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
ENST00000421054 [[25276775, 25276976], [25279088, 25279184], [25280705, 25280847], [25281716, 25281747]] [[25276934, 25276976], [25279088, 25279184]]
ENST00000276414 [[25276777, 25276976], [25279088, 25279184], [25280705, 25282170]] [[25276934, 25276976], [25279088, 25279184], [25280705, 25280846]]
NM_000825 [[25276773, 25276976], [25279088, 25279184], [25280705, 25282556]] [[25276934, 25276976], [25279088, 25279184], [25280705, 25280858]]
NM_001083111 [[25276773, 25276976], [25279088, 25279184], [25280705, 25280847], [25281716, 25282556]] [[25276934, 25276976], [25279088, 25279184]]
Promoter
Chrom Start End Description
chr8 25281776 25281779 CAGE_peak_1_at_GNRH1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I025271 25271745 25271954 0.58 [{'connected_gene': 'DOCK5', 'score': 11.52}, {'connected_gene': 'GNRH1', 'score': 10.92}, {'connected_gene': 'CDCA2', 'score': 9.4}, {'connected_gene': 'KCTD9', 'score': 9.4}, {'connected_gene': 'GC08M025303', 'score': 0.29}]
chr8 GH08I025275 25275665 25276939 0.78 [{'connected_gene': 'DOCK5', 'score': 11.5}, {'connected_gene': 'GNRH1', 'score': 11.04}, {'connected_gene': 'GC08M025303', 'score': 0.31}]
chr8 GH08I025392 25392423 25393716 0.95 [{'connected_gene': 'KCTD9', 'score': 19.08}, {'connected_gene': 'GNRH1', 'score': 12.63}, {'connected_gene': 'CDCA2', 'score': 10.8}, {'connected_gene': 'PIR37075', 'score': 0.39}, {'connected_gene': 'GC08P025414', 'score': 0.34}, {'connected_gene': 'GC08M025389', 'score': 0.26}, {'connected_gene': 'DOCK5', 'score': 0.08}]
chr8 GH08I025453 25453902 25460574 2.3 [{'connected_gene': 'KCTD9', 'score': 560.82}, {'connected_gene': 'CDCA2', 'score': 550.77}, {'connected_gene': 'GNRH1', 'score': 22.58}, {'connected_gene': 'ENSG00000253476', 'score': 11.5}, {'connected_gene': 'NEFM', 'score': 4.38}, {'connected_gene': 'GC08P025445', 'score': 0.39}]
chr8 GH08I025269 25269494 25270677 0.43 [{'connected_gene': 'GNRH1', 'score': 10.53}, {'connected_gene': 'GC08M025303', 'score': 0.28}, {'connected_gene': 'DOCK5', 'score': 0.17}]
chr8 GH08I025997 25997399 26000414 0.97 [{'connected_gene': 'GNRH1', 'score': 30.45}, {'connected_gene': 'ENSG00000253476', 'score': 14.57}, {'connected_gene': 'EBF2', 'score': 11.82}, {'connected_gene': 'KCTD9', 'score': 10.17}, {'connected_gene': 'GC08M025942', 'score': 0.22}]
chr8 GH08I025367 25365064 25365951 0.31 [{'connected_gene': 'GNRH1', 'score': 11.29}, {'connected_gene': 'CDCA2', 'score': 10.48}, {'connected_gene': 'KCTD9', 'score': 10.48}, {'connected_gene': 'DOCK5', 'score': 5.56}, {'connected_gene': 'LOC105379331', 'score': 0.77}, {'connected_gene': 'PIR37075', 'score': 0.39}]
chr8 GH08I025370 25370482 25371082 0.31 [{'connected_gene': 'GNRH1', 'score': 11.44}, {'connected_gene': 'CDCA2', 'score': 10.93}, {'connected_gene': 'KCTD9', 'score': 10.93}, {'connected_gene': 'DOCK5', 'score': 6.46}, {'connected_gene': 'PIR37075', 'score': 0.44}, {'connected_gene': 'LOC105379331', 'score': 0.44}]
chr8 GH08I025366 25366934 25367455 0.31 [{'connected_gene': 'GNRH1', 'score': 11.43}, {'connected_gene': 'CDCA2', 'score': 10.92}, {'connected_gene': 'KCTD9', 'score': 10.92}, {'connected_gene': 'DOCK5', 'score': 5.44}, {'connected_gene': 'LOC105379331', 'score': 0.44}, {'connected_gene': 'PIR37075', 'score': 0.39}]
chr8 GH08I025369 25369296 25370379 0.2 [{'connected_gene': 'GNRH1', 'score': 11.43}, {'connected_gene': 'CDCA2', 'score': 10.93}, {'connected_gene': 'KCTD9', 'score': 10.93}, {'connected_gene': 'DOCK5', 'score': 6.39}, {'connected_gene': 'PIR37075', 'score': 0.44}, {'connected_gene': 'LOC105379331', 'score': 0.44}]
chr8 GH08I025368 25367835 25368407 0.63 [{'connected_gene': 'GNRH1', 'score': 16.64}, {'connected_gene': 'CDCA2', 'score': 10.92}, {'connected_gene': 'KCTD9', 'score': 10.92}, {'connected_gene': 'DOCK5', 'score': 4.52}, {'connected_gene': 'LOC105379331', 'score': 0.44}, {'connected_gene': 'PIR37075', 'score': 0.39}]
chr8 GH08I025318 25318100 25321049 1.23 [{'connected_gene': 'GNRH1', 'score': 11.24}, {'connected_gene': 'CDCA2', 'score': 10.37}, {'connected_gene': 'KCTD9', 'score': 10.37}, {'connected_gene': 'GC08M025315', 'score': 0.77}, {'connected_gene': 'GC08M025303', 'score': 0.39}, {'connected_gene': 'DOCK5', 'score': 0.12}]
chr8 GH08I025390 25390941 25391655 0.31 [{'connected_gene': 'GNRH1', 'score': 12.63}, {'connected_gene': 'CDCA2', 'score': 10.8}, {'connected_gene': 'KCTD9', 'score': 10.8}, {'connected_gene': 'NEFM', 'score': 4.35}, {'connected_gene': 'PIR37075', 'score': 0.39}, {'connected_gene': 'GC08P025414', 'score': 0.34}, {'connected_gene': 'GC08M025389', 'score': 0.26}, {'connected_gene': 'DOCK5', 'score': 0.08}]
chr8 GH08I025365 25365981 25366562 0.49 [{'connected_gene': 'GNRH1', 'score': 11.29}, {'connected_gene': 'CDCA2', 'score': 10.48}, {'connected_gene': 'KCTD9', 'score': 10.48}, {'connected_gene': 'LOC105379331', 'score': 0.77}, {'connected_gene': 'PIR37075', 'score': 0.39}, {'connected_gene': 'DOCK5', 'score': 0.09}]
chr8 GH08I025328 25328625 25328774 0.58 [{'connected_gene': 'GNRH1', 'score': 11.53}, {'connected_gene': 'CDCA2', 'score': 10.18}, {'connected_gene': 'KCTD9', 'score': 10.18}, {'connected_gene': 'GC08M025315', 'score': 0.44}, {'connected_gene': 'MIR6876', 'score': 0.37}, {'connected_gene': 'DOCK5', 'score': 0.11}]
chr8 GH08I025329 25328305 25328454 0.4 [{'connected_gene': 'GNRH1', 'score': 11.53}, {'connected_gene': 'CDCA2', 'score': 10.17}, {'connected_gene': 'KCTD9', 'score': 10.17}, {'connected_gene': 'GC08M025315', 'score': 0.44}, {'connected_gene': 'MIR6876', 'score': 0.37}, {'connected_gene': 'DOCK5', 'score': 0.11}]
chr8 GH08I025461 25461401 25461600 0.2 [{'connected_gene': 'GNRH1', 'score': 10.16}, {'connected_gene': 'CDCA2', 'score': 0.77}, {'connected_gene': 'GC08P025445', 'score': 0.37}, {'connected_gene': 'GC08P025504', 'score': 0.26}]
chr8 GH08I025424 25424251 25424310 0.61 [{'connected_gene': 'GNRH1', 'score': 550.77}, {'connected_gene': 'GC08P025414', 'score': 0.44}, {'connected_gene': 'GC08M025389', 'score': 0.39}]
chr8 GH08I025425 25424692 25424751 0.5 [{'connected_gene': 'GNRH1', 'score': 550.77}, {'connected_gene': 'ENSG00000253476', 'score': 550.77}, {'connected_gene': 'GC08P025414', 'score': 0.44}, {'connected_gene': 'GC08M025389', 'score': 0.39}]
chr8 GH08I025321 25321816 25324403 0.46 [{'connected_gene': 'GC08M025315', 'score': 550.77}, {'connected_gene': 'DOCK5', 'score': 11.18}, {'connected_gene': 'GNRH1', 'score': 11.0}, {'connected_gene': 'MIR6876', 'score': 0.34}]
chr8 GH08I025307 25307524 25310297 1.1 [{'connected_gene': 'ENSG00000253476', 'score': 13.72}, {'connected_gene': 'GNRH1', 'score': 11.6}, {'connected_gene': 'DOCK5', 'score': 5.13}, {'connected_gene': 'GC08M025303', 'score': 0.77}, {'connected_gene': 'GC08M025315', 'score': 0.39}]
chr8 GH08I025418 25418265 25418454 0.76 [{'connected_gene': 'GC08P025414', 'score': 0.77}, {'connected_gene': 'GNRH1', 'score': 0.44}, {'connected_gene': 'GC08M025389', 'score': 0.37}]
chr8 GH08I026348 26348938 26351112 0.46 [{'connected_gene': 'GC08M026286', 'score': 550.77}, {'connected_gene': 'SDAD1P1', 'score': 18.65}, {'connected_gene': 'GNRH1', 'score': 10.24}, {'connected_gene': 'BNIP3L', 'score': 0.29}, {'connected_gene': 'PPP2R2A', 'score': 0.22}]