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
ENST00000381884 [[25457170, 25457507], [25458100, 25458221], [25458298, 25458383], [25458460, 25458601], [25459413, 25459524], [25459743, 25459808], [25463453, 25463538], [25466780, 25467005], [25473556, 25473722], [25478063, 25478196], [25479483, 25481098], [25481228, 25481331], [25482155, 25482264], [25483927, 25484224], [25486083, 25486207], [25486719, 25487229], [25496898, 25497018]] [[25457314, 25457507], [25458100, 25458221], [25458298, 25458383], [25458460, 25458601], [25459413, 25459524], [25459743, 25459808], [25463453, 25463538], [25466780, 25467005], [25473556, 25473722], [25478063, 25478196], [25479483, 25481098], [25481228, 25481331], [25482155, 25482264], [25483927, 25484224], [25486083, 25486207], [25486719, 25487163]]
ENST00000545981 [[25457177, 25457507], [25458100, 25458221], [25458298, 25458383], [25458460, 25458601], [25459413, 25459524], [25459743, 25459808], [25466780, 25467005], [25473556, 25473722], [25478063, 25478196], [25479483, 25481098], [25481228, 25481331], [25482155, 25482264], [25483927, 25484224], [25486083, 25486207], [25486719, 25487229], [25496898, 25496974]] [[25459763, 25459808], [25466780, 25467005], [25473556, 25473722], [25478063, 25478196], [25479483, 25481098], [25481228, 25481331], [25482155, 25482264], [25483927, 25484224], [25486083, 25486207], [25486719, 25487163]]
ENST00000471870 [[25458467, 25458601], [25459413, 25459524], [25459743, 25459808], [25460372, 25460523], [25463453, 25463493]] None
ENST00000493190 [[25459427, 25459524], [25459743, 25460217]] None
ENST00000418179 [[25463307, 25463538], [25466780, 25467005], [25473556, 25473722], [25478063, 25478132]] [[25463409, 25463538], [25466780, 25467005], [25473556, 25473722], [25478063, 25478132]]
NR_047594 [[25456411, 25457507], [25458100, 25458221], [25458298, 25458383], [25458460, 25458601], [25459413, 25459524], [25459743, 25459808], [25460406, 25460523], [25463453, 25463538], [25466780, 25467005], [25473556, 25473722], [25478063, 25478196], [25479483, 25481098], [25481228, 25481331], [25482155, 25482264], [25483927, 25484224], [25486083, 25486207], [25486719, 25487229], [25496898, 25497027]] None
NM_018451 [[25456411, 25457507], [25458100, 25458221], [25458298, 25458383], [25458460, 25458601], [25459413, 25459524], [25459743, 25459808], [25463453, 25463538], [25466780, 25467005], [25473556, 25473722], [25478063, 25478196], [25479483, 25481098], [25481228, 25481331], [25482155, 25482264], [25483927, 25484224], [25486083, 25486207], [25486719, 25487229], [25496898, 25497027]] [[25457314, 25457507], [25458100, 25458221], [25458298, 25458383], [25458460, 25458601], [25459413, 25459524], [25459743, 25459808], [25463453, 25463538], [25466780, 25467005], [25473556, 25473722], [25478063, 25478196], [25479483, 25481098], [25481228, 25481331], [25482155, 25482264], [25483927, 25484224], [25486083, 25486207], [25486719, 25487163]]
NR_047595 [[25456411, 25457507], [25458100, 25458221], [25458298, 25458383], [25458460, 25458601], [25459413, 25459524], [25459743, 25459808], [25466780, 25467005], [25473556, 25473722], [25478063, 25478196], [25479483, 25481098], [25481228, 25481331], [25482155, 25482264], [25483927, 25484224], [25486083, 25486207], [25486719, 25487229], [25496898, 25497027]] None
Promoter
Chrom Start End Description
chr13 25460367 25460369 CAGE_peak_7_at_CENPJ_5end
chr13 25496926 25497034 CAGE_peak_1_at_CENPJ_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I024910 24910598 24912012 1.11 [{'connected_gene': 'NUP58', 'score': 6.12}, {'connected_gene': 'MTMR6', 'score': 5.56}, {'connected_gene': 'PARP4', 'score': 1.74}, {'connected_gene': 'PABPC3', 'score': 1.35}, {'connected_gene': 'CENPJ', 'score': 0.39}, {'connected_gene': 'GC13P024795', 'score': 0.1}, {'connected_gene': 'PIR31198', 'score': 0.1}]
chr13 GH13I024968 24968001 24968601 0.89 [{'connected_gene': 'TPTE2P1', 'score': 560.98}, {'connected_gene': 'CENPJ', 'score': 9.57}, {'connected_gene': 'SLC25A15P3', 'score': 0.34}]
chr13 GH13I024925 24925444 24926174 0.69 [{'connected_gene': 'RNF17', 'score': 9.94}, {'connected_gene': 'TPTE2P1', 'score': 6.62}, {'connected_gene': 'CENPJ', 'score': 0.77}, {'connected_gene': 'ENSG00000273628', 'score': 0.44}]
chr13 GH13I024875 24875530 24876089 0.49 [{'connected_gene': 'RNF17', 'score': 5.28}, {'connected_gene': 'CENPJ', 'score': 0.25}, {'connected_gene': 'GC13P024795', 'score': 0.13}, {'connected_gene': 'PIR31198', 'score': 0.13}]
chr13 GH13I024764 24764122 24764181 0.5 [{'connected_gene': 'RNF17', 'score': 550.37}, {'connected_gene': 'GC13P024795', 'score': 0.39}, {'connected_gene': 'PIR31198', 'score': 0.39}, {'connected_gene': 'CENPJ', 'score': 0.1}]
chr13 GH13I024921 24921849 24924423 2.06 [{'connected_gene': 'CENPJ', 'score': 556.04}, {'connected_gene': 'TPTE2P1', 'score': 9.1}, {'connected_gene': 'RNF17', 'score': 5.25}, {'connected_gene': 'ENSG00000273628', 'score': 0.44}]
chr13 GH13I024957 24957103 24957252 0.56 [{'connected_gene': 'CENPJ', 'score': 5.43}, {'connected_gene': 'TPTE2P1', 'score': 0.39}, {'connected_gene': 'SLC25A15P3', 'score': 0.39}]
chr13 GH13I024922 24921001 24921200 0.46 [{'connected_gene': 'CENPJ', 'score': 555.9}, {'connected_gene': 'TPTE2P1', 'score': 9.93}, {'connected_gene': 'GC13P024795', 'score': 0.1}, {'connected_gene': 'PIR31198', 'score': 0.1}]
chr13 GH13I024870 24870463 24870612 0.2 [{'connected_gene': 'CENPJ', 'score': 0.23}, {'connected_gene': 'GC13P024795', 'score': 0.13}, {'connected_gene': 'PIR31198', 'score': 0.13}, {'connected_gene': 'RNF17', 'score': 0.13}]
chr13 GH13I024850 24850962 24852234 0.38 [{'connected_gene': 'CENPJ', 'score': 0.19}, {'connected_gene': 'GC13P024795', 'score': 0.15}, {'connected_gene': 'PIR31198', 'score': 0.15}, {'connected_gene': 'RNF17', 'score': 0.15}]
chr13 GH13I024097 24097272 24097943 0.78 [{'connected_gene': 'CENPJ', 'score': 11.03}, {'connected_gene': 'IPO7P2', 'score': 0.31}, {'connected_gene': 'PIR59399', 'score': 0.22}, {'connected_gene': 'SPATA13', 'score': 0.13}, {'connected_gene': 'ENSG00000273167', 'score': 0.13}]