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
ENST00000432176 [[22980877, 22985782], [22999874, 23000034], [23000853, 23000941], [23004033, 23004150], [23015828, 23015924], [23016311, 23016427], [23016959, 23017040], [23017887, 23018067], [23023562, 23023664], [23030679, 23030758], [23053543, 23053748]] [[22985207, 22985782], [22999874, 23000034], [23000853, 23000941], [23004033, 23004150], [23015828, 23015924], [23016311, 23016427], [23016959, 23017040], [23017887, 23018067], [23023562, 23023664], [23030679, 23030730]]
ENST00000440481 [[22980887, 22985782], [22986570, 22986866], [22999874, 23000034], [23000853, 23000941], [23004033, 23004150], [23015828, 23015924], [23016311, 23016427], [23016959, 23017040], [23017887, 23018067], [23023562, 23023664], [23053543, 23053749]] [[22986597, 22986866], [22999874, 23000034], [23000853, 23000941], [23004033, 23004150], [23015828, 23015924], [23016311, 23016427], [23016959, 23017040], [23017887, 23018067], [23023562, 23023664], [23053543, 23053749]]
ENST00000409923 [[22984127, 22985782], [22986570, 22986866], [22999874, 23000034], [23000853, 23000941], [23004033, 23004150], [23015828, 23015924], [23016311, 23016427], [23016959, 23017040], [23017887, 23018067], [23023562, 23023664], [23030679, 23030758], [23053543, 23053703]] [[22986597, 22986866], [22999874, 23000034], [23000853, 23000941], [23004033, 23004150], [23015828, 23015924], [23016311, 23016427], [23016959, 23017040], [23017887, 23018067], [23023562, 23023664], [23030679, 23030730]]
ENST00000498833 [[22985601, 22985782], [22986651, 22986866], [22999874, 23000034], [23000853, 23000935]] None
ENST00000477349 [[23016387, 23016427], [23016959, 23017040], [23017887, 23018067], [23030679, 23030758], [23053543, 23053707]] None
ENST00000409763 [[23017782, 23018067], [23023562, 23023664], [23030679, 23030758], [23053543, 23053693]] [[23017875, 23018067], [23023562, 23023664], [23030679, 23030730]]
ENST00000467005 [[23023368, 23023664], [23030679, 23030758], [23053543, 23053710]] None
ENST00000465661 [[23023612, 23023664], [23025166, 23025354], [23030679, 23030758], [23053543, 23053749]] None
NM_032581 [[22980877, 22985782], [22999874, 23000034], [23000853, 23000941], [23004033, 23004150], [23015828, 23015924], [23016311, 23016427], [23016959, 23017040], [23017887, 23018067], [23023562, 23023664], [23030679, 23030758], [23053543, 23053770]] [[22985207, 22985782], [22999874, 23000034], [23000853, 23000941], [23004033, 23004150], [23015828, 23015924], [23016311, 23016427], [23016959, 23017040], [23017887, 23018067], [23023562, 23023664], [23030679, 23030730]]
Promoter
Chrom Start End Description
chr7 23053697 23053715 CAGE_peak_2_at_FAM126A_5end
chr7 23053719 23053767 CAGE_peak_1_at_FAM126A_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 GH07I023055 23055722 23056000 0.94 [{'connected_gene': 'FAM126A', 'score': 11.55}, {'connected_gene': 'IL6', 'score': 10.66}, {'connected_gene': 'LOC541472', 'score': 10.66}, {'connected_gene': 'LOC105375185', 'score': 0.29}, {'connected_gene': 'LOC105375186', 'score': 0.26}]
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 GH07I022884 22884761 22886632 1.03 [{'connected_gene': 'FAM126A', 'score': 18.74}, {'connected_gene': 'SNHG26', 'score': 7.84}, {'connected_gene': 'ENSG00000226329', 'score': 7.67}, {'connected_gene': 'GC07P022881', 'score': 0.77}, {'connected_gene': 'PIR51294', 'score': 0.34}]
chr7 GH07I023086 23086122 23086291 0.79 [{'connected_gene': 'FAM126A', 'score': 10.91}, {'connected_gene': 'LOC105375186', 'score': 0.39}, {'connected_gene': 'LOC105375185', 'score': 0.21}]
chr7 GH07I022979 22979274 22981288 0.72 [{'connected_gene': 'FAM126A', 'score': 25.08}, {'connected_gene': 'PIR51294', 'score': 0.19}]
chr7 GH07I023004 23004382 23004531 0.31 [{'connected_gene': 'FAM126A', 'score': 0.44}, {'connected_gene': 'PIR51294', 'score': 0.16}]
chr7 GH07I022942 22942017 22942745 0.2 [{'connected_gene': 'FAM126A', 'score': 22.97}, {'connected_gene': 'PIR51294', 'score': 0.29}]
chr7 GH07I022996 22996586 22996645 0.5 [{'connected_gene': 'FAM126A', 'score': 550.37}, {'connected_gene': 'PIR51294', 'score': 0.17}]
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 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 GH07I022730 22730205 22731781 0.71 [{'connected_gene': 'LOC541472', 'score': 38.5}, {'connected_gene': 'FAM126A', 'score': 9.73}, {'connected_gene': 'IL6', 'score': 0.44}, {'connected_gene': 'MTCYBP42', 'score': 0.37}, {'connected_gene': 'GC07P022403', 'score': 0.05}]
chr7 GH07I022724 22724517 22729566 2.15 [{'connected_gene': 'LOC541472', 'score': 593.06}, {'connected_gene': 'IL6', 'score': 550.77}, {'connected_gene': 'FAM126A', 'score': 9.73}, {'connected_gene': 'STEAP1B', 'score': 8.72}, {'connected_gene': 'LOC100506178', 'score': 6.1}, {'connected_gene': 'GC07P022403', 'score': 0.05}]
chr7 GH07I023108 23108401 23108800 0.2 [{'connected_gene': 'NUPL2', 'score': 10.63}, {'connected_gene': 'FAM126A', 'score': 9.84}, {'connected_gene': 'KLHL7', 'score': 0.77}, {'connected_gene': 'AK3P3', 'score': 0.34}]
chr7 GH07I022871 22871907 22872699 0.88 [{'connected_gene': 'SNHG26', 'score': 17.22}, {'connected_gene': 'FAM126A', 'score': 10.19}, {'connected_gene': 'ENSG00000226329', 'score': 0.44}, {'connected_gene': 'SNORD93', 'score': 0.37}]
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 GH07I023018 23018882 23019031 0.66 [{'connected_gene': 'LOC105375185', 'score': 0.77}, {'connected_gene': 'FAM126A', 'score': 0.77}]
chr7 GH07I023016 23016782 23016931 0.68 [{'connected_gene': 'LOC105375185', 'score': 0.77}, {'connected_gene': 'FAM126A', 'score': 0.77}]
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}]
chr7 GH07I023076 23076882 23077031 0.43 [{'connected_gene': 'KLHL7-AS1', 'score': 38.55}, {'connected_gene': 'FAM126A', 'score': 10.46}, {'connected_gene': 'LOC105375186', 'score': 0.34}, {'connected_gene': 'LOC105375185', 'score': 0.22}]
chr7 GH07I023092 23092664 23094232 0.2 [{'connected_gene': 'KLHL7-AS1', 'score': 66.34}, {'connected_gene': 'FAM126A', 'score': 10.74}, {'connected_gene': 'LOC105375186', 'score': 0.44}, {'connected_gene': 'LOC105375185', 'score': 0.19}]
chr7 GH07I023104 23104906 23107829 2.01 [{'connected_gene': 'KLHL7-AS1', 'score': 629.51}, {'connected_gene': 'KLHL7', 'score': 558.81}, {'connected_gene': 'NUPL2', 'score': 10.62}, {'connected_gene': 'FAM126A', 'score': 9.84}, {'connected_gene': 'AK3P3', 'score': 5.22}]
chr7 GH07I023114 23114161 23116965 0.69 [{'connected_gene': 'KLHL7-AS1', 'score': 73.87}, {'connected_gene': 'NUPL2', 'score': 10.65}, {'connected_gene': 'FAM126A', 'score': 10.1}, {'connected_gene': 'AK3P3', 'score': 5.01}, {'connected_gene': 'KLHL7', 'score': 0.44}]
chr7 GH07I022559 22559962 22566929 1.32 [{'connected_gene': 'LOC100506178', 'score': 555.94}, {'connected_gene': 'LOC541472', 'score': 18.59}, {'connected_gene': 'IL6', 'score': 13.06}, {'connected_gene': 'FAM126A', 'score': 9.94}, {'connected_gene': 'ENSG00000232949', 'score': 0.31}, {'connected_gene': 'STEAP1B', 'score': 0.2}, {'connected_gene': 'GC07P022403', 'score': 0.1}]
chr7 GH07I022894 22894388 22894997 0.46 [{'connected_gene': 'GC07P022881', 'score': 0.39}, {'connected_gene': 'PIR51294', 'score': 0.37}, {'connected_gene': 'FAM126A', 'score': 0.13}]
chr7 GH07I022716 22716691 22719382 1.51 [{'connected_gene': 'GC07P022719', 'score': 550.77}, {'connected_gene': 'LOC541472', 'score': 19.07}, {'connected_gene': 'STEAP1B', 'score': 10.88}, {'connected_gene': 'FAM126A', 'score': 9.06}, {'connected_gene': 'LOC401312', 'score': 0.23}, {'connected_gene': 'GC07P022403', 'score': 0.06}]