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
ENST00000232905 [[40351174, 40351463], [40352383, 40352547], [40352960, 40353062], [40353460, 40353915]] [[40351432, 40351463], [40352383, 40352547], [40352960, 40353062], [40353460, 40353505]]
ENST00000462088 [[40351212, 40351463], [40352383, 40353005]] None
ENST00000488260 [[40351316, 40351463], [40352383, 40352547], [40352960, 40353286]] None
ENST00000487151 [[40352118, 40352547], [40352960, 40353163]] None
NM_005875 [[40351172, 40351463], [40352383, 40352547], [40352960, 40353062], [40353460, 40353915]] [[40351432, 40351463], [40352383, 40352547], [40352960, 40353062], [40353460, 40353505]]
Promoter
Chrom Start End Description
chr3 40351169 40351206 CAGE_peak_1_at_EIF1B_5end
chr3 40351210 40351226 CAGE_peak_4_at_EIF1B_5end
chr3 40351254 40351275 CAGE_peak_2_at_EIF1B_5end
chr3 40351285 40351300 CAGE_peak_3_at_EIF1B_5end
chr3 40352369 40352380 CAGE_peak_5_at_EIF1B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I040292 40292669 40292936 0.83 [{'connected_gene': 'ENTPD3-AS1', 'score': 16.02}, {'connected_gene': 'ENSG00000202517', 'score': 11.03}, {'connected_gene': 'EIF1B', 'score': 4.85}, {'connected_gene': 'EIF1B-AS1', 'score': 0.37}, {'connected_gene': 'GC03P040264', 'score': 0.31}]
chr3 GH03I040267 40267525 40268530 0.59 [{'connected_gene': 'ENTPD3-AS1', 'score': 18.1}, {'connected_gene': 'ENSG00000202517', 'score': 11.8}, {'connected_gene': 'GC03P040264', 'score': 0.77}, {'connected_gene': 'EIF1B', 'score': 0.26}, {'connected_gene': 'EIF1B-AS1', 'score': 0.26}]
chr3 GH03I040230 40230077 40230336 0.27 [{'connected_gene': 'ENTPD3-AS1', 'score': 11.54}, {'connected_gene': 'EIF1B', 'score': 9.88}, {'connected_gene': 'GC03P040238', 'score': 0.44}, {'connected_gene': 'RN7SL411P', 'score': 0.34}, {'connected_gene': 'EIF1B-AS1', 'score': 0.18}, {'connected_gene': 'MYRIP', 'score': 0.05}]
chr3 GH03I040207 40207851 40208282 0.45 [{'connected_gene': 'RN7SL411P', 'score': 550.77}, {'connected_gene': 'ENTPD3-AS1', 'score': 12.56}, {'connected_gene': 'ENSG00000202517', 'score': 11.49}, {'connected_gene': 'EIF1B', 'score': 5.66}, {'connected_gene': 'LOC105377645', 'score': 0.44}, {'connected_gene': 'EIF1B-AS1', 'score': 0.15}, {'connected_gene': 'MYRIP', 'score': 0.05}]
chr3 GH03I040208 40208461 40208540 0.24 [{'connected_gene': 'RN7SL411P', 'score': 550.77}, {'connected_gene': 'ENSG00000202517', 'score': 11.49}, {'connected_gene': 'EIF1B', 'score': 7.98}, {'connected_gene': 'LOC105377645', 'score': 0.44}, {'connected_gene': 'EIF1B-AS1', 'score': 0.15}, {'connected_gene': 'MYRIP', 'score': 0.05}]
chr3 GH03I040308 40308673 40311601 2.07 [{'connected_gene': 'EIF1B', 'score': 550.77}, {'connected_gene': 'EIF1B-AS1', 'score': 550.77}, {'connected_gene': 'SNORA62', 'score': 22.35}, {'connected_gene': 'ENTPD3-AS1', 'score': 18.66}, {'connected_gene': 'ZNF619', 'score': 10.69}, {'connected_gene': 'RPL14', 'score': 4.63}, {'connected_gene': 'PGAM1P3', 'score': 0.39}]
chr3 GH03I040306 40306700 40306824 0.24 [{'connected_gene': 'EIF1B', 'score': 0.77}, {'connected_gene': 'EIF1B-AS1', 'score': 0.77}, {'connected_gene': 'GC03P040264', 'score': 0.26}]
chr3 GH03I040298 40298955 40300908 1.47 [{'connected_gene': 'EIF1B', 'score': 11.45}, {'connected_gene': 'ENTPD3-AS1', 'score': 11.17}, {'connected_gene': 'EIF1B-AS1', 'score': 0.44}, {'connected_gene': 'GC03P040264', 'score': 0.28}]
chr3 GH03I040210 40210994 40211194 0.24 [{'connected_gene': 'EIF1B', 'score': 13.43}, {'connected_gene': 'ENTPD3-AS1', 'score': 12.71}, {'connected_gene': 'ENSG00000202517', 'score': 11.9}, {'connected_gene': 'RN7SL411P', 'score': 0.77}, {'connected_gene': 'GC03P040238', 'score': 0.31}, {'connected_gene': 'EIF1B-AS1', 'score': 0.15}, {'connected_gene': 'MYRIP', 'score': 0.05}]
chr3 GH03I040229 40229322 40229751 0.49 [{'connected_gene': 'EIF1B', 'score': 5.97}, {'connected_gene': 'GC03P040238', 'score': 0.44}, {'connected_gene': 'RN7SL411P', 'score': 0.34}, {'connected_gene': 'EIF1B-AS1', 'score': 0.18}, {'connected_gene': 'MYRIP', 'score': 0.05}]
chr3 GH03I040192 40192770 40192919 0.64 [{'connected_gene': 'EIF1B', 'score': 11.72}, {'connected_gene': 'ENSG00000202517', 'score': 11.42}, {'connected_gene': 'LOC105377645', 'score': 0.44}, {'connected_gene': 'EIF1B-AS1', 'score': 0.13}, {'connected_gene': 'GC03M040043', 'score': 0.12}, {'connected_gene': 'MYRIP', 'score': 0.05}]