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
ENST00000504968 [[110354927, 110355158], [110370572, 110370665], [110384056, 110384800], [110394159, 110394342], [110402832, 110402937], [110412482, 110412563], [110415770, 110416012], [110427486, 110427668], [110431164, 110431267], [110433112, 110433239], [110434902, 110435012], [110437683, 110437796], [110441521, 110441640], [110442272, 110442328], [110442575, 110442782], [110445973, 110446097], [110446501, 110446660], [110447381, 110447555], [110448477, 110448588], [110451444, 110451620], [110452540, 110452678], [110453794, 110453899], [110454748, 110454841], [110459648, 110459752], [110460716, 110460902]] [[110355025, 110355158], [110370572, 110370665], [110384056, 110384800], [110394159, 110394342], [110402832, 110402937], [110412482, 110412563], [110415770, 110416012], [110427486, 110427668], [110431164, 110431267], [110433112, 110433239], [110434902, 110435012], [110437683, 110437796], [110441521, 110441640], [110442272, 110442328], [110442575, 110442782], [110445973, 110446097], [110446501, 110446660], [110447381, 110447555], [110448477, 110448588], [110451444, 110451620], [110452540, 110452678], [110453794, 110453899], [110454748, 110454841], [110459648, 110459752], [110460716, 110460831]]
ENST00000399100 [[110354968, 110355158], [110384056, 110384800], [110394159, 110394342], [110412482, 110412563], [110415770, 110416012], [110427483, 110427668], [110431164, 110431267], [110433112, 110433239], [110434902, 110435012], [110437683, 110437796], [110441521, 110441640], [110442272, 110442328], [110442575, 110442782], [110445973, 110446097], [110446501, 110446660], [110447381, 110447555], [110448477, 110448588], [110451444, 110451620], [110452540, 110452678], [110453794, 110453899], [110454748, 110454841], [110459648, 110459752], [110460716, 110460852]] [[110355025, 110355158], [110384056, 110384800], [110394159, 110394342], [110412482, 110412563], [110415770, 110416012], [110427483, 110427668], [110431164, 110431267], [110433112, 110433239], [110434902, 110435012], [110437683, 110437796], [110441521, 110441640], [110442272, 110442328], [110442575, 110442782], [110445973, 110446097], [110446501, 110446660], [110447381, 110447555], [110448477, 110448588], [110451444, 110451620], [110452540, 110452678], [110453794, 110453899], [110454748, 110454841], [110459648, 110459752], [110460716, 110460831]]
ENST00000265175 [[110354970, 110355158], [110384056, 110384800], [110394159, 110394342], [110402832, 110402937], [110412482, 110412563], [110415770, 110416012], [110427483, 110427668], [110431164, 110431267], [110433112, 110433239], [110434902, 110435012], [110437683, 110437796], [110441521, 110441640], [110442272, 110442328], [110442575, 110442782], [110445973, 110446097], [110446501, 110446660], [110447381, 110447555], [110448477, 110448588], [110451444, 110451620], [110452540, 110452678], [110453794, 110453899], [110454748, 110454841], [110459648, 110459752], [110460716, 110462052]] [[110355025, 110355158], [110384056, 110384800], [110394159, 110394342], [110402832, 110402937], [110412482, 110412563], [110415770, 110416012], [110427483, 110427668], [110431164, 110431267], [110433112, 110433239], [110434902, 110435012], [110437683, 110437796], [110441521, 110441640], [110442272, 110442328], [110442575, 110442782], [110445973, 110446097], [110446501, 110446660], [110447381, 110447555], [110448477, 110448588], [110451444, 110451620], [110452540, 110452678], [110453794, 110453899], [110454748, 110454841], [110459648, 110459752], [110460716, 110460831]]
NM_001318086 [[110354870, 110355158], [110384056, 110384800], [110394159, 110394342], [110412482, 110412563], [110415770, 110416012], [110427486, 110427668], [110431164, 110431267], [110433112, 110433239], [110434902, 110435012], [110437683, 110437796], [110441521, 110441640], [110442272, 110442328], [110442575, 110442782], [110445973, 110446097], [110446501, 110446660], [110447381, 110447555], [110448477, 110448588], [110451444, 110451620], [110452540, 110452678], [110453794, 110453899], [110454748, 110454841], [110459648, 110459752], [110460716, 110461615]] [[110355025, 110355158], [110384056, 110384800], [110394159, 110394342], [110412482, 110412563], [110415770, 110416012], [110427486, 110427668], [110431164, 110431267], [110433112, 110433239], [110434902, 110435012], [110437683, 110437796], [110441521, 110441640], [110442272, 110442328], [110442575, 110442782], [110445973, 110446097], [110446501, 110446660], [110447381, 110447555], [110448477, 110448588], [110451444, 110451620], [110452540, 110452678], [110453794, 110453899], [110454748, 110454841], [110459648, 110459752], [110460716, 110460831]]
NM_001042734 [[110354870, 110355158], [110384056, 110384800], [110394159, 110394342], [110412482, 110412563], [110415770, 110416012], [110427483, 110427668], [110431164, 110431267], [110433112, 110433239], [110434902, 110435012], [110437683, 110437796], [110441521, 110441640], [110442272, 110442328], [110442575, 110442782], [110445973, 110446097], [110446501, 110446660], [110447381, 110447555], [110448477, 110448588], [110451444, 110451620], [110452540, 110452678], [110453794, 110453899], [110454748, 110454841], [110459648, 110459752], [110460716, 110461615]] [[110355025, 110355158], [110384056, 110384800], [110394159, 110394342], [110412482, 110412563], [110415770, 110416012], [110427483, 110427668], [110431164, 110431267], [110433112, 110433239], [110434902, 110435012], [110437683, 110437796], [110441521, 110441640], [110442272, 110442328], [110442575, 110442782], [110445973, 110446097], [110446501, 110446660], [110447381, 110447555], [110448477, 110448588], [110451444, 110451620], [110452540, 110452678], [110453794, 110453899], [110454748, 110454841], [110459648, 110459752], [110460716, 110460831]]
NM_001318085 [[110354870, 110355158], [110384056, 110384800], [110394159, 110394342], [110402832, 110402937], [110412482, 110412563], [110415770, 110416012], [110427486, 110427668], [110431164, 110431267], [110433112, 110433239], [110434902, 110435012], [110437683, 110437796], [110441521, 110441640], [110442272, 110442328], [110442575, 110442782], [110445973, 110446097], [110446501, 110446660], [110447381, 110447555], [110448477, 110448588], [110451444, 110451620], [110452540, 110452678], [110453794, 110453899], [110454748, 110454841], [110459648, 110459752], [110460716, 110461615]] [[110355025, 110355158], [110384056, 110384800], [110394159, 110394342], [110402832, 110402937], [110412482, 110412563], [110415770, 110416012], [110427486, 110427668], [110431164, 110431267], [110433112, 110433239], [110434902, 110435012], [110437683, 110437796], [110441521, 110441640], [110442272, 110442328], [110442575, 110442782], [110445973, 110446097], [110446501, 110446660], [110447381, 110447555], [110448477, 110448588], [110451444, 110451620], [110452540, 110452678], [110453794, 110453899], [110454748, 110454841], [110459648, 110459752], [110460716, 110460831]]
NM_006323 [[110354870, 110355158], [110384056, 110384800], [110394159, 110394342], [110402832, 110402937], [110412482, 110412563], [110415770, 110416012], [110427483, 110427668], [110431164, 110431267], [110433112, 110433239], [110434902, 110435012], [110437683, 110437796], [110441521, 110441640], [110442272, 110442328], [110442575, 110442782], [110445973, 110446097], [110446501, 110446660], [110447381, 110447555], [110448477, 110448588], [110451444, 110451620], [110452540, 110452678], [110453794, 110453899], [110454748, 110454841], [110459648, 110459752], [110460716, 110461615]] [[110355025, 110355158], [110384056, 110384800], [110394159, 110394342], [110402832, 110402937], [110412482, 110412563], [110415770, 110416012], [110427483, 110427668], [110431164, 110431267], [110433112, 110433239], [110434902, 110435012], [110437683, 110437796], [110441521, 110441640], [110442272, 110442328], [110442575, 110442782], [110445973, 110446097], [110446501, 110446660], [110447381, 110447555], [110448477, 110448588], [110451444, 110451620], [110452540, 110452678], [110453794, 110453899], [110454748, 110454841], [110459648, 110459752], [110460716, 110460831]]
NM_001300813 [[110354870, 110355158], [110370572, 110370665], [110384056, 110384800], [110394159, 110394342], [110402832, 110402937], [110412482, 110412563], [110415770, 110416012], [110427486, 110427668], [110431164, 110431267], [110433112, 110433239], [110434902, 110435012], [110437683, 110437796], [110441521, 110441640], [110442272, 110442328], [110442575, 110442782], [110445973, 110446097], [110446501, 110446660], [110447381, 110447555], [110448477, 110448588], [110451444, 110451620], [110452540, 110452678], [110453794, 110453899], [110454748, 110454841], [110459648, 110459752], [110460716, 110461615]] [[110355025, 110355158], [110370572, 110370665], [110384056, 110384800], [110394159, 110394342], [110402832, 110402937], [110412482, 110412563], [110415770, 110416012], [110427486, 110427668], [110431164, 110431267], [110433112, 110433239], [110434902, 110435012], [110437683, 110437796], [110441521, 110441640], [110442272, 110442328], [110442575, 110442782], [110445973, 110446097], [110446501, 110446660], [110447381, 110447555], [110448477, 110448588], [110451444, 110451620], [110452540, 110452678], [110453794, 110453899], [110454748, 110454841], [110459648, 110459752], [110460716, 110460831]]
Promoter
Chrom Start End Description
chr4 110354960 110355030 CAGE_peak_1_at_SEC24B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I109367 109367983 109369207 0.2 [{'connected_gene': 'COL25A1', 'score': 10.89}, {'connected_gene': 'ZCCHC23', 'score': 10.89}, {'connected_gene': 'SEC24B', 'score': 4.58}, {'connected_gene': 'GC04P109364', 'score': 0.77}, {'connected_gene': 'PIR37678', 'score': 0.31}, {'connected_gene': 'SEC24B-AS1', 'score': 0.2}]
chr4 GH04I110192 110192876 110199852 2.62 [{'connected_gene': 'ELOVL6', 'score': 554.87}, {'connected_gene': 'SEC24B', 'score': 22.52}, {'connected_gene': 'GAR1', 'score': 20.72}, {'connected_gene': 'SETP20', 'score': 18.76}, {'connected_gene': 'CDC42P4', 'score': 13.01}, {'connected_gene': 'CASP6', 'score': 10.05}, {'connected_gene': 'ENSG00000250511', 'score': 9.83}, {'connected_gene': 'ENSG00000248200', 'score': 0.25}]
chr4 GH04I108618 108618932 108623104 2.27 [{'connected_gene': 'RPL34', 'score': 585.64}, {'connected_gene': 'RPL34-AS1', 'score': 559.48}, {'connected_gene': 'PIR53159', 'score': 550.77}, {'connected_gene': 'SETP20', 'score': 34.84}, {'connected_gene': 'SEC24B', 'score': 33.87}, {'connected_gene': 'CDC42P4', 'score': 13.0}, {'connected_gene': 'OSTC', 'score': 9.94}, {'connected_gene': 'GC04P108610', 'score': 0.39}]
chr4 GH04I109424 109424525 109424674 0.63 [{'connected_gene': 'GAR1', 'score': 10.11}, {'connected_gene': 'PLA2G12A', 'score': 9.66}, {'connected_gene': 'LRIT3', 'score': 9.26}, {'connected_gene': 'RBMXP4', 'score': 4.36}, {'connected_gene': 'SEC24B-AS1', 'score': 0.44}, {'connected_gene': 'SEC24B', 'score': 0.44}, {'connected_gene': 'PIR37678', 'score': 0.31}]
chr4 GH04I109814 109814555 109817692 2.05 [{'connected_gene': 'GAR1', 'score': 558.08}, {'connected_gene': 'ENSG00000272795', 'score': 550.77}, {'connected_gene': 'SETP20', 'score': 18.79}, {'connected_gene': 'SEC24B', 'score': 14.02}, {'connected_gene': 'CDC42P4', 'score': 13.04}, {'connected_gene': 'CASP6', 'score': 10.16}, {'connected_gene': 'LRIT3', 'score': 7.71}, {'connected_gene': 'GC04M109825', 'score': 0.44}]
chr4 GH04I109399 109399153 109399440 0.41 [{'connected_gene': 'LRIT3', 'score': 6.36}, {'connected_gene': 'PIR37678', 'score': 0.77}, {'connected_gene': 'SEC24B-AS1', 'score': 0.29}, {'connected_gene': 'SEC24B', 'score': 0.29}]
chr4 GH04I109548 109548081 109549518 0.93 [{'connected_gene': 'CFI', 'score': 10.51}, {'connected_gene': 'MCUB', 'score': 7.78}, {'connected_gene': 'RBMXP4', 'score': 7.17}, {'connected_gene': 'SEC24B', 'score': 1.45}, {'connected_gene': 'SETP20', 'score': 0.44}, {'connected_gene': 'MIR576', 'score': 0.21}]
chr4 GH04I109419 109419120 109420418 0.59 [{'connected_gene': 'CFI', 'score': 10.71}, {'connected_gene': 'RBMXP4', 'score': 4.48}, {'connected_gene': 'SEC24B-AS1', 'score': 0.39}, {'connected_gene': 'SEC24B', 'score': 0.39}, {'connected_gene': 'PIR37678', 'score': 0.34}]
chr4 GH04I108649 108649640 108652201 2.01 [{'connected_gene': 'RNU6-431P', 'score': 550.77}, {'connected_gene': 'GC04P108653', 'score': 550.77}, {'connected_gene': 'OSTC', 'score': 550.77}, {'connected_gene': 'SETP20', 'score': 11.0}, {'connected_gene': 'SEC24B', 'score': 10.96}, {'connected_gene': 'CDC42P4', 'score': 10.32}]
chr4 GH04I109453 109453165 109453374 0.46 [{'connected_gene': 'RN7SL55P', 'score': 0.77}, {'connected_gene': 'SEC24B', 'score': 0.37}, {'connected_gene': 'GC04P109476', 'score': 0.34}]
chr4 GH04I109528 109528389 109528566 0.28 [{'connected_gene': 'SEC24B', 'score': 1.46}, {'connected_gene': 'SETP20', 'score': 0.31}, {'connected_gene': 'MIR576', 'score': 0.28}]
chr4 GH04I109436 109436601 109436800 0.43 [{'connected_gene': 'SEC24B', 'score': 5.77}, {'connected_gene': 'SEC24B-AS1', 'score': 0.77}, {'connected_gene': 'RN7SL55P', 'score': 0.39}]
chr4 GH04I109432 109432175 109435929 2 [{'connected_gene': 'SEC24B', 'score': 555.14}, {'connected_gene': 'SEC24B-AS1', 'score': 550.77}, {'connected_gene': 'RBMXP4', 'score': 11.71}, {'connected_gene': 'CFI', 'score': 10.57}, {'connected_gene': 'RN7SL55P', 'score': 0.37}]
chr4 GH04I109422 109422382 109423000 0.99 [{'connected_gene': 'SEC24B', 'score': 16.29}, {'connected_gene': 'CDC42P4', 'score': 13.45}, {'connected_gene': 'SETP20', 'score': 11.83}, {'connected_gene': 'CASP6', 'score': 10.2}, {'connected_gene': 'GAR1', 'score': 10.11}, {'connected_gene': 'OSTC', 'score': 9.9}, {'connected_gene': 'PLA2G12A', 'score': 9.66}, {'connected_gene': 'LRIT3', 'score': 9.25}, {'connected_gene': 'SEC24B-AS1', 'score': 0.39}, {'connected_gene': 'PIR37678', 'score': 0.31}]
chr4 GH04I109471 109471884 109473134 0.74 [{'connected_gene': 'RBMXP4', 'score': 7.44}, {'connected_gene': 'GC04P109476', 'score': 0.77}, {'connected_gene': 'RN7SL55P', 'score': 0.34}, {'connected_gene': 'SEC24B', 'score': 0.28}]
chr4 GH04I109440 109440207 109443222 0.77 [{'connected_gene': 'RBMXP4', 'score': 7.87}, {'connected_gene': 'SEC24B', 'score': 5.6}, {'connected_gene': 'RN7SL55P', 'score': 0.44}, {'connected_gene': 'SEC24B-AS1', 'score': 0.44}]
chr4 GH04I109411 109411974 109413300 0.54 [{'connected_gene': 'RBMXP4', 'score': 11.43}, {'connected_gene': 'PIR37678', 'score': 0.37}, {'connected_gene': 'SEC24B-AS1', 'score': 0.34}, {'connected_gene': 'SEC24B', 'score': 0.34}]
chr4 GH04I109559 109559145 109561888 1.98 [{'connected_gene': 'GC04M109557', 'score': 550.77}, {'connected_gene': 'MCUB', 'score': 550.77}, {'connected_gene': 'SEC24B-AS1', 'score': 16.5}, {'connected_gene': 'SEC24B', 'score': 14.71}, {'connected_gene': 'SETP20', 'score': 11.41}, {'connected_gene': 'CDC42P4', 'score': 10.73}, {'connected_gene': 'PIR49237', 'score': 0.77}]

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