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
ENST00000355173 [[101003485, 101005652], [101006832, 101006916], [101010194, 101010302], [101011336, 101011403], [101012837, 101012999], [101034247, 101034276], [101036074, 101036131]] [[101004305, 101005652], [101006832, 101006916], [101010194, 101010302], [101011336, 101011403], [101012837, 101012999], [101034247, 101034261]]
ENST00000556751 [[101003489, 101005652], [101006832, 101006916], [101010194, 101010302], [101011336, 101011403], [101012837, 101016226]] [[101004305, 101005652], [101006832, 101006916], [101010194, 101010302], [101011336, 101011387]]
ENST00000443071 [[101003489, 101005652], [101006832, 101006916], [101010194, 101010302], [101011336, 101011403], [101012837, 101012999], [101034247, 101034407]] [[101004305, 101005652], [101006832, 101006916], [101010194, 101010302], [101011336, 101011403], [101012837, 101012999], [101034247, 101034261]]
ENST00000553553 [[101005224, 101005652], [101006832, 101006916], [101010194, 101010302], [101011336, 101011403], [101012837, 101012999], [101034247, 101034276], [101034781, 101034828]] [[101005224, 101005652], [101006832, 101006916], [101010194, 101010302], [101011336, 101011403], [101012837, 101012999], [101034247, 101034276], [101034781, 101034802]]
ENST00000556188 [[101005224, 101005652], [101006832, 101006916], [101010194, 101010302], [101011336, 101011403], [101012837, 101012999], [101034247, 101034276], [101035763, 101035895]] [[101005224, 101005652], [101006832, 101006916], [101010194, 101010302], [101011336, 101011403], [101012837, 101012999], [101034247, 101034261]]
ENST00000554356 [[101005371, 101005652], [101006832, 101006916], [101010194, 101010302], [101011336, 101011403], [101012837, 101012999], [101014390, 101014435]] [[101005371, 101005652], [101006832, 101006916], [101010194, 101010302], [101011336, 101011387]]
ENST00000557378 [[101005584, 101005652], [101006832, 101006916], [101010194, 101010302], [101011336, 101011403], [101012837, 101012999], [101034247, 101034407]] [[101005584, 101005652], [101006832, 101006916], [101010194, 101010302], [101011336, 101011403], [101012837, 101012999], [101034247, 101034261]]
ENST00000554140 [[101005635, 101005652], [101006832, 101006916], [101010194, 101010302], [101011336, 101011403], [101012837, 101012999], [101034247, 101034276], [101053585, 101053750]] [[101005635, 101005652], [101006832, 101006916], [101010194, 101010302], [101011336, 101011403], [101012837, 101012999], [101034247, 101034276], [101053585, 101053627]]
ENST00000554274 [[101010278, 101010302], [101011336, 101011666]] None
ENST00000554747 [[101012358, 101012604], [101012837, 101012999], [101034247, 101034276], [101035235, 101035423]] None
NM_001159531 [[101003483, 101005652], [101006832, 101006916], [101010194, 101010302], [101011336, 101011403], [101012837, 101012999], [101034247, 101034407]] [[101004305, 101005652], [101006832, 101006916], [101010194, 101010302], [101011336, 101011403], [101012837, 101012999], [101034247, 101034261]]
NM_020836 [[101003483, 101005652], [101006832, 101006916], [101010194, 101010302], [101011336, 101011403], [101012837, 101012999], [101034247, 101034276], [101036074, 101036131]] [[101004305, 101005652], [101006832, 101006916], [101010194, 101010302], [101011336, 101011403], [101012837, 101012999], [101034247, 101034261]]
Promoter
Chrom Start End Description
chr14 101014442 101014468 CAGE_peak_2_at_BEGAIN_5end
chr14 101034469 101034487 CAGE_peak_8_at_BEGAIN_5end
chr14 101034622 101034645 CAGE_peak_5_at_BEGAIN_5end
chr14 101034811 101034835 CAGE_peak_4_at_BEGAIN_5end
chr14 101035289 101035323 CAGE_peak_3_at_BEGAIN_5end
chr14 101036119 101036130 CAGE_peak_20_at_BEGAIN_5end
chr14 101053703 101053728 CAGE_peak_6_at_BEGAIN_5end
chr14 101053739 101053767 CAGE_peak_1_at_BEGAIN_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I100470 100470779 100474113 1.05 [{'connected_gene': 'CCNK', 'score': 16.62}, {'connected_gene': 'BEGAIN', 'score': 10.75}, {'connected_gene': 'WARS', 'score': 10.22}, {'connected_gene': 'WDR25', 'score': 10.22}, {'connected_gene': 'ENSG00000258666', 'score': 9.91}, {'connected_gene': 'NDUFB3P4', 'score': 6.1}, {'connected_gene': 'HMGN1P25', 'score': 0.44}, {'connected_gene': 'GC14M100431', 'score': 0.2}, {'connected_gene': 'LOC105370664', 'score': 0.2}]
chr14 GH14I100788 100788010 100793464 1.11 [{'connected_gene': 'DLK1', 'score': 10.81}, {'connected_gene': 'MIR493', 'score': 10.64}, {'connected_gene': 'MIR337', 'score': 10.64}, {'connected_gene': 'MIR431', 'score': 10.62}, {'connected_gene': 'MIR433', 'score': 10.62}, {'connected_gene': 'MIR136', 'score': 10.62}, {'connected_gene': 'RTL1', 'score': 10.62}, {'connected_gene': 'MIR127', 'score': 10.62}, {'connected_gene': 'BEGAIN', 'score': 9.78}, {'connected_gene': 'MEG3', 'score': 0.39}, {'connected_gene': 'MIR2392', 'score': 0.34}]
chr14 GH14I100793 100793541 100794876 0.31 [{'connected_gene': 'DLK1', 'score': 10.27}, {'connected_gene': 'MIR493', 'score': 10.1}, {'connected_gene': 'MIR337', 'score': 10.09}, {'connected_gene': 'MIR431', 'score': 10.08}, {'connected_gene': 'MIR433', 'score': 10.08}, {'connected_gene': 'MIR127', 'score': 10.08}, {'connected_gene': 'MIR136', 'score': 10.07}, {'connected_gene': 'RTL1', 'score': 10.07}, {'connected_gene': 'BEGAIN', 'score': 9.78}, {'connected_gene': 'MEG3', 'score': 0.39}, {'connected_gene': 'MIR2392', 'score': 0.34}]
chr14 GH14I099615 99615310 99617597 0.85 [{'connected_gene': 'HHIPL1', 'score': 13.91}, {'connected_gene': 'EML1', 'score': 9.94}, {'connected_gene': 'BEGAIN', 'score': 9.74}, {'connected_gene': 'ENSG00000247970', 'score': 8.69}, {'connected_gene': 'CCDC85C', 'score': 5.94}, {'connected_gene': 'EVL', 'score': 5.24}, {'connected_gene': 'WARS', 'score': 4.64}, {'connected_gene': 'GC14P099614', 'score': 0.77}, {'connected_gene': 'GC14P099640', 'score': 0.34}]
chr14 GH14I100434 100434001 100435448 1.26 [{'connected_gene': 'WDR25', 'score': 23.8}, {'connected_gene': 'WARS', 'score': 12.39}, {'connected_gene': 'BEGAIN', 'score': 10.34}, {'connected_gene': 'LOC105370664', 'score': 0.31}, {'connected_gene': 'HMGN1P25', 'score': 0.25}, {'connected_gene': 'GC14M100431', 'score': 0.15}]
chr14 GH14I100416 100416345 100418510 1.5 [{'connected_gene': 'WARS', 'score': 26.34}, {'connected_gene': 'WDR25', 'score': 10.98}, {'connected_gene': 'BEGAIN', 'score': 9.49}, {'connected_gene': 'MIR337', 'score': 8.93}, {'connected_gene': 'MIR493', 'score': 8.93}, {'connected_gene': 'MIR431', 'score': 8.93}, {'connected_gene': 'MIR433', 'score': 8.93}, {'connected_gene': 'MIR136', 'score': 8.93}, {'connected_gene': 'RTL1', 'score': 8.93}, {'connected_gene': 'MIR127', 'score': 8.93}, {'connected_gene': 'LOC105370664', 'score': 0.39}, {'connected_gene': 'HMGN1P25', 'score': 0.21}]
chr14 GH14I100424 100424585 100426009 1 [{'connected_gene': 'WARS', 'score': 10.38}, {'connected_gene': 'WDR25', 'score': 10.38}, {'connected_gene': 'BEGAIN', 'score': 10.37}, {'connected_gene': 'SLC25A47', 'score': 9.75}, {'connected_gene': 'LOC105370664', 'score': 0.37}, {'connected_gene': 'HMGN1P25', 'score': 0.22}]
chr14 GH14I100433 100433539 100433675 0.43 [{'connected_gene': 'WARS', 'score': 12.05}, {'connected_gene': 'WDR25', 'score': 10.36}, {'connected_gene': 'BEGAIN', 'score': 10.34}, {'connected_gene': 'LOC105370664', 'score': 0.31}, {'connected_gene': 'HMGN1P25', 'score': 0.25}, {'connected_gene': 'GC14M100431', 'score': 0.15}]
chr14 GH14I100383 100383601 100394790 1.31 [{'connected_gene': 'WARS', 'score': 17.18}, {'connected_gene': 'WDR25', 'score': 16.32}, {'connected_gene': 'SLC25A47', 'score': 10.76}, {'connected_gene': 'BEGAIN', 'score': 10.22}, {'connected_gene': 'MIR493', 'score': 9.51}, {'connected_gene': 'MIR337', 'score': 9.51}, {'connected_gene': 'MIR136', 'score': 9.51}, {'connected_gene': 'RTL1', 'score': 9.51}, {'connected_gene': 'MIR431', 'score': 9.5}, {'connected_gene': 'MIR433', 'score': 9.5}, {'connected_gene': 'MIR127', 'score': 9.5}, {'connected_gene': 'GC14P100409', 'score': 0.37}]
chr14 GH14I100423 100423501 100423890 1.01 [{'connected_gene': 'WARS', 'score': 10.36}, {'connected_gene': 'WDR25', 'score': 10.36}, {'connected_gene': 'SLC25A47', 'score': 9.75}, {'connected_gene': 'BEGAIN', 'score': 1.58}, {'connected_gene': 'LOC105370664', 'score': 0.37}, {'connected_gene': 'HMGN1P25', 'score': 0.22}]
chr14 GH14I100583 100583480 100583520 0.33 [{'connected_gene': 'BEGAIN', 'score': 3.41}, {'connected_gene': 'DLK1', 'score': 1.69}, {'connected_gene': 'ENSG00000259031', 'score': 0.26}]
chr14 GH14I100495 100495261 100505738 0.76 [{'connected_gene': 'BEGAIN', 'score': 53.49}, {'connected_gene': 'WDR25', 'score': 10.08}, {'connected_gene': 'RN7SKP92', 'score': 0.39}, {'connected_gene': 'GC14M100431', 'score': 0.28}, {'connected_gene': 'GC14P103293', 'score': 0.28}]
chr14 GH14I100628 100628072 100631326 0.2 [{'connected_gene': 'BEGAIN', 'score': 12.43}, {'connected_gene': 'WARS', 'score': 10.32}, {'connected_gene': 'WDR25', 'score': 10.32}, {'connected_gene': 'DLK1', 'score': 9.81}, {'connected_gene': 'SLC25A47', 'score': 9.68}, {'connected_gene': 'PIR56329', 'score': 0.34}, {'connected_gene': 'ENSG00000258576', 'score': 0.26}]
chr14 GH14I100652 100652249 100652253 0.4 [{'connected_gene': 'BEGAIN', 'score': 10.87}, {'connected_gene': 'WARS', 'score': 10.32}, {'connected_gene': 'WDR25', 'score': 10.32}, {'connected_gene': 'DLK1', 'score': 9.82}, {'connected_gene': 'PIR56329', 'score': 0.77}, {'connected_gene': 'ENSG00000258576', 'score': 0.21}]
chr14 GH14I100639 100639588 100641126 1.09 [{'connected_gene': 'BEGAIN', 'score': 11.07}, {'connected_gene': 'WARS', 'score': 10.72}, {'connected_gene': 'WDR25', 'score': 10.72}, {'connected_gene': 'MEG3', 'score': 10.02}, {'connected_gene': 'PIR56329', 'score': 0.39}, {'connected_gene': 'ENSG00000258576', 'score': 0.23}]
chr14 GH14I100645 100645066 100646453 1.27 [{'connected_gene': 'BEGAIN', 'score': 11.16}, {'connected_gene': 'WARS', 'score': 10.84}, {'connected_gene': 'WDR25', 'score': 10.84}, {'connected_gene': 'SLC25A47', 'score': 9.52}, {'connected_gene': 'PIR56329', 'score': 0.44}, {'connected_gene': 'ENSG00000258576', 'score': 0.22}]
chr14 GH14I100435 100435525 100443254 1.61 [{'connected_gene': 'BEGAIN', 'score': 13.15}, {'connected_gene': 'WARS', 'score': 10.44}, {'connected_gene': 'WDR25', 'score': 10.44}, {'connected_gene': 'LOC105370664', 'score': 0.29}, {'connected_gene': 'HMGN1P25', 'score': 0.26}, {'connected_gene': 'GC14M100431', 'score': 0.15}]
chr14 GH14I100641 100641484 100641633 0.77 [{'connected_gene': 'BEGAIN', 'score': 11.03}, {'connected_gene': 'WARS', 'score': 10.56}, {'connected_gene': 'WDR25', 'score': 10.56}, {'connected_gene': 'PIR56329', 'score': 0.39}, {'connected_gene': 'ENSG00000258576', 'score': 0.23}]
chr14 GH14I100642 100641704 100641853 0.74 [{'connected_gene': 'BEGAIN', 'score': 11.03}, {'connected_gene': 'WARS', 'score': 10.56}, {'connected_gene': 'WDR25', 'score': 10.56}, {'connected_gene': 'PIR56329', 'score': 0.39}, {'connected_gene': 'ENSG00000258576', 'score': 0.23}]
chr14 GH14I100643 100641284 100641433 0.76 [{'connected_gene': 'BEGAIN', 'score': 11.03}, {'connected_gene': 'WARS', 'score': 10.56}, {'connected_gene': 'WDR25', 'score': 10.56}, {'connected_gene': 'PIR56329', 'score': 0.39}, {'connected_gene': 'ENSG00000258576', 'score': 0.23}]
chr14 GH14I100553 100553703 100558283 1.51 [{'connected_gene': 'BEGAIN', 'score': 45.51}, {'connected_gene': 'WARS', 'score': 6.47}, {'connected_gene': 'WDR25', 'score': 1.33}, {'connected_gene': 'ENSG00000259031', 'score': 0.37}]
chr14 GH14I100520 100520250 100526514 0.68 [{'connected_gene': 'BEGAIN', 'score': 65.73}, {'connected_gene': 'WARS', 'score': 4.66}, {'connected_gene': 'GC14P103293', 'score': 0.39}, {'connected_gene': 'GC14M100431', 'score': 0.37}, {'connected_gene': 'RN7SKP92', 'score': 0.28}, {'connected_gene': 'WDR25', 'score': 0.11}]
chr14 GH14I100475 100475065 100478428 1.4 [{'connected_gene': 'BEGAIN', 'score': 19.14}, {'connected_gene': 'MEG3', 'score': 9.28}, {'connected_gene': 'DLK1', 'score': 9.06}, {'connected_gene': 'HMGN1P25', 'score': 0.77}, {'connected_gene': 'GC14M100431', 'score': 0.21}, {'connected_gene': 'LOC105370664', 'score': 0.19}, {'connected_gene': 'WDR25', 'score': 0.15}]
chr14 GH14I100632 100632500 100636702 0.52 [{'connected_gene': 'BEGAIN', 'score': 12.01}, {'connected_gene': 'MEG3', 'score': 10.01}, {'connected_gene': 'SLC25A47', 'score': 9.68}, {'connected_gene': 'PIR56329', 'score': 0.37}, {'connected_gene': 'ENSG00000258576', 'score': 0.25}]
chr14 GH14I100616 100616954 100619000 1.27 [{'connected_gene': 'BEGAIN', 'score': 17.8}, {'connected_gene': 'DIO3', 'score': 12.01}, {'connected_gene': 'DIO3OS', 'score': 11.03}, {'connected_gene': 'DLK1', 'score': 9.89}, {'connected_gene': 'ENSG00000258576', 'score': 0.31}, {'connected_gene': 'PIR56329', 'score': 0.28}]
chr14 GH14I100511 100511170 100512035 0.31 [{'connected_gene': 'BEGAIN', 'score': 34.7}, {'connected_gene': 'RN7SKP92', 'score': 0.34}, {'connected_gene': 'GC14M100431', 'score': 0.31}, {'connected_gene': 'GC14P103293', 'score': 0.31}, {'connected_gene': 'WDR25', 'score': 0.12}]
chr14 GH14I100532 100532436 100535169 1.1 [{'connected_gene': 'BEGAIN', 'score': 56.53}, {'connected_gene': 'GC14M100431', 'score': 0.77}, {'connected_gene': 'GC14P103293', 'score': 0.77}, {'connected_gene': 'RN7SKP92', 'score': 0.25}]
chr14 GH14I100428 100428864 100429013 0.69 [{'connected_gene': 'BEGAIN', 'score': 10.03}, {'connected_gene': 'LOC105370664', 'score': 0.34}, {'connected_gene': 'HMGN1P25', 'score': 0.23}, {'connected_gene': 'WDR25', 'score': 0.23}]
chr14 GH14I100429 100429332 100430105 0.83 [{'connected_gene': 'BEGAIN', 'score': 10.03}, {'connected_gene': 'LOC105370664', 'score': 0.34}, {'connected_gene': 'HMGN1P25', 'score': 0.23}, {'connected_gene': 'WDR25', 'score': 0.23}]
chr14 GH14I100549 100549315 100550227 0.43 [{'connected_gene': 'BEGAIN', 'score': 15.84}, {'connected_gene': 'ENSG00000259031', 'score': 0.39}, {'connected_gene': 'GC14P103293', 'score': 0.39}]
chr14 GH14I100612 100612762 100613799 0.38 [{'connected_gene': 'BEGAIN', 'score': 16.94}, {'connected_gene': 'ENSG00000258576', 'score': 0.34}, {'connected_gene': 'PIR56329', 'score': 0.26}]
chr14 GH14I100546 100545540 100549091 1.55 [{'connected_gene': 'BEGAIN', 'score': 66.16}, {'connected_gene': 'ENSG00000259031', 'score': 0.44}, {'connected_gene': 'GC14P103293', 'score': 0.44}]
chr14 GH14I100608 100608685 100612740 0.46 [{'connected_gene': 'BEGAIN', 'score': 19.19}, {'connected_gene': 'ENSG00000258576', 'score': 0.34}, {'connected_gene': 'PIR56329', 'score': 0.26}]
chr14 GH14I100571 100571714 100574433 0.97 [{'connected_gene': 'BEGAIN', 'score': 15.53}, {'connected_gene': 'ENSG00000259031', 'score': 0.29}]
chr14 GH14I100565 100565918 100571471 1.75 [{'connected_gene': 'BEGAIN', 'score': 569.7}, {'connected_gene': 'ENSG00000259031', 'score': 0.31}]
chr14 GH14I100576 100576688 100578742 0.6 [{'connected_gene': 'BEGAIN', 'score': 14.79}, {'connected_gene': 'ENSG00000259031', 'score': 0.28}]
chr14 GH14I100585 100585929 100587601 1.59 [{'connected_gene': 'BEGAIN', 'score': 550.77}, {'connected_gene': 'ENSG00000259031', 'score': 0.25}]
chr14 GH14I101555 101555194 101556098 0.82 [{'connected_gene': 'ZNF839', 'score': 23.05}, {'connected_gene': 'DYNC1H1', 'score': 20.36}, {'connected_gene': 'WDR20', 'score': 19.27}, {'connected_gene': 'DIO3OS', 'score': 18.84}, {'connected_gene': 'MEG8', 'score': 10.53}, {'connected_gene': 'ENSG00000272444', 'score': 10.41}, {'connected_gene': 'BEGAIN', 'score': 9.75}, {'connected_gene': 'ENSG00000258959', 'score': 9.69}, {'connected_gene': 'MIR1247', 'score': 0.77}, {'connected_gene': 'LOC105370674', 'score': 0.44}, {'connected_gene': 'GC14P103292', 'score': 0.34}]
chr14 GH14I100604 100604280 100606173 0.46 [{'connected_gene': 'MEG3', 'score': 9.11}, {'connected_gene': 'BEGAIN', 'score': 6.65}, {'connected_gene': 'MEG9', 'score': 5.18}, {'connected_gene': 'ENSG00000258576', 'score': 0.37}, {'connected_gene': 'PIR56329', 'score': 0.25}]
chr14 GH14I099594 99594642 99606693 2.73 [{'connected_gene': 'CCDC85C', 'score': 558.0}, {'connected_gene': 'HHIPL1', 'score': 14.29}, {'connected_gene': 'WDR25', 'score': 14.17}, {'connected_gene': 'CCNK', 'score': 12.65}, {'connected_gene': 'ENSG00000247970', 'score': 11.56}, {'connected_gene': 'BEGAIN', 'score': 9.75}, {'connected_gene': 'WARS', 'score': 4.64}, {'connected_gene': 'PIR41630', 'score': 0.77}]
chr14 GH14I100657 100657806 100671215 1.36 [{'connected_gene': 'LOC105370667', 'score': 550.77}, {'connected_gene': 'DLK1', 'score': 17.62}, {'connected_gene': 'WARS', 'score': 10.87}, {'connected_gene': 'WDR25', 'score': 10.87}, {'connected_gene': 'BEGAIN', 'score': 10.85}, {'connected_gene': 'MEG9', 'score': 9.67}, {'connected_gene': 'MIR493', 'score': 9.6}, {'connected_gene': 'MIR337', 'score': 9.6}, {'connected_gene': 'MIR431', 'score': 9.59}, {'connected_gene': 'MIR433', 'score': 9.59}, {'connected_gene': 'MIR127', 'score': 9.59}, {'connected_gene': 'MIR136', 'score': 9.59}, {'connected_gene': 'RTL1', 'score': 9.59}, {'connected_gene': 'LINC00523', 'score': 6.32}]
chr14 GH14I100675 100675747 100683109 1.68 [{'connected_gene': 'ENSG00000258717', 'score': 550.77}, {'connected_gene': 'YY1', 'score': 11.42}, {'connected_gene': 'DLK1', 'score': 6.26}, {'connected_gene': 'BEGAIN', 'score': 5.65}, {'connected_gene': 'LOC105370667', 'score': 0.39}, {'connected_gene': 'LINC00523', 'score': 0.34}]
chr14 GH14I100540 100540097 100540393 0.43 [{'connected_gene': 'GC14M100431', 'score': 550.77}, {'connected_gene': 'ENSG00000259031', 'score': 550.77}, {'connected_gene': 'GC14P103293', 'score': 0.77}, {'connected_gene': 'BEGAIN', 'score': 0.25}]
chr14 GH14I100545 100545144 100545293 0.58 [{'connected_gene': 'ENSG00000259031', 'score': 0.44}, {'connected_gene': 'GC14P103293', 'score': 0.44}, {'connected_gene': 'BEGAIN', 'score': 0.26}]
chr14 GH14I100541 100540524 100540713 0.72 [{'connected_gene': 'ENSG00000259031', 'score': 550.77}, {'connected_gene': 'GC14P103293', 'score': 0.77}, {'connected_gene': 'BEGAIN', 'score': 0.25}]
chr14 GH14I100905 100904444 100904638 0.82 [{'connected_gene': 'GC14P103222', 'score': 550.77}, {'connected_gene': 'RTL1', 'score': 5.62}, {'connected_gene': 'BEGAIN', 'score': 1.2}, {'connected_gene': 'GC14M100899', 'score': 0.44}, {'connected_gene': 'MEG8', 'score': 0.44}, {'connected_gene': 'ENSG00000258399', 'score': 0.2}]

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