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
ENST00000359842 [[165370158, 165370647], [165376048, 165376154], [165377463, 165377555], [165378794, 165378927], [165379938, 165380068], [165380185, 165380346], [165386277, 165386457], [165389106, 165389251], [165397955, 165398203], [165414081, 165414433]] [[165370499, 165370647], [165376048, 165376154], [165377463, 165377555], [165378794, 165378927], [165379938, 165380068], [165380185, 165380346], [165386277, 165386457], [165389106, 165389251], [165397955, 165398203], [165414081, 165414130]]
ENST00000465764 [[165406164, 165406438], [165414081, 165414409]] None
ENST00000470566 [[165379986, 165380068], [165380185, 165380346], [165386277, 165386457], [165389106, 165389251], [165393987, 165394209]] None
NM_001256570 [[165370158, 165370647], [165376048, 165376154], [165377463, 165377555], [165378794, 165378927], [165379938, 165380068], [165380185, 165380346], [165386277, 165386457], [165389106, 165389251], [165393987, 165394045], [165397955, 165398203], [165414081, 165414592]] [[165370499, 165370647], [165376048, 165376154], [165377463, 165377555], [165378794, 165378927], [165379938, 165380068], [165380185, 165380346], [165386277, 165386457], [165389106, 165389179]]
NM_006917 [[165370158, 165370647], [165376048, 165376154], [165377463, 165377555], [165378794, 165378927], [165379938, 165380068], [165380185, 165380346], [165386277, 165386457], [165389106, 165389251], [165397955, 165398203], [165414081, 165414592]] [[165370499, 165370647], [165376048, 165376154], [165377463, 165377555], [165378794, 165378927], [165379938, 165380068], [165380185, 165380346], [165386277, 165386457], [165389106, 165389251], [165397955, 165398203], [165414081, 165414130]]
NR_033824 [[165406164, 165406438], [165414081, 165414592]] None
NM_001256571 [[165370158, 165370647], [165376048, 165376154], [165377463, 165377555], [165378794, 165378927], [165379938, 165380068], [165380185, 165380346], [165386277, 165386457], [165389106, 165389251], [165393987, 165394221]] [[165370499, 165370647], [165376048, 165376154], [165377463, 165377555], [165378794, 165378927], [165379938, 165380068], [165380185, 165380346], [165386277, 165386457], [165389106, 165389179]]
Promoter
Chrom Start End Description
chr1 165394215 165394226 CAGE_peak_8_at_RXRG_5end
chr1 165414227 165414242 CAGE_peak_2_at_RXRG_5end
chr1 165414259 165414273 CAGE_peak_6_at_RXRG_5end
chr1 165414280 165414289 CAGE_peak_10_at_RXRG_5end
chr1 165414304 165414313 CAGE_peak_12_at_RXRG_5end
chr1 165414325 165414369 CAGE_peak_1_at_RXRG_5end
chr1 165414382 165414394 CAGE_peak_4_at_RXRG_5end
chr1 165414414 165414430 CAGE_peak_3_at_RXRG_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I165398 165398084 165398233 0.38 [{'connected_gene': 'RXRG', 'score': 10.75}, {'connected_gene': 'MGST3', 'score': 10.4}, {'connected_gene': 'LMX1A', 'score': 0.26}, {'connected_gene': 'GC01M165392', 'score': 0.26}]
chr1 GH01I165423 165423799 165425981 0.72 [{'connected_gene': 'RXRG', 'score': 11.45}, {'connected_gene': 'GC01M165392', 'score': 0.39}, {'connected_gene': 'LMX1A', 'score': 0.2}]
chr1 GH01I165486 165486409 165487534 0.38 [{'connected_gene': 'RXRG', 'score': 11.38}, {'connected_gene': 'ENSG00000230748', 'score': 0.39}, {'connected_gene': 'LOC400794', 'score': 0.15}]
chr1 GH01I165482 165482024 165482740 0.83 [{'connected_gene': 'RXRG', 'score': 11.39}, {'connected_gene': 'ENSG00000230748', 'score': 0.37}, {'connected_gene': 'LOC400794', 'score': 0.15}]
chr1 GH01I165537 165537451 165537661 0.22 [{'connected_gene': 'RXRG', 'score': 10.4}, {'connected_gene': 'ENSG00000236206', 'score': 9.31}, {'connected_gene': 'LOC105371565', 'score': 0.77}, {'connected_gene': 'LRRC52', 'score': 0.44}, {'connected_gene': 'LOC400794', 'score': 0.26}]
chr1 GH01I165236 165236048 165236281 0.76 [{'connected_gene': 'RXRG', 'score': 2.52}, {'connected_gene': 'LOC102725140', 'score': 0.34}, {'connected_gene': 'LMX1A', 'score': 0.13}]
chr1 GH01I165235 165235515 165235885 0.8 [{'connected_gene': 'RXRG', 'score': 6.17}, {'connected_gene': 'LOC102725140', 'score': 0.37}, {'connected_gene': 'LMX1A', 'score': 0.13}]
chr1 GH01I165443 165443173 165445841 1.36 [{'connected_gene': 'RXRG', 'score': 550.77}, {'connected_gene': 'GC01M165392', 'score': 0.44}]
chr1 GH01I165452 165452117 165452970 0.2 [{'connected_gene': 'RXRG', 'score': 0.44}, {'connected_gene': 'ENSG00000230748', 'score': 0.25}]
chr1 GH01I165538 165538770 165540314 0.72 [{'connected_gene': 'LRRC52', 'score': 10.84}, {'connected_gene': 'RXRG', 'score': 10.4}, {'connected_gene': 'MGST3', 'score': 5.76}, {'connected_gene': 'LOC105371565', 'score': 0.77}, {'connected_gene': 'LOC400794', 'score': 0.26}]
chr1 GH01I165593 165593044 165593213 0.65 [{'connected_gene': 'MGST3', 'score': 11.06}, {'connected_gene': 'RXRG', 'score': 10.17}, {'connected_gene': 'LMX1A', 'score': 10.01}, {'connected_gene': 'TRK-CTT13-1', 'score': 0.77}, {'connected_gene': 'LOC400794', 'score': 0.39}]
chr1 GH01I165601 165601764 165602001 0.93 [{'connected_gene': 'MGST3', 'score': 17.49}, {'connected_gene': 'RXRG', 'score': 9.73}, {'connected_gene': 'ENSG00000236206', 'score': 0.77}]
chr1 GH01I165383 165383184 165383698 0.38 [{'connected_gene': 'LMX1A', 'score': 11.4}, {'connected_gene': 'RXRG', 'score': 10.4}, {'connected_gene': 'GC01M165392', 'score': 0.22}]