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
ENST00000377376 [[9648931, 9649101], [9655947, 9656068], [9656916, 9657111], [9658506, 9658683], [9661162, 9661512], [9662126, 9662330], [9667614, 9667847], [9670563, 9670863], [9671810, 9671948], [9673043, 9674935]] [[9648988, 9649101], [9655947, 9656068], [9656916, 9657111], [9658506, 9658683], [9661162, 9661512], [9662126, 9662330], [9667614, 9667847], [9670563, 9670863], [9671810, 9671948], [9673043, 9673141]]
ENST00000340305 [[9648979, 9649101], [9655947, 9656068], [9656916, 9657111], [9658506, 9658683], [9661162, 9661512], [9662126, 9665012]] [[9648988, 9649101], [9655947, 9656068], [9656916, 9657111], [9658506, 9658683], [9661162, 9661512], [9662126, 9662349]]
ENST00000340381 [[9648979, 9649101], [9655947, 9656068], [9656916, 9657111], [9658506, 9658683], [9661162, 9661512], [9662126, 9662330], [9667614, 9667847], [9669897, 9669969], [9670563, 9670863], [9671810, 9671948], [9673043, 9674907]] [[9648988, 9649101], [9655947, 9656068], [9656916, 9657111], [9658506, 9658683], [9661162, 9661512], [9662126, 9662330], [9667614, 9667847], [9669897, 9669969], [9670563, 9670863], [9671810, 9671948], [9673043, 9673141]]
ENST00000416541 [[9656954, 9657111], [9658506, 9658683], [9661162, 9661512], [9662126, 9662330], [9667614, 9667847], [9670563, 9670863], [9671810, 9671948], [9673043, 9674931]] [[9656954, 9657111], [9658506, 9658683], [9661162, 9661512], [9662126, 9662330], [9667614, 9667847], [9670563, 9670863], [9671810, 9671948], [9673043, 9673141]]
ENST00000510900 [[9666271, 9666696], [9667614, 9667743]] None
ENST00000508400 [[9667785, 9667847], [9669897, 9669969], [9670563, 9670863], [9671072, 9671131], [9671810, 9671948], [9673043, 9673305]] [[9667785, 9667847], [9669897, 9669969], [9670563, 9670863], [9671072, 9671131], [9671810, 9671816]]
NM_001010866 [[9648931, 9649101], [9655947, 9656068], [9656916, 9657111], [9658506, 9658683], [9661162, 9661512], [9662126, 9665020]] [[9648988, 9649101], [9655947, 9656068], [9656916, 9657111], [9658506, 9658683], [9661162, 9661512], [9662126, 9662349]]
NM_001130924 [[9648931, 9649101], [9655947, 9656068], [9656916, 9657111], [9658506, 9658683], [9661162, 9661512], [9662126, 9662330], [9667614, 9667847], [9669897, 9669969], [9670563, 9670863], [9671810, 9671948], [9673043, 9674935]] [[9648988, 9649101], [9655947, 9656068], [9656916, 9657111], [9658506, 9658683], [9661162, 9661512], [9662126, 9662330], [9667614, 9667847], [9669897, 9669969], [9670563, 9670863], [9671810, 9671948], [9673043, 9673141]]
Promoter
Chrom Start End Description
chr1 9648775 9648817 CAGE_peak_3_at_TMEM201_5end
chr1 9648819 9648855 CAGE_peak_2_at_TMEM201_5end
chr1 9648921 9648982 CAGE_peak_1_at_TMEM201_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I009537 9537173 9541691 2.09 [{'connected_gene': 'SLC25A33', 'score': 550.77}, {'connected_gene': 'TMEM201', 'score': 6.31}, {'connected_gene': 'ENSG00000235263', 'score': 0.28}]
chr1 GH01I009625 9625746 9631800 1.78 [{'connected_gene': 'PIK3CD', 'score': 567.21}, {'connected_gene': 'LOC105376712', 'score': 550.77}, {'connected_gene': 'SLC25A33', 'score': 11.31}, {'connected_gene': 'TMEM201', 'score': 5.88}]
chr1 GH01I009555 9555297 9556193 0.75 [{'connected_gene': 'TMEM201', 'score': 11.88}, {'connected_gene': 'SLC25A33', 'score': 0.37}, {'connected_gene': 'RPL9P11', 'score': 0.34}]
chr1 GH01I009304 9304736 9307068 0.31 [{'connected_gene': 'TMEM201', 'score': 5.57}, {'connected_gene': 'SPSB1', 'score': 0.39}, {'connected_gene': 'ENSG00000284652', 'score': 0.13}]
chr1 GH01I009591 9591401 9592113 0.77 [{'connected_gene': 'TMEM201', 'score': 5.02}, {'connected_gene': 'LOC105376712', 'score': 0.28}]
chr1 GH01I009592 9592132 9595802 1.09 [{'connected_gene': 'TMEM201', 'score': 5.29}, {'connected_gene': 'LOC105376712', 'score': 0.28}]
chr1 GH01I009588 9588200 9590633 1.9 [{'connected_gene': 'TMEM201', 'score': 550.77}, {'connected_gene': 'LOC105376712', 'score': 0.26}]
chr1 GH01I009561 9561063 9562236 1.03 [{'connected_gene': 'DFFA', 'score': 12.35}, {'connected_gene': 'LINC01759', 'score': 10.98}, {'connected_gene': 'GPR157', 'score': 10.05}, {'connected_gene': 'TMEM201', 'score': 5.35}, {'connected_gene': 'RPL9P11', 'score': 0.39}, {'connected_gene': 'SLC25A33', 'score': 0.34}]
chr1 GH01I009615 9615683 9615872 0.76 [{'connected_gene': 'LOC105376712', 'score': 0.39}, {'connected_gene': 'TMEM201', 'score': 0.31}]

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