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
ENST00000257290 [[55095263, 55095582], [55124923, 55124984], [55127261, 55127579], [55129833, 55130094], [55131085, 55131216], [55133455, 55133627], [55133718, 55133908], [55136799, 55136915], [55138560, 55138687], [55139703, 55139897], [55140697, 55140792], [55141007, 55141140], [55143554, 55143659], [55144062, 55144173], [55144528, 55144682], [55146482, 55146649], [55151537, 55151653], [55152007, 55152130], [55153596, 55153708], [55154965, 55155065], [55155175, 55155281], [55156479, 55156721], [55161291, 55164414]] [[55124935, 55124984], [55127261, 55127579], [55129833, 55130094], [55131085, 55131216], [55133455, 55133627], [55133718, 55133908], [55136799, 55136915], [55138560, 55138687], [55139703, 55139897], [55140697, 55140792], [55141007, 55141140], [55143554, 55143659], [55144062, 55144173], [55144528, 55144682], [55146482, 55146649], [55151537, 55151653], [55152007, 55152130], [55153596, 55153708], [55154965, 55155065], [55155175, 55155281], [55156479, 55156721], [55161291, 55161439]]
ENST00000508170 [[55095446, 55095582], [55124923, 55124984], [55127261, 55127579], [55129833, 55131520]] [[55124935, 55124984], [55127261, 55127579], [55129833, 55130123]]
ENST00000509092 [[55095458, 55095582], [55124923, 55124984], [55129833, 55130094], [55131085, 55131216], [55133455, 55133627], [55133718, 55133908], [55136799, 55136915], [55138560, 55138687], [55139703, 55139897], [55140697, 55140792], [55141007, 55141140], [55143554, 55143659], [55144062, 55144173], [55144528, 55144682], [55146482, 55146925]] None
ENST00000512143 [[55095459, 55095582], [55106204, 55106282], [55124923, 55124984], [55127261, 55127579]] [[55106219, 55106282], [55124923, 55124984], [55127261, 55127579]]
ENST00000509490 [[55095477, 55095582], [55124923, 55124984], [55127261, 55127579], [55129833, 55130094], [55131085, 55131216], [55133455, 55133627], [55133718, 55133908], [55136799, 55136915], [55138560, 55138687], [55139703, 55139897], [55140697, 55140792], [55141007, 55141140], [55143554, 55143659], [55144062, 55144173], [55144528, 55144682], [55144985, 55145138], [55146482, 55146649], [55147747, 55148145]] [[55124935, 55124984], [55127261, 55127579], [55129833, 55130094], [55131085, 55131216], [55133455, 55133627], [55133718, 55133908], [55136799, 55136915], [55138560, 55138687], [55139703, 55139897], [55140697, 55140792], [55141007, 55141140], [55143554, 55143659], [55144062, 55144173], [55144528, 55144682], [55144985, 55145061]]
ENST00000503856 [[55096009, 55096106], [55124923, 55124984], [55127261, 55127579], [55129833, 55129943]] [[55124935, 55124984], [55127261, 55127579], [55129833, 55129943]]
ENST00000504461 [[55096488, 55096773], [55124923, 55124984], [55127261, 55127579], [55129833, 55129940]] [[55124935, 55124984], [55127261, 55127579], [55129833, 55129940]]
ENST00000512522 [[55109741, 55109839], [55124923, 55124984], [55127261, 55127579], [55129833, 55129929]] [[55124935, 55124984], [55127261, 55127579], [55129833, 55129929]]
ENST00000461294 [[55142917, 55142941], [55143554, 55143659], [55144062, 55144413]] None
ENST00000507536 [[55143342, 55143659], [55144062, 55144173], [55144528, 55144682], [55146482, 55146649], [55147747, 55148144]] None
NM_001347827 [[55095255, 55095582], [55124923, 55124984], [55127261, 55127579], [55129833, 55130094], [55131085, 55131216], [55133455, 55133627], [55133718, 55133908], [55136799, 55136915], [55138560, 55138687], [55139703, 55139897], [55140697, 55140792], [55141007, 55141140], [55143554, 55143659], [55144062, 55144173], [55144528, 55144682], [55146482, 55146649], [55147747, 55148145]] [[55124935, 55124984], [55127261, 55127579], [55129833, 55130094], [55131085, 55131216], [55133455, 55133627], [55133718, 55133908], [55136799, 55136915], [55138560, 55138687], [55139703, 55139897], [55140697, 55140792], [55141007, 55141140], [55143554, 55143659], [55144062, 55144173], [55144528, 55144682], [55146482, 55146649], [55147747, 55147848]]
NM_006206 [[55095255, 55095582], [55124923, 55124984], [55127261, 55127579], [55129833, 55130094], [55131085, 55131216], [55133455, 55133627], [55133718, 55133908], [55136799, 55136915], [55138560, 55138687], [55139703, 55139897], [55140697, 55140792], [55141007, 55141140], [55143554, 55143659], [55144062, 55144173], [55144528, 55144682], [55146482, 55146649], [55151537, 55151653], [55152007, 55152130], [55153596, 55153708], [55154965, 55155065], [55155175, 55155281], [55156479, 55156721], [55161291, 55164414]] [[55124935, 55124984], [55127261, 55127579], [55129833, 55130094], [55131085, 55131216], [55133455, 55133627], [55133718, 55133908], [55136799, 55136915], [55138560, 55138687], [55139703, 55139897], [55140697, 55140792], [55141007, 55141140], [55143554, 55143659], [55144062, 55144173], [55144528, 55144682], [55146482, 55146649], [55151537, 55151653], [55152007, 55152130], [55153596, 55153708], [55154965, 55155065], [55155175, 55155281], [55156479, 55156721], [55161291, 55161439]]
NM_001347828 [[55095255, 55095582], [55106204, 55106282], [55124923, 55124984], [55127261, 55127579], [55129833, 55130094], [55131085, 55131216], [55133455, 55133627], [55133718, 55133908], [55136799, 55136915], [55138560, 55138687], [55139703, 55139897], [55140697, 55140792], [55141007, 55141140], [55143554, 55143659], [55144062, 55144173], [55144528, 55144682], [55146482, 55146649], [55151537, 55151653], [55152007, 55152130], [55153596, 55153708], [55154965, 55155065], [55155175, 55155281], [55156479, 55156721], [55161291, 55164414]] [[55106219, 55106282], [55124923, 55124984], [55127261, 55127579], [55129833, 55130094], [55131085, 55131216], [55133455, 55133627], [55133718, 55133908], [55136799, 55136915], [55138560, 55138687], [55139703, 55139897], [55140697, 55140792], [55141007, 55141140], [55143554, 55143659], [55144062, 55144173], [55144528, 55144682], [55146482, 55146649], [55151537, 55151653], [55152007, 55152130], [55153596, 55153708], [55154965, 55155065], [55155175, 55155281], [55156479, 55156721], [55161291, 55161439]]
NM_001347829 [[55099248, 55099610], [55124923, 55124984], [55127261, 55127579], [55129833, 55130094], [55131085, 55131216], [55133455, 55133627], [55133718, 55133908], [55136799, 55136915], [55138560, 55138687], [55139703, 55139897], [55140697, 55140792], [55141007, 55141140], [55143554, 55143659], [55144062, 55144173], [55144528, 55144682], [55146482, 55146649], [55151537, 55151653], [55152007, 55152130], [55153596, 55153708], [55154965, 55155065], [55155175, 55155281], [55156479, 55156721], [55161291, 55164414]] [[55124935, 55124984], [55127261, 55127579], [55129833, 55130094], [55131085, 55131216], [55133455, 55133627], [55133718, 55133908], [55136799, 55136915], [55138560, 55138687], [55139703, 55139897], [55140697, 55140792], [55141007, 55141140], [55143554, 55143659], [55144062, 55144173], [55144528, 55144682], [55146482, 55146649], [55151537, 55151653], [55152007, 55152130], [55153596, 55153708], [55154965, 55155065], [55155175, 55155281], [55156479, 55156721], [55161291, 55161439]]
NM_001347830 [[55100126, 55100665], [55124923, 55124984], [55127261, 55127579], [55129833, 55130094], [55131085, 55131216], [55133455, 55133627], [55133718, 55133908], [55136799, 55136915], [55138560, 55138687], [55139703, 55139897], [55140697, 55140792], [55141007, 55141140], [55143554, 55143659], [55144062, 55144173], [55144528, 55144682], [55146482, 55146649], [55151537, 55151653], [55152007, 55152130], [55153596, 55153708], [55154965, 55155065], [55155175, 55155281], [55156479, 55156721], [55161291, 55164414]] [[55100638, 55100665], [55124923, 55124984], [55127261, 55127579], [55129833, 55130094], [55131085, 55131216], [55133455, 55133627], [55133718, 55133908], [55136799, 55136915], [55138560, 55138687], [55139703, 55139897], [55140697, 55140792], [55141007, 55141140], [55143554, 55143659], [55144062, 55144173], [55144528, 55144682], [55146482, 55146649], [55151537, 55151653], [55152007, 55152130], [55153596, 55153708], [55154965, 55155065], [55155175, 55155281], [55156479, 55156721], [55161291, 55161439]]
Promoter
Chrom Start End Description
chr4 54243798 54243854 CAGE_peak_1_at_FIP1L1_5end,CAGE_peak_1_at_PDGFRA_5end
chr4 55095379 55095390 CAGE_peak_6_at_PDGFRA_5end
chr4 55095396 55095422 CAGE_peak_3_at_PDGFRA_5end
chr4 55095428 55095475 CAGE_peak_2_at_PDGFRA_5end
chr4 55095476 55095494 CAGE_peak_4_at_PDGFRA_5end
chr4 55095975 55095998 CAGE_peak_9_at_PDGFRA_5end
chr4 55096011 55096052 CAGE_peak_5_at_PDGFRA_5end
chr4 55096175 55096225 CAGE_peak_8_at_PDGFRA_5end
chr4 55096636 55096672 CAGE_peak_11_at_PDGFRA_5end
chr4 55143418 55143448 CAGE_peak_7_at_PDGFRA_5end
chr4 55143450 55143467 CAGE_peak_10_at_PDGFRA_5end
chr4 55143473 55143484 CAGE_peak_13_at_PDGFRA_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I053655 53655794 53657289 0.56 [{'connected_gene': 'LNX1', 'score': 11.73}, {'connected_gene': 'PDGFRA', 'score': 4.83}, {'connected_gene': 'LOC100506444', 'score': 0.77}, {'connected_gene': 'LNX1-AS2', 'score': 0.21}, {'connected_gene': 'ENSG00000282278', 'score': 0.06}]
chr4 GH04I053676 53676260 53677016 0.95 [{'connected_gene': 'LNX1', 'score': 18.04}, {'connected_gene': 'CHIC2', 'score': 5.77}, {'connected_gene': 'PDGFRA', 'score': 4.98}, {'connected_gene': 'GC04M053662', 'score': 0.44}, {'connected_gene': 'LOC100506444', 'score': 0.37}, {'connected_gene': 'ENSG00000282278', 'score': 0.06}]
chr4 GH04I053643 53643754 53645959 0.74 [{'connected_gene': 'PDGFRA', 'score': 5.24}, {'connected_gene': 'LNX1', 'score': 4.77}, {'connected_gene': 'LOC100506444', 'score': 0.39}, {'connected_gene': 'LNX1-AS2', 'score': 0.23}, {'connected_gene': 'ENSG00000282278', 'score': 0.06}]
chr4 GH04I053907 53907897 53909741 1.29 [{'connected_gene': 'PDGFRA', 'score': 11.45}, {'connected_gene': 'GSX2', 'score': 10.32}, {'connected_gene': 'LNX1', 'score': 9.78}, {'connected_gene': 'LOC100506444', 'score': 9.77}, {'connected_gene': 'ENSG00000249706', 'score': 7.92}, {'connected_gene': 'GC04M053928', 'score': 0.37}, {'connected_gene': 'ENSG00000282278', 'score': 0.03}]
chr4 GH04I054224 54224777 54235800 2.62 [{'connected_gene': 'PDGFRA', 'score': 556.67}, {'connected_gene': 'GSX2', 'score': 4.72}, {'connected_gene': 'LINC02283', 'score': 0.15}, {'connected_gene': 'ENSG00000282278', 'score': 0.03}]
chr4 GH04I054253 54253951 54256383 0.31 [{'connected_gene': 'PDGFRA', 'score': 11.84}, {'connected_gene': 'GSX2', 'score': 4.5}, {'connected_gene': 'LINC02283', 'score': 0.18}, {'connected_gene': 'ENSG00000282278', 'score': 0.02}]
chr4 GH04I054268 54268173 54269138 0.31 [{'connected_gene': 'PDGFRA', 'score': 0.28}, {'connected_gene': 'LINC02283', 'score': 0.21}, {'connected_gene': 'ENSG00000282278', 'score': 0.03}]
chr4 GH04I054276 54276560 54278576 0.72 [{'connected_gene': 'PDGFRA', 'score': 0.25}, {'connected_gene': 'LINC02283', 'score': 0.22}, {'connected_gene': 'ENSG00000282278', 'score': 0.03}]
chr4 GH04I054237 54237386 54238098 0.38 [{'connected_gene': 'PDGFRA', 'score': 0.44}, {'connected_gene': 'LINC02283', 'score': 0.15}, {'connected_gene': 'ENSG00000282278', 'score': 0.03}]
chr4 GH04I053919 53918610 53918722 0.4 [{'connected_gene': 'PDGFRA', 'score': 11.5}, {'connected_gene': 'GC04M053928', 'score': 0.44}, {'connected_gene': 'ENSG00000249706', 'score': 0.37}, {'connected_gene': 'ENSG00000282278', 'score': 0.03}]
chr4 GH04I053918 53918845 53920600 0.74 [{'connected_gene': 'CHIC2', 'score': 17.7}, {'connected_gene': 'ENSG00000249706', 'score': 14.37}, {'connected_gene': 'PDGFRA', 'score': 11.5}, {'connected_gene': 'GSX2', 'score': 10.99}, {'connected_gene': 'GC04M053928', 'score': 0.44}, {'connected_gene': 'ENSG00000282278', 'score': 0.03}]
chr4 GH04I054238 54238169 54238944 0.2 [{'connected_gene': 'GSX2', 'score': 4.44}, {'connected_gene': 'PDGFRA', 'score': 0.44}, {'connected_gene': 'LINC02283', 'score': 0.16}, {'connected_gene': 'ENSG00000282278', 'score': 0.03}]
chr4 GH04I054315 54315394 54316222 0.95 [{'connected_gene': 'LINC02283', 'score': 0.37}, {'connected_gene': 'PDGFRA', 'score': 0.17}]
chr4 GH04I054280 54280440 54282346 0.72 [{'connected_gene': 'LINC02283', 'score': 0.23}, {'connected_gene': 'PDGFRA', 'score': 0.23}, {'connected_gene': 'ENSG00000282278', 'score': 0.02}]
chr4 GH04I053913 53913565 53918491 1.23 [{'connected_gene': 'ENSG00000249706', 'score': 15.31}, {'connected_gene': 'PDGFRA', 'score': 11.75}, {'connected_gene': 'CHIC2', 'score': 9.02}, {'connected_gene': 'GC04M053928', 'score': 0.39}, {'connected_gene': 'ENSG00000282278', 'score': 0.03}]

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