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
ENST00000534024 [[118972907, 118973085], [118978084, 118978406]] None
ENST00000528271 [[118977424, 118977484], [118977780, 118978256]] None
ENST00000529600 [[118977451, 118977588], [118977780, 118978286]] None
ENST00000529885 [[118977459, 118977836], [118978222, 118978406]] None
ENST00000527854 [[118977651, 118977836], [118978084, 118978468]] None
ENST00000336702 [[118978092, 118978805], [118980813, 118980909], [118981270, 118981390], [118981556, 118981667], [118981761, 118981878], [118981972, 118982084], [118982230, 118982339], [118983037, 118983102], [118983191, 118983319], [118983409, 118983584], [118984320, 118984422], [118984561, 118984698], [118984789, 118985075], [118986754, 118989252]] [[118978451, 118978805], [118980813, 118980909], [118981270, 118981390], [118981556, 118981667], [118981761, 118981878], [118981972, 118982084], [118982230, 118982339], [118983037, 118983102], [118983191, 118983319], [118983409, 118983584], [118984320, 118984422], [118984561, 118984698], [118984789, 118985075], [118986754, 118986966]]
ENST00000529874 [[118980812, 118980909], [118981270, 118981390], [118981556, 118981667], [118981761, 118981878], [118981972, 118982084], [118982230, 118982339], [118983037, 118983102], [118984346, 118984422], [118984564, 118984844]] None
ENST00000525598 [[118981296, 118981667], [118981761, 118981878], [118981972, 118982084], [118982230, 118983102], [118983191, 118983319], [118983409, 118984698], [118984789, 118987831]] None
ENST00000528586 [[118981766, 118981878], [118981972, 118982084], [118982230, 118982339], [118983037, 118983102], [118983191, 118983319], [118983409, 118983584], [118984320, 118984422], [118984564, 118984698], [118984789, 118985075], [118986734, 118987831]] [[118981836, 118981878], [118981972, 118982084], [118982230, 118982339], [118983037, 118983102], [118983191, 118983319], [118983409, 118983584], [118984320, 118984422], [118984564, 118984698], [118984789, 118985075], [118986734, 118986757]]
ENST00000533458 [[118982270, 118983319], [118983409, 118983999]] None
NM_001290474 [[118978059, 118978805], [118980813, 118980909], [118981270, 118981390], [118981556, 118981667], [118981761, 118981878], [118981972, 118982084], [118982230, 118982339], [118983037, 118983102], [118983191, 118983319], [118983409, 118983584], [118984320, 118984422], [118984564, 118984698], [118984789, 118985075], [118986754, 118987834]] [[118978451, 118978805], [118980813, 118980909], [118981270, 118981390], [118981556, 118981667], [118981761, 118981878], [118981972, 118982084], [118982230, 118982339], [118983037, 118983102], [118983191, 118983319], [118983409, 118983584], [118984320, 118984422], [118984564, 118984698], [118984789, 118985075], [118986754, 118986966]]
NM_014807 [[118978059, 118978805], [118980813, 118980909], [118981270, 118981390], [118981556, 118981667], [118981761, 118981878], [118981972, 118982084], [118982230, 118982339], [118983037, 118983102], [118983191, 118983319], [118983409, 118983584], [118984320, 118984422], [118984561, 118984698], [118984789, 118985075], [118986754, 118987834]] [[118978451, 118978805], [118980813, 118980909], [118981270, 118981390], [118981556, 118981667], [118981761, 118981878], [118981972, 118982084], [118982230, 118982339], [118983037, 118983102], [118983191, 118983319], [118983409, 118983584], [118984320, 118984422], [118984561, 118984698], [118984789, 118985075], [118986754, 118986966]]
Promoter
Chrom Start End Description
chr11 118972953 118972969 CAGE_peak_2_at_C2CD2L_5end
chr11 118977430 118977471 CAGE_peak_3_at_C2CD2L_5end
chr11 118978045 118978139 CAGE_peak_1_at_C2CD2L_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I119100 119100196 119104138 2.07 [{'connected_gene': 'C2CD2L', 'score': 556.15}, {'connected_gene': 'DPAGT1', 'score': 550.44}, {'connected_gene': 'HINFP', 'score': 35.42}, {'connected_gene': 'NLRX1', 'score': 18.03}, {'connected_gene': 'ABCG4', 'score': 10.51}, {'connected_gene': 'HMBS', 'score': 6.47}, {'connected_gene': 'H2AFX', 'score': 0.44}]
chr11 GH11I119257 119257775 119261168 0.72 [{'connected_gene': 'CBL', 'score': 13.9}, {'connected_gene': 'PDZD3', 'score': 10.93}, {'connected_gene': 'NLRX1', 'score': 10.91}, {'connected_gene': 'HMBS', 'score': 10.87}, {'connected_gene': 'ABCG4', 'score': 10.74}, {'connected_gene': 'C1QTNF5', 'score': 10.66}, {'connected_gene': 'MFRP', 'score': 10.66}, {'connected_gene': 'DPAGT1', 'score': 10.49}, {'connected_gene': 'C2CD2L', 'score': 10.49}, {'connected_gene': 'H2AFX', 'score': 10.22}, {'connected_gene': 'HINFP', 'score': 10.14}, {'connected_gene': 'MCAM', 'score': 8.81}, {'connected_gene': 'IFT46', 'score': 5.49}, {'connected_gene': 'GC11M119252', 'score': 0.44}, {'connected_gene': 'GC11M119278', 'score': 0.34}]
chr11 GH11I118904 118904309 118905535 0.2 [{'connected_gene': 'UPK2', 'score': 12.33}, {'connected_gene': 'FOXR1', 'score': 12.19}, {'connected_gene': 'ENSG00000222529', 'score': 12.19}, {'connected_gene': 'CCDC84', 'score': 11.35}, {'connected_gene': 'ENSG00000255121', 'score': 11.34}, {'connected_gene': 'HMBS', 'score': 10.18}, {'connected_gene': 'H2AFX', 'score': 10.17}, {'connected_gene': 'C2CD2L', 'score': 10.16}, {'connected_gene': 'DPAGT1', 'score': 10.16}, {'connected_gene': 'TRAPPC4', 'score': 4.79}, {'connected_gene': 'GC11P118898', 'score': 0.44}, {'connected_gene': 'MIR4492', 'score': 0.44}, {'connected_gene': 'BCL9L', 'score': 0.34}]
chr11 GH11I118903 118903103 118904272 0.2 [{'connected_gene': 'UPK2', 'score': 12.33}, {'connected_gene': 'FOXR1', 'score': 12.19}, {'connected_gene': 'ENSG00000222529', 'score': 12.19}, {'connected_gene': 'CCDC84', 'score': 11.34}, {'connected_gene': 'ENSG00000255121', 'score': 11.34}, {'connected_gene': 'HMBS', 'score': 10.17}, {'connected_gene': 'H2AFX', 'score': 10.17}, {'connected_gene': 'C2CD2L', 'score': 10.16}, {'connected_gene': 'DPAGT1', 'score': 10.16}, {'connected_gene': 'GC11P118898', 'score': 0.44}, {'connected_gene': 'MIR4492', 'score': 0.44}, {'connected_gene': 'BCL9L', 'score': 0.34}]
chr11 GH11I118587 118587489 118588736 0.38 [{'connected_gene': 'IFT46', 'score': 25.78}, {'connected_gene': 'LOC101929089', 'score': 10.43}, {'connected_gene': 'TMEM25', 'score': 10.43}, {'connected_gene': 'TTC36', 'score': 9.96}, {'connected_gene': 'KMT2A', 'score': 9.68}, {'connected_gene': 'ENSG00000255384', 'score': 9.68}, {'connected_gene': 'HMBS', 'score': 9.37}, {'connected_gene': 'C2CD2L', 'score': 9.36}, {'connected_gene': 'H2AFX', 'score': 9.36}, {'connected_gene': 'DPAGT1', 'score': 9.36}, {'connected_gene': 'RPL5P30', 'score': 5.31}, {'connected_gene': 'GC11P118595', 'score': 0.44}, {'connected_gene': 'ARCN1', 'score': 0.37}]
chr11 GH11I119076 119076663 119079195 0.2 [{'connected_gene': 'VPS11', 'score': 30.51}, {'connected_gene': 'HMBS', 'score': 16.07}, {'connected_gene': 'C2CD2L', 'score': 13.16}, {'connected_gene': 'DPAGT1', 'score': 13.12}, {'connected_gene': 'HYOU1', 'score': 12.66}, {'connected_gene': 'ENSG00000255114', 'score': 12.62}, {'connected_gene': 'SLC37A4', 'score': 12.05}, {'connected_gene': 'RPS25', 'score': 12.03}, {'connected_gene': 'TRAPPC4', 'score': 12.03}, {'connected_gene': 'HINFP', 'score': 10.86}, {'connected_gene': 'NLRX1', 'score': 10.74}, {'connected_gene': 'UPK2', 'score': 9.68}, {'connected_gene': 'RN7SL688P', 'score': 9.3}, {'connected_gene': 'BCL9L', 'score': 9.29}, {'connected_gene': 'ENSG00000271751', 'score': 6.46}, {'connected_gene': 'ENSG00000272186', 'score': 0.39}]
chr11 GH11I119066 119066571 119068801 2.06 [{'connected_gene': 'VPS11', 'score': 587.92}, {'connected_gene': 'ENSG00000272186', 'score': 550.77}, {'connected_gene': 'DPAGT1', 'score': 24.02}, {'connected_gene': 'HMBS', 'score': 16.77}, {'connected_gene': 'ARCN1', 'score': 13.31}, {'connected_gene': 'H2AFX', 'score': 12.96}, {'connected_gene': 'C2CD2L', 'score': 12.94}, {'connected_gene': 'KMT2A', 'score': 12.53}, {'connected_gene': 'ENSG00000254909', 'score': 12.38}, {'connected_gene': 'SLC37A4', 'score': 12.37}, {'connected_gene': 'RPS25', 'score': 12.34}, {'connected_gene': 'TRAPPC4', 'score': 12.34}, {'connected_gene': 'UBE4A', 'score': 11.86}, {'connected_gene': 'RPL5P30', 'score': 11.19}, {'connected_gene': 'RNF26', 'score': 11.13}, {'connected_gene': 'RPL23AP64', 'score': 11.11}, {'connected_gene': 'HINFP', 'score': 10.95}, {'connected_gene': 'BCL9L', 'score': 10.64}, {'connected_gene': 'NLRX1', 'score': 10.4}, {'connected_gene': 'FOXR1', 'score': 10.18}, {'connected_gene': 'ENSG00000222529', 'score': 10.18}, {'connected_gene': 'UPK2', 'score': 10.13}, {'connected_gene': 'ENSG00000271751', 'score': 5.71}]
chr11 GH11I119062 119062930 119063059 0.74 [{'connected_gene': 'HMBS', 'score': 12.99}, {'connected_gene': 'H2AFX', 'score': 12.94}, {'connected_gene': 'C2CD2L', 'score': 12.93}, {'connected_gene': 'DPAGT1', 'score': 12.9}, {'connected_gene': 'SLC37A4', 'score': 12.39}, {'connected_gene': 'RPS25', 'score': 12.36}, {'connected_gene': 'TRAPPC4', 'score': 12.36}, {'connected_gene': 'HINFP', 'score': 10.94}, {'connected_gene': 'NLRX1', 'score': 10.4}, {'connected_gene': 'FOXR1', 'score': 10.18}, {'connected_gene': 'ENSG00000222529', 'score': 10.18}, {'connected_gene': 'UPK2', 'score': 10.14}, {'connected_gene': 'ENSG00000271751', 'score': 0.77}, {'connected_gene': 'GC11P119057', 'score': 0.44}]
chr11 GH11I119090 119090741 119096602 2.5 [{'connected_gene': 'H2AFX', 'score': 550.77}, {'connected_gene': 'GC11M119097', 'score': 550.77}, {'connected_gene': 'KMT2A', 'score': 73.28}, {'connected_gene': 'HINFP', 'score': 65.6}, {'connected_gene': 'UBE4A', 'score': 58.73}, {'connected_gene': 'ARCN1', 'score': 52.05}, {'connected_gene': 'BCL9L', 'score': 50.4}, {'connected_gene': 'RPL5P30', 'score': 49.27}, {'connected_gene': 'ENSG00000254909', 'score': 39.2}, {'connected_gene': 'CCDC84', 'score': 38.84}, {'connected_gene': 'VPS11', 'score': 37.04}, {'connected_gene': 'IFT46', 'score': 36.17}, {'connected_gene': 'RPL23AP64', 'score': 33.81}, {'connected_gene': 'ENSG00000254428', 'score': 32.02}, {'connected_gene': 'RPS25', 'score': 30.38}, {'connected_gene': 'DPAGT1', 'score': 29.33}, {'connected_gene': 'RNF26', 'score': 22.29}, {'connected_gene': 'C2CD2L', 'score': 15.2}, {'connected_gene': 'MPZL2', 'score': 13.97}, {'connected_gene': 'HMBS', 'score': 12.16}, {'connected_gene': 'ENSG00000245869', 'score': 11.94}, {'connected_gene': 'DDX6', 'score': 11.24}, {'connected_gene': 'ENSG00000271751', 'score': 6.77}]
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 GH11I119114 119114629 119117432 0.84 [{'connected_gene': 'HINFP', 'score': 43.39}, {'connected_gene': 'C2CD2L', 'score': 9.98}, {'connected_gene': 'NLRX1', 'score': 7.38}, {'connected_gene': 'HMBS', 'score': 6.45}, {'connected_gene': 'DPAGT1', 'score': 0.44}]
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 GH11I119125 119125208 119127183 0.43 [{'connected_gene': 'HINFP', 'score': 44.15}, {'connected_gene': 'HMBS', 'score': 11.94}, {'connected_gene': 'VPS11', 'score': 11.9}, {'connected_gene': 'ABCG4', 'score': 11.88}, {'connected_gene': 'NLRX1', 'score': 11.73}, {'connected_gene': 'PDZD3', 'score': 11.19}, {'connected_gene': 'C2CD2L', 'score': 11.13}, {'connected_gene': 'H2AFX', 'score': 11.09}, {'connected_gene': 'PIR55037', 'score': 0.44}]
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 GH11I119104 119104429 119104619 0.22 [{'connected_gene': 'DPAGT1', 'score': 0.77}, {'connected_gene': 'C2CD2L', 'score': 0.77}]
chr11 GH11I119262 119262137 119264399 0.85 [{'connected_gene': 'RNU6-262P', 'score': 12.19}, {'connected_gene': 'NLRX1', 'score': 11.09}, {'connected_gene': 'PDZD3', 'score': 11.0}, {'connected_gene': 'ABCG4', 'score': 10.95}, {'connected_gene': 'HINFP', 'score': 10.7}, {'connected_gene': 'DPAGT1', 'score': 10.31}, {'connected_gene': 'H2AFX', 'score': 10.31}, {'connected_gene': 'C2CD2L', 'score': 10.3}, {'connected_gene': 'HMBS', 'score': 10.3}, {'connected_gene': 'GC11M119252', 'score': 0.39}, {'connected_gene': 'GC11M119278', 'score': 0.37}, {'connected_gene': 'CBL', 'score': 0.22}]
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 GH11I119284 119284491 119284640 0.56 [{'connected_gene': 'PIR36750', 'score': 550.77}, {'connected_gene': 'GC11P119286', 'score': 550.77}, {'connected_gene': 'ABCG4', 'score': 11.52}, {'connected_gene': 'NLRX1', 'score': 10.47}, {'connected_gene': 'DPAGT1', 'score': 10.44}, {'connected_gene': 'C2CD2L', 'score': 10.44}, {'connected_gene': 'H2AFX', 'score': 10.43}, {'connected_gene': 'HMBS', 'score': 10.43}, {'connected_gene': 'GC11M119278', 'score': 0.77}, {'connected_gene': 'CBL', 'score': 0.18}]
chr11 GH11I119285 119284691 119284880 0.62 [{'connected_gene': 'PIR36750', 'score': 550.77}, {'connected_gene': 'GC11P119286', 'score': 550.77}, {'connected_gene': 'ABCG4', 'score': 11.52}, {'connected_gene': 'NLRX1', 'score': 10.47}, {'connected_gene': 'DPAGT1', 'score': 10.44}, {'connected_gene': 'C2CD2L', 'score': 10.44}, {'connected_gene': 'H2AFX', 'score': 10.43}, {'connected_gene': 'HMBS', 'score': 10.43}, {'connected_gene': 'GC11M119278', 'score': 0.77}, {'connected_gene': 'CBL', 'score': 0.18}]
chr11 GH11I119065 119065530 119065679 0.75 [{'connected_gene': 'ENSG00000271751', 'score': 550.77}, {'connected_gene': 'H2AFX', 'score': 12.96}, {'connected_gene': 'C2CD2L', 'score': 12.93}, {'connected_gene': 'DPAGT1', 'score': 12.91}, {'connected_gene': 'SLC37A4', 'score': 12.39}, {'connected_gene': 'RPS25', 'score': 12.34}, {'connected_gene': 'TRAPPC4', 'score': 12.34}, {'connected_gene': 'HINFP', 'score': 10.94}, {'connected_gene': 'NLRX1', 'score': 10.4}, {'connected_gene': 'FOXR1', 'score': 10.18}, {'connected_gene': 'ENSG00000222529', 'score': 10.18}, {'connected_gene': 'UPK2', 'score': 10.13}, {'connected_gene': 'GC11P119057', 'score': 0.44}]
chr11 GH11I119305 119305003 119307697 1 [{'connected_gene': 'PIR37472', 'score': 550.77}, {'connected_gene': 'PIR40709', 'score': 550.77}, {'connected_gene': 'GC11P119412', 'score': 550.77}, {'connected_gene': 'HINFP', 'score': 15.57}, {'connected_gene': 'RNF26', 'score': 12.07}, {'connected_gene': 'ENSG00000245385', 'score': 12.05}, {'connected_gene': 'C1QTNF5', 'score': 11.02}, {'connected_gene': 'MFRP', 'score': 11.02}, {'connected_gene': 'NLRX1', 'score': 10.87}, {'connected_gene': 'ABCG4', 'score': 10.53}, {'connected_gene': 'DPAGT1', 'score': 10.18}, {'connected_gene': 'C2CD2L', 'score': 10.18}, {'connected_gene': 'MCAM', 'score': 9.3}, {'connected_gene': 'RN7SL688P', 'score': 9.11}, {'connected_gene': 'BCL9L', 'score': 9.11}, {'connected_gene': 'UPK2', 'score': 9.11}, {'connected_gene': 'CBL', 'score': 0.15}]

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