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
ENST00000370905 [[53512698, 53517128], [53518898, 53520103], [53530398, 53530506]] [[53516395, 53517128], [53518898, 53520070]]
ENST00000407079 [[53516395, 53517128], [53518898, 53520070]] [[53516395, 53517128], [53518898, 53520070]]
NM_001003760 [[53512698, 53517128], [53518898, 53520103], [53530398, 53530506]] [[53516395, 53517128], [53518898, 53520070]]
Promoter
Chrom Start End Description
chr6 53530474 53530508 CAGE_peak_4_at_KLHL31_5end
chr6 53530518 53530543 CAGE_peak_2_at_KLHL31_5end
chr6 53530546 53530564 CAGE_peak_1_at_KLHL31_5end
chr6 53530573 53530581 CAGE_peak_7_at_KLHL31_5end
chr6 53530582 53530594 CAGE_peak_5_at_KLHL31_5end
chr6 53530600 53530633 CAGE_peak_3_at_KLHL31_5end
chr6 53530653 53530666 CAGE_peak_6_at_KLHL31_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I054162 54162778 54163138 0.34 [{'connected_gene': 'MLIP', 'score': 7.52}, {'connected_gene': 'KLHL31', 'score': 2.06}, {'connected_gene': 'GC06P054160', 'score': 0.77}, {'connected_gene': 'LOC105375097', 'score': 0.31}]
chr6 GH06I053791 53791954 53797782 2.45 [{'connected_gene': 'LRRC1', 'score': 565.12}, {'connected_gene': 'ENSG00000228614', 'score': 550.77}, {'connected_gene': 'KLHL31', 'score': 13.36}, {'connected_gene': 'MLIP-IT1', 'score': 8.51}, {'connected_gene': 'ENSG00000227885', 'score': 4.84}, {'connected_gene': 'PIR32511', 'score': 0.17}]
chr6 GH06I053737 53737182 53738829 0.52 [{'connected_gene': 'LRRC1', 'score': 18.63}, {'connected_gene': 'ENSG00000228614', 'score': 11.57}, {'connected_gene': 'KLHL31', 'score': 10.97}, {'connected_gene': 'MLIP-IT1', 'score': 9.79}, {'connected_gene': 'ENSG00000227885', 'score': 0.44}]
chr6 GH06I053743 53743951 53745282 0.69 [{'connected_gene': 'LRRC1', 'score': 11.6}, {'connected_gene': 'ENSG00000228614', 'score': 11.6}, {'connected_gene': 'ENSG00000227885', 'score': 9.54}, {'connected_gene': 'KLHL31', 'score': 0.18}]
chr6 GH06I053854 53854329 53856024 0.88 [{'connected_gene': 'LRRC1', 'score': 15.97}, {'connected_gene': 'ENSG00000228614', 'score': 11.08}, {'connected_gene': 'MLIP-IT1', 'score': 5.6}, {'connected_gene': 'KLHL31', 'score': 4.3}, {'connected_gene': 'LOC101927189', 'score': 4.28}, {'connected_gene': 'PIR32511', 'score': 0.31}, {'connected_gene': 'GC06M053813', 'score': 0.26}]
chr6 GH06I053664 53664205 53665805 1.13 [{'connected_gene': 'KLHL31', 'score': 556.75}, {'connected_gene': 'GCLC', 'score': 5.41}, {'connected_gene': 'LINC01564', 'score': 0.28}]
chr6 GH06I053679 53679503 53679967 1.06 [{'connected_gene': 'KLHL31', 'score': 6.43}, {'connected_gene': 'GCLC', 'score': 5.5}, {'connected_gene': 'ENSG00000227885', 'score': 0.2}]
chr6 GH06I053492 53492643 53493800 0.97 [{'connected_gene': 'KLHL31', 'score': 10.76}, {'connected_gene': 'GC06M053483', 'score': 0.77}, {'connected_gene': 'GC06P053483', 'score': 0.39}, {'connected_gene': 'LOC105375095', 'score': 0.37}]
chr6 GH06I053690 53690303 53693383 0.31 [{'connected_gene': 'KLHL31', 'score': 11.53}, {'connected_gene': 'LINC01564', 'score': 10.35}, {'connected_gene': 'ENSG00000227885', 'score': 0.22}]
chr6 GH06I053733 53733371 53736353 1.03 [{'connected_gene': 'KLHL31', 'score': 11.03}, {'connected_gene': 'MLIP-IT1', 'score': 9.71}, {'connected_gene': 'LRRC1', 'score': 7.44}, {'connected_gene': 'ENSG00000227885', 'score': 0.39}]
chr6 GH06I053697 53697977 53699359 0.2 [{'connected_gene': 'KLHL31', 'score': 16.6}, {'connected_gene': 'MLIP-IT1', 'score': 7.88}, {'connected_gene': 'ENSG00000227885', 'score': 0.25}]
chr6 GH06I053770 53770255 53771910 0.43 [{'connected_gene': 'KLHL31', 'score': 8.67}, {'connected_gene': 'ENSG00000228614', 'score': 0.34}, {'connected_gene': 'ENSG00000227885', 'score': 0.34}]
chr6 GH06I053728 53728401 53728999 0.84 [{'connected_gene': 'KLHL31', 'score': 4.96}, {'connected_gene': 'ENSG00000227885', 'score': 0.37}]
chr6 GH06I053701 53701763 53701912 0.51 [{'connected_gene': 'KLHL31', 'score': 10.74}, {'connected_gene': 'ENSG00000227885', 'score': 0.25}]
chr6 GH06I053702 53702044 53702660 0.51 [{'connected_gene': 'KLHL31', 'score': 10.74}, {'connected_gene': 'ENSG00000227885', 'score': 0.26}]
chr6 GH06I053725 53725923 53726201 0.96 [{'connected_gene': 'KLHL31', 'score': 4.9}, {'connected_gene': 'ENSG00000227885', 'score': 0.34}]
chr6 GH06I053718 53718523 53719776 0.68 [{'connected_gene': 'KLHL31', 'score': 18.47}, {'connected_gene': 'ENSG00000227885', 'score': 7.39}]
chr6 GH06I053673 53673283 53673452 1.03 [{'connected_gene': 'KLHL31', 'score': 7.36}, {'connected_gene': 'ENSG00000227885', 'score': 0.19}]
chr6 GH06I053650 53650549 53652800 1.45 [{'connected_gene': 'GCLC', 'score': 6.34}, {'connected_gene': 'KLHL31', 'score': 6.05}, {'connected_gene': 'GSTA4', 'score': 4.34}, {'connected_gene': 'LINC01564', 'score': 0.34}]
chr6 GH06I053658 53658359 53660498 0.46 [{'connected_gene': 'GCLC', 'score': 7.26}, {'connected_gene': 'KLHL31', 'score': 6.59}, {'connected_gene': 'LINC01564', 'score': 0.29}]
chr6 GH06I053646 53646988 53648295 0.99 [{'connected_gene': 'GCLC', 'score': 8.83}, {'connected_gene': 'LINC01564', 'score': 0.37}, {'connected_gene': 'KLHL31', 'score': 0.37}]
chr6 GH06I053685 53685743 53688036 0.83 [{'connected_gene': 'LOC105375095', 'score': 10.4}, {'connected_gene': 'GSTA4', 'score': 9.91}, {'connected_gene': 'KLHL31', 'score': 0.34}, {'connected_gene': 'ENSG00000227885', 'score': 0.21}]
chr6 GH06I053812 53812642 53815207 0.59 [{'connected_gene': 'LOC101927189', 'score': 17.68}, {'connected_gene': 'MLIP', 'score': 10.62}, {'connected_gene': 'LRRC1', 'score': 8.62}, {'connected_gene': 'KLHL31', 'score': 5.3}, {'connected_gene': 'PIR32511', 'score': 0.19}, {'connected_gene': 'GC06M053813', 'score': 0.18}]
chr6 GH06I053825 53825226 53830819 1.12 [{'connected_gene': 'LOC101927189', 'score': 16.28}, {'connected_gene': 'MLIP-IT1', 'score': 11.16}, {'connected_gene': 'MLIP', 'score': 10.66}, {'connected_gene': 'LRRC1', 'score': 8.51}, {'connected_gene': 'KLHL31', 'score': 7.66}, {'connected_gene': 'PIR32511', 'score': 0.22}, {'connected_gene': 'GC06M053813', 'score': 0.19}]
chr6 GH06I053635 53635463 53635612 0.58 [{'connected_gene': 'LINC01564', 'score': 0.44}, {'connected_gene': 'KLHL31', 'score': 0.29}]
chr6 GH06I053627 53627115 53630054 1.25 [{'connected_gene': 'LINC01564', 'score': 564.43}, {'connected_gene': 'KLHL31', 'score': 0.28}]
chr6 GH06I053740 53740993 53742185 0.63 [{'connected_gene': 'MLIP-IT1', 'score': 9.69}, {'connected_gene': 'LRRC1', 'score': 7.41}, {'connected_gene': 'KLHL31', 'score': 7.16}, {'connected_gene': 'ENSG00000227885', 'score': 4.59}]
chr6 GH06I053722 53722477 53725538 0.6 [{'connected_gene': 'MLIP-IT1', 'score': 9.1}, {'connected_gene': 'KLHL31', 'score': 8.42}, {'connected_gene': 'ENSG00000227885', 'score': 5.88}, {'connected_gene': 'LRRC1', 'score': 4.49}]
chr6 GH06I053751 53751884 53753978 0.56 [{'connected_gene': 'MLIP-IT1', 'score': 10.29}, {'connected_gene': 'ENSG00000227885', 'score': 9.04}, {'connected_gene': 'KLHL31', 'score': 8.59}, {'connected_gene': 'LRRC1', 'score': 8.0}, {'connected_gene': 'ENSG00000228614', 'score': 0.26}]
chr6 GH06I053861 53861404 53865128 0.66 [{'connected_gene': 'MLIP-IT1', 'score': 11.92}, {'connected_gene': 'LOC101927189', 'score': 5.36}, {'connected_gene': 'KLHL31', 'score': 5.29}, {'connected_gene': 'LRRC1', 'score': 4.64}, {'connected_gene': 'PIR32511', 'score': 0.34}, {'connected_gene': 'GC06M053813', 'score': 0.28}]
chr6 GH06I053982 53982141 53985138 0.76 [{'connected_gene': 'GC06P053984', 'score': 550.77}, {'connected_gene': 'MLIP', 'score': 23.12}, {'connected_gene': 'MLIP-IT1', 'score': 18.0}, {'connected_gene': 'LOC101927189', 'score': 10.78}, {'connected_gene': 'MLIP-AS1', 'score': 10.62}, {'connected_gene': 'KLHL31', 'score': 4.73}, {'connected_gene': 'PIR57668', 'score': 0.26}]
chr6 GH06I053494 53494990 53498012 0.64 [{'connected_gene': 'GC06M053483', 'score': 550.77}, {'connected_gene': 'KLHL31', 'score': 10.77}, {'connected_gene': 'LOC105375095', 'score': 6.79}, {'connected_gene': 'GCLC', 'score': 6.12}, {'connected_gene': 'GC06P053483', 'score': 0.39}]
chr6 GH06I053746 53746421 53747225 0.52 [{'connected_gene': 'ENSG00000227885', 'score': 550.77}, {'connected_gene': 'KLHL31', 'score': 8.6}]
chr6 GH06I053727 53727863 53728012 0.31 [{'connected_gene': 'ENSG00000227885', 'score': 0.37}, {'connected_gene': 'KLHL31', 'score': 0.21}]
chr6 GH06I052877 52877303 52877492 0.6 [{'connected_gene': 'GC06P052876', 'score': 550.77}, {'connected_gene': 'GSTA3', 'score': 11.09}, {'connected_gene': 'KLHL31', 'score': 6.96}, {'connected_gene': 'LOC105375091', 'score': 0.77}, {'connected_gene': 'GSTA10P', 'score': 0.39}]