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
ENST00000260270 [[110300606, 110301029], [110306557, 110306682], [110327641, 110327771], [110333077, 110335605]] [[110300844, 110301029], [110306557, 110306682], [110327641, 110327771], [110333077, 110333192]]
NM_004109 [[110300660, 110301029], [110306557, 110306682], [110327641, 110327771], [110333077, 110335608]] [[110300844, 110301029], [110306557, 110306682], [110327641, 110327771], [110333077, 110333192]]
Promoter
Chrom Start End Description
chr11 110300622 110300692 CAGE_peak_1_at_FDX1_5end
chr11 110300693 110300720 CAGE_peak_3_at_FDX1_5end
chr11 110300811 110300825 CAGE_peak_4_at_FDX1_5end
chr11 110300868 110300900 CAGE_peak_2_at_FDX1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I110311 110311326 110312989 1.38 [{'connected_gene': 'ZC3H12C', 'score': 10.29}, {'connected_gene': 'RDX', 'score': 8.78}, {'connected_gene': 'FDX1', 'score': 1.5}, {'connected_gene': 'LOC105369486', 'score': 0.26}]
chr11 GH11I110497 110497133 110497588 0.53 [{'connected_gene': 'ZC3H12C', 'score': 10.93}, {'connected_gene': 'FDX1', 'score': 1.76}, {'connected_gene': 'RDX', 'score': 1.46}, {'connected_gene': 'GC11P110684', 'score': 0.09}]
chr11 GH11I110490 110490801 110491400 0.74 [{'connected_gene': 'ZC3H12C', 'score': 9.67}, {'connected_gene': 'FDX1', 'score': 1.62}, {'connected_gene': 'RDX', 'score': 1.35}, {'connected_gene': 'GC11P110684', 'score': 0.08}]
chr11 GH11I110091 110091570 110095913 2.49 [{'connected_gene': 'ZC3H12C', 'score': 574.68}, {'connected_gene': 'FDX1', 'score': 1.95}, {'connected_gene': 'RDX', 'score': 1.72}, {'connected_gene': 'GC11P110167', 'score': 0.19}]
chr11 GH11I109999 109999404 110001249 1.33 [{'connected_gene': 'ZC3H12C', 'score': 26.04}, {'connected_gene': 'FDX1', 'score': 1.19}, {'connected_gene': 'ENSG00000270423', 'score': 0.39}, {'connected_gene': 'LOC390250', 'score': 0.25}]
chr11 GH11I110068 110068331 110070640 1.59 [{'connected_gene': 'ZC3H12C', 'score': 11.55}, {'connected_gene': 'FDX1', 'score': 1.49}, {'connected_gene': 'LOC390250', 'score': 0.37}]
chr11 GH11I110086 110086506 110087744 1.28 [{'connected_gene': 'ZC3H12C', 'score': 570.41}, {'connected_gene': 'FDX1', 'score': 1.69}, {'connected_gene': 'LOC390250', 'score': 0.28}]
chr11 GH11I110074 110074879 110079474 1.57 [{'connected_gene': 'ZC3H12C', 'score': 7.59}, {'connected_gene': 'FDX1', 'score': 1.26}, {'connected_gene': 'LOC390250', 'score': 0.31}]
chr11 GH11I110475 110475401 110476212 0.2 [{'connected_gene': 'LOC644277', 'score': 10.22}, {'connected_gene': 'POU2AF1', 'score': 10.22}, {'connected_gene': 'FDX1', 'score': 0.25}, {'connected_gene': 'GC11P110684', 'score': 0.08}]
chr11 GH11I110316 110316691 110321214 1.51 [{'connected_gene': 'RDX', 'score': 21.2}, {'connected_gene': 'ZC3H12C', 'score': 6.35}, {'connected_gene': 'FDX1', 'score': 1.27}, {'connected_gene': 'LOC105369486', 'score': 0.28}]
chr11 GH11I110292 110292512 110300049 2.22 [{'connected_gene': 'RDX', 'score': 559.75}, {'connected_gene': 'FDX1', 'score': 4.64}, {'connected_gene': 'GC11M110268', 'score': 0.34}]
chr11 GH11I110493 110493388 110493712 0.28 [{'connected_gene': 'FDX1', 'score': 8.4}, {'connected_gene': 'ZC3H12C', 'score': 7.91}, {'connected_gene': 'RDX', 'score': 1.59}, {'connected_gene': 'GC11P110684', 'score': 0.08}]
chr11 GH11I110347 110347145 110350464 1.24 [{'connected_gene': 'FDX1', 'score': 15.93}, {'connected_gene': 'RDX', 'score': 14.03}, {'connected_gene': 'ZC3H12C', 'score': 9.01}, {'connected_gene': 'LOC105369486', 'score': 7.06}]
chr11 GH11I110564 110564628 110566204 0.64 [{'connected_gene': 'FDX1', 'score': 6.82}, {'connected_gene': 'LINC02550', 'score': 4.98}, {'connected_gene': 'GC11P110684', 'score': 0.13}]
chr11 GH11I110372 110372380 110375623 1.3 [{'connected_gene': 'FDX1', 'score': 22.98}, {'connected_gene': 'LOC105369486', 'score': 11.07}, {'connected_gene': 'ZC3H12C', 'score': 9.53}, {'connected_gene': 'RDX', 'score': 5.39}, {'connected_gene': 'PIR61577', 'score': 0.26}]
chr11 GH11I110378 110378580 110382489 0.68 [{'connected_gene': 'FDX1', 'score': 30.74}, {'connected_gene': 'LOC105369486', 'score': 7.16}, {'connected_gene': 'RDX', 'score': 2.41}, {'connected_gene': 'PIR61577', 'score': 0.28}]
chr11 GH11I110447 110447174 110447525 0.35 [{'connected_gene': 'FDX1', 'score': 19.12}, {'connected_gene': 'LOC105369486', 'score': 6.86}, {'connected_gene': 'GC11P110684', 'score': 0.07}]
chr11 GH11I110376 110376297 110378326 1.02 [{'connected_gene': 'FDX1', 'score': 22.07}, {'connected_gene': 'LOC105369486', 'score': 0.34}, {'connected_gene': 'PIR61577', 'score': 0.28}]
chr11 GH11I110405 110405250 110406493 0.49 [{'connected_gene': 'FDX1', 'score': 5.08}, {'connected_gene': 'PIR61577', 'score': 0.39}, {'connected_gene': 'LOC105369486', 'score': 0.23}]
chr11 GH11I110427 110427905 110435398 2.19 [{'connected_gene': 'FDX1', 'score': 569.83}, {'connected_gene': 'ENSG00000271390', 'score': 4.85}, {'connected_gene': 'GC11P110684', 'score': 0.07}]
chr11 GH11I110436 110436417 110436566 0.69 [{'connected_gene': 'FDX1', 'score': 10.7}, {'connected_gene': 'GC11P110684', 'score': 0.07}]
chr11 GH11I110498 110497717 110497866 0.2 [{'connected_gene': 'FDX1', 'score': 0.2}, {'connected_gene': 'GC11P110684', 'score': 0.09}]
chr11 GH11I110525 110525137 110526961 0.4 [{'connected_gene': 'FDX1', 'score': 5.85}, {'connected_gene': 'GC11P110684', 'score': 0.1}]
chr11 GH11I110524 110524297 110524446 0.31 [{'connected_gene': 'FDX1', 'score': 0.16}, {'connected_gene': 'GC11P110684', 'score': 0.1}]
chr11 GH11I110513 110513023 110514266 0.2 [{'connected_gene': 'FDX1', 'score': 7.35}, {'connected_gene': 'GC11P110684', 'score': 0.09}]
chr11 GH11I110470 110470986 110472233 0.2 [{'connected_gene': 'FDX1', 'score': 16.02}, {'connected_gene': 'GC11P110684', 'score': 0.08}]
chr11 GH11I110491 110491557 110492800 0.63 [{'connected_gene': 'FDX1', 'score': 13.35}, {'connected_gene': 'GC11P110684', 'score': 0.08}]
chr11 GH11I110478 110478637 110478666 0.52 [{'connected_gene': 'FDX1', 'score': 0.25}, {'connected_gene': 'GC11P110684', 'score': 0.08}]
chr11 GH11I110425 110425379 110426946 0.78 [{'connected_gene': 'FDX1', 'score': 19.45}, {'connected_gene': 'PIR61577', 'score': 0.44}]
chr11 GH11I110479 110479043 110480200 0.96 [{'connected_gene': 'COLCA2', 'score': 31.31}, {'connected_gene': 'ZC3H12C', 'score': 22.29}, {'connected_gene': 'FDX1', 'score': 14.86}, {'connected_gene': 'GC11P110684', 'score': 0.08}]
chr11 GH11I110354 110354498 110358690 1.29 [{'connected_gene': 'LOC105369486', 'score': 571.38}, {'connected_gene': 'RDX', 'score': 18.24}, {'connected_gene': 'FDX1', 'score': 12.41}, {'connected_gene': 'ZC3H12C', 'score': 7.86}, {'connected_gene': 'PIR61577', 'score': 0.21}]