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
ENST00000466387 [[79412356, 79412557], [79425084, 79425202], [79539834, 79539922], [79600956, 79601139], [79732179, 79732308], [79878677, 79878784], [79971512, 79971708], [80085138, 80085305], [80096941, 80097061], [80101201, 80101468], [80136719, 80136923], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80783018], [80801287, 80801439], [80808830, 80808944], [80816428, 80816610], [80831198, 80831304], [80835308, 80835443], [80874709, 80875904]] [[79878682, 79878784], [79971512, 79971708], [80085138, 80085305], [80096941, 80097061], [80101201, 80101468], [80136719, 80136923], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80783018], [80801287, 80801439], [80808830, 80808944], [80816428, 80816610], [80831198, 80831304], [80835308, 80835443], [80874709, 80874997]]
ENST00000496558 [[79740125, 79740333], [79878677, 79878784], [79971512, 79971708], [80085138, 80085305], [80096941, 80097061], [80101201, 80101468], [80136719, 80136923], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80783018], [80801287, 80801439], [80808830, 80808944], [80816428, 80816610], [80831198, 80831304], [80835308, 80835443], [80874709, 80875905]] [[79878682, 79878784], [79971512, 79971708], [80085138, 80085305], [80096941, 80097061], [80101201, 80101468], [80136719, 80136923], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80783018], [80801287, 80801439], [80808830, 80808944], [80816428, 80816610], [80831198, 80831304], [80835308, 80835443], [80874709, 80874997]]
ENST00000361291 [[79750338, 79750435], [79878677, 79878784], [79971512, 79971708], [80085138, 80085305], [80096941, 80097061], [80101201, 80101468], [80136719, 80136923], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80783018], [80801287, 80801439], [80808830, 80808944], [80816428, 80816610], [80831198, 80831304], [80835308, 80835443], [80874709, 80874997]] [[79750338, 79750435], [79878677, 79878784], [79971512, 79971708], [80085138, 80085305], [80096941, 80097061], [80101201, 80101468], [80136719, 80136923], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80783018], [80801287, 80801439], [80808830, 80808944], [80816428, 80816610], [80831198, 80831304], [80835308, 80835443], [80874709, 80874997]]
ENST00000402739 [[79878677, 79878784], [79971512, 79971708], [80085138, 80085305], [80096941, 80097061], [80101201, 80101468], [80136719, 80136923], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80783018], [80801287, 80801439], [80808830, 80808944], [80816428, 80816610], [80831198, 80831304], [80835308, 80835443], [80846209, 80846353], [80874709, 80875814]] [[79878682, 79878784], [79971512, 79971708], [80085138, 80085305], [80096941, 80097061], [80101201, 80101468], [80136719, 80136923], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80783018], [80801287, 80801439], [80808830, 80808944], [80816428, 80816610], [80831198, 80831304], [80835308, 80835443], [80846209, 80846353], [80874709, 80874997]]
ENST00000540488 [[79878682, 79878784], [79971512, 79971708], [80085138, 80085305], [80096941, 80097061], [80101201, 80101468], [80136719, 80136923], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80783018], [80801287, 80801439], [80808830, 80808944], [80816428, 80816610], [80831198, 80831304], [80874709, 80874997]] [[79878682, 79878784], [79971512, 79971708], [80085138, 80085305], [80096941, 80097061], [80101201, 80101468], [80136719, 80136923], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80783018], [80801287, 80801439], [80808830, 80808944], [80816428, 80816610], [80831198, 80831304], [80874709, 80874997]]
ENST00000541047 [[79878682, 79878784], [79971512, 79971708], [80085138, 80085305], [80096941, 80097061], [80101201, 80101468], [80136719, 80136923], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80783018], [80801287, 80801439], [80808830, 80808944], [80816428, 80816610], [80831198, 80831304], [80835308, 80835443], [80874709, 80875904]] [[79878682, 79878784], [79971512, 79971708], [80085138, 80085305], [80096941, 80097061], [80101201, 80101468], [80136719, 80136923], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80783018], [80801287, 80801439], [80808830, 80808944], [80816428, 80816610], [80831198, 80831304], [80835308, 80835443], [80874709, 80874997]]
ENST00000493024 [[80532242, 80532448], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773111]] None
ENST00000343114 [[80540503, 80540779], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80783018], [80801287, 80801439], [80808830, 80808944], [80816428, 80816610], [80831198, 80831304], [80835308, 80835443], [80874709, 80875905]] [[80540686, 80540779], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80783018], [80801287, 80801439], [80808830, 80808944], [80816428, 80816610], [80831198, 80831304], [80835308, 80835443], [80874709, 80874997]]
ENST00000409550 [[80555399, 80555474], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80782853]] [[80555423, 80555474], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80782853]]
ENST00000465616 [[80605811, 80605906], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773179]] None
ENST00000496251 [[79508589, 79508661], [79539834, 79539922], [79546837, 79546850], [79546935, 79547031], [79566740, 79566988], [79567073, 79567289]] None
ENST00000497804 [[79539835, 79539922], [79547098, 79547134], [79566740, 79566988], [79567073, 79567297]] None
ENST00000451966 [[79740159, 79740333], [79860823, 79860966], [79878677, 79878784], [79971512, 79971609]] [[79878682, 79878784], [79971512, 79971609]]
ENST00000409971 [[79741747, 79741817], [79751782, 79751896], [79878677, 79878784], [79971512, 79971708], [80085138, 80085192]] [[79878682, 79878784], [79971512, 79971708], [80085138, 80085192]]
ENST00000508970 [[79924971, 79925043], [79971512, 79971708], [80004111, 80004227]] None
ENST00000467488 [[79520101, 79520403], [79539834, 79539922], [79546837, 79547019]] None
ENST00000409266 [[79861666, 79861825], [79878677, 79878784], [79914689, 79914855]] [[79878682, 79878784], [79914689, 79914722]]
ENST00000467892 [[80816463, 80816610], [80831198, 80831304], [80835308, 80835614]] None
NM_001164883 [[79740059, 79740333], [79878677, 79878784], [79971512, 79971708], [80085138, 80085305], [80096941, 80097061], [80101201, 80101468], [80136719, 80136923], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80783018], [80801287, 80801439], [80808830, 80808944], [80816428, 80816610], [80831198, 80831304], [80874709, 80875993]] [[79878682, 79878784], [79971512, 79971708], [80085138, 80085305], [80096941, 80097061], [80101201, 80101468], [80136719, 80136923], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80783018], [80801287, 80801439], [80808830, 80808944], [80816428, 80816610], [80831198, 80831304], [80874709, 80874997]]
NM_004389 [[79740059, 79740333], [79878677, 79878784], [79971512, 79971708], [80085138, 80085305], [80096941, 80097061], [80101201, 80101468], [80136719, 80136923], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80783018], [80801287, 80801439], [80808830, 80808944], [80816428, 80816610], [80831198, 80831304], [80835308, 80835443], [80874709, 80875993]] [[79878682, 79878784], [79971512, 79971708], [80085138, 80085305], [80096941, 80097061], [80101201, 80101468], [80136719, 80136923], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80783018], [80801287, 80801439], [80808830, 80808944], [80816428, 80816610], [80831198, 80831304], [80835308, 80835443], [80874709, 80874997]]
NM_001282597 [[79740059, 79740333], [79878677, 79878784], [79971512, 79971708], [80085138, 80085305], [80096941, 80097061], [80101201, 80101468], [80136719, 80136923], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80783018], [80801287, 80801439], [80808830, 80808944], [80816428, 80816610], [80831198, 80831304], [80835308, 80835443], [80846209, 80846353], [80874709, 80875993]] [[79878682, 79878784], [79971512, 79971708], [80085138, 80085305], [80096941, 80097061], [80101201, 80101468], [80136719, 80136923], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80783018], [80801287, 80801439], [80808830, 80808944], [80816428, 80816610], [80831198, 80831304], [80835308, 80835443], [80846209, 80846353], [80874709, 80874997]]
NM_001282598 [[79750308, 79750435], [79878677, 79878784], [79971512, 79971708], [80085138, 80085305], [80096941, 80097061], [80101201, 80101468], [80136719, 80136923], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80783018], [80801287, 80801439], [80808830, 80808944], [80816428, 80816610], [80831198, 80831304], [80835308, 80835443], [80874709, 80875993]] [[79750338, 79750435], [79878677, 79878784], [79971512, 79971708], [80085138, 80085305], [80096941, 80097061], [80101201, 80101468], [80136719, 80136923], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80783018], [80801287, 80801439], [80808830, 80808944], [80816428, 80816610], [80831198, 80831304], [80835308, 80835443], [80874709, 80874997]]
NM_001282600 [[80532229, 80532448], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80783018], [80801287, 80801439], [80808830, 80808944], [80816428, 80816610], [80831198, 80831304], [80835308, 80835443], [80874709, 80875993]] [[80620383, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80783018], [80801287, 80801439], [80808830, 80808944], [80816428, 80816610], [80831198, 80831304], [80835308, 80835443], [80874709, 80874997]]
NM_001320810 [[80532229, 80532448], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80783018], [80801287, 80801439], [80808830, 80808944], [80816428, 80816610], [80831198, 80831304], [80835308, 80835443], [80846209, 80846353], [80874709, 80875993]] [[80620383, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80783018], [80801287, 80801439], [80808830, 80808944], [80816428, 80816610], [80831198, 80831304], [80835308, 80835443], [80846209, 80846353], [80874709, 80874997]]
NM_001282599 [[80540503, 80540779], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80783018], [80801287, 80801439], [80808830, 80808944], [80816428, 80816610], [80831198, 80831304], [80835308, 80835443], [80874709, 80875993]] [[80540686, 80540779], [80620335, 80620416], [80646573, 80646726], [80772106, 80772199], [80773031, 80773188], [80782817, 80783018], [80801287, 80801439], [80808830, 80808944], [80816428, 80816610], [80831198, 80831304], [80835308, 80835443], [80874709, 80874997]]
Promoter
Chrom Start End Description
chr2 79412496 79412517 CAGE_peak_4_at_CTNNA2_5end
chr2 79740034 79740086 CAGE_peak_2_at_CTNNA2_5end
chr2 79740118 79740210 CAGE_peak_1_at_CTNNA2_5end
chr2 80532231 80532259 CAGE_peak_6_at_CTNNA2_5end
chr2 80816155 80816168 CAGE_peak_9_at_CTNNA2_5end
chr2 80816392 80816439 CAGE_peak_3_at_CTNNA2_5end
chr2 80816460 80816502 CAGE_peak_5_at_CTNNA2_5end
chr2 80816509 80816521 CAGE_peak_7_at_CTNNA2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I079512 79512400 79513613 1.72 [{'connected_gene': 'CTNNA2', 'score': 559.66}, {'connected_gene': 'RNU6-561P', 'score': 9.73}, {'connected_gene': 'LOC101927987', 'score': 0.39}, {'connected_gene': 'ENSG00000277171', 'score': 0.28}]
chr2 GH02I079295 79295289 79295537 0.23 [{'connected_gene': 'CTNNA2', 'score': 1.37}, {'connected_gene': 'LOC105374823', 'score': 0.77}, {'connected_gene': 'GC02M079404', 'score': 0.13}, {'connected_gene': 'GC02P079100', 'score': 0.08}]
chr2 GH02I079579 79579876 79579935 0.5 [{'connected_gene': 'CTNNA2', 'score': 550.05}, {'connected_gene': 'LOC100422337', 'score': 0.77}, {'connected_gene': 'RNU6-561P', 'score': 0.22}]
chr2 GH02I079831 79831989 79833739 0.31 [{'connected_gene': 'RNU6-561P', 'score': 10.13}, {'connected_gene': 'CTNNA2', 'score': 10.08}, {'connected_gene': 'MIR8080', 'score': 0.29}, {'connected_gene': 'GC02M079767', 'score': 0.22}]
chr2 GH02I079511 79511435 79511564 0.87 [{'connected_gene': 'RNU6-561P', 'score': 9.73}, {'connected_gene': 'CTNNA2', 'score': 9.66}, {'connected_gene': 'LOC101927987', 'score': 0.39}, {'connected_gene': 'ENSG00000277171', 'score': 0.28}]
chr2 GH02I079513 79512175 79512324 0.38 [{'connected_gene': 'RNU6-561P', 'score': 9.73}, {'connected_gene': 'CTNNA2', 'score': 9.66}, {'connected_gene': 'LOC101927987', 'score': 0.39}, {'connected_gene': 'ENSG00000277171', 'score': 0.28}]
chr2 GH02I079722 79722121 79724994 0.46 [{'connected_gene': 'RNU6-561P', 'score': 10.14}, {'connected_gene': 'CTNNA2', 'score': 10.0}, {'connected_gene': 'GC02M079749', 'score': 0.29}, {'connected_gene': 'MIR4264', 'score': 0.19}]
chr2 GH02I079670 79670335 79670484 0.43 [{'connected_gene': 'RNU6-561P', 'score': 11.23}, {'connected_gene': 'CTNNA2', 'score': 10.98}, {'connected_gene': 'MIR4264', 'score': 0.34}, {'connected_gene': 'GC02M079749', 'score': 0.18}]
chr2 GH02I079640 79640175 79640264 0.31 [{'connected_gene': 'RNU6-561P', 'score': 0.77}, {'connected_gene': 'MIR4264', 'score': 0.44}, {'connected_gene': 'CTNNA2', 'score': 0.05}]
chr2 GH02I079585 79585809 79585993 0.2 [{'connected_gene': 'LOC100422337', 'score': 0.39}, {'connected_gene': 'RNU6-561P', 'score': 0.23}, {'connected_gene': 'CTNNA2', 'score': 0.05}]
chr2 GH02I080102 80102215 80102364 0.43 [{'connected_gene': 'PIR44467', 'score': 550.77}, {'connected_gene': 'GC02P080062', 'score': 0.28}, {'connected_gene': 'CTNNA2', 'score': 0.02}]
chr2 GH02I080080 80080946 80081197 0.33 [{'connected_gene': 'GC02P080062', 'score': 0.37}, {'connected_gene': 'PIR44467', 'score': 0.34}, {'connected_gene': 'CTNNA2', 'score': 0.03}]
chr2 GH02I080086 80086458 80087111 0.67 [{'connected_gene': 'PIR44467', 'score': 0.37}, {'connected_gene': 'GC02P080062', 'score': 0.34}, {'connected_gene': 'CTNNA2', 'score': 0.02}]
chr2 GH02I079392 79392980 79394890 0.86 [{'connected_gene': 'GC02M079404', 'score': 0.34}, {'connected_gene': 'LOC105374823', 'score': 0.15}, {'connected_gene': 'CTNNA2', 'score': 0.08}]
chr2 GH02I079782 79782254 79783773 0.72 [{'connected_gene': 'GC02M079767', 'score': 0.44}, {'connected_gene': 'MIR8080', 'score': 0.18}, {'connected_gene': 'CTNNA2', 'score': 0.03}]
chr2 GH02I079820 79820231 79820820 0.2 [{'connected_gene': 'GC02M079767', 'score': 0.26}, {'connected_gene': 'MIR8080', 'score': 0.25}, {'connected_gene': 'CTNNA2', 'score': 0.03}]
chr2 GH02I079789 79789181 79790442 0.31 [{'connected_gene': 'GC02M079767', 'score': 0.39}, {'connected_gene': 'MIR8080', 'score': 0.18}, {'connected_gene': 'CTNNA2', 'score': 0.03}]
chr2 GH02I080007 80007987 80008858 0.43 [{'connected_gene': 'ENSG00000224731', 'score': 12.72}, {'connected_gene': 'MIR8080', 'score': 0.11}, {'connected_gene': 'CTNNA2', 'score': 0.03}]
chr2 GH02I080000 80000951 80002664 0.2 [{'connected_gene': 'ENSG00000224731', 'score': 12.18}, {'connected_gene': 'MIR8080', 'score': 0.12}, {'connected_gene': 'CTNNA2', 'score': 0.03}]
chr2 GH02I079716 79716480 79718241 0.31 [{'connected_gene': 'GC02M079749', 'score': 0.28}, {'connected_gene': 'MIR4264', 'score': 0.2}, {'connected_gene': 'CTNNA2', 'score': 0.03}]

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