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
ENST00000328747 [[64838711, 64838913], [64852814, 64852941], [64853718, 64853814], [64863253, 64866038]] [[64838910, 64838913], [64852814, 64852941], [64853718, 64853814], [64863253, 64864788]]
ENST00000488849 [[64838750, 64838913], [64852814, 64853233]] None
ENST00000431504 [[64838751, 64838913], [64863253, 64866038]] [[64863255, 64864788]]
ENST00000357512 [[64838767, 64838913], [64852814, 64852941], [64863253, 64865997]] [[64838910, 64838913], [64852814, 64852941], [64863253, 64864788]]
ENST00000450302 [[64838793, 64838913], [64853718, 64853814], [64863253, 64865994]] [[64853795, 64853814], [64863253, 64864788]]
NM_001287534 [[64838711, 64838913], [64863253, 64866048]] [[64863255, 64864788]]
NM_007139 [[64838711, 64838913], [64853718, 64853814], [64863253, 64866048]] [[64853795, 64853814], [64863253, 64864788]]
NM_001287532 [[64838711, 64838913], [64852814, 64852941], [64863253, 64866048]] [[64838910, 64838913], [64852814, 64852941], [64863253, 64864788]]
NM_152626 [[64838711, 64838913], [64852814, 64852941], [64853718, 64853814], [64863253, 64866048]] [[64838910, 64838913], [64852814, 64852941], [64853718, 64853814], [64863253, 64864788]]
NM_001287533 [[64838711, 64838913], [64852814, 64852941], [64853718, 64853814], [64854765, 64854887], [64863253, 64866048]] [[64863255, 64864788]]
Promoter
Chrom Start End Description
chr7 64838754 64838778 CAGE_peak_1_at_ZNF92_5end
chr7 64838786 64838809 CAGE_peak_2_at_ZNF92_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I066206 66206954 66207376 0.2 [{'connected_gene': 'TPST1', 'score': 550.77}, {'connected_gene': 'ZNF92', 'score': 3.96}, {'connected_gene': 'PIR59576', 'score': 0.34}]
chr7 GH07I066204 66204548 66206704 2.01 [{'connected_gene': 'TPST1', 'score': 550.77}, {'connected_gene': 'LOC100996437', 'score': 33.63}, {'connected_gene': 'ZNF92', 'score': 3.96}, {'connected_gene': 'PIR59576', 'score': 0.31}]
chr7 GH07I065443 65443397 65446899 0.88 [{'connected_gene': 'CCT6P3', 'score': 19.58}, {'connected_gene': 'ZNF117', 'score': 11.22}, {'connected_gene': 'ZNF273', 'score': 6.84}, {'connected_gene': 'ERV3-1', 'score': 6.29}, {'connected_gene': 'CRCP', 'score': 4.66}, {'connected_gene': 'ENSG00000238124', 'score': 0.37}, {'connected_gene': 'ZNF92', 'score': 0.19}]
chr7 GH07I065448 65448433 65449821 0.59 [{'connected_gene': 'CCT6P3', 'score': 23.03}, {'connected_gene': 'ENSG00000238124', 'score': 0.39}, {'connected_gene': 'ZNF92', 'score': 0.18}]
chr7 GH07I065441 65441208 65441357 0.59 [{'connected_gene': 'CCT6P3', 'score': 20.06}, {'connected_gene': 'ENSG00000238124', 'score': 0.34}, {'connected_gene': 'ZNF92', 'score': 0.2}]
chr7 GH07I065390 65390075 65392202 0.67 [{'connected_gene': 'CCT6P3', 'score': 19.53}, {'connected_gene': 'VKORC1L1', 'score': 17.12}, {'connected_gene': 'ZNF117', 'score': 7.12}, {'connected_gene': 'GTF2IP14', 'score': 5.27}, {'connected_gene': 'INTS4P1', 'score': 4.68}, {'connected_gene': 'ZNF92', 'score': 0.37}, {'connected_gene': 'ENSG00000238124', 'score': 0.19}]
chr7 GH07I065438 65438208 65439441 0.85 [{'connected_gene': 'CCT6P3', 'score': 18.37}, {'connected_gene': 'VKORC1L1', 'score': 10.76}, {'connected_gene': 'ERV3-1', 'score': 4.35}, {'connected_gene': 'ENSG00000238124', 'score': 0.34}, {'connected_gene': 'ZNF92', 'score': 0.2}]
chr7 GH07I065373 65373188 65375322 2.02 [{'connected_gene': 'ZNF92', 'score': 550.77}, {'connected_gene': 'GTF2IP14', 'score': 48.26}, {'connected_gene': 'GUSB', 'score': 23.35}, {'connected_gene': 'CCT6P1', 'score': 13.01}, {'connected_gene': 'ZNF107', 'score': 12.19}, {'connected_gene': 'CCT6P3', 'score': 10.89}, {'connected_gene': 'ERV3-1', 'score': 10.4}, {'connected_gene': 'ENSG00000238124', 'score': 0.17}]
chr7 GH07I065385 65385392 65385451 0.5 [{'connected_gene': 'ZNF92', 'score': 550.39}, {'connected_gene': 'ENSG00000238124', 'score': 0.18}]
chr7 GH07I065397 65397545 65398463 0.82 [{'connected_gene': 'ZNF92', 'score': 12.13}, {'connected_gene': 'ENSG00000238124', 'score': 0.2}]
chr7 GH07I065509 65509000 65509401 0.89 [{'connected_gene': 'ENSG00000226767', 'score': 550.77}, {'connected_gene': 'INTS4P1', 'score': 26.1}, {'connected_gene': 'GTF2IP14', 'score': 23.63}, {'connected_gene': 'VKORC1L1', 'score': 5.72}, {'connected_gene': 'ZNF117', 'score': 4.54}, {'connected_gene': 'ZNF92', 'score': 4.27}, {'connected_gene': 'PIR53398', 'score': 0.39}, {'connected_gene': 'LOC101929322', 'score': 0.25}]
chr7 GH07I066351 66351889 66358031 1.03 [{'connected_gene': 'PIR34160', 'score': 550.77}, {'connected_gene': 'LOC100996437', 'score': 40.34}, {'connected_gene': 'VKORC1L1', 'score': 29.17}, {'connected_gene': 'GS1-124K5.4', 'score': 21.79}, {'connected_gene': 'RABGEF1', 'score': 15.64}, {'connected_gene': 'ZNF92', 'score': 7.26}, {'connected_gene': 'RNU6-313P', 'score': 0.39}, {'connected_gene': 'GC07P066346', 'score': 0.39}, {'connected_gene': 'TPST1', 'score': 0.11}]