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
ENST00000235345 [[67465014, 67470131], [67474767, 67474850], [67486051, 67486130], [67487217, 67487285], [67507918, 67508011], [67512947, 67513050], [67515464, 67515533], [67516115, 67516187], [67517694, 67517762], [67518453, 67518540], [67518638, 67518672], [67519493, 67519782]] [[67470022, 67470131], [67474767, 67474850], [67486051, 67486130], [67487217, 67487285], [67507918, 67508011], [67512947, 67513050], [67515464, 67515533], [67516115, 67516187], [67517694, 67517762], [67518453, 67518540], [67518638, 67518672], [67519493, 67519696]]
ENST00000506472 [[67473196, 67474130], [67474767, 67474850], [67486051, 67486130], [67487217, 67487285], [67507918, 67508011], [67512947, 67513050], [67515464, 67515533], [67516115, 67516187], [67517694, 67517762], [67518453, 67518540], [67518638, 67518730]] [[67474069, 67474130], [67474767, 67474850], [67486051, 67486130], [67487217, 67487285], [67507918, 67508011], [67512947, 67513050], [67515464, 67515533], [67516115, 67516187], [67517694, 67517762], [67518453, 67518540]]
NM_015139 [[67465014, 67470131], [67474767, 67474850], [67486051, 67486130], [67487217, 67487285], [67507918, 67508011], [67512947, 67513050], [67515464, 67515533], [67516115, 67516187], [67517694, 67517762], [67518453, 67518540], [67518638, 67518672], [67519493, 67520080]] [[67470022, 67470131], [67474767, 67474850], [67486051, 67486130], [67487217, 67487285], [67507918, 67508011], [67512947, 67513050], [67515464, 67515533], [67516115, 67516187], [67517694, 67517762], [67518453, 67518540], [67518638, 67518672], [67519493, 67519696]]
Promoter
Chrom Start End Description
chr1 67519697 67519723 CAGE_peak_4_at_SLC35D1_5end
chr1 67519785 67519810 CAGE_peak_1_at_SLC35D1_5end
chr1 67519812 67519854 CAGE_peak_2_at_SLC35D1_5end
chr1 67520023 67520108 CAGE_peak_3_at_SLC35D1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I066939 66939899 66940262 0.2 [{'connected_gene': 'WDR78', 'score': 0.39}, {'connected_gene': 'MIER1', 'score': 0.37}, {'connected_gene': 'SLC35D1', 'score': 0.14}]
chr1 GH01I066943 66943242 66946214 0.94 [{'connected_gene': 'WDR78', 'score': 25.63}, {'connected_gene': 'MIER1', 'score': 5.37}, {'connected_gene': 'SLC35D1', 'score': 0.14}]
chr1 GH01I066980 66980601 66982566 0.84 [{'connected_gene': 'WDR78', 'score': 26.47}, {'connected_gene': 'MIER1', 'score': 9.92}, {'connected_gene': 'SLC35D1', 'score': 4.95}]
chr1 GH01I066923 66923362 66927648 2.28 [{'connected_gene': 'WDR78', 'score': 576.27}, {'connected_gene': 'MIER1', 'score': 571.17}, {'connected_gene': 'TCTEX1D1', 'score': 10.76}, {'connected_gene': 'SLC35D1', 'score': 0.13}]
chr1 GH01I067018 67018727 67020893 0.8 [{'connected_gene': 'WDR78', 'score': 25.21}, {'connected_gene': 'C1orf141', 'score': 10.93}, {'connected_gene': 'ENSG00000252433', 'score': 10.83}, {'connected_gene': 'MIER1', 'score': 9.91}, {'connected_gene': 'SLC35D1', 'score': 5.72}]
chr1 GH01I066954 66954547 66955841 0.82 [{'connected_gene': 'WDR78', 'score': 25.56}, {'connected_gene': 'SLC35D1', 'score': 4.73}, {'connected_gene': 'MIER1', 'score': 0.29}]
chr1 GH01I066996 66996118 66996307 0.76 [{'connected_gene': 'WDR78', 'score': 26.42}, {'connected_gene': 'ENSG00000252433', 'score': 10.22}, {'connected_gene': 'RNU6-586P', 'score': 9.7}, {'connected_gene': 'SLC35D1', 'score': 0.22}]
chr1 GH01I066937 66937201 66937600 0.52 [{'connected_gene': 'MIER1', 'score': 10.16}, {'connected_gene': 'WDR78', 'score': 0.39}, {'connected_gene': 'SLC35D1', 'score': 0.13}]
chr1 GH01I066938 66938401 66938800 0.49 [{'connected_gene': 'MIER1', 'score': 0.39}, {'connected_gene': 'WDR78', 'score': 0.39}, {'connected_gene': 'SLC35D1', 'score': 0.13}]
chr1 GH01I066936 66936401 66936600 0.67 [{'connected_gene': 'MIER1', 'score': 0.39}, {'connected_gene': 'WDR78', 'score': 0.39}, {'connected_gene': 'SLC35D1', 'score': 0.13}]
chr1 GH01I066951 66951638 66951787 0.2 [{'connected_gene': 'MIER1', 'score': 0.31}, {'connected_gene': 'WDR78', 'score': 0.31}, {'connected_gene': 'SLC35D1', 'score': 0.15}]
chr1 GH01I066929 66929009 66935932 2.26 [{'connected_gene': 'MIER1', 'score': 560.21}, {'connected_gene': 'WDR78', 'score': 25.7}, {'connected_gene': 'TCTEX1D1', 'score': 10.76}, {'connected_gene': 'SLC35D1', 'score': 5.0}]
chr1 GH01I066329 66329494 66338779 2.43 [{'connected_gene': 'PDE4B', 'score': 563.01}, {'connected_gene': 'MIER1', 'score': 9.7}, {'connected_gene': 'SLC35D1', 'score': 5.13}, {'connected_gene': 'GC01P066323', 'score': 0.39}, {'connected_gene': 'GC01P066373', 'score': 0.28}]
chr1 GH01I067052 67052136 67055027 2.05 [{'connected_gene': 'SLC35D1', 'score': 561.97}, {'connected_gene': 'WDR78', 'score': 4.26}]
chr1 GH01I067040 67040538 67040687 0.2 [{'connected_gene': 'SLC35D1', 'score': 0.39}, {'connected_gene': 'WDR78', 'score': 0.13}]
chr1 GH01I066940 66940409 66942859 0.52 [{'connected_gene': 'SLC35D1', 'score': 4.71}, {'connected_gene': 'MIER1', 'score': 0.37}, {'connected_gene': 'WDR78', 'score': 0.37}]
chr1 GH01I067162 67162439 67163687 0.8 [{'connected_gene': 'SLC35D1', 'score': 5.9}, {'connected_gene': 'GC01P067166', 'score': 0.77}, {'connected_gene': 'IL23R', 'score': 0.34}, {'connected_gene': 'C1orf141', 'score': 0.2}]
chr1 GH01I066433 66433718 66434550 0.2 [{'connected_gene': 'SLC35D1', 'score': 4.61}, {'connected_gene': 'GC01P066439', 'score': 0.44}, {'connected_gene': 'LOC105378776', 'score': 0.37}]
chr1 GH01I066401 66401783 66403646 1.4 [{'connected_gene': 'SLC35D1', 'score': 4.61}, {'connected_gene': 'LOC105378776', 'score': 0.39}, {'connected_gene': 'GC01P066373', 'score': 0.31}]
chr1 GH01I067060 67060065 67061815 1.01 [{'connected_gene': 'SLC35D1', 'score': 11.29}, {'connected_gene': 'GC01P067080', 'score': 0.37}]
chr1 GH01I067534 67534228 67536433 1.43 [{'connected_gene': 'GADD45A', 'score': 11.15}, {'connected_gene': 'RNU7-80P', 'score': 10.93}, {'connected_gene': 'GNG12-AS1', 'score': 9.67}, {'connected_gene': 'GNG12', 'score': 9.67}, {'connected_gene': 'SLC35D1', 'score': 2.07}, {'connected_gene': 'GC01P067542', 'score': 0.44}, {'connected_gene': 'LINC01702', 'score': 0.39}]
chr1 GH01I067137 67137017 67139957 0.62 [{'connected_gene': 'IL23R', 'score': 550.77}, {'connected_gene': 'C1orf141', 'score': 12.0}, {'connected_gene': 'ENSG00000252433', 'score': 10.84}, {'connected_gene': 'RNU6-586P', 'score': 10.79}, {'connected_gene': 'SLC35D1', 'score': 8.9}, {'connected_gene': 'ENSG00000275678', 'score': 0.39}]
chr1 GH01I067194 67194148 67195646 0.97 [{'connected_gene': 'RNU6-586P', 'score': 550.77}, {'connected_gene': 'C1orf141', 'score': 6.18}, {'connected_gene': 'IL23R', 'score': 5.89}, {'connected_gene': 'SLC35D1', 'score': 3.12}, {'connected_gene': 'WDR78', 'score': 2.66}, {'connected_gene': 'IL12RB2', 'score': 2.32}, {'connected_gene': 'MIER1', 'score': 2.0}, {'connected_gene': 'INSL5', 'score': 1.31}, {'connected_gene': 'GC01M067171', 'score': 0.34}]
chr1 GH01I067337 67336319 67336433 0.22 [{'connected_gene': 'RNU4ATAC4P', 'score': 10.36}, {'connected_gene': 'SERBP1', 'score': 10.33}, {'connected_gene': 'IL12RB2', 'score': 3.2}, {'connected_gene': 'MIER1', 'score': 2.67}, {'connected_gene': 'SLC35D1', 'score': 2.0}, {'connected_gene': 'IL23R', 'score': 1.39}, {'connected_gene': 'LOC105378779', 'score': 0.21}]
chr1 GH01I067028 67028538 67028678 0.23 [{'connected_gene': 'ENSG00000252433', 'score': 10.62}, {'connected_gene': 'SLC35D1', 'score': 5.95}, {'connected_gene': 'MIER1', 'score': 2.97}, {'connected_gene': 'WDR78', 'score': 0.15}]
chr1 GH01I067165 67165600 67167904 1.29 [{'connected_gene': 'GC01P067166', 'score': 550.77}, {'connected_gene': 'IL23R', 'score': 550.31}, {'connected_gene': 'C1orf141', 'score': 7.76}, {'connected_gene': 'SLC35D1', 'score': 5.88}, {'connected_gene': 'GC01M067171', 'score': 0.44}]
chr1 GH01I067001 67001903 67002392 0.38 [{'connected_gene': 'ENSG00000252433', 'score': 9.76}, {'connected_gene': 'RNU6-586P', 'score': 9.54}, {'connected_gene': 'SLC35D1', 'score': 0.23}, {'connected_gene': 'WDR78', 'score': 0.18}]