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
ENST00000395035 [[39405687, 39405900], [39406327, 39406462], [39411731, 39411788], [39414767, 39414850], [39417445, 39417643], [39431667, 39431758], [39440540, 39440613], [39452979, 39453101], [39456505, 39456673]] [[39405687, 39405900], [39406327, 39406462], [39411731, 39411788], [39414767, 39414850], [39417445, 39417643], [39431667, 39431758], [39440540, 39440613], [39452979, 39453101], [39456505, 39456673]]
ENST00000378803 [[39405687, 39406462], [39411731, 39411788], [39414767, 39414850], [39417445, 39417643], [39431667, 39431758], [39440540, 39440613], [39452979, 39453101], [39456505, 39456673]] [[39406306, 39406462], [39411731, 39411788], [39414767, 39414850], [39417445, 39417643], [39431667, 39431758], [39440540, 39440613], [39452979, 39453101], [39456505, 39456673]]
ENST00000419111 [[39431667, 39431758], [39440540, 39440613], [39456505, 39456729]] [[39440604, 39440613], [39456505, 39456673]]
ENST00000451199 [[39402786, 39403237], [39406327, 39406462], [39411731, 39411788], [39414767, 39414848]] [[39403135, 39403237], [39406327, 39406462], [39411731, 39411788], [39414767, 39414848]]
NR_144521 [[39395185, 39395848], [39406327, 39406462], [39411731, 39411788], [39414767, 39414850], [39417445, 39417643], [39424092, 39424201], [39431667, 39431758], [39440540, 39440613], [39452979, 39453101], [39456505, 39456729], [39471011, 39471124]] None
NR_144520 [[39405687, 39406462], [39411731, 39411788], [39414767, 39414850], [39417445, 39417643], [39424092, 39424201], [39431667, 39431758], [39440540, 39440613], [39452979, 39453101], [39456505, 39456729]] None
NM_001009565 [[39405687, 39406462], [39411731, 39411788], [39414767, 39414850], [39417445, 39417643], [39431667, 39431758], [39440540, 39440613], [39452979, 39453101], [39456505, 39456729]] [[39406306, 39406462], [39411731, 39411788], [39414767, 39414850], [39417445, 39417643], [39431667, 39431758], [39440540, 39440613], [39452979, 39453101], [39456505, 39456673]]
NM_001346911 [[39405687, 39405900], [39406327, 39406462], [39411731, 39411788], [39414767, 39414850], [39417445, 39417643], [39431667, 39431758], [39440540, 39440613], [39452979, 39453101], [39456505, 39456729]] [[39405687, 39405900], [39406327, 39406462], [39411731, 39411788], [39414767, 39414850], [39417445, 39417643], [39431667, 39431758], [39440540, 39440613], [39452979, 39453101], [39456505, 39456673]]
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I039229 39229440 39230349 1.11 [{'connected_gene': 'THUMPD2', 'score': 20.88}, {'connected_gene': 'MAP4K3', 'score': 15.64}, {'connected_gene': 'SOS1', 'score': 14.13}, {'connected_gene': 'HNRNPLL', 'score': 10.99}, {'connected_gene': 'CDKL4', 'score': 0.37}, {'connected_gene': 'GC02M039185', 'score': 0.26}]
chr2 GH02I039264 39264550 39266700 0.68 [{'connected_gene': 'LOC728730', 'score': 9.31}, {'connected_gene': 'ENSG00000252473', 'score': 0.37}, {'connected_gene': 'CDKL4', 'score': 0.37}, {'connected_gene': 'MAP4K3', 'score': 0.09}]
chr2 GH02I039215 39215850 39218688 1.32 [{'connected_gene': 'SOS1', 'score': 44.03}, {'connected_gene': 'SRSF7', 'score': 15.29}, {'connected_gene': 'THUMPD2', 'score': 13.81}, {'connected_gene': 'ARHGEF33', 'score': 13.67}, {'connected_gene': 'ENSG00000202309', 'score': 12.02}, {'connected_gene': 'ENSG00000252473', 'score': 10.57}, {'connected_gene': 'DHX57', 'score': 9.72}, {'connected_gene': 'MORN2', 'score': 9.72}, {'connected_gene': 'CDKL4', 'score': 0.31}, {'connected_gene': 'GC02M039185', 'score': 0.29}]
chr2 GH02I039163 39163676 39163940 0.22 [{'connected_gene': 'SOS1', 'score': 11.49}, {'connected_gene': 'CDKL4', 'score': 2.36}, {'connected_gene': 'GC02M039185', 'score': 0.34}, {'connected_gene': 'GC02M039129', 'score': 0.29}, {'connected_gene': 'ENSG00000202309', 'score': 0.29}]
chr2 GH02I039114 39114920 39116905 0.56 [{'connected_gene': 'CDKL4', 'score': 11.26}, {'connected_gene': 'DHX57', 'score': 4.83}, {'connected_gene': 'GC02P039110', 'score': 0.44}, {'connected_gene': 'SOS1', 'score': 0.44}]
chr2 GH02I039573 39573363 39573689 0.23 [{'connected_gene': 'CDKL4', 'score': 1.34}, {'connected_gene': 'PIR40288', 'score': 0.39}, {'connected_gene': 'MAP4K3', 'score': 0.12}, {'connected_gene': 'LOC728730', 'score': 0.12}]
chr2 GH02I039113 39113610 39114261 0.31 [{'connected_gene': 'CDKL4', 'score': 11.26}, {'connected_gene': 'GC02P039110', 'score': 0.77}, {'connected_gene': 'SOS1', 'score': 0.39}]
chr2 GH02I039244 39244801 39245800 0.63 [{'connected_gene': 'CDKL4', 'score': 550.77}, {'connected_gene': 'GC02M039185', 'score': 0.22}]
chr2 GH02I039227 39227644 39229200 1.08 [{'connected_gene': 'CDKL4', 'score': 0.37}, {'connected_gene': 'GC02M039185', 'score': 0.26}]
chr2 GH02I039243 39243602 39244200 0.31 [{'connected_gene': 'CDKL4', 'score': 0.77}, {'connected_gene': 'GC02M039185', 'score': 0.22}]
chr2 GH02I038664 38664964 38668500 2.54 [{'connected_gene': 'GALM', 'score': 566.79}, {'connected_gene': 'SRSF7', 'score': 19.36}, {'connected_gene': 'ENSG00000273035', 'score': 15.46}, {'connected_gene': 'MAP4K3', 'score': 12.56}, {'connected_gene': 'CDKL4', 'score': 10.1}, {'connected_gene': 'HNRNPLL', 'score': 3.5}, {'connected_gene': 'ATL2', 'score': 1.89}, {'connected_gene': 'ENSG00000232518', 'score': 0.77}]
chr2 GH02I039179 39179275 39181549 0.78 [{'connected_gene': 'ENSG00000273035', 'score': 4.76}, {'connected_gene': 'GC02M039185', 'score': 0.44}, {'connected_gene': 'GC02M039129', 'score': 0.23}, {'connected_gene': 'ENSG00000202309', 'score': 0.23}, {'connected_gene': 'CDKL4', 'score': 0.2}]
chr2 GH02I039202 39202780 39202949 0.38 [{'connected_gene': 'GC02M039185', 'score': 0.37}, {'connected_gene': 'CDKL4', 'score': 0.26}]

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