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
ENST00000532354 [[6340175, 6340794], [6340886, 6341292]] None
ENST00000303927 [[6340175, 6340794], [6341322, 6341877]] [[6340392, 6340794], [6341322, 6341706]]
ENST00000524852 [[6340359, 6340901], [6341322, 6341385]] None
ENST00000530979 [[6340373, 6340794], [6340886, 6340982], [6341322, 6341762]] [[6340392, 6340794], [6340886, 6340982], [6341322, 6341706]]
Promoter
Chrom Start End Description
chr11 6340965 6340985 CAGE_peak_3_at_PRKCDBP_5end
chr11 6340994 6341012 CAGE_peak_2_at_PRKCDBP_5end
chr11 6341016 6341030 CAGE_peak_4_at_PRKCDBP_5end
chr11 6341050 6341059 CAGE_peak_7_at_PRKCDBP_5end
chr11 6341110 6341122 CAGE_peak_6_at_PRKCDBP_5end
chr11 6341147 6341156 CAGE_peak_14_at_PRKCDBP_5end
chr11 6341282 6341323 CAGE_peak_5_at_PRKCDBP_5end
chr11 6341326 6341337 CAGE_peak_12_at_PRKCDBP_5end
chr11 6341347 6341357 CAGE_peak_11_at_PRKCDBP_5end
chr11 6341724 6341760 CAGE_peak_1_at_PRKCDBP_5end
chr11 6341844 6341852 CAGE_peak_9_at_PRKCDBP_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I006281 6281340 6282160 0.59 [{'connected_gene': 'CCKBR', 'score': 11.05}, {'connected_gene': 'CAVIN3', 'score': 10.35}, {'connected_gene': 'OR52B2', 'score': 9.95}, {'connected_gene': 'OR56A1', 'score': 9.76}, {'connected_gene': 'FAM160A2', 'score': 9.6}, {'connected_gene': 'C11orf42', 'score': 9.54}, {'connected_gene': 'OR52W1', 'score': 9.53}, {'connected_gene': 'GC11M006277', 'score': 0.77}, {'connected_gene': 'ENSG00000270435', 'score': 0.37}]
chr11 GH11I006218 6218574 6220117 0.79 [{'connected_gene': 'FAM160A2', 'score': 16.72}, {'connected_gene': 'OR52B2', 'score': 9.44}, {'connected_gene': 'CAVIN3', 'score': 9.06}, {'connected_gene': 'TPP1', 'score': 5.61}, {'connected_gene': 'C11orf42', 'score': 0.39}]
chr11 GH11I006427 6427512 6428021 0.38 [{'connected_gene': 'SMPD1', 'score': 10.97}, {'connected_gene': 'CAVIN3', 'score': 9.07}, {'connected_gene': 'APBB1', 'score': 0.44}, {'connected_gene': 'HPX', 'score': 0.39}]
chr11 GH11I006400 6400611 6406128 1.68 [{'connected_gene': 'APBB1', 'score': 557.12}, {'connected_gene': 'SMPD1', 'score': 13.39}, {'connected_gene': 'HPX', 'score': 10.85}, {'connected_gene': 'TIMM10B', 'score': 10.26}, {'connected_gene': 'ARFIP2', 'score': 10.26}, {'connected_gene': 'CAVIN3', 'score': 9.44}, {'connected_gene': 'GC11P006400', 'score': 0.77}, {'connected_gene': 'PIR40798', 'score': 0.44}]
chr11 GH11I006371 6371635 6372302 0.38 [{'connected_gene': 'APBB1', 'score': 11.99}, {'connected_gene': 'CAVIN3', 'score': 10.16}, {'connected_gene': 'TIMM10B', 'score': 9.54}, {'connected_gene': 'ARFIP2', 'score': 9.54}, {'connected_gene': 'OR56A1', 'score': 9.33}, {'connected_gene': 'ENSG00000254443', 'score': 0.44}, {'connected_gene': 'SMPD1', 'score': 0.37}]
chr11 GH11I006217 6217356 6217666 0.2 [{'connected_gene': 'OR52B2', 'score': 9.44}, {'connected_gene': 'CAVIN3', 'score': 9.06}, {'connected_gene': 'C11orf42', 'score': 0.39}, {'connected_gene': 'FAM160A2', 'score': 0.37}]
chr11 GH11I006601 6601303 6613689 2.31 [{'connected_gene': 'RRP8', 'score': 588.3}, {'connected_gene': 'ILK', 'score': 569.17}, {'connected_gene': 'TAF10', 'score': 550.44}, {'connected_gene': 'FAM160A2', 'score': 23.84}, {'connected_gene': 'DNHD1', 'score': 13.41}, {'connected_gene': 'ENSG00000254641', 'score': 12.85}, {'connected_gene': 'DCHS1', 'score': 10.6}, {'connected_gene': 'CAVIN3', 'score': 10.31}, {'connected_gene': 'ENSG00000254400', 'score': 0.77}, {'connected_gene': 'PIR55036', 'score': 0.44}, {'connected_gene': 'TPP1', 'score': 0.39}]
chr11 GH11I006239 6239040 6239099 0.61 [{'connected_gene': 'CNGA4', 'score': 550.77}, {'connected_gene': 'CCKBR', 'score': 11.19}, {'connected_gene': 'C11orf42', 'score': 10.9}, {'connected_gene': 'OR52W1', 'score': 10.88}, {'connected_gene': 'CAVIN3', 'score': 9.54}, {'connected_gene': 'GC11M006236', 'score': 0.44}]
chr11 GH11I006328 6328531 6328680 0.2 [{'connected_gene': 'OR56A1', 'score': 9.83}, {'connected_gene': 'GC11M006313', 'score': 0.77}, {'connected_gene': 'CAVIN3', 'score': 0.44}, {'connected_gene': 'LOC101927825', 'score': 0.39}]
chr11 GH11I006287 6287609 6289692 0.57 [{'connected_gene': 'CAVIN3', 'score': 11.29}, {'connected_gene': 'CCKBR', 'score': 10.99}, {'connected_gene': 'FAM160A2', 'score': 10.16}, {'connected_gene': 'C11orf42', 'score': 9.99}, {'connected_gene': 'OR52W1', 'score': 9.98}, {'connected_gene': 'OR52B2', 'score': 9.98}, {'connected_gene': 'OR56A1', 'score': 9.91}, {'connected_gene': 'ENSG00000270435', 'score': 0.44}, {'connected_gene': 'GC11M006277', 'score': 0.39}]
chr11 GH11I006317 6317426 6324382 1.52 [{'connected_gene': 'CAVIN3', 'score': 575.28}, {'connected_gene': 'FAM160A2', 'score': 16.15}, {'connected_gene': 'RRP8', 'score': 12.01}, {'connected_gene': 'OR56A1', 'score': 9.84}, {'connected_gene': 'TAF10', 'score': 5.19}, {'connected_gene': 'LOC101927825', 'score': 0.77}, {'connected_gene': 'GC11M006313', 'score': 0.39}]
chr11 GH11I006354 6354628 6355409 0.56 [{'connected_gene': 'CAVIN3', 'score': 11.36}, {'connected_gene': 'OR52N2', 'score': 4.39}, {'connected_gene': 'ENSG00000254443', 'score': 0.44}, {'connected_gene': 'PIR52604', 'score': 0.44}]
chr11 GH11I006325 6325818 6328466 0.2 [{'connected_gene': 'CAVIN3', 'score': 11.83}, {'connected_gene': 'OR56A1', 'score': 9.83}, {'connected_gene': 'GC11M006313', 'score': 0.44}, {'connected_gene': 'LOC101927825', 'score': 0.44}]
chr11 GH11I006356 6356379 6358380 0.92 [{'connected_gene': 'CAVIN3', 'score': 10.26}, {'connected_gene': 'ENSG00000254443', 'score': 0.44}, {'connected_gene': 'PIR52604', 'score': 0.39}]
chr11 GH11I006315 6315735 6316228 0.82 [{'connected_gene': 'LOC101927825', 'score': 550.77}, {'connected_gene': 'OR56A1', 'score': 10.07}, {'connected_gene': 'OR52B2', 'score': 9.17}, {'connected_gene': 'CAVIN3', 'score': 6.94}, {'connected_gene': 'ENSG00000270435', 'score': 0.37}, {'connected_gene': 'GC11M006313', 'score': 0.37}]
chr11 GH11I006249 6249588 6250663 1.02 [{'connected_gene': 'GC11M006236', 'score': 550.77}, {'connected_gene': 'C11orf42', 'score': 10.87}, {'connected_gene': 'OR52W1', 'score': 10.86}, {'connected_gene': 'CAVIN3', 'score': 10.45}, {'connected_gene': 'OR56A1', 'score': 9.51}, {'connected_gene': 'CCKBR', 'score': 0.44}]
chr11 GH11I006362 6362205 6363821 0.83 [{'connected_gene': 'ENSG00000254443', 'score': 550.77}, {'connected_gene': 'CAVIN3', 'score': 11.89}, {'connected_gene': 'SMPD1', 'score': 11.61}, {'connected_gene': 'APBB1', 'score': 11.52}, {'connected_gene': 'OR56A1', 'score': 10.0}]
chr11 GH11I006298 6298711 6298860 0.49 [{'connected_gene': 'ENSG00000270435', 'score': 550.77}, {'connected_gene': 'CAVIN3', 'score': 11.04}, {'connected_gene': 'OR56A1', 'score': 9.35}, {'connected_gene': 'LOC101927825', 'score': 0.37}]