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
ENST00000371538 [[53152507, 53153840], [53158398, 53158539], [53163892, 53164038]] [[53153391, 53153840], [53158398, 53158539], [53163892, 53163998]]
ENST00000486918 [[53153233, 53153840], [53158398, 53158539], [53163580, 53163740]] None
NM_023077 [[53152013, 53153840], [53158398, 53158539], [53163892, 53164038]] [[53153391, 53153840], [53158398, 53158539], [53163892, 53163998]]
Promoter
Chrom Start End Description
chr1 53163992 53164041 CAGE_peak_1_at_SELRC1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I052702 52702509 52704200 1.28 [{'connected_gene': 'ZYG11B', 'score': 10.11}, {'connected_gene': 'COA7', 'score': 9.93}, {'connected_gene': 'NDUFS5P3', 'score': 0.44}]
chr1 GH01I052706 52706201 52706600 0.31 [{'connected_gene': 'ZYG11B', 'score': 10.39}, {'connected_gene': 'COA7', 'score': 10.09}, {'connected_gene': 'NDUFS5P3', 'score': 0.77}]
chr1 GH01I052697 52697047 52699251 2.09 [{'connected_gene': 'COA7', 'score': 560.38}, {'connected_gene': 'GC01P052696', 'score': 550.77}, {'connected_gene': 'ZCCHC11', 'score': 28.3}, {'connected_gene': 'MAGOH', 'score': 27.35}, {'connected_gene': 'KTI12', 'score': 13.89}, {'connected_gene': 'PRPF38A', 'score': 12.98}, {'connected_gene': 'ENSG00000230953', 'score': 12.3}, {'connected_gene': 'ENSG00000272100', 'score': 12.0}, {'connected_gene': 'ENSG00000266993', 'score': 11.53}, {'connected_gene': 'ZFYVE9', 'score': 11.42}, {'connected_gene': 'ORC1', 'score': 10.83}, {'connected_gene': 'ZYG11B', 'score': 10.11}, {'connected_gene': 'ECHDC2', 'score': 9.97}]
chr1 GH01I052700 52700602 52701213 1.05 [{'connected_gene': 'COA7', 'score': 0.77}, {'connected_gene': 'NDUFS5P3', 'score': 0.44}]
chr1 GH01I052903 52903489 52903839 0.34 [{'connected_gene': 'ECHDC2', 'score': 19.69}, {'connected_gene': 'SCP2', 'score': 14.49}, {'connected_gene': 'LOC100652967', 'score': 12.34}, {'connected_gene': 'ZYG11B', 'score': 7.57}, {'connected_gene': 'COA7', 'score': 7.42}, {'connected_gene': 'PIR50883', 'score': 0.44}, {'connected_gene': 'ENSG00000230953', 'score': 0.37}]
chr1 GH01I052926 52926607 52928429 1.89 [{'connected_gene': 'ECHDC2', 'score': 567.89}, {'connected_gene': 'SCP2', 'score': 550.77}, {'connected_gene': 'MIR1273F', 'score': 550.77}, {'connected_gene': 'COA7', 'score': 7.45}, {'connected_gene': 'SLC1A7', 'score': 5.62}]
chr1 GH01I052653 52653159 52654829 0.59 [{'connected_gene': 'GPX7', 'score': 11.44}, {'connected_gene': 'PRPF38A', 'score': 9.91}, {'connected_gene': 'COA7', 'score': 5.15}, {'connected_gene': 'GC01P052637', 'score': 0.37}, {'connected_gene': 'SHISAL2A', 'score': 0.34}, {'connected_gene': 'PIR34624', 'score': 0.34}]
chr1 GH01I052674 52674316 52680020 0.91 [{'connected_gene': 'GPX7', 'score': 15.91}, {'connected_gene': 'ZCCHC11', 'score': 11.18}, {'connected_gene': 'ZYG11B', 'score': 7.65}, {'connected_gene': 'COA7', 'score': 6.45}, {'connected_gene': 'SCP2', 'score': 5.53}, {'connected_gene': 'SHISAL2A', 'score': 5.34}, {'connected_gene': 'PIR34624', 'score': 0.77}, {'connected_gene': 'GC01P052685', 'score': 0.44}]
chr1 GH01I052686 52686000 52686938 0.84 [{'connected_gene': 'GC01P052685', 'score': 550.77}, {'connected_gene': 'PRPF38A', 'score': 11.25}, {'connected_gene': 'ZYG11B', 'score': 7.0}, {'connected_gene': 'SCP2', 'score': 5.54}, {'connected_gene': 'COA7', 'score': 4.41}, {'connected_gene': 'GC01P052696', 'score': 0.44}]
chr1 GH01I052707 52706847 52709489 0.89 [{'connected_gene': 'GC01P052710', 'score': 550.77}, {'connected_gene': 'NDUFS5P3', 'score': 550.77}, {'connected_gene': 'ZYG11B', 'score': 10.4}, {'connected_gene': 'COA7', 'score': 9.25}, {'connected_gene': 'SCP2', 'score': 4.54}]