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
ENST00000226067 [[53342372, 53342960], [53345111, 53345447], [53392587, 53392808], [53398024, 53402426]] [[53342845, 53342960], [53345111, 53345447], [53392587, 53392808], [53398024, 53398240]]
ENST00000430986 [[53343170, 53343247], [53345111, 53345447], [53392587, 53392808], [53398024, 53398775]] [[53345251, 53345447], [53392587, 53392808], [53398024, 53398240]]
ENST00000573945 [[53343582, 53343676], [53345111, 53345447], [53392587, 53392808], [53398024, 53400350]] [[53345251, 53345447], [53392587, 53392808], [53398024, 53398240]]
ENST00000575345 [[53344951, 53345447], [53392587, 53392808], [53398024, 53400896]] [[53345251, 53345447], [53392587, 53392808], [53398024, 53398240]]
ENST00000570962 [[53344975, 53345447], [53392592, 53392808], [53398024, 53398646]] [[53345251, 53345447], [53392592, 53392630]]
ENST00000572002 [[53345176, 53345447], [53392587, 53392808], [53398021, 53398780]] [[53345176, 53345447], [53392587, 53392808], [53398021, 53398240]]
ENST00000573020 [[53360842, 53361058], [53392587, 53392785]] None
ENST00000572234 [[53360856, 53361058], [53361372, 53361418], [53366241, 53366291]] None
ENST00000573422 [[53361060, 53361138], [53392587, 53392808], [53398024, 53398218]] None
ENST00000575868 [[53361080, 53361314], [53366241, 53366344], [53392587, 53392808], [53398024, 53398027]] None
ENST00000575307 [[53396313, 53396415], [53398024, 53398504]] None
NM_002126 [[53342320, 53342960], [53345111, 53345447], [53392587, 53392808], [53398024, 53402426]] [[53342845, 53342960], [53345111, 53345447], [53392587, 53392808], [53398024, 53398240]]
NM_001330375 [[53343582, 53343676], [53345111, 53345447], [53392587, 53392808], [53398024, 53402537]] [[53345251, 53345447], [53392587, 53392808], [53398024, 53398240]]
Promoter
Chrom Start End Description
chr17 53342311 53342400 CAGE_peak_1_at_HLF_5end
chr17 53342451 53342471 CAGE_peak_4_at_HLF_5end
chr17 53342529 53342536 CAGE_peak_6_at_HLF_5end
chr17 53343202 53343207 CAGE_peak_9_at_HLF_5end
chr17 53344945 53344977 CAGE_peak_2_at_HLF_5end
chr17 53344980 53345011 CAGE_peak_3_at_HLF_5end
chr17 53345080 53345091 CAGE_peak_8_at_HLF_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I055350 55350340 55351371 0.7 [{'connected_gene': 'HLF', 'score': 11.07}, {'connected_gene': 'STXBP4', 'score': 10.45}, {'connected_gene': 'MMD', 'score': 10.34}, {'connected_gene': 'ENSG00000262079', 'score': 0.34}, {'connected_gene': 'GC17P055380', 'score': 0.29}]
chr17 GH17I055197 55197287 55199780 0.66 [{'connected_gene': 'HLF', 'score': 10.99}, {'connected_gene': 'STXBP4', 'score': 4.95}, {'connected_gene': 'GC17P055167', 'score': 0.29}, {'connected_gene': 'GC17M055237', 'score': 0.26}]
chr17 GH17I055281 55281794 55288568 2.08 [{'connected_gene': 'HLF', 'score': 22.31}, {'connected_gene': 'ENSG00000263096', 'score': 8.69}, {'connected_gene': 'MMD', 'score': 3.28}, {'connected_gene': 'COX11', 'score': 3.05}, {'connected_gene': 'STXBP4', 'score': 1.79}, {'connected_gene': 'GC17P055297', 'score': 0.39}]
chr17 GH17I055343 55343226 55345703 0.93 [{'connected_gene': 'HLF', 'score': 11.09}, {'connected_gene': 'MMD', 'score': 10.33}, {'connected_gene': 'ENSG00000262079', 'score': 0.37}, {'connected_gene': 'GC17P055380', 'score': 0.28}]
chr17 GH17I055348 55348860 55349009 0.83 [{'connected_gene': 'HLF', 'score': 11.08}, {'connected_gene': 'MMD', 'score': 10.34}, {'connected_gene': 'ENSG00000262079', 'score': 0.34}, {'connected_gene': 'GC17P055380', 'score': 0.29}]
chr17 GH17I055237 55237092 55239400 1.51 [{'connected_gene': 'HLF', 'score': 15.07}, {'connected_gene': 'GC17M055237', 'score': 0.77}, {'connected_gene': 'GC17P055167', 'score': 0.19}]
chr17 GH17I055288 55288861 55289660 0.31 [{'connected_gene': 'HLF', 'score': 19.13}, {'connected_gene': 'ENSG00000263096', 'score': 6.85}, {'connected_gene': 'GC17P055297', 'score': 0.44}]
chr17 GH17I055303 55303340 55306286 1.12 [{'connected_gene': 'HLF', 'score': 16.07}, {'connected_gene': 'ENSG00000263096', 'score': 6.01}, {'connected_gene': 'GC17M055299', 'score': 0.77}, {'connected_gene': 'GC17M055312', 'score': 0.44}]
chr17 GH17I055294 55294401 55294900 0.58 [{'connected_gene': 'HLF', 'score': 16.94}, {'connected_gene': 'GC17P055297', 'score': 0.77}, {'connected_gene': 'ENSG00000263096', 'score': 0.34}]
chr17 GH17I055264 55264320 55268139 2.14 [{'connected_gene': 'HLF', 'score': 550.77}, {'connected_gene': 'PIR42816', 'score': 550.77}]
chr17 GH17I055301 55301329 55303335 0.92 [{'connected_gene': 'GC17M055299', 'score': 550.77}, {'connected_gene': 'HLF', 'score': 16.77}, {'connected_gene': 'ENSG00000263096', 'score': 6.79}, {'connected_gene': 'GC17M055312', 'score': 0.39}]
chr17 GH17I055320 55320331 55321512 0.52 [{'connected_gene': 'GC17M055312', 'score': 0.44}, {'connected_gene': 'ENSG00000262079', 'score': 0.44}, {'connected_gene': 'HLF', 'score': 0.22}]
chr17 GH17I055263 55263720 55264200 0.8 [{'connected_gene': 'GC17P055263', 'score': 550.77}, {'connected_gene': 'HLF', 'score': 550.77}]
chr17 GH17I055315 55314140 55314289 0.49 [{'connected_gene': 'GC17M055312', 'score': 550.77}, {'connected_gene': 'ENSG00000262079', 'score': 0.39}, {'connected_gene': 'HLF', 'score': 0.25}]
chr17 GH17I055306 55306360 55306529 0.91 [{'connected_gene': 'GC17M055312', 'score': 0.44}, {'connected_gene': 'GC17M055299', 'score': 0.44}, {'connected_gene': 'HLF', 'score': 0.26}]
chr17 GH17I055272 55272246 55275029 1.25 [{'connected_gene': 'ENSG00000263096', 'score': 550.77}, {'connected_gene': 'HLF', 'score': 5.89}, {'connected_gene': 'PIR42816', 'score': 0.44}]
chr17 GH17I055295 55295313 55295794 0.96 [{'connected_gene': 'GC17P055297', 'score': 550.77}, {'connected_gene': 'HLF', 'score': 12.11}, {'connected_gene': 'ENSG00000263096', 'score': 0.34}]
chr17 GH17I055268 55268587 55269693 0.46 [{'connected_gene': 'PIR42816', 'score': 550.77}, {'connected_gene': 'HLF', 'score': 0.77}, {'connected_gene': 'ENSG00000263096', 'score': 0.77}]
chr17 GH17I055275 55275119 55278815 1 [{'connected_gene': 'ENSG00000263096', 'score': 8.42}, {'connected_gene': 'HLF', 'score': 5.85}, {'connected_gene': 'GC17P055297', 'score': 0.34}]
chr17 GH17I055296 55296040 55296209 0.89 [{'connected_gene': 'GC17P055297', 'score': 550.77}, {'connected_gene': 'HLF', 'score': 12.11}, {'connected_gene': 'ENSG00000263096', 'score': 6.9}]
chr17 GH17I055280 55280144 55281597 0.52 [{'connected_gene': 'ENSG00000263096', 'score': 0.44}, {'connected_gene': 'HLF', 'score': 0.37}, {'connected_gene': 'GC17P055297', 'score': 0.37}]
chr17 GH17I055314 55314683 55315492 0.31 [{'connected_gene': 'GC17M055312', 'score': 550.77}, {'connected_gene': 'ENSG00000263096', 'score': 5.84}, {'connected_gene': 'ENSG00000262079', 'score': 0.39}, {'connected_gene': 'HLF', 'score': 0.23}]
chr17 GH17I055067 55067553 55070545 0.89 [{'connected_gene': 'GC17P055069', 'score': 550.77}, {'connected_gene': 'COX11', 'score': 15.04}, {'connected_gene': 'HLF', 'score': 11.54}, {'connected_gene': 'STXBP4', 'score': 0.15}]