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
ENST00000515820 [[85413139, 85414702], [85416824, 85416997], [85417645, 85418103]] [[85414441, 85414702], [85416824, 85416845]]
ENST00000295886 [[85413139, 85414702], [85416824, 85416997], [85418711, 85419603]] [[85414441, 85414702], [85416824, 85416997], [85418711, 85419381]]
NM_006168 [[85414435, 85414702], [85416824, 85416997], [85418711, 85419387]] [[85414441, 85414702], [85416824, 85416997], [85418711, 85419381]]
Promoter
Chrom Start End Description
chr4 85419242 85419289 CAGE_peak_4_at_NKX6-1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I083640 83640008 83640157 0.74 [{'connected_gene': 'GPAT3', 'score': 12.37}, {'connected_gene': 'ABRAXAS1', 'score': 11.92}, {'connected_gene': 'NKX6-1', 'score': 9.75}, {'connected_gene': 'GC04M083639', 'score': 0.77}, {'connected_gene': 'ENSG00000201633', 'score': 0.77}, {'connected_gene': 'GC04M083654', 'score': 0.34}]
chr4 GH04I084499 84499428 84499597 0.92 [{'connected_gene': 'NKX6-1', 'score': 550.77}, {'connected_gene': 'RPL3P13', 'score': 0.25}]
chr4 GH04I084500 84499728 84499877 0.76 [{'connected_gene': 'NKX6-1', 'score': 550.77}, {'connected_gene': 'RPL3P13', 'score': 0.26}]
chr4 GH04I084479 84479609 84480462 0.46 [{'connected_gene': 'NKX6-1', 'score': 4.77}, {'connected_gene': 'GC04P084474', 'score': 0.44}, {'connected_gene': 'GC04P084495', 'score': 0.37}]
chr4 GH04I084480 84480853 84482173 0.38 [{'connected_gene': 'NKX6-1', 'score': 5.25}, {'connected_gene': 'GC04P084474', 'score': 0.44}, {'connected_gene': 'GC04P084495', 'score': 0.39}]
chr4 GH04I084498 84498335 84499217 1.45 [{'connected_gene': 'NKX6-1', 'score': 557.23}, {'connected_gene': 'GC04P084495', 'score': 0.77}]
chr4 GH04I084531 84531082 84532177 0.66 [{'connected_gene': 'CDS1', 'score': 16.59}, {'connected_gene': 'NKX6-1', 'score': 11.02}, {'connected_gene': 'WDFY3-AS2', 'score': 5.23}, {'connected_gene': 'RPL3P13', 'score': 0.39}, {'connected_gene': 'LOC102723338', 'score': 0.23}]
chr4 GH04I084581 84581320 84586898 2.15 [{'connected_gene': 'LOC102723338', 'score': 550.77}, {'connected_gene': 'CDS1', 'score': 550.77}, {'connected_gene': 'NKX6-1', 'score': 9.33}, {'connected_gene': 'WDFY3-AS2', 'score': 5.63}, {'connected_gene': 'PIR31866', 'score': 0.19}]
chr4 GH04I084492 84492004 84494313 0.56 [{'connected_gene': 'GC04P084495', 'score': 550.77}, {'connected_gene': 'ABRAXAS1', 'score': 10.26}, {'connected_gene': 'NKX6-1', 'score': 7.8}, {'connected_gene': 'GC04P084474', 'score': 0.37}]