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
ENST00000355624 [[119764426, 119768736], [119774575, 119774621], [119798482, 119798951], [119799633, 119800076], [119805321, 119806114]] [[119768508, 119768736], [119774575, 119774621], [119798482, 119798951], [119799633, 119800076], [119805321, 119805674]]
ENST00000369199 [[119768508, 119768736], [119774575, 119774621], [119793492, 119793552], [119798482, 119798951], [119799633, 119800076], [119805321, 119805674]] [[119768508, 119768736], [119774575, 119774621], [119793492, 119793552], [119798482, 119798951], [119799633, 119800076], [119805321, 119805674]]
ENST00000483413 [[119798434, 119798951], [119799633, 119799823]] None
ENST00000476207 [[119765266, 119765349], [119768592, 119768736], [119774575, 119774621]] None
NM_014904 [[119764426, 119768736], [119774575, 119774621], [119798482, 119798951], [119799633, 119800076], [119805321, 119806114]] [[119768508, 119768736], [119774575, 119774621], [119798482, 119798951], [119799633, 119800076], [119805321, 119805674]]
NM_001330167 [[119764426, 119768736], [119774575, 119774621], [119793492, 119793552], [119798482, 119798951], [119799633, 119800076], [119805321, 119806395]] [[119768508, 119768736], [119774575, 119774621], [119793492, 119793552], [119798482, 119798951], [119799633, 119800076], [119805321, 119805674]]
Promoter
Chrom Start End Description
chr10 119799753 119799794 CAGE_peak_10_at_RAB11FIP2_5end
chr10 119805558 119805572 CAGE_peak_7_at_RAB11FIP2_5end
chr10 119806085 119806108 CAGE_peak_5_at_RAB11FIP2_5end
chr10 119806121 119806158 CAGE_peak_4_at_RAB11FIP2_5end
chr10 119806381 119806423 CAGE_peak_1_at_RAB11FIP2_5end
chr10 119806435 119806460 CAGE_peak_2_at_RAB11FIP2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I118045 118045146 118047839 2 [{'connected_gene': 'CASC2', 'score': 555.66}, {'connected_gene': 'RAB11FIP2', 'score': 550.77}, {'connected_gene': 'RPL17P36', 'score': 13.07}, {'connected_gene': 'ENSG00000231104', 'score': 10.37}]
chr10 GH10I118031 118031390 118033564 0.2 [{'connected_gene': 'CASC2', 'score': 7.28}, {'connected_gene': 'ENSG00000231104', 'score': 4.63}, {'connected_gene': 'RAB11FIP2', 'score': 0.39}]
chr10 GH10I118034 118034875 118036465 0.58 [{'connected_gene': 'CASC2', 'score': 5.06}, {'connected_gene': 'RAB11FIP2', 'score': 0.39}, {'connected_gene': 'ENSG00000231104', 'score': 0.37}]
chr10 GH10I118042 118042801 118043200 0.46 [{'connected_gene': 'RAB11FIP2', 'score': 0.77}, {'connected_gene': 'CASC2', 'score': 0.77}, {'connected_gene': 'ENSG00000231104', 'score': 0.31}]
chr10 GH10I117551 117551994 117553619 0.95 [{'connected_gene': 'EMX2', 'score': 27.36}, {'connected_gene': 'RAB11FIP2', 'score': 4.03}, {'connected_gene': 'EMX2OS', 'score': 0.44}, {'connected_gene': 'ENSG00000235198', 'score': 0.37}]
chr10 GH10I117174 117174601 117176299 1.09 [{'connected_gene': 'VAX1', 'score': 11.86}, {'connected_gene': 'KCNK18', 'score': 11.85}, {'connected_gene': 'RPL12P26', 'score': 11.85}, {'connected_gene': 'MIR3663HG', 'score': 11.04}, {'connected_gene': 'RAB11FIP2', 'score': 10.52}, {'connected_gene': 'SLC18A2', 'score': 10.31}, {'connected_gene': 'LOC105378500', 'score': 10.31}, {'connected_gene': 'GC10M117197', 'score': 0.34}]
chr10 GH10I118017 118017490 118018262 0.2 [{'connected_gene': 'ENSG00000231104', 'score': 550.77}, {'connected_gene': 'RAB11FIP2', 'score': 11.43}, {'connected_gene': 'CASC2', 'score': 11.43}]
chr10 GH10I118076 118076493 118077431 0.2 [{'connected_gene': 'PIR56844', 'score': 0.39}, {'connected_gene': 'RAB11FIP2', 'score': 0.29}, {'connected_gene': 'CASC2', 'score': 0.29}]
chr10 GH10I118061 118061915 118063566 0.38 [{'connected_gene': 'ENSG00000231104', 'score': 11.7}, {'connected_gene': 'RAB11FIP2', 'score': 0.37}, {'connected_gene': 'CASC2', 'score': 0.37}, {'connected_gene': 'PIR56844', 'score': 0.31}]
chr10 GH10I117979 117979752 117980965 0.43 [{'connected_gene': 'ENSG00000231104', 'score': 11.38}, {'connected_gene': 'RAB11FIP2', 'score': 11.3}, {'connected_gene': 'LOC105378504', 'score': 0.26}]
chr10 GH10I117972 117972570 117972719 0.2 [{'connected_gene': 'ENSG00000231104', 'score': 11.07}, {'connected_gene': 'RAB11FIP2', 'score': 11.0}, {'connected_gene': 'LOC105378504', 'score': 0.29}]
chr10 GH10I117928 117928355 117928565 0.4 [{'connected_gene': 'ENSG00000231104', 'score': 10.52}, {'connected_gene': 'RAB11FIP2', 'score': 10.48}, {'connected_gene': 'LOC105378504', 'score': 0.39}, {'connected_gene': 'ENSG00000263041', 'score': 0.15}]
chr10 GH10I117966 117966288 117967650 0.76 [{'connected_gene': 'ENSG00000231104', 'score': 11.08}, {'connected_gene': 'RAB11FIP2', 'score': 11.03}, {'connected_gene': 'LOC105378504', 'score': 0.31}]