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
ENST00000448907 [[50513685, 50513854], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666522, 50667540]] [[50513836, 50513854], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666522, 50666850]]
ENST00000371827 [[50569581, 50569672], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666522, 50669442]] [[50569663, 50569672], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666522, 50666850]]
ENST00000463650 [[50571361, 50571622], [50610628, 50610856]] None
ENST00000357083 [[50571963, 50572065], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666522, 50667071]] [[50572005, 50572065], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666522, 50666850]]
ENST00000371824 [[50574604, 50574870], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666522, 50669458]] [[50574861, 50574870], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666522, 50666850]]
ENST00000371823 [[50574637, 50574870], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666480, 50667074]] [[50574861, 50574870], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666480, 50666850]]
ENST00000371821 [[50575297, 50575636], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666480, 50668726]] [[50575612, 50575636], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666480, 50666850]]
ENST00000371819 [[50575377, 50575636], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666522, 50667966]] [[50575612, 50575636], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666522, 50666850]]
ENST00000494555 [[50575487, 50575636], [50607443, 50607530], [50610628, 50610850]] None
ENST00000492299 [[50610624, 50610869], [50642760, 50642864], [50645215, 50646972]] None
ENST00000474675 [[50642801, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663257]] None
NM_001144777 [[50513685, 50513854], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666522, 50669458]] [[50513836, 50513854], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666522, 50666850]]
NM_001324208 [[50513685, 50513854], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666480, 50669458]] [[50513836, 50513854], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666480, 50666850]]
NM_001144776 [[50569581, 50569672], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666522, 50669458]] [[50569663, 50569672], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666522, 50666850]]
NM_001144775 [[50571936, 50572065], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666522, 50669458]] [[50571948, 50572065], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666522, 50666850]]
NM_001324216 [[50574591, 50574870], [50610628, 50610869], [50642760, 50642864], [50645215, 50646972]] [[50574861, 50574870], [50610628, 50610869], [50642760, 50642864], [50645215, 50645248]]
NM_001144774 [[50574591, 50574870], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666522, 50669458]] [[50574861, 50574870], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666522, 50666850]]
NM_021952 [[50574591, 50574870], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666480, 50669458]] [[50574861, 50574870], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666480, 50666850]]
NM_001324209 [[50574591, 50574870], [50607443, 50607530], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50666522, 50669458]] [[50607524, 50607530], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50666522, 50666850]]
NM_001324212 [[50574591, 50574870], [50607443, 50607530], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666522, 50669458]] [[50607524, 50607530], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666522, 50666850]]
NM_001324217 [[50575287, 50575636], [50610628, 50610869], [50642760, 50642864], [50645215, 50646972]] [[50575612, 50575636], [50610628, 50610869], [50642760, 50642864], [50645215, 50645248]]
NR_136725 [[50575287, 50575636], [50607443, 50607530], [50610628, 50610869], [50642760, 50642864], [50645215, 50646972]] None
NM_001324215 [[50575287, 50575636], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50666522, 50669458]] [[50575612, 50575636], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50666522, 50666850]]
NM_001294348 [[50575287, 50575636], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666522, 50669458]] [[50575612, 50575636], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666522, 50666850]]
NM_001324213 [[50575287, 50575636], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666480, 50669458]] [[50575612, 50575636], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666480, 50666850]]
NM_001324214 [[50575287, 50575636], [50607443, 50607530], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666522, 50669458]] [[50607524, 50607530], [50610628, 50610869], [50642760, 50642864], [50659436, 50659590], [50661232, 50661458], [50663100, 50663139], [50666522, 50666850]]
Promoter
Chrom Start End Description
chr1 50513716 50513743 CAGE_peak_5_at_ELAVL4_5end
chr1 50513788 50513817 CAGE_peak_7_at_ELAVL4_5end
chr1 50569575 50569586 CAGE_peak_11_at_ELAVL4_5end
chr1 50571340 50571365 CAGE_peak_10_at_ELAVL4_5end
chr1 50571897 50571910 CAGE_peak_9_at_ELAVL4_5end
chr1 50571949 50571958 CAGE_peak_15_at_ELAVL4_5end
chr1 50574585 50574627 CAGE_peak_1_at_ELAVL4_5end
chr1 50575292 50575326 CAGE_peak_8_at_ELAVL4_5end
chr1 50575466 50575485 CAGE_peak_3_at_ELAVL4_5end
chr1 50575491 50575526 CAGE_peak_2_at_ELAVL4_5end
chr1 50575553 50575567 CAGE_peak_6_at_ELAVL4_5end
chr1 50575576 50575579 CAGE_peak_13_at_ELAVL4_5end
chr1 50575586 50575611 CAGE_peak_4_at_ELAVL4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I050332 50332732 50334032 1.08 [{'connected_gene': 'RPS2P11', 'score': 12.09}, {'connected_gene': 'ENSG00000237337', 'score': 9.86}, {'connected_gene': 'ELAVL4', 'score': 9.82}, {'connected_gene': 'GC01M050274', 'score': 0.39}]
chr1 GH01I050716 50716922 50718214 0.75 [{'connected_gene': 'ELAVL4', 'score': 12.1}, {'connected_gene': 'LINC01562', 'score': 10.26}, {'connected_gene': 'DMRTA2', 'score': 4.63}, {'connected_gene': 'GC01M050693', 'score': 0.44}, {'connected_gene': 'GC01P050735', 'score': 0.39}, {'connected_gene': 'GC01P050737', 'score': 0.39}, {'connected_gene': 'GC01P050734', 'score': 0.39}, {'connected_gene': 'GC01P050738', 'score': 0.39}, {'connected_gene': 'GC01P050733', 'score': 0.39}, {'connected_gene': 'GC01P050736', 'score': 0.39}, {'connected_gene': 'GC01P050732', 'score': 0.39}, {'connected_gene': 'FAF1', 'score': 0.07}]
chr1 GH01I050115 50115684 50118821 0.38 [{'connected_gene': 'ELAVL4', 'score': 10.58}, {'connected_gene': 'ENSG00000233407', 'score': 10.53}, {'connected_gene': 'ENSG00000237337', 'score': 10.36}, {'connected_gene': 'ENSG00000230828', 'score': 0.77}, {'connected_gene': 'GC01M050123', 'score': 0.44}]
chr1 GH01I050106 50106182 50106241 0.93 [{'connected_gene': 'ELAVL4', 'score': 560.23}, {'connected_gene': 'ENSG00000237337', 'score': 10.21}, {'connected_gene': 'GC01P050110', 'score': 0.77}, {'connected_gene': 'GC01M050049', 'score': 0.34}]
chr1 GH01I050108 50108871 50108930 0.88 [{'connected_gene': 'ELAVL4', 'score': 560.67}, {'connected_gene': 'GC01P050110', 'score': 550.77}, {'connected_gene': 'ENSG00000237337', 'score': 10.67}, {'connected_gene': 'GC01M050049', 'score': 0.31}]
chr1 GH01I050103 50103860 50103919 0.99 [{'connected_gene': 'ELAVL4', 'score': 559.87}, {'connected_gene': 'ENSG00000237337', 'score': 9.84}, {'connected_gene': 'GC01P050110', 'score': 0.44}, {'connected_gene': 'GC01M050049', 'score': 0.34}]
chr1 GH01I050023 50023600 50024400 1.68 [{'connected_gene': 'LOC105378708', 'score': 550.77}, {'connected_gene': 'AGBL4', 'score': 550.77}, {'connected_gene': 'ELAVL4', 'score': 10.9}]
chr1 GH01I050271 50271389 50271538 0.43 [{'connected_gene': 'GC01P050269', 'score': 550.77}, {'connected_gene': 'ENSG00000233407', 'score': 11.21}, {'connected_gene': 'ENSG00000237337', 'score': 10.47}, {'connected_gene': 'ELAVL4', 'score': 10.39}, {'connected_gene': 'LOC105378712', 'score': 0.25}]
chr1 GH01I050048 50048006 50048065 0.73 [{'connected_gene': 'GC01M050048', 'score': 550.77}, {'connected_gene': 'GC01M050047', 'score': 550.77}, {'connected_gene': 'ELAVL4', 'score': 550.77}, {'connected_gene': 'LOC105378709', 'score': 0.37}, {'connected_gene': 'GC01M050046', 'score': 0.29}, {'connected_gene': 'GC01M050049', 'score': 0.29}]
chr1 GH01I050109 50109401 50111000 0.83 [{'connected_gene': 'GC01P050110', 'score': 550.77}, {'connected_gene': 'ELAVL4', 'score': 10.67}, {'connected_gene': 'ENSG00000237337', 'score': 10.67}, {'connected_gene': 'ENSG00000230828', 'score': 0.77}]
chr1 GH01I050154 50154236 50154483 0.22 [{'connected_gene': 'ENSG00000233407', 'score': 11.03}, {'connected_gene': 'ENSG00000237337', 'score': 0.34}, {'connected_gene': 'GC01M050123', 'score': 0.31}, {'connected_gene': 'ELAVL4', 'score': 0.14}]