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
ENST00000394562 [[33738078, 33738946], [33747292, 33747400], [33749008, 33750087], [33757489, 33757611], [33759206, 33759276], [33759923, 33760215]] [[33738356, 33738946], [33747292, 33747400], [33749008, 33750047]]
ENST00000304905 [[33738087, 33738946], [33747292, 33747400], [33749008, 33750087], [33759206, 33759543]] [[33738356, 33738946], [33747292, 33747400], [33749008, 33750047]]
ENST00000452764 [[33738089, 33738946], [33747292, 33747400], [33749008, 33750087], [33759923, 33760302]] [[33738356, 33738946], [33747292, 33747400], [33749008, 33750047]]
ENST00000460530 [[33738335, 33738946], [33747292, 33747400], [33747649, 33747784]] None
ENST00000479326 [[33738386, 33738946], [33747292, 33747854]] None
ENST00000447040 [[33749701, 33750087], [33759206, 33759276], [33759923, 33760218]] [[33749701, 33750047]]
ENST00000445092 [[33749839, 33750087], [33757489, 33757632], [33759206, 33759276], [33759923, 33760164]] [[33749839, 33750047]]
ENST00000428476 [[33758901, 33759093], [33759206, 33759276], [33759923, 33760184]] None
NM_018042 [[33737940, 33738946], [33747292, 33747400], [33749008, 33750087], [33759206, 33759543]] [[33738356, 33738946], [33747292, 33747400], [33749008, 33750047]]
NM_001289009 [[33737940, 33738946], [33747292, 33747400], [33749008, 33750087], [33759923, 33760195]] [[33738356, 33738946], [33747292, 33747400], [33749008, 33750047]]
Promoter
Chrom Start End Description
chr17 33759386 33759395 CAGE_peak_10_at_SLFN12_5end
chr17 33759464 33759477 CAGE_peak_3_at_SLFN12_5end
chr17 33759489 33759503 CAGE_peak_7_at_SLFN12_5end
chr17 33759509 33759538 CAGE_peak_2_at_SLFN12_5end
chr17 33759560 33759574 CAGE_peak_9_at_SLFN12_5end
chr17 33759580 33759595 CAGE_peak_4_at_SLFN12_5end
chr17 33760164 33760206 CAGE_peak_1_at_SLFN12_5end
chr17 33760269 33760280 CAGE_peak_8_at_SLFN12_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I035372 35372600 35375355 1.93 [{'connected_gene': 'SLFN11', 'score': 576.65}, {'connected_gene': 'LOC105371933', 'score': 550.77}, {'connected_gene': 'GC17M035325', 'score': 550.77}, {'connected_gene': 'LIG3', 'score': 30.48}, {'connected_gene': 'ZNF830', 'score': 21.09}, {'connected_gene': 'SLFN12', 'score': 18.69}, {'connected_gene': 'ENSG00000267102', 'score': 11.28}, {'connected_gene': 'ENSG00000267648', 'score': 10.52}, {'connected_gene': 'SLFN14', 'score': 9.96}, {'connected_gene': 'RFFL', 'score': 5.51}, {'connected_gene': 'E2F3P1', 'score': 5.41}, {'connected_gene': 'SLFN5', 'score': 4.72}, {'connected_gene': 'LOC729835', 'score': 0.77}]
chr17 GH17I035431 35431270 35434860 1.89 [{'connected_gene': 'SLFN12', 'score': 581.03}, {'connected_gene': 'ENSG00000267648', 'score': 24.5}, {'connected_gene': 'ZNF830', 'score': 13.69}, {'connected_gene': 'LIG3', 'score': 9.87}, {'connected_gene': 'ENSG00000267547', 'score': 7.97}, {'connected_gene': 'SLFN13', 'score': 6.44}, {'connected_gene': 'GC17M035431', 'score': 0.77}, {'connected_gene': 'ENSG00000267102', 'score': 0.34}]
chr17 GH17I035367 35367228 35369231 0.8 [{'connected_gene': 'SLFN12', 'score': 9.95}, {'connected_gene': 'LOC105371933', 'score': 0.77}, {'connected_gene': 'SLFN11', 'score': 0.44}, {'connected_gene': 'GC17M035325', 'score': 0.44}, {'connected_gene': 'GC17P035345', 'score': 0.34}]
chr17 GH17I035529 35529366 35532940 0.93 [{'connected_gene': 'SLFN5', 'score': 16.63}, {'connected_gene': 'AP2B1', 'score': 11.1}, {'connected_gene': 'SLFN13', 'score': 10.93}, {'connected_gene': 'NLE1', 'score': 9.8}, {'connected_gene': 'SLFN12L', 'score': 5.4}, {'connected_gene': 'RASL10B', 'score': 5.14}, {'connected_gene': 'SLFN12', 'score': 4.93}, {'connected_gene': 'CCL5', 'score': 4.74}, {'connected_gene': 'SLFN11', 'score': 4.43}, {'connected_gene': 'RFFL', 'score': 1.84}, {'connected_gene': 'GC17P035523', 'score': 0.44}]
chr17 GH17I035466 35466959 35469246 0.43 [{'connected_gene': 'SLFN12L', 'score': 10.84}, {'connected_gene': 'SLFN12', 'score': 7.96}, {'connected_gene': 'ENSG00000267648', 'score': 5.06}, {'connected_gene': 'TBC1D3H', 'score': 4.5}, {'connected_gene': 'ENSG00000267554', 'score': 0.77}, {'connected_gene': 'LOC100420061', 'score': 0.44}]
chr17 GH17I035377 35377401 35377600 0.38 [{'connected_gene': 'GC17M035377', 'score': 550.77}, {'connected_gene': 'LOC729835', 'score': 550.77}, {'connected_gene': 'SLFN12', 'score': 4.55}, {'connected_gene': 'GC17M035325', 'score': 0.77}]
chr17 GH17I035375 35375801 35376786 0.54 [{'connected_gene': 'GC17M035377', 'score': 550.77}, {'connected_gene': 'LOC729835', 'score': 550.77}, {'connected_gene': 'GC17M035325', 'score': 550.77}, {'connected_gene': 'SLFN12', 'score': 4.55}]
chr17 GH17I035981 35981316 35982719 1.35 [{'connected_gene': 'ENSG00000275431', 'score': 550.77}, {'connected_gene': 'CCL16', 'score': 550.77}, {'connected_gene': 'SLFN12', 'score': 5.12}, {'connected_gene': 'GC17M036105', 'score': 0.44}, {'connected_gene': 'GC17M036109', 'score': 0.44}]