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
ENST00000375838 [[15853307, 15853453], [15855582, 15855767], [15860731, 15860798], [15862969, 15863309], [15870893, 15871078], [15873261, 15873366], [15874764, 15874923], [15886020, 15886151], [15888636, 15888820], [15890423, 15890606], [15890777, 15890854], [15892413, 15892494], [15892576, 15893090]] [[15855600, 15855767], [15860731, 15860798], [15862969, 15863309], [15870893, 15871078], [15873261, 15873366], [15874764, 15874923], [15886020, 15886151], [15888636, 15888820], [15890423, 15890606], [15890777, 15890854], [15892413, 15892494], [15892576, 15892685]]
ENST00000475133 [[15853307, 15853453], [15855582, 15855767], [15860731, 15860798], [15862969, 15863309], [15870893, 15871078], [15873261, 15873366], [15874764, 15874923], [15886020, 15886151], [15888636, 15888820], [15890423, 15890606], [15890777, 15890854], [15892413, 15892494], [15892576, 15892905], [15893593, 15893764], [15894272, 15898228]] [[15855600, 15855767], [15860731, 15860798], [15862969, 15863309], [15870893, 15871078], [15873261, 15873366], [15874764, 15874923], [15886020, 15886151], [15888636, 15888820], [15890423, 15890606], [15890777, 15890854], [15892413, 15892494], [15892576, 15892685]]
ENST00000375847 [[15853307, 15853453], [15855582, 15855767], [15860731, 15860798], [15862969, 15863309], [15870893, 15871078], [15873261, 15873366], [15874764, 15874923], [15886020, 15886151], [15888636, 15888820], [15890423, 15890606], [15890777, 15890854], [15892413, 15892494], [15892576, 15892675], [15893593, 15893764], [15894272, 15898228]] [[15855600, 15855767], [15860731, 15860798], [15862969, 15863309], [15870893, 15871078], [15873261, 15873366], [15874764, 15874923], [15886020, 15886151], [15888636, 15888820], [15890423, 15890606], [15890777, 15890854], [15892413, 15892494], [15892576, 15892675], [15893593, 15893764], [15894272, 15894672]]
ENST00000375849 [[15853307, 15853453], [15855582, 15855767], [15860731, 15860798], [15862969, 15863309], [15870893, 15871078], [15873261, 15873366], [15874764, 15874923], [15886020, 15886151], [15888636, 15888820], [15890423, 15890606], [15890777, 15890854], [15892413, 15892494], [15892576, 15892675], [15893593, 15893764], [15901254, 15902587]] [[15855600, 15855767], [15860731, 15860798], [15862969, 15863309], [15870893, 15871078], [15873261, 15873366], [15874764, 15874923], [15886020, 15886151], [15888636, 15888820], [15890423, 15890606], [15890777, 15890854], [15892413, 15892494], [15892576, 15892675], [15893593, 15893764], [15901254, 15901273]]
ENST00000483270 [[15886102, 15886151], [15886625, 15886824], [15888636, 15888820], [15890423, 15890606], [15890777, 15890854], [15891676, 15891948], [15892413, 15892494], [15892576, 15892905], [15893593, 15893764], [15894272, 15894730], [15895271, 15895466], [15901254, 15901644], [15901829, 15901967], [15918753, 15918874]] None
ENST00000472665 [[15890580, 15890606], [15890777, 15890854], [15892413, 15892494], [15892576, 15892794], [15893593, 15893636]] [[15890580, 15890606], [15890777, 15890854], [15892413, 15892494], [15892576, 15892685]]
ENST00000479655 [[15892312, 15892494], [15892576, 15892904]] None
ENST00000490811 [[15893540, 15893764], [15894272, 15894556]] None
ENST00000495523 [[15894653, 15894730], [15896147, 15896776]] None
NM_001287811 [[15853307, 15853453], [15860731, 15860798], [15862969, 15863309], [15870893, 15871078], [15873261, 15873366], [15874764, 15874923], [15886020, 15886151], [15888636, 15888820], [15890423, 15890606], [15890777, 15890854], [15892413, 15892494], [15892576, 15892675], [15893593, 15893764], [15894272, 15898228]] [[15874836, 15874923], [15886020, 15886151], [15888636, 15888820], [15890423, 15890606], [15890777, 15890854], [15892413, 15892494], [15892576, 15892675], [15893593, 15893764], [15894272, 15894672]]
NM_015291 [[15853307, 15853453], [15855582, 15855767], [15860731, 15860798], [15862969, 15863309], [15870893, 15871078], [15873261, 15873366], [15874764, 15874923], [15886020, 15886151], [15888636, 15888820], [15890423, 15890606], [15890777, 15890854], [15892413, 15892494], [15892576, 15892675], [15893593, 15893764], [15894272, 15898228]] [[15855600, 15855767], [15860731, 15860798], [15862969, 15863309], [15870893, 15871078], [15873261, 15873366], [15874764, 15874923], [15886020, 15886151], [15888636, 15888820], [15890423, 15890606], [15890777, 15890854], [15892413, 15892494], [15892576, 15892675], [15893593, 15893764], [15894272, 15894672]]
NR_109898 [[15853307, 15853453], [15855582, 15855767], [15860731, 15860798], [15862969, 15863309], [15870893, 15871078], [15873261, 15873366], [15874764, 15874923], [15886020, 15886151], [15888636, 15888820], [15890423, 15890606], [15890777, 15890854], [15892413, 15892494], [15892576, 15892905], [15893593, 15893764], [15894272, 15898228]] None
Promoter
Chrom Start End Description
chr1 15853325 15853413 CAGE_peak_1_at_DNAJC16_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I015522 15522346 15528292 2.32 [{'connected_gene': 'CASP9', 'score': 570.34}, {'connected_gene': 'DNAJC16', 'score': 550.77}, {'connected_gene': 'ENSG00000237938', 'score': 29.09}, {'connected_gene': 'SPEN', 'score': 21.15}, {'connected_gene': 'AGMAT', 'score': 21.1}, {'connected_gene': 'ZBTB17', 'score': 13.44}, {'connected_gene': 'RPL22P3', 'score': 11.96}, {'connected_gene': 'ARHGEF19', 'score': 11.93}, {'connected_gene': 'RPS16P1', 'score': 11.2}, {'connected_gene': 'GC01P015468', 'score': 0.22}]
chr1 GH01I015583 15583855 15585713 2.14 [{'connected_gene': 'AGMAT', 'score': 570.73}, {'connected_gene': 'CASP9', 'score': 14.93}, {'connected_gene': 'PIR62159', 'score': 0.37}, {'connected_gene': 'DNAJC16', 'score': 0.22}]
chr1 GH01I015558 15558266 15560505 0.69 [{'connected_gene': 'AGMAT', 'score': 9.45}, {'connected_gene': 'SLC25A34', 'score': 5.8}, {'connected_gene': 'PIR45878', 'score': 0.77}, {'connected_gene': 'GC01P015565', 'score': 0.77}, {'connected_gene': 'SCARNA21B', 'score': 0.37}, {'connected_gene': 'DNAJC16', 'score': 0.29}]
chr1 GH01I015571 15571654 15572455 0.49 [{'connected_gene': 'AGMAT', 'score': 10.25}, {'connected_gene': 'PIR62159', 'score': 0.77}, {'connected_gene': 'DNAJC16', 'score': 0.25}]
chr1 GH01I014994 14994887 14997942 1.37 [{'connected_gene': 'SPEN', 'score': 103.43}, {'connected_gene': 'ENSG00000237938', 'score': 61.58}, {'connected_gene': 'ZBTB17', 'score': 29.51}, {'connected_gene': 'RPS16P1', 'score': 20.84}, {'connected_gene': 'ENSG00000237301', 'score': 19.66}, {'connected_gene': 'TMEM51-AS1', 'score': 12.21}, {'connected_gene': 'DNAJC16', 'score': 10.09}, {'connected_gene': 'PIR50978', 'score': 0.77}, {'connected_gene': 'LOC105376758', 'score': 0.09}]
chr1 GH01I015573 15573404 15575771 0.84 [{'connected_gene': 'SPEN', 'score': 84.51}, {'connected_gene': 'ENSG00000237938', 'score': 51.83}, {'connected_gene': 'RPL22P3', 'score': 42.18}, {'connected_gene': 'FBXO42', 'score': 35.11}, {'connected_gene': 'RPS16P1', 'score': 20.88}, {'connected_gene': 'ZBTB17', 'score': 20.26}, {'connected_gene': 'CROCCP3', 'score': 14.91}, {'connected_gene': 'ENSG00000237301', 'score': 13.6}, {'connected_gene': 'LINC01772', 'score': 11.72}, {'connected_gene': 'SPATA21', 'score': 11.41}, {'connected_gene': 'DNAJC16', 'score': 10.31}, {'connected_gene': 'ARHGEF19', 'score': 10.04}, {'connected_gene': 'AGMAT', 'score': 9.85}, {'connected_gene': 'PIR62159', 'score': 0.44}]
chr1 GH01I015591 15591675 15593983 0.43 [{'connected_gene': 'PLEKHM2', 'score': 16.25}, {'connected_gene': 'SCARNA21B', 'score': 11.64}, {'connected_gene': 'AGMAT', 'score': 10.94}, {'connected_gene': 'FBLIM1', 'score': 10.63}, {'connected_gene': 'RSC1A1', 'score': 10.48}, {'connected_gene': 'SLC25A34', 'score': 10.37}, {'connected_gene': 'CASP9', 'score': 9.9}, {'connected_gene': 'TMEM82', 'score': 5.96}, {'connected_gene': 'ENSG00000237301', 'score': 0.39}, {'connected_gene': 'PIR41201', 'score': 0.39}, {'connected_gene': 'DNAJC16', 'score': 0.2}]
chr1 GH01I015543 15543286 15544335 1.19 [{'connected_gene': 'SCARNA21B', 'score': 550.77}, {'connected_gene': 'GC01P015544', 'score': 550.77}, {'connected_gene': 'AGMAT', 'score': 17.17}, {'connected_gene': 'ENSG00000237938', 'score': 9.85}, {'connected_gene': 'ZBTB17', 'score': 9.76}, {'connected_gene': 'PIR45878', 'score': 0.37}, {'connected_gene': 'GC01P015565', 'score': 0.37}, {'connected_gene': 'DNAJC16', 'score': 0.37}]
chr1 GH01I015578 15578458 15581386 0.92 [{'connected_gene': 'SCARNA21B', 'score': 11.76}, {'connected_gene': 'RNU7-179P', 'score': 11.48}, {'connected_gene': 'PLEKHM2', 'score': 11.25}, {'connected_gene': 'RSC1A1', 'score': 10.01}, {'connected_gene': 'AGMAT', 'score': 9.45}, {'connected_gene': 'PIR62159', 'score': 0.39}, {'connected_gene': 'DNAJC16', 'score': 0.23}]
chr1 GH01I015562 15562711 15562873 0.46 [{'connected_gene': 'PIR45878', 'score': 550.77}, {'connected_gene': 'PIR43250', 'score': 550.77}, {'connected_gene': 'GC01P015565', 'score': 550.77}, {'connected_gene': 'SCARNA21B', 'score': 12.94}, {'connected_gene': 'ENSG00000272510', 'score': 0.77}, {'connected_gene': 'DNAJC16', 'score': 0.28}]