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
ENST00000415576 [[23713815, 23714031], [23724522, 23724649], [23731821, 23731946], [23738085, 23738208], [23758793, 23758913], [23759031, 23759094], [23772282, 23772788]] [[23713929, 23714031], [23724522, 23724649], [23731821, 23731946], [23738085, 23738208], [23758793, 23758913], [23759031, 23759094], [23772282, 23772375]]
ENST00000538664 [[23713815, 23714031], [23720008, 23720073], [23724522, 23724649], [23731821, 23731946], [23738085, 23738208], [23758793, 23758913], [23759031, 23759094], [23772282, 23773319]] [[23713929, 23714031], [23720008, 23720073], [23724522, 23724547]]
ENST00000343848 [[23713837, 23714031], [23724522, 23724535], [23731821, 23731946], [23738085, 23738208], [23758793, 23758913], [23759031, 23759094], [23772282, 23773319]] [[23713929, 23714031], [23724522, 23724535], [23731821, 23731946], [23738085, 23738208], [23758793, 23758913], [23759031, 23759094], [23772282, 23772375]]
ENST00000308268 [[23713840, 23714031], [23724522, 23724649], [23731803, 23731946], [23738085, 23738208], [23758793, 23758913], [23759031, 23759094], [23772282, 23773319]] [[23713929, 23714031], [23724522, 23724649], [23731803, 23731946], [23738085, 23738208], [23758793, 23758913], [23759031, 23759094], [23772282, 23772375]]
NM_001308188 [[23713810, 23714031], [23720008, 23720073], [23724522, 23724649], [23731821, 23731946], [23738085, 23738208], [23758793, 23758913], [23759031, 23759094], [23772282, 23773319]] [[23720049, 23720073], [23724522, 23724649], [23731821, 23731946], [23738085, 23738208], [23758793, 23758913], [23759031, 23759094], [23772282, 23772375]]
NM_001025097 [[23713815, 23714031], [23724522, 23724535], [23731821, 23731946], [23738085, 23738208], [23758793, 23758913], [23759031, 23759094], [23772282, 23773319]] [[23713929, 23714031], [23724522, 23724535], [23731821, 23731946], [23738085, 23738208], [23758793, 23758913], [23759031, 23759094], [23772282, 23772375]]
NM_001025096 [[23713815, 23714031], [23724522, 23724649], [23731821, 23731946], [23738085, 23738208], [23758793, 23758913], [23759031, 23759094], [23772282, 23773319]] [[23713929, 23714031], [23724522, 23724649], [23731821, 23731946], [23738085, 23738208], [23758793, 23758913], [23759031, 23759094], [23772282, 23772375]]
NM_144662 [[23713815, 23714031], [23724522, 23724649], [23731803, 23731946], [23738085, 23738208], [23758793, 23758913], [23759031, 23759094], [23772282, 23773319]] [[23713929, 23714031], [23724522, 23724649], [23731803, 23731946], [23738085, 23738208], [23758793, 23758913], [23759031, 23759094], [23772282, 23772375]]
Promoter
Chrom Start End Description
chr18 23713808 23713861 CAGE_peak_1_at_PSMA8_5end
chr18 23713873 23713887 CAGE_peak_2_at_PSMA8_5end
chr18 23713913 23713919 CAGE_peak_3_at_PSMA8_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I026171 26171001 26171400 0.5 [{'connected_gene': 'DHFRP1', 'score': 550.77}, {'connected_gene': 'PSMA8', 'score': 0.28}]
chr18 GH18I026151 26151217 26151366 0.2 [{'connected_gene': 'PSMA8', 'score': 0.37}, {'connected_gene': 'DHFRP1', 'score': 0.34}]
chr18 GH18I026133 26133277 26134247 1.43 [{'connected_gene': 'PSMA8', 'score': 550.77}, {'connected_gene': 'TAF4B', 'score': 5.95}, {'connected_gene': 'GC18P026127', 'score': 0.44}]
chr18 GH18I026190 26190354 26192056 0.87 [{'connected_gene': 'GC18M026312', 'score': 550.77}, {'connected_gene': 'SS18', 'score': 5.34}, {'connected_gene': 'NPM1P2', 'score': 0.39}, {'connected_gene': 'PSMA8', 'score': 0.22}]