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
ENST00000258424 [[98262502, 98262652], [98263529, 98263603], [98263806, 98263906], [98264458, 98264846]] [[98262549, 98262652], [98263529, 98263603], [98263806, 98263906], [98264458, 98264571]]
ENST00000464949 [[98262559, 98262652], [98262979, 98263129], [98263529, 98263603], [98263806, 98263906], [98264458, 98264654]] None
ENST00000491989 [[98262751, 98262854], [98262979, 98263129], [98263529, 98263603], [98263806, 98263906], [98264458, 98264642]] None
ENST00000494306 [[98262903, 98263603], [98263806, 98263844]] None
NM_001862 [[98262520, 98262652], [98263529, 98263603], [98263806, 98263906], [98264458, 98264657]] [[98262549, 98262652], [98263529, 98263603], [98263806, 98263906], [98264458, 98264571]]
Promoter
Chrom Start End Description
chr2 98262497 98262549 CAGE_peak_1_at_COX5B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I097712 97712403 97720047 2.07 [{'connected_gene': 'ZAP70', 'score': 588.02}, {'connected_gene': 'ANKRD36B', 'score': 24.23}, {'connected_gene': 'LMAN2L', 'score': 16.66}, {'connected_gene': 'UNC50', 'score': 15.92}, {'connected_gene': 'ACTR1B', 'score': 14.15}, {'connected_gene': 'ANKRD36', 'score': 13.08}, {'connected_gene': 'CNNM3', 'score': 11.55}, {'connected_gene': 'SEMA4C', 'score': 10.54}, {'connected_gene': 'TMEM131', 'score': 9.76}, {'connected_gene': 'FAHD2B', 'score': 7.66}, {'connected_gene': 'C2orf92', 'score': 6.92}, {'connected_gene': 'COX5B', 'score': 4.93}, {'connected_gene': 'ENSG00000235833', 'score': 4.09}, {'connected_gene': 'HMGN1P36', 'score': 0.14}]
chr2 GH02I097723 97723874 97723933 0.7 [{'connected_gene': 'ZAP70', 'score': 550.39}, {'connected_gene': 'ANKRD36B', 'score': 13.32}, {'connected_gene': 'COX5B', 'score': 10.99}, {'connected_gene': 'RNU4-8P', 'score': 10.64}, {'connected_gene': 'ACTR1B', 'score': 10.64}, {'connected_gene': 'C2orf92', 'score': 10.64}, {'connected_gene': 'HMGN1P36', 'score': 0.15}]
chr2 GH02I097730 97730139 97732728 0.31 [{'connected_gene': 'C2orf92', 'score': 17.05}, {'connected_gene': 'RNU4-8P', 'score': 10.83}, {'connected_gene': 'ACTR1B', 'score': 10.83}, {'connected_gene': 'COX5B', 'score': 10.52}, {'connected_gene': 'ZAP70', 'score': 0.37}, {'connected_gene': 'HMGN1P36', 'score': 0.15}]
chr2 GH02I097588 97588600 97591567 1.97 [{'connected_gene': 'ANKRD36B', 'score': 597.48}, {'connected_gene': 'COX5B', 'score': 12.25}, {'connected_gene': 'RNU4-8P', 'score': 12.07}, {'connected_gene': 'ACTR1B', 'score': 12.07}, {'connected_gene': 'C2orf92', 'score': 12.07}, {'connected_gene': 'ZAP70', 'score': 12.0}, {'connected_gene': 'PIR49158', 'score': 0.44}]
chr2 GH02I098451 98451975 98462212 1.59 [{'connected_gene': 'INPP4A', 'score': 16.92}, {'connected_gene': 'MGAT4A', 'score': 9.34}, {'connected_gene': 'LOC101927070', 'score': 5.14}, {'connected_gene': 'COX5B', 'score': 4.02}, {'connected_gene': 'TMEM131', 'score': 2.8}, {'connected_gene': 'PIR47012', 'score': 0.29}]
chr2 GH02I096947 96947240 96948641 0.56 [{'connected_gene': 'FAHD2B', 'score': 12.51}, {'connected_gene': 'GPAT2P2', 'score': 5.42}, {'connected_gene': 'COX5B', 'score': 3.85}, {'connected_gene': 'RNA5SP101', 'score': 0.44}, {'connected_gene': 'ENSG00000274206', 'score': 0.44}, {'connected_gene': 'FAM178B', 'score': 0.28}]
chr2 GH02I097720 97720666 97721462 0.4 [{'connected_gene': 'COX5B', 'score': 10.87}, {'connected_gene': 'RNU4-8P', 'score': 10.6}, {'connected_gene': 'ACTR1B', 'score': 10.6}, {'connected_gene': 'C2orf92', 'score': 10.6}, {'connected_gene': 'ZAP70', 'score': 0.44}, {'connected_gene': 'HMGN1P36', 'score': 0.14}]
chr2 GH02I097644 97644775 97647542 2.22 [{'connected_gene': 'COX5B', 'score': 550.77}, {'connected_gene': 'PIR38581', 'score': 550.77}, {'connected_gene': 'ACTR1B', 'score': 31.82}, {'connected_gene': 'TMEM131', 'score': 20.32}, {'connected_gene': 'UNC50', 'score': 9.75}, {'connected_gene': 'LOC100506123', 'score': 7.8}, {'connected_gene': 'ANKRD36', 'score': 5.49}, {'connected_gene': 'C2orf92', 'score': 5.4}]
chr2 GH02I097725 97725336 97728887 1.08 [{'connected_gene': 'ACTR1B', 'score': 19.98}, {'connected_gene': 'C2orf92', 'score': 16.63}, {'connected_gene': 'COX5B', 'score': 10.99}, {'connected_gene': 'RNU4-8P', 'score': 10.83}, {'connected_gene': 'ANKRD36B', 'score': 9.52}, {'connected_gene': 'LOC100506123', 'score': 5.08}, {'connected_gene': 'ZAP70', 'score': 0.39}, {'connected_gene': 'HMGN1P36', 'score': 0.15}]
chr2 GH02I097673 97673121 97674379 1.26 [{'connected_gene': 'PIR32897', 'score': 550.77}, {'connected_gene': 'ANKRD36B', 'score': 33.25}, {'connected_gene': 'COX5B', 'score': 12.56}, {'connected_gene': 'ZAP70', 'score': 11.99}, {'connected_gene': 'FAHD2B', 'score': 7.47}, {'connected_gene': 'TMEM131', 'score': 2.2}, {'connected_gene': 'RNU4-8P', 'score': 0.44}, {'connected_gene': 'C2orf92', 'score': 0.44}]
chr2 GH02I097675 97675838 97675987 0.2 [{'connected_gene': 'PIR53529', 'score': 550.77}, {'connected_gene': 'PIR32897', 'score': 550.77}, {'connected_gene': 'COX5B', 'score': 12.38}, {'connected_gene': 'ZAP70', 'score': 11.99}, {'connected_gene': 'C2orf92', 'score': 0.39}]