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
ENST00000302190 [[97505578, 97506559], [97605707, 97605819], [97614622, 97614756], [97620562, 97620698], [97621612, 97624000]] [[97506499, 97506559], [97605707, 97605819], [97614622, 97614756], [97620562, 97620698], [97621612, 97621776]]
ENST00000520233 [[97506040, 97506559], [97549527, 97549571]] None
ENST00000519587 [[97506040, 97506271], [97541420, 97541499], [97549527, 97549653], [97550923, 97551044]] None
ENST00000518385 [[97506040, 97506563], [97614622, 97614756], [97620562, 97620698], [97621612, 97622402]] [[97506499, 97506563], [97614622, 97614756], [97620562, 97620698], [97621612, 97621776]]
ENST00000522911 [[97506235, 97506271], [97605707, 97605819], [97614622, 97614756], [97620562, 97620698], [97621612, 97621871]] [[97605734, 97605819], [97614622, 97614756], [97620562, 97620698], [97621612, 97621776]]
ENST00000519914 [[97592576, 97592796], [97605707, 97605819], [97614622, 97614756], [97620562, 97620698], [97621612, 97622328]] [[97605734, 97605819], [97614622, 97614756], [97620562, 97620698], [97621612, 97621776]]
ENST00000521590 [[97597172, 97597241], [97605707, 97605819], [97614622, 97614756], [97620562, 97620698], [97621612, 97621668]] [[97605734, 97605819], [97614622, 97614756], [97620562, 97620698], [97621612, 97621668]]
ENST00000523877 [[97598614, 97598772], [97605707, 97605819], [97614622, 97614756], [97620562, 97620698], [97621612, 97621693]] [[97605734, 97605819], [97614622, 97614756], [97620562, 97620698], [97621612, 97621693]]
NM_002998 [[97505881, 97506559], [97605707, 97605819], [97614622, 97614756], [97620562, 97620698], [97621612, 97624037]] [[97506499, 97506559], [97605707, 97605819], [97614622, 97614756], [97620562, 97620698], [97621612, 97621776]]
Promoter
Chrom Start End Description
chr8 97505870 97505887 CAGE_peak_2_at_SDC2_5end
chr8 97506007 97506016 CAGE_peak_3_at_SDC2_5end
chr8 97506033 97506048 CAGE_peak_1_at_SDC2_5end
chr8 97597117 97597144 CAGE_peak_5_at_SDC2_5end
chr8 97597148 97597166 CAGE_peak_4_at_SDC2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I096482 96482013 96482142 0.2 [{'connected_gene': 'SDC2', 'score': 0.39}, {'connected_gene': 'RNU6-1172P', 'score': 0.23}, {'connected_gene': 'GC08M096432', 'score': 0.23}]
chr8 GH08I096861 96861200 96862200 1.08 [{'connected_gene': 'SDC2', 'score': 5.14}, {'connected_gene': 'CPQ', 'score': 1.79}, {'connected_gene': 'GC08P096912', 'score': 0.23}, {'connected_gene': 'GC08P096734', 'score': 0.13}]
chr8 GH08I096904 96904713 96907800 1.41 [{'connected_gene': 'SDC2', 'score': 4.96}, {'connected_gene': 'CPQ', 'score': 1.67}, {'connected_gene': 'GC08P096912', 'score': 0.44}, {'connected_gene': 'GC08P096734', 'score': 0.09}]
chr8 GH08I096851 96851415 96855600 1.21 [{'connected_gene': 'SDC2', 'score': 5.14}, {'connected_gene': 'CPQ', 'score': 1.53}, {'connected_gene': 'GC08P096912', 'score': 0.22}, {'connected_gene': 'GC08P096734', 'score': 0.13}]
chr8 GH08I096908 96908201 96910543 1.06 [{'connected_gene': 'SDC2', 'score': 5.03}, {'connected_gene': 'CPQ', 'score': 3.47}, {'connected_gene': 'GC08P096912', 'score': 0.77}, {'connected_gene': 'GC08P096734', 'score': 0.09}]
chr8 GH08I096492 96492897 96497715 2.19 [{'connected_gene': 'SDC2', 'score': 550.77}, {'connected_gene': 'CPQ', 'score': 9.95}]
chr8 GH08I096507 96507014 96508009 0.31 [{'connected_gene': 'SDC2', 'score': 0.39}, {'connected_gene': 'CPQ', 'score': 0.12}]
chr8 GH08I096518 96518800 96519222 0.84 [{'connected_gene': 'SDC2', 'score': 0.31}, {'connected_gene': 'CPQ', 'score': 0.13}]
chr8 GH08I096857 96857001 96858200 0.4 [{'connected_gene': 'SDC2', 'score': 4.74}, {'connected_gene': 'GC08P096912', 'score': 0.23}, {'connected_gene': 'GC08P096734', 'score': 0.13}, {'connected_gene': 'CPQ', 'score': 0.08}]
chr8 GH08I096510 96510928 96512351 0.92 [{'connected_gene': 'SDC2', 'score': 0.37}, {'connected_gene': 'CPQ', 'score': 0.12}]
chr8 GH08I096531 96531153 96533187 0.63 [{'connected_gene': 'SDC2', 'score': 0.28}, {'connected_gene': 'CPQ', 'score': 0.14}]
chr8 GH08I096559 96559526 96559674 0.22 [{'connected_gene': 'SDC2', 'score': 0.2}, {'connected_gene': 'CPQ', 'score': 0.17}]
chr8 GH08I096514 96514991 96516247 0.58 [{'connected_gene': 'SDC2', 'score': 0.34}, {'connected_gene': 'CPQ', 'score': 0.13}]
chr8 GH08I096456 96456068 96456800 0.89 [{'connected_gene': 'RNU6-1172P', 'score': 0.31}, {'connected_gene': 'GC08M096432', 'score': 0.31}, {'connected_gene': 'SDC2', 'score': 0.28}, {'connected_gene': 'LOC105375653', 'score': 0.28}]
chr8 GH08I096454 96454601 96455000 0.43 [{'connected_gene': 'RNU6-1172P', 'score': 0.34}, {'connected_gene': 'GC08M096432', 'score': 0.34}, {'connected_gene': 'SDC2', 'score': 0.28}, {'connected_gene': 'LOC105375653', 'score': 0.28}]
chr8 GH08I096443 96443775 96445613 0.85 [{'connected_gene': 'RNU6-1172P', 'score': 0.39}, {'connected_gene': 'GC08M096432', 'score': 0.39}, {'connected_gene': 'LOC105375653', 'score': 0.34}, {'connected_gene': 'SDC2', 'score': 0.25}]
chr8 GH08I096448 96448606 96449286 0.68 [{'connected_gene': 'RNU6-1172P', 'score': 0.37}, {'connected_gene': 'GC08M096432', 'score': 0.37}, {'connected_gene': 'LOC105375653', 'score': 0.31}, {'connected_gene': 'SDC2', 'score': 0.26}]
chr8 GH08I096446 96446214 96447314 0.38 [{'connected_gene': 'RNU6-1172P', 'score': 0.37}, {'connected_gene': 'GC08M096432', 'score': 0.37}, {'connected_gene': 'LOC105375653', 'score': 0.31}, {'connected_gene': 'SDC2', 'score': 0.25}]
chr8 GH08I096583 96583402 96586230 0.69 [{'connected_gene': 'CPQ', 'score': 0.21}, {'connected_gene': 'SDC2', 'score': 0.16}]
chr8 GH08I096589 96589462 96594545 1.37 [{'connected_gene': 'CPQ', 'score': 10.85}, {'connected_gene': 'SDC2', 'score': 0.15}]
chr8 GH08I096619 96619679 96621401 1.22 [{'connected_gene': 'CPQ', 'score': 0.34}, {'connected_gene': 'SDC2', 'score': 0.13}]
chr8 GH08I096577 96577993 96580936 0.77 [{'connected_gene': 'CPQ', 'score': 0.2}, {'connected_gene': 'SDC2', 'score': 0.17}]
chr8 GH08I096554 96554813 96554962 0.38 [{'connected_gene': 'CPQ', 'score': 10.98}, {'connected_gene': 'SDC2', 'score': 0.21}]
chr8 GH08I096618 96618401 96618600 0.49 [{'connected_gene': 'CPQ', 'score': 0.31}, {'connected_gene': 'SDC2', 'score': 0.13}]
chr8 GH08I096570 96570734 96571999 0.7 [{'connected_gene': 'CPQ', 'score': 0.19}, {'connected_gene': 'SDC2', 'score': 0.18}]
chr8 GH08I096644 96643516 96643626 0.31 [{'connected_gene': 'CPQ', 'score': 550.77}, {'connected_gene': 'SDC2', 'score': 0.1}]
chr8 GH08I096504 96504310 96504910 0.46 [{'connected_gene': 'CPQ', 'score': 9.95}, {'connected_gene': 'SDC2', 'score': 0.39}]
chr8 GH08I096582 96582601 96582800 0.2 [{'connected_gene': 'CPQ', 'score': 0.21}, {'connected_gene': 'SDC2', 'score': 0.17}]
chr8 GH08I096519 96519650 96525715 1.25 [{'connected_gene': 'LOC102724804', 'score': 9.97}, {'connected_gene': 'SDC2', 'score': 0.31}, {'connected_gene': 'CPQ', 'score': 0.13}]
chr8 GH08I096525 96525913 96526062 0.63 [{'connected_gene': 'LOC102724804', 'score': 9.97}, {'connected_gene': 'SDC2', 'score': 5.22}, {'connected_gene': 'CPQ', 'score': 0.13}]