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
ENST00000269187 [[33688494, 33689708], [33691021, 33691212], [33692463, 33692544], [33694059, 33694437], [33696636, 33696742], [33702014, 33702233], [33703457, 33703627], [33704482, 33704663], [33706181, 33706979], [33709076, 33709281]] [[33689555, 33689708], [33691021, 33691212], [33692463, 33692544], [33694059, 33694437], [33696636, 33696742], [33702014, 33702233], [33703457, 33703627], [33704482, 33704663], [33706181, 33706970]]
ENST00000590986 [[33689110, 33689708], [33691021, 33691212], [33692463, 33692544], [33694059, 33694437], [33696636, 33696742], [33702014, 33702233], [33703457, 33703627], [33704482, 33704663], [33706181, 33706979], [33709063, 33709344]] [[33689555, 33689708], [33691021, 33691212], [33692463, 33692544], [33694059, 33694437], [33696636, 33696742], [33702014, 33702233], [33703457, 33703627], [33704482, 33704663], [33706181, 33706970]]
ENST00000440549 [[33690962, 33691212], [33692463, 33692544], [33694059, 33694437], [33696636, 33696742], [33702014, 33702233], [33703457, 33703627], [33704482, 33704663], [33709076, 33709348]] [[33691009, 33691212], [33692463, 33692544], [33694059, 33694437], [33696636, 33696742], [33702014, 33702233], [33703457, 33703627], [33704482, 33704627]]
ENST00000586829 [[33691018, 33691212], [33692463, 33692544], [33694059, 33694437], [33696636, 33696742], [33702014, 33702078]] [[33691018, 33691212], [33692463, 33692544], [33694059, 33694437], [33696636, 33696742], [33702014, 33702074]]
NM_012319 [[33688493, 33689708], [33691021, 33691212], [33692463, 33692544], [33694059, 33694437], [33696636, 33696742], [33702014, 33702233], [33703457, 33703627], [33704482, 33704663], [33706181, 33706979], [33709076, 33709357]] [[33689555, 33689708], [33691021, 33691212], [33692463, 33692544], [33694059, 33694437], [33696636, 33696742], [33702014, 33702233], [33703457, 33703627], [33704482, 33704663], [33706181, 33706970]]
NM_001099406 [[33690962, 33691212], [33692463, 33692544], [33694059, 33694437], [33696636, 33696742], [33702014, 33702233], [33703457, 33703627], [33704482, 33704663], [33709076, 33709357]] [[33691009, 33691212], [33692463, 33692544], [33694059, 33694437], [33696636, 33696742], [33702014, 33702233], [33703457, 33703627], [33704482, 33704627]]
Promoter
Chrom Start End Description
chr18 33702093 33702108 CAGE_peak_4_at_SLC39A6_5end
chr18 33709268 33709380 CAGE_peak_1_at_SLC39A6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I036111 36111685 36113228 0.38 [{'connected_gene': 'ELP2', 'score': 15.21}, {'connected_gene': 'MOCOS', 'score': 11.03}, {'connected_gene': 'FHOD3', 'score': 10.12}, {'connected_gene': 'LOC101927809', 'score': 5.5}, {'connected_gene': 'SLC39A6', 'score': 0.37}, {'connected_gene': 'GC18M036078', 'score': 0.29}]
chr18 GH18I036149 36149840 36154767 0.83 [{'connected_gene': 'ELP2', 'score': 33.35}, {'connected_gene': 'MOCOS', 'score': 20.93}, {'connected_gene': 'LOC791126', 'score': 4.23}, {'connected_gene': 'PIR50550', 'score': 0.77}, {'connected_gene': 'SLC39A6', 'score': 0.34}]
chr18 GH18I036121 36121478 36121627 0.4 [{'connected_gene': 'ELP2', 'score': 15.28}, {'connected_gene': 'MOCOS', 'score': 9.37}, {'connected_gene': 'SLC39A6', 'score': 0.44}, {'connected_gene': 'GC18M036078', 'score': 0.26}]
chr18 GH18I036127 36127934 36133133 2.31 [{'connected_gene': 'ELP2', 'score': 588.47}, {'connected_gene': 'SLC39A6', 'score': 550.77}, {'connected_gene': 'ENSG00000268573', 'score': 42.41}, {'connected_gene': 'ZNF397', 'score': 24.3}, {'connected_gene': 'KIAA1328', 'score': 11.6}, {'connected_gene': 'LOC101927809', 'score': 10.84}, {'connected_gene': 'MOCOS', 'score': 9.42}, {'connected_gene': 'LOC791126', 'score': 4.2}, {'connected_gene': 'PIR50550', 'score': 0.31}]
chr18 GH18I036115 36115396 36117024 0.2 [{'connected_gene': 'ELP2', 'score': 15.25}, {'connected_gene': 'SLC39A6', 'score': 0.39}, {'connected_gene': 'GC18M036078', 'score': 0.28}]
chr18 GH18I036114 36114418 36114487 0.43 [{'connected_gene': 'ELP2', 'score': 0.39}, {'connected_gene': 'SLC39A6', 'score': 0.37}, {'connected_gene': 'GC18M036078', 'score': 0.28}]
chr18 GH18I036118 36118013 36120364 0.54 [{'connected_gene': 'ELP2', 'score': 15.24}, {'connected_gene': 'LOC105372066', 'score': 5.88}, {'connected_gene': 'SLC39A6', 'score': 0.39}, {'connected_gene': 'GC18M036078', 'score': 0.26}]
chr18 GH18I036109 36109303 36110649 0.56 [{'connected_gene': 'MOCOS', 'score': 19.36}, {'connected_gene': 'FHOD3', 'score': 10.12}, {'connected_gene': 'SLC39A6', 'score': 0.37}, {'connected_gene': 'ELP2', 'score': 0.37}, {'connected_gene': 'GC18M036078', 'score': 0.29}]
chr18 GH18I036110 36110744 36111491 0.2 [{'connected_gene': 'MOCOS', 'score': 20.14}, {'connected_gene': 'FHOD3', 'score': 10.12}, {'connected_gene': 'SLC39A6', 'score': 0.37}, {'connected_gene': 'ELP2', 'score': 0.37}, {'connected_gene': 'GC18M036078', 'score': 0.29}]
chr18 GH18I035732 35732317 35733355 0.54 [{'connected_gene': 'GALNT1', 'score': 5.03}, {'connected_gene': 'SLC39A6', 'score': 4.34}, {'connected_gene': 'ENSG00000267397', 'score': 0.37}, {'connected_gene': 'NRBF2P1', 'score': 0.14}]
chr18 GH18I036125 36125018 36125167 0.4 [{'connected_gene': 'SLC39A6', 'score': 0.77}, {'connected_gene': 'ELP2', 'score': 0.77}, {'connected_gene': 'GC18M036078', 'score': 0.25}]
chr18 GH18I036126 36126991 36127050 0.96 [{'connected_gene': 'SLC39A6', 'score': 550.77}, {'connected_gene': 'ELP2', 'score': 0.77}, {'connected_gene': 'GC18M036078', 'score': 0.25}]
chr18 GH18I035525 35525802 35527006 1 [{'connected_gene': 'SLC39A6', 'score': 5.16}, {'connected_gene': 'INO80C', 'score': 0.31}, {'connected_gene': 'GALNT1', 'score': 0.23}]
chr18 GH18I035155 35155600 35156275 0.8 [{'connected_gene': 'SLC39A6', 'score': 4.13}, {'connected_gene': 'ENSG00000274400', 'score': 0.39}, {'connected_gene': 'PIR47170', 'score': 0.2}]
chr18 GH18I035141 35141656 35143177 0.31 [{'connected_gene': 'MAPRE2', 'score': 5.14}, {'connected_gene': 'ZNF24', 'score': 4.16}, {'connected_gene': 'SLC39A6', 'score': 4.07}, {'connected_gene': 'ENSG00000274400', 'score': 0.77}, {'connected_gene': 'ENSG00000280096', 'score': 0.21}]
chr18 GH18I035613 35613105 35620590 1.13 [{'connected_gene': 'ENSG00000268573', 'score': 24.07}, {'connected_gene': 'GALNT1', 'score': 17.07}, {'connected_gene': 'ZNF397', 'score': 13.78}, {'connected_gene': 'SLC39A6', 'score': 4.89}, {'connected_gene': 'ENSG00000266965', 'score': 0.34}, {'connected_gene': 'LOC105372065', 'score': 0.21}]