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
ENST00000486890 [[19923476, 19923603], [19927280, 19927465], [19948593, 19948641], [19949967, 19950284]] None
ENST00000322753 [[19923483, 19923603], [19948593, 19948641], [19949967, 19950077], [19952880, 19956314]] [[19923539, 19923603], [19948593, 19948641], [19949967, 19950077], [19952880, 19952895]]
ENST00000498067 [[19923484, 19923603], [19924327, 19924689]] None
ENST00000462646 [[19923488, 19923603], [19940994, 19941088], [19948593, 19948641], [19949967, 19950045]] None
ENST00000467029 [[19923494, 19923603], [19943751, 19943830], [19948593, 19948641], [19949967, 19950077], [19952880, 19953117]] None
ENST00000481464 [[19923532, 19923603], [19927280, 19927465], [19948593, 19948641], [19949967, 19950077], [19952880, 19953123]] None
ENST00000498642 [[19923534, 19923603], [19948593, 19948641], [19949967, 19950077], [19951885, 19952126], [19952880, 19953081]] None
ENST00000479642 [[19923545, 19923603], [19927280, 19927798]] None
ENST00000485362 [[19923563, 19923603], [19924327, 19924347], [19948593, 19948641], [19949967, 19950077], [19952880, 19953100]] None
NM_001204082 [[19923470, 19923603], [19949967, 19950077], [19952880, 19956315]] [[19923539, 19923603], [19949967, 19950077], [19952880, 19952895]]
NM_001032363 [[19923470, 19923603], [19948593, 19948641], [19949967, 19950077], [19952880, 19956315]] [[19923539, 19923603], [19948593, 19948641], [19949967, 19950077], [19952880, 19952895]]
NM_001204083 [[19923470, 19923603], [19948593, 19948641], [19949967, 19950077], [19951885, 19952126], [19952880, 19956315]] [[19923539, 19923603], [19948593, 19948641], [19949967, 19950077], [19951885, 19952086]]
NR_033758 [[19923470, 19923603], [19943751, 19943830], [19948593, 19948641], [19949967, 19950077], [19952880, 19956315]] None
NR_033757 [[19923470, 19923603], [19927280, 19927465], [19948593, 19948641], [19949967, 19950077], [19952880, 19956315]] None
Promoter
Chrom Start End Description
chr1 19923454 19923553 CAGE_peak_1_at_MINOS1_5end,CAGE_peak_2_at_NBL1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I019383 19383527 19388146 1.3 [{'connected_gene': 'CAPZB', 'score': 22.87}, {'connected_gene': 'AKR7A2', 'score': 12.61}, {'connected_gene': 'MINOS1', 'score': 11.87}, {'connected_gene': 'LOC105378614', 'score': 11.87}, {'connected_gene': 'RNU4-28P', 'score': 11.13}, {'connected_gene': 'NBL1', 'score': 10.57}, {'connected_gene': 'HTR6', 'score': 10.46}, {'connected_gene': 'PQLC2', 'score': 6.94}, {'connected_gene': 'GC01P019361', 'score': 0.34}, {'connected_gene': 'RN7SL277P', 'score': 0.28}]
chr1 GH01I019609 19608092 19608654 0.2 [{'connected_gene': 'RPS14P3', 'score': 550.77}, {'connected_gene': 'NBL1', 'score': 6.26}, {'connected_gene': 'MINOS1', 'score': 0.39}, {'connected_gene': 'MINOS1-NBL1', 'score': 0.39}]
chr1 GH01I019605 19605940 19606709 0.31 [{'connected_gene': 'RPS14P3', 'score': 550.77}, {'connected_gene': 'NBL1', 'score': 6.23}, {'connected_gene': 'MINOS1', 'score': 0.44}, {'connected_gene': 'MINOS1-NBL1', 'score': 0.44}]
chr1 GH01I019606 19606927 19607076 0.51 [{'connected_gene': 'RPS14P3', 'score': 550.77}, {'connected_gene': 'MINOS1', 'score': 0.39}, {'connected_gene': 'MINOS1-NBL1', 'score': 0.39}]
chr1 GH01I019608 19608030 19608089 0.5 [{'connected_gene': 'RPS14P3', 'score': 550.77}, {'connected_gene': 'MINOS1-NBL1', 'score': 550.39}, {'connected_gene': 'MINOS1', 'score': 0.39}, {'connected_gene': 'NBL1', 'score': 0.29}]
chr1 GH01I019612 19612351 19614396 0.83 [{'connected_gene': 'NBL1', 'score': 6.23}, {'connected_gene': 'AKR7A3', 'score': 5.4}, {'connected_gene': 'AKR7A2', 'score': 4.92}, {'connected_gene': 'RPS14P3', 'score': 0.44}, {'connected_gene': 'MINOS1', 'score': 0.37}, {'connected_gene': 'MINOS1-NBL1', 'score': 0.37}]
chr1 GH01I019622 19622475 19624369 0.83 [{'connected_gene': 'MINOS1', 'score': 13.14}, {'connected_gene': 'LOC105378614', 'score': 13.14}, {'connected_gene': 'RNU4-28P', 'score': 10.27}, {'connected_gene': 'CDA', 'score': 5.29}, {'connected_gene': 'AKR7A2', 'score': 4.92}, {'connected_gene': 'NBL1', 'score': 0.37}, {'connected_gene': 'RPS14P3', 'score': 0.37}, {'connected_gene': 'MINOS1-NBL1', 'score': 0.31}]
chr1 GH01I019388 19388244 19389549 0.31 [{'connected_gene': 'MINOS1', 'score': 11.87}, {'connected_gene': 'LOC105378614', 'score': 11.87}, {'connected_gene': 'RNU4-28P', 'score': 11.13}, {'connected_gene': 'CAPZB', 'score': 8.98}, {'connected_gene': 'PQLC2', 'score': 6.98}, {'connected_gene': 'GC01P019361', 'score': 0.31}, {'connected_gene': 'RN7SL277P', 'score': 0.28}]
chr1 GH01I019621 19621025 19621056 0.2 [{'connected_gene': 'MINOS1', 'score': 13.17}, {'connected_gene': 'LOC105378614', 'score': 13.17}, {'connected_gene': 'RNU4-28P', 'score': 10.27}, {'connected_gene': 'RPS14P3', 'score': 0.39}, {'connected_gene': 'NBL1', 'score': 0.37}, {'connected_gene': 'MINOS1-NBL1', 'score': 0.34}]
chr1 GH01I019619 19619716 19620612 1.26 [{'connected_gene': 'MINOS1', 'score': 13.17}, {'connected_gene': 'LOC105378614', 'score': 13.17}, {'connected_gene': 'RNU4-28P', 'score': 10.28}, {'connected_gene': 'RPS14P3', 'score': 0.39}, {'connected_gene': 'NBL1', 'score': 0.34}, {'connected_gene': 'MINOS1-NBL1', 'score': 0.34}]
chr1 GH01I019623 19621069 19622456 0.2 [{'connected_gene': 'MINOS1', 'score': 13.17}, {'connected_gene': 'LOC105378614', 'score': 13.17}, {'connected_gene': 'RNU4-28P', 'score': 10.27}, {'connected_gene': 'NBL1', 'score': 6.22}, {'connected_gene': 'CDA', 'score': 5.3}, {'connected_gene': 'RPS14P3', 'score': 0.39}, {'connected_gene': 'MINOS1-NBL1', 'score': 0.34}]
chr1 GH01I019595 19595414 19598764 2.29 [{'connected_gene': 'MINOS1', 'score': 550.77}, {'connected_gene': 'GC01P019599', 'score': 550.77}, {'connected_gene': 'LOC105378614', 'score': 550.77}, {'connected_gene': 'MINOS1-NBL1', 'score': 550.77}, {'connected_gene': 'NBL1', 'score': 6.97}, {'connected_gene': 'AKR7A2', 'score': 4.93}, {'connected_gene': 'RPS14P3', 'score': 0.39}]
chr1 GH01I019600 19600317 19600478 0.7 [{'connected_gene': 'TMCO4', 'score': 1.43}, {'connected_gene': 'MINOS1', 'score': 0.77}, {'connected_gene': 'MINOS1-NBL1', 'score': 0.77}, {'connected_gene': 'RPS14P3', 'score': 0.44}]
chr1 GH01I019389 19389839 19394075 1.25 [{'connected_gene': 'LOC105378614', 'score': 11.87}, {'connected_gene': 'MINOS1', 'score': 11.87}, {'connected_gene': 'CAPZB', 'score': 11.85}, {'connected_gene': 'RNU4-28P', 'score': 11.13}, {'connected_gene': 'PQLC2', 'score': 9.6}, {'connected_gene': 'AKR7A2', 'score': 9.55}, {'connected_gene': 'AKR7A3', 'score': 9.0}, {'connected_gene': 'RN7SL277P', 'score': 0.29}, {'connected_gene': 'GC01P019361', 'score': 0.29}]