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
ENST00000442123 [[53196897, 53196928], [53197176, 53197249], [53211569, 53211602], [53213143, 53213197], [53217400, 53217498], [53223268, 53223329], [53224036, 53224073], [53224460, 53224500], [53224591, 53224642], [53226399, 53226472], [53235557, 53235651], [53237750, 53241659]] [[53197192, 53197249], [53211569, 53211602], [53213143, 53213197], [53217400, 53217498], [53223268, 53223329], [53224036, 53224073], [53224460, 53224500], [53224591, 53224642], [53226399, 53226472], [53235557, 53235651], [53237750, 53237824]]
ENST00000354586 [[53196899, 53197249], [53211569, 53211602], [53213143, 53213197], [53217400, 53217498], [53223268, 53223329], [53224036, 53224073], [53224460, 53224500], [53224591, 53224642], [53226399, 53226472], [53235557, 53235651], [53237750, 53241716]] [[53197192, 53197249], [53211569, 53211602], [53213143, 53213197], [53217400, 53217498], [53223268, 53223329], [53224036, 53224073], [53224460, 53224500], [53224591, 53224642], [53226399, 53226472], [53235557, 53235651], [53237750, 53237824]]
ENST00000556861 [[53198311, 53198430], [53240333, 53241054]] None
NM_001130701 [[53196882, 53196928], [53197176, 53197249], [53211569, 53211602], [53213143, 53213197], [53217400, 53217498], [53223268, 53223329], [53224036, 53224073], [53224460, 53224500], [53224591, 53224642], [53226399, 53226472], [53235557, 53235651], [53237750, 53241707]] [[53197192, 53197249], [53211569, 53211602], [53213143, 53213197], [53217400, 53217498], [53223268, 53223329], [53224036, 53224073], [53224460, 53224500], [53224591, 53224642], [53226399, 53226472], [53235557, 53235651], [53237750, 53237824]]
NM_145251 [[53196882, 53197249], [53211569, 53211602], [53213143, 53213197], [53217400, 53217498], [53223268, 53223329], [53224036, 53224073], [53224460, 53224500], [53224591, 53224642], [53226399, 53226472], [53235557, 53235651], [53237750, 53241707]] [[53197192, 53197249], [53211569, 53211602], [53213143, 53213197], [53217400, 53217498], [53223268, 53223329], [53224036, 53224073], [53224460, 53224500], [53224591, 53224642], [53226399, 53226472], [53235557, 53235651], [53237750, 53237824]]
Promoter
Chrom Start End Description
chr14 53196872 53196959 CAGE_peak_1_at_STYX_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I052997 52997513 52999412 0.51 [{'connected_gene': 'STYX', 'score': 4.2}, {'connected_gene': 'NDUFB3P3', 'score': 0.39}, {'connected_gene': 'PIR46154', 'score': 0.26}]
chr14 GH14I052800 52800358 52803361 0.96 [{'connected_gene': 'STYX', 'score': 16.85}, {'connected_gene': 'PTGER2', 'score': 1.7}, {'connected_gene': 'LOC100288978', 'score': 0.77}, {'connected_gene': 'LOC105370500', 'score': 0.39}, {'connected_gene': 'ENSG00000258698', 'score': 0.37}]
chr14 GH14I052702 52702843 52704176 0.79 [{'connected_gene': 'STYX', 'score': 25.07}, {'connected_gene': 'PSMC6', 'score': 0.77}, {'connected_gene': 'ERO1A', 'score': 0.44}]
chr14 GH14I052740 52740645 52743999 0.69 [{'connected_gene': 'STYX', 'score': 24.42}, {'connected_gene': 'PSMC6', 'score': 11.34}, {'connected_gene': 'ERO1A', 'score': 10.99}, {'connected_gene': 'ENSG00000259049', 'score': 0.29}]
chr14 GH14I052922 52922583 52925235 1.07 [{'connected_gene': 'STYX', 'score': 5.44}, {'connected_gene': 'RTRAF', 'score': 5.01}, {'connected_gene': 'ENSG00000258985', 'score': 4.65}, {'connected_gene': 'FERMT2', 'score': 0.31}, {'connected_gene': 'GC14P052872', 'score': 0.23}, {'connected_gene': 'LOC105370500', 'score': 0.12}]
chr14 GH14I052699 52699544 52702179 0.98 [{'connected_gene': 'STYX', 'score': 29.47}, {'connected_gene': 'ERO1A', 'score': 5.93}, {'connected_gene': 'PSMC6', 'score': 0.44}]
chr14 GH14I052844 52844218 52845877 1.09 [{'connected_gene': 'STYX', 'score': 4.74}, {'connected_gene': 'FERMT2', 'score': 4.45}, {'connected_gene': 'GC14P052872', 'score': 0.31}, {'connected_gene': 'ENSG00000258698', 'score': 0.31}, {'connected_gene': 'LOC105370500', 'score': 0.23}]
chr14 GH14I052897 52897619 52900746 0.56 [{'connected_gene': 'STYX', 'score': 6.37}, {'connected_gene': 'GC14P052872', 'score': 0.31}, {'connected_gene': 'FERMT2', 'score': 0.23}, {'connected_gene': 'LOC105370500', 'score': 0.14}]
chr14 GH14I052848 52848304 52849414 0.31 [{'connected_gene': 'STYX', 'score': 5.68}, {'connected_gene': 'FERMT2', 'score': 4.5}, {'connected_gene': 'GC14P052872', 'score': 0.34}, {'connected_gene': 'ENSG00000258698', 'score': 0.31}, {'connected_gene': 'LOC105370500', 'score': 0.22}]
chr14 GH14I052852 52852591 52853786 1.28 [{'connected_gene': 'STYX', 'score': 4.64}, {'connected_gene': 'FERMT2', 'score': 4.46}, {'connected_gene': 'GC14P052872', 'score': 0.37}, {'connected_gene': 'ENSG00000258698', 'score': 0.29}, {'connected_gene': 'LOC105370500', 'score': 0.21}]
chr14 GH14I052930 52930194 52942026 0.72 [{'connected_gene': 'STYX', 'score': 5.91}, {'connected_gene': 'FERMT2', 'score': 0.37}, {'connected_gene': 'GC14P052872', 'score': 0.21}, {'connected_gene': 'LOC105370500', 'score': 0.11}]
chr14 GH14I052894 52894878 52895341 0.88 [{'connected_gene': 'STYX', 'score': 5.8}, {'connected_gene': 'GC14P052872', 'score': 0.34}, {'connected_gene': 'FERMT2', 'score': 0.22}, {'connected_gene': 'LOC105370500', 'score': 0.15}]
chr14 GH14I052953 52953977 52955526 1.09 [{'connected_gene': 'STYX', 'score': 4.22}, {'connected_gene': 'FERMT2', 'score': 0.77}, {'connected_gene': 'PIR46154', 'score': 0.77}]
chr14 GH14I052868 52868336 52869947 0.49 [{'connected_gene': 'STYX', 'score': 6.0}, {'connected_gene': 'GC14P052872', 'score': 0.77}, {'connected_gene': 'ENSG00000258698', 'score': 0.25}, {'connected_gene': 'LOC105370500', 'score': 0.18}, {'connected_gene': 'FERMT2', 'score': 0.18}]
chr14 GH14I052729 52729229 52731431 2.01 [{'connected_gene': 'STYX', 'score': 574.84}, {'connected_gene': 'LOC105370500', 'score': 9.98}, {'connected_gene': 'ENSG00000259049', 'score': 0.26}]
chr14 GH14I052733 52733963 52734112 0.38 [{'connected_gene': 'STYX', 'score': 0.77}, {'connected_gene': 'ENSG00000259049', 'score': 0.26}]
chr14 GH14I052789 52789600 52792953 2.04 [{'connected_gene': 'GNPNAT1', 'score': 550.77}, {'connected_gene': 'LOC105370500', 'score': 550.77}, {'connected_gene': 'STYX', 'score': 22.25}, {'connected_gene': 'GC14P052785', 'score': 0.44}, {'connected_gene': 'ENSG00000258698', 'score': 0.31}]
chr14 GH14I052904 52904437 52909443 1.02 [{'connected_gene': 'TXNDC16', 'score': 6.88}, {'connected_gene': 'STYX', 'score': 6.13}, {'connected_gene': 'LOC101927620', 'score': 4.17}, {'connected_gene': 'GC14P052872', 'score': 0.28}, {'connected_gene': 'FERMT2', 'score': 0.25}, {'connected_gene': 'LOC105370500', 'score': 0.13}]
chr14 GH14I052706 52706117 52708531 1.98 [{'connected_gene': 'PSMC6', 'score': 550.77}, {'connected_gene': 'STYX', 'score': 22.8}]
chr14 GH14I052693 52693623 52699109 1.92 [{'connected_gene': 'ERO1A', 'score': 576.63}, {'connected_gene': 'STYX', 'score': 16.54}, {'connected_gene': 'PSMC6', 'score': 0.39}]
chr14 GH14I052912 52912744 52913996 0.43 [{'connected_gene': 'ERO1A', 'score': 9.89}, {'connected_gene': 'STYX', 'score': 5.94}, {'connected_gene': 'RTRAF', 'score': 4.57}, {'connected_gene': 'FERMT2', 'score': 0.28}, {'connected_gene': 'GC14P052872', 'score': 0.26}, {'connected_gene': 'LOC105370500', 'score': 0.13}]
chr14 GH14I052917 52917225 52920952 1.44 [{'connected_gene': 'ERO1A', 'score': 9.89}, {'connected_gene': 'STYX', 'score': 5.64}, {'connected_gene': 'LOC101927620', 'score': 4.4}, {'connected_gene': 'DDHD1', 'score': 3.68}, {'connected_gene': 'FERMT2', 'score': 0.29}, {'connected_gene': 'GC14P052872', 'score': 0.25}, {'connected_gene': 'LOC105370500', 'score': 0.13}]
chr14 GH14I052948 52948955 52953114 2.39 [{'connected_gene': 'FERMT2', 'score': 550.77}, {'connected_gene': 'STYX', 'score': 5.65}, {'connected_gene': 'GPR137C', 'score': 1.35}, {'connected_gene': 'GC14P052872', 'score': 0.18}]