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
ENST00000265843 [[108376157, 108385602], [108388961, 108389100], [108398862, 108398911], [108409750, 108409913], [108412378, 108412539], [108464144, 108464374]] [[108380263, 108385602], [108388961, 108389100], [108398862, 108398911], [108409750, 108409913], [108412378, 108412539], [108464144, 108464263]]
ENST00000443411 [[108376158, 108385602], [108388961, 108389100], [108408689, 108408934]] [[108380263, 108385602], [108388961, 108389028]]
ENST00000428840 [[108376158, 108385602], [108388961, 108389100], [108398862, 108398911], [108409750, 108409913], [108412378, 108412539], [108422746, 108422932]] [[108380263, 108385602], [108388961, 108389100], [108398862, 108398911], [108409750, 108409913], [108412378, 108412430]]
ENST00000525344 [[108379675, 108385602], [108388961, 108389100], [108398862, 108398911], [108409750, 108409913], [108412378, 108412539], [108464144, 108464231], [108464449, 108464465]] [[108380263, 108385602], [108388961, 108389100], [108398862, 108398911], [108409750, 108409913], [108412378, 108412539], [108464144, 108464231], [108464449, 108464460]]
ENST00000526312 [[108380805, 108385602], [108388961, 108389100], [108398862, 108398911], [108409750, 108409913], [108412378, 108412539], [108422746, 108422932]] [[108380805, 108385602], [108388961, 108389100], [108398862, 108398911], [108409750, 108409913], [108412378, 108412430]]
ENST00000533052 [[108382093, 108385602], [108388961, 108389100], [108408689, 108408934]] [[108382093, 108385602], [108388961, 108389028]]
ENST00000524840 [[108384133, 108385602], [108388961, 108389100], [108398862, 108398911], [108408689, 108408914]] None
ENST00000531386 [[108398889, 108398911], [108409750, 108409913], [108412378, 108412539], [108438644, 108438853]] [[108398889, 108398911], [108409750, 108409913], [108412378, 108412430]]
NM_001144764 [[108376157, 108385602], [108388961, 108389100], [108398862, 108398911], [108408689, 108408934]] [[108380263, 108385602], [108388961, 108389100], [108398862, 108398886]]
NM_001144765 [[108376157, 108385602], [108388961, 108389100], [108408689, 108408934]] [[108380263, 108385602], [108388961, 108389028]]
NM_001144763 [[108376157, 108385602], [108388961, 108389100], [108398862, 108398911], [108409750, 108409913], [108412378, 108412539], [108422746, 108422932]] [[108380263, 108385602], [108388961, 108389100], [108398862, 108398911], [108409750, 108409913], [108412378, 108412430]]
NM_015065 [[108376157, 108385602], [108388961, 108389100], [108398862, 108398911], [108409750, 108409913], [108412378, 108412539], [108464144, 108464374]] [[108380263, 108385602], [108388961, 108389100], [108398862, 108398911], [108409750, 108409913], [108412378, 108412539], [108464144, 108464263]]
NM_001308019 [[108376157, 108385602], [108388961, 108389100], [108398862, 108398911], [108409750, 108409913], [108412378, 108412539], [108464144, 108464231], [108464449, 108464465]] [[108380263, 108385602], [108388961, 108389100], [108398862, 108398911], [108409750, 108409913], [108412378, 108412539], [108464144, 108464231], [108464449, 108464460]]
Promoter
Chrom Start End Description
chr11 108408895 108408924 CAGE_peak_3_at_EXPH5_5end
chr11 108422926 108422937 CAGE_peak_13_at_EXPH5_5end
chr11 108422950 108422961 CAGE_peak_14_at_EXPH5_5end
chr11 108438755 108438763 CAGE_peak_20_at_EXPH5_5end
chr11 108438847 108438891 CAGE_peak_4_at_EXPH5_5end
chr11 108438997 108439013 CAGE_peak_6_at_EXPH5_5end
chr11 108464194 108464201 CAGE_peak_12_at_EXPH5_5end
chr11 108464281 108464304 CAGE_peak_5_at_EXPH5_5end
chr11 108464321 108464380 CAGE_peak_1_at_EXPH5_5end
chr11 108464403 108464414 CAGE_peak_7_at_EXPH5_5end
chr11 108464444 108464449 CAGE_peak_16_at_EXPH5_5end
chr11 108464469 108464507 CAGE_peak_2_at_EXPH5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I108647 108647400 108648979 1.21 [{'connected_gene': 'ACAT1', 'score': 11.34}, {'connected_gene': 'ENSG00000255467', 'score': 11.34}, {'connected_gene': 'DDX10', 'score': 0.37}, {'connected_gene': 'EXPH5', 'score': 0.23}]
chr11 GH11I108592 108592001 108594553 2.39 [{'connected_gene': 'EXPH5', 'score': 550.77}, {'connected_gene': 'LOC203930', 'score': 5.19}, {'connected_gene': 'GC11M108506', 'score': 0.17}]
chr11 GH11I108570 108570648 108572880 0.62 [{'connected_gene': 'EXPH5', 'score': 5.78}, {'connected_gene': 'LOC203930', 'score': 5.22}, {'connected_gene': 'GC11M108506', 'score': 0.21}]
chr11 GH11I108620 108620594 108623038 0.8 [{'connected_gene': 'EXPH5', 'score': 0.31}, {'connected_gene': 'DDX10', 'score': 0.26}]
chr11 GH11I108624 108624175 108625241 0.54 [{'connected_gene': 'DDX10', 'score': 10.82}, {'connected_gene': 'ACAT1', 'score': 10.19}, {'connected_gene': 'ENSG00000255467', 'score': 10.19}, {'connected_gene': 'EXPH5', 'score': 0.29}]
chr11 GH11I108634 108634443 108636043 0.38 [{'connected_gene': 'DDX10', 'score': 11.27}, {'connected_gene': 'ACAT1', 'score': 9.99}, {'connected_gene': 'ENSG00000255467', 'score': 9.99}, {'connected_gene': 'EXPH5', 'score': 0.26}]
chr11 GH11I108608 108608887 108610808 0.6 [{'connected_gene': 'DDX10', 'score': 10.27}, {'connected_gene': 'EXPH5', 'score': 0.37}]
chr11 GH11I108606 108606214 108607223 0.63 [{'connected_gene': 'DDX10', 'score': 10.27}, {'connected_gene': 'EXPH5', 'score': 5.65}]
chr11 GH11I108549 108549934 108550063 0.2 [{'connected_gene': 'DDX10', 'score': 9.92}, {'connected_gene': 'EXPH5', 'score': 0.26}, {'connected_gene': 'GC11M108506', 'score': 0.26}]
chr11 GH11I108614 108614888 108618493 1.35 [{'connected_gene': 'DDX10', 'score': 11.09}, {'connected_gene': 'KDELC2', 'score': 10.9}, {'connected_gene': 'LOC203930', 'score': 4.35}, {'connected_gene': 'EXPH5', 'score': 1.97}]
chr11 GH11I108559 108559364 108563438 0.69 [{'connected_gene': 'KDELC2', 'score': 34.21}, {'connected_gene': 'EXPH5', 'score': 10.91}, {'connected_gene': 'ATM', 'score': 4.57}, {'connected_gene': 'GC11M108506', 'score': 0.23}]
chr11 GH11I108524 108524594 108524687 0.63 [{'connected_gene': 'KDELC2', 'score': 11.45}, {'connected_gene': 'GC11M108506', 'score': 0.37}, {'connected_gene': 'EXPH5', 'score': 0.2}]
chr11 GH11I108518 108518220 108519636 0.2 [{'connected_gene': 'KDELC2', 'score': 17.87}, {'connected_gene': 'GC11M108506', 'score': 0.39}, {'connected_gene': 'EXPH5', 'score': 0.19}]
chr11 GH11I108588 108588783 108590313 0.54 [{'connected_gene': 'KDELC2', 'score': 10.09}, {'connected_gene': 'LOC203930', 'score': 5.19}, {'connected_gene': 'EXPH5', 'score': 0.77}, {'connected_gene': 'GC11M108506', 'score': 0.18}]
chr11 GH11I108537 108537694 108539164 0.43 [{'connected_gene': 'KDELC2', 'score': 11.2}, {'connected_gene': 'DDX10', 'score': 10.2}, {'connected_gene': 'ATM', 'score': 6.79}, {'connected_gene': 'GC11M108506', 'score': 0.29}, {'connected_gene': 'EXPH5', 'score': 0.22}]
chr11 GH11I108551 108551023 108552990 1.07 [{'connected_gene': 'KDELC2', 'score': 31.3}, {'connected_gene': 'DDX10', 'score': 9.81}, {'connected_gene': 'EXPH5', 'score': 0.26}, {'connected_gene': 'GC11M108506', 'score': 0.26}]
chr11 GH11I108543 108543132 108544789 0.2 [{'connected_gene': 'KDELC2', 'score': 11.16}, {'connected_gene': 'DDX10', 'score': 10.19}, {'connected_gene': 'GC11M108506', 'score': 0.28}, {'connected_gene': 'EXPH5', 'score': 0.25}]
chr11 GH11I108511 108511544 108512573 0.38 [{'connected_gene': 'GC11M108506', 'score': 0.44}, {'connected_gene': 'LOC101928561', 'score': 0.39}, {'connected_gene': 'EXPH5', 'score': 0.18}]