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
ENST00000377049 [[10509775, 10510379], [10511433, 10511959]] [[10510280, 10510379], [10511433, 10511652]]
ENST00000320498 [[10509970, 10510379], [10511433, 10511955]] [[10510130, 10510379], [10511433, 10511652]]
NM_001302 [[10509775, 10510379], [10511433, 10512060]] [[10510280, 10510379], [10511433, 10511652]]
Promoter
Chrom Start End Description
chr1 10510081 10510095 CAGE_peak_4_at_CORT_5end
chr1 10510155 10510176 CAGE_peak_3_at_CORT_5end
chr1 10510186 10510203 CAGE_peak_2_at_CORT_5end
chr1 10510205 10510225 CAGE_peak_1_at_CORT_5end
chr1 10510237 10510249 CAGE_peak_6_at_CORT_5end
chr1 10510262 10510271 CAGE_peak_7_at_CORT_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I010494 10494614 10499279 1.55 [{'connected_gene': 'PEX14', 'score': 19.76}, {'connected_gene': 'DFFA', 'score': 12.01}, {'connected_gene': 'CENPS-CORT', 'score': 11.73}, {'connected_gene': 'CENPS', 'score': 11.73}, {'connected_gene': 'CORT', 'score': 11.64}, {'connected_gene': 'ENSG00000203469', 'score': 11.25}, {'connected_gene': 'ENSG00000271989', 'score': 8.47}, {'connected_gene': 'PGD', 'score': 6.9}, {'connected_gene': 'GC01P010513', 'score': 0.37}]
chr1 GH01I010358 10358413 10359687 0.31 [{'connected_gene': 'PGD', 'score': 79.05}, {'connected_gene': 'CENPS', 'score': 10.93}, {'connected_gene': 'CORT', 'score': 10.9}, {'connected_gene': 'PEX14', 'score': 9.84}, {'connected_gene': 'DFFA', 'score': 9.84}, {'connected_gene': 'KIF1B', 'score': 7.89}, {'connected_gene': 'LOC105376725', 'score': 0.44}, {'connected_gene': 'RN7SL731P', 'score': 0.23}]
chr1 GH01I010432 10432475 10434533 0.52 [{'connected_gene': 'PGD', 'score': 18.38}, {'connected_gene': 'ENSG00000271989', 'score': 0.77}, {'connected_gene': 'CENPS', 'score': 0.77}, {'connected_gene': 'CENPS-CORT', 'score': 0.77}, {'connected_gene': 'CORT', 'score': 0.37}]
chr1 GH01I010351 10351755 10354316 0.56 [{'connected_gene': 'PGD', 'score': 86.47}, {'connected_gene': 'KIF1B', 'score': 19.66}, {'connected_gene': 'CENPS', 'score': 10.96}, {'connected_gene': 'CORT', 'score': 10.93}, {'connected_gene': 'RNU6-37P', 'score': 10.9}, {'connected_gene': 'RNU6-828P', 'score': 9.97}, {'connected_gene': 'LOC105376725', 'score': 0.39}, {'connected_gene': 'RN7SL731P', 'score': 0.25}]
chr1 GH01I010436 10436823 10437018 0.48 [{'connected_gene': 'PGD', 'score': 17.53}, {'connected_gene': 'KIF1B', 'score': 1.28}, {'connected_gene': 'ENSG00000271989', 'score': 0.44}, {'connected_gene': 'CENPS', 'score': 0.44}, {'connected_gene': 'CENPS-CORT', 'score': 0.44}, {'connected_gene': 'CORT', 'score': 0.39}]
chr1 GH01I010413 10413905 10416965 1.35 [{'connected_gene': 'PGD', 'score': 67.21}, {'connected_gene': 'CORT', 'score': 12.15}, {'connected_gene': 'PEX14', 'score': 10.61}, {'connected_gene': 'DFFA', 'score': 10.61}, {'connected_gene': 'CENPS', 'score': 0.39}, {'connected_gene': 'CENPS-CORT', 'score': 0.39}]
chr1 GH01I010283 10283289 10284230 0.64 [{'connected_gene': 'KIF1B', 'score': 11.97}, {'connected_gene': 'PGD', 'score': 10.75}, {'connected_gene': 'RNU6-828P', 'score': 10.7}, {'connected_gene': 'CENPS', 'score': 10.15}, {'connected_gene': 'CORT', 'score': 10.14}, {'connected_gene': 'DFFA', 'score': 9.58}, {'connected_gene': 'PEX14', 'score': 9.58}, {'connected_gene': 'UBE4B', 'score': 9.55}, {'connected_gene': 'GC01P010298', 'score': 0.37}, {'connected_gene': 'GC01M010233', 'score': 0.25}]
chr1 GH01I010449 10449981 10452175 1.08 [{'connected_gene': 'CORT', 'score': 550.77}, {'connected_gene': 'PGD', 'score': 25.11}, {'connected_gene': 'ENSG00000271989', 'score': 16.18}, {'connected_gene': 'CENPS-CORT', 'score': 12.32}, {'connected_gene': 'CENPS', 'score': 12.32}, {'connected_gene': 'DFFA', 'score': 11.58}, {'connected_gene': 'PEX14', 'score': 11.58}, {'connected_gene': 'C1orf127', 'score': 9.6}, {'connected_gene': 'ENSG00000203469', 'score': 0.44}]
chr1 GH01I010450 10449613 10449672 0.5 [{'connected_gene': 'CORT', 'score': 550.77}, {'connected_gene': 'ENSG00000271989', 'score': 15.9}, {'connected_gene': 'CENPS-CORT', 'score': 0.37}]