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
ENST00000315368 [[25378834, 25378966], [25379039, 25379178], [25381995, 25382101], [25384882, 25385015], [25390121, 25390196], [25390338, 25390365], [25390459, 25390504], [25391757, 25391842], [25392532, 25392637], [25393959, 25394043], [25395426, 25395513], [25395931, 25395996], [25396292, 25396335], [25396450, 25396527], [25398285, 25398386], [25398469, 25398521], [25404592, 25404648], [25407194, 25407241], [25408450, 25408507], [25408818, 25408875], [25411319, 25411413], [25415266, 25415364], [25415945, 25416007], [25416087, 25416126], [25416220, 25416322], [25417087, 25417162], [25418046, 25418220], [25419237, 25419361], [25419776, 25420120]] [[25379049, 25379178], [25381995, 25382101], [25384882, 25385015], [25390121, 25390196], [25390338, 25390365], [25390459, 25390504], [25391757, 25391842], [25392532, 25392637], [25393959, 25394043], [25395426, 25395513], [25395931, 25395996], [25396292, 25396335], [25396450, 25396527], [25398285, 25398386], [25398469, 25398521], [25404592, 25404648], [25407194, 25407241], [25408450, 25408507], [25408818, 25408875], [25411319, 25411413], [25415266, 25415364], [25415945, 25416007], [25416087, 25416126], [25416220, 25416322], [25417087, 25417162], [25418046, 25418220], [25419237, 25419361], [25419776, 25420004]]
ENST00000510092 [[25378914, 25378966], [25379039, 25379178], [25381995, 25382101], [25384882, 25385015], [25390121, 25390196], [25390338, 25390365], [25390459, 25390504], [25391757, 25391842], [25392532, 25392637], [25393959, 25394043], [25395426, 25395513], [25395931, 25395996], [25396292, 25396335], [25396450, 25396527], [25398285, 25398386], [25398469, 25398521], [25404592, 25404648], [25407194, 25407244], [25408450, 25408507], [25408818, 25408875], [25411319, 25411413], [25415266, 25415364], [25415945, 25416007], [25416087, 25416126], [25416220, 25416322], [25417087, 25417162], [25418046, 25418220], [25419237, 25419361], [25419776, 25420111]] [[25379049, 25379178], [25381995, 25382101], [25384882, 25385015], [25390121, 25390196], [25390338, 25390365], [25390459, 25390504], [25391757, 25391842], [25392532, 25392637], [25393959, 25394043], [25395426, 25395513], [25395931, 25395996], [25396292, 25396335], [25396450, 25396527], [25398285, 25398386], [25398469, 25398521], [25404592, 25404648], [25407194, 25407244], [25408450, 25408507], [25408818, 25408875], [25411319, 25411413], [25415266, 25415364], [25415945, 25416007], [25416087, 25416126], [25416220, 25416322], [25417087, 25417162], [25418046, 25418220], [25419237, 25419361], [25419776, 25420004]]
ENST00000505080 [[25378936, 25378966], [25379039, 25379178], [25381995, 25382067], [25384882, 25385015], [25390121, 25390196], [25390338, 25390365], [25390459, 25390504], [25391757, 25391805]] [[25379049, 25379178], [25381995, 25382067], [25384882, 25384933]]
ENST00000505991 [[25378941, 25379178], [25381995, 25382101], [25384882, 25385015], [25390121, 25390196], [25390338, 25390365], [25390459, 25390476]] [[25379049, 25379178], [25381995, 25382101], [25384882, 25385015], [25390121, 25390196], [25390338, 25390365], [25390459, 25390476]]
ENST00000507809 [[25378978, 25379178], [25381995, 25382230]] None
ENST00000507925 [[25395482, 25395513], [25395931, 25395996], [25396292, 25396335], [25396450, 25397042]] None
ENST00000503805 [[25396379, 25396527], [25398285, 25398386], [25398469, 25398521], [25404592, 25404648], [25407194, 25407241], [25408450, 25408507], [25408818, 25408875], [25411319, 25411391]] None
ENST00000505842 [[25398340, 25398386], [25398469, 25398521], [25404592, 25404648], [25407194, 25407241], [25408450, 25408507], [25408818, 25408875], [25411319, 25411413], [25415266, 25415493]] None
ENST00000504256 [[25407222, 25407241], [25408450, 25408507], [25408818, 25408875], [25411319, 25411413], [25415266, 25416126], [25416220, 25416322], [25417087, 25419361], [25419776, 25420120]] None
ENST00000515848 [[25414539, 25416007], [25416087, 25416126], [25416220, 25416322], [25417087, 25417162], [25418046, 25418220], [25419237, 25419361], [25419776, 25419883]] None
ENST00000506973 [[25416773, 25418220], [25419237, 25420119]] None
NM_013367 [[25378847, 25378966], [25379039, 25379178], [25381995, 25382101], [25384882, 25385015], [25390121, 25390196], [25390338, 25390365], [25390459, 25390504], [25391757, 25391842], [25392532, 25392637], [25393959, 25394043], [25395426, 25395513], [25395931, 25395996], [25396292, 25396335], [25396450, 25396527], [25398285, 25398386], [25398469, 25398521], [25404592, 25404648], [25407194, 25407241], [25408450, 25408507], [25408818, 25408875], [25411319, 25411413], [25415266, 25415364], [25415945, 25416007], [25416087, 25416126], [25416220, 25416322], [25417087, 25417162], [25418046, 25418220], [25419237, 25419361], [25419776, 25420120]] [[25379049, 25379178], [25381995, 25382101], [25384882, 25385015], [25390121, 25390196], [25390338, 25390365], [25390459, 25390504], [25391757, 25391842], [25392532, 25392637], [25393959, 25394043], [25395426, 25395513], [25395931, 25395996], [25396292, 25396335], [25396450, 25396527], [25398285, 25398386], [25398469, 25398521], [25404592, 25404648], [25407194, 25407241], [25408450, 25408507], [25408818, 25408875], [25411319, 25411413], [25415266, 25415364], [25415945, 25416007], [25416087, 25416126], [25416220, 25416322], [25417087, 25417162], [25418046, 25418220], [25419237, 25419361], [25419776, 25420004]]
NM_001286756 [[25378847, 25378966], [25379039, 25379178], [25381995, 25382101], [25384882, 25385015], [25390121, 25390196], [25390338, 25390365], [25390459, 25390504], [25391757, 25391842], [25392532, 25392637], [25393959, 25394043], [25395426, 25395513], [25395931, 25395996], [25396292, 25396335], [25396450, 25396527], [25398285, 25398386], [25398469, 25398521], [25404592, 25404648], [25407194, 25407244], [25408450, 25408507], [25408818, 25408875], [25411319, 25411413], [25415266, 25415364], [25415945, 25416007], [25416087, 25416126], [25416220, 25416322], [25417087, 25417162], [25418046, 25418220], [25419237, 25419361], [25419776, 25420120]] [[25379049, 25379178], [25381995, 25382101], [25384882, 25385015], [25390121, 25390196], [25390338, 25390365], [25390459, 25390504], [25391757, 25391842], [25392532, 25392637], [25393959, 25394043], [25395426, 25395513], [25395931, 25395996], [25396292, 25396335], [25396450, 25396527], [25398285, 25398386], [25398469, 25398521], [25404592, 25404648], [25407194, 25407244], [25408450, 25408507], [25408818, 25408875], [25411319, 25411413], [25415266, 25415364], [25415945, 25416007], [25416087, 25416126], [25416220, 25416322], [25417087, 25417162], [25418046, 25418220], [25419237, 25419361], [25419776, 25420004]]
Promoter
Chrom Start End Description
chr4 25378826 25378906 CAGE_peak_1_at_ANAPC4_5end
chr4 25378912 25378948 CAGE_peak_2_at_ANAPC4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I025233 25233178 25236819 2.02 [{'connected_gene': 'PI4K2B', 'score': 556.02}, {'connected_gene': 'LOC105374535', 'score': 550.77}, {'connected_gene': 'ANAPC4', 'score': 34.46}, {'connected_gene': 'DHX15', 'score': 13.86}, {'connected_gene': 'ZCCHC4', 'score': 11.82}, {'connected_gene': 'PIR48003', 'score': 0.44}, {'connected_gene': 'ENSG00000281028', 'score': 0.19}]
chr4 GH04I025158 25158674 25162444 2.07 [{'connected_gene': 'SEPSECS', 'score': 550.77}, {'connected_gene': 'ENSG00000281028', 'score': 550.77}, {'connected_gene': 'SEPSECS-AS1', 'score': 550.77}, {'connected_gene': 'ANAPC4', 'score': 34.59}, {'connected_gene': 'PI4K2B', 'score': 17.55}, {'connected_gene': 'DHX15', 'score': 11.26}, {'connected_gene': 'PIR60918', 'score': 0.28}]
chr4 GH04I025912 25912800 25915757 2.07 [{'connected_gene': 'SMIM20', 'score': 585.07}, {'connected_gene': 'LOC105374538', 'score': 550.77}, {'connected_gene': 'SEL1L3', 'score': 16.82}, {'connected_gene': 'ANAPC4', 'score': 14.43}, {'connected_gene': 'ZCCHC4', 'score': 13.41}, {'connected_gene': 'SEPSECS', 'score': 11.73}, {'connected_gene': 'PIR49686', 'score': 0.44}]
chr4 GH04I025132 25132337 25134007 0.49 [{'connected_gene': 'ANAPC4', 'score': 14.12}, {'connected_gene': 'CCDC149', 'score': 10.26}, {'connected_gene': 'PI4K2B', 'score': 5.23}, {'connected_gene': 'PIR60918', 'score': 0.39}, {'connected_gene': 'SEPSECS', 'score': 0.31}]
chr4 GH04I025153 25153406 25156410 0.79 [{'connected_gene': 'ANAPC4', 'score': 29.43}, {'connected_gene': 'CCDC149', 'score': 9.96}, {'connected_gene': 'PI4K2B', 'score': 9.31}, {'connected_gene': 'SEPSECS', 'score': 0.44}, {'connected_gene': 'PIR60918', 'score': 0.29}]
chr4 GH04I025133 25132039 25132208 0.2 [{'connected_gene': 'ANAPC4', 'score': 22.49}, {'connected_gene': 'CCDC149', 'score': 10.26}, {'connected_gene': 'PIR60918', 'score': 0.39}, {'connected_gene': 'SEPSECS', 'score': 0.31}]
chr4 GH04I024799 24799203 24801208 0.46 [{'connected_gene': 'ANAPC4', 'score': 11.92}, {'connected_gene': 'SOD3', 'score': 7.02}, {'connected_gene': 'LOC105374533', 'score': 0.77}]
chr4 GH04I025331 25331001 25332190 0.51 [{'connected_gene': 'ANAPC4', 'score': 10.86}, {'connected_gene': 'PI4K2B', 'score': 4.85}, {'connected_gene': 'ZCCHC4', 'score': 0.37}, {'connected_gene': 'PIR58322', 'score': 0.31}]
chr4 GH04I025178 25178246 25179444 0.84 [{'connected_gene': 'ANAPC4', 'score': 23.99}, {'connected_gene': 'PI4K2B', 'score': 7.85}, {'connected_gene': 'ENSG00000281028', 'score': 0.37}, {'connected_gene': 'SEPSECS-AS1', 'score': 0.37}, {'connected_gene': 'PIR43049', 'score': 0.26}]
chr4 GH04I025240 25240601 25241264 0.92 [{'connected_gene': 'ANAPC4', 'score': 8.8}, {'connected_gene': 'PIR48003', 'score': 0.77}, {'connected_gene': 'PI4K2B', 'score': 0.44}, {'connected_gene': 'ENSG00000281028', 'score': 0.18}]
chr4 GH04I025908 25908115 25909081 0.93 [{'connected_gene': 'ANAPC4', 'score': 32.01}, {'connected_gene': 'SMIM20', 'score': 25.98}, {'connected_gene': 'ZCCHC4', 'score': 22.89}, {'connected_gene': 'SEL1L3', 'score': 11.33}, {'connected_gene': 'STIM2', 'score': 9.96}, {'connected_gene': 'LOC105374538', 'score': 0.44}, {'connected_gene': 'GC04M025896', 'score': 0.39}]
chr4 GH04I025171 25171891 25175017 0.97 [{'connected_gene': 'ANAPC4', 'score': 34.5}, {'connected_gene': 'ZCCHC4', 'score': 11.69}, {'connected_gene': 'PI4K2B', 'score': 7.88}, {'connected_gene': 'ENSG00000281028', 'score': 0.39}, {'connected_gene': 'SEPSECS-AS1', 'score': 0.39}, {'connected_gene': 'PIR43049', 'score': 0.25}]
chr4 GH04I026260 26260565 26263248 0.69 [{'connected_gene': 'ANAPC4', 'score': 21.3}, {'connected_gene': 'ZCCHC4', 'score': 18.01}, {'connected_gene': 'GC04P026244', 'score': 0.37}, {'connected_gene': 'LOC105374542', 'score': 0.28}, {'connected_gene': 'RBPJ', 'score': 0.15}]
chr4 GH04I026263 26263299 26263448 0.71 [{'connected_gene': 'ANAPC4', 'score': 21.29}, {'connected_gene': 'ZCCHC4', 'score': 18.01}, {'connected_gene': 'GC04P026244', 'score': 0.37}, {'connected_gene': 'LOC105374542', 'score': 0.28}, {'connected_gene': 'RBPJ', 'score': 0.15}]
chr4 GH04I025299 25299282 25300635 0.65 [{'connected_gene': 'ANAPC4', 'score': 44.34}, {'connected_gene': 'ZCCHC4', 'score': 0.39}, {'connected_gene': 'GC04P025283', 'score': 0.37}]
chr4 GH04I025320 25320373 25321839 0.74 [{'connected_gene': 'ANAPC4', 'score': 48.46}, {'connected_gene': 'ZCCHC4', 'score': 0.44}, {'connected_gene': 'PIR58322', 'score': 0.28}]
chr4 GH04I025308 25308601 25308801 0.46 [{'connected_gene': 'ANAPC4', 'score': 38.54}, {'connected_gene': 'ZCCHC4', 'score': 0.77}, {'connected_gene': 'GC04P025283', 'score': 0.31}]
chr4 GH04I025309 25309841 25311535 0.84 [{'connected_gene': 'ANAPC4', 'score': 39.88}, {'connected_gene': 'ZCCHC4', 'score': 6.21}, {'connected_gene': 'GC04P025283', 'score': 0.31}]
chr4 GH04I025310 25309052 25309460 0.38 [{'connected_gene': 'ANAPC4', 'score': 16.97}, {'connected_gene': 'ZCCHC4', 'score': 0.77}, {'connected_gene': 'GC04P025283', 'score': 0.31}]
chr4 GH04I025107 25107187 25108093 0.6 [{'connected_gene': 'ANAPC4', 'score': 21.33}, {'connected_gene': 'DHX15', 'score': 18.32}, {'connected_gene': 'ZCCHC4', 'score': 18.06}, {'connected_gene': 'LGI2', 'score': 10.49}, {'connected_gene': 'SEPSECS', 'score': 10.38}, {'connected_gene': 'LOC105374534', 'score': 0.44}, {'connected_gene': 'GC04M025099', 'score': 0.44}, {'connected_gene': 'GC04M024941', 'score': 0.31}]
chr4 GH04I025401 25401139 25401288 0.62 [{'connected_gene': 'ANAPC4', 'score': 0.34}, {'connected_gene': 'LOC105374536', 'score': 0.34}]
chr4 GH04I025376 25376366 25378565 1.97 [{'connected_gene': 'ANAPC4', 'score': 594.11}, {'connected_gene': 'LOC105374536', 'score': 0.25}]
chr4 GH04I025439 25439959 25441058 0.88 [{'connected_gene': 'ANAPC4', 'score': 20.06}, {'connected_gene': 'GC04P025454', 'score': 0.39}, {'connected_gene': 'LOC105374536', 'score': 0.37}]
chr4 GH04I025422 25422401 25422800 0.46 [{'connected_gene': 'ANAPC4', 'score': 6.05}, {'connected_gene': 'LOC105374536', 'score': 0.77}]
chr4 GH04I025448 25448503 25449943 0.66 [{'connected_gene': 'ANAPC4', 'score': 15.67}, {'connected_gene': 'GC04P025454', 'score': 0.44}, {'connected_gene': 'LOC105374536', 'score': 0.34}]
chr4 GH04I025213 25213091 25214757 0.68 [{'connected_gene': 'ANAPC4', 'score': 14.29}, {'connected_gene': 'PIR43049', 'score': 0.44}, {'connected_gene': 'LOC105374535', 'score': 0.37}, {'connected_gene': 'ENSG00000281028', 'score': 0.23}]
chr4 GH04I026139 26139478 26143379 0.91 [{'connected_gene': 'ZCCHC4', 'score': 20.66}, {'connected_gene': 'ANAPC4', 'score': 15.11}, {'connected_gene': 'RBPJ', 'score': 12.11}, {'connected_gene': 'TBC1D19', 'score': 10.74}, {'connected_gene': 'LOC105374541', 'score': 0.37}, {'connected_gene': 'LOC645481', 'score': 0.31}]
chr4 GH04I025312 25312099 25314036 2.09 [{'connected_gene': 'ZCCHC4', 'score': 575.85}, {'connected_gene': 'ANAPC4', 'score': 64.31}, {'connected_gene': 'DHX15', 'score': 25.84}, {'connected_gene': 'PI4K2B', 'score': 4.63}, {'connected_gene': 'PIR58322', 'score': 0.26}]
chr4 GH04I025351 25351930 25352757 0.31 [{'connected_gene': 'ZCCHC4', 'score': 11.27}, {'connected_gene': 'ANAPC4', 'score': 11.22}, {'connected_gene': 'PIR58322', 'score': 0.44}]
chr4 GH04I025858 25858132 25866368 2.62 [{'connected_gene': 'SEL1L3', 'score': 554.01}, {'connected_gene': 'LOC102723733', 'score': 550.77}, {'connected_gene': 'SMIM20', 'score': 550.77}, {'connected_gene': 'RBPJ', 'score': 3.03}, {'connected_gene': 'ANAPC4', 'score': 2.2}, {'connected_gene': 'SLC34A2', 'score': 1.32}, {'connected_gene': 'ENSG00000251009', 'score': 0.44}]
chr4 GH04I024582 24582318 24585776 2.04 [{'connected_gene': 'DHX15', 'score': 564.6}, {'connected_gene': 'ANAPC4', 'score': 10.61}, {'connected_gene': 'RN7SL16P', 'score': 0.34}]
chr4 GH04I024469 24469592 24473800 1.46 [{'connected_gene': 'PPARGC1A', 'score': 550.77}, {'connected_gene': 'DHX15', 'score': 19.4}, {'connected_gene': 'ZCCHC4', 'score': 17.55}, {'connected_gene': 'ANAPC4', 'score': 14.85}, {'connected_gene': 'MIR573', 'score': 10.82}, {'connected_gene': 'LINC02473', 'score': 4.98}, {'connected_gene': 'GC04P024448', 'score': 0.34}]
chr4 GH04I024657 24657705 24660438 1.14 [{'connected_gene': 'LINC02473', 'score': 566.2}, {'connected_gene': 'ATP5MGP3', 'score': 550.77}, {'connected_gene': 'GC04M024658', 'score': 550.77}, {'connected_gene': 'ANAPC4', 'score': 25.99}, {'connected_gene': 'DHX15', 'score': 22.91}, {'connected_gene': 'ZCCHC4', 'score': 13.65}, {'connected_gene': 'LGI2', 'score': 9.69}]

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