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
NM_024644 [[73957638, 73957980], [73957982, 73960105]] [[73957722, 73957980], [73957982, 73959647]]
Promoter
Chrom Start End Description
chr14 73957631 73957708 CAGE_peak_1_at_C14orf169_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I073748 73748908 73766343 2.62 [{'connected_gene': 'ELMSAN1', 'score': 597.03}, {'connected_gene': 'GC14P073756', 'score': 550.77}, {'connected_gene': 'MIR4505', 'score': 550.77}, {'connected_gene': 'ZNF410', 'score': 33.38}, {'connected_gene': 'PNMA1', 'score': 24.22}, {'connected_gene': 'RBM25', 'score': 16.17}, {'connected_gene': 'LOC100506476', 'score': 15.43}, {'connected_gene': 'NUMB', 'score': 11.82}, {'connected_gene': 'FCF1', 'score': 11.53}, {'connected_gene': 'PTGR2', 'score': 11.4}, {'connected_gene': 'ENSG00000223300', 'score': 11.39}, {'connected_gene': 'LOC100420966', 'score': 10.28}, {'connected_gene': 'DCAF4', 'score': 9.86}, {'connected_gene': 'DNAL1', 'score': 8.41}, {'connected_gene': 'ACOT1', 'score': 8.34}, {'connected_gene': 'ENSG00000258944', 'score': 5.79}, {'connected_gene': 'NT5CP2', 'score': 4.68}, {'connected_gene': 'RIOX1', 'score': 3.99}, {'connected_gene': 'COQ6', 'score': 2.29}, {'connected_gene': 'GC14M073765', 'score': 0.37}]
chr14 GH14I073464 73464488 73469912 1.38 [{'connected_gene': 'NUMB', 'score': 38.65}, {'connected_gene': 'PSEN1', 'score': 23.63}, {'connected_gene': 'ACOT1', 'score': 12.1}, {'connected_gene': 'HEATR4', 'score': 6.21}, {'connected_gene': 'LOC101928123', 'score': 5.02}, {'connected_gene': 'ENSG00000258695', 'score': 4.85}, {'connected_gene': 'DCAF4', 'score': 4.7}, {'connected_gene': 'ZNF410', 'score': 4.1}, {'connected_gene': 'ZFYVE1', 'score': 3.21}, {'connected_gene': 'RBM25', 'score': 2.18}, {'connected_gene': 'ELMSAN1', 'score': 2.17}, {'connected_gene': 'GC14M073418', 'score': 0.77}, {'connected_gene': 'ENSG00000251393', 'score': 0.77}, {'connected_gene': 'RIOX1', 'score': 0.34}]
chr14 GH14I073477 73477400 73478768 1.22 [{'connected_gene': 'NUMB', 'score': 9.76}, {'connected_gene': 'LOC100506476', 'score': 5.5}, {'connected_gene': 'DNAL1', 'score': 4.88}, {'connected_gene': 'RIOX1', 'score': 0.39}, {'connected_gene': 'GC14M073418', 'score': 0.39}, {'connected_gene': 'HEATR4', 'score': 0.18}]
chr14 GH14I073489 73489876 73490065 0.38 [{'connected_gene': 'RIOX1', 'score': 550.77}, {'connected_gene': 'GC14P073495', 'score': 550.77}, {'connected_gene': 'PIR46009', 'score': 550.77}, {'connected_gene': 'GC14M073418', 'score': 0.31}, {'connected_gene': 'HEATR4', 'score': 0.2}]
chr14 GH14I073485 73485228 73485380 0.22 [{'connected_gene': 'RIOX1', 'score': 0.44}, {'connected_gene': 'GC14M073418', 'score': 0.34}, {'connected_gene': 'HEATR4', 'score': 0.19}]
chr14 GH14I073476 73476193 73476998 0.38 [{'connected_gene': 'ACOT1', 'score': 10.87}, {'connected_gene': 'NUMB', 'score': 10.22}, {'connected_gene': 'HEATR4', 'score': 6.63}, {'connected_gene': 'RIOX1', 'score': 0.39}, {'connected_gene': 'GC14M073418', 'score': 0.39}, {'connected_gene': 'ENSG00000251393', 'score': 0.39}]
chr14 GH14I073490 73490136 73492665 2.04 [{'connected_gene': 'ACOT1', 'score': 566.02}, {'connected_gene': 'RIOX1', 'score': 550.77}, {'connected_gene': 'GC14P073495', 'score': 550.77}, {'connected_gene': 'PIR46009', 'score': 550.77}, {'connected_gene': 'ENSG00000258695', 'score': 6.65}, {'connected_gene': 'NUMB', 'score': 4.52}, {'connected_gene': 'HEATR4', 'score': 0.2}]
chr14 GH14I073472 73472001 73472401 0.97 [{'connected_gene': 'ACOT1', 'score': 11.12}, {'connected_gene': 'GC14M073418', 'score': 0.44}, {'connected_gene': 'ENSG00000251393', 'score': 0.44}, {'connected_gene': 'RIOX1', 'score': 0.37}]
chr14 GH14I073226 73226179 73229442 1.15 [{'connected_gene': 'GC14P073229', 'score': 550.77}, {'connected_gene': 'PIR53719', 'score': 550.77}, {'connected_gene': 'PSEN1', 'score': 11.66}, {'connected_gene': 'LOC101928123', 'score': 8.18}, {'connected_gene': 'NUMB', 'score': 8.03}, {'connected_gene': 'DPF3', 'score': 4.24}, {'connected_gene': 'ZFYVE1', 'score': 2.68}, {'connected_gene': 'RIOX1', 'score': 1.4}, {'connected_gene': 'GC14P073223', 'score': 0.44}]
chr14 GH14I073767 73767602 73775476 1.72 [{'connected_gene': 'ENSG00000258559', 'score': 50.22}, {'connected_gene': 'YLPM1', 'score': 47.91}, {'connected_gene': 'RBM25', 'score': 33.53}, {'connected_gene': 'NT5CP1', 'score': 32.66}, {'connected_gene': 'PNMA1', 'score': 21.3}, {'connected_gene': 'PTGR2', 'score': 16.45}, {'connected_gene': 'LOC100506476', 'score': 15.43}, {'connected_gene': 'LIN52', 'score': 14.46}, {'connected_gene': 'DNAL1', 'score': 12.33}, {'connected_gene': 'ABCD4', 'score': 11.82}, {'connected_gene': 'ENSG00000223300', 'score': 11.03}, {'connected_gene': 'ENSG00000258443', 'score': 10.02}, {'connected_gene': 'FAM161B', 'score': 9.96}, {'connected_gene': 'ELMSAN1', 'score': 8.92}, {'connected_gene': 'LINC02274', 'score': 8.49}, {'connected_gene': 'ACOT1', 'score': 5.12}, {'connected_gene': 'ENTPD5', 'score': 4.46}, {'connected_gene': 'RIOX1', 'score': 3.09}, {'connected_gene': 'ZNF410', 'score': 2.27}, {'connected_gene': 'COQ6', 'score': 1.93}, {'connected_gene': 'GC14M073765', 'score': 0.44}, {'connected_gene': 'MIR4505', 'score': 0.39}]