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
ENST00000432027 [[41604619, 41604671], [41606476, 41606563], [41613863, 41614046], [41617356, 41617581], [41621056, 41621212]] [[41606487, 41606563], [41613863, 41614046], [41617356, 41617581], [41621056, 41621212]]
ENST00000419164 [[41604769, 41605011], [41605877, 41606113], [41606476, 41606563], [41613863, 41614046], [41617356, 41617581], [41621056, 41621266]] [[41606487, 41606563], [41613863, 41614046], [41617356, 41617581], [41621056, 41621266]]
ENST00000373051 [[41604805, 41605011], [41606476, 41606563], [41613863, 41614046], [41617356, 41617581], [41621056, 41621977]] [[41606487, 41606563], [41613863, 41614046], [41617356, 41617581], [41621056, 41621313]]
ENST00000441667 [[41606175, 41606223], [41606476, 41606563], [41613863, 41614046], [41617356, 41617391]] [[41606487, 41606563], [41613863, 41614046], [41617356, 41617391]]
ENST00000230321 [[41606184, 41606390], [41606476, 41606563], [41613863, 41614046], [41617356, 41617581], [41621056, 41621984]] [[41606487, 41606563], [41613863, 41614046], [41617356, 41617581], [41621056, 41621313]]
ENST00000373050 [[41606214, 41606390], [41606476, 41606563], [41617356, 41617581], [41621056, 41621377]] [[41606487, 41606563], [41617356, 41617581], [41621056, 41621313]]
ENST00000446650 [[41606236, 41606563], [41613863, 41614046], [41617356, 41617481]] [[41606487, 41606563], [41613863, 41614046], [41617356, 41617481]]
ENST00000435476 [[41606264, 41606563], [41617356, 41617581], [41621056, 41621182]] [[41606487, 41606563], [41617356, 41617581], [41621056, 41621182]]
ENST00000471092 [[41613991, 41614046], [41617356, 41617850]] None
NM_001300804 [[41604914, 41605011], [41605877, 41606113], [41606476, 41606563], [41613863, 41614046], [41617356, 41617581], [41621056, 41621982]] [[41606487, 41606563], [41613863, 41614046], [41617356, 41617581], [41621056, 41621313]]
NM_001300805 [[41606194, 41606390], [41606476, 41606563], [41617356, 41617581], [41621056, 41621982]] [[41606487, 41606563], [41617356, 41617581], [41621056, 41621313]]
NM_005586 [[41606194, 41606390], [41606476, 41606563], [41613863, 41614046], [41617356, 41617581], [41621056, 41621982]] [[41606487, 41606563], [41613863, 41614046], [41617356, 41617581], [41621056, 41621313]]
NM_001300806 [[41606194, 41606563], [41613863, 41614046], [41617356, 41617581], [41621056, 41621982]] [[41606487, 41606563], [41613863, 41614046], [41617356, 41617581], [41621056, 41621313]]
Promoter
Chrom Start End Description
chr6 41604725 41604741 CAGE_peak_4_at_MDFI_5end
chr6 41604747 41604796 CAGE_peak_1_at_MDFI_5end
chr6 41604890 41604947 CAGE_peak_2_at_MDFI_5end
chr6 41606180 41606244 CAGE_peak_3_at_MDFI_5end
chr6 41613840 41613845 CAGE_peak_18_at_MDFI_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I041766 41766431 41769768 1.23 [{'connected_gene': 'MED20', 'score': 13.96}, {'connected_gene': 'OARD1', 'score': 11.99}, {'connected_gene': 'C6orf132', 'score': 11.59}, {'connected_gene': 'MDFI', 'score': 9.89}, {'connected_gene': 'USP49', 'score': 9.75}, {'connected_gene': 'PGC', 'score': 7.1}, {'connected_gene': 'ENSG00000124593', 'score': 7.09}, {'connected_gene': 'ENSG00000269387', 'score': 0.77}, {'connected_gene': 'PIR31477', 'score': 0.77}]
chr6 GH06I041697 41697033 41700032 0.99 [{'connected_gene': 'TFEB', 'score': 17.55}, {'connected_gene': 'ENSG00000231102', 'score': 12.22}, {'connected_gene': 'PGC', 'score': 12.1}, {'connected_gene': 'MDFI', 'score': 10.59}, {'connected_gene': 'MED20', 'score': 4.99}, {'connected_gene': 'GC06M041707', 'score': 0.44}, {'connected_gene': 'GC06M041708', 'score': 0.44}, {'connected_gene': 'GC06P042391', 'score': 0.29}]
chr6 GH06I041715 41715836 41718128 0.97 [{'connected_gene': 'PGC', 'score': 12.77}, {'connected_gene': 'MDFI', 'score': 10.91}, {'connected_gene': 'ENSG00000124593', 'score': 10.82}, {'connected_gene': 'GC06P042399', 'score': 0.77}, {'connected_gene': 'ENSG00000231102', 'score': 0.77}, {'connected_gene': 'TFEB', 'score': 0.37}]
chr6 GH06I041653 41653026 41653690 0.67 [{'connected_gene': 'PGC', 'score': 10.18}, {'connected_gene': 'NPM1P51', 'score': 0.39}, {'connected_gene': 'MDFI', 'score': 0.37}]
chr6 GH06I041654 41654608 41655064 0.31 [{'connected_gene': 'PGC', 'score': 10.19}, {'connected_gene': 'NPM1P51', 'score': 0.39}, {'connected_gene': 'MDFI', 'score': 0.37}]
chr6 GH06I041595 41595044 41595578 0.38 [{'connected_gene': 'MDFI', 'score': 12.12}, {'connected_gene': 'FOXP4', 'score': 8.93}, {'connected_gene': 'MIR4641', 'score': 0.77}, {'connected_gene': 'GC06M041544', 'score': 0.44}]
chr6 GH06I041601 41601765 41603812 1.32 [{'connected_gene': 'MDFI', 'score': 12.15}, {'connected_gene': 'FOXP4', 'score': 9.89}, {'connected_gene': 'MIR4641', 'score': 0.77}]
chr6 GH06I041556 41556598 41557382 0.49 [{'connected_gene': 'MDFI', 'score': 10.2}, {'connected_gene': 'FOXP4', 'score': 10.01}, {'connected_gene': 'GC06P041980', 'score': 0.44}, {'connected_gene': 'GC06P041785', 'score': 0.44}, {'connected_gene': 'GC06M041544', 'score': 0.29}]
chr6 GH06I041558 41558483 41558632 0.58 [{'connected_gene': 'MDFI', 'score': 10.2}, {'connected_gene': 'GC06P041980', 'score': 0.44}, {'connected_gene': 'GC06P041785', 'score': 0.44}, {'connected_gene': 'FOXP4', 'score': 0.39}, {'connected_gene': 'GC06M041544', 'score': 0.29}]
chr6 GH06I041498 41498787 41500246 0.8 [{'connected_gene': 'MDFI', 'score': 10.47}, {'connected_gene': 'LINC01276', 'score': 0.77}, {'connected_gene': 'GC06M041477', 'score': 0.34}, {'connected_gene': 'FOXP4-AS1', 'score': 0.25}]
chr6 GH06I041594 41594423 41594572 0.4 [{'connected_gene': 'MDFI', 'score': 12.12}, {'connected_gene': 'GC06M041544', 'score': 0.77}, {'connected_gene': 'MIR4641', 'score': 0.77}, {'connected_gene': 'FOXP4', 'score': 0.25}]
chr6 GH06I041622 41622383 41622532 0.38 [{'connected_gene': 'MDFI', 'score': 0.39}, {'connected_gene': 'MIR4641', 'score': 0.34}]
chr6 GH06I041636 41636197 41641141 1.64 [{'connected_gene': 'MDFI', 'score': 550.77}, {'connected_gene': 'NPM1P51', 'score': 0.31}]
chr6 GH06I041655 41655574 41656976 0.82 [{'connected_gene': 'UBR2', 'score': 38.8}, {'connected_gene': 'TAF8', 'score': 20.13}, {'connected_gene': 'PGC', 'score': 10.19}, {'connected_gene': 'MED20', 'score': 9.89}, {'connected_gene': 'ENSG00000124593', 'score': 6.74}, {'connected_gene': 'NPM1P51', 'score': 0.39}, {'connected_gene': 'MDFI', 'score': 0.37}]
chr6 GH06I041592 41592063 41592252 1.1 [{'connected_gene': 'TAF8', 'score': 13.18}, {'connected_gene': 'MDFI', 'score': 11.41}, {'connected_gene': 'UBR2', 'score': 11.04}, {'connected_gene': 'GC06M041544', 'score': 0.77}, {'connected_gene': 'MIR4641', 'score': 0.44}, {'connected_gene': 'FOXP4', 'score': 0.25}]
chr6 GH06I041560 41560171 41563301 1.38 [{'connected_gene': 'FOXP4', 'score': 11.79}, {'connected_gene': 'MDFI', 'score': 10.53}, {'connected_gene': 'CCND3', 'score': 5.38}, {'connected_gene': 'NFYA', 'score': 1.47}, {'connected_gene': 'TAF8', 'score': 1.46}, {'connected_gene': 'TFEB', 'score': 1.16}, {'connected_gene': 'GC06P041980', 'score': 0.39}, {'connected_gene': 'GC06P041785', 'score': 0.39}, {'connected_gene': 'GC06M041544', 'score': 0.31}]
chr6 GH06I041565 41565054 41567602 0.52 [{'connected_gene': 'FOXP4', 'score': 12.08}, {'connected_gene': 'MDFI', 'score': 10.82}, {'connected_gene': 'GC06P041980', 'score': 0.37}, {'connected_gene': 'GC06P041785', 'score': 0.37}, {'connected_gene': 'GC06M041544', 'score': 0.34}]
chr6 GH06I041568 41568341 41571017 1.15 [{'connected_gene': 'FOXP4', 'score': 25.09}, {'connected_gene': 'FOXP4-AS1', 'score': 12.19}, {'connected_gene': 'MDFI', 'score': 10.83}, {'connected_gene': 'GC06M041544', 'score': 0.37}, {'connected_gene': 'GC06P041980', 'score': 0.34}, {'connected_gene': 'GC06P041785', 'score': 0.34}]
chr6 GH06I041502 41502372 41506408 1.52 [{'connected_gene': 'LINC01276', 'score': 550.77}, {'connected_gene': 'MDFI', 'score': 10.47}, {'connected_gene': 'FOXP4-AS1', 'score': 0.26}, {'connected_gene': 'FOXP4', 'score': 0.26}]
chr6 GH06I041596 41596045 41598298 0.43 [{'connected_gene': 'MIR4641', 'score': 550.77}, {'connected_gene': 'MDFI', 'score': 12.13}, {'connected_gene': 'FOXP4', 'score': 9.94}, {'connected_gene': 'ENSG00000124593', 'score': 5.68}, {'connected_gene': 'GC06M041544', 'score': 0.44}]
chr6 GH06I041598 41598314 41601118 0.46 [{'connected_gene': 'MIR4641', 'score': 550.77}, {'connected_gene': 'FOXP4', 'score': 15.38}, {'connected_gene': 'MDFI', 'score': 12.13}, {'connected_gene': 'ENSG00000124593', 'score': 6.1}]
chr6 GH06I041693 41693935 41694154 0.44 [{'connected_gene': 'ENSG00000231102', 'score': 11.45}, {'connected_gene': 'TFEB', 'score': 11.4}, {'connected_gene': 'PGC', 'score': 11.34}, {'connected_gene': 'MDFI', 'score': 11.13}, {'connected_gene': 'FRS3', 'score': 2.02}, {'connected_gene': 'GC06M041708', 'score': 0.39}, {'connected_gene': 'GC06M041707', 'score': 0.39}, {'connected_gene': 'GC06P042391', 'score': 0.31}]
chr6 GH06I041625 41625337 41626192 0.46 [{'connected_gene': 'ENSG00000231102', 'score': 10.13}, {'connected_gene': 'TFEB', 'score': 10.11}, {'connected_gene': 'PGC', 'score': 10.1}, {'connected_gene': 'MDFI', 'score': 0.39}, {'connected_gene': 'MIR4641', 'score': 0.31}]
chr6 GH06I041711 41711574 41715384 1.24 [{'connected_gene': 'GC06P042399', 'score': 550.77}, {'connected_gene': 'TFEB', 'score': 19.34}, {'connected_gene': 'PGC', 'score': 12.75}, {'connected_gene': 'MDFI', 'score': 10.91}, {'connected_gene': 'GC06M041708', 'score': 0.44}, {'connected_gene': 'GC06M041707', 'score': 0.44}]
chr6 GH06I041694 41694174 41695515 0.54 [{'connected_gene': 'ENSG00000231102', 'score': 12.19}, {'connected_gene': 'TFEB', 'score': 12.14}, {'connected_gene': 'PGC', 'score': 12.1}, {'connected_gene': 'MDFI', 'score': 11.13}, {'connected_gene': 'GC06M041708', 'score': 0.39}, {'connected_gene': 'GC06M041707', 'score': 0.39}, {'connected_gene': 'GC06P042391', 'score': 0.31}]
chr6 GH06I041698 41695640 41695852 0.31 [{'connected_gene': 'ENSG00000231102', 'score': 12.22}, {'connected_gene': 'TFEB', 'score': 12.14}, {'connected_gene': 'PGC', 'score': 12.1}, {'connected_gene': 'MDFI', 'score': 10.6}, {'connected_gene': 'GC06M041708', 'score': 0.39}, {'connected_gene': 'GC06M041707', 'score': 0.39}, {'connected_gene': 'GC06P042391', 'score': 0.31}]
chr6 GH06I041696 41696138 41696263 0.2 [{'connected_gene': 'ENSG00000231102', 'score': 12.22}, {'connected_gene': 'TFEB', 'score': 12.14}, {'connected_gene': 'PGC', 'score': 12.1}, {'connected_gene': 'MDFI', 'score': 10.6}, {'connected_gene': 'GC06M041708', 'score': 0.39}, {'connected_gene': 'GC06M041707', 'score': 0.39}, {'connected_gene': 'GC06P042391', 'score': 0.31}]
chr6 GH06I041695 41692956 41693726 0.43 [{'connected_gene': 'ENSG00000231102', 'score': 11.45}, {'connected_gene': 'TFEB', 'score': 11.4}, {'connected_gene': 'PGC', 'score': 11.34}, {'connected_gene': 'MDFI', 'score': 11.13}, {'connected_gene': 'GC06M041708', 'score': 0.39}, {'connected_gene': 'GC06M041707', 'score': 0.39}, {'connected_gene': 'GC06P042391', 'score': 0.31}]
chr6 GH06I041626 41626334 41627530 0.49 [{'connected_gene': 'ENSG00000231102', 'score': 10.13}, {'connected_gene': 'TFEB', 'score': 10.12}, {'connected_gene': 'PGC', 'score': 10.1}, {'connected_gene': 'FOXP4', 'score': 7.61}, {'connected_gene': 'MDFI', 'score': 0.44}, {'connected_gene': 'MIR4641', 'score': 0.31}]
chr6 GH06I041704 41704040 41708891 1.66 [{'connected_gene': 'GC06M041707', 'score': 550.77}, {'connected_gene': 'GC06M041708', 'score': 550.77}, {'connected_gene': 'TFEB', 'score': 20.47}, {'connected_gene': 'TAF8', 'score': 13.19}, {'connected_gene': 'PGC', 'score': 12.74}, {'connected_gene': 'UBR2', 'score': 11.04}, {'connected_gene': 'MDFI', 'score': 10.93}, {'connected_gene': 'TREML3P', 'score': 5.97}, {'connected_gene': 'ENSG00000124593', 'score': 5.93}, {'connected_gene': 'TREM1', 'score': 2.45}, {'connected_gene': 'GC06P042399', 'score': 0.44}]
chr6 GH06I041590 41590298 41591916 1.04 [{'connected_gene': 'GC06M041544', 'score': 550.77}, {'connected_gene': 'TAF8', 'score': 13.18}, {'connected_gene': 'MDFI', 'score': 11.39}, {'connected_gene': 'UBR2', 'score': 11.04}, {'connected_gene': 'FOXP4', 'score': 9.34}, {'connected_gene': 'ENSG00000124593', 'score': 6.46}, {'connected_gene': 'MIR4641', 'score': 0.44}]

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