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
ENST00000529689 [[82970138, 82973008], [82976906, 82977021], [82984689, 82984743], [82984835, 82984907], [82984993, 82985035], [82985681, 82985783], [82989768, 82989872], [82991183, 82991303], [82996915, 82997450]] [[82972952, 82973008], [82976906, 82977021], [82984689, 82984743], [82984835, 82984907], [82984993, 82985035], [82985681, 82985783], [82989768, 82989872], [82991183, 82991303], [82996915, 82997015]]
ENST00000455220 [[82972358, 82973008], [82976906, 82977021], [82984689, 82984743], [82984835, 82984907], [82984993, 82985035], [82985681, 82985783], [82989768, 82989872], [82991183, 82991303], [82997142, 82997433]] [[82972952, 82973008], [82976906, 82977021], [82984689, 82984743], [82984835, 82984907], [82984993, 82985035], [82985681, 82985783], [82989768, 82989872], [82991183, 82991303], [82997142, 82997215]]
ENST00000525504 [[82972497, 82973008], [82976906, 82977021], [82977908, 82978514]] None
ENST00000525503 [[82972497, 82973008], [82976906, 82977021], [82984689, 82984743], [82984835, 82984907], [82984993, 82985035], [82985681, 82985783], [82989768, 82989872], [82991183, 82991303], [82996595, 82997394]] [[82972952, 82973008], [82976906, 82977021], [82984689, 82984743], [82984835, 82984907], [82984993, 82985035], [82985681, 82985783], [82989768, 82989789]]
ENST00000260054 [[82972497, 82973008], [82976906, 82977021], [82984689, 82984743], [82984835, 82985035], [82985681, 82985783], [82989768, 82989872], [82991183, 82991303], [82996915, 82997397]] [[82984972, 82985035], [82985681, 82985783], [82989768, 82989872], [82991183, 82991303], [82996915, 82997015]]
ENST00000529611 [[82972503, 82973008], [82976906, 82977021], [82984689, 82984743], [82984835, 82984907], [82984993, 82985035], [82985681, 82985783], [82989768, 82989872], [82991183, 82991303], [82996169, 82997041]] [[82972952, 82973008], [82976906, 82977021], [82984689, 82984743], [82984835, 82984907], [82984993, 82985035], [82985681, 82985783], [82989768, 82989789]]
ENST00000527495 [[82972771, 82973008], [82984689, 82984743], [82984835, 82984907], [82984993, 82985035], [82985681, 82985783], [82989768, 82989873]] [[82972981, 82973008], [82984689, 82984743], [82984835, 82984907], [82984993, 82985035], [82985681, 82985783], [82989768, 82989873]]
ENST00000529745 [[82972798, 82973008], [82976906, 82977021], [82984689, 82984743], [82984835, 82984907], [82984993, 82985035], [82985681, 82985783], [82991183, 82991303], [82996915, 82997253]] [[82985709, 82985783], [82991183, 82991303], [82996915, 82997015]]
ENST00000533761 [[82972836, 82973008], [82976906, 82977021], [82977908, 82978080], [82984689, 82984743], [82984835, 82984907], [82984993, 82985783], [82991183, 82991303], [82996915, 82997007]] [[82985709, 82985783], [82991183, 82991303], [82996915, 82997007]]
ENST00000529856 [[82972837, 82973008], [82976906, 82977021], [82984689, 82984743], [82984835, 82984907], [82984993, 82985035], [82985681, 82985783], [82996915, 82997398]] [[82985709, 82985783], [82996915, 82997015]]
ENST00000529312 [[82972932, 82973008], [82976906, 82977021], [82984689, 82984743], [82984835, 82984907], [82984993, 82985035], [82985681, 82985783], [82991183, 82991303], [82996169, 82996254], [82996915, 82997022]] [[82996237, 82996254], [82996915, 82997015]]
ENST00000529073 [[82972970, 82973008], [82976906, 82977021], [82984689, 82984781], [82984993, 82985035], [82985681, 82985783], [82989768, 82989872], [82991183, 82991303], [82996915, 82997021]] [[82976954, 82977021], [82984689, 82984781], [82984993, 82985035], [82985681, 82985783], [82989768, 82989872], [82991183, 82991303], [82996915, 82997015]]
ENST00000534753 [[82976931, 82977021], [82984689, 82984743], [82984835, 82984907], [82984993, 82985035], [82985681, 82985806], [82989768, 82989872], [82991183, 82991303], [82996915, 82997031]] [[82985776, 82985806], [82989768, 82989872], [82991183, 82991303], [82996915, 82997015]]
ENST00000527025 [[82976941, 82977021], [82984689, 82984743], [82984835, 82984907], [82984993, 82985035], [82985681, 82985783], [82989768, 82989872], [82991183, 82991303], [82996169, 82996254], [82996915, 82997033]] [[82996237, 82996254], [82996915, 82997015]]
ENST00000528149 [[82976957, 82977021], [82984689, 82984743], [82984835, 82984907], [82984993, 82985035], [82985681, 82985783], [82991183, 82991303], [82996595, 82997128]] [[82996883, 82997015]]
ENST00000526265 [[82984288, 82984743], [82984835, 82984907], [82984993, 82985783], [82996915, 82997031]] [[82985709, 82985783], [82996915, 82997015]]
ENST00000525916 [[82984719, 82984743], [82984835, 82984907], [82984993, 82985035], [82985681, 82985783], [82996595, 82997011]] None
ENST00000530253 [[82985219, 82985783], [82991183, 82991303], [82996915, 82997007]] None
ENST00000526631 [[82985485, 82985783], [82989768, 82989872], [82991183, 82991303], [82996915, 82997021]] None
NM_001286117 [[82970134, 82973008], [82976906, 82977021], [82984689, 82984743], [82984835, 82984907], [82984993, 82985035], [82985681, 82985783], [82989768, 82989872], [82991183, 82991303], [82996595, 82997450]] [[82972952, 82973008], [82976906, 82977021], [82984689, 82984743], [82984835, 82984907], [82984993, 82985035], [82985681, 82985783], [82989768, 82989789]]
NM_001286119 [[82970134, 82973008], [82976906, 82977021], [82984689, 82984743], [82984835, 82984907], [82984993, 82985035], [82985681, 82985783], [82991183, 82991303], [82996169, 82996254], [82996915, 82997450]] [[82972952, 82973008], [82976906, 82977021], [82984689, 82984743], [82984835, 82984907], [82984993, 82985035], [82985681, 82985783], [82991183, 82991213]]
NM_021825 [[82970134, 82973008], [82976906, 82977021], [82984689, 82984743], [82984835, 82984907], [82984993, 82985035], [82985681, 82985783], [82989768, 82989872], [82991183, 82991303], [82996915, 82997450]] [[82972952, 82973008], [82976906, 82977021], [82984689, 82984743], [82984835, 82984907], [82984993, 82985035], [82985681, 82985783], [82989768, 82989872], [82991183, 82991303], [82996915, 82997015]]
NM_001286118 [[82970134, 82973008], [82976906, 82977021], [82984689, 82984743], [82984835, 82984907], [82984993, 82985035], [82985681, 82985783], [82991183, 82991303], [82996915, 82997450]] [[82972952, 82973008], [82976906, 82977021], [82984689, 82984743], [82984835, 82984907], [82984993, 82985035], [82985681, 82985783], [82991183, 82991213]]
NM_001286120 [[82970134, 82973008], [82976906, 82977021], [82984689, 82984743], [82984835, 82984907], [82984993, 82985035], [82985681, 82985783], [82996915, 82997450]] [[82972952, 82973008], [82976906, 82977021], [82984689, 82984743], [82984835, 82984907], [82984993, 82985035], [82985681, 82985762]]
NM_001286116 [[82970134, 82973008], [82976906, 82977021], [82984689, 82984743], [82984835, 82984907], [82984993, 82985035], [82985681, 82985783], [82989768, 82989872], [82991183, 82991303], [82997142, 82997450]] [[82972952, 82973008], [82976906, 82977021], [82984689, 82984743], [82984835, 82984907], [82984993, 82985035], [82985681, 82985783], [82989768, 82989872], [82991183, 82991303], [82997142, 82997215]]
Promoter
Chrom Start End Description
chr11 82996708 82996719 CAGE_peak_7_at_CCDC90B_5end
chr11 82996979 82996994 CAGE_peak_4_at_CCDC90B_5end
chr11 82996996 82997007 CAGE_peak_5_at_CCDC90B_5end
chr11 82997013 82997039 CAGE_peak_1_at_CCDC90B_5end
chr11 82997046 82997059 CAGE_peak_3_at_CCDC90B_5end
chr11 82997371 82997416 CAGE_peak_2_at_CCDC90B_5end
chr11 82997420 82997437 CAGE_peak_6_at_CCDC90B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I083284 83284038 83287455 2.1 [{'connected_gene': 'CCDC90B', 'score': 600.16}, {'connected_gene': 'ENSG00000255234', 'score': 562.46}, {'connected_gene': 'PCF11', 'score': 18.04}, {'connected_gene': 'ENSG00000254676', 'score': 11.79}, {'connected_gene': 'GC11M083251', 'score': 0.29}]
chr11 GH11I083318 83318306 83319586 0.2 [{'connected_gene': 'CCDC90B', 'score': 48.96}, {'connected_gene': 'CYCSP28', 'score': 0.44}, {'connected_gene': 'LOC105369420', 'score': 0.39}, {'connected_gene': 'ENSG00000255234', 'score': 0.29}]
chr11 GH11I083472 83472332 83474311 0.49 [{'connected_gene': 'CCDC90B', 'score': 9.87}, {'connected_gene': 'ANKRD42', 'score': 4.42}, {'connected_gene': 'GC11M083456', 'score': 0.37}, {'connected_gene': 'GC11M083502', 'score': 0.31}, {'connected_gene': 'GC11M083369', 'score': 0.16}]
chr11 GH11I083256 83256351 83258967 0.81 [{'connected_gene': 'CCDC90B', 'score': 60.92}, {'connected_gene': 'ENSG00000255234', 'score': 23.81}, {'connected_gene': 'RAB30', 'score': 9.49}, {'connected_gene': 'RAB30-AS1', 'score': 9.49}, {'connected_gene': 'GC11M083251', 'score': 0.77}, {'connected_gene': 'ANKRD42', 'score': 0.21}]
chr11 GH11I083543 83543354 83545308 0.59 [{'connected_gene': 'CCDC90B', 'score': 8.03}, {'connected_gene': 'ENSG00000255234', 'score': 6.62}, {'connected_gene': 'RAB30-AS1', 'score': 4.09}, {'connected_gene': 'GC11M083369', 'score': 0.34}, {'connected_gene': 'GC11M083502', 'score': 0.26}]
chr11 GH11I083272 83272259 83273692 0.38 [{'connected_gene': 'CCDC90B', 'score': 49.78}, {'connected_gene': 'ENSG00000255234', 'score': 11.44}, {'connected_gene': 'GC11M083251', 'score': 0.37}]
chr11 GH11I083409 83409515 83412063 0.31 [{'connected_gene': 'CCDC90B', 'score': 16.11}, {'connected_gene': 'ENSG00000255234', 'score': 13.82}, {'connected_gene': 'ENSG00000274004', 'score': 0.34}, {'connected_gene': 'PIR41424', 'score': 0.29}, {'connected_gene': 'GC11M083369', 'score': 0.1}]
chr11 GH11I083539 83539981 83541769 0.2 [{'connected_gene': 'CCDC90B', 'score': 8.07}, {'connected_gene': 'GC11M083369', 'score': 0.34}, {'connected_gene': 'GC11M083502', 'score': 0.28}]
chr11 GH11I083282 83282401 83282800 0.38 [{'connected_gene': 'CCDC90B', 'score': 50.15}, {'connected_gene': 'ENSG00000255234', 'score': 0.77}, {'connected_gene': 'GC11M083251', 'score': 0.31}]
chr11 GH11I083492 83492335 83492754 0.24 [{'connected_gene': 'CCDC90B', 'score': 7.09}, {'connected_gene': 'GC11M083502', 'score': 0.39}, {'connected_gene': 'GC11M083456', 'score': 0.28}, {'connected_gene': 'GC11M083369', 'score': 0.19}]
chr11 GH11I083553 83553543 83553917 0.24 [{'connected_gene': 'CCDC90B', 'score': 7.8}, {'connected_gene': 'GC11M083369', 'score': 0.39}, {'connected_gene': 'GC11M083502', 'score': 0.23}]
chr11 GH11I083508 83508530 83509615 0.75 [{'connected_gene': 'CCDC90B', 'score': 12.38}, {'connected_gene': 'ENSG00000255234', 'score': 10.88}, {'connected_gene': 'GC11M083502', 'score': 0.44}, {'connected_gene': 'GC11M083369', 'score': 0.22}]
chr11 GH11I083176 83176954 83178039 0.43 [{'connected_gene': 'PCF11', 'score': 11.29}, {'connected_gene': 'RAB30-AS1', 'score': 10.7}, {'connected_gene': 'RAB30', 'score': 10.7}, {'connected_gene': 'PRCP', 'score': 10.69}, {'connected_gene': 'DDIAS', 'score': 10.67}, {'connected_gene': 'CCDC90B', 'score': 10.64}, {'connected_gene': 'ENSG00000255234', 'score': 10.64}, {'connected_gene': 'ENSG00000254698', 'score': 9.42}, {'connected_gene': 'SNORA70E', 'score': 9.42}, {'connected_gene': 'ENSG00000254522', 'score': 9.42}, {'connected_gene': 'ENSG00000254676', 'score': 0.77}, {'connected_gene': 'GC11P083158', 'score': 0.37}]
chr11 GH11I082867 82867119 82868000 1.08 [{'connected_gene': 'DDIAS', 'score': 18.91}, {'connected_gene': 'PRCP', 'score': 18.9}, {'connected_gene': 'FAM181B', 'score': 11.23}, {'connected_gene': 'ENSG00000255234', 'score': 10.27}, {'connected_gene': 'CCDC90B', 'score': 10.27}, {'connected_gene': 'RAB30', 'score': 9.97}, {'connected_gene': 'ENSG00000254441', 'score': 0.29}]
chr11 GH11I083185 83185544 83189563 0.49 [{'connected_gene': 'PCF11-AS1', 'score': 550.77}, {'connected_gene': 'PCF11', 'score': 11.79}, {'connected_gene': 'RAB30-AS1', 'score': 10.71}, {'connected_gene': 'RAB30', 'score': 10.71}, {'connected_gene': 'CCDC90B', 'score': 10.48}, {'connected_gene': 'ENSG00000255234', 'score': 10.48}, {'connected_gene': 'LOC100506282', 'score': 0.44}, {'connected_gene': 'ANKRD42', 'score': 0.44}]
chr11 GH11I083206 83206977 83207342 0.45 [{'connected_gene': 'ENSG00000255234', 'score': 10.83}, {'connected_gene': 'CCDC90B', 'score': 10.83}, {'connected_gene': 'RAB30', 'score': 10.11}, {'connected_gene': 'RAB30-AS1', 'score': 10.11}, {'connected_gene': 'PCF11', 'score': 9.14}, {'connected_gene': 'ANKRD42', 'score': 2.33}, {'connected_gene': 'CKS1BP4', 'score': 0.77}, {'connected_gene': 'LOC100506282', 'score': 0.39}]
chr11 GH11I083260 83260299 83260448 0.2 [{'connected_gene': 'ENSG00000255234', 'score': 11.71}, {'connected_gene': 'CCDC90B', 'score': 11.71}, {'connected_gene': 'RAB30', 'score': 9.7}, {'connected_gene': 'RAB30-AS1', 'score': 9.7}, {'connected_gene': 'GC11M083251', 'score': 0.44}, {'connected_gene': 'ANKRD42', 'score': 0.2}]
chr11 GH11I083583 83583208 83584615 0.6 [{'connected_gene': 'ENSG00000255234', 'score': 9.14}, {'connected_gene': 'CCDC90B', 'score': 7.39}, {'connected_gene': 'GC11M083369', 'score': 0.37}, {'connected_gene': 'LOC101929043', 'score': 0.23}]
chr11 GH11I083292 83292801 83293399 0.83 [{'connected_gene': 'ENSG00000255234', 'score': 11.28}, {'connected_gene': 'PIR39861', 'score': 0.44}, {'connected_gene': 'CCDC90B', 'score': 0.44}]
chr11 GH11I083179 83179889 83183584 0.31 [{'connected_gene': 'ENSG00000254676', 'score': 550.77}, {'connected_gene': 'PCF11', 'score': 11.84}, {'connected_gene': 'RAB30-AS1', 'score': 10.72}, {'connected_gene': 'RAB30', 'score': 10.72}, {'connected_gene': 'PRCP', 'score': 10.68}, {'connected_gene': 'DDIAS', 'score': 10.67}, {'connected_gene': 'CCDC90B', 'score': 10.64}, {'connected_gene': 'ENSG00000255234', 'score': 10.64}, {'connected_gene': 'PCF11-AS1', 'score': 0.44}]

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