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
ENST00000261965 [[113139324, 113140465], [113143894, 113144011], [113153358, 113153499], [113158345, 113158477], [113158939, 113159028], [113170753, 113170889], [113173288, 113173357], [113174199, 113174335], [113176633, 113176823], [113181255, 113181364], [113181687, 113181798], [113200012, 113200179], [113201933, 113202066], [113202421, 113202490], [113208370, 113208496], [113209200, 113209319], [113210365, 113210538], [113212509, 113212727], [113213635, 113213713], [113219424, 113219492], [113223465, 113223573], [113242218, 113242481]] [[113140306, 113140465], [113143894, 113144011], [113153358, 113153499], [113158345, 113158477], [113158939, 113159028], [113170753, 113170889], [113173288, 113173357], [113174199, 113174335], [113176633, 113176823], [113181255, 113181364], [113181687, 113181798], [113200012, 113200179], [113201933, 113202066], [113202421, 113202490], [113208370, 113208496], [113209200, 113209319], [113210365, 113210538], [113212509, 113212727], [113213635, 113213713], [113219424, 113219492], [113223465, 113223573], [113242218, 113242294]]
ENST00000469302 [[113140157, 113140465], [113143894, 113144137]] None
ENST00000375669 [[113153122, 113153250], [113153358, 113153499], [113158345, 113158477], [113158939, 113159028], [113170753, 113170889], [113173288, 113173357], [113174199, 113174335], [113176633, 113176823], [113181255, 113181364], [113181687, 113181798], [113200012, 113200179], [113201933, 113202066], [113202421, 113202490], [113208370, 113208496], [113209200, 113209319], [113210365, 113210538], [113212509, 113212727], [113213635, 113213713], [113219424, 113219492], [113223465, 113223573], [113242218, 113242439]] [[113153223, 113153250], [113153358, 113153499], [113158345, 113158477], [113158939, 113159028], [113170753, 113170889], [113173288, 113173357], [113174199, 113174335], [113176633, 113176823], [113181255, 113181364], [113181687, 113181798], [113200012, 113200179], [113201933, 113202066], [113202421, 113202490], [113208370, 113208496], [113209200, 113209319], [113210365, 113210538], [113212509, 113212727], [113213635, 113213713], [113219424, 113219492], [113223465, 113223573], [113242218, 113242294]]
ENST00000462580 [[113176633, 113176823], [113181255, 113181364], [113181687, 113181798], [113200012, 113200517]] None
ENST00000464139 [[113200795, 113202066], [113202421, 113202490], [113208370, 113208496], [113209200, 113209319], [113210365, 113210538], [113212509, 113212727], [113213635, 113213713], [113219424, 113219492], [113223465, 113223573], [113242218, 113242449]] None
ENST00000483532 [[113212509, 113212727], [113213635, 113213713], [113219424, 113219492], [113223465, 113223573], [113238352, 113238475], [113241543, 113241660]] None
NM_006322 [[113139318, 113140465], [113143894, 113144011], [113153358, 113153499], [113158345, 113158477], [113158939, 113159028], [113170753, 113170889], [113173288, 113173357], [113174199, 113174335], [113176633, 113176823], [113181255, 113181364], [113181687, 113181798], [113200012, 113200179], [113201933, 113202066], [113202421, 113202490], [113208370, 113208496], [113209200, 113209319], [113210365, 113210538], [113212509, 113212727], [113213635, 113213713], [113219424, 113219492], [113223465, 113223573], [113242218, 113242499]] [[113140306, 113140465], [113143894, 113144011], [113153358, 113153499], [113158345, 113158477], [113158939, 113159028], [113170753, 113170889], [113173288, 113173357], [113174199, 113174335], [113176633, 113176823], [113181255, 113181364], [113181687, 113181798], [113200012, 113200179], [113201933, 113202066], [113202421, 113202490], [113208370, 113208496], [113209200, 113209319], [113210365, 113210538], [113212509, 113212727], [113213635, 113213713], [113219424, 113219492], [113223465, 113223573], [113242218, 113242294]]
NM_001286277 [[113139318, 113140465], [113143894, 113144011], [113153358, 113153499], [113158345, 113158477], [113158939, 113159028], [113170753, 113170889], [113173288, 113173357], [113174199, 113174335], [113176633, 113176823], [113181255, 113181364], [113181687, 113181798], [113200012, 113200179], [113201933, 113202066], [113202421, 113202490], [113208370, 113208496], [113209200, 113209319], [113210365, 113210538], [113212509, 113212697], [113213635, 113213713], [113219424, 113219492], [113223465, 113223573], [113242218, 113242499]] [[113140306, 113140465], [113143894, 113144011], [113153358, 113153499], [113158345, 113158477], [113158939, 113159028], [113170753, 113170889], [113173288, 113173357], [113174199, 113174335], [113176633, 113176823], [113181255, 113181364], [113181687, 113181798], [113200012, 113200179], [113201933, 113202066], [113202421, 113202490], [113208370, 113208496], [113209200, 113209319], [113210365, 113210538], [113212509, 113212697], [113213635, 113213713], [113219424, 113219492], [113223465, 113223573], [113242218, 113242294]]
NM_001286278 [[113153120, 113153250], [113153358, 113153499], [113158345, 113158477], [113158939, 113159028], [113170753, 113170889], [113173288, 113173357], [113174199, 113174335], [113176633, 113176823], [113181255, 113181364], [113181687, 113181798], [113200012, 113200179], [113201933, 113202066], [113202421, 113202490], [113208370, 113208496], [113209200, 113209319], [113210365, 113210538], [113212509, 113212727], [113213635, 113213713], [113219424, 113219492], [113223465, 113223573], [113242218, 113242499]] [[113153223, 113153250], [113153358, 113153499], [113158345, 113158477], [113158939, 113159028], [113170753, 113170889], [113173288, 113173357], [113174199, 113174335], [113176633, 113176823], [113181255, 113181364], [113181687, 113181798], [113200012, 113200179], [113201933, 113202066], [113202421, 113202490], [113208370, 113208496], [113209200, 113209319], [113210365, 113210538], [113212509, 113212727], [113213635, 113213713], [113219424, 113219492], [113223465, 113223573], [113242218, 113242294]]
NM_001286279 [[113200795, 113202066], [113202421, 113202490], [113208370, 113208496], [113209200, 113209319], [113210365, 113210538], [113212509, 113212727], [113213635, 113213713], [113219424, 113219492], [113223465, 113223573], [113242218, 113242499]] [[113201781, 113202066], [113202421, 113202490], [113208370, 113208496], [113209200, 113209319], [113210365, 113210538], [113212509, 113212727], [113213635, 113213713], [113219424, 113219492], [113223465, 113223573], [113242218, 113242294]]
Promoter
Chrom Start End Description
chr13 113242415 113242424 CAGE_peak_2_at_TUBGCP3_5end
chr13 113242439 113242488 CAGE_peak_1_at_TUBGCP3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I113151 113151745 113155318 1.44 [{'connected_gene': 'PROZ', 'score': 558.01}, {'connected_gene': 'LOC102724474', 'score': 550.77}, {'connected_gene': 'PCID2', 'score': 19.21}, {'connected_gene': 'TUBGCP3', 'score': 16.33}, {'connected_gene': 'F10-AS1', 'score': 10.96}, {'connected_gene': 'KARSP2', 'score': 10.96}, {'connected_gene': 'F10', 'score': 10.91}, {'connected_gene': 'DCUN1D2-AS', 'score': 9.75}, {'connected_gene': 'CUL4A', 'score': 3.29}, {'connected_gene': 'ATP11A', 'score': 1.33}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113583 113583800 113586295 1.95 [{'connected_gene': 'TFDP1', 'score': 550.77}, {'connected_gene': 'CDC16', 'score': 19.17}, {'connected_gene': 'TUBGCP3', 'score': 18.63}, {'connected_gene': 'GRK1', 'score': 13.92}, {'connected_gene': 'PCID2', 'score': 12.39}, {'connected_gene': 'GAS6', 'score': 12.15}, {'connected_gene': 'GAS6-AS1', 'score': 10.32}, {'connected_gene': 'TMCO3', 'score': 9.86}, {'connected_gene': 'PIR60549', 'score': 0.44}]
chr13 GH13I113408 113408736 113412929 1.55 [{'connected_gene': 'UPF3A', 'score': 12.68}, {'connected_gene': 'CDC16', 'score': 11.19}, {'connected_gene': 'ADPRHL1', 'score': 8.51}, {'connected_gene': 'TUBGCP3', 'score': 4.76}, {'connected_gene': 'GRTP1', 'score': 4.68}, {'connected_gene': 'MCF2L', 'score': 1.75}, {'connected_gene': 'LOC101928841', 'score': 0.39}, {'connected_gene': 'PIR34234', 'score': 0.39}, {'connected_gene': 'GC13M113076', 'score': 0.14}]
chr13 GH13I113393 113393189 113394675 1.25 [{'connected_gene': 'PCID2', 'score': 23.55}, {'connected_gene': 'CDC16', 'score': 22.08}, {'connected_gene': 'GRTP1', 'score': 16.38}, {'connected_gene': 'TUBGCP3', 'score': 16.31}, {'connected_gene': 'GRTP1-AS1', 'score': 11.63}, {'connected_gene': 'CUL4A', 'score': 10.52}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.13}, {'connected_gene': 'DCUN1D2', 'score': 10.09}, {'connected_gene': 'RASA3', 'score': 5.33}, {'connected_gene': 'PIR34234', 'score': 0.77}, {'connected_gene': 'GC13M113076', 'score': 0.13}]
chr13 GH13I113206 113206329 113211354 2.33 [{'connected_gene': 'PCID2', 'score': 621.79}, {'connected_gene': 'CUL4A', 'score': 550.77}, {'connected_gene': 'TUBGCP3', 'score': 88.5}, {'connected_gene': 'PROZ', 'score': 26.44}, {'connected_gene': 'GAS6-AS1', 'score': 19.71}, {'connected_gene': 'GAS6', 'score': 12.12}, {'connected_gene': 'LAMP1', 'score': 10.22}, {'connected_gene': 'GC13M113076', 'score': 0.06}]
chr13 GH13I113040 113040539 113041870 1.04 [{'connected_gene': 'PCID2', 'score': 17.53}, {'connected_gene': 'TUBGCP3', 'score': 12.86}, {'connected_gene': 'PIR52168', 'score': 0.29}, {'connected_gene': 'ENSG00000269376', 'score': 0.29}, {'connected_gene': 'MCF2L', 'score': 0.11}]
chr13 GH13I112872 112872444 112875287 1.2 [{'connected_gene': 'PCID2', 'score': 15.25}, {'connected_gene': 'TUBGCP3', 'score': 13.11}, {'connected_gene': 'ATP11A', 'score': 7.49}, {'connected_gene': 'GC13P112885', 'score': 0.39}, {'connected_gene': 'ENSG00000277545', 'score': 0.21}]
chr13 GH13I113005 113005419 113006185 0.69 [{'connected_gene': 'PCID2', 'score': 13.15}, {'connected_gene': 'TUBGCP3', 'score': 11.02}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.29}, {'connected_gene': 'ENSG00000269356', 'score': 0.77}, {'connected_gene': 'MCF2L-AS1', 'score': 0.28}, {'connected_gene': 'MCF2L', 'score': 0.14}]
chr13 GH13I113489 113489103 113496555 2.58 [{'connected_gene': 'TMCO3', 'score': 584.44}, {'connected_gene': 'DCUN1D2', 'score': 556.21}, {'connected_gene': 'TUBGCP3', 'score': 19.83}, {'connected_gene': 'PCID2', 'score': 14.74}, {'connected_gene': 'GRTP1', 'score': 13.18}, {'connected_gene': 'CDC16', 'score': 12.15}, {'connected_gene': 'DCUN1D2-AS', 'score': 11.64}, {'connected_gene': 'ADPRHL1', 'score': 11.09}, {'connected_gene': 'CHAMP1', 'score': 10.19}, {'connected_gene': 'GRTP1-AS1', 'score': 9.92}, {'connected_gene': 'F7', 'score': 6.31}, {'connected_gene': 'F10', 'score': 3.88}, {'connected_gene': 'PROZ', 'score': 2.93}, {'connected_gene': 'ENSG00000276916', 'score': 0.37}, {'connected_gene': 'GC13M113076', 'score': 0.31}]
chr13 GH13I112619 112619847 112619956 0.43 [{'connected_gene': 'ATP11AUN', 'score': 11.9}, {'connected_gene': 'TUBGCP3', 'score': 0.39}]
chr13 GH13I112640 112640586 112641178 1.11 [{'connected_gene': 'ATP11AUN', 'score': 4.81}, {'connected_gene': 'TUBGCP3', 'score': 0.29}]
chr13 GH13I113296 113296400 113298987 2.14 [{'connected_gene': 'LAMP1', 'score': 550.77}, {'connected_gene': 'CDC16', 'score': 76.98}, {'connected_gene': 'PCID2', 'score': 69.41}, {'connected_gene': 'TUBGCP3', 'score': 66.69}, {'connected_gene': 'UPF3A', 'score': 22.46}, {'connected_gene': 'GAS6-AS2', 'score': 12.64}, {'connected_gene': 'GAS6', 'score': 12.12}, {'connected_gene': 'CUL4A', 'score': 11.08}, {'connected_gene': 'GAS6-AS1', 'score': 10.6}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.05}, {'connected_gene': 'GC13P113323', 'score': 0.34}, {'connected_gene': 'PIR60275', 'score': 0.34}, {'connected_gene': 'GC13M113076', 'score': 0.07}]
chr13 GH13I113049 113049731 113050136 0.74 [{'connected_gene': 'MCF2L', 'score': 24.84}, {'connected_gene': 'PCID2', 'score': 16.45}, {'connected_gene': 'TUBGCP3', 'score': 12.67}, {'connected_gene': 'DCUN1D2', 'score': 2.15}, {'connected_gene': 'PIR52168', 'score': 0.31}, {'connected_gene': 'ENSG00000269376', 'score': 0.26}]
chr13 GH13I113026 113026158 113029428 0.6 [{'connected_gene': 'MCF2L', 'score': 20.15}, {'connected_gene': 'PCID2', 'score': 14.52}, {'connected_gene': 'TUBGCP3', 'score': 11.27}, {'connected_gene': 'MCF2L-AS1', 'score': 11.16}, {'connected_gene': 'F10', 'score': 10.7}, {'connected_gene': 'F10-AS1', 'score': 10.7}, {'connected_gene': 'KARSP2', 'score': 10.7}, {'connected_gene': 'PROZ', 'score': 10.11}, {'connected_gene': 'ENSG00000269376', 'score': 0.37}, {'connected_gene': 'PIR52168', 'score': 0.25}]
chr13 GH13I113413 113413188 113414689 1.18 [{'connected_gene': 'RASA3', 'score': 5.14}, {'connected_gene': 'TUBGCP3', 'score': 4.75}, {'connected_gene': 'ADPRHL1', 'score': 1.94}, {'connected_gene': 'LOC101928841', 'score': 0.44}, {'connected_gene': 'PIR34234', 'score': 0.37}, {'connected_gene': 'GC13M113076', 'score': 0.14}]
chr13 GH13I113447 113447894 113450421 2 [{'connected_gene': 'ADPRHL1', 'score': 550.77}, {'connected_gene': 'PCID2', 'score': 27.16}, {'connected_gene': 'TUBGCP3', 'score': 26.71}, {'connected_gene': 'CDC16', 'score': 22.13}, {'connected_gene': 'CHAMP1', 'score': 20.09}, {'connected_gene': 'DCUN1D2', 'score': 16.95}, {'connected_gene': 'TMCO3', 'score': 6.34}, {'connected_gene': 'LOC101928841', 'score': 0.31}, {'connected_gene': 'GC13M113076', 'score': 0.19}]
chr13 GH13I112586 112586418 112589256 2.09 [{'connected_gene': 'TUBGCP3', 'score': 591.46}, {'connected_gene': 'GC13P112588', 'score': 550.77}, {'connected_gene': 'PCID2', 'score': 29.49}, {'connected_gene': 'DCUN1D2-AS', 'score': 9.71}, {'connected_gene': 'GC13P112481', 'score': 0.14}]
chr13 GH13I112603 112603601 112604000 0.46 [{'connected_gene': 'TUBGCP3', 'score': 18.91}, {'connected_gene': 'ATP11AUN', 'score': 11.38}, {'connected_gene': 'ATP11A-AS1', 'score': 10.37}, {'connected_gene': 'MCF2L', 'score': 10.16}, {'connected_gene': 'ENSG00000277159', 'score': 0.77}, {'connected_gene': 'GC13P112588', 'score': 0.37}]
chr13 GH13I112605 112605398 112607076 1.39 [{'connected_gene': 'TUBGCP3', 'score': 565.47}, {'connected_gene': 'ENSG00000277159', 'score': 550.77}, {'connected_gene': 'ATP11AUN', 'score': 11.38}, {'connected_gene': 'ATP11A-AS1', 'score': 10.38}, {'connected_gene': 'MCF2L', 'score': 10.16}, {'connected_gene': 'GC13P112588', 'score': 0.37}]
chr13 GH13I112928 112928230 112932434 1.64 [{'connected_gene': 'TUBGCP3', 'score': 6.06}, {'connected_gene': 'MCF2L', 'score': 5.83}, {'connected_gene': 'ENSG00000267868', 'score': 5.31}, {'connected_gene': 'ATP11A', 'score': 5.2}, {'connected_gene': 'CUL4A', 'score': 3.46}, {'connected_gene': 'GC13P112922', 'score': 0.44}]
chr13 GH13I112078 112078967 112079176 0.7 [{'connected_gene': 'TUBGCP3', 'score': 25.3}, {'connected_gene': 'ENSG00000260385', 'score': 0.77}, {'connected_gene': 'GC13P112069', 'score': 0.39}, {'connected_gene': 'SOX1-OT', 'score': 0.14}]
chr13 GH13I112079 112079187 112079516 0.67 [{'connected_gene': 'TUBGCP3', 'score': 10.81}, {'connected_gene': 'ENSG00000260385', 'score': 0.77}, {'connected_gene': 'GC13P112069', 'score': 0.39}, {'connected_gene': 'SOX1-OT', 'score': 0.14}]
chr13 GH13I112573 112573586 112576199 0.66 [{'connected_gene': 'TUBGCP3', 'score': 22.69}, {'connected_gene': 'GC13P112588', 'score': 0.39}, {'connected_gene': 'GC13P112481', 'score': 0.16}]
chr13 GH13I112545 112545478 112546720 0.31 [{'connected_gene': 'TUBGCP3', 'score': 14.17}, {'connected_gene': 'GC13P112588', 'score': 0.26}, {'connected_gene': 'GC13P112481', 'score': 0.21}]
chr13 GH13I112525 112525671 112526059 0.43 [{'connected_gene': 'TUBGCP3', 'score': 13.01}, {'connected_gene': 'GC13P112481', 'score': 0.26}, {'connected_gene': 'GC13P112588', 'score': 0.21}]
chr13 GH13I112582 112582271 112584400 0.87 [{'connected_gene': 'TUBGCP3', 'score': 18.81}, {'connected_gene': 'GC13P112588', 'score': 0.77}, {'connected_gene': 'GC13P112481', 'score': 0.15}]
chr13 GH13I112158 112158899 112163689 0.8 [{'connected_gene': 'LOC100506016', 'score': 550.77}, {'connected_gene': 'TUBGCP3', 'score': 5.37}, {'connected_gene': 'LOC105370370', 'score': 0.29}]
chr13 GH13I112510 112510127 112510296 0.46 [{'connected_gene': 'GC13P112481', 'score': 0.31}, {'connected_gene': 'GC13P112588', 'score': 0.18}, {'connected_gene': 'TUBGCP3', 'score': 0.15}]
chr13 GH13I112585 112585401 112585600 0.38 [{'connected_gene': 'GC13P112588', 'score': 0.77}, {'connected_gene': 'TUBGCP3', 'score': 0.34}, {'connected_gene': 'GC13P112481', 'score': 0.15}]
chr13 GH13I112486 112486217 112487307 0.31 [{'connected_gene': 'GC13P112481', 'score': 0.77}, {'connected_gene': 'GC13P112588', 'score': 0.15}, {'connected_gene': 'TUBGCP3', 'score': 0.13}]

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