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
ENST00000534663 [[36537013, 36537081], [36541681, 36541779], [36557525, 36557584], [36584934, 36585048], [36587326, 36587430], [36587996, 36588101], [36588905, 36588979], [36594840, 36597643], [36611933, 36612025], [36614516, 36614706]] [[36594854, 36597643], [36611933, 36611940]]
ENST00000529126 [[36532258, 36532588], [36541681, 36541779], [36557508, 36557562]] None
ENST00000299440 [[36589574, 36589672], [36594840, 36601306]] [[36594854, 36597986]]
NM_000448 [[36589562, 36589672], [36594840, 36601312]] [[36594854, 36597986]]
Promoter
Chrom Start End Description
chr11 36531897 36531927 CAGE_peak_3_at_RAG1_5end
chr11 36589320 36589332 CAGE_peak_4_at_RAG1_5end
chr11 36589527 36589538 CAGE_peak_2_at_RAG1_5end
chr11 36589547 36589570 CAGE_peak_1_at_RAG1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I036469 36469060 36471074 0.72 [{'connected_gene': 'PRR5L', 'score': 18.95}, {'connected_gene': 'ENSG00000255060', 'score': 11.85}, {'connected_gene': 'RAG1', 'score': 10.92}, {'connected_gene': 'TRAF6', 'score': 10.92}, {'connected_gene': 'COMMD9', 'score': 10.86}, {'connected_gene': 'GC11M036483', 'score': 0.37}, {'connected_gene': 'GC11P036439', 'score': 0.29}]
chr11 GH11I036507 36507872 36513056 2.09 [{'connected_gene': 'TRAF6', 'score': 569.26}, {'connected_gene': 'GC11P036511', 'score': 550.77}, {'connected_gene': 'RAG1', 'score': 550.77}, {'connected_gene': 'ENSG00000280331', 'score': 550.77}, {'connected_gene': 'GC11P036512', 'score': 550.77}, {'connected_gene': 'PRR5L', 'score': 5.77}, {'connected_gene': 'COMMD9', 'score': 4.77}, {'connected_gene': 'GC11M036546', 'score': 0.28}]
chr11 GH11I036619 36619436 36619674 0.83 [{'connected_gene': 'RAG2', 'score': 5.9}, {'connected_gene': 'RAG1', 'score': 5.11}, {'connected_gene': 'PRR5L', 'score': 3.46}, {'connected_gene': 'GC11M036597', 'score': 0.39}, {'connected_gene': 'C11orf74', 'score': 0.31}, {'connected_gene': 'GC11M036644', 'score': 0.28}]
chr11 GH11I036571 36571933 36572368 0.46 [{'connected_gene': 'RAG2', 'score': 18.72}, {'connected_gene': 'RAG1', 'score': 18.69}, {'connected_gene': 'TRAF6', 'score': 10.69}, {'connected_gene': 'GC11P036555', 'score': 0.37}, {'connected_gene': 'C11orf74', 'score': 0.34}]
chr11 GH11I036596 36596326 36596713 0.46 [{'connected_gene': 'RAG2', 'score': 581.45}, {'connected_gene': 'RAG1', 'score': 39.96}, {'connected_gene': 'C11orf74', 'score': 0.77}]
chr11 GH11I036626 36626493 36628903 0.91 [{'connected_gene': 'RAG2', 'score': 12.61}, {'connected_gene': 'C11orf74', 'score': 11.77}, {'connected_gene': 'RAG1', 'score': 10.48}, {'connected_gene': 'TRAF6', 'score': 10.48}, {'connected_gene': 'GC11M036597', 'score': 0.34}, {'connected_gene': 'GC11M036644', 'score': 0.31}]
chr11 GH11I036629 36629646 36632273 0.43 [{'connected_gene': 'RAG2', 'score': 11.72}, {'connected_gene': 'C11orf74', 'score': 11.7}, {'connected_gene': 'RAG1', 'score': 10.3}, {'connected_gene': 'TRAF6', 'score': 10.3}, {'connected_gene': 'GC11M036644', 'score': 0.34}, {'connected_gene': 'GC11M036597', 'score': 0.31}]
chr11 GH11I036558 36558180 36560450 0.54 [{'connected_gene': 'RAG2', 'score': 12.21}, {'connected_gene': 'C11orf74', 'score': 12.08}, {'connected_gene': 'GC11P036555', 'score': 0.77}, {'connected_gene': 'RAG1', 'score': 0.25}]
chr11 GH11I036577 36577137 36578490 0.76 [{'connected_gene': 'RAG2', 'score': 11.77}, {'connected_gene': 'C11orf74', 'score': 0.37}, {'connected_gene': 'GC11P036555', 'score': 0.34}, {'connected_gene': 'RAG1', 'score': 0.2}]
chr11 GH11I036292 36292600 36292800 0.72 [{'connected_gene': 'RAG1', 'score': 10.63}, {'connected_gene': 'TRAF6', 'score': 10.63}, {'connected_gene': 'ENSG00000255060', 'score': 10.31}, {'connected_gene': 'COMMD9', 'score': 0.77}, {'connected_gene': 'PRR5L', 'score': 0.77}]
chr11 GH11I036293 36292411 36292560 0.78 [{'connected_gene': 'RAG1', 'score': 10.63}, {'connected_gene': 'TRAF6', 'score': 10.63}, {'connected_gene': 'ENSG00000255060', 'score': 10.31}, {'connected_gene': 'COMMD9', 'score': 0.77}, {'connected_gene': 'PRR5L', 'score': 0.77}]
chr11 GH11I036541 36541000 36541401 0.95 [{'connected_gene': 'RAG1', 'score': 11.98}, {'connected_gene': 'TRAF6', 'score': 11.98}, {'connected_gene': 'C11orf74', 'score': 10.2}, {'connected_gene': 'RAG2', 'score': 10.19}, {'connected_gene': 'GC11M036546', 'score': 0.44}]
chr11 GH11I036569 36569122 36569460 0.42 [{'connected_gene': 'RAG1', 'score': 34.08}, {'connected_gene': 'RAG2', 'score': 30.22}, {'connected_gene': 'C11orf74', 'score': 12.0}, {'connected_gene': 'TRAF6', 'score': 10.42}, {'connected_gene': 'GC11P036555', 'score': 0.39}]
chr11 GH11I036683 36683969 36684121 0.43 [{'connected_gene': 'RAG1', 'score': 6.55}, {'connected_gene': 'RAG2', 'score': 6.12}, {'connected_gene': 'LOC100422241', 'score': 0.39}, {'connected_gene': 'GC11P036666', 'score': 0.37}]
chr11 GH11I036685 36685228 36685502 0.46 [{'connected_gene': 'RAG1', 'score': 12.1}, {'connected_gene': 'RAG2', 'score': 10.3}, {'connected_gene': 'LOC100422241', 'score': 0.39}, {'connected_gene': 'GC11P036666', 'score': 0.37}]
chr11 GH11I036567 36567963 36568022 0.7 [{'connected_gene': 'RAG1', 'score': 560.42}, {'connected_gene': 'C11orf74', 'score': 11.97}, {'connected_gene': 'RAG2', 'score': 11.95}, {'connected_gene': 'TRAF6', 'score': 10.42}, {'connected_gene': 'GC11P036555', 'score': 0.39}]
chr11 GH11I036564 36564414 36565000 1 [{'connected_gene': 'C11orf74', 'score': 12.07}, {'connected_gene': 'RAG2', 'score': 12.05}, {'connected_gene': 'PRR5L', 'score': 4.87}, {'connected_gene': 'GC11P036555', 'score': 0.44}, {'connected_gene': 'RAG1', 'score': 0.23}]
chr11 GH11I036487 36487164 36488983 0.4 [{'connected_gene': 'GC11M036483', 'score': 550.77}, {'connected_gene': 'PRR5L', 'score': 17.72}, {'connected_gene': 'TRAF6', 'score': 16.98}, {'connected_gene': 'RAG1', 'score': 12.13}, {'connected_gene': 'COMMD9', 'score': 11.12}, {'connected_gene': 'ENSG00000255060', 'score': 10.71}]
chr11 GH11I036603 36603941 36606179 0.49 [{'connected_gene': 'GC11M036597', 'score': 550.77}, {'connected_gene': 'RAG1', 'score': 10.06}, {'connected_gene': 'TRAF6', 'score': 10.06}, {'connected_gene': 'RAG2', 'score': 0.44}, {'connected_gene': 'C11orf74', 'score': 0.39}]
chr11 GH11I036606 36606420 36607491 0.2 [{'connected_gene': 'GC11M036597', 'score': 550.77}, {'connected_gene': 'RAG1', 'score': 10.06}, {'connected_gene': 'TRAF6', 'score': 10.06}, {'connected_gene': 'C11orf74', 'score': 0.39}, {'connected_gene': 'GC11M036644', 'score': 0.25}]
chr11 GH11I036312 36312229 36313400 0.64 [{'connected_gene': 'ENSG00000255060', 'score': 10.95}, {'connected_gene': 'COMMD9', 'score': 10.78}, {'connected_gene': 'RAG1', 'score': 10.04}, {'connected_gene': 'TRAF6', 'score': 10.04}, {'connected_gene': 'RAG2', 'score': 9.58}, {'connected_gene': 'C11orf74', 'score': 9.2}, {'connected_gene': 'ENSG00000254566', 'score': 0.39}, {'connected_gene': 'PRR5L', 'score': 0.37}]