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
ENST00000366875 [[223566714, 223568812]] [[223566817, 223568689]]
NM_152610 [[223566714, 223568812]] [[223566817, 223568689]]
Promoter
Chrom Start End Description
chr1 223566743 223566791 CAGE_peak_1_at_C1orf65_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I223499 223499805 223501620 0.83 [{'connected_gene': 'HHIPL2', 'score': 4.87}, {'connected_gene': 'LOC105373034', 'score': 0.44}, {'connected_gene': 'CCDC185', 'score': 0.14}]
chr1 GH01I223411 223411005 223412053 0.31 [{'connected_gene': 'SUSD4', 'score': 9.78}, {'connected_gene': 'CCDC185', 'score': 0.37}, {'connected_gene': 'LOC105373034', 'score': 0.16}]
chr1 GH01I223401 223401201 223401400 0.2 [{'connected_gene': 'SUSD4', 'score': 18.62}, {'connected_gene': 'CCDC185', 'score': 0.44}, {'connected_gene': 'LOC105373034', 'score': 0.14}]
chr1 GH01I223402 223402046 223403188 0.87 [{'connected_gene': 'NVL', 'score': 14.01}, {'connected_gene': 'CICP5', 'score': 11.26}, {'connected_gene': 'CICP13', 'score': 10.53}, {'connected_gene': 'CCDC185', 'score': 0.44}, {'connected_gene': 'LOC105373034', 'score': 0.15}]
chr1 GH01I223504 223504353 223505468 0.63 [{'connected_gene': 'LOC105373034', 'score': 550.77}, {'connected_gene': 'ENSG00000229399', 'score': 4.38}, {'connected_gene': 'CCDC185', 'score': 0.14}]
chr1 GH01I223393 223393368 223393427 0.68 [{'connected_gene': 'LOC105373025', 'score': 550.77}, {'connected_gene': 'CCDC185', 'score': 550.77}, {'connected_gene': 'GC01P223390', 'score': 0.77}, {'connected_gene': 'LOC105373034', 'score': 0.14}]
chr1 GH01I223429 223429219 223430060 0.2 [{'connected_gene': 'ENSG00000272750', 'score': 4.43}, {'connected_gene': 'CCDC185', 'score': 0.28}, {'connected_gene': 'LOC105373034', 'score': 0.18}]