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
ENST00000503566 [[119060346, 119061161], [119061418, 119061549], [119063860, 119063953], [119064475, 119064595], [119065632, 119065704], [119066133, 119066197]] [[119061008, 119061161], [119061418, 119061549], [119063860, 119063953], [119064475, 119064595], [119065632, 119065704], [119066133, 119066197]]
ENST00000375140 [[119060958, 119061161], [119061418, 119061549], [119063860, 119064595], [119065632, 119065704], [119066133, 119066209], [119066508, 119066710], [119067197, 119067479]] None
ENST00000415318 [[119060964, 119061161], [119061418, 119061549], [119063860, 119063953], [119064475, 119064595], [119065632, 119065704], [119066133, 119066209], [119066508, 119066584]] [[119061008, 119061161], [119061418, 119061549], [119063860, 119063953], [119064475, 119064595], [119065632, 119065704], [119066133, 119066197]]
ENST00000447948 [[119065890, 119066209], [119066508, 119066584]] None
NM_001145018 [[119060962, 119061161], [119061418, 119061549], [119063860, 119063953], [119064475, 119064595], [119065632, 119065704], [119066133, 119066209], [119066508, 119066584]] [[119061008, 119061161], [119061418, 119061549], [119063860, 119063953], [119064475, 119064595], [119065632, 119065704], [119066133, 119066197]]
Promoter
Chrom Start End Description
chr11 119066545 119066559 CAGE_peak_1_at_CCDC153_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I119205 119205007 119208146 1.94 [{'connected_gene': 'CBL', 'score': 566.63}, {'connected_gene': 'GC11M119206', 'score': 550.77}, {'connected_gene': 'CCDC153', 'score': 550.77}, {'connected_gene': 'RPL5P30', 'score': 5.17}, {'connected_gene': 'GC11M119252', 'score': 0.25}]
chr11 GH11I119675 119675861 119678469 0.59 [{'connected_gene': 'VPS11', 'score': 12.25}, {'connected_gene': 'ENSG00000255121', 'score': 11.08}, {'connected_gene': 'CCDC153', 'score': 5.23}, {'connected_gene': 'RNU6-1123P', 'score': 0.34}, {'connected_gene': 'LOC105369525', 'score': 0.29}, {'connected_gene': 'NECTIN1', 'score': 0.23}]
chr11 GH11I118433 118433976 118442200 2.7 [{'connected_gene': 'KMT2A', 'score': 561.41}, {'connected_gene': 'VPS11', 'score': 31.7}, {'connected_gene': 'TMEM25', 'score': 23.66}, {'connected_gene': 'IFT46', 'score': 19.63}, {'connected_gene': 'ARCN1', 'score': 19.21}, {'connected_gene': 'HINFP', 'score': 19.15}, {'connected_gene': 'THY1', 'score': 12.58}, {'connected_gene': 'CCDC84', 'score': 10.81}, {'connected_gene': 'LOC101929089', 'score': 10.61}, {'connected_gene': 'ENSG00000254873', 'score': 10.6}, {'connected_gene': 'ATP5MG', 'score': 10.6}, {'connected_gene': 'FXYD6', 'score': 10.18}, {'connected_gene': 'DSCAML1', 'score': 9.93}, {'connected_gene': 'CCDC153', 'score': 5.08}, {'connected_gene': 'ENSG00000255384', 'score': 0.77}, {'connected_gene': 'GC11M118474', 'score': 0.28}]
chr11 GH11I119221 119221991 119223200 0.51 [{'connected_gene': 'HMBS', 'score': 5.77}, {'connected_gene': 'CCDC153', 'score': 0.37}, {'connected_gene': 'CBL', 'score': 0.37}, {'connected_gene': 'GC11M119252', 'score': 0.29}]
chr11 GH11I119210 119210001 119210200 0.31 [{'connected_gene': 'CCDC153', 'score': 0.77}, {'connected_gene': 'CBL', 'score': 0.77}, {'connected_gene': 'GC11M119252', 'score': 0.26}]
chr11 GH11I119690 119690165 119702813 1.51 [{'connected_gene': 'CCDC153', 'score': 4.94}, {'connected_gene': 'NECTIN1', 'score': 2.54}, {'connected_gene': 'TRIM29', 'score': 1.94}, {'connected_gene': 'LOC105369525', 'score': 0.39}, {'connected_gene': 'RNU6-1123P', 'score': 0.26}]
chr11 GH11I119680 119680449 119681667 0.94 [{'connected_gene': 'CCDC153', 'score': 5.15}, {'connected_gene': 'RNU6-1123P', 'score': 0.34}, {'connected_gene': 'LOC105369525', 'score': 0.31}, {'connected_gene': 'NECTIN1', 'score': 0.25}]
chr11 GH11I119195 119195800 119196001 1.35 [{'connected_gene': 'CCDC153', 'score': 550.39}, {'connected_gene': 'PIR45666', 'score': 0.77}, {'connected_gene': 'GC11M119206', 'score': 0.44}]
chr11 GH11I118906 118906480 118931105 2.88 [{'connected_gene': 'BCL9L', 'score': 577.01}, {'connected_gene': 'DPAGT1', 'score': 32.47}, {'connected_gene': 'UBE4A', 'score': 28.16}, {'connected_gene': 'ENSG00000254909', 'score': 28.08}, {'connected_gene': 'RPL23AP64', 'score': 25.24}, {'connected_gene': 'ARCN1', 'score': 24.99}, {'connected_gene': 'ENSG00000254428', 'score': 23.08}, {'connected_gene': 'RNF26', 'score': 19.84}, {'connected_gene': 'CCDC84', 'score': 16.8}, {'connected_gene': 'KMT2A', 'score': 15.66}, {'connected_gene': 'CXCR5', 'score': 15.27}, {'connected_gene': 'MPZL2', 'score': 13.97}, {'connected_gene': 'DDX6', 'score': 13.42}, {'connected_gene': 'RPS25', 'score': 13.01}, {'connected_gene': 'VPS11', 'score': 12.54}, {'connected_gene': 'HMBS', 'score': 12.4}, {'connected_gene': 'ENSG00000222529', 'score': 12.22}, {'connected_gene': 'FOXR1', 'score': 12.22}, {'connected_gene': 'C2CD2L', 'score': 12.12}, {'connected_gene': 'ENSG00000255121', 'score': 11.37}, {'connected_gene': 'ENSG00000245869', 'score': 11.36}, {'connected_gene': 'JAML', 'score': 10.87}, {'connected_gene': 'HINFP', 'score': 10.27}, {'connected_gene': 'H2AFX', 'score': 10.24}, {'connected_gene': 'TRAPPC4', 'score': 9.9}, {'connected_gene': 'RPL5P30', 'score': 9.78}, {'connected_gene': 'UPK2', 'score': 3.43}, {'connected_gene': 'HYOU1', 'score': 2.91}, {'connected_gene': 'SLC37A4', 'score': 2.67}, {'connected_gene': 'PHLDB1', 'score': 2.39}, {'connected_gene': 'CBL', 'score': 2.38}, {'connected_gene': 'CCDC153', 'score': 1.67}, {'connected_gene': 'MIR4492', 'score': 0.44}, {'connected_gene': 'GC11P118898', 'score': 0.34}]
chr11 GH11I118874 118874824 118879867 1.58 [{'connected_gene': 'BCL9L', 'score': 28.47}, {'connected_gene': 'DDX6', 'score': 18.49}, {'connected_gene': 'ENSG00000254909', 'score': 18.27}, {'connected_gene': 'UBE4A', 'score': 17.44}, {'connected_gene': 'ARCN1', 'score': 16.84}, {'connected_gene': 'RPL23AP64', 'score': 16.82}, {'connected_gene': 'ENSG00000254428', 'score': 14.53}, {'connected_gene': 'MPZL2', 'score': 13.97}, {'connected_gene': 'DPAGT1', 'score': 13.42}, {'connected_gene': 'RPS25', 'score': 12.44}, {'connected_gene': 'TREHP1', 'score': 11.89}, {'connected_gene': 'UPK2', 'score': 11.28}, {'connected_gene': 'RN7SL688P', 'score': 11.03}, {'connected_gene': 'RNF26', 'score': 10.41}, {'connected_gene': 'PHLDB1', 'score': 9.36}, {'connected_gene': 'LOC105369519', 'score': 7.75}, {'connected_gene': 'TREH', 'score': 7.72}, {'connected_gene': 'CXCR5', 'score': 6.42}, {'connected_gene': 'CCDC84', 'score': 5.87}, {'connected_gene': 'IFT46', 'score': 4.71}, {'connected_gene': 'TRAPPC4', 'score': 4.54}, {'connected_gene': 'CBL', 'score': 4.45}, {'connected_gene': 'KMT2A', 'score': 4.01}, {'connected_gene': 'VPS11', 'score': 2.82}, {'connected_gene': 'CCDC153', 'score': 1.72}, {'connected_gene': 'ENSG00000201535', 'score': 0.26}]
chr11 GH11I119217 119217321 119219347 0.93 [{'connected_gene': 'HINFP', 'score': 27.02}, {'connected_gene': 'NLRX1', 'score': 20.07}, {'connected_gene': 'CBL', 'score': 19.93}, {'connected_gene': 'PDZD3', 'score': 11.62}, {'connected_gene': 'ABCG4', 'score': 10.83}, {'connected_gene': 'DPAGT1', 'score': 10.54}, {'connected_gene': 'C2CD2L', 'score': 10.54}, {'connected_gene': 'H2AFX', 'score': 10.53}, {'connected_gene': 'HMBS', 'score': 10.52}, {'connected_gene': 'MFRP', 'score': 10.28}, {'connected_gene': 'C1QTNF5', 'score': 10.28}, {'connected_gene': 'MCAM', 'score': 9.16}, {'connected_gene': 'ENSG00000271751', 'score': 5.29}, {'connected_gene': 'CCDC153', 'score': 0.39}, {'connected_gene': 'GC11M119252', 'score': 0.29}]
chr11 GH11I119106 119106036 119109922 2.05 [{'connected_gene': 'DPAGT1', 'score': 563.47}, {'connected_gene': 'C2CD2L', 'score': 550.44}, {'connected_gene': 'HINFP', 'score': 20.59}, {'connected_gene': 'ENSG00000254909', 'score': 14.73}, {'connected_gene': 'UBE4A', 'score': 13.32}, {'connected_gene': 'ARCN1', 'score': 13.25}, {'connected_gene': 'RPL23AP64', 'score': 12.92}, {'connected_gene': 'ENSG00000254428', 'score': 12.8}, {'connected_gene': 'BCL9L', 'score': 11.31}, {'connected_gene': 'RPS25', 'score': 10.43}, {'connected_gene': 'CCDC84', 'score': 10.14}, {'connected_gene': 'CCDC153', 'score': 6.17}]
chr11 GH11I118868 118868044 118871564 1.52 [{'connected_gene': 'DDX6', 'score': 26.33}, {'connected_gene': 'CCDC84', 'score': 16.15}, {'connected_gene': 'TREHP1', 'score': 13.36}, {'connected_gene': 'UPK2', 'score': 11.27}, {'connected_gene': 'FOXR1', 'score': 11.2}, {'connected_gene': 'ENSG00000222529', 'score': 11.2}, {'connected_gene': 'BCL9L', 'score': 11.02}, {'connected_gene': 'RN7SL688P', 'score': 11.0}, {'connected_gene': 'ENSG00000255176', 'score': 10.55}, {'connected_gene': 'PHLDB1', 'score': 10.54}, {'connected_gene': 'ENSG00000255121', 'score': 10.54}, {'connected_gene': 'NLRX1', 'score': 9.17}, {'connected_gene': 'TREH', 'score': 7.43}, {'connected_gene': 'CXCR5', 'score': 6.99}, {'connected_gene': 'CBL', 'score': 6.14}, {'connected_gene': 'KMT2A', 'score': 2.93}, {'connected_gene': 'VPS11', 'score': 2.16}, {'connected_gene': 'RPS25', 'score': 1.61}, {'connected_gene': 'CCDC153', 'score': 1.23}, {'connected_gene': 'ENSG00000201535', 'score': 0.29}]
chr11 GH11I119240 119240862 119241579 0.2 [{'connected_gene': 'RNU6-262P', 'score': 13.08}, {'connected_gene': 'NLRX1', 'score': 11.32}, {'connected_gene': 'HINFP', 'score': 10.82}, {'connected_gene': 'PDZD3', 'score': 10.75}, {'connected_gene': 'ABCG4', 'score': 10.64}, {'connected_gene': 'C2CD2L', 'score': 10.39}, {'connected_gene': 'DPAGT1', 'score': 10.39}, {'connected_gene': 'H2AFX', 'score': 10.15}, {'connected_gene': 'HMBS', 'score': 10.14}, {'connected_gene': 'GC11M119252', 'score': 0.39}, {'connected_gene': 'CBL', 'score': 0.29}, {'connected_gene': 'CCDC153', 'score': 0.29}]
chr11 GH11I118529 118529270 118532574 1.98 [{'connected_gene': 'GC11P118532', 'score': 550.77}, {'connected_gene': 'TMEM25', 'score': 550.77}, {'connected_gene': 'LOC101929089', 'score': 550.77}, {'connected_gene': 'ENSG00000254909', 'score': 30.81}, {'connected_gene': 'UBE4A', 'score': 28.79}, {'connected_gene': 'BCL9L', 'score': 27.71}, {'connected_gene': 'RPL23AP64', 'score': 27.45}, {'connected_gene': 'ARCN1', 'score': 25.68}, {'connected_gene': 'IFT46', 'score': 25.33}, {'connected_gene': 'ENSG00000254428', 'score': 23.7}, {'connected_gene': 'KMT2A', 'score': 14.53}, {'connected_gene': 'DPAGT1', 'score': 13.38}, {'connected_gene': 'DDX6', 'score': 12.55}, {'connected_gene': 'RPL5P30', 'score': 11.99}, {'connected_gene': 'ENSG00000272186', 'score': 11.07}, {'connected_gene': 'RPS25', 'score': 10.9}, {'connected_gene': 'RNF26', 'score': 10.38}, {'connected_gene': 'VPS11', 'score': 9.88}, {'connected_gene': 'CCDC153', 'score': 4.55}, {'connected_gene': 'TTC36', 'score': 0.77}]
chr11 GH11I119308 119308050 119309102 0.38 [{'connected_gene': 'PIR40709', 'score': 550.77}, {'connected_gene': 'RNF26', 'score': 12.42}, {'connected_gene': 'ENSG00000245385', 'score': 12.42}, {'connected_gene': 'C1QTNF5', 'score': 11.68}, {'connected_gene': 'MFRP', 'score': 11.68}, {'connected_gene': 'ABCG4', 'score': 10.92}, {'connected_gene': 'PDZD3', 'score': 10.75}, {'connected_gene': 'NLRX1', 'score': 10.71}, {'connected_gene': 'MCAM', 'score': 7.67}, {'connected_gene': 'CCDC153', 'score': 6.76}, {'connected_gene': 'MIR6756', 'score': 0.77}, {'connected_gene': 'CBL', 'score': 0.15}]
chr11 GH11I119237 119237051 119237200 0.38 [{'connected_gene': 'GC11M119252', 'score': 0.37}, {'connected_gene': 'CCDC153', 'score': 0.29}, {'connected_gene': 'CBL', 'score': 0.29}]
chr11 GH11I119196 119196601 119197400 1.05 [{'connected_gene': 'PIR45666', 'score': 0.77}, {'connected_gene': 'GC11M119206', 'score': 0.44}, {'connected_gene': 'CCDC153', 'score': 0.44}]
chr11 GH11I119192 119192001 119192800 0.31 [{'connected_gene': 'PIR45666', 'score': 550.77}, {'connected_gene': 'HINFP', 'score': 15.99}, {'connected_gene': 'PDZD3', 'score': 0.44}, {'connected_gene': 'CCDC153', 'score': 0.39}]

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