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
ENST00000464081 [[43232962, 43233061], [43240407, 43240539], [43240879, 43241150], [43258475, 43258573], [43259271, 43259415], [43260083, 43260164]] [[43232982, 43233061], [43240407, 43240457]]
ENST00000603943 [[43232976, 43233295], [43239216, 43239320], [43240407, 43240539], [43240879, 43241193], [43255466, 43255608]] [[43232982, 43233295], [43239216, 43239233]]
ENST00000536543 [[43232976, 43233295], [43239216, 43239320], [43240407, 43240539], [43240879, 43241193], [43255466, 43255605], [43258475, 43258573], [43259271, 43259415], [43260083, 43260284], [43263768, 43263875]] [[43255468, 43255605], [43258475, 43258573], [43259271, 43259415], [43260083, 43260284], [43263768, 43263875]]
ENST00000372525 [[43232939, 43233061], [43233179, 43233295], [43239233, 43239320], [43240407, 43240539], [43240879, 43241418]] [[43232982, 43233061], [43233179, 43233295], [43239233, 43239320], [43240407, 43240539], [43240879, 43241065]]
ENST00000468913 [[43235348, 43235498], [43239233, 43239320], [43240407, 43240539], [43240879, 43241099]] None
ENST00000494155 [[43238857, 43239320], [43240407, 43240441]] None
ENST00000421630 [[43255479, 43255605], [43258475, 43258573], [43259271, 43259415], [43260083, 43260284], [43263768, 43263968]] [[43255479, 43255605], [43258475, 43258573], [43259271, 43259415], [43260083, 43260284], [43263768, 43263896]]
ENST00000438946 [[43259317, 43259415], [43260083, 43260284], [43263502, 43263628]] [[43259317, 43259415], [43260083, 43260284], [43263502, 43263588]]
ENST00000605272 [[43259335, 43259415], [43260083, 43260284], [43262230, 43262465]] [[43259335, 43259415], [43260083, 43260284], [43262230, 43262445]]
NR_040733 [[43232915, 43233061], [43239233, 43239320], [43240407, 43240539], [43240879, 43241413]] None
NM_024097 [[43232915, 43233061], [43233179, 43233295], [43239233, 43239320], [43240407, 43240539], [43240879, 43241413]] [[43232982, 43233061], [43233179, 43233295], [43239233, 43239320], [43240407, 43240539], [43240879, 43241065]]
Promoter
Chrom Start End Description
chr1 43232913 43232982 CAGE_peak_1_at_C1orf50_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I042737 42737143 42737800 0.63 [{'connected_gene': 'P3H1', 'score': 12.01}, {'connected_gene': 'C1orf50', 'score': 11.58}, {'connected_gene': 'YBX1', 'score': 10.31}, {'connected_gene': 'CLDN19', 'score': 0.77}, {'connected_gene': 'GC01M042732', 'score': 0.39}, {'connected_gene': 'GC01M042747', 'score': 0.39}, {'connected_gene': 'GC01P042719', 'score': 0.37}, {'connected_gene': 'GC01M042733', 'score': 0.2}]
chr1 GH01I042764 42764465 42768436 2.06 [{'connected_gene': 'P3H1', 'score': 557.72}, {'connected_gene': 'C1orf50', 'score': 550.77}, {'connected_gene': 'ENSG00000283580', 'score': 550.77}, {'connected_gene': 'SVBP', 'score': 35.64}, {'connected_gene': 'PPIH', 'score': 29.45}, {'connected_gene': 'SZT2', 'score': 13.26}, {'connected_gene': 'KDM4A-AS1', 'score': 12.44}, {'connected_gene': 'MED8', 'score': 10.21}, {'connected_gene': 'ZNF691', 'score': 6.02}, {'connected_gene': 'GC01M042747', 'score': 0.37}, {'connected_gene': 'GC01M042733', 'score': 0.28}]
chr1 GH01I043090 43090470 43092225 0.38 [{'connected_gene': 'FAM183A', 'score': 18.33}, {'connected_gene': 'RNU6-880P', 'score': 10.54}, {'connected_gene': 'P3H1', 'score': 10.52}, {'connected_gene': 'C1orf50', 'score': 10.52}, {'connected_gene': 'PPIH', 'score': 8.95}, {'connected_gene': 'SZT2', 'score': 8.66}, {'connected_gene': 'ENSG00000277513', 'score': 0.39}, {'connected_gene': 'GC01P043068', 'score': 0.34}]
chr1 GH01I042689 42689711 42694665 0.72 [{'connected_gene': 'SVBP', 'score': 13.78}, {'connected_gene': 'PPIH', 'score': 13.51}, {'connected_gene': 'C1orf50', 'score': 9.99}, {'connected_gene': 'ZMYND12', 'score': 7.0}, {'connected_gene': 'YBX1', 'score': 0.44}, {'connected_gene': 'GC01P042719', 'score': 0.31}]
chr1 GH01I042170 42170541 42176367 1.06 [{'connected_gene': 'FOXJ3', 'score': 6.48}, {'connected_gene': 'C1orf50', 'score': 6.4}, {'connected_gene': 'SVBP', 'score': 4.7}, {'connected_gene': 'RIMKLA', 'score': 4.29}, {'connected_gene': 'GC01P042164', 'score': 0.44}, {'connected_gene': 'GC01M042279', 'score': 0.14}, {'connected_gene': 'PIR49391', 'score': 0.14}]
chr1 GH01I042824 42824340 42826346 1.69 [{'connected_gene': 'ERMAP', 'score': 550.44}, {'connected_gene': 'ZNF691', 'score': 11.13}, {'connected_gene': 'ENSG00000228192', 'score': 11.13}, {'connected_gene': 'P3H1', 'score': 10.1}, {'connected_gene': 'C1orf50', 'score': 10.1}, {'connected_gene': 'KDM4A', 'score': 10.02}, {'connected_gene': 'SVBP', 'score': 9.52}, {'connected_gene': 'SZT2', 'score': 8.94}]
chr1 GH01I042735 42735510 42735659 0.31 [{'connected_gene': 'PPIH', 'score': 16.22}, {'connected_gene': 'P3H1', 'score': 11.99}, {'connected_gene': 'C1orf50', 'score': 11.56}, {'connected_gene': 'YBX1', 'score': 10.32}, {'connected_gene': 'CLDN19', 'score': 0.77}, {'connected_gene': 'GC01M042732', 'score': 0.39}, {'connected_gene': 'GC01M042747', 'score': 0.39}, {'connected_gene': 'GC01P042719', 'score': 0.37}, {'connected_gene': 'GC01M042733', 'score': 0.19}]