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
ENST00000375991 [[88879460, 88881106], [88886921, 88887027], [88889103, 88889157], [88897292, 88897444]] [[88880957, 88881106], [88886921, 88887027], [88889103, 88889157], [88897292, 88897373]]
ENST00000452279 [[88880487, 88881106], [88886921, 88887027], [88889103, 88889157], [88897292, 88897676]] [[88880957, 88881106], [88886921, 88887027], [88889103, 88889157], [88897292, 88897514]]
ENST00000311534 [[88880593, 88881106], [88886921, 88887027], [88889103, 88889157], [88896883, 88897023]] [[88880957, 88881053]]
ENST00000326094 [[88881777, 88882720], [88886921, 88887027], [88889103, 88889157], [88897292, 88897453]] [[88882700, 88882720], [88886921, 88887027], [88889103, 88889157], [88897292, 88897373]]
NM_030940 [[88879460, 88881106], [88886921, 88887027], [88889103, 88889157], [88897292, 88897490]] [[88880957, 88881106], [88886921, 88887027], [88889103, 88889157], [88897292, 88897373]]
Promoter
Chrom Start End Description
chr9 88896977 88897013 CAGE_peak_2_at_ISCA1_5end
chr9 88897406 88897413 CAGE_peak_4_at_ISCA1_5end
chr9 88897426 88897497 CAGE_peak_1_at_ISCA1_5end,CAGE_peak_2_at_GOLM1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I086280 86280960 86283758 2.07 [{'connected_gene': 'ISCA1', 'score': 550.77}, {'connected_gene': 'C9orf153', 'score': 28.8}, {'connected_gene': 'GAS1RR', 'score': 11.28}, {'connected_gene': 'RN7SKP264', 'score': 11.23}, {'connected_gene': 'LOC389765', 'score': 10.09}, {'connected_gene': 'LOC100130049', 'score': 9.99}, {'connected_gene': 'GAS1', 'score': 9.83}, {'connected_gene': 'ZCCHC6', 'score': 6.06}]
chr9 GH09I086286 86286606 86286721 0.64 [{'connected_gene': 'ISCA1', 'score': 0.77}, {'connected_gene': 'GC09M086340', 'score': 0.23}]
chr9 GH09I086303 86303088 86304494 0.57 [{'connected_gene': 'ZCCHC6', 'score': 6.36}, {'connected_gene': 'ISCA1', 'score': 0.34}, {'connected_gene': 'GC09M086340', 'score': 0.28}]
chr9 GH09I086337 86337066 86341078 0.95 [{'connected_gene': 'ZCCHC6', 'score': 7.58}, {'connected_gene': 'C9orf153', 'score': 5.36}, {'connected_gene': 'GC09M086340', 'score': 0.77}, {'connected_gene': 'ISCA1', 'score': 0.22}]
chr9 GH09I086284 86284553 86285855 0.66 [{'connected_gene': 'ZCCHC6', 'score': 6.13}, {'connected_gene': 'C9orf153', 'score': 4.66}, {'connected_gene': 'ISCA1', 'score': 0.77}, {'connected_gene': 'GC09M086340', 'score': 0.22}]
chr9 GH09I086287 86287001 86287441 0.98 [{'connected_gene': 'C9orf153', 'score': 19.67}, {'connected_gene': 'ISCA1', 'score': 0.77}, {'connected_gene': 'GC09M086340', 'score': 0.23}]
chr9 GH09I086322 86322676 86324675 0.46 [{'connected_gene': 'C9orf153', 'score': 19.89}, {'connected_gene': 'ZCCHC6', 'score': 6.19}, {'connected_gene': 'GC09M086340', 'score': 0.37}, {'connected_gene': 'ISCA1', 'score': 0.26}]
chr9 GH09I086320 86320920 86322224 0.38 [{'connected_gene': 'C9orf153', 'score': 19.57}, {'connected_gene': 'ZCCHC6', 'score': 7.31}, {'connected_gene': 'GC09M086340', 'score': 0.37}, {'connected_gene': 'ISCA1', 'score': 0.28}]
chr9 GH09I086259 86259647 86259706 0.5 [{'connected_gene': 'C9orf153', 'score': 550.77}, {'connected_gene': 'RN7SKP264', 'score': 550.77}, {'connected_gene': 'ISCA1', 'score': 0.34}]