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
ENST00000530985 [[125439111, 125439469], [125442353, 125442465], [125445158, 125445304], [125446150, 125446211], [125447399, 125447466], [125448028, 125448153], [125448844, 125448964], [125449988, 125450100], [125451106, 125451218], [125452241, 125452315], [125453415, 125454575]] None
ENST00000529812 [[125439175, 125439469], [125439999, 125440086], [125442353, 125442465]] [[125442423, 125442465]]
ENST00000278903 [[125439297, 125439469], [125442353, 125442465], [125445158, 125445304], [125446150, 125446211], [125447399, 125447466], [125448028, 125448153], [125448844, 125448964], [125449988, 125450100], [125451106, 125451218], [125452241, 125452299], [125452301, 125452315], [125453415, 125454574]] [[125442423, 125442465], [125445158, 125445304], [125446150, 125446211], [125447399, 125447466], [125448028, 125448153], [125448844, 125448964], [125449988, 125450100], [125451106, 125451218], [125452241, 125452299], [125452301, 125452315], [125453415, 125453578]]
ENST00000343678 [[125439297, 125439469], [125442353, 125442465], [125445158, 125445304], [125446150, 125446211], [125447399, 125447466], [125448028, 125448153], [125448844, 125448964], [125449988, 125450100], [125452241, 125452303], [125452305, 125452315], [125453415, 125454574]] [[125442423, 125442465], [125445158, 125445304], [125446150, 125446211], [125447399, 125447466], [125448028, 125448153], [125448844, 125448964], [125449988, 125450100], [125452241, 125452303], [125452305, 125452315], [125453415, 125453456]]
ENST00000534546 [[125439303, 125439469], [125442353, 125442465], [125445158, 125445304], [125446150, 125446211], [125447399, 125447466], [125448028, 125448153], [125448844, 125448964], [125449988, 125450094]] None
ENST00000531636 [[125439353, 125439469], [125442353, 125442465], [125445200, 125445304], [125446150, 125446211], [125447399, 125447466], [125448028, 125448058]] None
ENST00000524723 [[125439353, 125439469], [125442353, 125442465], [125445158, 125445304], [125445698, 125445827], [125446150, 125446211], [125447399, 125447466], [125448028, 125448153], [125448844, 125448925]] [[125442423, 125442465], [125445158, 125445304], [125445698, 125445827], [125446150, 125446211], [125447399, 125447466], [125448028, 125448153], [125448844, 125448925]]
ENST00000531350 [[125439353, 125439469], [125442353, 125442465], [125446150, 125446211], [125447399, 125447466], [125448028, 125448153], [125448844, 125448964], [125449988, 125450100], [125451106, 125451218], [125452241, 125452315], [125453415, 125453922]] None
ENST00000534430 [[125439353, 125439469], [125442353, 125442465], [125445200, 125445304], [125446150, 125446211], [125447399, 125447466], [125448028, 125448153], [125448844, 125448964], [125449988, 125450100], [125451106, 125451218], [125452241, 125452315], [125453415, 125453955]] None
ENST00000525737 [[125439353, 125439469], [125442353, 125442465], [125445146, 125445304], [125446150, 125446211], [125447399, 125447466], [125448028, 125448153], [125448844, 125448964], [125449988, 125450100], [125451106, 125451218], [125452241, 125452315], [125453415, 125454104]] None
ENST00000527628 [[125439353, 125439410], [125442353, 125442465], [125445158, 125445304], [125446150, 125446211], [125447399, 125447466], [125448028, 125448153], [125448844, 125448964], [125449988, 125450100], [125451106, 125451218], [125452241, 125452315], [125453415, 125454146]] None
ENST00000529765 [[125439372, 125439469], [125442353, 125442465], [125445158, 125445304], [125446150, 125446211], [125447399, 125447784]] None
ENST00000527842 [[125439372, 125439469], [125439999, 125440086], [125442353, 125442465], [125445158, 125445304], [125446150, 125446211], [125447399, 125447466], [125448028, 125448153], [125448844, 125448964]] [[125442423, 125442465], [125445158, 125445304], [125446150, 125446211], [125447399, 125447466], [125448028, 125448153], [125448844, 125448964]]
ENST00000535422 [[125439384, 125439469], [125442353, 125442465], [125445158, 125445304], [125446150, 125446211], [125447399, 125447466], [125448028, 125448153], [125448844, 125448964], [125449988, 125450100], [125452241, 125452315], [125453415, 125454137]] None
ENST00000527520 [[125439735, 125439843], [125442353, 125442465], [125445200, 125445304], [125446150, 125446211], [125447399, 125447466]] [[125442423, 125442465], [125445200, 125445304], [125446150, 125446211], [125447399, 125447466]]
ENST00000527131 [[125439754, 125439843], [125442353, 125442465], [125445158, 125445304], [125446150, 125446211], [125447399, 125447466], [125448028, 125448087]] [[125442423, 125442465], [125445158, 125445304], [125446150, 125446211], [125447399, 125447466], [125448028, 125448087]]
ENST00000527675 [[125442352, 125442465], [125445204, 125445304], [125446150, 125446211], [125447399, 125447466], [125447631, 125447802], [125448028, 125448153], [125448844, 125448964], [125449988, 125450100], [125451106, 125451218], [125452241, 125452315], [125453415, 125453658]] None
ENST00000527235 [[125442353, 125442465], [125445204, 125445304], [125446150, 125446211], [125447399, 125447466], [125447631, 125447760]] [[125442423, 125442465], [125445204, 125445288]]
ENST00000530540 [[125450675, 125451218], [125452241, 125452293]] None
NR_110769 [[125439282, 125439469], [125442353, 125442465], [125446150, 125446211], [125447399, 125447466], [125448028, 125448153], [125448844, 125448964], [125449988, 125450100], [125451106, 125451218], [125452241, 125452315], [125453415, 125454584]] None
NR_110770 [[125439282, 125439469], [125442353, 125442465], [125445204, 125445304], [125446150, 125446211], [125447399, 125447466], [125447631, 125447802], [125448028, 125448153], [125448844, 125448964], [125449988, 125450100], [125451106, 125451218], [125452241, 125452315], [125453415, 125454584]] None
NM_001290135 [[125439282, 125439469], [125442353, 125442465], [125445200, 125445304], [125446150, 125446211], [125447399, 125447466], [125448028, 125448153], [125448844, 125448964], [125449988, 125450100], [125451106, 125451218], [125452241, 125452301], [125452303, 125452315], [125453415, 125454584]] [[125442423, 125442465], [125445200, 125445304], [125446150, 125446211], [125447399, 125447466], [125448028, 125448153], [125448844, 125448964], [125449988, 125450100], [125451106, 125451218], [125452241, 125452301], [125452303, 125452315], [125453415, 125453578]]
NM_004879 [[125439282, 125439469], [125442353, 125442465], [125445158, 125445304], [125446150, 125446211], [125447399, 125447466], [125448028, 125448153], [125448844, 125448964], [125449988, 125450100], [125451106, 125451218], [125452241, 125452301], [125452303, 125452315], [125453415, 125454584]] [[125442423, 125442465], [125445158, 125445304], [125446150, 125446211], [125447399, 125447466], [125448028, 125448153], [125448844, 125448964], [125449988, 125450100], [125451106, 125451218], [125452241, 125452301], [125452303, 125452315], [125453415, 125453578]]
NM_001330419 [[125439282, 125439469], [125439999, 125440086], [125442353, 125442465], [125445158, 125445304], [125446150, 125446211], [125447399, 125447466], [125448028, 125448153], [125448844, 125448964], [125449988, 125450100], [125452241, 125452301], [125452303, 125452315], [125453415, 125454584]] [[125442423, 125442465], [125445158, 125445304], [125446150, 125446211], [125447399, 125447466], [125448028, 125448153], [125448844, 125448964], [125449988, 125450100], [125452241, 125452301], [125452303, 125452315], [125453415, 125453456]]
Promoter
Chrom Start End Description
chr11 125439278 125439294 CAGE_peak_3_at_EI24_5end
chr11 125439301 125439385 CAGE_peak_1_at_EI24_5end
chr11 125439386 125439406 CAGE_peak_2_at_EI24_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I125568 125568800 125571266 2.05 [{'connected_gene': 'EI24', 'score': 550.77}, {'connected_gene': 'FEZ1', 'score': 12.48}, {'connected_gene': 'DDX25', 'score': 8.5}, {'connected_gene': 'PUS3', 'score': 5.34}, {'connected_gene': 'RNU6-1156P', 'score': 0.77}, {'connected_gene': 'STT3A-AS1', 'score': 0.34}]
chr11 GH11I125463 125463147 125467495 0.59 [{'connected_gene': 'EI24', 'score': 10.41}, {'connected_gene': 'RNU6-1156P', 'score': 10.4}, {'connected_gene': 'GC11P125484', 'score': 0.37}, {'connected_gene': 'GC11P125442', 'score': 0.34}, {'connected_gene': 'FEZ1', 'score': 0.29}]
chr11 GH11I125490 125490883 125492107 0.31 [{'connected_gene': 'EI24', 'score': 11.11}, {'connected_gene': 'RNU6-1156P', 'score': 11.1}, {'connected_gene': 'CHEK1', 'score': 6.82}, {'connected_gene': 'LOC403312', 'score': 0.77}, {'connected_gene': 'FEZ1', 'score': 0.77}, {'connected_gene': 'GC11P125484', 'score': 0.44}]
chr11 GH11I125597 125597010 125597069 0.5 [{'connected_gene': 'STT3A', 'score': 550.44}, {'connected_gene': 'CHEK1', 'score': 12.08}, {'connected_gene': 'EI24', 'score': 11.43}, {'connected_gene': 'RNU6-1156P', 'score': 11.13}, {'connected_gene': 'STT3A-AS1', 'score': 0.77}]
chr11 GH11I125591 125591163 125594304 2.08 [{'connected_gene': 'STT3A', 'score': 562.43}, {'connected_gene': 'STT3A-AS1', 'score': 550.77}, {'connected_gene': 'HP11014', 'score': 38.61}, {'connected_gene': 'TMEM218', 'score': 22.92}, {'connected_gene': 'CHEK1', 'score': 22.75}, {'connected_gene': 'MSANTD2', 'score': 20.59}, {'connected_gene': 'ENSG00000254509', 'score': 14.18}, {'connected_gene': 'TIRAP', 'score': 12.38}, {'connected_gene': 'ENSG00000254694', 'score': 12.23}, {'connected_gene': 'EI24', 'score': 11.93}, {'connected_gene': 'CDON', 'score': 10.0}, {'connected_gene': 'DDX25', 'score': 7.52}, {'connected_gene': 'FEZ1', 'score': 5.59}, {'connected_gene': 'PUS3', 'score': 4.47}]
chr11 GH11I125474 125474903 125487755 0.59 [{'connected_gene': 'FEZ1', 'score': 11.55}, {'connected_gene': 'EI24', 'score': 10.55}, {'connected_gene': 'RNU6-1156P', 'score': 10.54}, {'connected_gene': 'DDX25', 'score': 8.01}, {'connected_gene': 'PUS3', 'score': 6.66}, {'connected_gene': 'CHEK1', 'score': 5.85}, {'connected_gene': 'PATE4', 'score': 4.74}, {'connected_gene': 'GC11P125484', 'score': 0.77}, {'connected_gene': 'GC11P125442', 'score': 0.26}]
chr11 GH11I125505 125505486 125506616 0.31 [{'connected_gene': 'FEZ1', 'score': 11.76}, {'connected_gene': 'EI24', 'score': 0.21}]
chr11 GH11I125509 125509007 125510164 0.49 [{'connected_gene': 'FEZ1', 'score': 6.93}, {'connected_gene': 'EI24', 'score': 0.22}]
chr11 GH11I125511 125511873 125517845 1.33 [{'connected_gene': 'CHEK1', 'score': 18.21}, {'connected_gene': 'FEZ1', 'score': 12.74}, {'connected_gene': 'EI24', 'score': 11.56}, {'connected_gene': 'RNU6-1156P', 'score': 11.0}, {'connected_gene': 'DDX25', 'score': 9.25}, {'connected_gene': 'SLC37A2', 'score': 4.6}]
chr11 GH11I125594 125594801 125595400 0.38 [{'connected_gene': 'RNU6-1156P', 'score': 11.93}, {'connected_gene': 'EI24', 'score': 11.9}, {'connected_gene': 'CHEK1', 'score': 11.86}, {'connected_gene': 'DDX25', 'score': 8.88}, {'connected_gene': 'FEZ1', 'score': 5.64}, {'connected_gene': 'STT3A-AS1', 'score': 0.77}, {'connected_gene': 'STT3A', 'score': 0.77}]
chr11 GH11I125941 125941235 125942696 0.69 [{'connected_gene': 'ENSG00000254790', 'score': 550.77}, {'connected_gene': 'EI24', 'score': 6.18}, {'connected_gene': 'CDON', 'score': 5.07}, {'connected_gene': 'VSIG10L2', 'score': 0.77}, {'connected_gene': 'DDX25', 'score': 0.28}]
chr11 GH11I125925 125925143 125925911 0.83 [{'connected_gene': 'GC11P125928', 'score': 550.77}, {'connected_gene': 'FAM118B', 'score': 10.6}, {'connected_gene': 'RPUSD4', 'score': 10.6}, {'connected_gene': 'ENSG00000254694', 'score': 10.6}, {'connected_gene': 'EI24', 'score': 6.26}, {'connected_gene': 'DDX25', 'score': 5.93}, {'connected_gene': 'LOC105369554', 'score': 0.39}, {'connected_gene': 'ENSG00000255027', 'score': 0.39}, {'connected_gene': 'PUS3', 'score': 0.34}]

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