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
ENST00000267584 [[96858447, 96858596], [96864411, 96864600], [96871093, 96871202], [96875183, 96875278], [96887158, 96887269], [96904171, 96904252], [96909066, 96909155], [96912853, 96912944], [96916138, 96916216], [96917757, 96917907], [96922683, 96922812], [96924419, 96924549], [96937814, 96937943], [96939023, 96939092], [96944801, 96944999], [96949335, 96949556], [96953234, 96953393], [96954641, 96955764]] [[96858491, 96858596], [96864411, 96864600], [96871093, 96871202], [96875183, 96875278], [96887158, 96887269], [96904171, 96904252], [96909066, 96909155], [96912853, 96912944], [96916138, 96916216], [96917757, 96917907], [96922683, 96922812], [96924419, 96924549], [96937814, 96937943], [96939023, 96939092], [96944801, 96944999], [96949335, 96949556], [96953234, 96953393], [96954641, 96954680]]
ENST00000555570 [[96858469, 96858596], [96864411, 96865629]] [[96858491, 96858596], [96864411, 96864630]]
ENST00000556643 [[96858480, 96858596], [96864411, 96864600], [96871093, 96871389]] None
ENST00000554313 [[96864534, 96864600], [96871093, 96871202], [96875183, 96875278], [96887158, 96887269], [96887753, 96887903]] None
ENST00000554706 [[96949318, 96949556], [96953234, 96953393], [96954294, 96954612]] [[96949318, 96949556], [96953234, 96953393], [96954294, 96954354]]
NM_152327 [[96858447, 96858596], [96864411, 96864600], [96871093, 96871202], [96875183, 96875278], [96887158, 96887269], [96904171, 96904252], [96909066, 96909155], [96912853, 96912944], [96916138, 96916216], [96917757, 96917907], [96922683, 96922812], [96924419, 96924549], [96937814, 96937943], [96939023, 96939092], [96944801, 96944999], [96949335, 96949556], [96953234, 96953393], [96954641, 96955764]] [[96858491, 96858596], [96864411, 96864600], [96871093, 96871202], [96875183, 96875278], [96887158, 96887269], [96904171, 96904252], [96909066, 96909155], [96912853, 96912944], [96916138, 96916216], [96917757, 96917907], [96922683, 96922812], [96924419, 96924549], [96937814, 96937943], [96939023, 96939092], [96944801, 96944999], [96949335, 96949556], [96953234, 96953393], [96954641, 96954680]]
Promoter
Chrom Start End Description
chr14 96858433 96858453 CAGE_peak_2_at_AK7_5end
chr14 96858454 96858492 CAGE_peak_1_at_AK7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I096467 96467510 96469560 0.69 [{'connected_gene': 'GSKIP', 'score': 4.5}, {'connected_gene': 'RPL23AP10', 'score': 0.39}, {'connected_gene': 'PAPOLA', 'score': 0.29}, {'connected_gene': 'AK7', 'score': 0.18}]
chr14 GH14I096424 96424000 96424673 1.24 [{'connected_gene': 'PEBP1P1', 'score': 557.27}, {'connected_gene': 'GC14M096423', 'score': 550.77}, {'connected_gene': 'RNU2-33P', 'score': 11.09}, {'connected_gene': 'AK7', 'score': 11.09}, {'connected_gene': 'GSKIP', 'score': 11.02}, {'connected_gene': 'GC14M096457', 'score': 0.29}]
chr14 GH14I096390 96390952 96393000 1.97 [{'connected_gene': 'AK7', 'score': 550.77}, {'connected_gene': 'GSKIP', 'score': 15.68}, {'connected_gene': 'RNU2-33P', 'score': 0.44}]
chr14 GH14I096350 96349352 96349628 0.31 [{'connected_gene': 'AK7', 'score': 11.82}, {'connected_gene': 'RNU2-33P', 'score': 10.59}, {'connected_gene': 'GSKIP', 'score': 10.55}, {'connected_gene': 'ATG2B', 'score': 0.39}, {'connected_gene': 'ENSG00000258729', 'score': 0.19}]
chr14 GH14I096349 96349784 96349973 0.31 [{'connected_gene': 'AK7', 'score': 11.82}, {'connected_gene': 'RNU2-33P', 'score': 10.61}, {'connected_gene': 'GSKIP', 'score': 0.39}, {'connected_gene': 'ATG2B', 'score': 0.39}, {'connected_gene': 'ENSG00000258729', 'score': 0.19}]
chr14 GH14I096460 96460575 96463476 0.92 [{'connected_gene': 'PAPOLA', 'score': 10.95}, {'connected_gene': 'ATG2B', 'score': 10.01}, {'connected_gene': 'GSKIP', 'score': 4.43}, {'connected_gene': 'RPL23AP10', 'score': 0.77}, {'connected_gene': 'AK7', 'score': 0.2}]
chr14 GH14I096479 96479604 96479753 0.38 [{'connected_gene': 'PAPOLA', 'score': 12.0}, {'connected_gene': 'RPL23AP10', 'score': 0.34}, {'connected_gene': 'AK7', 'score': 0.17}]
chr14 GH14I096445 96445823 96446500 0.65 [{'connected_gene': 'PAPOLA', 'score': 11.02}, {'connected_gene': 'RNU2-33P', 'score': 10.03}, {'connected_gene': 'GSKIP', 'score': 9.99}, {'connected_gene': 'GC14M096457', 'score': 0.39}, {'connected_gene': 'PEBP1P1', 'score': 0.34}, {'connected_gene': 'AK7', 'score': 0.23}]
chr14 GH14I096409 96409784 96409953 0.62 [{'connected_gene': 'RNU2-33P', 'score': 11.69}, {'connected_gene': 'GSKIP', 'score': 11.62}, {'connected_gene': 'PAPOLA', 'score': 10.64}, {'connected_gene': 'GC14M096423', 'score': 0.39}, {'connected_gene': 'AK7', 'score': 0.37}]