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
ENST00000295454 [[47033376, 47033748], [47033930, 47034022], [47034433, 47034501], [47163265, 47163486], [47322143, 47322226], [47405334, 47405472], [47405575, 47405728], [47408698, 47408943], [47427690, 47428461]] [[47033668, 47033748], [47033930, 47034022], [47034433, 47034501], [47163265, 47163486], [47322143, 47322226], [47405334, 47405472], [47405575, 47405728], [47408698, 47408943], [47427690, 47428035]]
ENST00000510909 [[47033649, 47033748], [47033930, 47034022], [47163265, 47163486], [47322143, 47322226], [47405334, 47405402]] [[47033668, 47033748], [47033930, 47034022], [47163265, 47163357]]
ENST00000538619 [[47033649, 47033748], [47033930, 47034022], [47163265, 47163486], [47322143, 47322226], [47405334, 47405472], [47405575, 47405728], [47408698, 47408943], [47427690, 47428157]] [[47033992, 47034022], [47163265, 47163486], [47322143, 47322226], [47405334, 47405472], [47405575, 47405728], [47408698, 47408943], [47427690, 47428035]]
ENST00000513567 [[46995739, 46995943], [47033930, 47034022], [47034433, 47034501], [47163265, 47163477]] [[47033949, 47034022], [47034433, 47034501], [47163265, 47163477]]
ENST00000509366 [[47033567, 47033748], [47033930, 47034022], [47034433, 47034501], [47045098, 47045362]] None
ENST00000381582 [[47033597, 47033748], [47033930, 47034022], [47034433, 47035030]] None
NM_000812 [[47033294, 47033748], [47033930, 47034022], [47034433, 47034501], [47163265, 47163486], [47322143, 47322226], [47405334, 47405472], [47405575, 47405728], [47408698, 47408943], [47427690, 47428462]] [[47033668, 47033748], [47033930, 47034022], [47034433, 47034501], [47163265, 47163486], [47322143, 47322226], [47405334, 47405472], [47405575, 47405728], [47408698, 47408943], [47427690, 47428035]]
Promoter
Chrom Start End Description
chr4 46995639 46995669 CAGE_peak_4_at_GABRB1_5end
chr4 46995689 46995706 CAGE_peak_7_at_GABRB1_5end
chr4 46995726 46995765 CAGE_peak_5_at_GABRB1_5end
chr4 47033345 47033367 CAGE_peak_3_at_GABRB1_5end
chr4 47033546 47033555 CAGE_peak_6_at_GABRB1_5end
chr4 47033568 47033603 CAGE_peak_1_at_GABRB1_5end
chr4 47033607 47033625 CAGE_peak_2_at_GABRB1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I047033 47031296 47031355 0.68 [{'connected_gene': 'GABRB1', 'score': 550.28}, {'connected_gene': 'GABRA4', 'score': 0.28}, {'connected_gene': 'LOC105374442', 'score': 0.21}]
chr4 GH04I046975 46975601 46976600 0.46 [{'connected_gene': 'GABRA4', 'score': 0.37}, {'connected_gene': 'GABRB1', 'score': 0.37}, {'connected_gene': 'GC04M046919', 'score': 0.23}]
chr4 GH04I046993 46993522 46993581 0.82 [{'connected_gene': 'GABRA4', 'score': 550.77}, {'connected_gene': 'GABRB1', 'score': 550.77}, {'connected_gene': 'GC04M046919', 'score': 0.19}]
chr4 GH04I047011 47011004 47011153 0.69 [{'connected_gene': 'COX7B2', 'score': 7.78}, {'connected_gene': 'GABRA4', 'score': 0.37}, {'connected_gene': 'GABRB1', 'score': 0.37}, {'connected_gene': 'LOC105374442', 'score': 0.17}]
chr4 GH04I047071 47071127 47072682 0.57 [{'connected_gene': 'LOC105374442', 'score': 0.34}, {'connected_gene': 'GABRA4', 'score': 0.18}, {'connected_gene': 'GABRB1', 'score': 0.18}]
chr4 GH04I047194 47194202 47195165 0.31 [{'connected_gene': 'GC04P047123', 'score': 0.19}, {'connected_gene': 'GC04P047331', 'score': 0.12}, {'connected_gene': 'GABRB1', 'score': 0.08}]
chr4 GH04I047212 47212325 47215206 0.52 [{'connected_gene': 'GC04P047123', 'score': 0.16}, {'connected_gene': 'GC04P047331', 'score': 0.13}, {'connected_gene': 'GABRB1', 'score': 0.07}]
chr4 GH04I047349 47349159 47349711 0.31 [{'connected_gene': 'GC04P047331', 'score': 0.37}, {'connected_gene': 'ENSG00000260918', 'score': 0.18}, {'connected_gene': 'GABRB1', 'score': 0.05}]
chr4 GH04I047208 47208667 47211654 0.46 [{'connected_gene': 'GC04P047123', 'score': 0.17}, {'connected_gene': 'GC04P047331', 'score': 0.13}, {'connected_gene': 'GABRB1', 'score': 0.08}]
chr4 GH04I047173 47173601 47174448 0.38 [{'connected_gene': 'GC04P047123', 'score': 0.23}, {'connected_gene': 'GC04P047331', 'score': 0.1}, {'connected_gene': 'GABRB1', 'score': 0.09}]
chr4 GH04I047031 47031400 47032201 0.68 [{'connected_gene': 'ENSG00000260918', 'score': 5.0}, {'connected_gene': 'GABRA4', 'score': 0.28}, {'connected_gene': 'GABRB1', 'score': 0.28}, {'connected_gene': 'LOC105374442', 'score': 0.21}]
chr4 GH04I047032 47032600 47032893 1.19 [{'connected_gene': 'ENSG00000260918', 'score': 4.92}, {'connected_gene': 'GABRA4', 'score': 0.28}, {'connected_gene': 'GABRB1', 'score': 0.28}, {'connected_gene': 'LOC105374442', 'score': 0.21}]