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
ENST00000311925 [[34689563, 34689836], [34689926, 34690020], [34690206, 34690339], [34691087, 34691274]] [[34689815, 34689836], [34689926, 34690020], [34690206, 34690339], [34691087, 34691136]]
ENST00000485502 [[34689568, 34690020], [34690206, 34690235]] None
ENST00000378800 [[34689853, 34690020], [34690206, 34690339], [34691087, 34691201]] [[34689887, 34690020], [34690206, 34690339], [34691087, 34691136]]
NM_006274 [[34689566, 34689836], [34689926, 34690020], [34690206, 34690339], [34691087, 34691274]] [[34689815, 34689836], [34689926, 34690020], [34690206, 34690339], [34691087, 34691136]]
Promoter
Chrom Start End Description
chr9 34691263 34691278 CAGE_peak_1_at_CCL19_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I034743 34743960 34746502 0.46 [{'connected_gene': 'CCL21', 'score': 11.66}, {'connected_gene': 'CCL19', 'score': 10.9}, {'connected_gene': 'PHF24', 'score': 10.39}, {'connected_gene': 'FAM205A', 'score': 8.54}]
chr9 GH09I034709 34709695 34710503 0.7 [{'connected_gene': 'CCL21', 'score': 550.77}, {'connected_gene': 'FAM205BP', 'score': 11.87}, {'connected_gene': 'IL11RA', 'score': 10.95}, {'connected_gene': 'GALT', 'score': 10.92}, {'connected_gene': 'RPP25L', 'score': 5.46}, {'connected_gene': 'FAM205A', 'score': 5.06}, {'connected_gene': 'CCL19', 'score': 0.37}]
chr9 GH09I034691 34691266 34691325 0.5 [{'connected_gene': 'CCL19', 'score': 550.77}, {'connected_gene': 'CCL21', 'score': 0.37}]
chr9 GH09I034123 34123531 34127855 2.04 [{'connected_gene': 'DCAF12', 'score': 556.95}, {'connected_gene': 'ENSG00000228352', 'score': 11.06}, {'connected_gene': 'PIGO', 'score': 9.87}, {'connected_gene': 'ENSG00000260947', 'score': 5.88}, {'connected_gene': 'KIF24', 'score': 4.31}, {'connected_gene': 'CCL19', 'score': 4.08}, {'connected_gene': 'PIRC37', 'score': 0.44}, {'connected_gene': 'GC09P034099', 'score': 0.31}]
chr9 GH09I034899 34899664 34899833 0.65 [{'connected_gene': 'PHF24', 'score': 11.37}, {'connected_gene': 'VCP', 'score': 10.9}, {'connected_gene': 'FANCG', 'score': 10.89}, {'connected_gene': 'ENSG00000234181', 'score': 10.72}, {'connected_gene': 'PIGO', 'score': 10.72}, {'connected_gene': 'STOML2', 'score': 10.72}, {'connected_gene': 'CCL19', 'score': 9.91}, {'connected_gene': 'FAM205C', 'score': 0.77}, {'connected_gene': 'GLULP4', 'score': 0.37}]
chr9 GH09I034700 34700986 34702853 1.07 [{'connected_gene': 'RPP25L', 'score': 6.23}, {'connected_gene': 'DNAJB5', 'score': 4.37}, {'connected_gene': 'CCL21', 'score': 0.44}, {'connected_gene': 'CCL19', 'score': 0.39}]
chr9 GH09I034681 34681860 34682177 0.49 [{'connected_gene': 'ENSG00000230074', 'score': 20.78}, {'connected_gene': 'IL11RA', 'score': 2.09}, {'connected_gene': 'ARID3C', 'score': 2.04}, {'connected_gene': 'CCL19', 'score': 0.44}, {'connected_gene': 'PIR49106', 'score': 0.44}]
chr9 GH09I034083 34083803 34087755 0.66 [{'connected_gene': 'ENSG00000228352', 'score': 550.77}, {'connected_gene': 'NUDT2', 'score': 12.38}, {'connected_gene': 'ENSG00000260947', 'score': 5.98}, {'connected_gene': 'CCL19', 'score': 4.11}, {'connected_gene': 'GC09P034099', 'score': 0.39}, {'connected_gene': 'DCAF12', 'score': 0.26}]
chr9 GH09I034685 34685204 34687001 0.31 [{'connected_gene': 'ENSG00000230074', 'score': 22.51}, {'connected_gene': 'GALT', 'score': 15.84}, {'connected_gene': 'RPP25L', 'score': 12.41}, {'connected_gene': 'CCL19', 'score': 0.44}, {'connected_gene': 'PIR49106', 'score': 0.39}]
chr9 GH09I034575 34575665 34580790 0.77 [{'connected_gene': 'GC09P034579', 'score': 550.77}, {'connected_gene': 'GC09P034580', 'score': 550.77}, {'connected_gene': 'GALT', 'score': 26.13}, {'connected_gene': 'RPP25L', 'score': 22.39}, {'connected_gene': 'ENSG00000230074', 'score': 15.55}, {'connected_gene': 'ENHO', 'score': 15.51}, {'connected_gene': 'FAM219A', 'score': 14.09}, {'connected_gene': 'ENSG00000232983', 'score': 13.54}, {'connected_gene': 'ARID3C', 'score': 12.12}, {'connected_gene': 'CNTFR', 'score': 11.37}, {'connected_gene': 'ENSG00000230729', 'score': 10.98}, {'connected_gene': 'SIGMAR1', 'score': 10.74}, {'connected_gene': 'DNAI1', 'score': 10.51}, {'connected_gene': 'DCTN3', 'score': 10.44}, {'connected_gene': 'IL11RA', 'score': 10.15}, {'connected_gene': 'CCL19', 'score': 9.62}, {'connected_gene': 'DNAJB5', 'score': 4.58}, {'connected_gene': 'PHF24', 'score': 3.22}, {'connected_gene': 'LOC105376023', 'score': 0.44}, {'connected_gene': 'CNTFR-AS1', 'score': 0.39}]