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
ENST00000298119 [[42076772, 42077765], [42236056, 42236232], [42355808, 42357213], [42360452, 42361165], [42368119, 42368163], [42373360, 42373752]] [[42355828, 42357213], [42360452, 42361165], [42368119, 42368163], [42373360, 42373378]]
ENST00000555279 [[42077471, 42077765], [42200539, 42200556], [42202673, 42202835], [42236056, 42236165]] None
ENST00000554120 [[42077617, 42077765], [42236056, 42236232], [42355808, 42357213], [42373360, 42373752]] [[42355828, 42357213], [42373360, 42373373]]
ENST00000554171 [[42168629, 42170749], [42200539, 42200556], [42200974, 42201073], [42236056, 42236232], [42355808, 42357213], [42368119, 42368163], [42373360, 42373752]] [[42355828, 42357213], [42368119, 42368135]]
ENST00000553926 [[42077580, 42077765], [42079311, 42079330]] None
NM_001346175 [[42076058, 42077765], [42355808, 42357213], [42368119, 42368163], [42373360, 42373752]] [[42355828, 42357213], [42368119, 42368135]]
NM_001346173 [[42076058, 42077765], [42355808, 42357213], [42360452, 42361165], [42368119, 42368163], [42373360, 42373752]] [[42355828, 42357213], [42360452, 42361165], [42368119, 42368163], [42373360, 42373378]]
NM_001330106 [[42076058, 42077765], [42236056, 42236232], [42355808, 42357213], [42368119, 42368163], [42373360, 42373752]] [[42355828, 42357213], [42368119, 42368135]]
NM_152447 [[42076058, 42077765], [42236056, 42236232], [42355808, 42357213], [42360452, 42361165], [42368119, 42368163], [42373360, 42373752]] [[42355828, 42357213], [42360452, 42361165], [42368119, 42368163], [42373360, 42373378]]
NR_144388 [[42076058, 42077765], [42236056, 42236232], [42355808, 42357213], [42360452, 42361488], [42368119, 42368163], [42373360, 42373752]] None
NR_144389 [[42076058, 42077765], [42236056, 42236232], [42355808, 42357213], [42357548, 42357740], [42360452, 42361165], [42368119, 42368163], [42373360, 42373752]] None
Promoter
Chrom Start End Description
chr14 42076296 42076329 CAGE_peak_4_at_LRFN5_5end
chr14 42076359 42076374 CAGE_peak_8_at_LRFN5_5end
chr14 42076531 42076545 CAGE_peak_6_at_LRFN5_5end
chr14 42076765 42076789 CAGE_peak_2_at_LRFN5_5end
chr14 42076794 42076821 CAGE_peak_3_at_LRFN5_5end
chr14 42077438 42077542 CAGE_peak_1_at_LRFN5_5end
chr14 42077552 42077570 CAGE_peak_7_at_LRFN5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I041688 41688908 41689219 0.24 [{'connected_gene': 'LRFN5', 'score': 8.28}, {'connected_gene': 'LOC105370469', 'score': 7.49}, {'connected_gene': 'GC14M041694', 'score': 0.44}, {'connected_gene': 'GC14P041642', 'score': 0.25}, {'connected_gene': 'GC14M041630', 'score': 0.05}]
chr14 GH14I041600 41600638 41600787 0.62 [{'connected_gene': 'LRFN5', 'score': 5.24}, {'connected_gene': 'ENSG00000251858', 'score': 0.44}, {'connected_gene': 'LOC105370469', 'score': 0.44}]
chr14 GH14I041862 41862949 41863008 0.5 [{'connected_gene': 'LRFN5', 'score': 550.07}, {'connected_gene': 'GC14M041854', 'score': 0.77}, {'connected_gene': 'GC14P041836', 'score': 0.31}, {'connected_gene': 'GC14M041630', 'score': 0.09}]
chr14 GH14I041830 41830534 41831527 0.43 [{'connected_gene': 'LRFN5', 'score': 4.82}, {'connected_gene': 'GC14P041834', 'score': 0.77}, {'connected_gene': 'GC14M041777', 'score': 0.25}, {'connected_gene': 'GC14M041630', 'score': 0.08}]
chr14 GH14I041610 41610659 41610787 0.54 [{'connected_gene': 'LRFN5', 'score': 2.22}, {'connected_gene': 'GC14P041642', 'score': 0.29}]
chr14 GH14I041743 41743201 41743342 0.22 [{'connected_gene': 'FKBP1BP1', 'score': 550.77}, {'connected_gene': 'LRFN5', 'score': 5.74}, {'connected_gene': 'GC14M041777', 'score': 0.28}, {'connected_gene': 'GC14M041630', 'score': 0.06}]
chr14 GH14I041749 41749038 41749937 0.4 [{'connected_gene': 'FKBP1BP1', 'score': 0.44}, {'connected_gene': 'GC14M041777', 'score': 0.29}, {'connected_gene': 'LRFN5', 'score': 0.11}, {'connected_gene': 'GC14M041630', 'score': 0.06}]
chr14 GH14I041549 41549399 41551061 0.54 [{'connected_gene': 'LOC105370469', 'score': 18.79}, {'connected_gene': 'LRFN5', 'score': 6.62}, {'connected_gene': 'ENSG00000258901', 'score': 0.44}, {'connected_gene': 'ENSG00000279972', 'score': 0.29}]
chr14 GH14I041828 41828385 41828739 0.24 [{'connected_gene': 'LOC105370469', 'score': 5.72}, {'connected_gene': 'LRFN5', 'score': 2.44}, {'connected_gene': 'GC14P041834', 'score': 0.44}, {'connected_gene': 'GC14M041777', 'score': 0.25}, {'connected_gene': 'GC14M041630', 'score': 0.08}]
chr14 GH14I041597 41597318 41598102 0.63 [{'connected_gene': 'LOC105370469', 'score': 23.85}, {'connected_gene': 'LRFN5', 'score': 9.45}, {'connected_gene': 'ENSG00000251858', 'score': 0.77}]
chr14 GH14I041602 41602385 41610587 2.41 [{'connected_gene': 'LOC105370469', 'score': 578.35}, {'connected_gene': 'LRFN5', 'score': 571.01}, {'connected_gene': 'ENSG00000251858', 'score': 0.39}]
chr14 GH14I041871 41871819 41874608 0.31 [{'connected_gene': 'GC14M041854', 'score': 0.44}, {'connected_gene': 'GC14M041908', 'score': 0.28}, {'connected_gene': 'GC14M041630', 'score': 0.09}, {'connected_gene': 'LRFN5', 'score': 0.06}]