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
ENST00000485761 [[208057593, 208057890], [208062026, 208062191], [208062505, 208062558], [208062809, 208062966], [208070837, 208070918], [208072317, 208072479]] None
ENST00000367036 [[208059883, 208061268], [208062026, 208062191], [208062505, 208062558], [208062809, 208062966], [208063059, 208063837]] [[208061082, 208061268], [208062026, 208062191], [208062505, 208062558], [208062809, 208062966], [208063059, 208063182]]
ENST00000310833 [[208059883, 208061268], [208062026, 208062191], [208062505, 208062558], [208062809, 208062966], [208070837, 208070918], [208072317, 208072571], [208073165, 208073348], [208084346, 208084747]] [[208061082, 208061268], [208062026, 208062191], [208062505, 208062558], [208062809, 208062966], [208070837, 208070918], [208072317, 208072571], [208073165, 208073348], [208084346, 208084425]]
ENST00000356522 [[208059883, 208061463], [208062026, 208062191], [208062505, 208062558], [208062809, 208062966], [208070837, 208070918], [208072317, 208072571], [208073165, 208073348], [208084346, 208084747]] [[208061448, 208061463], [208062026, 208062191], [208062505, 208062558], [208062809, 208062966], [208070837, 208070918], [208072317, 208072571], [208073165, 208073348], [208084346, 208084425]]
ENST00000537704 [[208060660, 208061268], [208062026, 208062191], [208062505, 208062558], [208062809, 208062966], [208070837, 208070918], [208073165, 208073348], [208084346, 208084461]] [[208061082, 208061268], [208062026, 208062191], [208062505, 208062558], [208062809, 208062966], [208070837, 208070918], [208073165, 208073276]]
NM_001773 [[208059882, 208061463], [208062026, 208062191], [208062505, 208062558], [208062809, 208062966], [208070837, 208070918], [208072317, 208072571], [208073165, 208073348], [208084346, 208084683]] [[208061448, 208061463], [208062026, 208062191], [208062505, 208062558], [208062809, 208062966], [208070837, 208070918], [208072317, 208072571], [208073165, 208073348], [208084346, 208084425]]
NM_001025109 [[208059882, 208061268], [208062026, 208062191], [208062505, 208062558], [208062809, 208062966], [208070837, 208070918], [208072317, 208072571], [208073165, 208073348], [208084346, 208084683]] [[208061082, 208061268], [208062026, 208062191], [208062505, 208062558], [208062809, 208062966], [208070837, 208070918], [208072317, 208072571], [208073165, 208073348], [208084346, 208084425]]
Promoter
Chrom Start End Description
chr1 208063620 208063634 CAGE_peak_4_at_CD34_5end
chr1 208084373 208084384 CAGE_peak_7_at_CD34_5end
chr1 208084387 208084511 CAGE_peak_1_at_CD34_5end
chr1 208084527 208084543 CAGE_peak_5_at_CD34_5end
chr1 208084585 208084627 CAGE_peak_3_at_CD34_5end
chr1 208084668 208084701 CAGE_peak_2_at_CD34_5end
chr1 208084709 208084727 CAGE_peak_6_at_CD34_5end
chr1 208084729 208084734 CAGE_peak_9_at_CD34_5end
chr1 208084930 208084934 CAGE_peak_22_at_CD34_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I207907 207907424 207913068 2.35 [{'connected_gene': 'CD34', 'score': 562.64}, {'connected_gene': 'C4BPA', 'score': 4.24}, {'connected_gene': 'MIR29B2CHG', 'score': 0.26}]
chr1 GH01I207886 207886873 207892721 1.12 [{'connected_gene': 'CD34', 'score': 12.59}, {'connected_gene': 'PLXNA2', 'score': 9.14}, {'connected_gene': 'C4BPA', 'score': 6.29}, {'connected_gene': 'CD46', 'score': 4.65}, {'connected_gene': 'MIR29B2CHG', 'score': 0.34}]
chr1 GH01I207941 207941270 207943138 1.17 [{'connected_gene': 'CD34', 'score': 12.15}, {'connected_gene': 'PLXNA2', 'score': 1.74}, {'connected_gene': 'LOC105372883', 'score': 0.37}]
chr1 GH01I207882 207882384 207886575 1.3 [{'connected_gene': 'CD34', 'score': 11.67}, {'connected_gene': 'PLXNA2', 'score': 9.14}, {'connected_gene': 'MIR29B2CHG', 'score': 0.37}]
chr1 GH01I207887 207886786 207886809 0.4 [{'connected_gene': 'CD34', 'score': 11.54}, {'connected_gene': 'PLXNA2', 'score': 9.14}, {'connected_gene': 'MIR29B2CHG', 'score': 0.37}]
chr1 GH01I207934 207934468 207935145 0.89 [{'connected_gene': 'CD34', 'score': 12.09}, {'connected_gene': 'LOC105372883', 'score': 0.34}]
chr1 GH01I207922 207922314 207926045 1.25 [{'connected_gene': 'CD34', 'score': 0.39}, {'connected_gene': 'LOC105372883', 'score': 0.28}]
chr1 GH01I207913 207913609 207913982 0.64 [{'connected_gene': 'CD34', 'score': 3.71}, {'connected_gene': 'LOC105372883', 'score': 0.25}]
chr1 GH01I207948 207948466 207950412 0.58 [{'connected_gene': 'CD34', 'score': 12.25}, {'connected_gene': 'LOC105372883', 'score': 0.44}]
chr1 GH01I207935 207935236 207935385 0.98 [{'connected_gene': 'CD34', 'score': 12.09}, {'connected_gene': 'LOC105372883', 'score': 0.34}]
chr1 GH01I207917 207917129 207921831 0.94 [{'connected_gene': 'CD34', 'score': 0.44}, {'connected_gene': 'LOC105372883', 'score': 0.28}]
chr1 GH01I207939 207938136 207938285 0.49 [{'connected_gene': 'CD34', 'score': 12.31}, {'connected_gene': 'LOC105372883', 'score': 0.34}]
chr1 GH01I207938 207938788 207939349 0.2 [{'connected_gene': 'CD34', 'score': 12.31}, {'connected_gene': 'LOC105372883', 'score': 0.34}]
chr1 GH01I207903 207903196 207903345 0.58 [{'connected_gene': 'CD34', 'score': 0.44}, {'connected_gene': 'MIR29B2CHG', 'score': 0.29}]
chr1 GH01I207905 207904682 207904800 0.59 [{'connected_gene': 'CD34', 'score': 9.75}, {'connected_gene': 'MIR29B2CHG', 'score': 0.28}]
chr1 GH01I207900 207900993 207903177 0.52 [{'connected_gene': 'CD34', 'score': 0.44}, {'connected_gene': 'MIR29B2CHG', 'score': 0.29}]
chr1 GH01I207894 207894157 207896225 0.54 [{'connected_gene': 'CD34', 'score': 0.37}, {'connected_gene': 'MIR29B2CHG', 'score': 0.31}]
chr1 GH01I207892 207892836 207893045 0.4 [{'connected_gene': 'CD34', 'score': 0.37}, {'connected_gene': 'MIR29B2CHG', 'score': 0.34}]
chr1 GH01I207904 207904436 207904585 0.58 [{'connected_gene': 'CD34', 'score': 0.44}, {'connected_gene': 'MIR29B2CHG', 'score': 0.28}]
chr1 GH01I207906 207905336 207906655 0.2 [{'connected_gene': 'C4BPA', 'score': 6.28}, {'connected_gene': 'CD34', 'score': 0.44}, {'connected_gene': 'MIR29B2CHG', 'score': 0.28}]
chr1 GH01I207857 207857300 207860076 0.52 [{'connected_gene': 'CD46', 'score': 22.64}, {'connected_gene': 'CD34', 'score': 9.66}, {'connected_gene': 'C4BPA', 'score': 7.68}, {'connected_gene': 'MIR29B2CHG', 'score': 0.39}, {'connected_gene': 'GC01P207829', 'score': 0.28}, {'connected_gene': 'PIR33548', 'score': 0.28}]
chr1 GH01I207860 207860489 207871694 1.86 [{'connected_gene': 'CD46', 'score': 23.55}, {'connected_gene': 'CD34', 'score': 9.68}, {'connected_gene': 'CD55', 'score': 5.09}, {'connected_gene': 'MIR29B2CHG', 'score': 0.77}, {'connected_gene': 'GC01P207829', 'score': 0.25}, {'connected_gene': 'PIR33548', 'score': 0.25}]
chr1 GH01I207846 207846792 207853800 1.45 [{'connected_gene': 'CD46', 'score': 26.9}, {'connected_gene': 'CD34', 'score': 11.45}, {'connected_gene': 'CR1L', 'score': 5.07}, {'connected_gene': 'PLXNA2', 'score': 2.66}, {'connected_gene': 'CR1', 'score': 1.99}, {'connected_gene': 'MIR29B2CHG', 'score': 0.37}, {'connected_gene': 'GC01P207829', 'score': 0.29}, {'connected_gene': 'PIR33548', 'score': 0.29}]
chr1 GH01I207841 207841647 207844455 0.52 [{'connected_gene': 'CD46', 'score': 17.03}, {'connected_gene': 'CD34', 'score': 10.45}, {'connected_gene': 'CR1L', 'score': 5.13}, {'connected_gene': 'GC01P207829', 'score': 0.34}, {'connected_gene': 'PIR33548', 'score': 0.34}, {'connected_gene': 'MIR29B2CHG', 'score': 0.31}]
chr1 GH01I207855 207855607 207857273 0.2 [{'connected_gene': 'CD46', 'score': 22.63}, {'connected_gene': 'CD34', 'score': 9.73}, {'connected_gene': 'MIR29B2CHG', 'score': 0.39}, {'connected_gene': 'GC01P207829', 'score': 0.28}, {'connected_gene': 'PIR33548', 'score': 0.28}]
chr1 GH01I207845 207845001 207845600 0.4 [{'connected_gene': 'CD46', 'score': 28.02}, {'connected_gene': 'CD34', 'score': 9.71}, {'connected_gene': 'MIR29B2CHG', 'score': 0.34}, {'connected_gene': 'GC01P207829', 'score': 0.31}, {'connected_gene': 'PIR33548', 'score': 0.31}]
chr1 GH01I207816 207816676 207829145 2.33 [{'connected_gene': 'CD46', 'score': 33.85}, {'connected_gene': 'CDCA4P4', 'score': 12.72}, {'connected_gene': 'CD34', 'score': 10.98}, {'connected_gene': 'CR1', 'score': 8.15}, {'connected_gene': 'PLXNA2', 'score': 5.19}, {'connected_gene': 'CR1L', 'score': 4.66}, {'connected_gene': 'GC01P207829', 'score': 0.77}, {'connected_gene': 'LOC148696', 'score': 0.77}, {'connected_gene': 'PIR33548', 'score': 0.77}, {'connected_gene': 'MIR29B2CHG', 'score': 0.25}]
chr1 GH01I207875 207875286 207877061 0.63 [{'connected_gene': 'CD46', 'score': 16.12}, {'connected_gene': 'MIR29B2CHG', 'score': 0.44}, {'connected_gene': 'CD34', 'score': 0.28}]
chr1 GH01I207874 207874522 207875213 0.43 [{'connected_gene': 'CD46', 'score': 5.37}, {'connected_gene': 'MIR29B2CHG', 'score': 0.44}, {'connected_gene': 'CD34', 'score': 0.28}]
chr1 GH01I207958 207958713 207960007 0.83 [{'connected_gene': 'LOC105372883', 'score': 550.77}, {'connected_gene': 'CD34', 'score': 12.6}, {'connected_gene': 'C1orf116', 'score': 4.66}, {'connected_gene': 'GC01P207986', 'score': 0.31}]
chr1 GH01I207897 207897245 207900437 0.56 [{'connected_gene': 'CDCA4P4', 'score': 11.86}, {'connected_gene': 'C4BPA', 'score': 5.47}, {'connected_gene': 'CD34', 'score': 0.39}, {'connected_gene': 'MIR29B2CHG', 'score': 0.31}]
chr1 GH01I207872 207872231 207874192 1.26 [{'connected_gene': 'MIR29B2CHG', 'score': 0.77}, {'connected_gene': 'CD34', 'score': 0.28}]

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