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
ENST00000552377 [[82617459, 82617473], [82702029, 82702094], [82750738, 82751048], [82752001, 82752175]] [[82617459, 82617473], [82702029, 82702094], [82750738, 82751048], [82752001, 82752155]]
ENST00000256151 [[82746084, 82747091], [82748273, 82748373], [82750738, 82751048], [82752001, 82752567]] [[82746929, 82747091], [82748273, 82748373], [82750738, 82751048], [82752001, 82752155]]
ENST00000550589 [[82746617, 82747091], [82748273, 82749900]] None
ENST00000548126 [[82746625, 82747091], [82748273, 82748373], [82750738, 82751048], [82752457, 82752565]] None
ENST00000547758 [[82750622, 82751048], [82752457, 82752584]] None
ENST00000552606 [[82750635, 82751048], [82752001, 82752188]] None
ENST00000552412 [[82750893, 82751110], [82752001, 82752071]] None
NM_014167 [[82746082, 82747091], [82748273, 82748373], [82750738, 82751048], [82752001, 82752199]] [[82746929, 82747091], [82748273, 82748373], [82750738, 82751048], [82752001, 82752155]]
NR_033192 [[82746082, 82747091], [82748273, 82748373], [82750738, 82751048], [82752457, 82752584]] None
Promoter
Chrom Start End Description
chr12 82752159 82752193 CAGE_peak_1_at_CCDC59_5end
chr12 82752523 82752564 CAGE_peak_2_at_CCDC59_5end
chr12 82752565 82752579 CAGE_peak_3_at_CCDC59_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I081942 81942197 81943043 1.12 [{'connected_gene': 'PPFIA2', 'score': 4.85}, {'connected_gene': 'CCDC59', 'score': 1.56}, {'connected_gene': 'LINC02426', 'score': 0.39}, {'connected_gene': 'VN1R57P', 'score': 0.19}]
chr12 GH12I081955 81955561 81956121 0.7 [{'connected_gene': 'PPFIA2', 'score': 5.32}, {'connected_gene': 'CCDC59', 'score': 1.3}, {'connected_gene': 'LINC02426', 'score': 0.77}, {'connected_gene': 'ENSG00000258193', 'score': 0.26}]
chr12 GH12I081949 81949542 81950400 0.57 [{'connected_gene': 'PPFIA2', 'score': 5.32}, {'connected_gene': 'TMTC2', 'score': 4.08}, {'connected_gene': 'CCDC59', 'score': 1.87}, {'connected_gene': 'LINC02426', 'score': 0.77}, {'connected_gene': 'VN1R57P', 'score': 0.18}]
chr12 GH12I082861 82861808 82864714 0.87 [{'connected_gene': 'METTL25', 'score': 13.79}, {'connected_gene': 'CCDC59', 'score': 11.98}, {'connected_gene': 'PIR32311', 'score': 0.28}, {'connected_gene': 'PIR35845', 'score': 0.13}, {'connected_gene': 'TMTC2', 'score': 0.1}]
chr12 GH12I082357 82357059 82359827 2.14 [{'connected_gene': 'METTL25', 'score': 604.83}, {'connected_gene': 'CCDC59', 'score': 599.02}, {'connected_gene': 'PIR52845', 'score': 550.77}, {'connected_gene': 'ENSG00000257431', 'score': 10.47}]
chr12 GH12I081956 81956595 81956909 0.47 [{'connected_gene': 'CCDC59', 'score': 1.13}, {'connected_gene': 'LINC02426', 'score': 0.77}, {'connected_gene': 'ENSG00000258193', 'score': 0.26}]
chr12 GH12I082314 82314428 82314800 0.69 [{'connected_gene': 'LOC105369873', 'score': 0.44}, {'connected_gene': 'METTL25', 'score': 0.26}, {'connected_gene': 'CCDC59', 'score': 0.26}]
chr12 GH12I082329 82329457 82330079 0.43 [{'connected_gene': 'ENSG00000257431', 'score': 16.15}, {'connected_gene': 'LOC105369873', 'score': 0.34}, {'connected_gene': 'METTL25', 'score': 0.31}, {'connected_gene': 'CCDC59', 'score': 0.31}]