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
ENST00000265968 [[19203577, 19204293], [19206498, 19206592], [19207762, 19207895], [19209682, 19209851], [19213883, 19214023], [19223500, 19223589]] [[19204216, 19204293], [19206498, 19206592], [19207762, 19207895], [19209682, 19209851], [19213883, 19213995]]
ENST00000533783 [[19203586, 19204293], [19206498, 19206592], [19207762, 19207895], [19209682, 19209851], [19213883, 19214023], [19223500, 19223589], [19231996, 19232120]] [[19204216, 19204293], [19206498, 19206592], [19207762, 19207895], [19209682, 19209851], [19213883, 19213995]]
NM_003476 [[19203576, 19204293], [19206498, 19206592], [19207762, 19207895], [19209682, 19209851], [19213883, 19214023], [19223500, 19223589], [19231996, 19232118]] [[19204216, 19204293], [19206498, 19206592], [19207762, 19207895], [19209682, 19209851], [19213883, 19213995]]
Promoter
Chrom Start End Description
chr11 19223523 19223541 CAGE_peak_1_at_CSRP3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I019198 19197946 19202859 1.44 [{'connected_gene': 'CSRP3', 'score': 550.39}, {'connected_gene': 'E2F8', 'score': 6.93}, {'connected_gene': 'ENSG00000255308', 'score': 0.77}]
chr11 GH11I019234 19234014 19234040 0.4 [{'connected_gene': 'E2F8', 'score': 0.44}, {'connected_gene': 'CSRP3', 'score': 0.34}, {'connected_gene': 'ENSG00000255308', 'score': 0.28}]
chr11 GH11I019235 19234269 19235288 0.31 [{'connected_gene': 'E2F8', 'score': 0.44}, {'connected_gene': 'CSRP3', 'score': 0.34}, {'connected_gene': 'ENSG00000255308', 'score': 0.28}]
chr11 GH11I019232 19232010 19233663 1 [{'connected_gene': 'E2F8', 'score': 0.44}, {'connected_gene': 'CSRP3', 'score': 0.34}, {'connected_gene': 'ENSG00000255308', 'score': 0.28}]
chr11 GH11I019206 19206385 19210096 0.71 [{'connected_gene': 'E2F8', 'score': 6.96}, {'connected_gene': 'CSRP3', 'score': 0.77}, {'connected_gene': 'ENSG00000255308', 'score': 0.39}]
chr11 GH11I019216 19216805 19220451 0.96 [{'connected_gene': 'E2F8', 'score': 19.21}, {'connected_gene': 'ENSG00000255308', 'score': 12.72}, {'connected_gene': 'ZDHHC13', 'score': 10.15}, {'connected_gene': 'CSRP3', 'score': 0.44}]
chr11 GH11I019236 19236180 19245260 2.42 [{'connected_gene': 'E2F8', 'score': 550.77}, {'connected_gene': 'SPTY2D1', 'score': 26.54}, {'connected_gene': 'ENSG00000256361', 'score': 12.67}, {'connected_gene': 'ENSG00000256588', 'score': 12.66}, {'connected_gene': 'TSG101', 'score': 11.34}, {'connected_gene': 'ZDHHC13', 'score': 10.67}, {'connected_gene': 'LOC105376580', 'score': 6.78}, {'connected_gene': 'CSRP3', 'score': 0.29}, {'connected_gene': 'ENSG00000255308', 'score': 0.26}]
chr11 GH11I019172 19172537 19174989 1.16 [{'connected_gene': 'ZDHHC13', 'score': 14.99}, {'connected_gene': 'ENSG00000255308', 'score': 12.31}, {'connected_gene': 'CSRP3', 'score': 11.93}, {'connected_gene': 'GC11P019191', 'score': 0.37}]
chr11 GH11I019183 19183947 19186544 0.43 [{'connected_gene': 'GTF2H1', 'score': 4.15}, {'connected_gene': 'GC11P019191', 'score': 0.44}, {'connected_gene': 'CSRP3', 'score': 0.31}, {'connected_gene': 'ZDHHC13', 'score': 0.2}]
chr11 GH11I019228 19228390 19230925 0.51 [{'connected_gene': 'LOC105376580', 'score': 4.73}, {'connected_gene': 'E2F8', 'score': 0.39}, {'connected_gene': 'CSRP3', 'score': 0.37}, {'connected_gene': 'ENSG00000255308', 'score': 0.29}]
chr11 GH11I019192 19192792 19195374 0.38 [{'connected_gene': 'LOC105376579', 'score': 6.61}, {'connected_gene': 'ENSG00000255308', 'score': 0.77}, {'connected_gene': 'GC11P019191', 'score': 0.77}, {'connected_gene': 'CSRP3', 'score': 0.37}]
chr11 GH11I019187 19187954 19188083 0.66 [{'connected_gene': 'GC11P019191', 'score': 0.77}, {'connected_gene': 'CSRP3', 'score': 0.34}, {'connected_gene': 'ZDHHC13', 'score': 0.19}]
chr11 GH11I019197 19197561 19197912 0.38 [{'connected_gene': 'ENSG00000255308', 'score': 550.77}, {'connected_gene': 'CSRP3', 'score': 0.39}]
chr11 GH11I019220 19220814 19222368 0.71 [{'connected_gene': 'ENSG00000255308', 'score': 11.42}, {'connected_gene': 'ZDHHC13', 'score': 9.96}, {'connected_gene': 'CSRP3', 'score': 0.39}, {'connected_gene': 'E2F8', 'score': 0.34}]
chr11 GH11I019224 19224564 19226331 0.38 [{'connected_gene': 'ENSG00000255308', 'score': 11.39}, {'connected_gene': 'ZDHHC13', 'score': 10.23}, {'connected_gene': 'E2F8', 'score': 6.3}, {'connected_gene': 'CSRP3', 'score': 0.39}]
chr11 GH11I019191 19191309 19192375 0.79 [{'connected_gene': 'GC11P019191', 'score': 550.77}, {'connected_gene': 'LOC105376579', 'score': 6.55}, {'connected_gene': 'CSRP3', 'score': 0.37}, {'connected_gene': 'ZDHHC13', 'score': 0.19}]
chr11 GH11I019196 19196054 19197122 0.63 [{'connected_gene': 'ENSG00000255308', 'score': 550.77}, {'connected_gene': 'LOC105376579', 'score': 6.84}, {'connected_gene': 'GC11P019191', 'score': 0.77}, {'connected_gene': 'CSRP3', 'score': 0.39}]