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
ENST00000304771 [[75297962, 75299229], [75316852, 75317049], [75319153, 75319367], [75378509, 75380165]] [[75298103, 75299229], [75316852, 75317049], [75319153, 75319367], [75378509, 75379414]]
ENST00000526740 [[75297963, 75299229], [75316852, 75317049], [75319153, 75319367], [75379574, 75379652]] [[75298103, 75299229], [75316852, 75317049], [75319153, 75319285]]
ENST00000434603 [[75313904, 75317049], [75319153, 75319367], [75378509, 75379479]] [[75316848, 75317049], [75319153, 75319367], [75378509, 75379414]]
ENST00000526689 [[75299034, 75299229], [75309930, 75310081]] None
NM_033063 [[75297962, 75299229], [75316852, 75317049], [75319153, 75319367], [75378509, 75379479]] [[75298103, 75299229], [75316852, 75317049], [75319153, 75319367], [75378509, 75379414]]
NM_207577 [[75313904, 75317049], [75319153, 75319367], [75378509, 75379479]] [[75316848, 75317049], [75319153, 75319367], [75378509, 75379414]]
Promoter
Chrom Start End Description
chr11 75310097 75310110 CAGE_peak_8_at_MAP6_5end
chr11 75379125 75379193 CAGE_peak_1_at_MAP6_5end
chr11 75379595 75379606 CAGE_peak_17_at_MAP6_5end
chr11 75379612 75379726 CAGE_peak_2_at_MAP6_5end
chr11 75379951 75379971 CAGE_peak_6_at_MAP6_5end
chr11 75379980 75380019 CAGE_peak_3_at_MAP6_5end
chr11 75380041 75380055 CAGE_peak_4_at_MAP6_5end
chr11 75380074 75380091 CAGE_peak_5_at_MAP6_5end
chr11 75380221 75380232 CAGE_peak_7_at_MAP6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I075587 75587233 75590607 1.16 [{'connected_gene': 'SERPINH1', 'score': 12.45}, {'connected_gene': 'GDPD5', 'score': 10.53}, {'connected_gene': 'MOGAT2', 'score': 10.39}, {'connected_gene': 'LOC105369391', 'score': 9.5}, {'connected_gene': 'MAP6', 'score': 7.37}, {'connected_gene': 'ENSG00000255434', 'score': 0.44}]
chr11 GH11I075601 75601025 75601263 0.41 [{'connected_gene': 'SERPINH1', 'score': 11.3}, {'connected_gene': 'MOGAT2', 'score': 10.64}, {'connected_gene': 'MAP6', 'score': 4.41}, {'connected_gene': 'ENSG00000255434', 'score': 0.77}, {'connected_gene': 'LOC105369391', 'score': 0.37}, {'connected_gene': 'ENSG00000254630', 'score': 0.28}]
chr11 GH11I075603 75603096 75605111 0.66 [{'connected_gene': 'SERPINH1', 'score': 11.29}, {'connected_gene': 'MOGAT2', 'score': 10.65}, {'connected_gene': 'MAP6', 'score': 8.31}, {'connected_gene': 'ENSG00000255434', 'score': 0.44}, {'connected_gene': 'LOC105369391', 'score': 0.34}, {'connected_gene': 'ENSG00000254630', 'score': 0.29}]
chr11 GH11I075556 75556674 75567142 2.25 [{'connected_gene': 'SERPINH1', 'score': 556.14}, {'connected_gene': 'RPS3', 'score': 23.55}, {'connected_gene': 'RNF169', 'score': 21.42}, {'connected_gene': 'EMSY', 'score': 14.12}, {'connected_gene': 'LOC105369391', 'score': 11.7}, {'connected_gene': 'SNORD15B', 'score': 11.67}, {'connected_gene': 'GDPD5', 'score': 11.34}, {'connected_gene': 'MAP6', 'score': 11.09}, {'connected_gene': 'KLHL35', 'score': 10.69}, {'connected_gene': 'RN7SL239P', 'score': 10.24}, {'connected_gene': 'MOGAT2', 'score': 9.73}, {'connected_gene': 'RPS12P22', 'score': 4.39}]
chr11 GH11I075712 75712550 75713792 0.2 [{'connected_gene': 'DGAT2', 'score': 10.86}, {'connected_gene': 'LOC105369391', 'score': 7.58}, {'connected_gene': 'MOGAT2', 'score': 0.77}, {'connected_gene': 'LOC105369392', 'score': 0.44}, {'connected_gene': 'MAP6', 'score': 0.26}]
chr11 GH11I075663 75663976 75664045 0.43 [{'connected_gene': 'MOGAT2', 'score': 10.69}, {'connected_gene': 'GC11P075668', 'score': 0.77}, {'connected_gene': 'MAP6', 'score': 0.44}, {'connected_gene': 'GC11P075643', 'score': 0.34}, {'connected_gene': 'LOC100419542', 'score': 0.34}]
chr11 GH11I075632 75632874 75634203 0.38 [{'connected_gene': 'MOGAT2', 'score': 10.1}, {'connected_gene': 'MAP6', 'score': 4.5}, {'connected_gene': 'ENSG00000254630', 'score': 0.44}, {'connected_gene': 'ENSG00000255434', 'score': 0.28}]
chr11 GH11I075698 75698214 75698488 0.52 [{'connected_gene': 'MOGAT2', 'score': 0.37}, {'connected_gene': 'MAP6', 'score': 0.31}]
chr11 GH11I075697 75697996 75698165 0.38 [{'connected_gene': 'MOGAT2', 'score': 0.37}, {'connected_gene': 'MAP6', 'score': 0.31}]
chr11 GH11I075634 75634473 75636314 0.72 [{'connected_gene': 'MOGAT2', 'score': 10.1}, {'connected_gene': 'ENSG00000254630', 'score': 0.77}, {'connected_gene': 'MAP6', 'score': 0.29}, {'connected_gene': 'ENSG00000255434', 'score': 0.28}]
chr11 GH11I075878 75878425 75880909 0.31 [{'connected_gene': 'UVRAG', 'score': 4.86}, {'connected_gene': 'SLCO2B1', 'score': 4.28}, {'connected_gene': 'MAP6', 'score': 4.18}, {'connected_gene': 'PPP1R1AP1', 'score': 0.29}, {'connected_gene': 'GC11M075838', 'score': 0.26}, {'connected_gene': 'ENSG00000199362', 'score': 0.26}]
chr11 GH11I075706 75706001 75706719 1.07 [{'connected_gene': 'EMSY', 'score': 9.97}, {'connected_gene': 'MAP6', 'score': 6.97}, {'connected_gene': 'LOC105369392', 'score': 0.39}, {'connected_gene': 'MOGAT2', 'score': 0.39}]
chr11 GH11I075667 75667600 75668772 1.71 [{'connected_gene': 'MAP6', 'score': 559.06}, {'connected_gene': 'GC11P075668', 'score': 550.77}, {'connected_gene': 'GC11P075643', 'score': 0.31}, {'connected_gene': 'LOC100419542', 'score': 0.31}]
chr11 GH11I075668 75668936 75669085 0.6 [{'connected_gene': 'MAP6', 'score': 550.77}, {'connected_gene': 'GC11P075668', 'score': 550.77}]
chr11 GH11I075593 75593004 75594011 0.72 [{'connected_gene': 'LOC105369391', 'score': 12.2}, {'connected_gene': 'SERPINH1', 'score': 11.76}, {'connected_gene': 'GDPD5', 'score': 10.25}, {'connected_gene': 'MAP6', 'score': 6.81}, {'connected_gene': 'ENSG00000255434', 'score': 0.77}]
chr11 GH11I075557 75556396 75556545 0.4 [{'connected_gene': 'LOC105369391', 'score': 11.67}, {'connected_gene': 'GDPD5', 'score': 11.36}, {'connected_gene': 'MAP6', 'score': 11.08}, {'connected_gene': 'KLHL35', 'score': 10.69}, {'connected_gene': 'MOGAT2', 'score': 9.33}, {'connected_gene': 'SERPINH1', 'score': 0.44}]
chr11 GH11I075689 75689366 75690965 1.14 [{'connected_gene': 'LOC105369391', 'score': 17.32}, {'connected_gene': 'MOGAT2', 'score': 11.46}, {'connected_gene': 'DGAT2', 'score': 10.9}, {'connected_gene': 'SERPINH1', 'score': 10.38}, {'connected_gene': 'MAP6', 'score': 7.17}, {'connected_gene': 'UVRAG', 'score': 1.51}]
chr11 GH11I075625 75625840 75628838 0.66 [{'connected_gene': 'LOC105369391', 'score': 10.81}, {'connected_gene': 'MOGAT2', 'score': 10.32}, {'connected_gene': 'ENSG00000254630', 'score': 0.39}, {'connected_gene': 'ENSG00000255434', 'score': 0.29}, {'connected_gene': 'MAP6', 'score': 0.26}]
chr11 GH11I075654 75654344 75656724 0.69 [{'connected_gene': 'LOC105369391', 'score': 10.45}, {'connected_gene': 'GC11P075643', 'score': 0.39}, {'connected_gene': 'MAP6', 'score': 0.39}, {'connected_gene': 'LOC100419542', 'score': 0.39}, {'connected_gene': 'GC11P075668', 'score': 0.39}]
chr11 GH11I075597 75597756 75597885 0.62 [{'connected_gene': 'ENSG00000255434', 'score': 550.77}, {'connected_gene': 'SERPINH1', 'score': 11.56}, {'connected_gene': 'DGAT2', 'score': 9.74}, {'connected_gene': 'GDPD5', 'score': 9.68}, {'connected_gene': 'LOC105369391', 'score': 0.39}, {'connected_gene': 'ENSG00000254630', 'score': 0.26}, {'connected_gene': 'MAP6', 'score': 0.19}]
chr11 GH11I075870 75870136 75870381 0.42 [{'connected_gene': 'ENSG00000254814', 'score': 11.99}, {'connected_gene': 'DGAT2', 'score': 11.92}, {'connected_gene': 'MAP6', 'score': 2.94}, {'connected_gene': 'GC11M075838', 'score': 0.29}, {'connected_gene': 'ENSG00000199362', 'score': 0.29}, {'connected_gene': 'PPP1R1AP1', 'score': 0.26}, {'connected_gene': 'UVRAG', 'score': 0.22}]
chr11 GH11I075639 75639447 75640530 0.88 [{'connected_gene': 'ENSG00000254630', 'score': 550.77}, {'connected_gene': 'SNORD15B', 'score': 10.28}, {'connected_gene': 'GC11P075643', 'score': 0.77}, {'connected_gene': 'LOC100419542', 'score': 0.77}, {'connected_gene': 'MAP6', 'score': 0.31}]
chr11 GH11I076046 76046993 76049575 0.82 [{'connected_gene': 'ENSG00000255434', 'score': 11.58}, {'connected_gene': 'LOC105369391', 'score': 10.84}, {'connected_gene': 'ENSG00000255421', 'score': 10.75}, {'connected_gene': 'GVQW3', 'score': 10.72}, {'connected_gene': 'THAP12', 'score': 10.67}, {'connected_gene': 'ENSG00000271757', 'score': 10.07}, {'connected_gene': 'EMSY', 'score': 9.98}, {'connected_gene': 'MAP6', 'score': 9.93}, {'connected_gene': 'ENSG00000272301', 'score': 9.73}, {'connected_gene': 'PIR47539', 'score': 0.28}, {'connected_gene': 'UVRAG', 'score': 0.07}]