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
ENST00000260102 [[55047769, 55047951], [55049070, 55049225], [55049827, 55049993], [55055222, 55055346], [55059941, 55060461]] [[55047843, 55047951], [55049070, 55049225], [55049827, 55049993], [55055222, 55055346], [55059941, 55060279]]
ENST00000519831 [[55047836, 55047951], [55049070, 55049225], [55049827, 55049993], [55055222, 55055387]] [[55047843, 55047951], [55049070, 55049225], [55049827, 55049993], [55055222, 55055387]]
ENST00000522521 [[55049067, 55049098], [55049170, 55049225], [55049827, 55049993], [55055222, 55055346], [55059941, 55060418]] [[55059997, 55060279]]
NM_014175 [[55047780, 55047951], [55049070, 55049225], [55049827, 55049993], [55055222, 55055346], [55059941, 55061074]] [[55047843, 55047951], [55049070, 55049225], [55049827, 55049993], [55055222, 55055346], [55059941, 55060279]]
Promoter
Chrom Start End Description
chr8 55047763 55047845 CAGE_peak_1_at_MRPL15_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I054143 54143065 54144516 0.2 [{'connected_gene': 'RGS20', 'score': 10.01}, {'connected_gene': 'ATP6V1H', 'score': 9.96}, {'connected_gene': 'TCEA1', 'score': 6.28}, {'connected_gene': 'ENSG00000253369', 'score': 4.19}, {'connected_gene': 'MRPL15', 'score': 0.44}, {'connected_gene': 'RNU6ATAC32P', 'score': 0.44}]
chr8 GH08I054011 54011321 54011470 0.49 [{'connected_gene': 'ATP6V1H', 'score': 11.25}, {'connected_gene': 'RGS20', 'score': 10.8}, {'connected_gene': 'MRPL15', 'score': 10.77}, {'connected_gene': 'RNU6-1331P', 'score': 10.54}, {'connected_gene': 'GC08M054012', 'score': 0.77}, {'connected_gene': 'TCEA1', 'score': 0.39}, {'connected_gene': 'GC08P053986', 'score': 0.31}]
chr8 GH08I054160 54159962 54160209 0.27 [{'connected_gene': 'ATP6V1H', 'score': 20.28}, {'connected_gene': 'MRPL15', 'score': 11.9}, {'connected_gene': 'RNU6ATAC32P', 'score': 0.44}, {'connected_gene': 'GC08M054193', 'score': 0.29}]
chr8 GH08I054141 54141110 54141428 0.24 [{'connected_gene': 'ATP6V1H', 'score': 10.32}, {'connected_gene': 'MRPL15', 'score': 0.44}, {'connected_gene': 'RNU6ATAC32P', 'score': 0.39}]
chr8 GH08I054159 54159121 54159270 0.71 [{'connected_gene': 'ATP6V1H', 'score': 25.09}, {'connected_gene': 'MRPL15', 'score': 11.9}, {'connected_gene': 'RNU6ATAC32P', 'score': 0.44}, {'connected_gene': 'GC08M054193', 'score': 0.29}]
chr8 GH08I054134 54134160 54137380 2.03 [{'connected_gene': 'MRPL15', 'score': 550.77}, {'connected_gene': 'TCEA1', 'score': 7.02}, {'connected_gene': 'RNU6ATAC32P', 'score': 0.37}]
chr8 GH08I054098 54098201 54098350 0.43 [{'connected_gene': 'MRPL15', 'score': 11.8}, {'connected_gene': 'TCEA1', 'score': 7.03}, {'connected_gene': 'LYPLA1', 'score': 0.77}, {'connected_gene': 'TDGF1P5', 'score': 0.31}]
chr8 GH08I054165 54165441 54166400 1.23 [{'connected_gene': 'MRPL15', 'score': 11.5}, {'connected_gene': 'SOX17', 'score': 10.83}, {'connected_gene': 'ATP6V1H', 'score': 10.14}, {'connected_gene': 'TCEA1', 'score': 4.23}, {'connected_gene': 'RNU6ATAC32P', 'score': 0.39}, {'connected_gene': 'GC08M054193', 'score': 0.31}]
chr8 GH08I054169 54169201 54170800 1.09 [{'connected_gene': 'MRPL15', 'score': 11.52}, {'connected_gene': 'SOX17', 'score': 11.27}, {'connected_gene': 'ATP6V1H', 'score': 10.14}, {'connected_gene': 'CHCHD2P10', 'score': 4.95}, {'connected_gene': 'RNU6ATAC32P', 'score': 0.37}, {'connected_gene': 'GC08M054193', 'score': 0.34}]
chr8 GH08I054171 54171361 54172527 0.79 [{'connected_gene': 'MRPL15', 'score': 11.5}, {'connected_gene': 'CHCHD2P10', 'score': 4.66}, {'connected_gene': 'RNU6ATAC32P', 'score': 0.37}, {'connected_gene': 'GC08M054193', 'score': 0.34}]
chr8 GH08I054177 54177891 54180996 0.31 [{'connected_gene': 'MRPL15', 'score': 10.88}, {'connected_gene': 'RP1', 'score': 10.13}, {'connected_gene': 'ATP6V1H', 'score': 9.74}, {'connected_gene': 'GC08M054193', 'score': 0.39}, {'connected_gene': 'RNU6ATAC32P', 'score': 0.31}]
chr8 GH08I054139 54139084 54140270 0.49 [{'connected_gene': 'MRPL15', 'score': 0.77}, {'connected_gene': 'RNU6ATAC32P', 'score': 0.39}]
chr8 GH08I054149 54149990 54155080 1.72 [{'connected_gene': 'RNU6ATAC32P', 'score': 550.77}, {'connected_gene': 'LOC100131254', 'score': 17.93}, {'connected_gene': 'ATP6V1H', 'score': 15.87}, {'connected_gene': 'TCEA1', 'score': 6.75}, {'connected_gene': 'MRPL15', 'score': 0.37}]
chr8 GH08I054100 54100069 54102795 1.95 [{'connected_gene': 'LYPLA1', 'score': 550.77}, {'connected_gene': 'TCEA1', 'score': 18.67}, {'connected_gene': 'MRPL15', 'score': 11.82}, {'connected_gene': 'TDGF1P5', 'score': 0.31}]
chr8 GH08I054211 54211563 54213190 0.96 [{'connected_gene': 'LOC100131254', 'score': 17.91}, {'connected_gene': 'MRPL15', 'score': 11.72}, {'connected_gene': 'ATP6V1H', 'score': 8.81}, {'connected_gene': 'GC08P054198', 'score': 0.39}, {'connected_gene': 'ENSG00000253840', 'score': 0.28}]
chr8 GH08I053972 53972417 53973119 0.52 [{'connected_gene': 'LOC100131254', 'score': 550.77}, {'connected_gene': 'RNU6-1331P', 'score': 11.31}, {'connected_gene': 'ATP6V1H', 'score': 10.55}, {'connected_gene': 'MRPL15', 'score': 10.28}, {'connected_gene': 'GC08P053986', 'score': 0.39}, {'connected_gene': 'TCEA1', 'score': 0.25}]
chr8 GH08I054105 54105690 54107346 1.03 [{'connected_gene': 'PIR33175', 'score': 550.77}, {'connected_gene': 'MRPL15', 'score': 13.16}, {'connected_gene': 'TCEA1', 'score': 11.02}, {'connected_gene': 'RGS20', 'score': 10.02}, {'connected_gene': 'ATP6V1H', 'score': 1.4}, {'connected_gene': 'LYPLA1', 'score': 0.77}]