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
ENST00000377507 [[7979906, 7980983], [7993221, 7993356], [7995072, 7995203], [7997749, 7997816], [7998252, 7998390], [7998780, 7998888], [7999954, 8000138], [8000843, 8000926]] [[7980894, 7980983], [7993221, 7993356], [7995072, 7995203], [7997749, 7997816], [7998252, 7998390], [7998780, 7998888], [7999954, 8000054]]
ENST00000492571 [[7993186, 7993356], [7995072, 7995203], [7996519, 7996623], [7997749, 7997816], [7998252, 7998364]] [[7996574, 7996623], [7997749, 7997816], [7998252, 7998364]]
ENST00000474475 [[7981859, 7982081], [7993221, 7993356], [7995072, 7995160]] [[7982040, 7982081], [7993221, 7993356], [7995072, 7995160]]
NM_001561 [[7975930, 7980983], [7993221, 7993356], [7995072, 7995203], [7997749, 7997816], [7998252, 7998390], [7998780, 7998888], [7999954, 8000138], [8000843, 8000993], [8003198, 8003225]] [[7980894, 7980983], [7993221, 7993356], [7995072, 7995203], [7997749, 7997816], [7998252, 7998390], [7998780, 7998888], [7999954, 8000054]]
Promoter
Chrom Start End Description
chr1 8000872 8000922 CAGE_peak_1_at_TNFRSF9_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I007706 7706161 7706310 0.31 [{'connected_gene': 'VAMP3', 'score': 11.01}, {'connected_gene': 'ENSG00000236266', 'score': 10.2}, {'connected_gene': 'PER3', 'score': 10.16}, {'connected_gene': 'TNFRSF9', 'score': 10.07}, {'connected_gene': 'LOC105376689', 'score': 0.77}, {'connected_gene': 'CAMTA1', 'score': 0.03}]
chr1 GH01I007752 7752401 7753530 0.97 [{'connected_gene': 'PER3', 'score': 10.6}, {'connected_gene': 'TNFRSF9', 'score': 9.91}, {'connected_gene': 'ENSG00000270171', 'score': 5.53}, {'connected_gene': 'ENSG00000270035', 'score': 4.86}, {'connected_gene': 'VAMP3', 'score': 0.37}, {'connected_gene': 'LOC105376689', 'score': 0.25}, {'connected_gene': 'CAMTA1', 'score': 0.03}]
chr1 GH01I008283 8283021 8284137 0.96 [{'connected_gene': 'SLC45A1', 'score': 11.31}, {'connected_gene': 'TNFRSF9', 'score': 10.23}, {'connected_gene': 'GC01M008275', 'score': 0.44}, {'connected_gene': 'RNU6-991P', 'score': 0.44}]
chr1 GH01I008010 8010072 8010390 1.03 [{'connected_gene': 'SLC45A1', 'score': 12.81}, {'connected_gene': 'PARK7', 'score': 11.04}, {'connected_gene': 'TNFRSF9', 'score': 10.41}, {'connected_gene': 'ERRFI1', 'score': 3.09}, {'connected_gene': 'PER3', 'score': 1.45}, {'connected_gene': 'GC01P008012', 'score': 0.77}, {'connected_gene': 'ENSG00000284716', 'score': 0.39}]
chr1 GH01I008007 8007581 8007710 0.58 [{'connected_gene': 'SLC45A1', 'score': 11.28}, {'connected_gene': 'PARK7', 'score': 11.05}, {'connected_gene': 'TNFRSF9', 'score': 10.42}, {'connected_gene': 'GC01P008012', 'score': 0.77}, {'connected_gene': 'ENSG00000284716', 'score': 0.44}, {'connected_gene': 'ERRFI1', 'score': 0.37}]
chr1 GH01I008012 8007301 8007421 0.63 [{'connected_gene': 'SLC45A1', 'score': 11.28}, {'connected_gene': 'PARK7', 'score': 11.05}, {'connected_gene': 'TNFRSF9', 'score': 10.42}, {'connected_gene': 'GC01P008012', 'score': 0.77}, {'connected_gene': 'ENSG00000284716', 'score': 0.44}, {'connected_gene': 'ERRFI1', 'score': 0.37}]
chr1 GH01I008009 8008681 8008810 0.63 [{'connected_gene': 'SLC45A1', 'score': 11.28}, {'connected_gene': 'PARK7', 'score': 11.05}, {'connected_gene': 'TNFRSF9', 'score': 10.41}, {'connected_gene': 'GC01P008012', 'score': 0.77}, {'connected_gene': 'ENSG00000284716', 'score': 0.44}, {'connected_gene': 'ERRFI1', 'score': 0.37}]
chr1 GH01I008014 8009161 8009310 0.66 [{'connected_gene': 'SLC45A1', 'score': 11.28}, {'connected_gene': 'PARK7', 'score': 11.05}, {'connected_gene': 'TNFRSF9', 'score': 10.41}, {'connected_gene': 'GC01P008012', 'score': 0.77}, {'connected_gene': 'ENSG00000284716', 'score': 0.44}, {'connected_gene': 'ERRFI1', 'score': 0.37}]
chr1 GH01I008008 8007941 8008070 0.4 [{'connected_gene': 'SLC45A1', 'score': 11.28}, {'connected_gene': 'PARK7', 'score': 11.05}, {'connected_gene': 'TNFRSF9', 'score': 10.42}, {'connected_gene': 'GC01P008012', 'score': 0.77}, {'connected_gene': 'ENSG00000284716', 'score': 0.44}, {'connected_gene': 'ERRFI1', 'score': 0.37}]
chr1 GH01I008426 8426478 8429034 1.28 [{'connected_gene': 'RERE', 'score': 18.29}, {'connected_gene': 'ENSG00000221083', 'score': 11.13}, {'connected_gene': 'TNFRSF9', 'score': 1.62}, {'connected_gene': 'LOC102724552', 'score': 0.77}, {'connected_gene': 'PIR35776', 'score': 0.37}, {'connected_gene': 'GC01M008444', 'score': 0.37}]
chr1 GH01I007890 7890842 7890858 0.35 [{'connected_gene': 'TNFRSF9', 'score': 1.78}, {'connected_gene': 'SLC45A1', 'score': 1.34}, {'connected_gene': 'UTS2', 'score': 0.34}, {'connected_gene': 'ENSG00000236266', 'score': 0.21}]
chr1 GH01I007887 7887590 7887875 0.22 [{'connected_gene': 'TNFRSF9', 'score': 2.53}, {'connected_gene': 'UTS2', 'score': 0.31}, {'connected_gene': 'ENSG00000236266', 'score': 0.21}]
chr1 GH01I007921 7921734 7922855 0.2 [{'connected_gene': 'UTS2', 'score': 23.55}, {'connected_gene': 'PER3', 'score': 10.47}, {'connected_gene': 'PARK7', 'score': 9.34}, {'connected_gene': 'PIR36767', 'score': 0.44}, {'connected_gene': 'TNFRSF9', 'score': 0.34}]
chr1 GH01I007912 7912676 7913652 0.77 [{'connected_gene': 'UTS2', 'score': 584.35}, {'connected_gene': 'TNFRSF9', 'score': 11.58}, {'connected_gene': 'VAMP3', 'score': 10.48}, {'connected_gene': 'PER3', 'score': 10.35}, {'connected_gene': 'SLC45A1', 'score': 9.43}, {'connected_gene': 'ENSG00000238290', 'score': 8.86}, {'connected_gene': 'ENSG00000236266', 'score': 0.17}]
chr1 GH01I007703 7703724 7706031 1.47 [{'connected_gene': 'LOC105376689', 'score': 550.77}, {'connected_gene': 'PER3', 'score': 17.02}, {'connected_gene': 'ENSG00000270171', 'score': 11.42}, {'connected_gene': 'VAMP3', 'score': 11.01}, {'connected_gene': 'SLC45A1', 'score': 10.49}, {'connected_gene': 'ENSG00000236266', 'score': 10.2}, {'connected_gene': 'TNFRSF9', 'score': 10.07}, {'connected_gene': 'CAMTA1', 'score': 5.63}]
chr1 GH01I008011 8010995 8011503 0.43 [{'connected_gene': 'GC01P008012', 'score': 550.77}, {'connected_gene': 'SLC45A1', 'score': 11.28}, {'connected_gene': 'PARK7', 'score': 11.04}, {'connected_gene': 'TNFRSF9', 'score': 10.41}, {'connected_gene': 'ENSG00000284716', 'score': 0.39}, {'connected_gene': 'ERRFI1', 'score': 0.37}]
chr1 GH01I007940 7940001 7943200 1.63 [{'connected_gene': 'GC01P007941', 'score': 550.77}, {'connected_gene': 'TNFRSF9', 'score': 550.77}, {'connected_gene': 'ENSG00000270330', 'score': 550.77}, {'connected_gene': 'UTS2', 'score': 17.85}, {'connected_gene': 'RERE', 'score': 9.68}, {'connected_gene': 'LOC100129776', 'score': 4.57}]
chr1 GH01I007948 7948982 7949556 0.56 [{'connected_gene': 'GC01P007952', 'score': 0.77}, {'connected_gene': 'GC01P007941', 'score': 0.44}, {'connected_gene': 'TNFRSF9', 'score': 0.44}]
chr1 GH01I008126 8126602 8128404 1.19 [{'connected_gene': 'ENSG00000238290', 'score': 10.94}, {'connected_gene': 'PARK7', 'score': 5.64}, {'connected_gene': 'VAMP3', 'score': 1.76}, {'connected_gene': 'TNFRSF9', 'score': 1.55}, {'connected_gene': 'LOC100129776', 'score': 0.21}, {'connected_gene': 'RPL7AP18', 'score': 0.2}]
chr1 GH01I007993 7993156 7994944 1.38 [{'connected_gene': 'ENSG00000238290', 'score': 41.3}, {'connected_gene': 'PARK7', 'score': 11.6}, {'connected_gene': 'ERRFI1', 'score': 11.51}, {'connected_gene': 'SLC45A1', 'score': 10.89}, {'connected_gene': 'TNFRSF9', 'score': 10.38}, {'connected_gene': 'PER3', 'score': 9.07}, {'connected_gene': 'VAMP3', 'score': 8.8}, {'connected_gene': 'ENSG00000284747', 'score': 0.77}, {'connected_gene': 'ENSG00000284716', 'score': 0.44}]
chr1 GH01I007991 7991225 7992943 0.52 [{'connected_gene': 'ENSG00000284747', 'score': 550.77}, {'connected_gene': 'ENSG00000238290', 'score': 17.77}, {'connected_gene': 'PARK7', 'score': 11.6}, {'connected_gene': 'ERRFI1', 'score': 11.51}, {'connected_gene': 'SLC45A1', 'score': 10.89}, {'connected_gene': 'TNFRSF9', 'score': 10.4}, {'connected_gene': 'PER3', 'score': 9.07}, {'connected_gene': 'VAMP3', 'score': 8.8}, {'connected_gene': 'ENSG00000284716', 'score': 0.44}]
chr1 GH01I008002 8002830 8007092 1.44 [{'connected_gene': 'ENSG00000238290', 'score': 41.21}, {'connected_gene': 'PARK7', 'score': 30.08}, {'connected_gene': 'ERRFI1', 'score': 11.36}, {'connected_gene': 'SLC45A1', 'score': 11.28}, {'connected_gene': 'LINC01714', 'score': 10.59}, {'connected_gene': 'RNU1-7P', 'score': 10.59}, {'connected_gene': 'TNFRSF9', 'score': 10.42}, {'connected_gene': 'UTS2', 'score': 9.6}, {'connected_gene': 'PER3', 'score': 9.39}, {'connected_gene': 'GC01P008012', 'score': 0.44}, {'connected_gene': 'ENSG00000284716', 'score': 0.44}, {'connected_gene': 'ENSG00000284747', 'score': 0.39}]
chr1 GH01I007929 7929606 7931819 0.64 [{'connected_gene': 'PIR36767', 'score': 550.77}, {'connected_gene': 'PARK7', 'score': 25.24}, {'connected_gene': 'UTS2', 'score': 16.03}, {'connected_gene': 'VAMP3', 'score': 10.32}, {'connected_gene': 'SLC45A1', 'score': 9.48}, {'connected_gene': 'GC01P007941', 'score': 0.39}, {'connected_gene': 'TNFRSF9', 'score': 0.39}]