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
ENST00000334307 [[36616050, 36616142], [36631630, 36631789], [36654833, 36654988], [36657600, 36657667], [36669565, 36669705], [36680568, 36680818]] [[36631653, 36631789], [36654833, 36654988], [36657600, 36657667], [36669565, 36669705], [36680568, 36680736]]
ENST00000531554 [[36616062, 36616191], [36631630, 36631789], [36654833, 36654988], [36657600, 36657667], [36669565, 36669705], [36680568, 36680612]] [[36631653, 36631789], [36654833, 36654988], [36657600, 36657667], [36669565, 36669705], [36680568, 36680612]]
ENST00000347206 [[36616062, 36616142], [36631630, 36631789], [36669565, 36669705], [36680568, 36680822]] [[36631653, 36631789], [36669565, 36669705], [36680568, 36680736]]
ENST00000534635 [[36616065, 36616311], [36631630, 36631789], [36669565, 36669705], [36680568, 36680824]] [[36631653, 36631789], [36669565, 36669705], [36680568, 36680736]]
ENST00000446510 [[36616066, 36616142], [36631630, 36631789], [36654833, 36654988], [36657600, 36657667], [36669565, 36669705], [36692825, 36692951], [36693547, 36693635], [36694739, 36694823]] [[36631653, 36631789], [36654833, 36654988], [36657600, 36657667], [36669565, 36669705], [36692825, 36692831]]
ENST00000524539 [[36616080, 36616191], [36631630, 36631789], [36669565, 36669876]] None
ENST00000530697 [[36616106, 36616465], [36631630, 36631789], [36654833, 36654946]] [[36631653, 36631789], [36654833, 36654946]]
ENST00000527108 [[36616120, 36616191], [36631630, 36631789], [36669565, 36669701]] [[36631653, 36631789], [36669565, 36669701]]
ENST00000528092 [[36616170, 36616311], [36631630, 36631789], [36654833, 36654988], [36669565, 36669705], [36680568, 36680834]] [[36631653, 36631789], [36654833, 36654988], [36669565, 36669604]]
ENST00000532470 [[36616399, 36616465], [36619193, 36619280], [36631630, 36631789], [36654833, 36654988], [36657600, 36657667], [36669565, 36669705], [36680568, 36680824]] [[36631653, 36631789], [36654833, 36654988], [36657600, 36657667], [36669565, 36669705], [36680568, 36680736]]
NM_001276727 [[36616042, 36616142], [36631630, 36631789], [36669565, 36669705], [36680568, 36680841]] [[36631653, 36631789], [36669565, 36669705], [36680568, 36680736]]
NM_138787 [[36616042, 36616142], [36631630, 36631789], [36654833, 36654988], [36657600, 36657667], [36669565, 36669705], [36680568, 36680841]] [[36631653, 36631789], [36654833, 36654988], [36657600, 36657667], [36669565, 36669705], [36680568, 36680736]]
NM_001276726 [[36616042, 36616191], [36631630, 36631789], [36669565, 36669705], [36680568, 36680841]] [[36631653, 36631789], [36669565, 36669705], [36680568, 36680736]]
NM_001276723 [[36616042, 36616191], [36631630, 36631789], [36654833, 36654988], [36657600, 36657667], [36669565, 36669705], [36680568, 36680841]] [[36631653, 36631789], [36654833, 36654988], [36657600, 36657667], [36669565, 36669705], [36680568, 36680736]]
NM_001276725 [[36616042, 36616311], [36631630, 36631789], [36669565, 36669705], [36680568, 36680841]] [[36631653, 36631789], [36669565, 36669705], [36680568, 36680736]]
NR_077243 [[36616042, 36616311], [36631630, 36631789], [36654833, 36654988], [36669565, 36669705], [36680568, 36680841]] None
NM_001276722 [[36616042, 36616311], [36631630, 36631789], [36654833, 36654988], [36657600, 36657667], [36669565, 36669705], [36680568, 36680841]] [[36631653, 36631789], [36654833, 36654988], [36657600, 36657667], [36669565, 36669705], [36680568, 36680736]]
NM_001276724 [[36616321, 36616465], [36631630, 36631789], [36654833, 36654988], [36657600, 36657667], [36669565, 36669705], [36680568, 36680841]] [[36631653, 36631789], [36654833, 36654988], [36657600, 36657667], [36669565, 36669705], [36680568, 36680736]]
Promoter
Chrom Start End Description
chr11 36615987 36615996 CAGE_peak_5_at_C11orf74_5end
chr11 36616044 36616095 CAGE_peak_1_at_C11orf74_5end
chr11 36616355 36616402 CAGE_peak_3_at_C11orf74_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH11I036687 36687574 36693947 0.38 [{'connected_gene': 'RAG2', 'score': 11.01}, {'connected_gene': 'C11orf74', 'score': 10.03}, {'connected_gene': 'LOC100422241', 'score': 0.44}, {'connected_gene': 'GC11P036666', 'score': 0.34}]
chr11 GH11I036622 36622151 36623411 0.57 [{'connected_gene': 'RAG2', 'score': 12.64}, {'connected_gene': 'C11orf74', 'score': 11.78}, {'connected_gene': 'GC11M036597', 'score': 0.37}, {'connected_gene': 'GC11M036644', 'score': 0.29}]
chr11 GH11I036623 36623424 36625091 0.31 [{'connected_gene': 'RAG2', 'score': 12.61}, {'connected_gene': 'C11orf74', 'score': 11.77}, {'connected_gene': 'GC11M036597', 'score': 0.37}, {'connected_gene': 'GC11M036644', 'score': 0.29}]
chr11 GH11I036638 36638981 36639269 0.37 [{'connected_gene': 'RAG2', 'score': 11.27}, {'connected_gene': 'C11orf74', 'score': 10.94}, {'connected_gene': 'GC11M036644', 'score': 0.37}, {'connected_gene': 'GC11M036597', 'score': 0.29}]
chr11 GH11I036598 36598226 36598285 0.7 [{'connected_gene': 'RAG2', 'score': 550.77}, {'connected_gene': 'C11orf74', 'score': 0.77}, {'connected_gene': 'GC11M036597', 'score': 0.44}]
chr11 GH11I036609 36609079 36609138 0.7 [{'connected_gene': 'RAG2', 'score': 550.39}, {'connected_gene': 'GC11M036597', 'score': 0.77}, {'connected_gene': 'C11orf74', 'score': 0.39}, {'connected_gene': 'GC11M036644', 'score': 0.25}]
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 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 GH11I036593 36593847 36595773 2.26 [{'connected_gene': 'C11orf74', 'score': 550.77}, {'connected_gene': 'TRAF6', 'score': 13.32}, {'connected_gene': 'PRR5L', 'score': 6.05}, {'connected_gene': 'RAG2', 'score': 0.77}]
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 GH11I036709 36709353 36709385 0.22 [{'connected_gene': 'LOC105376631', 'score': 550.77}, {'connected_gene': 'RAG2', 'score': 10.38}, {'connected_gene': 'C11orf74', 'score': 10.37}, {'connected_gene': 'PRR5L', 'score': 5.84}, {'connected_gene': 'LOC100422241', 'score': 0.39}]
chr11 GH11I036657 36657112 36657213 0.22 [{'connected_gene': 'GC11M036644', 'score': 550.77}, {'connected_gene': 'PRR5L', 'score': 2.84}, {'connected_gene': 'GC11P036666', 'score': 0.44}, {'connected_gene': 'C11orf74', 'score': 0.21}]
chr11 GH11I036601 36601001 36601600 0.97 [{'connected_gene': 'GC11M036597', 'score': 0.77}, {'connected_gene': 'RAG2', 'score': 0.77}, {'connected_gene': 'C11orf74', 'score': 0.44}]
chr11 GH11I036602 36602470 36603641 0.2 [{'connected_gene': 'GC11M036597', 'score': 0.77}, {'connected_gene': 'RAG2', 'score': 0.77}, {'connected_gene': 'C11orf74', 'score': 0.44}]
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}]
chr11 GH11I036610 36610781 36611689 0.31 [{'connected_gene': 'GC11M036597', 'score': 0.44}, {'connected_gene': 'C11orf74', 'score': 0.37}, {'connected_gene': 'GC11M036644', 'score': 0.26}]