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
ENST00000256460 [[9799025, 9799305], [9799412, 9799530], [9801171, 9801259], [9801355, 9801434], [9802339, 9802452], [9803144, 9803220], [9803314, 9803441], [9804597, 9804736], [9804822, 9804897], [9807442, 9807574], [9809350, 9809465], [9811515, 9811661]] [[9799222, 9799305], [9799412, 9799530], [9801171, 9801259], [9801355, 9801434], [9802339, 9802452], [9803144, 9803220], [9803314, 9803441], [9804597, 9804736], [9804822, 9804897], [9807442, 9807574], [9809350, 9809433]]
ENST00000496534 [[9799030, 9799530], [9801171, 9801259], [9801355, 9802254]] None
ENST00000421120 [[9799031, 9799530], [9801171, 9801259], [9801355, 9801434], [9802339, 9802452], [9803144, 9803220], [9803314, 9803409]] [[9799200, 9799530], [9801171, 9801259], [9801355, 9801434], [9802339, 9802452], [9803144, 9803220], [9803314, 9803409]]
ENST00000482803 [[9799037, 9799305], [9799412, 9799731]] None
ENST00000397277 [[9799075, 9799305], [9799412, 9799530], [9801355, 9801434], [9802339, 9802452], [9803144, 9803220], [9803314, 9803441], [9804597, 9804736], [9804822, 9804897], [9807442, 9807574], [9807808, 9807897], [9809350, 9809465], [9811515, 9811645]] [[9807860, 9807897], [9809350, 9809433]]
ENST00000411972 [[9803371, 9803441], [9804597, 9804736], [9804822, 9804897], [9809350, 9809465], [9811515, 9811676]] [[9803371, 9803441], [9804597, 9804736], [9804822, 9804897], [9809350, 9809433]]
NM_003656 [[9799028, 9799305], [9799412, 9799530], [9801171, 9801259], [9801355, 9801434], [9802339, 9802452], [9803144, 9803220], [9803314, 9803441], [9804597, 9804736], [9804822, 9804897], [9807442, 9807574], [9809350, 9809465], [9811515, 9811668]] [[9799222, 9799305], [9799412, 9799530], [9801171, 9801259], [9801355, 9801434], [9802339, 9802452], [9803144, 9803220], [9803314, 9803441], [9804597, 9804736], [9804822, 9804897], [9807442, 9807574], [9809350, 9809433]]
Promoter
Chrom Start End Description
chr3 9811595 9811666 CAGE_peak_1_at_CAMK1_5end
chr3 9811674 9811686 CAGE_peak_2_at_CAMK1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I009768 9768194 9771286 1.94 [{'connected_gene': 'CAMK1', 'score': 550.77}, {'connected_gene': 'BRK1', 'score': 12.82}, {'connected_gene': 'PRRT3', 'score': 11.21}, {'connected_gene': 'TTLL3', 'score': 9.62}, {'connected_gene': 'RPUSD3', 'score': 6.55}, {'connected_gene': 'OGG1', 'score': 0.37}]
chr3 GH03I009861 9861190 9866062 1.62 [{'connected_gene': 'IL17RC', 'score': 37.28}, {'connected_gene': 'JAGN1', 'score': 33.62}, {'connected_gene': 'CIDEC', 'score': 25.99}, {'connected_gene': 'TADA3', 'score': 14.1}, {'connected_gene': 'IL17RE', 'score': 13.67}, {'connected_gene': 'FANCD2', 'score': 13.55}, {'connected_gene': 'ARPC4', 'score': 12.18}, {'connected_gene': 'RNU6-882P', 'score': 11.98}, {'connected_gene': 'THUMPD3', 'score': 11.85}, {'connected_gene': 'TTLL3', 'score': 11.12}, {'connected_gene': 'BRPF1', 'score': 11.06}, {'connected_gene': 'ARPC4-TTLL3', 'score': 10.72}, {'connected_gene': 'CAMK1', 'score': 10.51}, {'connected_gene': 'CPNE9', 'score': 10.32}, {'connected_gene': 'FANCD2OS', 'score': 10.28}, {'connected_gene': 'CRELD1', 'score': 6.65}, {'connected_gene': 'RPUSD3', 'score': 1.77}, {'connected_gene': 'OGG1', 'score': 1.31}, {'connected_gene': 'MARK2P1', 'score': 0.44}, {'connected_gene': 'GC03M009835', 'score': 0.23}]
chr3 GH03I009751 9751814 9751854 0.46 [{'connected_gene': 'OGG1', 'score': 550.77}, {'connected_gene': 'CAMK1', 'score': 0.37}]
chr3 GH03I009752 9752047 9752587 0.52 [{'connected_gene': 'OGG1', 'score': 0.77}, {'connected_gene': 'CAMK1', 'score': 0.37}]
chr3 GH03I009787 9787354 9788129 0.6 [{'connected_gene': 'TTLL3', 'score': 10.14}, {'connected_gene': 'ARPC4', 'score': 0.77}, {'connected_gene': 'TADA3', 'score': 0.44}, {'connected_gene': 'CAMK1', 'score': 0.37}, {'connected_gene': 'OGG1', 'score': 0.28}]
chr3 GH03I010188 10188774 10200915 1.86 [{'connected_gene': 'BRPF1', 'score': 82.83}, {'connected_gene': 'SETD5', 'score': 73.25}, {'connected_gene': 'IRAK2', 'score': 60.93}, {'connected_gene': 'GHRLOS', 'score': 48.14}, {'connected_gene': 'LINC00852', 'score': 30.38}, {'connected_gene': 'TATDN2', 'score': 26.94}, {'connected_gene': 'FANCD2', 'score': 22.57}, {'connected_gene': 'GHRL', 'score': 19.15}, {'connected_gene': 'TTLL3', 'score': 18.85}, {'connected_gene': 'SEC13', 'score': 18.54}, {'connected_gene': 'VHL', 'score': 18.5}, {'connected_gene': 'JAGN1', 'score': 13.72}, {'connected_gene': 'EMC3-AS1', 'score': 12.84}, {'connected_gene': 'CYCSP10', 'score': 12.78}, {'connected_gene': 'ENSG00000206567', 'score': 11.58}, {'connected_gene': 'THUMPD3', 'score': 11.34}, {'connected_gene': 'FANCD2OS', 'score': 11.3}, {'connected_gene': 'PRRT3', 'score': 11.19}, {'connected_gene': 'BRK1', 'score': 10.76}, {'connected_gene': 'ENSG00000269894', 'score': 10.57}, {'connected_gene': 'OGG1', 'score': 10.5}, {'connected_gene': 'RPUSD3', 'score': 10.16}, {'connected_gene': 'THUMPD3-AS1', 'score': 10.12}, {'connected_gene': 'CAMK1', 'score': 5.94}, {'connected_gene': 'ARPC4', 'score': 1.57}, {'connected_gene': 'GC03M010202', 'score': 0.39}]
chr3 GH03I009777 9777842 9782400 1.01 [{'connected_gene': 'TADA3', 'score': 10.65}, {'connected_gene': 'TTLL3', 'score': 9.49}, {'connected_gene': 'RPUSD3', 'score': 5.7}, {'connected_gene': 'ARPC4', 'score': 0.39}, {'connected_gene': 'CAMK1', 'score': 0.39}, {'connected_gene': 'OGG1', 'score': 0.29}]
chr3 GH03I010201 10201193 10207849 1.63 [{'connected_gene': 'GC03M010202', 'score': 550.77}, {'connected_gene': 'IRAK2', 'score': 24.19}, {'connected_gene': 'TATDN2', 'score': 15.85}, {'connected_gene': 'VHL', 'score': 15.48}, {'connected_gene': 'GHRLOS', 'score': 15.31}, {'connected_gene': 'ARPC4', 'score': 14.0}, {'connected_gene': 'FANCD2OS', 'score': 11.28}, {'connected_gene': 'GHRL', 'score': 10.65}, {'connected_gene': 'SEC13', 'score': 9.83}, {'connected_gene': 'CAMK1', 'score': 9.61}, {'connected_gene': 'TADA3', 'score': 9.28}, {'connected_gene': 'ARPC4-TTLL3', 'score': 9.28}, {'connected_gene': 'LINC00852', 'score': 4.91}]