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
ENST00000355854 [[49882785, 49885129], [49906082, 49906226], [49913812, 49913878], [49918314, 49918374], [49924879, 49925048], [49933849, 49933968], [49951102, 49951267], [49956935, 49957077], [49975268, 49975735]] [[49884949, 49885129], [49906082, 49906226], [49913812, 49913878], [49918314, 49918374], [49924879, 49925048], [49933849, 49933968], [49951102, 49951267], [49956935, 49957046]]
ENST00000347776 [[49882788, 49885129], [49906082, 49906226], [49913812, 49913878], [49918314, 49918374], [49924879, 49925048], [49933849, 49933968], [49951102, 49951267], [49956935, 49957079], [50008147, 50008359], [50018121, 50018221]] [[49884949, 49885129], [49906082, 49906226], [49913812, 49913878], [49918314, 49918374], [49924879, 49925048], [49933849, 49933968], [49951102, 49951267], [49956935, 49957046]]
ENST00000409308 [[49883933, 49885129], [49906082, 49906226], [49913812, 49913878], [49918314, 49918374], [49924879, 49925048], [49933849, 49933968], [49951102, 49951267], [49956935, 49957077], [50007453, 50007529], [50008221, 50008359], [50018121, 50018262]] [[49884949, 49885129], [49906082, 49906226], [49913812, 49913878], [49918314, 49918374], [49924879, 49925048], [49933849, 49933968], [49951102, 49951267], [49956935, 49957046]]
ENST00000425242 [[49884757, 49885129], [49906082, 49906226], [49913812, 49913878], [49924879, 49925048], [49933849, 49933968], [49951102, 49951267]] [[49884949, 49885129], [49906082, 49906226], [49913812, 49913878], [49924879, 49925048], [49933849, 49933968], [49951102, 49951267]]
ENST00000410043 [[49884787, 49885129], [49906082, 49906226], [49913812, 49913878], [49918314, 49918374], [49924879, 49925048], [49933849, 49933968], [49951102, 49951267], [49956935, 49957077], [49975268, 49975406], [50007453, 50007529], [50008221, 50008359], [50018121, 50018189]] [[49884949, 49885129], [49906082, 49906226], [49913812, 49913878], [49918314, 49918374], [49924879, 49925048], [49933849, 49933968], [49951102, 49951267], [49956935, 49957046]]
ENST00000457041 [[49924878, 49925048], [49933849, 49933968], [49951102, 49951267], [49956935, 49957077], [49975530, 49975661]] [[49924878, 49925048], [49933849, 49933968], [49951102, 49951267], [49956935, 49957046]]
ENST00000413278 [[49933859, 49933968], [49951102, 49951267], [49956935, 49957077], [49967148, 49967215], [49994461, 49994611]] [[49933859, 49933968], [49951102, 49951267], [49956935, 49957046]]
ENST00000409130 [[49884264, 49885129], [49906082, 49906226], [49913812, 49913878], [49918314, 49918374], [49924879, 49925048], [49925156, 49925263]] [[49884949, 49885129], [49906082, 49906226], [49913812, 49913878], [49918314, 49918374], [49924879, 49925011]]
ENST00000409082 [[49951098, 49951267], [49956935, 49957077], [49987047, 49987176], [49987859, 49987887]] [[49951098, 49951267], [49956935, 49957046]]
ENST00000476943 [[49956642, 49957077], [49975268, 49975406], [49975530, 49975723], [49987047, 49987176]] None
ENST00000470410 [[49975631, 49975723], [49988139, 49988335], [50007453, 50007529], [50008221, 50008359], [50018121, 50018200]] None
NM_030925 [[49882785, 49885129], [49906082, 49906226], [49913812, 49913878], [49918314, 49918374], [49924879, 49925048], [49933849, 49933968], [49951102, 49951267], [49956935, 49957077], [49975268, 49975674]] [[49884949, 49885129], [49906082, 49906226], [49913812, 49913878], [49918314, 49918374], [49924879, 49925048], [49933849, 49933968], [49951102, 49951267], [49956935, 49957046]]
NM_001287338 [[49882785, 49885129], [49906082, 49906226], [49913812, 49913878], [49918314, 49918374], [49924879, 49925048], [49933849, 49933968], [49951102, 49951267], [49956935, 49957077], [49975268, 49975406], [49975530, 49975723], [49987047, 49987176], [49987859, 49987887]] [[49884949, 49885129], [49906082, 49906226], [49913812, 49913878], [49918314, 49918374], [49924879, 49925048], [49933849, 49933968], [49951102, 49951267], [49956935, 49957046]]
NM_001287339 [[49882785, 49885129], [49906082, 49906226], [49913812, 49913878], [49918314, 49918374], [49924879, 49925048], [49933849, 49933968], [49951102, 49951267], [49956935, 49957077], [49987047, 49987176], [49987859, 49987887]] [[49884949, 49885129], [49906082, 49906226], [49913812, 49913878], [49918314, 49918374], [49924879, 49925048], [49933849, 49933968], [49951102, 49951267], [49956935, 49957046]]
NM_001287337 [[49882785, 49885129], [49906082, 49906226], [49913812, 49913878], [49918314, 49918374], [49924879, 49925048], [49933849, 49933968], [49951102, 49951267], [49956935, 49957077], [49975268, 49975406], [50007453, 50007529], [50008221, 50008359], [50018121, 50018262]] [[49884949, 49885129], [49906082, 49906226], [49913812, 49913878], [49918314, 49918374], [49924879, 49925048], [49933849, 49933968], [49951102, 49951267], [49956935, 49957046]]
NM_001079670 [[49882785, 49885129], [49906082, 49906226], [49913812, 49913878], [49918314, 49918374], [49924879, 49925048], [49933849, 49933968], [49951102, 49951267], [49956935, 49957077], [50007453, 50007529], [50008221, 50008359], [50018121, 50018262]] [[49884949, 49885129], [49906082, 49906226], [49913812, 49913878], [49918314, 49918374], [49924879, 49925048], [49933849, 49933968], [49951102, 49951267], [49956935, 49957046]]
Promoter
Chrom Start End Description
chr13 49975421 49975435 CAGE_peak_10_at_CAB39L_5end
chr13 49975473 49975535 CAGE_peak_4_at_CAB39L_5end
chr13 49975564 49975588 CAGE_peak_7_at_CAB39L_5end
chr13 49975590 49975605 CAGE_peak_8_at_CAB39L_5end
chr13 49975606 49975627 CAGE_peak_5_at_CAB39L_5end
chr13 49975632 49975694 CAGE_peak_2_at_CAB39L_5end
chr13 49987885 49987896 CAGE_peak_14_at_CAB39L_5end
chr13 50018140 50018212 CAGE_peak_1_at_CAB39L_5end
chr13 50018241 50018277 CAGE_peak_3_at_CAB39L_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I049442 49442897 49448355 2.47 [{'connected_gene': 'SETDB2', 'score': 562.96}, {'connected_gene': 'CAB39L', 'score': 561.63}, {'connected_gene': 'PHF11', 'score': 23.78}, {'connected_gene': 'ARL11', 'score': 10.83}, {'connected_gene': 'EBPL', 'score': 6.37}, {'connected_gene': 'SNRPGP14', 'score': 0.26}, {'connected_gene': 'GC13P049390', 'score': 0.22}]
chr13 GH13I049448 49448401 49448600 0.4 [{'connected_gene': 'SETDB2', 'score': 0.77}, {'connected_gene': 'CAB39L', 'score': 0.77}, {'connected_gene': 'SNRPGP14', 'score': 0.26}, {'connected_gene': 'GC13P049390', 'score': 0.22}]
chr13 GH13I049451 49451571 49451630 0.5 [{'connected_gene': 'SETDB2', 'score': 550.44}, {'connected_gene': 'PHF11', 'score': 11.45}, {'connected_gene': 'CAB39L', 'score': 0.44}, {'connected_gene': 'SNRPGP14', 'score': 0.28}, {'connected_gene': 'GC13P049390', 'score': 0.21}]
chr13 GH13I049453 49453294 49455321 0.92 [{'connected_gene': 'SETDB2', 'score': 14.8}, {'connected_gene': 'PHF11', 'score': 11.45}, {'connected_gene': 'KPNA3', 'score': 9.36}, {'connected_gene': 'RCBTB1', 'score': 4.85}, {'connected_gene': 'CAB39L', 'score': 0.39}, {'connected_gene': 'SNRPGP14', 'score': 0.29}, {'connected_gene': 'GC13P049390', 'score': 0.21}]
chr13 GH13I049465 49465905 49467186 0.76 [{'connected_gene': 'SETDB2', 'score': 13.79}, {'connected_gene': 'PHF11', 'score': 11.34}, {'connected_gene': 'SNRPGP14', 'score': 0.34}, {'connected_gene': 'CAB39L', 'score': 0.34}, {'connected_gene': 'GC13P049390', 'score': 0.18}]
chr13 GH13I049041 49041811 49042204 0.22 [{'connected_gene': 'SETDB2', 'score': 3.18}, {'connected_gene': 'FNDC3A', 'score': 3.01}, {'connected_gene': 'PHF11', 'score': 2.79}, {'connected_gene': 'CAB39L', 'score': 1.38}, {'connected_gene': 'RAD17P2', 'score': 0.77}, {'connected_gene': 'RNU6-60P', 'score': 0.23}]
chr13 GH13I049435 49435788 49437085 0.49 [{'connected_gene': 'SETDB2', 'score': 14.17}, {'connected_gene': 'ARL11', 'score': 4.51}, {'connected_gene': 'CAB39L', 'score': 0.44}, {'connected_gene': 'GC13P049413', 'score': 0.34}, {'connected_gene': 'GC13P049390', 'score': 0.25}]
chr13 GH13I049292 49292345 49293390 0.84 [{'connected_gene': 'SETDB2', 'score': 29.13}, {'connected_gene': 'TRIM13', 'score': 10.91}, {'connected_gene': 'CDADC1', 'score': 10.63}, {'connected_gene': 'CAB39L', 'score': 4.29}, {'connected_gene': 'GC13P049296', 'score': 0.77}, {'connected_gene': 'GC13M049248', 'score': 0.26}]
chr13 GH13I049400 49400932 49402134 1.66 [{'connected_gene': 'CAB39L', 'score': 554.78}, {'connected_gene': 'PHF11', 'score': 11.0}, {'connected_gene': 'MLNR', 'score': 10.89}, {'connected_gene': 'GC13P049413', 'score': 0.39}, {'connected_gene': 'GC13P049390', 'score': 0.39}]
chr13 GH13I049240 49240238 49240370 0.57 [{'connected_gene': 'CAB39L', 'score': 2.03}, {'connected_gene': 'MLNR', 'score': 1.62}, {'connected_gene': 'GC13P049237', 'score': 0.77}, {'connected_gene': 'LOC105370203', 'score': 0.44}]
chr13 GH13I049329 49329956 49330233 0.2 [{'connected_gene': 'CAB39L', 'score': 12.68}, {'connected_gene': 'GC13P049296', 'score': 0.29}, {'connected_gene': 'GC13P049390', 'score': 0.21}]
chr13 GH13I049352 49352065 49352214 0.31 [{'connected_gene': 'CAB39L', 'score': 9.52}, {'connected_gene': 'GC13P049390', 'score': 0.28}, {'connected_gene': 'GC13P049296', 'score': 0.22}]
chr13 GH13I048937 48937773 48939698 0.74 [{'connected_gene': 'CAB39L', 'score': 4.95}, {'connected_gene': 'GC13M048972', 'score': 0.28}, {'connected_gene': 'GC13P048866', 'score': 0.19}]
chr13 GH13I049313 49313355 49315473 1.54 [{'connected_gene': 'CAB39L', 'score': 9.37}, {'connected_gene': 'GC13P049296', 'score': 0.37}, {'connected_gene': 'GC13P049390', 'score': 0.18}]
chr13 GH13I049307 49307179 49309505 1.06 [{'connected_gene': 'CAB39L', 'score': 8.11}, {'connected_gene': 'GC13P049296', 'score': 0.39}, {'connected_gene': 'GC13P049390', 'score': 0.18}]
chr13 GH13I049355 49355308 49358344 0.58 [{'connected_gene': 'CAB39L', 'score': 8.26}, {'connected_gene': 'GC13P049390', 'score': 0.29}, {'connected_gene': 'GC13P049296', 'score': 0.21}]
chr13 GH13I049302 49302361 49303326 0.2 [{'connected_gene': 'CDADC1', 'score': 10.51}, {'connected_gene': 'CAB39L', 'score': 8.61}, {'connected_gene': 'GC13P049296', 'score': 0.44}, {'connected_gene': 'GC13P049390', 'score': 0.17}]
chr13 GH13I049303 49303625 49304167 0.83 [{'connected_gene': 'CDADC1', 'score': 10.5}, {'connected_gene': 'CAB39L', 'score': 8.61}, {'connected_gene': 'GC13P049296', 'score': 0.44}, {'connected_gene': 'GC13P049390', 'score': 0.17}]
chr13 GH13I049319 49319317 49321731 0.51 [{'connected_gene': 'CDADC1', 'score': 10.04}, {'connected_gene': 'GC13P049296', 'score': 0.34}, {'connected_gene': 'GC13P049390', 'score': 0.2}, {'connected_gene': 'CAB39L', 'score': 0.13}]
chr13 GH13I049309 49309847 49310477 0.2 [{'connected_gene': 'CDADC1', 'score': 10.31}, {'connected_gene': 'GC13P049296', 'score': 0.39}, {'connected_gene': 'GC13P049390', 'score': 0.18}, {'connected_gene': 'CAB39L', 'score': 0.12}]
chr13 GH13I049277 49277785 49278750 0.31 [{'connected_gene': 'CDADC1', 'score': 23.24}, {'connected_gene': 'MLNR', 'score': 12.95}, {'connected_gene': 'CAB39L', 'score': 8.47}, {'connected_gene': 'GC13P049296', 'score': 0.37}, {'connected_gene': 'GC13M049248', 'score': 0.31}]
chr13 GH13I049247 49247141 49249422 2.21 [{'connected_gene': 'CDADC1', 'score': 550.77}, {'connected_gene': 'LOC105370203', 'score': 550.77}, {'connected_gene': 'CAB39L', 'score': 8.83}, {'connected_gene': 'GC13M049248', 'score': 0.77}, {'connected_gene': 'GC13M049249', 'score': 0.77}]
chr13 GH13I048971 48971710 48971716 0.22 [{'connected_gene': 'CYSLTR2', 'score': 6.4}, {'connected_gene': 'CAB39L', 'score': 2.33}, {'connected_gene': 'MLNR', 'score': 1.92}, {'connected_gene': 'GC13M048972', 'score': 0.77}, {'connected_gene': 'GC13P048866', 'score': 0.15}]
chr13 GH13I049634 49634991 49636670 0.91 [{'connected_gene': 'RCBTB1', 'score': 13.42}, {'connected_gene': 'EBPL', 'score': 4.56}, {'connected_gene': 'CAB39L', 'score': 4.2}, {'connected_gene': 'ARL11', 'score': 1.64}, {'connected_gene': 'SETDB2', 'score': 1.23}, {'connected_gene': 'LOC105370205', 'score': 0.77}]
chr13 GH13I049520 49520055 49520336 0.42 [{'connected_gene': 'PHF11', 'score': 26.48}, {'connected_gene': 'CAB39L', 'score': 2.3}, {'connected_gene': 'SETDB2', 'score': 1.32}, {'connected_gene': 'RCBTB1', 'score': 0.2}, {'connected_gene': 'GC13P049390', 'score': 0.13}]
chr13 GH13I049418 49418755 49419601 0.58 [{'connected_gene': 'PHF11', 'score': 6.1}, {'connected_gene': 'RCBTB1', 'score': 4.4}, {'connected_gene': 'GC13P049413', 'score': 0.44}, {'connected_gene': 'SETDB2', 'score': 0.34}, {'connected_gene': 'CAB39L', 'score': 0.34}, {'connected_gene': 'GC13P049390', 'score': 0.31}]
chr13 GH13I049640 49640976 49644200 1.31 [{'connected_gene': 'PHF11', 'score': 20.79}, {'connected_gene': 'RCBTB1', 'score': 13.03}, {'connected_gene': 'ARL11', 'score': 12.88}, {'connected_gene': 'EBPL', 'score': 11.77}, {'connected_gene': 'KPNA3', 'score': 10.65}, {'connected_gene': 'SETDB2', 'score': 10.26}, {'connected_gene': 'CAB39L', 'score': 4.77}, {'connected_gene': 'LOC105370205', 'score': 0.77}, {'connected_gene': 'GC13M049652', 'score': 0.39}]
chr13 GH13I050026 50026794 50027583 0.77 [{'connected_gene': 'MIR16-1', 'score': 12.03}, {'connected_gene': 'CAB39L', 'score': 4.24}, {'connected_gene': 'GC13M050020', 'score': 0.44}, {'connected_gene': 'KCNRG', 'score': 0.39}, {'connected_gene': 'DLEU2', 'score': 0.15}]
chr13 GH13I049257 49257601 49258950 0.6 [{'connected_gene': 'MLNR', 'score': 11.93}, {'connected_gene': 'CAB39L', 'score': 8.44}, {'connected_gene': 'GC13M049248', 'score': 0.44}, {'connected_gene': 'CDADC1', 'score': 0.39}, {'connected_gene': 'GC13P049296', 'score': 0.28}]
chr13 GH13I049627 49627772 49630549 1.8 [{'connected_gene': 'ARL11', 'score': 563.09}, {'connected_gene': 'RCBTB1', 'score': 10.22}, {'connected_gene': 'PHF11', 'score': 7.91}, {'connected_gene': 'CAB39L', 'score': 4.47}, {'connected_gene': 'LOC105370205', 'score': 0.39}]
chr13 GH13I049371 49371985 49372194 0.76 [{'connected_gene': 'TRIM13', 'score': 10.98}, {'connected_gene': 'SETDB2', 'score': 10.23}, {'connected_gene': 'KCNRG', 'score': 10.18}, {'connected_gene': 'GC13P049390', 'score': 0.37}, {'connected_gene': 'CAB39L', 'score': 0.19}, {'connected_gene': 'GC13P049296', 'score': 0.18}]
chr13 GH13I049413 49413741 49413800 0.61 [{'connected_gene': 'GC13P049413', 'score': 550.77}, {'connected_gene': 'CAB39L', 'score': 550.29}, {'connected_gene': 'GC13P049390', 'score': 0.34}, {'connected_gene': 'SETDB2', 'score': 0.29}]
chr13 GH13I049348 49348557 49349094 0.31 [{'connected_gene': 'GC13P049390', 'score': 0.26}, {'connected_gene': 'GC13P049296', 'score': 0.23}, {'connected_gene': 'CAB39L', 'score': 0.15}]
chr13 GH13I049374 49374600 49374801 0.7 [{'connected_gene': 'GC13P049390', 'score': 0.37}, {'connected_gene': 'CAB39L', 'score': 0.2}, {'connected_gene': 'GC13P049296', 'score': 0.18}]
chr13 GH13I049395 49395505 49395694 0.2 [{'connected_gene': 'GC13P049390', 'score': 0.44}, {'connected_gene': 'GC13P049413', 'score': 0.37}, {'connected_gene': 'CAB39L', 'score': 0.25}]
chr13 GH13I049295 49295098 49296024 0.2 [{'connected_gene': 'GC13P049296', 'score': 550.77}, {'connected_gene': 'CDADC1', 'score': 10.33}, {'connected_gene': 'CAB39L', 'score': 9.24}, {'connected_gene': 'GC13M049248', 'score': 0.26}]

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