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
ENST00000463670 [[156252725, 156252856], [156254974, 156255058], [156255315, 156255774], [156256050, 156256264], [156261175, 156262234]] None
ENST00000295694 [[156252738, 156252856], [156254974, 156255774], [156256050, 156256264], [156261175, 156262234]] [[156255017, 156255774], [156256050, 156256264], [156261175, 156261389]]
ENST00000357501 [[156252743, 156252856], [156254974, 156255058], [156256050, 156256264], [156261175, 156261739]] [[156255017, 156255058], [156256050, 156256264], [156261175, 156261448]]
ENST00000405535 [[156254069, 156254197], [156254974, 156255774], [156256050, 156256264], [156261175, 156262234]] [[156255017, 156255774], [156256050, 156256264], [156261175, 156261389]]
ENST00000495881 [[156254104, 156254197], [156254974, 156256264], [156261175, 156262234]] None
ENST00000456810 [[156254112, 156254197], [156254974, 156255058], [156256050, 156256264], [156261175, 156261316]] [[156255017, 156255058], [156256050, 156256264], [156261175, 156261316]]
ENST00000485135 [[156256066, 156256264], [156261175, 156261493], [156262517, 156262976]] None
NR_026678 [[156252703, 156252856], [156254974, 156255774], [156256050, 156256264], [156261175, 156262234]] None
NM_032323 [[156254069, 156254197], [156254974, 156255774], [156256050, 156256264], [156261175, 156262234]] [[156255017, 156255774], [156256050, 156256264], [156261175, 156261389]]
Promoter
Chrom Start End Description
chr1 156252708 156252734 CAGE_peak_1_at_TMEM79_5end
chr1 156254091 156254143 CAGE_peak_2_at_TMEM79_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I156290 156290888 156292947 1.6 [{'connected_gene': 'PAQR6', 'score': 32.84}, {'connected_gene': 'GLMP', 'score': 27.45}, {'connected_gene': 'BGLAP', 'score': 11.29}, {'connected_gene': 'TSACC', 'score': 10.84}, {'connected_gene': 'CCT3', 'score': 10.77}, {'connected_gene': 'MIR9-1', 'score': 9.68}, {'connected_gene': 'C1orf61', 'score': 9.67}, {'connected_gene': 'LAMTOR2', 'score': 9.59}, {'connected_gene': 'UBQLN4', 'score': 9.59}, {'connected_gene': 'KHDC4', 'score': 9.34}, {'connected_gene': 'RXFP4', 'score': 9.34}, {'connected_gene': 'TMEM79', 'score': 0.44}]
chr1 GH01I156281 156281041 156285474 2.61 [{'connected_gene': 'SMG5', 'score': 573.55}, {'connected_gene': 'TMEM79', 'score': 550.77}, {'connected_gene': 'GLMP', 'score': 27.07}, {'connected_gene': 'KHDC4', 'score': 22.27}, {'connected_gene': 'GON4L', 'score': 18.93}, {'connected_gene': 'RRNAD1', 'score': 12.85}, {'connected_gene': 'YY1AP1', 'score': 12.57}, {'connected_gene': 'SLC25A44', 'score': 12.47}, {'connected_gene': 'PAQR6', 'score': 11.81}, {'connected_gene': 'BGLAP', 'score': 11.78}, {'connected_gene': 'ENSG00000271267', 'score': 11.4}, {'connected_gene': 'ENSG00000252236', 'score': 11.1}, {'connected_gene': 'SEMA4A', 'score': 10.86}, {'connected_gene': 'PRCC', 'score': 10.86}, {'connected_gene': 'TSACC', 'score': 10.82}, {'connected_gene': 'CCT3', 'score': 10.77}, {'connected_gene': 'LAMTOR2', 'score': 10.64}, {'connected_gene': 'UBQLN4', 'score': 10.64}, {'connected_gene': 'LOC246784', 'score': 10.51}, {'connected_gene': 'MIR9-1', 'score': 10.1}, {'connected_gene': 'C1orf61', 'score': 10.09}, {'connected_gene': 'RUSC1-AS1', 'score': 10.04}, {'connected_gene': 'RXFP4', 'score': 9.33}, {'connected_gene': 'LMNA', 'score': 1.86}, {'connected_gene': 'ARHGEF2', 'score': 1.82}, {'connected_gene': 'RIT1', 'score': 1.62}]
chr1 GH01I156689 156689001 156694998 1.69 [{'connected_gene': 'ENSG00000237588', 'score': 550.77}, {'connected_gene': 'KHDC4', 'score': 52.09}, {'connected_gene': 'RRNAD1', 'score': 51.4}, {'connected_gene': 'GON4L', 'score': 47.23}, {'connected_gene': 'MSTO2P', 'score': 26.92}, {'connected_gene': 'LOC246784', 'score': 18.67}, {'connected_gene': 'CCT3', 'score': 16.35}, {'connected_gene': 'LOC105371453', 'score': 12.47}, {'connected_gene': 'BCAN', 'score': 12.41}, {'connected_gene': 'ISG20L2', 'score': 11.17}, {'connected_gene': 'PMF1', 'score': 11.04}, {'connected_gene': 'HDGF', 'score': 10.68}, {'connected_gene': 'SSR2', 'score': 10.43}, {'connected_gene': 'PRCC', 'score': 10.31}, {'connected_gene': 'GLMP', 'score': 10.17}, {'connected_gene': 'NAXE', 'score': 9.66}, {'connected_gene': 'CRABP2', 'score': 9.35}, {'connected_gene': 'SLC25A44', 'score': 4.74}, {'connected_gene': 'SMG5', 'score': 4.57}, {'connected_gene': 'TMEM79', 'score': 1.4}]