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
ENST00000361641 [[184020810, 184021024], [184023487, 184023569], [184023861, 184023997], [184041290, 184041432], [184041960, 184043346]] [[184020889, 184021024], [184023487, 184023569], [184023861, 184023997], [184041290, 184041432], [184041960, 184041981]]
ENST00000485209 [[184020812, 184021024], [184023487, 184023569], [184023861, 184023997], [184027294, 184027374], [184041290, 184041432], [184041960, 184042114]] [[184020889, 184021024], [184023487, 184023569], [184023861, 184023997], [184027294, 184027301]]
ENST00000533373 [[184020859, 184021024], [184023487, 184023569], [184023861, 184023997], [184041290, 184041328], [184041960, 184042157]] [[184020889, 184021024], [184023487, 184023569], [184023861, 184023997], [184041290, 184041328], [184041960, 184041974]]
ENST00000367518 [[184020866, 184021024], [184023487, 184023569], [184023861, 184023997], [184039749, 184039946]] None
ENST00000423085 [[184020879, 184021024], [184023487, 184023569], [184023861, 184023997], [184041960, 184043340]] [[184020889, 184021024], [184023487, 184023569], [184023861, 184023997], [184041960, 184041997]]
ENST00000462677 [[184020893, 184021024], [184023487, 184023569], [184023861, 184023997], [184039749, 184039866], [184041290, 184041432], [184041960, 184042980]] [[184020893, 184021024], [184023487, 184023569], [184023861, 184023997], [184039749, 184039810]]
ENST00000457455 [[184023494, 184023569], [184023861, 184024203]] None
NM_001127394 [[184020784, 184021024], [184023487, 184023569], [184023861, 184023997], [184041960, 184043346]] [[184020889, 184021024], [184023487, 184023569], [184023861, 184023997], [184041960, 184041997]]
NM_001300766 [[184020784, 184021024], [184023487, 184023569], [184023861, 184023997], [184041290, 184041328], [184041960, 184043346]] [[184020889, 184021024], [184023487, 184023569], [184023861, 184023997], [184041290, 184041328], [184041960, 184041974]]
NM_052965 [[184020784, 184021024], [184023487, 184023569], [184023861, 184023997], [184041290, 184041432], [184041960, 184043346]] [[184020889, 184021024], [184023487, 184023569], [184023861, 184023997], [184041290, 184041432], [184041960, 184041981]]
NM_001300764 [[184020784, 184021024], [184023487, 184023569], [184023861, 184023997], [184041290, 184041444], [184041960, 184043346]] [[184020889, 184021024], [184023487, 184023569], [184023861, 184023997], [184041290, 184041444], [184041960, 184041981]]
NR_023349 [[184020784, 184021024], [184023487, 184023569], [184023861, 184023997], [184039749, 184039866], [184041290, 184041432], [184041960, 184043346]] None
NR_125335 [[184020784, 184021024], [184023487, 184023569], [184023861, 184023997], [184027294, 184027374], [184041290, 184041432], [184041960, 184043346]] None
Promoter
Chrom Start End Description
chr1 184020777 184020799 CAGE_peak_2_at_TSEN15_5end
chr1 184020812 184020826 CAGE_peak_3_at_TSEN15_5end
chr1 184020830 184020895 CAGE_peak_1_at_TSEN15_5end
chr1 184020899 184020910 CAGE_peak_4_at_TSEN15_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I184030 184030069 184034642 0.99 [{'connected_gene': 'APOBEC4', 'score': 9.66}, {'connected_gene': 'TSEN15', 'score': 6.45}, {'connected_gene': 'COLGALT2', 'score': 5.36}, {'connected_gene': 'GC01P183964', 'score': 0.2}]
chr1 GH01I183997 183997530 183998775 0.46 [{'connected_gene': 'COLGALT2', 'score': 31.26}, {'connected_gene': 'APOBEC4', 'score': 9.59}, {'connected_gene': 'TSEN15', 'score': 5.23}, {'connected_gene': 'ENSG00000271387', 'score': 4.23}, {'connected_gene': 'GC01P183964', 'score': 0.29}]
chr1 GH01I184036 184036008 184038267 2.5 [{'connected_gene': 'COLGALT2', 'score': 568.33}, {'connected_gene': 'TSEN15', 'score': 7.81}, {'connected_gene': 'RGL1', 'score': 2.97}, {'connected_gene': 'GC01P183964', 'score': 0.19}]
chr1 GH01I183955 183955643 183958542 1.49 [{'connected_gene': 'COLGALT2', 'score': 11.92}, {'connected_gene': 'TSEN15', 'score': 10.28}, {'connected_gene': 'GC01M183940', 'score': 0.44}, {'connected_gene': 'GC01P183964', 'score': 0.44}]
chr1 GH01I184010 184010132 184014461 0.31 [{'connected_gene': 'COLGALT2', 'score': 31.19}, {'connected_gene': 'TSEN15', 'score': 19.21}, {'connected_gene': 'GC01P183964', 'score': 0.25}]
chr1 GH01I184053 184053401 184053800 0.43 [{'connected_gene': 'COLGALT2', 'score': 550.77}, {'connected_gene': 'TSEN15', 'score': 550.77}, {'connected_gene': 'GC01M184052', 'score': 0.34}]
chr1 GH01I184018 184018625 184020245 0.49 [{'connected_gene': 'TSEN15', 'score': 6.57}, {'connected_gene': 'COLGALT2', 'score': 5.22}, {'connected_gene': 'RGL1', 'score': 4.48}, {'connected_gene': 'GC01P183964', 'score': 0.22}]
chr1 GH01I184050 184050440 184053087 2.1 [{'connected_gene': 'TSEN15', 'score': 558.53}, {'connected_gene': 'COLGALT2', 'score': 550.77}, {'connected_gene': 'LAMC1-AS1', 'score': 20.2}, {'connected_gene': 'RNF2', 'score': 17.87}, {'connected_gene': 'ENSG00000271387', 'score': 11.92}, {'connected_gene': 'SMG7', 'score': 10.4}, {'connected_gene': 'LAMC2', 'score': 10.18}, {'connected_gene': 'GC01M184052', 'score': 0.31}]
chr1 GH01I183951 183951880 183954365 0.38 [{'connected_gene': 'TSEN15', 'score': 10.78}, {'connected_gene': 'COLGALT2', 'score': 10.63}, {'connected_gene': 'GC01M183940', 'score': 0.77}, {'connected_gene': 'GC01P183964', 'score': 0.39}]
chr1 GH01I183945 183945166 183946151 0.92 [{'connected_gene': 'TSEN15', 'score': 10.77}, {'connected_gene': 'COLGALT2', 'score': 10.62}, {'connected_gene': 'GC01M183940', 'score': 0.77}, {'connected_gene': 'GC01M183931', 'score': 0.39}]
chr1 GH01I184040 184040706 184042199 0.31 [{'connected_gene': 'TSEN15', 'score': 6.65}, {'connected_gene': 'COLGALT2', 'score': 0.39}, {'connected_gene': 'GC01P183964', 'score': 0.18}]
chr1 GH01I184006 184006589 184007565 0.2 [{'connected_gene': 'TSEN15', 'score': 5.19}, {'connected_gene': 'COLGALT2', 'score': 4.86}, {'connected_gene': 'GC01P183964', 'score': 0.26}]
chr1 GH01I184028 184028913 184029984 0.69 [{'connected_gene': 'TSEN15', 'score': 4.62}, {'connected_gene': 'COLGALT2', 'score': 0.34}, {'connected_gene': 'GC01P183964', 'score': 0.2}]
chr1 GH01I184024 184024716 184026036 1.01 [{'connected_gene': 'TSEN15', 'score': 4.92}, {'connected_gene': 'COLGALT2', 'score': 0.31}, {'connected_gene': 'GC01P183964', 'score': 0.21}]
chr1 GH01I183985 183985575 183986152 0.2 [{'connected_gene': 'TSEN15', 'score': 5.48}, {'connected_gene': 'GC01P183964', 'score': 0.34}, {'connected_gene': 'COLGALT2', 'score': 0.2}]
chr1 GH01I184021 184021341 184023528 0.74 [{'connected_gene': 'TSEN15', 'score': 6.69}, {'connected_gene': 'COLGALT2', 'score': 0.31}, {'connected_gene': 'GC01P183964', 'score': 0.22}]
chr1 GH01I184191 184190975 184192056 0.31 [{'connected_gene': 'TSEN15', 'score': 4.11}, {'connected_gene': 'ENSG00000199840', 'score': 0.37}, {'connected_gene': 'GC01M184171', 'score': 0.37}, {'connected_gene': 'LOC102724846', 'score': 0.34}]
chr1 GH01I184158 184158028 184164889 1.36 [{'connected_gene': 'TSEN15', 'score': 6.88}, {'connected_gene': 'ENSG00000199840', 'score': 0.39}, {'connected_gene': 'GC01M184171', 'score': 0.39}, {'connected_gene': 'LOC102724830', 'score': 0.25}]
chr1 GH01I184150 184150662 184153999 0.66 [{'connected_gene': 'TSEN15', 'score': 6.89}, {'connected_gene': 'ENSG00000199840', 'score': 0.37}, {'connected_gene': 'GC01M184171', 'score': 0.37}, {'connected_gene': 'LOC102724830', 'score': 0.28}]
chr1 GH01I184078 184078383 184079596 0.54 [{'connected_gene': 'TSEN15', 'score': 4.77}, {'connected_gene': 'GC01M184052', 'score': 0.77}, {'connected_gene': 'GC01P184096', 'score': 0.37}]
chr1 GH01I184059 184059630 184061568 0.49 [{'connected_gene': 'TSEN15', 'score': 14.81}, {'connected_gene': 'GC01M184052', 'score': 0.37}]
chr1 GH01I184061 184061747 184061916 0.56 [{'connected_gene': 'TSEN15', 'score': 0.39}, {'connected_gene': 'GC01M184052', 'score': 0.37}]
chr1 GH01I184056 184056165 184058052 0.66 [{'connected_gene': 'TSEN15', 'score': 0.44}, {'connected_gene': 'GC01M184052', 'score': 0.37}]
chr1 GH01I184064 184064569 184064902 0.33 [{'connected_gene': 'TSEN15', 'score': 4.8}, {'connected_gene': 'GC01M184052', 'score': 0.39}]
chr1 GH01I183984 183984608 183985007 0.38 [{'connected_gene': 'LAMC1-AS1', 'score': 12.71}, {'connected_gene': 'EDEM3', 'score': 9.67}, {'connected_gene': 'TSEN15', 'score': 5.48}, {'connected_gene': 'GC01P183964', 'score': 0.34}, {'connected_gene': 'COLGALT2', 'score': 0.2}]
chr1 GH01I184113 184113427 184113576 0.31 [{'connected_gene': 'LOC102724830', 'score': 550.77}, {'connected_gene': 'TSEN15', 'score': 6.99}, {'connected_gene': 'ENSG00000199840', 'score': 0.22}, {'connected_gene': 'GC01M184171', 'score': 0.22}]