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
ENST00000530608 [[77811981, 77812241], [77815025, 77815098], [77815401, 77815499], [77817852, 77817958], [77823695, 77823816], [77824931, 77824987]] [[77812009, 77812241], [77815025, 77815098], [77815401, 77815499], [77817852, 77817958], [77823695, 77823816], [77824931, 77824987]]
ENST00000299626 [[77811987, 77812241], [77815025, 77815098], [77815401, 77815499], [77817852, 77817992], [77820487, 77820627], [77823695, 77823816], [77824931, 77825035], [77825311, 77825438], [77830227, 77830295], [77832110, 77832220], [77835066, 77835260], [77838403, 77838482], [77850539, 77850706]] [[77812009, 77812241], [77815025, 77815098], [77815401, 77815499], [77817852, 77817992], [77820487, 77820627], [77823695, 77823816], [77824931, 77825035], [77825311, 77825438], [77830227, 77830295], [77832110, 77832220], [77835066, 77835260], [77838403, 77838482], [77850539, 77850634]]
ENST00000525783 [[77811990, 77812241], [77820487, 77820627], [77823695, 77823797]] [[77812220, 77812241], [77820487, 77820627], [77823695, 77823797]]
ENST00000531213 [[77811991, 77812241], [77815025, 77815098], [77815401, 77815595]] None
ENST00000526849 [[77811991, 77812241], [77815025, 77815098], [77815401, 77815499], [77817852, 77817958], [77820487, 77820572]] [[77812009, 77812241], [77815025, 77815098], [77815401, 77815499], [77817852, 77817958], [77820487, 77820572]]
ENST00000376156 [[77811992, 77812241], [77813919, 77813994], [77815025, 77815098], [77815401, 77815499], [77817852, 77817992], [77820487, 77820627], [77823695, 77823816], [77824931, 77825035], [77825311, 77825438], [77830227, 77830295], [77832110, 77832220], [77835066, 77835260], [77838403, 77838482], [77850539, 77850638]] [[77813939, 77813994], [77815025, 77815098], [77815401, 77815499], [77817852, 77817992], [77820487, 77820627], [77823695, 77823816], [77824931, 77825035], [77825311, 77825438], [77830227, 77830295], [77832110, 77832220], [77835066, 77835260], [77838403, 77838482], [77850539, 77850634]]
ENST00000526737 [[77812011, 77812241], [77815025, 77815098], [77815401, 77815499], [77817852, 77817992], [77820487, 77820627], [77823695, 77823816], [77824931, 77825035], [77825311, 77825438], [77830227, 77830295], [77832110, 77832254], [77835066, 77835260], [77838403, 77838482], [77850539, 77850695]] [[77832220, 77832254], [77835066, 77835260], [77838403, 77838482], [77850539, 77850634]]
ENST00000532306 [[77812106, 77812241], [77815025, 77815098], [77815401, 77815499], [77817852, 77817992], [77824931, 77825035], [77825311, 77825438], [77830227, 77830295], [77832110, 77832209]] [[77812106, 77812241], [77815025, 77815098], [77815401, 77815499], [77817852, 77817992], [77824931, 77825035], [77825311, 77825438], [77830227, 77830295], [77832110, 77832209]]
ENST00000532552 [[77812209, 77812241], [77814432, 77814507], [77815025, 77815098], [77815401, 77815499], [77817852, 77817958], [77820487, 77820627], [77850539, 77850660]] None
ENST00000532440 [[77817852, 77817992], [77818762, 77818810], [77820487, 77820627], [77823695, 77823816], [77824931, 77825035], [77825311, 77825438]] [[77817852, 77817992], [77818762, 77818810], [77820487, 77820627], [77823695, 77823816], [77824931, 77825035], [77825311, 77825438]]
ENST00000524925 [[77817855, 77817992], [77823695, 77823816], [77824931, 77825035], [77825311, 77825422]] None
ENST00000529139 [[77823425, 77823816], [77824931, 77825035], [77825311, 77825438], [77830227, 77830295], [77832110, 77832122]] [[77823654, 77823816], [77824931, 77825035], [77825311, 77825438], [77830227, 77830295], [77832110, 77832122]]
ENST00000525755 [[77823712, 77823816], [77824931, 77825035], [77825311, 77825438], [77830227, 77830295], [77832110, 77832220], [77835066, 77835260], [77850539, 77850670]] [[77823712, 77823816], [77824931, 77825035], [77825311, 77825438], [77830227, 77830295], [77832110, 77832220], [77835066, 77835260], [77850539, 77850560]]
ENST00000530454 [[77823749, 77823816], [77824931, 77825035], [77825311, 77825438], [77830227, 77830295], [77832110, 77832220], [77835066, 77835260], [77838403, 77838485], [77850539, 77850668]] [[77823749, 77823816], [77824931, 77825035], [77825311, 77825438], [77830227, 77830295], [77832110, 77832220], [77835066, 77835260], [77838403, 77838485], [77850539, 77850634]]
ENST00000525870 [[77823811, 77823816], [77824931, 77825035], [77825311, 77825438], [77830227, 77830295], [77832110, 77832220], [77835066, 77835260], [77838403, 77838482], [77850574, 77850665]] [[77823811, 77823816], [77824931, 77825035], [77825311, 77825438], [77830227, 77830295], [77832110, 77832220], [77835066, 77835170]]
ENST00000532050 [[77824945, 77825035], [77825311, 77825438], [77825749, 77825844], [77830227, 77830295], [77832110, 77832220], [77835066, 77835260], [77838403, 77838482], [77850539, 77850668]] [[77825368, 77825438], [77825749, 77825844], [77830227, 77830295], [77832110, 77832220], [77835066, 77835260], [77838403, 77838482], [77850539, 77850634]]
ENST00000527099 [[77825311, 77825438], [77830227, 77830295], [77832110, 77832220], [77835066, 77835260], [77838403, 77838482], [77846275, 77846393], [77850539, 77850672]] [[77825311, 77825438], [77830227, 77830295], [77832110, 77832220], [77835066, 77835170]]
ENST00000530910 [[77832182, 77832220], [77835066, 77835260], [77838403, 77838482], [77849755, 77850304]] [[77832182, 77832220], [77835066, 77835260], [77838403, 77838482], [77849755, 77849823]]
ENST00000525761 [[77835065, 77835260], [77838403, 77838482], [77849755, 77849813], [77850539, 77850676]] [[77835065, 77835260], [77838403, 77838482], [77849755, 77849772]]
ENST00000526928 [[77846334, 77846393], [77848287, 77848691], [77850539, 77850690]] None
NM_001007027 [[77811987, 77812241], [77813919, 77813994], [77815025, 77815098], [77815401, 77815499], [77817852, 77817992], [77820487, 77820627], [77823695, 77823816], [77824931, 77825035], [77825311, 77825438], [77830227, 77830295], [77832110, 77832220], [77835066, 77835260], [77838403, 77838482], [77850539, 77850699]] [[77813939, 77813994], [77815025, 77815098], [77815401, 77815499], [77817852, 77817992], [77820487, 77820627], [77823695, 77823816], [77824931, 77825035], [77825311, 77825438], [77830227, 77830295], [77832110, 77832220], [77835066, 77835260], [77838403, 77838482], [77850539, 77850634]]
NM_024079 [[77811987, 77812241], [77815025, 77815098], [77815401, 77815499], [77817852, 77817992], [77820487, 77820627], [77823695, 77823816], [77824931, 77825035], [77825311, 77825438], [77830227, 77830295], [77832110, 77832220], [77835066, 77835260], [77838403, 77838482], [77850539, 77850699]] [[77812009, 77812241], [77815025, 77815098], [77815401, 77815499], [77817852, 77817992], [77820487, 77820627], [77823695, 77823816], [77824931, 77825035], [77825311, 77825438], [77830227, 77830295], [77832110, 77832220], [77835066, 77835260], [77838403, 77838482], [77850539, 77850634]]
Promoter
Chrom Start End Description
chr11 77850629 77850686 CAGE_peak_1_at_ALG8_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I078036 78036506 78042144 1.53 [{'connected_gene': 'INTS4', 'score': 65.37}, {'connected_gene': 'LOC101928865', 'score': 61.88}, {'connected_gene': 'RPL21P95', 'score': 59.73}, {'connected_gene': 'ENSG00000255449', 'score': 45.16}, {'connected_gene': 'KCTD21-AS1', 'score': 41.02}, {'connected_gene': 'NDUFC2', 'score': 7.72}, {'connected_gene': 'ALG8', 'score': 6.76}, {'connected_gene': 'KCTD14', 'score': 0.44}, {'connected_gene': 'ENSG00000254675', 'score': 0.37}, {'connected_gene': 'NDUFC2-KCTD14', 'score': 0.26}]
chr11 GH11I078904 78904502 78907292 0.2 [{'connected_gene': 'ALG8', 'score': 4.67}, {'connected_gene': 'ENSG00000254563', 'score': 0.1}, {'connected_gene': 'ENSG00000255345', 'score': 0.09}, {'connected_gene': 'TENM4', 'score': 0.03}]
chr11 GH11I078924 78924079 78926154 0.31 [{'connected_gene': 'ALG8', 'score': 4.57}, {'connected_gene': 'ENSG00000255345', 'score': 0.1}, {'connected_gene': 'ENSG00000254563', 'score': 0.1}, {'connected_gene': 'TENM4', 'score': 0.03}]
chr11 GH11I078044 78044188 78046924 1.95 [{'connected_gene': 'KCTD14', 'score': 550.77}, {'connected_gene': 'KCTD21-AS1', 'score': 45.94}, {'connected_gene': 'INTS4', 'score': 10.57}, {'connected_gene': 'NDUFC2', 'score': 7.78}, {'connected_gene': 'ALG8', 'score': 5.99}, {'connected_gene': 'AAMDC', 'score': 4.98}, {'connected_gene': 'ENSG00000254675', 'score': 0.34}, {'connected_gene': 'NDUFC2-KCTD14', 'score': 0.29}]
chr11 GH11I078185 78185155 78190596 2.8 [{'connected_gene': 'USP35', 'score': 561.1}, {'connected_gene': 'KCTD21', 'score': 550.77}, {'connected_gene': 'RPL21P95', 'score': 51.46}, {'connected_gene': 'INTS4', 'score': 49.28}, {'connected_gene': 'LOC101928865', 'score': 48.78}, {'connected_gene': 'ENSG00000255449', 'score': 39.62}, {'connected_gene': 'KCTD21-AS1', 'score': 25.72}, {'connected_gene': 'ALG8', 'score': 11.53}, {'connected_gene': 'RSF1', 'score': 2.2}, {'connected_gene': 'PIR40351', 'score': 0.37}]
chr11 GH11I078192 78192027 78193728 1.04 [{'connected_gene': 'USP35', 'score': 11.92}, {'connected_gene': 'KCTD21-AS1', 'score': 5.98}, {'connected_gene': 'ALG8', 'score': 5.63}, {'connected_gene': 'KCTD21', 'score': 0.77}, {'connected_gene': 'PIR47261', 'score': 0.37}]
chr11 GH11I078060 78060828 78062248 1.04 [{'connected_gene': 'KCTD21-AS1', 'score': 16.6}, {'connected_gene': 'ENSG00000254829', 'score': 10.86}, {'connected_gene': 'INTS4', 'score': 10.31}, {'connected_gene': 'NDUFC2', 'score': 8.52}, {'connected_gene': 'ALG8', 'score': 6.02}, {'connected_gene': 'THRSP', 'score': 0.77}, {'connected_gene': 'NDUFC2-KCTD14', 'score': 0.37}, {'connected_gene': 'KCTD14', 'score': 0.37}]
chr11 GH11I078138 78138477 78141055 2.07 [{'connected_gene': 'KCTD21-AS1', 'score': 625.65}, {'connected_gene': 'ALG8', 'score': 550.77}, {'connected_gene': 'INTS4', 'score': 25.31}, {'connected_gene': 'KCTD21', 'score': 20.19}, {'connected_gene': 'ENSG00000255449', 'score': 12.65}, {'connected_gene': 'LOC101928865', 'score': 12.34}, {'connected_gene': 'RPL21P95', 'score': 11.74}, {'connected_gene': 'USP35', 'score': 10.92}, {'connected_gene': 'THRSP', 'score': 10.26}]
chr11 GH11I078161 78160916 78161118 0.52 [{'connected_gene': 'KCTD21-AS1', 'score': 12.83}, {'connected_gene': 'ALG8', 'score': 12.83}, {'connected_gene': 'USP35', 'score': 12.46}, {'connected_gene': 'KCTD21', 'score': 12.46}, {'connected_gene': 'GC11P078155', 'score': 0.44}, {'connected_gene': 'GC11M078165', 'score': 0.44}, {'connected_gene': 'PIR47143', 'score': 0.44}]
chr11 GH11I078162 78162762 78163171 0.2 [{'connected_gene': 'KCTD21-AS1', 'score': 12.83}, {'connected_gene': 'ALG8', 'score': 12.83}, {'connected_gene': 'USP35', 'score': 12.46}, {'connected_gene': 'KCTD21', 'score': 12.46}, {'connected_gene': 'GC11M078165', 'score': 0.77}, {'connected_gene': 'GC11P078155', 'score': 0.44}, {'connected_gene': 'PIR47143', 'score': 0.44}]
chr11 GH11I078164 78162201 78162583 0.49 [{'connected_gene': 'KCTD21-AS1', 'score': 12.83}, {'connected_gene': 'ALG8', 'score': 12.83}, {'connected_gene': 'USP35', 'score': 12.46}, {'connected_gene': 'KCTD21', 'score': 12.46}, {'connected_gene': 'GC11M078165', 'score': 0.77}, {'connected_gene': 'GC11P078155', 'score': 0.44}, {'connected_gene': 'PIR47143', 'score': 0.44}]
chr11 GH11I078165 78161232 78161908 0.31 [{'connected_gene': 'KCTD21-AS1', 'score': 79.54}, {'connected_gene': 'ALG8', 'score': 12.83}, {'connected_gene': 'USP35', 'score': 12.46}, {'connected_gene': 'KCTD21', 'score': 12.46}, {'connected_gene': 'GC11M078165', 'score': 0.77}, {'connected_gene': 'GC11P078155', 'score': 0.44}, {'connected_gene': 'PIR47143', 'score': 0.44}]
chr11 GH11I078179 78179795 78179944 0.94 [{'connected_gene': 'KCTD21-AS1', 'score': 11.55}, {'connected_gene': 'ALG8', 'score': 11.55}, {'connected_gene': 'USP35', 'score': 0.44}, {'connected_gene': 'PIR40351', 'score': 0.44}, {'connected_gene': 'KCTD21', 'score': 0.44}]
chr11 GH11I078082 78082998 78087573 0.87 [{'connected_gene': 'KCTD21-AS1', 'score': 68.84}, {'connected_gene': 'THRSP', 'score': 10.99}, {'connected_gene': 'KCTD14', 'score': 10.98}, {'connected_gene': 'ENSG00000254829', 'score': 10.43}, {'connected_gene': 'INTS4', 'score': 9.94}, {'connected_gene': 'NDUFC2', 'score': 9.3}, {'connected_gene': 'ALG8', 'score': 6.07}, {'connected_gene': 'AAMDC', 'score': 5.0}, {'connected_gene': 'LOC105369401', 'score': 0.77}, {'connected_gene': 'GC11P078094', 'score': 0.44}]
chr11 GH11I078050 78050173 78052284 1.34 [{'connected_gene': 'ENSG00000254829', 'score': 11.12}, {'connected_gene': 'INTS4', 'score': 10.72}, {'connected_gene': 'NDUFC2', 'score': 8.71}, {'connected_gene': 'ALG8', 'score': 5.84}, {'connected_gene': 'KCTD14', 'score': 0.44}, {'connected_gene': 'THRSP', 'score': 0.39}, {'connected_gene': 'NDUFC2-KCTD14', 'score': 0.31}]
chr11 GH11I078166 78166495 78167833 0.88 [{'connected_gene': 'GC11M078165', 'score': 550.77}, {'connected_gene': 'KCTD21-AS1', 'score': 17.73}, {'connected_gene': 'ALG8', 'score': 12.72}, {'connected_gene': 'USP35', 'score': 12.26}, {'connected_gene': 'KCTD21', 'score': 12.26}, {'connected_gene': 'NDUFC2', 'score': 10.66}, {'connected_gene': 'THRSP', 'score': 9.87}, {'connected_gene': 'PIR40351', 'score': 0.77}]
chr11 GH11I078163 78163642 78164980 0.72 [{'connected_gene': 'GC11M078165', 'score': 550.77}, {'connected_gene': 'KCTD21-AS1', 'score': 44.58}, {'connected_gene': 'ALG8', 'score': 12.75}, {'connected_gene': 'USP35', 'score': 12.26}, {'connected_gene': 'KCTD21', 'score': 12.26}, {'connected_gene': 'GC11P078155', 'score': 0.44}, {'connected_gene': 'PIR47143', 'score': 0.44}]

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