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
ENST00000341376 [[41040683, 41040823], [41046767, 41046903], [41048549, 41048636], [41051784, 41051931], [41057317, 41057449], [41057942, 41058048], [41059266, 41059433], [41060650, 41060824], [41062134, 41062236], [41065095, 41067715]] [[41046828, 41046903], [41048549, 41048636], [41051784, 41051931], [41057317, 41057449], [41057942, 41058048], [41059266, 41059433], [41060650, 41060824], [41062134, 41062236], [41065095, 41065149]]
ENST00000353205 [[41040721, 41040823], [41046767, 41046903], [41051784, 41051931], [41057317, 41057449], [41057942, 41058048], [41059266, 41059433], [41060650, 41060824], [41062134, 41062236], [41065095, 41065689]] [[41046828, 41046903], [41051784, 41051931], [41057317, 41057449], [41057942, 41058048], [41059266, 41059433], [41060650, 41060824], [41062134, 41062236], [41065095, 41065149]]
NM_021705 [[41040706, 41040823], [41046767, 41046903], [41051784, 41051931], [41057317, 41057449], [41057942, 41058048], [41059266, 41059433], [41060650, 41060824], [41062134, 41062236], [41065095, 41070146]] [[41046828, 41046903], [41051784, 41051931], [41057317, 41057449], [41057942, 41058048], [41059266, 41059433], [41060650, 41060824], [41062134, 41062236], [41065095, 41065149]]
NM_002505 [[41040706, 41040823], [41046767, 41046903], [41048549, 41048636], [41051784, 41051931], [41057317, 41057449], [41057942, 41058048], [41059266, 41059433], [41060650, 41060824], [41062134, 41062236], [41065095, 41070146]] [[41046828, 41046903], [41048549, 41048636], [41051784, 41051931], [41057317, 41057449], [41057942, 41058048], [41059266, 41059433], [41060650, 41060824], [41062134, 41062236], [41065095, 41065149]]
Promoter
Chrom Start End Description
chr6 41040678 41040722 CAGE_peak_1_at_NFYA_5end
chr6 41040849 41040860 CAGE_peak_3_at_NFYA_5end
chr6 41040905 41040916 CAGE_peak_4_at_NFYA_5end
chr6 41040923 41040952 CAGE_peak_2_at_NFYA_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I041455 41455218 41457840 1.21 [{'connected_gene': 'MED20', 'score': 18.45}, {'connected_gene': 'TAF8', 'score': 12.06}, {'connected_gene': 'OARD1', 'score': 12.02}, {'connected_gene': 'FOXP4', 'score': 10.92}, {'connected_gene': 'FOXP4-AS1', 'score': 10.91}, {'connected_gene': 'NFYA', 'score': 9.79}, {'connected_gene': 'ENSG00000124593', 'score': 9.72}, {'connected_gene': 'GC06M041477', 'score': 0.34}, {'connected_gene': 'ENSG00000280371', 'score': 0.23}]
chr6 GH06I041198 41198315 41204545 1.82 [{'connected_gene': 'TREML2', 'score': 550.77}, {'connected_gene': 'TREML4', 'score': 42.38}, {'connected_gene': 'TREML3P', 'score': 20.13}, {'connected_gene': 'TREM2', 'score': 11.58}, {'connected_gene': 'USP49', 'score': 11.29}, {'connected_gene': 'ADCY10P1', 'score': 10.9}, {'connected_gene': 'NFYA', 'score': 10.5}, {'connected_gene': 'TREML5P', 'score': 8.17}, {'connected_gene': 'TREML1', 'score': 5.43}, {'connected_gene': 'ENSG00000218809', 'score': 5.04}]
chr6 GH06I040587 40587162 40588111 1.95 [{'connected_gene': 'LRFN2', 'score': 550.77}, {'connected_gene': 'NFYA', 'score': 10.42}, {'connected_gene': 'GC06P042419', 'score': 0.17}]
chr6 GH06I041284 41284001 41287803 1.77 [{'connected_gene': 'TREM1', 'score': 559.9}, {'connected_gene': 'TFEB', 'score': 4.85}, {'connected_gene': 'NFYA', 'score': 4.81}, {'connected_gene': 'TREML2', 'score': 3.2}, {'connected_gene': 'TREML4', 'score': 1.59}, {'connected_gene': 'GC06M041280', 'score': 0.77}]
chr6 GH06I041242 41242571 41242622 0.33 [{'connected_gene': 'TREM1', 'score': 7.68}, {'connected_gene': 'NFYA', 'score': 5.24}, {'connected_gene': 'TFEB', 'score': 4.73}, {'connected_gene': 'TREML2', 'score': 4.07}, {'connected_gene': 'TREML5P', 'score': 0.77}, {'connected_gene': 'RNA5SP207', 'score': 0.77}]
chr6 GH06I041278 41278799 41279600 1.64 [{'connected_gene': 'TREM1', 'score': 17.99}, {'connected_gene': 'USP49', 'score': 11.29}, {'connected_gene': 'NFYA', 'score': 7.56}, {'connected_gene': 'TFEB', 'score': 6.88}, {'connected_gene': 'TREML2', 'score': 4.62}, {'connected_gene': 'TREML4', 'score': 1.94}, {'connected_gene': 'GC06M041280', 'score': 0.77}, {'connected_gene': 'ENSG00000218809', 'score': 0.44}]
chr6 GH06I041181 41181802 41183462 1.34 [{'connected_gene': 'TREM1', 'score': 40.57}, {'connected_gene': 'ADCY10P1', 'score': 11.25}, {'connected_gene': 'TREML1', 'score': 10.86}, {'connected_gene': 'TREML4', 'score': 9.26}, {'connected_gene': 'NFYA', 'score': 8.48}, {'connected_gene': 'TREML2', 'score': 4.7}, {'connected_gene': 'TREM2', 'score': 0.37}]
chr6 GH06I041185 41185201 41186796 1.03 [{'connected_gene': 'TREM1', 'score': 24.84}, {'connected_gene': 'ADCY10P1', 'score': 11.29}, {'connected_gene': 'TREML1', 'score': 10.84}, {'connected_gene': 'TREML4', 'score': 5.72}, {'connected_gene': 'NFYA', 'score': 2.17}, {'connected_gene': 'TREML2', 'score': 0.37}, {'connected_gene': 'TREM2', 'score': 0.34}]
chr6 GH06I041318 41318601 41321217 1.69 [{'connected_gene': 'TREM1', 'score': 8.74}, {'connected_gene': 'ADCY10P1', 'score': 6.68}, {'connected_gene': 'TREML4', 'score': 2.45}, {'connected_gene': 'NFYA', 'score': 1.77}, {'connected_gene': 'TFEB', 'score': 1.18}, {'connected_gene': 'RPL32P15', 'score': 0.44}, {'connected_gene': 'NCR2', 'score': 0.37}]
chr6 GH06I041070 41070635 41076532 2.32 [{'connected_gene': 'NFYA', 'score': 550.77}, {'connected_gene': 'OARD1', 'score': 550.34}, {'connected_gene': 'ADCY10P1', 'score': 37.47}, {'connected_gene': 'TAF8', 'score': 19.81}, {'connected_gene': 'FRS3', 'score': 11.21}, {'connected_gene': 'TSPO2', 'score': 10.65}, {'connected_gene': 'UNC5CL', 'score': 10.65}, {'connected_gene': 'APOBEC2', 'score': 7.7}]
chr6 GH06I040719 40719204 40721119 0.95 [{'connected_gene': 'NFYA', 'score': 4.38}, {'connected_gene': 'LOC105375052', 'score': 0.77}, {'connected_gene': 'LOC105375053', 'score': 0.14}]
chr6 GH06I041487 41487925 41489910 1.24 [{'connected_gene': 'NFYA', 'score': 10.42}, {'connected_gene': 'LINC01276', 'score': 0.39}, {'connected_gene': 'GC06M041477', 'score': 0.39}]
chr6 GH06I040995 40995297 41000613 1.2 [{'connected_gene': 'TSPO2', 'score': 11.87}, {'connected_gene': 'UNC5CL', 'score': 11.87}, {'connected_gene': 'NFYA', 'score': 4.95}, {'connected_gene': 'LOC101929555', 'score': 0.31}, {'connected_gene': 'GC06P042401', 'score': 0.17}]
chr6 GH06I041079 41079832 41080348 0.31 [{'connected_gene': 'TSPO2', 'score': 10.18}, {'connected_gene': 'UNC5CL', 'score': 10.16}, {'connected_gene': 'TREML1', 'score': 9.63}, {'connected_gene': 'NFYA', 'score': 0.44}, {'connected_gene': 'OARD1', 'score': 0.37}]
chr6 GH06I041080 41080801 41081000 0.4 [{'connected_gene': 'TSPO2', 'score': 10.18}, {'connected_gene': 'UNC5CL', 'score': 10.16}, {'connected_gene': 'TREML1', 'score': 9.63}, {'connected_gene': 'NFYA', 'score': 0.44}, {'connected_gene': 'OARD1', 'score': 0.37}]
chr6 GH06I041066 41066922 41067131 0.95 [{'connected_gene': 'TSPO2', 'score': 11.6}, {'connected_gene': 'UNC5CL', 'score': 11.6}, {'connected_gene': 'APOBEC2', 'score': 7.76}, {'connected_gene': 'NFYA', 'score': 0.44}, {'connected_gene': 'OARD1', 'score': 0.29}]
chr6 GH06I041097 41097233 41098626 0.38 [{'connected_gene': 'OARD1', 'score': 550.77}, {'connected_gene': 'GC06P042014', 'score': 0.77}, {'connected_gene': 'PIR45100', 'score': 0.77}, {'connected_gene': 'NFYA', 'score': 0.34}]
chr6 GH06I041100 41100493 41101531 0.54 [{'connected_gene': 'ADCY10P1', 'score': 593.4}, {'connected_gene': 'GC06P042014', 'score': 550.77}, {'connected_gene': 'PIR45100', 'score': 550.77}, {'connected_gene': 'TREM1', 'score': 5.15}, {'connected_gene': 'NFYA', 'score': 0.31}]
chr6 GH06I041062 41062355 41066782 1.32 [{'connected_gene': 'ADCY10P1', 'score': 36.39}, {'connected_gene': 'APOBEC2', 'score': 13.61}, {'connected_gene': 'TSPO2', 'score': 12.25}, {'connected_gene': 'UNC5CL', 'score': 12.22}, {'connected_gene': 'NFYA', 'score': 0.44}, {'connected_gene': 'OARD1', 'score': 0.29}]
chr6 GH06I041247 41247106 41247452 0.22 [{'connected_gene': 'TREML5P', 'score': 550.77}, {'connected_gene': 'TREM1', 'score': 8.28}, {'connected_gene': 'NFYA', 'score': 5.23}, {'connected_gene': 'TFEB', 'score': 4.99}, {'connected_gene': 'TREML2', 'score': 3.82}, {'connected_gene': 'RNA5SP207', 'score': 0.44}]
chr6 GH06I041536 41536233 41539272 1.6 [{'connected_gene': 'TAF8', 'score': 13.17}, {'connected_gene': 'TREM1', 'score': 3.82}, {'connected_gene': 'TREML4', 'score': 2.06}, {'connected_gene': 'TFEB', 'score': 1.4}, {'connected_gene': 'NFYA', 'score': 1.18}, {'connected_gene': 'FOXP4', 'score': 0.44}, {'connected_gene': 'FOXP4-AS1', 'score': 0.39}, {'connected_gene': 'LINC01276', 'score': 0.28}]
chr6 GH06I041560 41560171 41563301 1.38 [{'connected_gene': 'FOXP4', 'score': 11.79}, {'connected_gene': 'MDFI', 'score': 10.53}, {'connected_gene': 'CCND3', 'score': 5.38}, {'connected_gene': 'NFYA', 'score': 1.47}, {'connected_gene': 'TAF8', 'score': 1.46}, {'connected_gene': 'TFEB', 'score': 1.16}, {'connected_gene': 'GC06P041980', 'score': 0.39}, {'connected_gene': 'GC06P041785', 'score': 0.39}, {'connected_gene': 'GC06M041544', 'score': 0.31}]
chr6 GH06I041051 41051558 41060052 1.78 [{'connected_gene': 'APOBEC2', 'score': 560.66}, {'connected_gene': 'ADCY10P1', 'score': 38.36}, {'connected_gene': 'TREML3P', 'score': 5.61}, {'connected_gene': 'NFYA', 'score': 0.37}, {'connected_gene': 'OARD1', 'score': 0.26}]
chr6 GH06I041269 41269171 41269524 0.45 [{'connected_gene': 'ENSG00000218809', 'score': 550.77}, {'connected_gene': 'TREM1', 'score': 9.68}, {'connected_gene': 'NFYA', 'score': 3.71}, {'connected_gene': 'TREML4', 'score': 2.36}, {'connected_gene': 'TREML2', 'score': 2.05}, {'connected_gene': 'TFEB', 'score': 2.02}, {'connected_gene': 'ENSG00000278745', 'score': 0.37}]
chr6 GH06I041271 41271001 41273316 1.27 [{'connected_gene': 'ENSG00000218809', 'score': 550.77}, {'connected_gene': 'TREM1', 'score': 41.56}, {'connected_gene': 'TREML4', 'score': 25.99}, {'connected_gene': 'NFYA', 'score': 9.7}, {'connected_gene': 'TREML3P', 'score': 9.27}, {'connected_gene': 'TFEB', 'score': 6.27}, {'connected_gene': 'TREML2', 'score': 6.09}, {'connected_gene': 'TREML1', 'score': 1.38}, {'connected_gene': 'GC06M041280', 'score': 0.44}]