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
ENST00000458379 [[5842898, 5844862], [5851400, 5851460]] [[5843764, 5844850]]
ENST00000589918 [[5842901, 5844862], [5846436, 5846575], [5851400, 5851482]] [[5843764, 5844850]]
ENST00000303225 [[5842901, 5844862], [5846436, 5846977], [5851400, 5851482]] [[5843764, 5844850]]
ENST00000589620 [[5842901, 5844862], [5846436, 5846629], [5851400, 5851485]] [[5843764, 5844850]]
ENST00000589714 [[5844529, 5844862], [5846436, 5846610], [5851400, 5851460]] [[5844529, 5844850]]
ENST00000587048 [[5844550, 5844862], [5846436, 5846629], [5848844, 5848916]] [[5844550, 5844850]]
ENST00000585715 [[5844717, 5844862], [5846436, 5847045]] [[5844717, 5844850]]
ENST00000587183 [[5844836, 5844862], [5846436, 5846977], [5848750, 5848782]] [[5844836, 5844850]]
ENST00000593144 [[5846575, 5846977], [5847593, 5847705], [5848844, 5848912]] None
ENST00000588539 [[5846817, 5846977], [5847593, 5847719], [5849488, 5849556], [5850177, 5850330]] None
NM_000149 [[5842898, 5844862], [5846436, 5846977], [5851400, 5851485]] [[5843764, 5844850]]
NM_001097639 [[5842898, 5844862], [5846436, 5846629], [5851400, 5851485]] [[5843764, 5844850]]
NM_001097640 [[5842898, 5844862], [5846436, 5846575], [5851400, 5851485]] [[5843764, 5844850]]
NM_001097641 [[5842898, 5844862], [5851400, 5851485]] [[5843764, 5844850]]
Promoter
Chrom Start End Description
chr19 5846526 5846542 CAGE_peak_3_at_FUT3_5end
chr19 5846552 5846559 CAGE_peak_6_at_FUT3_5end
chr19 5846627 5846646 CAGE_peak_4_at_FUT3_5end
chr19 5846676 5846682 CAGE_peak_7_at_FUT3_5end
chr19 5851442 5851487 CAGE_peak_1_at_FUT3_5end
chr19 5851531 5851546 CAGE_peak_2_at_FUT3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I005802 5802310 5802499 0.71 [{'connected_gene': 'LONP1', 'score': 11.84}, {'connected_gene': 'CATSPERD', 'score': 11.84}, {'connected_gene': 'FUT6', 'score': 11.79}, {'connected_gene': 'FUT3', 'score': 11.76}, {'connected_gene': 'FUT5', 'score': 11.54}, {'connected_gene': 'NDUFA11', 'score': 11.49}, {'connected_gene': 'VMAC', 'score': 11.49}, {'connected_gene': 'NRTN', 'score': 0.77}, {'connected_gene': 'DUS3L', 'score': 0.39}]
chr19 GH19I005932 5932324 5937448 0.88 [{'connected_gene': 'CAPS', 'score': 20.18}, {'connected_gene': 'RANBP3', 'score': 12.2}, {'connected_gene': 'NDUFA11', 'score': 12.2}, {'connected_gene': 'VMAC', 'score': 12.2}, {'connected_gene': 'FUT5', 'score': 12.12}, {'connected_gene': 'FUT3', 'score': 11.1}, {'connected_gene': 'FUT6', 'score': 11.08}, {'connected_gene': 'ENSG00000267571', 'score': 0.34}, {'connected_gene': 'GC19P005968', 'score': 0.29}]
chr19 GH19I005928 5928857 5930499 0.43 [{'connected_gene': 'CAPS', 'score': 15.16}, {'connected_gene': 'VMAC', 'score': 12.49}, {'connected_gene': 'NDUFA11', 'score': 12.47}, {'connected_gene': 'FUT5', 'score': 12.38}, {'connected_gene': 'FUT3', 'score': 11.14}, {'connected_gene': 'FUT6', 'score': 11.13}, {'connected_gene': 'ENSG00000267571', 'score': 0.37}, {'connected_gene': 'GC19P005968', 'score': 0.28}, {'connected_gene': 'RANBP3', 'score': 0.25}]
chr19 GH19I005913 5913665 5916971 1.55 [{'connected_gene': 'CAPS', 'score': 569.79}, {'connected_gene': 'ENSG00000267571', 'score': 550.77}, {'connected_gene': 'FUT3', 'score': 11.1}, {'connected_gene': 'FUT6', 'score': 11.07}, {'connected_gene': 'CATSPERD', 'score': 10.55}, {'connected_gene': 'ENSG00000267314', 'score': 0.39}, {'connected_gene': 'GC19P005968', 'score': 0.23}, {'connected_gene': 'RANBP3', 'score': 0.21}]
chr19 GH19I005925 5925732 5928381 0.77 [{'connected_gene': 'CAPS', 'score': 17.74}, {'connected_gene': 'NDUFA11', 'score': 12.49}, {'connected_gene': 'VMAC', 'score': 12.49}, {'connected_gene': 'FUT5', 'score': 12.38}, {'connected_gene': 'FUT3', 'score': 11.14}, {'connected_gene': 'FUT6', 'score': 11.13}, {'connected_gene': 'ENSG00000267571', 'score': 0.39}, {'connected_gene': 'GC19P005968', 'score': 0.26}, {'connected_gene': 'RANBP3', 'score': 0.23}]
chr19 GH19I005798 5798947 5799863 1.17 [{'connected_gene': 'DUS3L', 'score': 47.97}, {'connected_gene': 'LONP1', 'score': 11.84}, {'connected_gene': 'CATSPERD', 'score': 11.84}, {'connected_gene': 'FUT6', 'score': 11.77}, {'connected_gene': 'FUT3', 'score': 11.74}, {'connected_gene': 'FUT5', 'score': 11.53}, {'connected_gene': 'NDUFA11', 'score': 11.49}, {'connected_gene': 'VMAC', 'score': 11.48}, {'connected_gene': 'NRTN', 'score': 6.06}]
chr19 GH19I005794 5794190 5794419 0.74 [{'connected_gene': 'DUS3L', 'score': 60.49}, {'connected_gene': 'LONP1', 'score': 11.85}, {'connected_gene': 'CATSPERD', 'score': 11.85}, {'connected_gene': 'FUT6', 'score': 11.76}, {'connected_gene': 'FUT3', 'score': 11.73}, {'connected_gene': 'FUT5', 'score': 11.52}, {'connected_gene': 'NDUFA11', 'score': 11.48}, {'connected_gene': 'VMAC', 'score': 11.47}, {'connected_gene': 'NRTN', 'score': 0.39}]
chr19 GH19I005803 5803601 5807021 1.47 [{'connected_gene': 'NRTN', 'score': 555.71}, {'connected_gene': 'DUS3L', 'score': 40.98}, {'connected_gene': 'SAFB2', 'score': 19.64}, {'connected_gene': 'KHSRP', 'score': 13.21}, {'connected_gene': 'GTF2F1', 'score': 12.94}, {'connected_gene': 'FUT6', 'score': 11.78}, {'connected_gene': 'FUT3', 'score': 11.74}, {'connected_gene': 'FUT5', 'score': 11.3}, {'connected_gene': 'NDUFA11', 'score': 11.25}, {'connected_gene': 'VMAC', 'score': 11.25}, {'connected_gene': 'RANBP3', 'score': 10.42}]
chr19 GH19I005843 5843334 5843854 0.43 [{'connected_gene': 'NRTN', 'score': 9.68}, {'connected_gene': 'FUT6', 'score': 0.77}, {'connected_gene': 'LOC101928844', 'score': 0.77}, {'connected_gene': 'FUT3', 'score': 0.44}]
chr19 GH19I005956 5956312 5970192 1.66 [{'connected_gene': 'VMAC', 'score': 40.44}, {'connected_gene': 'ENSG00000267571', 'score': 31.63}, {'connected_gene': 'CAPS', 'score': 27.08}, {'connected_gene': 'DUS3L', 'score': 24.32}, {'connected_gene': 'NDUFA11', 'score': 23.82}, {'connected_gene': 'GPR108', 'score': 23.2}, {'connected_gene': 'FUT5', 'score': 19.53}, {'connected_gene': 'ACSBG2', 'score': 19.42}, {'connected_gene': 'SAFB', 'score': 12.1}, {'connected_gene': 'KDM4B', 'score': 11.53}, {'connected_gene': 'FUT3', 'score': 11.49}, {'connected_gene': 'FUT6', 'score': 11.49}, {'connected_gene': 'KHSRP', 'score': 10.63}, {'connected_gene': 'SNRPEP4', 'score': 9.68}, {'connected_gene': 'SLC25A41', 'score': 8.52}, {'connected_gene': 'PRR22', 'score': 7.99}, {'connected_gene': 'CATSPERD', 'score': 5.97}, {'connected_gene': 'NRTN', 'score': 2.56}, {'connected_gene': 'PSPN', 'score': 2.11}, {'connected_gene': 'RFX2', 'score': 1.26}, {'connected_gene': 'GC19P005968', 'score': 0.44}, {'connected_gene': 'RANBP3', 'score': 0.37}]
chr19 GH19I005850 5850466 5851903 1.17 [{'connected_gene': 'FUT3', 'score': 550.77}, {'connected_gene': 'NRTN', 'score': 16.72}, {'connected_gene': 'DUS3L', 'score': 11.75}, {'connected_gene': 'PRR22', 'score': 11.73}, {'connected_gene': 'CATSPERD', 'score': 11.65}, {'connected_gene': 'LOC101928844', 'score': 0.77}]
chr19 GH19I005945 5945910 5956204 1.65 [{'connected_gene': 'NDUFA11', 'score': 20.09}, {'connected_gene': 'CAPS', 'score': 19.45}, {'connected_gene': 'FUT5', 'score': 15.06}, {'connected_gene': 'VMAC', 'score': 11.83}, {'connected_gene': 'ACSBG2', 'score': 11.15}, {'connected_gene': 'FUT3', 'score': 10.91}, {'connected_gene': 'FUT6', 'score': 10.89}, {'connected_gene': 'SAFB2', 'score': 1.56}, {'connected_gene': 'GC19P005968', 'score': 0.37}, {'connected_gene': 'RANBP3', 'score': 0.31}, {'connected_gene': 'ENSG00000267571', 'score': 0.28}]
chr19 GH19I005939 5939378 5940338 0.31 [{'connected_gene': 'NDUFA11', 'score': 12.02}, {'connected_gene': 'VMAC', 'score': 12.02}, {'connected_gene': 'FUT5', 'score': 11.95}, {'connected_gene': 'FUT3', 'score': 10.89}, {'connected_gene': 'FUT6', 'score': 10.87}, {'connected_gene': 'GC19P005968', 'score': 0.31}, {'connected_gene': 'ENSG00000267571', 'score': 0.31}, {'connected_gene': 'RANBP3', 'score': 0.28}]
chr19 GH19I005930 5930623 5932009 0.31 [{'connected_gene': 'NDUFA11', 'score': 12.22}, {'connected_gene': 'VMAC', 'score': 12.22}, {'connected_gene': 'FUT5', 'score': 12.12}, {'connected_gene': 'FUT3', 'score': 10.92}, {'connected_gene': 'FUT6', 'score': 10.89}, {'connected_gene': 'ENSG00000267571', 'score': 0.37}, {'connected_gene': 'GC19P005968', 'score': 0.28}, {'connected_gene': 'RANBP3', 'score': 0.25}]
chr19 GH19I005920 5920962 5922758 0.31 [{'connected_gene': 'NDUFA11', 'score': 13.93}, {'connected_gene': 'FUT3', 'score': 10.63}, {'connected_gene': 'FUT6', 'score': 10.61}, {'connected_gene': 'CAPS', 'score': 5.36}, {'connected_gene': 'ENSG00000267571', 'score': 0.44}, {'connected_gene': 'GC19P005968', 'score': 0.25}, {'connected_gene': 'RANBP3', 'score': 0.22}]
chr19 GH19I005845 5845030 5845305 0.38 [{'connected_gene': 'LOC101928844', 'score': 0.77}, {'connected_gene': 'FUT6', 'score': 0.44}, {'connected_gene': 'FUT3', 'score': 0.44}]
chr19 GH19I005851 5845908 5846121 0.2 [{'connected_gene': 'LOC101928844', 'score': 550.77}, {'connected_gene': 'FUT6', 'score': 0.44}, {'connected_gene': 'FUT3', 'score': 0.44}]
chr19 GH19I005846 5846610 5846759 0.63 [{'connected_gene': 'LOC101928844', 'score': 550.77}, {'connected_gene': 'FUT3', 'score': 0.77}, {'connected_gene': 'FUT6', 'score': 0.44}]
chr19 GH19I005849 5849340 5849567 0.31 [{'connected_gene': 'LOC101928844', 'score': 550.77}, {'connected_gene': 'FUT3', 'score': 0.77}]
chr19 GH19I005847 5847571 5847827 0.2 [{'connected_gene': 'LOC101928844', 'score': 550.77}, {'connected_gene': 'FUT3', 'score': 0.77}]
chr19 GH19I005848 5847897 5848313 0.2 [{'connected_gene': 'LOC101928844', 'score': 550.77}, {'connected_gene': 'FUT3', 'score': 0.77}]
chr19 GH19I005889 5889383 5890107 0.63 [{'connected_gene': 'GC19P005889', 'score': 550.77}, {'connected_gene': 'CAPS', 'score': 23.58}, {'connected_gene': 'NDUFA11', 'score': 20.43}, {'connected_gene': 'FUT3', 'score': 12.4}, {'connected_gene': 'FUT6', 'score': 12.37}, {'connected_gene': 'ENSG00000267740', 'score': 0.39}, {'connected_gene': 'ENSG00000266941', 'score': 0.39}]