {'connected_gene': 'XAB2', 'score': 18.25}, {'connected_gene': 'HNRNPM', 'score': 17.47}, {'connected_gene': 'ELAVL1', 'score': 14.42}, {'connected_gene': 'ZNF558', 'score': 13.21}, {'connected_gene': 'ZNF699', 'score': 12.56}, {'connected_gene': 'ZNF317', 'score': 12.4}, {'connected_gene': 'ZNF414', 'score': 11.33}, {'connected_gene': 'MAP2K7', 'score': 11.07}, {'connected_gene': 'ZNF559', 'score': 9.89}, {'connected_gene': 'GC19P008426', 'score': 0.44}, {'connected_gene': 'PIR43177', 'score': 0.44}]
chr19 GH19I008370 8370237 8371782 1.3 [{'connected_gene': 'MARCH2', 'score': 11.08}, {'connected_gene': 'ANGPTL4', 'score': 0.44}, {'connected_gene': 'MIR4999', 'score': 0.37}]
chr19 GH19I008413 8413000 8413801 1.9 [{'connected_gene': 'MARCH2', 'score': 565.51}, {'connected_gene': 'ELAVL1', 'score': 25.22}, {'connected_gene': 'HNRNPM', 'score': 22.44}, {'connected_gene': 'XAB2', 'score': 11.92}, {'connected_gene': 'ZNF558', 'score': 11.79}, {'connected_gene': 'ZNF699', 'score': 11.2}, {'connected_gene': 'PIR43177', 'score': 0.39}, {'connected_gene': 'GC19P008426', 'score': 0.39}]
chr19 GH19I008404 8404242 8405172 0.2 [{'connected_gene': 'MARCH2', 'score': 14.84}, {'connected_gene': 'RAB11B-AS1', 'score': 4.84}, {'connected_gene': 'GC19P008401', 'score': 0.77}, {'connected_gene': 'RAB11B', 'score': 0.39}]
chr19 GH19I008361 8361617 8365200 2.44 [{'connected_gene': 'ANGPTL4', 'score': 561.78}, {'connected_gene': 'HNRNPM', 'score': 67.89}, {'connected_gene': 'ZNF317', 'score': 62.29}, {'connected_gene': 'XAB2', 'score': 61.4}, {'connected_gene': 'ZNF699', 'score': 58.54}, {'connected_gene': 'ZNF558', 'score': 57.77}, {'connected_gene': 'MAP2K7', 'score': 43.9}, {'connected_gene': 'ELAVL1', 'score': 42.15}, {'connected_gene': 'ZNF559', 'score': 29.59}, {'connected_gene': 'ZNF414', 'score': 28.26}, {'connected_gene': 'ZNF177', 'score': 16.48}, {'connected_gene': 'RAB11B', 'score': 13.25}, {'connected_gene': 'RAB11B-AS1', 'score': 12.17}, {'connected_gene': 'MARCH2', 'score': 5.98}, {'connected_gene': 'MIR4999', 'score': 0.31}]
chr19 GH19I008353 8353801 8354400 1.06 [{'connected_gene': 'HNRNPM', 'score': 19.62}, {'connected_gene': 'ZNF699', 'score': 19.38}, {'connected_gene': 'ZNF317', 'score': 15.5}, {'connected_gene': 'ZNF558', 'score': 15.17}, {'connected_gene': 'ELAVL1', 'score': 14.32}, {'connected_gene': 'ZNF559', 'score': 12.93}, {'connected_gene': 'XAB2', 'score': 11.99}, {'connected_gene': 'MAP2K7', 'score': 10.77}, {'connected_gene': 'CD209', 'score': 10.13}, {'connected_gene': 'MARCH2', 'score': 6.71}, {'connected_gene': 'LOC100129682', 'score': 0.44}, {'connected_gene': 'ANGPTL4', 'score': 0.44}]
chr19 GH19I008540 8540697 8541362 1.03 [{'connected_gene': 'MYO1F', 'score': 20.74}, {'connected_gene': 'PRAM1', 'score': 6.99}, {'connected_gene': 'MARCH2', 'score': 2.49}, {'connected_gene': 'ENSG00000268618', 'score': 0.44}, {'connected_gene': 'ZNF414', 'score': 0.31}]
chr19 GH19I008574 8574752 8578173 1.53 [{'connected_gene': 'MYO1F', 'score': 593.39}, {'connected_gene': 'GC19M008577', 'score': 550.77}, {'connected_gene': 'ENSG00000279396', 'score': 550.77}, {'connected_gene': 'PRAM1', 'score': 10.7}, {'connected_gene': 'ENSG00000267986', 'score': 10.5}, {'connected_gene': 'MARCH2', 'score': 1.91}]
chr19 GH19I008566 8566854 8574398 1.21 [{'connected_gene': 'MYO1F', 'score': 40.23}, {'connected_gene': 'ZNF266', 'score': 19.92}, {'connected_gene': 'HNRNPM', 'score': 19.59}, {'connected_gene': 'ZNF699', 'score': 19.38}, {'connected_gene': 'ZNF317', 'score': 15.5}, {'connected_gene': 'ZNF558', 'score': 15.19}, {'connected_gene': 'ELAVL1', 'score': 14.3}, {'connected_gene': 'ZNF559', 'score': 12.93}, {'connected_gene': 'XAB2', 'score': 11.99}, {'connected_gene': 'PRAM1', 'score': 11.53}, {'connected_gene': 'MAP2K7', 'score': 10.75}, {'connected_gene': 'CD209', 'score': 10.12}, {'connected_gene': 'ENSG00000267986', 'score': 9.84}, {'connected_gene': 'ZNF426', 'score': 9.73}, {'connected_gene': 'MARCH2', 'score': 3.32}, {'connected_gene': 'RAB11B', 'score': 1.18}, {'connected_gene': 'ENSG00000279396', 'score': 0.44}, {'connected_gene': 'PIR49089', 'score': 0.44}]
chr19 GH19I008354 8354785 8357867 1.41 [{'connected_gene': 'RAB11B', 'score': 12.74}, {'connected_gene': 'ZNF559', 'score': 10.92}, {'connected_gene': 'MARCH2', 'score': 6.71}, {'connected_gene': 'RPS28', 'score': 4.81}, {'connected_gene': 'LOC100129682', 'score': 0.44}, {'connected_gene': 'ANGPTL4', 'score': 0.44}]
chr19 GH19I008365 8365601 8368702 1.34 [{'connected_gene': 'RAB11B', 'score': 13.28}, {'connected_gene': 'ENSG00000267510', 'score': 12.05}, {'connected_gene': 'ANGPTL4', 'score': 10.84}, {'connected_gene': 'MARCH2', 'score': 5.85}, {'connected_gene': 'MYO1F', 'score': 5.33}, {'connected_gene': 'MIR4999', 'score': 0.34}]
chr19 GH19I008388 8387709 8397979 2.53 [{'connected_gene': 'RAB11B', 'score': 550.77}, {'connected_gene': 'HNRNPM', 'score': 51.53}, {'connected_gene': 'ELAVL1', 'score': 50.22}, {'connected_gene': 'ZNF699', 'score': 38.92}, {'connected_gene': 'ZNF558', 'score': 38.15}, {'connected_gene': 'XAB2', 'score': 32.85}, {'connected_gene': 'ZNF317', 'score': 23.54}, {'connected_gene': 'ENSG00000269300', 'score': 20.34}, {'connected_gene': 'MAP2K7', 'score': 19.26}, {'connected_gene': 'MARCH2', 'score': 18.5}, {'connected_gene': 'ZNF177', 'score': 13.8}, {'connected_gene': 'ZNF559', 'score': 12.93}, {'connected_gene': 'RAB11B-AS1', 'score': 12.42}, {'connected_gene': 'LOC100128428', 'score': 11.99}, {'connected_gene': 'CD209', 'score': 10.13}, {'connected_gene': 'EVI5L', 'score': 10.05}, {'connected_gene': 'ANGPTL4', 'score': 8.89}, {'connected_gene': 'RPS28', 'score': 4.85}, {'connected_gene': 'MIR4999', 'score': 0.77}, {'connected_gene': 'GC19P008401', 'score': 0.44}]
chr19 GH19I008505 8505600 8507085 1.7 [{'connected_gene': 'ZNF266', 'score': 20.85}, {'connected_gene': 'XAB2', 'score': 15.48}, {'connected_gene': 'ZNF699', 'score': 15.16}, {'connected_gene': 'HNRNPM', 'score': 14.3}, {'connected_gene': 'ZNF558', 'score': 14.15}, {'connected_gene': 'ZNF559', 'score': 12.53}, {'connected_gene': 'ZNF317', 'score': 12.26}, {'connected_gene': 'ELAVL1', 'score': 10.45}, {'connected_gene': 'ZNF414', 'score': 10.03}, {'connected_gene': 'MARCH2', 'score': 8.39}, {'connected_gene': 'GC19P008503', 'score': 0.77}]
chr19 GH19I008373 8373553 8375028 1.13 [{'connected_gene': 'RAB11B-AS1', 'score': 12.5}, {'connected_gene': 'MARCH2', 'score': 11.06}, {'connected_gene': 'ANGPTL4', 'score': 9.42}, {'connected_gene': 'MIR4999', 'score': 0.37}]
chr19 GH19I008485 8485788 8490491 1.06 [{'connected_gene': 'GC19P008487', 'score': 550.77}, {'connected_gene': 'MARCH2', 'score': 38.36}, {'connected_gene': 'PRAM1', 'score': 9.36}, {'connected_gene': 'HNRNPM', 'score': 0.26}]
chr19 GH19I008444 8444200 8448139 2.24 [{'connected_gene': 'ENSG00000279827', 'score': 550.77}, {'connected_gene': 'HNRNPM', 'score': 550.77}, {'connected_gene': 'MARCH2', 'score': 32.29}, {'connected_gene': 'PRAM1', 'score': 9.32}, {'connected_gene': 'GC19P008487', 'score': 0.26}]
chr19 GH19I008433 8433757 8434958 0.89 [{'connected_gene': 'GC19M008427', 'score': 0.44}, {'connected_gene': 'HNRNPM', 'score': 0.39}, {'connected_gene': 'MARCH2', 'score': 0.34}]

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