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
ENST00000374518 [[43278248, 43278278], [43279809, 43280018], [43280929, 43281120], [43282615, 43282695], [43285770, 43285959], [43287074, 43287217], [43287940, 43288062], [43288404, 43288592], [43289299, 43289439], [43291921, 43292679], [43292869, 43292971], [43293915, 43294073], [43297584, 43297666], [43312046, 43312120], [43312765, 43312942], [43315683, 43315872], [43315955, 43316136], [43316381, 43316440], [43317509, 43317632], [43318565, 43318713], [43319056, 43319232], [43325708, 43325870], [43326313, 43330385]] [[43279842, 43280018], [43280929, 43281120], [43282615, 43282695], [43285770, 43285959], [43287074, 43287217], [43287940, 43288062], [43288404, 43288592], [43289299, 43289439], [43291921, 43292679], [43292869, 43292971], [43293915, 43294073], [43297584, 43297666], [43312046, 43312120], [43312765, 43312942], [43315683, 43315872], [43315955, 43316136], [43316381, 43316440], [43317509, 43317632], [43318565, 43318713], [43319056, 43319232], [43325708, 43325870], [43326313, 43326544]]
NM_014753 [[43277953, 43278278], [43279809, 43280018], [43280929, 43281120], [43282615, 43282695], [43285770, 43285959], [43287074, 43287217], [43287940, 43288062], [43288404, 43288592], [43289299, 43289439], [43291921, 43292679], [43292869, 43292971], [43293915, 43294073], [43297584, 43297666], [43312046, 43312120], [43312765, 43312942], [43315683, 43315872], [43315955, 43316136], [43316381, 43316440], [43317509, 43317632], [43318565, 43318713], [43319056, 43319232], [43325708, 43325870], [43326313, 43330385]] [[43279842, 43280018], [43280929, 43281120], [43282615, 43282695], [43285770, 43285959], [43287074, 43287217], [43287940, 43288062], [43288404, 43288592], [43289299, 43289439], [43291921, 43292679], [43292869, 43292971], [43293915, 43294073], [43297584, 43297666], [43312046, 43312120], [43312765, 43312942], [43315683, 43315872], [43315955, 43316136], [43316381, 43316440], [43317509, 43317632], [43318565, 43318713], [43319056, 43319232], [43325708, 43325870], [43326313, 43326544]]
Promoter
Chrom Start End Description
chr10 43278217 43278262 CAGE_peak_1_at_BMS1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I042781 42781680 42783841 2.14 [{'connected_gene': 'BMS1', 'score': 609.81}, {'connected_gene': 'GC10M042779', 'score': 550.77}, {'connected_gene': 'ZNF32-AS2', 'score': 45.72}, {'connected_gene': 'ENSG00000273008', 'score': 42.03}, {'connected_gene': 'HNRNPF', 'score': 41.87}, {'connected_gene': 'EIF3LP2', 'score': 37.28}, {'connected_gene': 'ZNF32-AS1', 'score': 33.47}, {'connected_gene': 'ZNF37BP', 'score': 30.76}, {'connected_gene': 'ZNF32', 'score': 27.06}, {'connected_gene': 'LOC100130881', 'score': 23.5}, {'connected_gene': 'ZNF239', 'score': 21.23}, {'connected_gene': 'LOC441666', 'score': 15.79}, {'connected_gene': 'ZNF487', 'score': 10.12}, {'connected_gene': 'LINC00839', 'score': 7.02}, {'connected_gene': 'ENSG00000259869', 'score': 6.54}, {'connected_gene': 'GC10M042762', 'score': 0.39}]
chr10 GH10I043572 43572859 43576747 2 [{'connected_gene': 'ZNF239', 'score': 570.17}, {'connected_gene': 'ZNF32-AS2', 'score': 17.66}, {'connected_gene': 'ZNF33B', 'score': 12.49}, {'connected_gene': 'BMS1', 'score': 11.45}, {'connected_gene': 'ZNF32-AS1', 'score': 10.92}, {'connected_gene': 'ZNF487', 'score': 7.27}, {'connected_gene': 'CAP1P2', 'score': 0.29}]
chr10 GH10I042826 42826673 42828022 0.38 [{'connected_gene': 'LOC441666', 'score': 6.93}, {'connected_gene': 'CCNYL2', 'score': 3.9}, {'connected_gene': 'RNU6-885P', 'score': 0.44}, {'connected_gene': 'PIR61313', 'score': 0.44}, {'connected_gene': 'BMS1', 'score': 0.26}]
chr10 GH10I043392 43392519 43410859 2.83 [{'connected_gene': 'HNRNPF', 'score': 590.81}, {'connected_gene': 'EIF3LP2', 'score': 52.89}, {'connected_gene': 'BMS1', 'score': 52.73}, {'connected_gene': 'ZNF32-AS2', 'score': 46.32}, {'connected_gene': 'HNRNPA3P1', 'score': 44.36}, {'connected_gene': 'ZNF37BP', 'score': 34.94}, {'connected_gene': 'ZNF33B', 'score': 32.19}, {'connected_gene': 'ZNF32-AS1', 'score': 31.5}, {'connected_gene': 'ZNF32', 'score': 20.89}, {'connected_gene': 'LOC105378272', 'score': 16.36}, {'connected_gene': 'ENSG00000273008', 'score': 15.39}, {'connected_gene': 'ZNF239', 'score': 13.19}, {'connected_gene': 'RASGEF1A', 'score': 4.7}, {'connected_gene': 'PIR56810', 'score': 0.39}]
chr10 GH10I043385 43384713 43384762 0.92 [{'connected_gene': 'HNRNPF', 'score': 22.88}, {'connected_gene': 'HNRNPA3P1', 'score': 20.46}, {'connected_gene': 'EIF3LP2', 'score': 20.05}, {'connected_gene': 'RASGEF1A', 'score': 11.21}, {'connected_gene': 'BMS1', 'score': 9.65}, {'connected_gene': 'PIR56810', 'score': 0.77}, {'connected_gene': 'FXYD4', 'score': 0.39}]
chr10 GH10I042752 42752944 42755649 1.01 [{'connected_gene': 'LOC283028', 'score': 550.77}, {'connected_gene': 'LOC105378269', 'score': 550.77}, {'connected_gene': 'BMS1', 'score': 12.32}, {'connected_gene': 'ENSG00000259869', 'score': 9.16}]
chr10 GH10I043647 43647193 43649600 1.96 [{'connected_gene': 'LOC105378274', 'score': 550.77}, {'connected_gene': 'ZNF32', 'score': 550.77}, {'connected_gene': 'ZNF32-AS2', 'score': 14.48}, {'connected_gene': 'BMS1', 'score': 12.71}, {'connected_gene': 'ENSG00000273008', 'score': 10.49}, {'connected_gene': 'ZNF32-AS3', 'score': 0.37}, {'connected_gene': 'GC10M043601', 'score': 0.23}]
chr10 GH10I043416 43416508 43422578 2.07 [{'connected_gene': 'LOC105378272', 'score': 566.76}, {'connected_gene': 'GC10P043423', 'score': 550.77}, {'connected_gene': 'BMS1', 'score': 25.25}, {'connected_gene': 'ZNF32-AS2', 'score': 13.27}, {'connected_gene': 'EIF3LP2', 'score': 11.15}, {'connected_gene': 'ZNF33B', 'score': 9.86}, {'connected_gene': 'ZNF239', 'score': 4.36}, {'connected_gene': 'ENSG00000259869', 'score': 4.1}, {'connected_gene': 'HNRNPF', 'score': 1.46}, {'connected_gene': 'CSGALNACT2', 'score': 1.4}, {'connected_gene': 'GC10M043420', 'score': 0.77}, {'connected_gene': 'SNORD3J', 'score': 0.77}]
chr10 GH10I042551 42551638 42553638 1.5 [{'connected_gene': 'ZNF37BP', 'score': 561.03}, {'connected_gene': 'LINC00839', 'score': 22.28}, {'connected_gene': 'ZNF33B', 'score': 14.6}, {'connected_gene': 'BMS1', 'score': 13.34}, {'connected_gene': 'PIR31407', 'score': 0.23}]
chr10 GH10I042815 42815953 42818182 0.38 [{'connected_gene': 'PIR61313', 'score': 550.77}, {'connected_gene': 'LINC00839', 'score': 7.08}, {'connected_gene': 'ENSG00000259869', 'score': 6.44}, {'connected_gene': 'CSGALNACT2', 'score': 4.56}, {'connected_gene': 'GC10M042762', 'score': 0.34}, {'connected_gene': 'BMS1', 'score': 0.29}]
chr10 GH10I042790 42790686 42791440 0.2 [{'connected_gene': 'ENSG00000259869', 'score': 9.08}, {'connected_gene': 'ZNF33B', 'score': 4.03}, {'connected_gene': 'GC10M042762', 'score': 0.77}, {'connected_gene': 'BMS1', 'score': 0.44}]
chr10 GH10I042865 42865777 42867550 0.99 [{'connected_gene': 'GC10P042865', 'score': 550.77}, {'connected_gene': 'ZNF32-AS1', 'score': 16.66}, {'connected_gene': 'ZNF32-AS2', 'score': 14.6}, {'connected_gene': 'ENSG00000273008', 'score': 14.29}, {'connected_gene': 'ZNF37BP', 'score': 11.42}, {'connected_gene': 'ZNF239', 'score': 9.93}, {'connected_gene': 'ENSG00000259869', 'score': 8.88}, {'connected_gene': 'BMS1', 'score': 6.25}, {'connected_gene': 'LOC441666', 'score': 5.69}, {'connected_gene': 'ZNF33B', 'score': 5.1}, {'connected_gene': 'LOC101929445', 'score': 0.77}]
chr10 GH10I043384 43384879 43389493 0.81 [{'connected_gene': 'PIR56810', 'score': 550.77}, {'connected_gene': 'LOC105378272', 'score': 28.85}, {'connected_gene': 'HNRNPF', 'score': 22.88}, {'connected_gene': 'HNRNPA3P1', 'score': 20.46}, {'connected_gene': 'EIF3LP2', 'score': 20.04}, {'connected_gene': 'SNORD3J', 'score': 12.86}, {'connected_gene': 'ZNF487', 'score': 12.81}, {'connected_gene': 'RNU7-193P', 'score': 12.01}, {'connected_gene': 'RASGEF1A', 'score': 11.21}, {'connected_gene': 'BMS1', 'score': 9.65}, {'connected_gene': 'ZNF239', 'score': 4.67}, {'connected_gene': 'FXYD4', 'score': 0.37}]