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
ENST00000341809 [[53083409, 53085223], [53085721, 53085756], [53086204, 53086425], [53086538, 53086664], [53088409, 53088574], [53089555, 53089651], [53090153, 53090214], [53091465, 53091680], [53096675, 53097247]] [[53084948, 53085223], [53085721, 53085756], [53086204, 53086425], [53086538, 53086664], [53088409, 53088574], [53089555, 53089651], [53090153, 53090214], [53091465, 53091680], [53096675, 53097218]]
ENST00000537195 [[53084587, 53085223], [53085721, 53085756], [53086204, 53086425], [53086538, 53086664], [53088409, 53088574], [53089555, 53089651], [53090153, 53090214], [53091465, 53091680], [53091959, 53092044], [53096675, 53097247]] [[53084948, 53085223], [53085721, 53085756], [53086204, 53086425], [53086538, 53086664], [53088409, 53088574], [53089555, 53089651], [53090153, 53090214], [53091465, 53091524]]
ENST00000553168 [[53084587, 53085223], [53085721, 53085756], [53086204, 53086425], [53086538, 53086664], [53088409, 53088574], [53089555, 53089651], [53090153, 53090214], [53091465, 53091680], [53091959, 53092044], [53096675, 53097247]] [[53091561, 53091680], [53091959, 53092044], [53096675, 53097218]]
ENST00000550823 [[53086611, 53086664], [53088409, 53089136]] None
NM_175078 [[53083409, 53085223], [53085721, 53085756], [53086204, 53086425], [53086538, 53086664], [53088409, 53088574], [53089555, 53089651], [53090153, 53090214], [53091465, 53091680], [53096675, 53097247]] [[53084948, 53085223], [53085721, 53085756], [53086204, 53086425], [53086538, 53086664], [53088409, 53088574], [53089555, 53089651], [53090153, 53090214], [53091465, 53091680], [53096675, 53097218]]
Promoter
Chrom Start End Description
chr12 53097305 53097310 CAGE_peak_1_at_KRT77_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I052867 52867022 52868458 1.09 [{'connected_gene': 'KRT2', 'score': 43.31}, {'connected_gene': 'KRT74', 'score': 11.13}, {'connected_gene': 'KRT79', 'score': 10.87}, {'connected_gene': 'KRT4', 'score': 10.59}, {'connected_gene': 'KRT84', 'score': 10.37}, {'connected_gene': 'KRT8', 'score': 7.39}, {'connected_gene': 'KRT1', 'score': 2.0}, {'connected_gene': 'KRT77', 'score': 1.3}, {'connected_gene': 'RPL7P41', 'score': 0.37}, {'connected_gene': 'KRT78', 'score': 0.37}]
chr12 GH12I052644 52644399 52647459 1.14 [{'connected_gene': 'KRT1', 'score': 11.3}, {'connected_gene': 'KRT77', 'score': 11.16}, {'connected_gene': 'KRT79', 'score': 10.31}, {'connected_gene': 'KRT76', 'score': 10.26}, {'connected_gene': 'KRT4', 'score': 10.26}, {'connected_gene': 'KRT84', 'score': 9.18}, {'connected_gene': 'ENSG00000257700', 'score': 7.47}, {'connected_gene': 'KRT2', 'score': 0.44}, {'connected_gene': 'KRT128P', 'score': 0.39}, {'connected_gene': 'GC12P052549', 'score': 0.15}]
chr12 GH12I052703 52703514 52703573 0.5 [{'connected_gene': 'KRT77', 'score': 550.77}, {'connected_gene': 'KRT126P', 'score': 0.37}]
chr12 GH12I052229 52228477 52228626 0.63 [{'connected_gene': 'KRT77', 'score': 5.0}, {'connected_gene': 'KRT7', 'score': 0.77}, {'connected_gene': 'C12orf80', 'score': 0.39}, {'connected_gene': 'GC12P052156', 'score': 0.19}]
chr12 GH12I052225 52225419 52226234 0.2 [{'connected_gene': 'KRT80', 'score': 11.05}, {'connected_gene': 'KRT86', 'score': 11.0}, {'connected_gene': 'KRT87P', 'score': 10.95}, {'connected_gene': 'KRT83', 'score': 10.63}, {'connected_gene': 'KRT7', 'score': 10.51}, {'connected_gene': 'KRT81', 'score': 10.5}, {'connected_gene': 'KRT77', 'score': 4.71}, {'connected_gene': 'C12orf80', 'score': 0.39}, {'connected_gene': 'GC12P052184', 'score': 0.26}, {'connected_gene': 'GC12P052156', 'score': 0.2}]
chr12 GH12I052689 52689586 52690217 0.31 [{'connected_gene': 'ENSG00000257700', 'score': 0.77}, {'connected_gene': 'KRT1', 'score': 0.44}, {'connected_gene': 'KRT77', 'score': 0.39}]
chr12 GH12I052691 52691001 52691600 0.9 [{'connected_gene': 'ENSG00000257700', 'score': 570.02}, {'connected_gene': 'KRT1', 'score': 7.9}, {'connected_gene': 'KRT77', 'score': 0.39}]