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
ENST00000343433 [[57184476, 57185365], [57185694, 57185728], [57185845, 57186002], [57189260, 57189354], [57192169, 57192256], [57202759, 57202820], [57204297, 57204326], [57206369, 57206468], [57207833, 57207894], [57209698, 57209739], [57209824, 57209939], [57216716, 57216876], [57219511, 57219608], [57221568, 57221600], [57224388, 57224423], [57233501, 57233611], [57252847, 57252881], [57254645, 57254807], [57257728, 57258476], [57284954, 57285044]] [[57185343, 57185365], [57185694, 57185728], [57185845, 57186002], [57189260, 57189354], [57192169, 57192256], [57202759, 57202820], [57204297, 57204326], [57206369, 57206468], [57207833, 57207894], [57209698, 57209739], [57209824, 57209939], [57216716, 57216876], [57219511, 57219608], [57221568, 57221600], [57224388, 57224423], [57233501, 57233611], [57252847, 57252881], [57254645, 57254807], [57257728, 57258476], [57284954, 57284963]]
ENST00000484327 [[57192216, 57192256], [57197564, 57197640], [57202759, 57202820], [57204297, 57204326], [57206369, 57206468], [57207833, 57207894], [57209698, 57209739], [57209824, 57209939], [57216716, 57216876], [57233501, 57233611], [57252847, 57252881], [57254645, 57254807], [57257728, 57258476], [57284954, 57285369]] None
ENST00000493000 [[57184543, 57185365], [57185694, 57185728], [57185845, 57186002], [57189260, 57189354], [57192169, 57192256], [57202759, 57202820], [57206369, 57206468], [57209698, 57209739], [57209824, 57209939], [57216716, 57216876], [57219511, 57219608], [57221568, 57221600], [57224388, 57224423], [57227616, 57227686]] None
ENST00000497991 [[57185322, 57185365], [57185694, 57185728], [57185845, 57186529]] None
ENST00000371240 [[57192220, 57192256], [57202759, 57203320]] None
Promoter
Chrom Start End Description
chr1 57285038 57285048 CAGE_peak_4_at_C1orf168_5end
chr1 57285049 57285092 CAGE_peak_1_at_C1orf168_5end
chr1 57285332 57285349 CAGE_peak_3_at_C1orf168_5end
chr1 57285367 57285396 CAGE_peak_2_at_C1orf168_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I056574 56574800 56582386 2.5 [{'connected_gene': 'PLPP3', 'score': 554.69}, {'connected_gene': 'C8A', 'score': 8.33}, {'connected_gene': 'FYB2', 'score': 7.87}, {'connected_gene': 'C8B', 'score': 6.59}, {'connected_gene': 'PRKAA2', 'score': 4.96}, {'connected_gene': 'RPL23AP85', 'score': 0.44}, {'connected_gene': 'GC01P056539', 'score': 0.26}]
chr1 GH01I056907 56907863 56912072 1.17 [{'connected_gene': 'C8B', 'score': 21.73}, {'connected_gene': 'C8A', 'score': 19.25}, {'connected_gene': 'FYB2', 'score': 18.15}, {'connected_gene': 'GC01P056889', 'score': 0.34}, {'connected_gene': 'LOC105378745', 'score': 0.23}]
chr1 GH01I057279 57279420 57283946 1.18 [{'connected_gene': 'C8A', 'score': 4.02}, {'connected_gene': 'C8B', 'score': 3.63}, {'connected_gene': 'FYB2', 'score': 2.39}, {'connected_gene': 'GC01P057267', 'score': 0.39}, {'connected_gene': 'GC01P057293', 'score': 0.39}]
chr1 GH01I057006 57006755 57006879 0.22 [{'connected_gene': 'FYB2', 'score': 5.49}, {'connected_gene': 'C8A', 'score': 5.05}, {'connected_gene': 'C8B', 'score': 3.8}, {'connected_gene': 'GC01P057000', 'score': 0.44}, {'connected_gene': 'LOC105378748', 'score': 0.39}]
chr1 GH01I056774 56774001 56774400 0.63 [{'connected_gene': 'FYB2', 'score': 0.25}, {'connected_gene': 'GC01P056713', 'score': 0.21}]
chr1 GH01I056820 56820992 56821703 1.01 [{'connected_gene': 'FYB2', 'score': 550.77}, {'connected_gene': 'ENSG00000229913', 'score': 0.44}]
chr1 GH01I056815 56815886 56819987 1.63 [{'connected_gene': 'FYB2', 'score': 550.77}, {'connected_gene': 'GC01P056713', 'score': 0.15}]
chr1 GH01I056787 56787998 56789128 0.56 [{'connected_gene': 'ENSG00000229913', 'score': 10.79}, {'connected_gene': 'FYB2', 'score': 0.29}, {'connected_gene': 'GC01P056713', 'score': 0.19}]