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
ENST00000487806 [[84964007, 84964231], [84967508, 84967653], [84969328, 84969516]] None
ENST00000370645 [[84964007, 84964231], [84967508, 84967653], [84971693, 84971984], [84972118, 84972248]] [[84967527, 84967653], [84971693, 84971774]]
ENST00000370641 [[84964011, 84964231], [84967508, 84967653], [84971693, 84972248]] [[84967527, 84967653], [84971693, 84971774]]
NM_005274 [[84964005, 84964231], [84967508, 84967653], [84971693, 84971984], [84972118, 84972262]] [[84967527, 84967653], [84971693, 84971774]]
Promoter
Chrom Start End Description
chr1 84971796 84971815 CAGE_peak_3_at_GNG5_5end
chr1 84971836 84971893 CAGE_peak_1_at_GNG5_5end
chr1 84972250 84972271 CAGE_peak_2_at_GNG5_5end
chr1 84972289 84972300 CAGE_peak_4_at_GNG5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I084478 84478658 84480957 2.06 [{'connected_gene': 'RPF1', 'score': 557.47}, {'connected_gene': 'ENSG00000271576', 'score': 24.23}, {'connected_gene': 'C1orf52', 'score': 13.4}, {'connected_gene': 'GNG5', 'score': 8.35}, {'connected_gene': 'CTBS', 'score': 6.56}, {'connected_gene': 'SPATA1', 'score': 0.31}]
chr1 GH01I084379 84378652 84378785 0.22 [{'connected_gene': 'DNASE2B', 'score': 12.51}, {'connected_gene': 'ENSG00000199959', 'score': 9.92}, {'connected_gene': 'RPF1', 'score': 9.8}, {'connected_gene': 'SSX2IP', 'score': 5.67}, {'connected_gene': 'SAMD13', 'score': 2.54}, {'connected_gene': 'GNG5', 'score': 1.52}, {'connected_gene': 'UOX', 'score': 0.37}, {'connected_gene': 'GC01M084160', 'score': 0.31}, {'connected_gene': 'GC01M084333', 'score': 0.22}]
chr1 GH01I084436 84436802 84438200 0.51 [{'connected_gene': 'DNASE2B', 'score': 15.69}, {'connected_gene': 'SPATA1', 'score': 11.4}, {'connected_gene': 'GNG5', 'score': 11.4}, {'connected_gene': 'RPF1', 'score': 10.28}, {'connected_gene': 'UOX', 'score': 10.2}, {'connected_gene': 'GC01M084333', 'score': 0.77}]
chr1 GH01I084630 84630554 84636439 1.25 [{'connected_gene': 'LINC01555', 'score': 550.77}, {'connected_gene': 'SPATA1', 'score': 16.43}, {'connected_gene': 'GNG5', 'score': 10.81}, {'connected_gene': 'RPF1', 'score': 10.26}, {'connected_gene': 'CTBS', 'score': 4.39}, {'connected_gene': 'ENSG00000232622', 'score': 0.77}, {'connected_gene': 'LINC01461', 'score': 0.39}]
chr1 GH01I084991 84991466 84991960 0.67 [{'connected_gene': 'MCOLN2', 'score': 15.41}, {'connected_gene': 'LPAR3', 'score': 12.54}, {'connected_gene': 'MCOLN3', 'score': 11.38}, {'connected_gene': 'BCL10', 'score': 2.77}, {'connected_gene': 'GNG5', 'score': 1.86}]
chr1 GH01I084853 84853149 84855832 1.54 [{'connected_gene': 'LPAR3', 'score': 11.15}, {'connected_gene': 'BCL10', 'score': 7.98}, {'connected_gene': 'GNG5', 'score': 6.56}, {'connected_gene': 'MCOLN2', 'score': 1.38}, {'connected_gene': 'C1orf52', 'score': 1.31}, {'connected_gene': 'LOC102724892', 'score': 0.22}]
chr1 GH01I084886 84886775 84889864 0.63 [{'connected_gene': 'LPAR3', 'score': 6.98}, {'connected_gene': 'BCL10', 'score': 3.36}, {'connected_gene': 'GNG5', 'score': 2.21}, {'connected_gene': 'C1orf52', 'score': 1.11}, {'connected_gene': 'LOC102724892', 'score': 0.16}]
chr1 GH01I084846 84846439 84848361 1.54 [{'connected_gene': 'LPAR3', 'score': 12.51}, {'connected_gene': 'MCOLN2', 'score': 1.93}, {'connected_gene': 'GNG5', 'score': 1.83}, {'connected_gene': 'BCL10', 'score': 1.76}, {'connected_gene': 'C1orf52', 'score': 1.17}, {'connected_gene': 'LOC102724892', 'score': 0.25}]
chr1 GH01I084572 84572467 84575310 2.34 [{'connected_gene': 'CTBS', 'score': 563.59}, {'connected_gene': 'SPATA1', 'score': 9.88}, {'connected_gene': 'GNG5', 'score': 7.62}, {'connected_gene': 'MCOLN2', 'score': 1.97}, {'connected_gene': 'PIR44908', 'score': 0.44}, {'connected_gene': 'GC01P084567', 'score': 0.44}]
chr1 GH01I084618 84618725 84621647 1.46 [{'connected_gene': 'LINC01461', 'score': 550.77}, {'connected_gene': 'ENSG00000271576', 'score': 49.82}, {'connected_gene': 'SPATA1', 'score': 27.01}, {'connected_gene': 'CTBS', 'score': 17.51}, {'connected_gene': 'GNG5', 'score': 15.46}, {'connected_gene': 'C1orf52', 'score': 13.4}, {'connected_gene': 'RPF1', 'score': 10.88}, {'connected_gene': 'SAMD13', 'score': 9.92}, {'connected_gene': 'MCOLN3', 'score': 4.68}, {'connected_gene': 'GC01M084581', 'score': 0.28}]
chr1 GH01I084503 84503668 84507994 2.4 [{'connected_gene': 'SPATA1', 'score': 570.35}, {'connected_gene': 'GNG5', 'score': 562.87}, {'connected_gene': 'BCL10', 'score': 11.45}, {'connected_gene': 'CTBS', 'score': 8.57}, {'connected_gene': 'RPF1', 'score': 6.15}, {'connected_gene': 'MCOLN2', 'score': 1.44}]
chr1 GH01I084597 84597996 84600981 0.97 [{'connected_gene': 'SPATA1', 'score': 23.92}, {'connected_gene': 'GNG5', 'score': 11.77}, {'connected_gene': 'RPF1', 'score': 10.23}, {'connected_gene': 'CTBS', 'score': 9.12}, {'connected_gene': 'GC01M084581', 'score': 0.37}, {'connected_gene': 'LINC01461', 'score': 0.34}]
chr1 GH01I084568 84568639 84568806 0.22 [{'connected_gene': 'SPATA1', 'score': 10.94}, {'connected_gene': 'GNG5', 'score': 10.94}, {'connected_gene': 'CTBS', 'score': 5.5}, {'connected_gene': 'PIR44908', 'score': 0.77}, {'connected_gene': 'GC01P084567', 'score': 0.77}]
chr1 GH01I084611 84611601 84612200 0.4 [{'connected_gene': 'SPATA1', 'score': 16.59}, {'connected_gene': 'CTBS', 'score': 16.35}, {'connected_gene': 'RPF1', 'score': 10.89}, {'connected_gene': 'GNG5', 'score': 10.86}, {'connected_gene': 'LINC01461', 'score': 0.44}, {'connected_gene': 'GC01M084581', 'score': 0.31}]
chr1 GH01I084432 84432853 84436199 0.93 [{'connected_gene': 'GC01M084333', 'score': 550.77}, {'connected_gene': 'DNASE2B', 'score': 16.05}, {'connected_gene': 'GNG5', 'score': 11.39}, {'connected_gene': 'SPATA1', 'score': 11.39}, {'connected_gene': 'UOX', 'score': 11.11}, {'connected_gene': 'SAMD13', 'score': 10.78}, {'connected_gene': 'RPF1', 'score': 10.35}, {'connected_gene': 'ENSG00000199959', 'score': 10.29}]