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
ENST00000491959 [[101818087, 101818125], [101820349, 101820415], [101947189, 101947258], [101947984, 101948185], [102102633, 102102738], [102103970, 102104161], [102111013, 102111069], [102136903, 102137051], [102157323, 102157437], [102171762, 102171983], [102175036, 102175218], [102176624, 102176697], [102181124, 102181222], [102183014, 102183095], [102187807, 102187979], [102189237, 102189346], [102195855, 102195885], [102196286, 102196521]] [[102157331, 102157437], [102171762, 102171983], [102175036, 102175218], [102176624, 102176697], [102181124, 102181222], [102183014, 102183095], [102187807, 102187979], [102189237, 102189346], [102195855, 102195885], [102196286, 102196462]]
ENST00000478083 [[101894526, 101894652], [101911187, 101911575], [102017008, 102017017]] None
ENST00000306176 [[102153858, 102153998], [102157323, 102157437], [102171762, 102171983], [102175036, 102175218], [102176624, 102176697], [102181124, 102181222], [102183014, 102183095], [102187807, 102187979], [102189237, 102189346], [102195855, 102195885], [102196286, 102198685]] [[102153958, 102153998], [102157323, 102157437], [102171762, 102171983], [102175036, 102175218], [102176624, 102176697], [102181124, 102181222], [102183014, 102183095], [102187807, 102187979], [102189237, 102189346], [102195855, 102195885], [102196286, 102196462]]
ENST00000466937 [[102153876, 102153998], [102155703, 102155817], [102157323, 102157437], [102171762, 102171983], [102175036, 102175218], [102176624, 102176697], [102181124, 102181222], [102183014, 102183095], [102187807, 102187979], [102189237, 102189346], [102195855, 102195885], [102196286, 102196501]] [[102157331, 102157437], [102171762, 102171983], [102175036, 102175218], [102176624, 102176697], [102181124, 102181222], [102183014, 102183095], [102187807, 102187979], [102189237, 102189346], [102195855, 102195885], [102196286, 102196462]]
NM_175056 [[102153858, 102153998], [102157323, 102157437], [102171762, 102171983], [102175036, 102175218], [102176624, 102176697], [102181124, 102181222], [102183014, 102183095], [102187807, 102187979], [102189237, 102189346], [102195855, 102195885], [102196286, 102198685]] [[102153958, 102153998], [102157323, 102157437], [102171762, 102171983], [102175036, 102175218], [102176624, 102176697], [102181124, 102181222], [102183014, 102183095], [102187807, 102187979], [102189237, 102189346], [102195855, 102195885], [102196286, 102196462]]
NM_001329788 [[102153858, 102153998], [102155703, 102155817], [102157323, 102157437], [102171762, 102171983], [102175036, 102175218], [102176624, 102176697], [102181124, 102181222], [102183014, 102183095], [102187807, 102187979], [102189237, 102189346], [102195855, 102195885], [102196286, 102198685]] [[102157331, 102157437], [102171762, 102171983], [102175036, 102175218], [102176624, 102176697], [102181124, 102181222], [102183014, 102183095], [102187807, 102187979], [102189237, 102189346], [102195855, 102195885], [102196286, 102196462]]
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I102229 102229001 102229600 0.9 [{'connected_gene': 'NXPE3', 'score': 10.25}, {'connected_gene': 'GC03P102210', 'score': 0.34}, {'connected_gene': 'PIR36108', 'score': 0.34}, {'connected_gene': 'GC03P102209', 'score': 0.34}, {'connected_gene': 'ZPLD1', 'score': 0.12}, {'connected_gene': 'GC03M102416', 'score': 0.09}]
chr3 GH03I102223 102223193 102223600 0.62 [{'connected_gene': 'NFKBIZ', 'score': 22.55}, {'connected_gene': 'ENSG00000249474', 'score': 12.29}, {'connected_gene': 'RPL24', 'score': 10.2}, {'connected_gene': 'ZPLD1', 'score': 10.05}, {'connected_gene': 'GC03P102210', 'score': 0.37}, {'connected_gene': 'PIR36108', 'score': 0.37}, {'connected_gene': 'GC03P102209', 'score': 0.37}, {'connected_gene': 'GC03M102416', 'score': 0.08}]
chr3 GH03I102225 102225477 102225666 0.88 [{'connected_gene': 'NFKBIZ', 'score': 12.29}, {'connected_gene': 'ENSG00000249474', 'score': 12.29}, {'connected_gene': 'RPL24', 'score': 10.2}, {'connected_gene': 'ZPLD1', 'score': 10.05}, {'connected_gene': 'GC03P102210', 'score': 0.37}, {'connected_gene': 'PIR36108', 'score': 0.37}, {'connected_gene': 'GC03P102209', 'score': 0.37}, {'connected_gene': 'GC03M102416', 'score': 0.08}]
chr3 GH03I102018 102018716 102019057 0.24 [{'connected_gene': 'NFKBIZ', 'score': 17.1}, {'connected_gene': 'ZBTB11', 'score': 1.72}, {'connected_gene': 'ENSG00000241280', 'score': 0.22}, {'connected_gene': 'ZPLD1', 'score': 0.18}]
chr3 GH03I101900 101900455 101900571 0.45 [{'connected_gene': 'NFKBIZ', 'score': 19.33}, {'connected_gene': 'ZPLD1', 'score': 10.37}, {'connected_gene': 'NXPE3', 'score': 5.65}, {'connected_gene': 'GC03M101929', 'score': 0.29}, {'connected_gene': 'GC03P101864', 'score': 0.28}]
chr3 GH03I101901 101901589 101903924 1.53 [{'connected_gene': 'NFKBIZ', 'score': 24.45}, {'connected_gene': 'ZPLD1', 'score': 11.24}, {'connected_gene': 'NXPE3', 'score': 5.75}, {'connected_gene': 'GC03M101929', 'score': 0.31}, {'connected_gene': 'GC03P101864', 'score': 0.28}]
chr3 GH03I101988 101988706 101988902 0.36 [{'connected_gene': 'NFKBIZ', 'score': 26.27}, {'connected_gene': 'ZPLD1', 'score': 11.46}, {'connected_gene': 'ZBTB11', 'score': 1.41}, {'connected_gene': 'ENSG00000241280', 'score': 0.31}, {'connected_gene': 'LINC02085', 'score': 0.25}]
chr3 GH03I101964 101964000 101964400 0.85 [{'connected_gene': 'NFKBIZ', 'score': 29.05}, {'connected_gene': 'ZPLD1', 'score': 10.58}, {'connected_gene': 'ZBTB11', 'score': 1.74}, {'connected_gene': 'ENSG00000241280', 'score': 0.77}, {'connected_gene': 'LINC02085', 'score': 0.34}]
chr3 GH03I101987 101987997 101988146 0.99 [{'connected_gene': 'NFKBIZ', 'score': 12.88}, {'connected_gene': 'ZPLD1', 'score': 11.46}, {'connected_gene': 'ENSG00000241280', 'score': 0.31}, {'connected_gene': 'LINC02085', 'score': 0.25}]
chr3 GH03I101898 101898351 101900098 1.48 [{'connected_gene': 'NFKBIZ', 'score': 23.86}, {'connected_gene': 'ZPLD1', 'score': 10.37}, {'connected_gene': 'ZBTB11-AS1', 'score': 5.69}, {'connected_gene': 'NXPE3', 'score': 5.66}, {'connected_gene': 'ZBTB11', 'score': 1.34}, {'connected_gene': 'GC03M101929', 'score': 0.29}, {'connected_gene': 'GC03P101864', 'score': 0.28}]
chr3 GH03I101890 101890763 101891046 0.84 [{'connected_gene': 'NFKBIZ', 'score': 15.07}, {'connected_gene': 'ZPLD1', 'score': 10.95}, {'connected_gene': 'ZBTB11-AS1', 'score': 4.52}, {'connected_gene': 'ZBTB11', 'score': 1.36}, {'connected_gene': 'GC03P101864', 'score': 0.31}, {'connected_gene': 'GC03M101929', 'score': 0.26}]
chr3 GH03I101873 101873511 101874001 1.2 [{'connected_gene': 'NFKBIZ', 'score': 25.33}, {'connected_gene': 'ZPLD1', 'score': 10.11}, {'connected_gene': 'GC03P101864', 'score': 0.44}, {'connected_gene': 'GC03M101929', 'score': 0.22}]
chr3 GH03I102006 102006552 102007725 0.46 [{'connected_gene': 'NFKBIZ', 'score': 6.89}, {'connected_gene': 'ENSG00000241280', 'score': 0.25}, {'connected_gene': 'ZPLD1', 'score': 0.16}]
chr3 GH03I102019 102018102 102018226 0.33 [{'connected_gene': 'NFKBIZ', 'score': 6.42}, {'connected_gene': 'ENSG00000241280', 'score': 0.22}, {'connected_gene': 'ZPLD1', 'score': 0.18}]
chr3 GH03I102067 102067683 102070126 0.89 [{'connected_gene': 'SENP7', 'score': 14.95}, {'connected_gene': 'ZNF90P1', 'score': 12.72}, {'connected_gene': 'ZPLD1', 'score': 12.31}, {'connected_gene': 'ZBTB11-AS1', 'score': 9.73}, {'connected_gene': 'ENSG00000241280', 'score': 0.14}]
chr3 GH03I101867 101867538 101869489 1.28 [{'connected_gene': 'SENP7', 'score': 14.98}, {'connected_gene': 'ZBTB11-AS1', 'score': 13.36}, {'connected_gene': 'ZNF90P1', 'score': 12.72}, {'connected_gene': 'ZPLD1', 'score': 10.77}, {'connected_gene': 'GC03P101864', 'score': 0.77}, {'connected_gene': 'GC03M101929', 'score': 0.21}]
chr3 GH03I101935 101935143 101943250 1.71 [{'connected_gene': 'LINC02085', 'score': 550.77}, {'connected_gene': 'NFKBIZ', 'score': 33.06}, {'connected_gene': 'ZPLD1', 'score': 10.2}, {'connected_gene': 'NXPE3', 'score': 7.55}, {'connected_gene': 'SENP7', 'score': 5.95}, {'connected_gene': 'ZBTB11-AS1', 'score': 5.62}, {'connected_gene': 'ZBTB11', 'score': 1.51}, {'connected_gene': 'GC03M101929', 'score': 0.44}]
chr3 GH03I102026 102026778 102026851 0.23 [{'connected_gene': 'ZPLD1', 'score': 10.65}, {'connected_gene': 'NFKBIZ', 'score': 9.78}, {'connected_gene': 'ZBTB11', 'score': 1.54}, {'connected_gene': 'ENSG00000241280', 'score': 0.2}]
chr3 GH03I101995 101995337 101996406 0.38 [{'connected_gene': 'ZPLD1', 'score': 10.7}, {'connected_gene': 'NFKBIZ', 'score': 4.46}, {'connected_gene': 'ENSG00000241280', 'score': 0.28}, {'connected_gene': 'LINC02085', 'score': 0.22}]
chr3 GH03I101993 101993745 101995247 0.2 [{'connected_gene': 'ZPLD1', 'score': 10.7}, {'connected_gene': 'NFKBIZ', 'score': 4.3}, {'connected_gene': 'ENSG00000241280', 'score': 0.29}, {'connected_gene': 'LINC02085', 'score': 0.23}]
chr3 GH03I102188 102188583 102196714 1.33 [{'connected_gene': 'ZPLD1', 'score': 11.92}, {'connected_gene': 'NFKBIZ', 'score': 4.69}, {'connected_gene': 'GC03P102210', 'score': 0.37}, {'connected_gene': 'PIR36108', 'score': 0.37}, {'connected_gene': 'GC03P102209', 'score': 0.37}, {'connected_gene': 'LOC101929411', 'score': 0.31}]
chr3 GH03I102020 102020772 102021224 0.38 [{'connected_gene': 'ZPLD1', 'score': 11.29}, {'connected_gene': 'NFKBIZ', 'score': 10.76}, {'connected_gene': 'ENSG00000241280', 'score': 0.21}]
chr3 GH03I102038 102038070 102039451 0.79 [{'connected_gene': 'ZPLD1', 'score': 11.05}, {'connected_gene': 'NFKBIZ', 'score': 4.62}, {'connected_gene': 'ENSG00000241280', 'score': 0.18}]
chr3 GH03I102053 102053122 102053987 1.04 [{'connected_gene': 'ZPLD1', 'score': 11.6}, {'connected_gene': 'NFKBIZ', 'score': 11.49}, {'connected_gene': 'ENSG00000241280', 'score': 0.16}]
chr3 GH03I102155 102155704 102158960 1.06 [{'connected_gene': 'ZPLD1', 'score': 11.58}, {'connected_gene': 'IMPG2', 'score': 4.12}, {'connected_gene': 'LOC101929411', 'score': 0.44}, {'connected_gene': 'GC03M102109', 'score': 0.25}]
chr3 GH03I102122 102122985 102126007 1.12 [{'connected_gene': 'ZPLD1', 'score': 14.05}, {'connected_gene': 'GC03M102109', 'score': 0.39}, {'connected_gene': 'LOC101929411', 'score': 0.28}]
chr3 GH03I102140 102140973 102143481 0.31 [{'connected_gene': 'ZPLD1', 'score': 11.49}, {'connected_gene': 'LOC101929411', 'score': 0.34}, {'connected_gene': 'GC03M102109', 'score': 0.29}]
chr3 GH03I102112 102112157 102115238 1.06 [{'connected_gene': 'ZPLD1', 'score': 4.33}, {'connected_gene': 'GC03M102109', 'score': 0.77}, {'connected_gene': 'LOC101929411', 'score': 0.25}]
chr3 GH03I102129 102129624 102130951 0.92 [{'connected_gene': 'ZPLD1', 'score': 12.27}, {'connected_gene': 'GC03M102109', 'score': 0.37}, {'connected_gene': 'LOC101929411', 'score': 0.29}]
chr3 GH03I101875 101875383 101877499 0.56 [{'connected_gene': 'ZPLD1', 'score': 10.11}, {'connected_gene': 'ZBTB11-AS1', 'score': 5.86}, {'connected_gene': 'GC03P101864', 'score': 0.39}, {'connected_gene': 'GC03M101929', 'score': 0.23}]
chr3 GH03I101889 101889573 101890684 0.31 [{'connected_gene': 'ZPLD1', 'score': 10.95}, {'connected_gene': 'ZBTB11-AS1', 'score': 4.46}, {'connected_gene': 'GC03P101864', 'score': 0.31}, {'connected_gene': 'GC03M101929', 'score': 0.26}]
chr3 GH03I102353 102353511 102356079 0.59 [{'connected_gene': 'ZPLD1', 'score': 4.19}, {'connected_gene': 'GC03M102416', 'score': 0.21}, {'connected_gene': 'GC03P102210', 'score': 0.11}, {'connected_gene': 'PIR36108', 'score': 0.11}, {'connected_gene': 'GC03P102209', 'score': 0.11}]
chr3 GH03I102087 102087463 102087772 0.4 [{'connected_gene': 'ZPLD1', 'score': 0.39}, {'connected_gene': 'ENSG00000241280', 'score': 0.13}]
chr3 GH03I102088 102088168 102091521 1.54 [{'connected_gene': 'ZPLD1', 'score': 0.44}, {'connected_gene': 'ENSG00000241280', 'score': 0.13}]
chr3 GH03I102025 102025401 102026200 0.2 [{'connected_gene': 'ZPLD1', 'score': 11.3}, {'connected_gene': 'ENSG00000241280', 'score': 0.2}]
chr3 GH03I102060 102060917 102061066 0.95 [{'connected_gene': 'ZPLD1', 'score': 11.78}, {'connected_gene': 'ENSG00000241280', 'score': 0.15}]
chr3 GH03I102083 102083080 102086895 0.9 [{'connected_gene': 'ZPLD1', 'score': 0.39}, {'connected_gene': 'ENSG00000241280', 'score': 0.13}]
chr3 GH03I102057 102057550 102060105 0.72 [{'connected_gene': 'ZPLD1', 'score': 11.77}, {'connected_gene': 'ENSG00000241280', 'score': 0.15}]
chr3 GH03I102092 102092264 102094799 0.88 [{'connected_gene': 'ZPLD1', 'score': 0.44}, {'connected_gene': 'ENSG00000241280', 'score': 0.12}]
chr3 GH03I102077 102077385 102080624 0.83 [{'connected_gene': 'ZPLD1', 'score': 12.25}, {'connected_gene': 'ENSG00000241280', 'score': 0.13}]
chr3 GH03I102161 102161790 102164444 1.31 [{'connected_gene': 'LOC101929411', 'score': 550.77}, {'connected_gene': 'ZPLD1', 'score': 11.41}, {'connected_gene': 'SENP7', 'score': 10.69}, {'connected_gene': 'ZNF90P1', 'score': 9.82}, {'connected_gene': 'GC03M102109', 'score': 0.23}]
chr3 GH03I102173 102173689 102176065 0.91 [{'connected_gene': 'LOC101929411', 'score': 0.39}, {'connected_gene': 'GC03P102210', 'score': 0.29}, {'connected_gene': 'PIR36108', 'score': 0.29}, {'connected_gene': 'GC03P102209', 'score': 0.29}, {'connected_gene': 'ZPLD1', 'score': 0.18}]
chr3 GH03I102178 102178100 102183728 1.54 [{'connected_gene': 'LOC101929411', 'score': 0.37}, {'connected_gene': 'GC03P102210', 'score': 0.31}, {'connected_gene': 'PIR36108', 'score': 0.31}, {'connected_gene': 'GC03P102209', 'score': 0.31}, {'connected_gene': 'ZPLD1', 'score': 0.18}]
chr3 GH03I102176 102176601 102176800 0.63 [{'connected_gene': 'LOC101929411', 'score': 0.39}, {'connected_gene': 'GC03P102210', 'score': 0.29}, {'connected_gene': 'PIR36108', 'score': 0.29}, {'connected_gene': 'GC03P102209', 'score': 0.29}, {'connected_gene': 'ZPLD1', 'score': 0.18}]
chr3 GH03I102165 102165295 102165777 0.4 [{'connected_gene': 'LOC101929411', 'score': 550.77}, {'connected_gene': 'GC03P102210', 'score': 0.26}, {'connected_gene': 'PIR36108', 'score': 0.26}, {'connected_gene': 'GC03P102209', 'score': 0.26}, {'connected_gene': 'ZPLD1', 'score': 0.2}]
chr3 GH03I101928 101928583 101930154 0.77 [{'connected_gene': 'GC03M101929', 'score': 550.77}, {'connected_gene': 'ZPLD1', 'score': 11.07}, {'connected_gene': 'PDCL3P4', 'score': 4.58}, {'connected_gene': 'GC03P101864', 'score': 0.2}]
chr3 GH03I102378 102378357 102378506 0.2 [{'connected_gene': 'GC03M102416', 'score': 0.28}, {'connected_gene': 'GC03P102210', 'score': 0.09}, {'connected_gene': 'PIR36108', 'score': 0.09}, {'connected_gene': 'GC03P102209', 'score': 0.09}, {'connected_gene': 'ZPLD1', 'score': 0.06}]
chr3 GH03I102106 102106537 102106857 0.33 [{'connected_gene': 'GC03M102109', 'score': 0.77}, {'connected_gene': 'ZPLD1', 'score': 0.44}]
chr3 GH03I102400 102400047 102401895 0.43 [{'connected_gene': 'GC03M102416', 'score': 0.37}, {'connected_gene': 'GC03P102210', 'score': 0.08}, {'connected_gene': 'PIR36108', 'score': 0.08}, {'connected_gene': 'GC03P102209', 'score': 0.08}, {'connected_gene': 'ZPLD1', 'score': 0.06}]
chr3 GH03I101999 101999537 101999686 0.46 [{'connected_gene': 'ENSG00000241280', 'score': 0.28}, {'connected_gene': 'ZPLD1', 'score': 0.15}]
chr3 GH03I102209 102209667 102211327 0.2 [{'connected_gene': 'GC03P102210', 'score': 0.77}, {'connected_gene': 'PIR36108', 'score': 0.77}, {'connected_gene': 'GC03P102209', 'score': 0.77}, {'connected_gene': 'ZPLD1', 'score': 0.14}, {'connected_gene': 'GC03M102416', 'score': 0.08}]
chr3 GH03I102415 102415402 102415999 0.2 [{'connected_gene': 'GC03M102416', 'score': 550.77}, {'connected_gene': 'GC03P102210', 'score': 0.08}, {'connected_gene': 'PIR36108', 'score': 0.08}, {'connected_gene': 'GC03P102209', 'score': 0.08}, {'connected_gene': 'ZPLD1', 'score': 0.06}]
chr3 GH03I102238 102238577 102238786 0.52 [{'connected_gene': 'GC03P102210', 'score': 0.29}, {'connected_gene': 'PIR36108', 'score': 0.29}, {'connected_gene': 'GC03P102209', 'score': 0.29}, {'connected_gene': 'ZPLD1', 'score': 0.12}, {'connected_gene': 'GC03M102416', 'score': 0.1}]
chr3 GH03I102298 102298792 102300382 0.43 [{'connected_gene': 'GC03P102210', 'score': 0.16}, {'connected_gene': 'PIR36108', 'score': 0.16}, {'connected_gene': 'GC03P102209', 'score': 0.16}, {'connected_gene': 'GC03M102416', 'score': 0.13}, {'connected_gene': 'ZPLD1', 'score': 0.08}]
chr3 GH03I102206 102206400 102207001 0.71 [{'connected_gene': 'GC03P102210', 'score': 550.77}, {'connected_gene': 'PIR36108', 'score': 550.77}, {'connected_gene': 'GC03P102209', 'score': 550.77}, {'connected_gene': 'LOC101929411', 'score': 0.26}, {'connected_gene': 'ZPLD1', 'score': 0.14}]

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