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
ENST00000482640 [[158363610, 158363998], [158384800, 158384863], [158386784, 158386921], [158387221, 158387382]] [[158363887, 158363998], [158384800, 158384863], [158386784, 158386921], [158387221, 158387382]]
ENST00000264265 [[158384202, 158384533], [158384800, 158384863], [158386784, 158386921], [158387221, 158387399], [158388745, 158388808], [158390138, 158390482]] [[158384434, 158384533], [158384800, 158384863], [158386784, 158386921], [158387221, 158387399], [158388745, 158388808], [158390138, 158390267]]
NM_020169 [[158384202, 158384533], [158384800, 158384863], [158386784, 158386921], [158387221, 158387399], [158388745, 158388808], [158390138, 158390482]] [[158384434, 158384533], [158384800, 158384863], [158386784, 158386921], [158387221, 158387399], [158388745, 158388808], [158390138, 158390267]]
Promoter
Chrom Start End Description
chr3 158390171 158390180 CAGE_peak_3_at_LXN_5end
chr3 158390282 158390521 CAGE_peak_1_at_LXN_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I158700 158700232 158704538 0.72 [{'connected_gene': 'GFM1', 'score': 27.3}, {'connected_gene': 'ENSG00000240207', 'score': 21.64}, {'connected_gene': 'MFSD1', 'score': 19.07}, {'connected_gene': 'LXN', 'score': 11.77}, {'connected_gene': 'RARRES1', 'score': 11.51}, {'connected_gene': 'MLF1', 'score': 10.04}, {'connected_gene': 'ENSG00000272440', 'score': 0.44}, {'connected_gene': 'PIR52872', 'score': 0.39}]
chr3 GH03I158683 158683712 158683861 0.31 [{'connected_gene': 'GFM1', 'score': 22.35}, {'connected_gene': 'ENSG00000272087', 'score': 0.44}, {'connected_gene': 'LXN', 'score': 0.39}]
chr3 GH03I158658 158658714 158661710 0.72 [{'connected_gene': 'GFM1', 'score': 27.47}, {'connected_gene': 'MLF1', 'score': 21.26}, {'connected_gene': 'ENSG00000240207', 'score': 19.93}, {'connected_gene': 'RARRES1', 'score': 11.56}, {'connected_gene': 'MFSD1', 'score': 11.56}, {'connected_gene': 'LXN', 'score': 0.39}]
chr3 GH03I158668 158668632 158668801 0.2 [{'connected_gene': 'GFM1', 'score': 27.44}, {'connected_gene': 'MLF1', 'score': 5.48}, {'connected_gene': 'LXN', 'score': 0.77}]
chr3 GH03I158684 158684792 158685937 0.38 [{'connected_gene': 'GFM1', 'score': 27.37}, {'connected_gene': 'MLF1', 'score': 21.49}, {'connected_gene': 'ENSG00000240207', 'score': 8.62}, {'connected_gene': 'ENSG00000272087', 'score': 0.44}, {'connected_gene': 'LXN', 'score': 0.39}]
chr3 GH03I158643 158643860 158645655 2.1 [{'connected_gene': 'GFM1', 'score': 577.87}, {'connected_gene': 'MLF1', 'score': 21.28}, {'connected_gene': 'ENSG00000271778', 'score': 13.01}, {'connected_gene': 'ENSG00000272440', 'score': 11.65}, {'connected_gene': 'ENSG00000240207', 'score': 10.12}, {'connected_gene': 'LXN', 'score': 0.31}]
chr3 GH03I158789 158789601 158789801 0.82 [{'connected_gene': 'RARRES1', 'score': 12.95}, {'connected_gene': 'MFSD1', 'score': 12.95}, {'connected_gene': 'ENSG00000240207', 'score': 12.95}, {'connected_gene': 'LXN', 'score': 10.48}, {'connected_gene': 'ENSG00000271778', 'score': 0.44}, {'connected_gene': 'ENSG00000272247', 'score': 0.39}]
chr3 GH03I158669 158669945 158673505 1.85 [{'connected_gene': 'LXN', 'score': 555.86}, {'connected_gene': 'GFM1', 'score': 27.42}, {'connected_gene': 'MLF1', 'score': 21.24}, {'connected_gene': 'ENSG00000240207', 'score': 10.16}]
chr3 GH03I159418 159418020 159419465 0.49 [{'connected_gene': 'LXN', 'score': 3.88}, {'connected_gene': 'RPS2P19', 'score': 0.29}, {'connected_gene': 'SCHIP1', 'score': 0.11}, {'connected_gene': 'LOC100420738', 'score': 0.06}, {'connected_gene': 'IQCJ-SCHIP1', 'score': 0.05}]
chr3 GH03I158109 158109450 158111294 2.1 [{'connected_gene': 'RSRC1', 'score': 560.65}, {'connected_gene': 'CCNL1', 'score': 15.76}, {'connected_gene': 'LXN', 'score': 10.15}, {'connected_gene': 'SHOX2', 'score': 0.77}, {'connected_gene': 'GC03M158221', 'score': 0.14}]
chr3 GH03I158792 158792034 158793580 0.73 [{'connected_gene': 'MLF1', 'score': 21.9}, {'connected_gene': 'ENSG00000240207', 'score': 11.89}, {'connected_gene': 'RARRES1', 'score': 11.89}, {'connected_gene': 'MFSD1', 'score': 11.89}, {'connected_gene': 'LXN', 'score': 11.41}, {'connected_gene': 'GFM1', 'score': 11.19}, {'connected_gene': 'LOC100996447', 'score': 9.78}, {'connected_gene': 'ENSG00000271778', 'score': 7.91}, {'connected_gene': 'ENSG00000272247', 'score': 0.44}]
chr3 GH03I158715 158715760 158728541 1.7 [{'connected_gene': 'ENSG00000240207', 'score': 31.11}, {'connected_gene': 'GFM1', 'score': 22.63}, {'connected_gene': 'MLF1', 'score': 19.47}, {'connected_gene': 'LXN', 'score': 11.03}, {'connected_gene': 'MFSD1', 'score': 10.58}, {'connected_gene': 'ENSG00000272247', 'score': 3.96}, {'connected_gene': 'PIR52872', 'score': 0.44}, {'connected_gene': 'RARRES1', 'score': 0.39}]
chr3 GH03I158709 158709071 158714400 1.37 [{'connected_gene': 'ENSG00000240207', 'score': 44.07}, {'connected_gene': 'GFM1', 'score': 22.81}, {'connected_gene': 'MLF1', 'score': 17.51}, {'connected_gene': 'LXN', 'score': 16.57}, {'connected_gene': 'RARRES1', 'score': 12.75}, {'connected_gene': 'MFSD1', 'score': 12.75}, {'connected_gene': 'ENSG00000272247', 'score': 5.06}, {'connected_gene': 'PIR52872', 'score': 0.77}, {'connected_gene': 'ENSG00000272440', 'score': 0.37}]
chr3 GH03I158791 158791001 158791723 1.22 [{'connected_gene': 'ENSG00000240207', 'score': 11.9}, {'connected_gene': 'RARRES1', 'score': 11.9}, {'connected_gene': 'MFSD1', 'score': 11.9}, {'connected_gene': 'LXN', 'score': 11.41}, {'connected_gene': 'GFM1', 'score': 11.19}, {'connected_gene': 'MLF1', 'score': 9.78}, {'connected_gene': 'LOC100996447', 'score': 9.78}, {'connected_gene': 'ENSG00000271778', 'score': 0.44}, {'connected_gene': 'ENSG00000272247', 'score': 0.39}]
chr3 GH03I158788 158788238 158789321 0.66 [{'connected_gene': 'ENSG00000271778', 'score': 16.58}, {'connected_gene': 'RARRES1', 'score': 12.95}, {'connected_gene': 'MFSD1', 'score': 12.95}, {'connected_gene': 'ENSG00000240207', 'score': 12.95}, {'connected_gene': 'LXN', 'score': 10.48}, {'connected_gene': 'GFM1', 'score': 7.0}, {'connected_gene': 'ENSG00000272247', 'score': 0.39}]
chr3 GH03I158767 158767381 158775583 1.92 [{'connected_gene': 'ENSG00000240207', 'score': 22.94}, {'connected_gene': 'ENSG00000271778', 'score': 16.94}, {'connected_gene': 'RARRES1', 'score': 12.62}, {'connected_gene': 'MFSD1', 'score': 12.62}, {'connected_gene': 'MLF1', 'score': 12.38}, {'connected_gene': 'ENSG00000272247', 'score': 11.81}, {'connected_gene': 'GFM1', 'score': 7.02}, {'connected_gene': 'LXN', 'score': 6.64}, {'connected_gene': 'PIR51214', 'score': 0.77}, {'connected_gene': 'ENSG00000243675', 'score': 0.44}, {'connected_gene': 'LOC100287290', 'score': 0.28}]
chr3 GH03I158781 158781228 158782884 0.7 [{'connected_gene': 'ENSG00000271778', 'score': 566.91}, {'connected_gene': 'MLF1', 'score': 14.02}, {'connected_gene': 'ENSG00000240207', 'score': 11.78}, {'connected_gene': 'RARRES1', 'score': 11.78}, {'connected_gene': 'MFSD1', 'score': 11.78}, {'connected_gene': 'LXN', 'score': 10.73}, {'connected_gene': 'PIR51214', 'score': 0.44}, {'connected_gene': 'LOC100287290', 'score': 0.25}]