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
ENST00000391858 [[231472849, 231474350], [231475514, 231475614], [231483542, 231483671], [231487049, 231488878]] [[231474129, 231474350], [231475514, 231475614], [231483542, 231483671], [231487049, 231487352]]
ENST00000295050 [[231473793, 231474350], [231475514, 231475614], [231483542, 231483671], [231487049, 231487317], [231488355, 231490769]] [[231474129, 231474350], [231475514, 231475614], [231483542, 231483671], [231487049, 231487317], [231488355, 231489107]]
ENST00000008440 [[231474001, 231474350], [231475514, 231475614], [231487049, 231488267]] [[231474129, 231474350], [231475514, 231475614], [231487049, 231487352]]
ENST00000492437 [[231474040, 231474350], [231475514, 231475807]] None
ENST00000366644 [[231475172, 231475223], [231475514, 231475614], [231480368, 231480460], [231483542, 231483671], [231487049, 231487317], [231488355, 231488510]] [[231480451, 231480460], [231483542, 231483671], [231487049, 231487317], [231488355, 231488510]]
ENST00000469904 [[231483422, 231483671], [231487049, 231487317], [231488355, 231488500]] None
NM_001261462 [[231473681, 231474350], [231475514, 231475614], [231487049, 231490775]] [[231474129, 231474350], [231475514, 231475614], [231487049, 231487352]]
NM_032018 [[231473681, 231474350], [231475514, 231475614], [231483542, 231483671], [231487049, 231487317], [231488355, 231490775]] [[231474129, 231474350], [231475514, 231475614], [231483542, 231483671], [231487049, 231487317], [231488355, 231489107]]
NM_001010984 [[231473681, 231474350], [231475514, 231475614], [231483542, 231483671], [231487049, 231490775]] [[231474129, 231474350], [231475514, 231475614], [231483542, 231483671], [231487049, 231487352]]
Promoter
Chrom Start End Description
chr1 231473743 231473807 CAGE_peak_2_at_C1orf124_5end
chr1 231473990 231474047 CAGE_peak_1_at_C1orf124_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I231486 231486808 231487583 0.57 [{'connected_gene': 'SPRTN', 'score': 5.58}, {'connected_gene': 'GC01M231493', 'score': 0.44}, {'connected_gene': 'SNRPD2P2', 'score': 0.39}]
chr1 GH01I231357 231357495 231358413 1.24 [{'connected_gene': 'SPRTN', 'score': 18.51}, {'connected_gene': 'EXOC8', 'score': 10.7}, {'connected_gene': 'DISC1', 'score': 10.38}, {'connected_gene': 'PIR59803', 'score': 0.44}]
chr1 GH01I231333 231333800 231341097 2.29 [{'connected_gene': 'SPRTN', 'score': 567.65}, {'connected_gene': 'EXOC8', 'score': 550.77}, {'connected_gene': 'PIR33664', 'score': 550.77}, {'connected_gene': 'C1orf131', 'score': 12.82}, {'connected_gene': 'LINC00582', 'score': 10.38}, {'connected_gene': 'EGLN1', 'score': 10.16}, {'connected_gene': 'DISC1', 'score': 10.04}, {'connected_gene': 'GC01P231312', 'score': 0.31}]
chr1 GH01I230976 230976824 230980430 2.31 [{'connected_gene': 'TTC13', 'score': 564.67}, {'connected_gene': 'ARV1', 'score': 560.28}, {'connected_gene': 'C1orf131', 'score': 12.59}, {'connected_gene': 'EXOC8', 'score': 6.17}, {'connected_gene': 'FAM89A', 'score': 5.84}, {'connected_gene': 'LOC101927604', 'score': 4.32}, {'connected_gene': 'SPRTN', 'score': 2.76}, {'connected_gene': 'GC01P230904', 'score': 0.19}]
chr1 GH01I231527 231527091 231531007 2.42 [{'connected_gene': 'TSNAX', 'score': 557.03}, {'connected_gene': 'TSNAX-DISC1', 'score': 550.77}, {'connected_gene': 'ENSG00000233461', 'score': 550.77}, {'connected_gene': 'C1orf131', 'score': 15.79}, {'connected_gene': 'COG2', 'score': 10.83}, {'connected_gene': 'DISC1', 'score': 6.11}, {'connected_gene': 'GNPAT', 'score': 5.53}, {'connected_gene': 'EXOC8', 'score': 4.66}, {'connected_gene': 'SPRTN', 'score': 1.98}, {'connected_gene': 'GC01P231515', 'score': 0.39}, {'connected_gene': 'GC01P231590', 'score': 0.21}, {'connected_gene': 'GC01P231591', 'score': 0.21}]
chr1 GH01I231418 231418000 231423944 2.32 [{'connected_gene': 'EGLN1', 'score': 561.46}, {'connected_gene': 'SPRTN', 'score': 15.88}, {'connected_gene': 'COG2', 'score': 13.14}, {'connected_gene': 'C1orf131', 'score': 12.76}, {'connected_gene': 'PIR59803', 'score': 0.22}]
chr1 GH01I231393 231393211 231397206 1.34 [{'connected_gene': 'EGLN1', 'score': 20.43}, {'connected_gene': 'SPRTN', 'score': 18.67}, {'connected_gene': 'C1orf131', 'score': 15.83}, {'connected_gene': 'COG2', 'score': 10.84}, {'connected_gene': 'EXOC8', 'score': 10.4}, {'connected_gene': 'GNPAT', 'score': 4.84}, {'connected_gene': 'PIR59803', 'score': 0.31}]
chr1 GH01I231392 231392801 231393000 0.66 [{'connected_gene': 'EGLN1', 'score': 12.29}, {'connected_gene': 'SPRTN', 'score': 7.86}, {'connected_gene': 'PIR59803', 'score': 0.31}]
chr1 GH01I231407 231407116 231409023 1.19 [{'connected_gene': 'EGLN1', 'score': 11.04}, {'connected_gene': 'SPRTN', 'score': 7.22}, {'connected_gene': 'PIR59803', 'score': 0.26}]
chr1 GH01I231376 231376801 231377000 0.72 [{'connected_gene': 'EGLN1', 'score': 10.8}, {'connected_gene': 'TRIM67', 'score': 10.52}, {'connected_gene': 'LINC00582', 'score': 9.77}, {'connected_gene': 'DISC1', 'score': 9.58}, {'connected_gene': 'SPRTN', 'score': 7.92}, {'connected_gene': 'PIR59803', 'score': 0.39}]
chr1 GH01I231370 231370445 231370823 0.2 [{'connected_gene': 'EGLN1', 'score': 11.67}, {'connected_gene': 'LINC00582', 'score': 10.45}, {'connected_gene': 'SPRTN', 'score': 7.93}, {'connected_gene': 'PIR59803', 'score': 0.44}]
chr1 GH01I231351 231351223 231352878 0.51 [{'connected_gene': 'EGLN1', 'score': 19.67}, {'connected_gene': 'LINC00582', 'score': 10.63}, {'connected_gene': 'DISC1', 'score': 10.3}, {'connected_gene': 'SPRTN', 'score': 9.06}, {'connected_gene': 'PIR59803', 'score': 0.39}, {'connected_gene': 'EXOC8', 'score': 0.39}, {'connected_gene': 'GC01P231312', 'score': 0.28}]
chr1 GH01I231384 231384908 231385822 0.7 [{'connected_gene': 'EGLN1', 'score': 12.2}, {'connected_gene': 'LINC00582', 'score': 10.15}, {'connected_gene': 'DISC1', 'score': 9.88}, {'connected_gene': 'SPRTN', 'score': 8.07}, {'connected_gene': 'PIR59803', 'score': 0.37}]
chr1 GH01I231387 231387669 231389000 1.16 [{'connected_gene': 'EGLN1', 'score': 12.2}, {'connected_gene': 'LINC00582', 'score': 10.15}, {'connected_gene': 'DISC1', 'score': 9.88}, {'connected_gene': 'SPRTN', 'score': 8.52}, {'connected_gene': 'PIR59803', 'score': 0.34}]
chr1 GH01I231037 231037484 231041518 2.04 [{'connected_gene': 'FAM89A', 'score': 560.61}, {'connected_gene': 'C1orf131', 'score': 62.98}, {'connected_gene': 'COG2', 'score': 18.64}, {'connected_gene': 'ARV1', 'score': 10.98}, {'connected_gene': 'SPRTN', 'score': 10.81}, {'connected_gene': 'LOC644006', 'score': 5.6}]
chr1 GH01I231625 231625939 231629214 2.04 [{'connected_gene': 'DISC1', 'score': 569.02}, {'connected_gene': 'C1orf131', 'score': 36.11}, {'connected_gene': 'SPRTN', 'score': 11.81}, {'connected_gene': 'ARV1', 'score': 10.8}, {'connected_gene': 'COG2', 'score': 9.77}, {'connected_gene': 'RNU5A-5P', 'score': 0.26}, {'connected_gene': 'TSNAX-DISC1', 'score': 0.15}]
chr1 GH01I231359 231359235 231359364 0.46 [{'connected_gene': 'EXOC8', 'score': 10.7}, {'connected_gene': 'SPRTN', 'score': 10.7}, {'connected_gene': 'DISC1', 'score': 10.38}, {'connected_gene': 'PIR59803', 'score': 0.44}]
chr1 GH01I231389 231389431 231391713 0.92 [{'connected_gene': 'C1orf131', 'score': 14.37}, {'connected_gene': 'EGLN1', 'score': 12.29}, {'connected_gene': 'COG2', 'score': 10.49}, {'connected_gene': 'SPRTN', 'score': 7.87}, {'connected_gene': 'PIR59803', 'score': 0.31}]
chr1 GH01I231603 231603551 231604764 1.08 [{'connected_gene': 'C1orf131', 'score': 25.93}, {'connected_gene': 'DISC1', 'score': 17.38}, {'connected_gene': 'EGLN1', 'score': 10.3}, {'connected_gene': 'COG2', 'score': 9.83}, {'connected_gene': 'GNPAT', 'score': 9.79}, {'connected_gene': 'SPRTN', 'score': 4.86}, {'connected_gene': 'LINC00582', 'score': 0.44}, {'connected_gene': 'GC01P231590', 'score': 0.39}, {'connected_gene': 'GC01P231591', 'score': 0.39}, {'connected_gene': 'TSNAX-DISC1', 'score': 0.18}]
chr1 GH01I231210 231210955 231212917 1.44 [{'connected_gene': 'C1orf131', 'score': 31.44}, {'connected_gene': 'COG2', 'score': 21.34}, {'connected_gene': 'GNPAT', 'score': 16.79}, {'connected_gene': 'FAM89A', 'score': 10.8}, {'connected_gene': 'LOC644006', 'score': 10.8}, {'connected_gene': 'MIR1182', 'score': 10.8}, {'connected_gene': 'LOC101927604', 'score': 10.36}, {'connected_gene': 'C1orf198', 'score': 10.35}, {'connected_gene': 'SPRTN', 'score': 1.39}, {'connected_gene': 'LOC149373', 'score': 0.34}, {'connected_gene': 'TRIM67', 'score': 0.25}]
chr1 GH01I231366 231366118 231366680 0.2 [{'connected_gene': 'PIR59803', 'score': 550.77}, {'connected_gene': 'EGLN1', 'score': 11.66}, {'connected_gene': 'LINC00582', 'score': 10.45}, {'connected_gene': 'SPRTN', 'score': 7.33}]