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
ENST00000463284 [[22852250, 22852804], [22862295, 22862468]] None
ENST00000358435 [[22852250, 22852804], [22857618, 22857667], [22862295, 22862470]] [[22852788, 22852804], [22857618, 22857667], [22862295, 22862398]]
ENST00000483581 [[22852589, 22852804], [22857618, 22857954]] None
ENST00000405021 [[22852589, 22852804], [22857618, 22857667], [22861772, 22861963]] [[22852788, 22852804], [22857618, 22857667], [22861772, 22861863]]
ENST00000372879 [[22852591, 22852804], [22857030, 22857167], [22857618, 22857667], [22862295, 22862410]] [[22852715, 22852804], [22857030, 22857167], [22857618, 22857667], [22862295, 22862398]]
ENST00000496129 [[22857281, 22857667], [22862295, 22862429]] None
NM_019059 [[22852250, 22852804], [22857618, 22857667], [22862295, 22862471]] [[22852788, 22852804], [22857618, 22857667], [22862295, 22862398]]
Promoter
Chrom Start End Description
chr7 22862406 22862445 CAGE_peak_2_at_TOMM7_5end
chr7 22862448 22862475 CAGE_peak_1_at_TOMM7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I023062 23062572 23062949 0.88 [{'connected_gene': 'FAM126A', 'score': 10.86}, {'connected_gene': 'TOMM7', 'score': 10.71}, {'connected_gene': 'ENSG00000226329', 'score': 6.12}, {'connected_gene': 'LOC541472', 'score': 4.59}, {'connected_gene': 'GPNMB', 'score': 4.23}, {'connected_gene': 'LOC105375186', 'score': 0.28}, {'connected_gene': 'LOC105375185', 'score': 0.26}]
chr7 GH07I023017 23017001 23017800 0.6 [{'connected_gene': 'FAM126A', 'score': 14.37}, {'connected_gene': 'TOMM7', 'score': 5.3}, {'connected_gene': 'SNHG26', 'score': 4.63}, {'connected_gene': 'LOC105375185', 'score': 0.77}]
chr7 GH07I023067 23067302 23067491 0.31 [{'connected_gene': 'FAM126A', 'score': 16.17}, {'connected_gene': 'TOMM7', 'score': 10.71}, {'connected_gene': 'LOC105375186', 'score': 0.29}, {'connected_gene': 'LOC105375185', 'score': 0.25}]
chr7 GH07I022988 22988249 22991283 0.52 [{'connected_gene': 'FAM126A', 'score': 25.63}, {'connected_gene': 'TOMM7', 'score': 17.52}, {'connected_gene': 'ENSG00000226329', 'score': 6.37}, {'connected_gene': 'GPNMB', 'score': 5.22}, {'connected_gene': 'PIR51294', 'score': 0.18}]
chr7 GH07I022952 22952408 22952551 0.2 [{'connected_gene': 'FAM126A', 'score': 11.16}, {'connected_gene': 'TOMM7', 'score': 4.94}, {'connected_gene': 'PIR51294', 'score': 0.26}]
chr7 GH07I022943 22943642 22946127 0.38 [{'connected_gene': 'FAM126A', 'score': 23.26}, {'connected_gene': 'TOMM7', 'score': 7.98}, {'connected_gene': 'PIR51294', 'score': 0.28}]
chr7 GH07I023011 23011589 23014941 2 [{'connected_gene': 'FAM126A', 'score': 565.68}, {'connected_gene': 'CLK2P1', 'score': 21.68}, {'connected_gene': 'CCDC126', 'score': 15.67}, {'connected_gene': 'TOMM7', 'score': 6.78}, {'connected_gene': 'LOC541472', 'score': 6.75}, {'connected_gene': 'ENSG00000226329', 'score': 5.37}, {'connected_gene': 'PIR51294', 'score': 0.15}]
chr7 GH07I022852 22852408 22861336 2.24 [{'connected_gene': 'SNORD93', 'score': 550.77}, {'connected_gene': 'GC07P022859', 'score': 550.77}, {'connected_gene': 'TOMM7', 'score': 34.51}, {'connected_gene': 'SNHG26', 'score': 30.09}, {'connected_gene': 'FAM126A', 'score': 10.71}, {'connected_gene': 'LOC541472', 'score': 9.75}, {'connected_gene': 'IL6', 'score': 9.74}, {'connected_gene': 'ENSG00000226329', 'score': 7.95}, {'connected_gene': 'STEAP1B', 'score': 1.52}, {'connected_gene': 'GC07P022853', 'score': 0.77}]
chr7 GH07I022896 22896482 22897352 0.72 [{'connected_gene': 'TOMM7', 'score': 9.61}, {'connected_gene': 'PIR51294', 'score': 0.39}, {'connected_gene': 'GC07P022881', 'score': 0.37}, {'connected_gene': 'FAM126A', 'score': 0.13}]
chr7 GH07I022934 22934047 22935611 0.4 [{'connected_gene': 'TOMM7', 'score': 11.08}, {'connected_gene': 'FAM126A', 'score': 10.88}, {'connected_gene': 'PIR51294', 'score': 0.31}]
chr7 GH07I022786 22786204 22787131 0.87 [{'connected_gene': 'TOMM7', 'score': 18.79}, {'connected_gene': 'GC07M022788', 'score': 0.44}, {'connected_gene': 'RPS26P32', 'score': 0.39}]
chr7 GH07I022780 22780913 22782683 0.71 [{'connected_gene': 'TOMM7', 'score': 16.18}, {'connected_gene': 'CLK2P1', 'score': 11.66}, {'connected_gene': 'TRA2A', 'score': 10.68}, {'connected_gene': 'SNHG26', 'score': 10.37}, {'connected_gene': 'CCDC126', 'score': 9.87}, {'connected_gene': 'RPS26P32', 'score': 0.44}, {'connected_gene': 'GC07M022788', 'score': 0.39}]
chr7 GH07I022782 22782722 22782891 0.67 [{'connected_gene': 'TOMM7', 'score': 15.44}, {'connected_gene': 'CLK2P1', 'score': 11.66}, {'connected_gene': 'TRA2A', 'score': 10.68}, {'connected_gene': 'SNHG26', 'score': 10.37}, {'connected_gene': 'CCDC126', 'score': 9.87}, {'connected_gene': 'RPS26P32', 'score': 0.44}, {'connected_gene': 'GC07M022788', 'score': 0.39}]
chr7 GH07I022841 22841502 22844322 0.69 [{'connected_gene': 'TOMM7', 'score': 19.87}, {'connected_gene': 'SNHG26', 'score': 15.49}, {'connected_gene': 'FAM126A', 'score': 4.63}, {'connected_gene': 'GC07P022837', 'score': 0.44}, {'connected_gene': 'GC07P022853', 'score': 0.39}]
chr7 GH07I022809 22809424 22812898 0.49 [{'connected_gene': 'TOMM7', 'score': 59.24}, {'connected_gene': 'SNHG26', 'score': 15.92}, {'connected_gene': 'FAM126A', 'score': 4.24}, {'connected_gene': 'PIR54491', 'score': 0.39}]
chr7 GH07I022819 22819721 22823838 2.04 [{'connected_gene': 'TOMM7', 'score': 610.34}, {'connected_gene': 'GC07P022823', 'score': 550.77}, {'connected_gene': 'SNHG26', 'score': 15.92}, {'connected_gene': 'EEF1A1P6', 'score': 11.71}, {'connected_gene': 'TRA2A', 'score': 9.8}, {'connected_gene': 'FAM126A', 'score': 4.79}, {'connected_gene': 'PIR54491', 'score': 0.34}]
chr7 GH07I022808 22808262 22808431 0.2 [{'connected_gene': 'TOMM7', 'score': 6.6}, {'connected_gene': 'SNHG26', 'score': 6.26}, {'connected_gene': 'PIR54491', 'score': 0.44}]
chr7 GH07I022801 22801862 22803408 0.46 [{'connected_gene': 'TOMM7', 'score': 10.69}, {'connected_gene': 'SNHG26', 'score': 5.07}, {'connected_gene': 'PIR54491', 'score': 0.77}]
chr7 GH07I022862 22862528 22868391 1.03 [{'connected_gene': 'SNHG26', 'score': 27.71}, {'connected_gene': 'TOMM7', 'score': 16.36}, {'connected_gene': 'FAM126A', 'score': 10.72}, {'connected_gene': 'ENSG00000226329', 'score': 7.08}, {'connected_gene': 'SNORD93', 'score': 0.44}]
chr7 GH07I022807 22807318 22808107 0.2 [{'connected_gene': 'SNHG26', 'score': 13.09}, {'connected_gene': 'TOMM7', 'score': 6.26}, {'connected_gene': 'PIR54491', 'score': 0.44}]
chr7 GH07I023019 23019757 23025285 1.24 [{'connected_gene': 'LOC105375185', 'score': 550.77}, {'connected_gene': 'TOMM7', 'score': 6.84}, {'connected_gene': 'LOC541472', 'score': 6.74}, {'connected_gene': 'FAM126A', 'score': 5.05}, {'connected_gene': 'IL6', 'score': 3.81}, {'connected_gene': 'LOC105375186', 'score': 0.18}]