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
ENST00000559935 [[48623207, 48623388], [48624464, 48624603], [48626613, 48626705], [48628242, 48628287], [48633485, 48633560], [48633655, 48633692]] [[48623363, 48623388], [48624464, 48624603], [48626613, 48626705], [48628242, 48628287], [48633485, 48633560], [48633655, 48633681]]
ENST00000559416 [[48623291, 48623388], [48624464, 48624603], [48626613, 48626705], [48628242, 48628287], [48633485, 48633560], [48633711, 48633782], [48634218, 48634334]] [[48623363, 48623388], [48624464, 48624603], [48626613, 48626705], [48628242, 48628287], [48633485, 48633560], [48633711, 48633782], [48634218, 48634275]]
ENST00000558813 [[48623601, 48623676], [48624464, 48624603], [48626613, 48626705], [48628242, 48628287], [48633485, 48633560], [48633711, 48633782], [48634218, 48634490]] [[48624517, 48624603], [48626613, 48626705], [48628242, 48628287], [48633485, 48633560], [48633711, 48633782], [48634218, 48634275]]
ENST00000331200 [[48623619, 48623992], [48624464, 48624603], [48626613, 48626705], [48628242, 48628287], [48633485, 48633560], [48633711, 48633782], [48634218, 48635570]] [[48623712, 48623992], [48624464, 48624603], [48626613, 48626705], [48628242, 48628287], [48633485, 48633560], [48633711, 48633782], [48634218, 48634275]]
ENST00000558472 [[48623652, 48623923], [48624464, 48624603], [48626613, 48626705], [48628242, 48628287], [48633485, 48633560], [48633711, 48633782], [48634218, 48634249]] [[48623712, 48623923], [48624464, 48624603], [48626613, 48626705], [48628242, 48628287], [48633485, 48633560], [48633711, 48633782], [48634218, 48634249]]
ENST00000558978 [[48623669, 48623992], [48624464, 48624603], [48626613, 48626705], [48628242, 48628287], [48633485, 48633560], [48633659, 48633782], [48634218, 48634592]] [[48623712, 48623992], [48624464, 48624603], [48626613, 48626705], [48628242, 48628287], [48633485, 48633560], [48633659, 48633709]]
ENST00000455976 [[48624299, 48624603], [48626613, 48626705], [48628242, 48628287], [48633485, 48633560], [48633711, 48633782], [48634218, 48635566]] [[48624448, 48624603], [48626613, 48626705], [48628242, 48628287], [48633485, 48633560], [48633711, 48633782], [48634218, 48634275]]
ENST00000559540 [[48624406, 48624603], [48626613, 48626705], [48628242, 48628287], [48633485, 48634592]] [[48624448, 48624603], [48626613, 48626705], [48628242, 48628287], [48633485, 48633625]]
ENST00000558367 [[48624602, 48624934], [48626613, 48626705], [48628242, 48628287], [48633485, 48633560], [48633711, 48633782], [48634218, 48634230]] [[48624908, 48624934], [48626613, 48626705], [48628242, 48628287], [48633485, 48633560], [48633711, 48633782], [48634218, 48634230]]
ENST00000561350 [[48626641, 48626705], [48628242, 48628287], [48632341, 48632433]] None
ENST00000559852 [[48633332, 48633560], [48633711, 48633782], [48634218, 48634259]] None
NM_001330286 [[48623291, 48623388], [48624464, 48624603], [48626613, 48626705], [48628242, 48628287], [48633485, 48633560], [48633711, 48633782], [48634218, 48635566]] [[48623363, 48623388], [48624464, 48624603], [48626613, 48626705], [48628242, 48628287], [48633485, 48633560], [48633711, 48633782], [48634218, 48634275]]
NM_001025249 [[48623620, 48623676], [48624464, 48624603], [48626613, 48626705], [48628242, 48628287], [48633485, 48633560], [48633711, 48633782], [48634218, 48635570]] [[48624517, 48624603], [48626613, 48626705], [48628242, 48628287], [48633485, 48633560], [48633711, 48633782], [48634218, 48634275]]
NM_001025248 [[48623620, 48623992], [48624464, 48624603], [48626613, 48626705], [48628242, 48628287], [48633485, 48633560], [48633711, 48633782], [48634218, 48635570]] [[48623712, 48623992], [48624464, 48624603], [48626613, 48626705], [48628242, 48628287], [48633485, 48633560], [48633711, 48633782], [48634218, 48634275]]
NM_001948 [[48624364, 48624603], [48626613, 48626705], [48628242, 48628287], [48633485, 48633560], [48633711, 48633782], [48634218, 48635570]] [[48624448, 48624603], [48626613, 48626705], [48628242, 48628287], [48633485, 48633560], [48633711, 48633782], [48634218, 48634275]]
Promoter
Chrom Start End Description
chr15 48623286 48623297 CAGE_peak_4_at_DUT_5end
chr15 48623317 48623356 CAGE_peak_3_at_DUT_5end
chr15 48623600 48623667 CAGE_peak_2_at_DUT_5end
chr15 48624350 48624425 CAGE_peak_1_at_DUT_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I049044 49044400 49047226 2.11 [{'connected_gene': 'SECISBP2L', 'score': 555.78}, {'connected_gene': 'DTWD1', 'score': 14.82}, {'connected_gene': 'CEP152', 'score': 12.14}, {'connected_gene': 'DUT', 'score': 10.71}, {'connected_gene': 'SHC4', 'score': 10.46}, {'connected_gene': 'ENSG00000259488', 'score': 10.39}, {'connected_gene': 'RN7SL577P', 'score': 0.77}]
chr15 GH15I049154 49154135 49157201 2.09 [{'connected_gene': 'COPS2', 'score': 574.11}, {'connected_gene': 'NDUFAF4P1', 'score': 550.77}, {'connected_gene': 'GALK2', 'score': 550.77}, {'connected_gene': 'DTWD1', 'score': 38.03}, {'connected_gene': 'DUT', 'score': 22.44}, {'connected_gene': 'ENSG00000259488', 'score': 13.69}, {'connected_gene': 'CEP152', 'score': 13.04}, {'connected_gene': 'FGF7', 'score': 10.96}, {'connected_gene': 'SECISBP2L', 'score': 10.74}, {'connected_gene': 'FAM227B', 'score': 5.64}]
chr15 GH15I048285 48285601 48286199 0.86 [{'connected_gene': 'SLC12A1', 'score': 43.56}, {'connected_gene': 'ENSG00000202542', 'score': 11.2}, {'connected_gene': 'DUT', 'score': 11.17}, {'connected_gene': 'PIR60543', 'score': 0.29}, {'connected_gene': 'GC15M048328', 'score': 0.28}]
chr15 GH15I048925 48925531 48926470 1.24 [{'connected_gene': 'SHC4', 'score': 29.72}, {'connected_gene': 'DUT', 'score': 12.44}, {'connected_gene': 'ENSG00000259656', 'score': 10.66}, {'connected_gene': 'GC15P048919', 'score': 0.44}, {'connected_gene': 'ENSG00000259602', 'score': 0.39}]
chr15 GH15I048693 48693236 48696996 1.28 [{'connected_gene': 'FBN1', 'score': 22.14}, {'connected_gene': 'SLC12A1', 'score': 4.21}, {'connected_gene': 'DUT', 'score': 4.17}, {'connected_gene': 'GC15M048674', 'score': 0.37}, {'connected_gene': 'LOC645405', 'score': 0.29}, {'connected_gene': 'GC15M048517', 'score': 0.25}, {'connected_gene': 'CEP152', 'score': 0.13}]
chr15 GH15I048330 48330123 48333878 2.05 [{'connected_gene': 'DUT', 'score': 556.06}, {'connected_gene': 'ENSG00000259488', 'score': 550.77}, {'connected_gene': 'SLC12A1', 'score': 57.92}, {'connected_gene': 'LOC105370807', 'score': 47.25}, {'connected_gene': 'CEP152', 'score': 10.56}, {'connected_gene': 'FBN1', 'score': 10.19}, {'connected_gene': 'GC15P048420', 'score': 0.17}]
chr15 GH15I047735 47735487 47738160 0.92 [{'connected_gene': 'DUT', 'score': 18.68}, {'connected_gene': 'ENSG00000259488', 'score': 13.83}, {'connected_gene': 'RPL7AP62', 'score': 0.44}, {'connected_gene': 'GC15P047767', 'score': 0.29}, {'connected_gene': 'SEMA6D', 'score': 0.03}]
chr15 GH15I048855 48855441 48856593 0.95 [{'connected_gene': 'DUT', 'score': 18.68}, {'connected_gene': 'ENSG00000259488', 'score': 13.83}, {'connected_gene': 'SHC4', 'score': 11.46}, {'connected_gene': 'EID1', 'score': 0.34}, {'connected_gene': 'CEP152', 'score': 0.26}]
chr15 GH15I048360 48360964 48361093 0.56 [{'connected_gene': 'DUT', 'score': 10.88}, {'connected_gene': 'ENSG00000202542', 'score': 10.86}, {'connected_gene': 'CEP152', 'score': 9.75}, {'connected_gene': 'ENSG00000259488', 'score': 0.31}, {'connected_gene': 'GC15P048420', 'score': 0.22}]
chr15 GH15I048570 48570042 48571504 0.49 [{'connected_gene': 'DUT', 'score': 18.72}, {'connected_gene': 'ENSG00000259488', 'score': 13.87}, {'connected_gene': 'FBN1', 'score': 10.51}, {'connected_gene': 'SHC4', 'score': 9.0}, {'connected_gene': 'GC15P048560', 'score': 0.39}, {'connected_gene': 'GC15P048611', 'score': 0.26}, {'connected_gene': 'GC15M048517', 'score': 0.09}]
chr15 GH15I048384 48384413 48386375 0.66 [{'connected_gene': 'LOC105370807', 'score': 19.37}, {'connected_gene': 'FBN1', 'score': 10.44}, {'connected_gene': 'DUT', 'score': 10.42}, {'connected_gene': 'GC15P048420', 'score': 0.28}, {'connected_gene': 'ENSG00000259488', 'score': 0.23}]
chr15 GH15I048313 48313323 48313514 0.3 [{'connected_gene': 'LOC105370807', 'score': 18.42}, {'connected_gene': 'DUT', 'score': 7.87}, {'connected_gene': 'ENSG00000202542', 'score': 0.39}, {'connected_gene': 'GC15M048328', 'score': 0.39}, {'connected_gene': 'ENSG00000259488', 'score': 0.37}, {'connected_gene': 'PIR60543', 'score': 0.22}]