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
ENST00000451442 [[24943560, 24944658], [24945010, 24945034], [24949527, 24949720], [24950161, 24950296], [24950832, 24951007], [24952095, 24952212], [24954280, 24954373], [24959402, 24959518], [24964538, 24964655], [24973229, 24973278]] [[24944448, 24944658], [24945010, 24945034], [24949527, 24949720], [24950161, 24950296], [24950832, 24951007], [24952095, 24952212], [24954280, 24954373], [24959402, 24959518], [24964538, 24964655], [24973229, 24973278]]
ENST00000217456 [[24943560, 24944658], [24949527, 24949720], [24950161, 24950296], [24950832, 24951007], [24952095, 24952212], [24954280, 24954373], [24959402, 24959518], [24964538, 24964655], [24973229, 24973615]] [[24944448, 24944658], [24949527, 24949720], [24950161, 24950296], [24950832, 24951007], [24952095, 24952212], [24954280, 24954373], [24959402, 24959518], [24964538, 24964655], [24973229, 24973324]]
ENST00000447138 [[24943580, 24944658], [24950161, 24950296], [24950832, 24951007], [24952095, 24952212], [24954280, 24954373], [24959402, 24959518], [24964538, 24964655], [24973229, 24973360]] [[24944636, 24944658], [24950161, 24950296], [24950832, 24951007], [24952095, 24952212], [24954280, 24954373], [24959402, 24959518], [24964538, 24964655], [24973229, 24973324]]
NM_020531 [[24943579, 24944658], [24949527, 24949720], [24950161, 24950296], [24950832, 24951007], [24952095, 24952212], [24954280, 24954373], [24959402, 24959518], [24964538, 24964655], [24973229, 24973425]] [[24944448, 24944658], [24949527, 24949720], [24950161, 24950296], [24950832, 24951007], [24952095, 24952212], [24954280, 24954373], [24959402, 24959518], [24964538, 24964655], [24973229, 24973324]]
Promoter
Chrom Start End Description
chr20 24954277 24954281 CAGE_peak_6_at_C20orf3_5end
chr20 24964628 24964647 CAGE_peak_3_at_C20orf3_5end
chr20 24964780 24964791 CAGE_peak_7_at_C20orf3_5end
chr20 24973265 24973274 CAGE_peak_4_at_C20orf3_5end
chr20 24973318 24973394 CAGE_peak_1_at_C20orf3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I024984 24984401 24986800 0.74 [{'connected_gene': 'CST7', 'score': 19.85}, {'connected_gene': 'ACSS1', 'score': 11.58}, {'connected_gene': 'APMAP', 'score': 7.23}, {'connected_gene': 'VN1R108P', 'score': 5.39}, {'connected_gene': 'VSX1', 'score': 4.39}, {'connected_gene': 'RNU6-1257P', 'score': 0.39}]
chr20 GH20I024948 24948589 24956969 1.91 [{'connected_gene': 'CST7', 'score': 573.09}, {'connected_gene': 'APMAP', 'score': 19.14}, {'connected_gene': 'ACSS1', 'score': 10.78}, {'connected_gene': 'VN1R108P', 'score': 5.63}, {'connected_gene': 'PYGB', 'score': 4.79}, {'connected_gene': 'PIR45392', 'score': 0.39}]
chr20 GH20I025022 25022420 25023512 0.72 [{'connected_gene': 'CST7', 'score': 12.39}, {'connected_gene': 'PIR53263', 'score': 0.37}, {'connected_gene': 'APMAP', 'score': 0.31}, {'connected_gene': 'ACSS1', 'score': 0.28}]
chr20 GH20I025019 25019767 25020288 0.2 [{'connected_gene': 'CST7', 'score': 7.11}, {'connected_gene': 'APMAP', 'score': 6.6}, {'connected_gene': 'PIR53263', 'score': 0.37}, {'connected_gene': 'ACSS1', 'score': 0.28}]
chr20 GH20I025024 25024738 25028196 0.46 [{'connected_gene': 'CST7', 'score': 11.84}, {'connected_gene': 'APMAP', 'score': 6.29}, {'connected_gene': 'PIR53263', 'score': 0.39}, {'connected_gene': 'ACSS1', 'score': 0.29}]
chr20 GH20I024969 24969346 24973202 0.38 [{'connected_gene': 'CST7', 'score': 19.04}, {'connected_gene': 'APMAP', 'score': 7.97}, {'connected_gene': 'VN1R108P', 'score': 5.39}, {'connected_gene': 'GC20P024974', 'score': 0.77}, {'connected_gene': 'PIR45392', 'score': 0.44}]
chr20 GH20I024996 24996762 24997732 0.4 [{'connected_gene': 'CST7', 'score': 14.75}, {'connected_gene': 'APMAP', 'score': 7.13}, {'connected_gene': 'PIR53263', 'score': 0.26}]
chr20 GH20I025000 25000025 25001254 1.22 [{'connected_gene': 'CST7', 'score': 8.08}, {'connected_gene': 'APMAP', 'score': 7.42}, {'connected_gene': 'PIR53263', 'score': 0.28}]
chr20 GH20I024994 24994465 24995514 1.27 [{'connected_gene': 'CST7', 'score': 18.95}, {'connected_gene': 'ZNF337', 'score': 15.75}, {'connected_gene': 'NINL', 'score': 10.09}, {'connected_gene': 'APMAP', 'score': 8.29}, {'connected_gene': 'PIR53263', 'score': 0.26}]
chr20 GH20I025029 25029938 25034673 1.74 [{'connected_gene': 'ACSS1', 'score': 568.29}, {'connected_gene': 'CST7', 'score': 12.29}, {'connected_gene': 'APMAP', 'score': 6.13}, {'connected_gene': 'FAM182B', 'score': 4.75}, {'connected_gene': 'PIR53263', 'score': 0.44}]
chr20 GH20I025013 25013482 25014311 0.2 [{'connected_gene': 'ACSS1', 'score': 12.37}, {'connected_gene': 'CST7', 'score': 10.77}, {'connected_gene': 'APMAP', 'score': 6.12}, {'connected_gene': 'PIR53263', 'score': 0.31}]
chr20 GH20I025006 25005265 25005454 0.66 [{'connected_gene': 'ACSS1', 'score': 12.15}, {'connected_gene': 'CST7', 'score': 8.06}, {'connected_gene': 'APMAP', 'score': 6.39}, {'connected_gene': 'PIR53263', 'score': 0.29}]
chr20 GH20I025005 25005600 25007136 0.2 [{'connected_gene': 'ACSS1', 'score': 12.15}, {'connected_gene': 'CST7', 'score': 10.65}, {'connected_gene': 'APMAP', 'score': 0.39}, {'connected_gene': 'PIR53263', 'score': 0.29}]
chr20 GH20I025007 25007929 25013070 0.65 [{'connected_gene': 'ACSS1', 'score': 12.37}, {'connected_gene': 'CST7', 'score': 12.12}, {'connected_gene': 'APMAP', 'score': 6.63}, {'connected_gene': 'PIR53263', 'score': 0.31}]
chr20 GH20I024977 24977107 24978495 0.56 [{'connected_gene': 'ACSS1', 'score': 10.87}, {'connected_gene': 'PYGB', 'score': 9.62}, {'connected_gene': 'APMAP', 'score': 6.74}, {'connected_gene': 'RNU6-1257P', 'score': 0.77}]
chr20 GH20I024987 24987405 24987554 1.07 [{'connected_gene': 'ACSS1', 'score': 11.58}, {'connected_gene': 'APMAP', 'score': 0.44}, {'connected_gene': 'RNU6-1257P', 'score': 0.39}]
chr20 GH20I024979 24979932 24980617 0.51 [{'connected_gene': 'ACSS1', 'score': 10.55}, {'connected_gene': 'APMAP', 'score': 8.02}, {'connected_gene': 'RNU6-1257P', 'score': 0.44}]
chr20 GH20I024988 24987731 24989054 0.89 [{'connected_gene': 'ACSS1', 'score': 11.58}, {'connected_gene': 'APMAP', 'score': 0.77}, {'connected_gene': 'RNU6-1257P', 'score': 0.39}]
chr20 GH20I025041 25041259 25044799 1.05 [{'connected_gene': 'ACSS1', 'score': 5.12}, {'connected_gene': 'APMAP', 'score': 4.88}, {'connected_gene': 'PIR53263', 'score': 0.77}]
chr20 GH20I024981 24981341 24982827 0.58 [{'connected_gene': 'ACSS1', 'score': 10.55}, {'connected_gene': 'RNU6-1257P', 'score': 0.44}, {'connected_gene': 'APMAP', 'score': 0.39}]
chr20 GH20I024989 24989063 24994234 2.27 [{'connected_gene': 'APMAP', 'score': 558.48}, {'connected_gene': 'CST7', 'score': 19.93}, {'connected_gene': 'ACSS1', 'score': 12.24}, {'connected_gene': 'VN1R108P', 'score': 5.39}, {'connected_gene': 'PYGB', 'score': 4.34}, {'connected_gene': 'RNU6-1257P', 'score': 0.37}]
chr20 GH20I025016 25016389 25019760 1.05 [{'connected_gene': 'APMAP', 'score': 19.25}, {'connected_gene': 'ACSS1', 'score': 12.39}, {'connected_gene': 'CST7', 'score': 10.09}, {'connected_gene': 'PIR53263', 'score': 0.34}]
chr20 GH20I025020 25020310 25021789 0.31 [{'connected_gene': 'APMAP', 'score': 6.76}, {'connected_gene': 'PIR53263', 'score': 0.37}, {'connected_gene': 'ACSS1', 'score': 0.28}]
chr20 GH20I025045 25045201 25045400 0.74 [{'connected_gene': 'APMAP', 'score': 5.17}, {'connected_gene': 'PIR53263', 'score': 0.44}, {'connected_gene': 'ACSS1', 'score': 0.39}]
chr20 GH20I024918 24918034 24918799 0.95 [{'connected_gene': 'APMAP', 'score': 6.55}, {'connected_gene': 'PIR56829', 'score': 0.77}, {'connected_gene': 'ENSG00000231015', 'score': 0.07}]
chr20 GH20I024999 24999600 24999995 0.38 [{'connected_gene': 'APMAP', 'score': 8.22}, {'connected_gene': 'PIR53263', 'score': 0.28}]
chr20 GH20I024998 24998865 24999014 0.4 [{'connected_gene': 'APMAP', 'score': 0.44}, {'connected_gene': 'PIR53263', 'score': 0.26}]
chr20 GH20I024933 24933993 24934771 0.31 [{'connected_gene': 'RNU6-1257P', 'score': 11.85}, {'connected_gene': 'ACSS1', 'score': 10.87}, {'connected_gene': 'APMAP', 'score': 6.58}, {'connected_gene': 'LOC105372578', 'score': 0.44}, {'connected_gene': 'CST7', 'score': 0.39}]
chr20 GH20I024929 24929482 24932760 0.94 [{'connected_gene': 'LOC105372578', 'score': 550.77}, {'connected_gene': 'CST7', 'score': 19.99}, {'connected_gene': 'RNU6-1257P', 'score': 11.84}, {'connected_gene': 'ACSS1', 'score': 10.87}, {'connected_gene': 'APMAP', 'score': 8.38}, {'connected_gene': 'VN1R108P', 'score': 5.41}]
chr20 GH20I024957 24957263 24966432 1.01 [{'connected_gene': 'PIR45392', 'score': 550.77}, {'connected_gene': 'CST7', 'score': 21.89}, {'connected_gene': 'APMAP', 'score': 11.15}, {'connected_gene': 'ACSS1', 'score': 10.79}, {'connected_gene': 'VN1R108P', 'score': 5.43}]
chr20 GH20I025035 25035078 25041194 1.08 [{'connected_gene': 'PIR53263', 'score': 550.77}, {'connected_gene': 'ACSS1', 'score': 17.02}, {'connected_gene': 'CST7', 'score': 6.78}, {'connected_gene': 'APMAP', 'score': 5.86}]
chr20 GH20I024966 24966936 24967310 0.42 [{'connected_gene': 'PIR45392', 'score': 0.77}, {'connected_gene': 'GC20P024974', 'score': 0.44}, {'connected_gene': 'APMAP', 'score': 0.31}]