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
ENST00000592345 [[14057455, 14057514], [14077327, 14077525], [14078198, 14078297], [14084875, 14085075], [14132273, 14132489]] None
ENST00000589203 [[14075985, 14077525], [14078198, 14078297], [14080187, 14080265], [14084195, 14084346], [14084875, 14085075], [14132273, 14132452]] None
ENST00000587419 [[14075992, 14077525], [14078198, 14078297], [14084875, 14085075], [14124348, 14124475], [14132273, 14132428]] [[14085052, 14085075], [14124348, 14124475], [14132273, 14132276]]
ENST00000592049 [[14077504, 14077525], [14078198, 14078297], [14080187, 14080265], [14084875, 14085075], [14132273, 14132433]] None
ENST00000592411 [[14078272, 14078297], [14080187, 14080265], [14084875, 14085075], [14124348, 14124475], [14132273, 14132428]] None
ENST00000591393 [[14082165, 14082906], [14084330, 14084346], [14084875, 14085075], [14132273, 14132427]] None
ENST00000589498 [[14099936, 14101772], [14124348, 14124475], [14132273, 14132427]] [[14101659, 14101772], [14124348, 14124475], [14132273, 14132276]]
ENST00000590202 [[14104719, 14106408], [14124348, 14124475], [14132273, 14132429]] [[14104915, 14106408], [14124348, 14124475], [14132273, 14132276]]
ENST00000588435 [[14105992, 14106408], [14132273, 14132456]] None
ENST00000587512 [[14121791, 14122170], [14124348, 14124475], [14132273, 14132428]] None
ENST00000586507 [[14122161, 14122602], [14123112, 14123206], [14124348, 14124475], [14132273, 14132437]] None
ENST00000591987 [[14124044, 14124475], [14132273, 14132431]] None
NR_033354 [[14075988, 14077525], [14078198, 14078297], [14080187, 14080265], [14084195, 14084346], [14084875, 14085075], [14132273, 14132489]] None
NM_145287 [[14099941, 14106408], [14124348, 14124475], [14132273, 14132489]] [[14104915, 14106408], [14124348, 14124475], [14132273, 14132276]]
Promoter
Chrom Start End Description
chr18 14132422 14132440 CAGE_peak_1_at_ZNF519_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I013307 13307857 13310244 0.38 [{'connected_gene': 'LDLRAD4', 'score': 11.22}, {'connected_gene': 'ZNF519', 'score': 4.36}, {'connected_gene': 'PIR43692', 'score': 0.44}, {'connected_gene': 'ENSG00000279275', 'score': 0.31}]
chr18 GH18I013445 13445201 13445800 0.79 [{'connected_gene': 'PTPN2', 'score': 16.12}, {'connected_gene': 'PSMG2', 'score': 13.06}, {'connected_gene': 'ZNF519', 'score': 12.91}, {'connected_gene': 'ENSG00000266969', 'score': 10.32}, {'connected_gene': 'ENSG00000267756', 'score': 10.22}, {'connected_gene': 'HMGB3P28', 'score': 9.77}, {'connected_gene': 'GC18P013454', 'score': 0.44}, {'connected_gene': 'LDLRAD4-AS1', 'score': 0.37}, {'connected_gene': 'LDLRAD4', 'score': 0.07}]
chr18 GH18I013824 13824000 13824401 1.45 [{'connected_gene': 'MC5R', 'score': 553.99}, {'connected_gene': 'ZNF519', 'score': 16.82}, {'connected_gene': 'ENSG00000267756', 'score': 13.18}, {'connected_gene': 'CEP192', 'score': 11.98}, {'connected_gene': 'PTPN2', 'score': 11.82}, {'connected_gene': 'RNMT', 'score': 10.99}, {'connected_gene': 'GC18M015416', 'score': 0.31}]
chr18 GH18I013310 13310785 13311886 0.43 [{'connected_gene': 'ZNF519', 'score': 4.16}, {'connected_gene': 'PIR43692', 'score': 0.77}, {'connected_gene': 'ENSG00000279275', 'score': 0.29}, {'connected_gene': 'LDLRAD4', 'score': 0.16}]
chr18 GH18I013324 13324507 13325130 0.2 [{'connected_gene': 'ZNF519', 'score': 4.57}, {'connected_gene': 'GC18P013327', 'score': 0.77}, {'connected_gene': 'PIR43692', 'score': 0.44}, {'connected_gene': 'LDLRAD4', 'score': 0.14}]
chr18 GH18I014025 14025347 14026679 0.2 [{'connected_gene': 'ZNF519', 'score': 15.55}, {'connected_gene': 'ENSG00000279352', 'score': 0.37}, {'connected_gene': 'LOC100128776', 'score': 0.31}]
chr18 GH18I014131 14131400 14133200 1.91 [{'connected_gene': 'ZNF519', 'score': 591.47}, {'connected_gene': 'ENSG00000267356', 'score': 0.31}]
chr18 GH18I014092 14092797 14093499 0.43 [{'connected_gene': 'ENSG00000267150', 'score': 0.77}, {'connected_gene': 'ENSG00000267356', 'score': 0.39}, {'connected_gene': 'ZNF519', 'score': 0.28}]