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
ENST00000371268 [[55446464, 55446753], [55451769, 55452119], [55457508, 55457966]] [[55446738, 55446753], [55451769, 55452119], [55457508, 55457776]]
NM_182532 [[55446336, 55446753], [55451769, 55452119], [55457508, 55457966]] [[55446738, 55446753], [55451769, 55452119], [55457508, 55457776]]
Promoter
Chrom Start End Description
chr1 55446284 55446319 CAGE_peak_1_at_TMEM61_5end
chr1 55446323 55446350 CAGE_peak_2_at_TMEM61_5end
chr1 55446384 55446413 CAGE_peak_3_at_TMEM61_5end
chr1 55446510 55446545 CAGE_peak_4_at_TMEM61_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I055021 55021668 55022720 1.12 [{'connected_gene': 'PCSK9', 'score': 22.21}, {'connected_gene': 'TMEM61', 'score': 11.19}, {'connected_gene': 'GC01M055004', 'score': 0.37}, {'connected_gene': 'PIR32788', 'score': 0.37}]
chr1 GH01I055038 55038522 55041475 1.87 [{'connected_gene': 'PCSK9', 'score': 550.77}, {'connected_gene': 'TMEM61', 'score': 11.25}, {'connected_gene': 'GC01P055065', 'score': 0.31}]
chr1 GH01I055007 55007748 55007917 0.2 [{'connected_gene': 'TMEM61', 'score': 12.0}, {'connected_gene': 'GC01M055004', 'score': 0.44}, {'connected_gene': 'PIR32788', 'score': 0.44}, {'connected_gene': 'BSND', 'score': 0.44}, {'connected_gene': 'PCSK9', 'score': 0.29}]
chr1 GH01I055025 55025801 55026200 0.43 [{'connected_gene': 'TMEM61', 'score': 10.98}, {'connected_gene': 'PCSK9', 'score': 0.39}, {'connected_gene': 'GC01M055004', 'score': 0.34}, {'connected_gene': 'PIR32788', 'score': 0.34}]
chr1 GH01I055081 55081270 55081875 0.2 [{'connected_gene': 'TMEM61', 'score': 9.87}, {'connected_gene': 'GC01M055068', 'score': 0.39}, {'connected_gene': 'GC01M055067', 'score': 0.39}, {'connected_gene': 'GC01P055101', 'score': 0.34}, {'connected_gene': 'USP24', 'score': 0.12}]
chr1 GH01I055071 55071608 55071717 0.65 [{'connected_gene': 'TMEM61', 'score': 9.98}, {'connected_gene': 'GC01M055068', 'score': 0.44}, {'connected_gene': 'GC01M055067', 'score': 0.44}, {'connected_gene': 'GC01P055101', 'score': 0.29}, {'connected_gene': 'USP24', 'score': 0.11}]
chr1 GH01I054948 54948289 54948554 0.51 [{'connected_gene': 'TMEM61', 'score': 12.54}, {'connected_gene': 'ENSG00000233271', 'score': 12.48}, {'connected_gene': 'ENSG00000242396', 'score': 11.04}, {'connected_gene': 'DHCR24', 'score': 11.04}, {'connected_gene': 'ENSG00000233203', 'score': 11.04}, {'connected_gene': 'TTC22', 'score': 10.08}, {'connected_gene': 'ENSG00000237453', 'score': 10.07}, {'connected_gene': 'USP24', 'score': 1.25}, {'connected_gene': 'PIR41856', 'score': 0.77}, {'connected_gene': 'GC01M054958', 'score': 0.44}]
chr1 GH01I054939 54939665 54940807 0.43 [{'connected_gene': 'TMEM61', 'score': 24.19}, {'connected_gene': 'ENSG00000233271', 'score': 12.45}, {'connected_gene': 'ENSG00000242396', 'score': 10.7}, {'connected_gene': 'DHCR24', 'score': 10.7}, {'connected_gene': 'ENSG00000233203', 'score': 10.7}, {'connected_gene': 'TTC22', 'score': 10.08}, {'connected_gene': 'ENSG00000237453', 'score': 10.08}, {'connected_gene': 'GC01M054936', 'score': 0.77}, {'connected_gene': 'PIR41856', 'score': 0.44}]
chr1 GH01I054979 54979919 54980010 0.33 [{'connected_gene': 'TMEM61', 'score': 577.77}, {'connected_gene': 'LOC105378736', 'score': 550.77}, {'connected_gene': 'MROH7', 'score': 2.14}, {'connected_gene': 'LEXM', 'score': 1.89}, {'connected_gene': 'GC01P054966', 'score': 0.39}]
chr1 GH01I054980 54980400 54981001 1.29 [{'connected_gene': 'TMEM61', 'score': 563.94}, {'connected_gene': 'LOC105378736', 'score': 550.77}, {'connected_gene': 'ENSG00000233271', 'score': 0.39}]
chr1 GH01I054972 54972253 54974002 0.89 [{'connected_gene': 'TMEM61', 'score': 16.71}, {'connected_gene': 'LOC105378736', 'score': 0.44}, {'connected_gene': 'GC01P054966', 'score': 0.44}]
chr1 GH01I054970 54970626 54972177 1.11 [{'connected_gene': 'TMEM61', 'score': 17.63}, {'connected_gene': 'LOC105378736', 'score': 0.44}, {'connected_gene': 'GC01P054966', 'score': 0.44}]
chr1 GH01I054953 54953035 54953248 0.7 [{'connected_gene': 'TMEM61', 'score': 12.56}, {'connected_gene': 'GC01M054958', 'score': 0.77}, {'connected_gene': 'PIR41856', 'score': 0.44}]
chr1 GH01I054961 54961772 54963557 0.54 [{'connected_gene': 'TMEM61', 'score': 15.25}, {'connected_gene': 'GC01M054958', 'score': 0.77}, {'connected_gene': 'GC01P054966', 'score': 0.77}]
chr1 GH01I054955 54955326 54956359 0.46 [{'connected_gene': 'TMEM61', 'score': 17.56}, {'connected_gene': 'GC01M054958', 'score': 0.77}, {'connected_gene': 'PIR41856', 'score': 0.44}]
chr1 GH01I054949 54949967 54951522 1.06 [{'connected_gene': 'TMEM61', 'score': 24.63}, {'connected_gene': 'PIR41856', 'score': 0.77}, {'connected_gene': 'GC01M054958', 'score': 0.44}]
chr1 GH01I054950 54949172 54949365 0.5 [{'connected_gene': 'TMEM61', 'score': 12.54}, {'connected_gene': 'PIR41856', 'score': 0.77}, {'connected_gene': 'GC01M054958', 'score': 0.44}]
chr1 GH01I054926 54926637 54929194 0.78 [{'connected_gene': 'DHCR24', 'score': 16.77}, {'connected_gene': 'ENSG00000242396', 'score': 11.5}, {'connected_gene': 'ENSG00000233203', 'score': 11.5}, {'connected_gene': 'TMEM61', 'score': 11.19}, {'connected_gene': 'TTC22', 'score': 9.91}, {'connected_gene': 'ENSG00000237453', 'score': 9.9}, {'connected_gene': 'GC01P054924', 'score': 0.77}, {'connected_gene': 'GC01M054936', 'score': 0.44}]
chr1 GH01I054871 54871024 54872962 0.65 [{'connected_gene': 'ENSG00000233203', 'score': 11.55}, {'connected_gene': 'TTC22', 'score': 10.71}, {'connected_gene': 'TMEM61', 'score': 10.32}, {'connected_gene': 'ENSG00000237453', 'score': 10.28}, {'connected_gene': 'MROH7', 'score': 9.56}, {'connected_gene': 'LEXM', 'score': 5.15}, {'connected_gene': 'PIR36544', 'score': 0.77}, {'connected_gene': 'DHCR24', 'score': 0.37}, {'connected_gene': 'GC01P054854', 'score': 0.37}]
chr1 GH01I054945 54945002 54946175 1.16 [{'connected_gene': 'PIR41856', 'score': 550.77}, {'connected_gene': 'TMEM61', 'score': 23.52}, {'connected_gene': 'ENSG00000233271', 'score': 12.46}, {'connected_gene': 'ENSG00000242396', 'score': 10.69}, {'connected_gene': 'DHCR24', 'score': 10.69}, {'connected_gene': 'ENSG00000233203', 'score': 10.69}, {'connected_gene': 'TTC22', 'score': 10.08}, {'connected_gene': 'ENSG00000237453', 'score': 10.07}, {'connected_gene': 'USP24', 'score': 1.61}, {'connected_gene': 'GC01M054936', 'score': 0.44}]
chr1 GH01I054965 54965401 54966800 1.08 [{'connected_gene': 'GC01P054966', 'score': 550.77}, {'connected_gene': 'TMEM61', 'score': 6.93}, {'connected_gene': 'GC01M054958', 'score': 0.44}]
chr1 GH01I054882 54882271 54890116 2.29 [{'connected_gene': 'ENSG00000233203', 'score': 564.79}, {'connected_gene': 'DHCR24', 'score': 562.33}, {'connected_gene': 'ENSG00000242396', 'score': 550.77}, {'connected_gene': 'SSBP3-AS1', 'score': 23.2}, {'connected_gene': 'HSPB11', 'score': 14.4}, {'connected_gene': 'ENSG00000279049', 'score': 12.58}, {'connected_gene': 'TMEM61', 'score': 10.71}, {'connected_gene': 'TTC22', 'score': 10.62}, {'connected_gene': 'PARS2', 'score': 10.52}, {'connected_gene': 'LRRC42', 'score': 10.5}, {'connected_gene': 'ENSG00000237453', 'score': 10.04}, {'connected_gene': 'TTC4', 'score': 9.99}, {'connected_gene': 'LEXM', 'score': 5.27}, {'connected_gene': 'PIR36544', 'score': 0.39}]
chr1 GH01I054864 54864880 54868308 1.11 [{'connected_gene': 'ENSG00000233203', 'score': 21.5}, {'connected_gene': 'DHCR24', 'score': 19.7}, {'connected_gene': 'ENSG00000242396', 'score': 11.81}, {'connected_gene': 'TTC22', 'score': 10.31}, {'connected_gene': 'ENSG00000237453', 'score': 10.29}, {'connected_gene': 'LEXM', 'score': 5.8}, {'connected_gene': 'TMEM61', 'score': 5.22}, {'connected_gene': 'PIR36544', 'score': 0.44}, {'connected_gene': 'GC01P054854', 'score': 0.39}]
chr1 GH01I054923 54923057 54923670 0.66 [{'connected_gene': 'GC01P054925', 'score': 550.77}, {'connected_gene': 'GC01P054924', 'score': 550.77}, {'connected_gene': 'DHCR24', 'score': 19.8}, {'connected_gene': 'ENSG00000242396', 'score': 11.52}, {'connected_gene': 'ENSG00000233203', 'score': 11.52}, {'connected_gene': 'TMEM61', 'score': 10.93}, {'connected_gene': 'TTC22', 'score': 9.91}, {'connected_gene': 'ENSG00000237453', 'score': 9.9}, {'connected_gene': 'GC01P054911', 'score': 0.39}]
chr1 GH01I054934 54934093 54935672 1.11 [{'connected_gene': 'GC01M054936', 'score': 550.77}, {'connected_gene': 'DHCR24', 'score': 16.12}, {'connected_gene': 'TMEM61', 'score': 11.39}, {'connected_gene': 'ENSG00000242396', 'score': 10.67}, {'connected_gene': 'ENSG00000233203', 'score': 10.67}, {'connected_gene': 'GC01P054924', 'score': 0.39}]
chr1 GH01I054856 54856102 54863609 1.37 [{'connected_gene': 'ENSG00000233203', 'score': 21.3}, {'connected_gene': 'DHCR24', 'score': 19.24}, {'connected_gene': 'LEXM', 'score': 18.32}, {'connected_gene': 'ENSG00000242396', 'score': 11.78}, {'connected_gene': 'TTC22', 'score': 10.08}, {'connected_gene': 'ENSG00000237453', 'score': 9.99}, {'connected_gene': 'LDLRAD1', 'score': 9.33}, {'connected_gene': 'TCEANC2', 'score': 8.86}, {'connected_gene': 'TMEM59', 'score': 8.86}, {'connected_gene': 'TMEM61', 'score': 5.9}, {'connected_gene': 'GC01P054854', 'score': 0.44}, {'connected_gene': 'PIR36544', 'score': 0.37}]