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
ENST00000221166 [[24770524, 24772386], [24773117, 24773242], [24774573, 24776606]] [[24771306, 24772386], [24773117, 24773242], [24774573, 24776119]]
ENST00000523467 [[24771270, 24771317], [24771939, 24772386], [24773117, 24773205]] None
ENST00000518131 [[24771273, 24772386], [24773117, 24773242], [24774573, 24775129], [24775783, 24776489]] [[24771306, 24772386], [24773117, 24773242], [24774573, 24775129], [24775783, 24776119]]
ENST00000521540 [[24771276, 24772386], [24773117, 24773242], [24774573, 24774925], [24775830, 24776128]] None
ENST00000437366 [[24771276, 24772386], [24773117, 24773242], [24774573, 24775244], [24775361, 24776603]] [[24771306, 24772386], [24773117, 24773242], [24774573, 24775244], [24775361, 24776119]]
ENST00000433454 [[24772454, 24772810], [24773117, 24773242], [24774573, 24776607]] [[24773165, 24773242], [24774573, 24776119]]
NM_005382 [[24771273, 24772386], [24773117, 24773242], [24774573, 24776606]] [[24771306, 24772386], [24773117, 24773242], [24774573, 24776119]]
NM_001105541 [[24772454, 24772810], [24773117, 24773242], [24774573, 24776606]] [[24773165, 24773242], [24774573, 24776119]]
Promoter
Chrom Start End Description
chr8 24771265 24771282 CAGE_peak_1_at_NEFM_5end
chr8 24772490 24772535 CAGE_peak_12_at_NEFM_5end
chr8 24773123 24773130 CAGE_peak_18_at_NEFM_5end
chr8 24773140 24773144 CAGE_peak_20_at_NEFM_5end
chr8 24773147 24773196 CAGE_peak_5_at_NEFM_5end
chr8 24773203 24773219 CAGE_peak_16_at_NEFM_5end
chr8 24774356 24774378 CAGE_peak_19_at_NEFM_5end
chr8 24774582 24774597 CAGE_peak_7_at_NEFM_5end
chr8 24774600 24774620 CAGE_peak_11_at_NEFM_5end
chr8 24774622 24774647 CAGE_peak_2_at_NEFM_5end
chr8 24774653 24774683 CAGE_peak_9_at_NEFM_5end
chr8 24774685 24774698 CAGE_peak_8_at_NEFM_5end
chr8 24774703 24774742 CAGE_peak_6_at_NEFM_5end
chr8 24774749 24774825 CAGE_peak_3_at_NEFM_5end
chr8 24774877 24774889 CAGE_peak_14_at_NEFM_5end
chr8 24774895 24774913 CAGE_peak_13_at_NEFM_5end
chr8 24774987 24775001 CAGE_peak_4_at_NEFM_5end
chr8 24775132 24775141 CAGE_peak_15_at_NEFM_5end
chr8 24775143 24775154 CAGE_peak_10_at_NEFM_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH08I024766 24766933 24766983 0.22 [{'connected_gene': 'NEFL', 'score': 2.26}, {'connected_gene': 'NEFM', 'score': 1.78}, {'connected_gene': 'GC08M024686', 'score': 0.18}, {'connected_gene': 'PIR40819', 'score': 0.15}, {'connected_gene': 'ENSG00000253535', 'score': 0.11}]
chr8 GH08I024955 24955001 24956970 1.63 [{'connected_gene': 'NEFL', 'score': 555.42}, {'connected_gene': 'PIR37905', 'score': 550.77}, {'connected_gene': 'ENSG00000272157', 'score': 550.77}, {'connected_gene': 'NEFM', 'score': 11.69}, {'connected_gene': 'ENSG00000253535', 'score': 11.69}, {'connected_gene': 'GC08M024931', 'score': 0.15}]
chr8 GH08I025112 25112733 25113935 0.2 [{'connected_gene': 'NEFM', 'score': 9.14}, {'connected_gene': 'ENSG00000253535', 'score': 9.14}, {'connected_gene': 'DOCK5', 'score': 7.41}, {'connected_gene': 'PIR41590', 'score': 0.39}, {'connected_gene': 'LOC100421161', 'score': 0.31}]
chr8 GH08I025384 25384822 25386014 1.17 [{'connected_gene': 'NEFM', 'score': 5.32}, {'connected_gene': 'PIR37075', 'score': 0.44}, {'connected_gene': 'GC08P025414', 'score': 0.31}, {'connected_gene': 'DOCK5', 'score': 0.08}]
chr8 GH08I024941 24941430 24942800 1.12 [{'connected_gene': 'NEFM', 'score': 26.5}, {'connected_gene': 'ENSG00000253535', 'score': 11.2}, {'connected_gene': 'NEFL', 'score': 6.57}, {'connected_gene': 'PIR55047', 'score': 0.39}, {'connected_gene': 'LOC105379329', 'score': 0.37}, {'connected_gene': 'GC08M024931', 'score': 0.13}]
chr8 GH08I024998 24998266 25001933 1.46 [{'connected_gene': 'NEFM', 'score': 29.34}, {'connected_gene': 'ENSG00000253476', 'score': 11.25}, {'connected_gene': 'ENSG00000253535', 'score': 11.0}, {'connected_gene': 'LOC105379330', 'score': 0.44}, {'connected_gene': 'GC08M024931', 'score': 0.21}]
chr8 GH08I025002 25002586 25004328 0.84 [{'connected_gene': 'NEFM', 'score': 10.2}, {'connected_gene': 'ENSG00000253535', 'score': 10.2}, {'connected_gene': 'LOC105379330', 'score': 0.39}, {'connected_gene': 'GC08M024931', 'score': 0.22}]
chr8 GH08I025052 25052086 25052235 0.2 [{'connected_gene': 'NEFM', 'score': 9.88}, {'connected_gene': 'ENSG00000253535', 'score': 9.87}, {'connected_gene': 'GC08M024931', 'score': 0.44}, {'connected_gene': 'LOC105379330', 'score': 0.21}]
chr8 GH08I025049 25049846 25049995 0.43 [{'connected_gene': 'NEFM', 'score': 9.61}, {'connected_gene': 'ENSG00000253535', 'score': 9.61}, {'connected_gene': 'GC08M024931', 'score': 0.39}, {'connected_gene': 'LOC105379330', 'score': 0.22}]
chr8 GH08I024943 24943168 24943317 0.38 [{'connected_gene': 'NEFM', 'score': 11.22}, {'connected_gene': 'ENSG00000253535', 'score': 11.22}, {'connected_gene': 'PIR55047', 'score': 0.44}, {'connected_gene': 'LOC105379329', 'score': 0.37}, {'connected_gene': 'GC08M024931', 'score': 0.13}]
chr8 GH08I024912 24912748 24915800 1.45 [{'connected_gene': 'NEFM', 'score': 550.77}, {'connected_gene': 'ENSG00000272163', 'score': 550.77}, {'connected_gene': 'LOC105379329', 'score': 0.39}]
chr8 GH08I024105 24105621 24106899 0.31 [{'connected_gene': 'NEFM', 'score': 5.06}, {'connected_gene': 'GC08P024089', 'score': 0.37}, {'connected_gene': 'LOC105379328', 'score': 0.37}, {'connected_gene': 'ENSG00000253891', 'score': 0.19}]
chr8 GH08I025072 25072411 25075470 0.76 [{'connected_gene': 'NEFM', 'score': 15.26}, {'connected_gene': 'ENSG00000253535', 'score': 10.15}, {'connected_gene': 'GC08M024931', 'score': 0.39}, {'connected_gene': 'PIR41590', 'score': 0.31}]
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 GH08I024534 24534988 24535647 0.43 [{'connected_gene': 'LOC101929315', 'score': 22.76}, {'connected_gene': 'NEFM', 'score': 9.33}, {'connected_gene': 'ENSG00000253535', 'score': 9.33}, {'connected_gene': 'GC08M024540', 'score': 0.44}, {'connected_gene': 'LOC101929294', 'score': 0.39}, {'connected_gene': 'GC08P024089', 'score': 0.05}]

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