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
ENST00000498127 [[11831915, 11832055], [11849306, 11849369], [11850990, 11851533]] None
ENST00000455809 [[11831915, 11832055], [11849306, 11849369], [11850990, 11851156], [11858665, 11858811], [11871187, 11871338], [11880695, 11880788], [11885502, 11885685], [11887975, 11888246]] [[11831978, 11832055], [11849306, 11849369], [11850990, 11851156], [11858665, 11858811], [11871187, 11871338], [11880695, 11880788], [11885502, 11885685], [11887975, 11888110]]
ENST00000273037 [[11831915, 11832055], [11850990, 11851156], [11858665, 11858811], [11871187, 11871338], [11880695, 11880788], [11885502, 11885685], [11887975, 11888393]] [[11831978, 11832055], [11850990, 11851156], [11858665, 11858811], [11871187, 11871338], [11880695, 11880788], [11885502, 11885685], [11887975, 11888110]]
ENST00000457498 [[11831919, 11832055], [11849306, 11849369], [11849808, 11850057], [11850148, 11851156], [11858665, 11858811], [11871187, 11871338], [11874476, 11874625], [11880695, 11880788], [11885502, 11885685], [11887975, 11888355]] [[11874580, 11874625], [11880695, 11880788], [11885502, 11885685], [11887975, 11888110]]
ENST00000486090 [[11831921, 11832055], [11849306, 11851156], [11852249, 11853033]] None
ENST00000414736 [[11832016, 11832055], [11849306, 11849369], [11850990, 11851156], [11852249, 11852371], [11858553, 11858811]] [[11858644, 11858811]]
ENST00000444133 [[11848767, 11849369], [11850990, 11851156], [11858665, 11858811], [11871187, 11871338], [11880695, 11880788], [11885502, 11885685], [11887975, 11888253]] [[11848884, 11849369], [11850990, 11851156], [11858665, 11858811], [11871187, 11871338], [11880695, 11880788], [11885502, 11885685], [11887975, 11888110]]
ENST00000460246 [[11858561, 11858811], [11868191, 11868279], [11871187, 11871384]] None
ENST00000411947 [[11871229, 11871338], [11872195, 11872348], [11874476, 11874625], [11880695, 11880788], [11885502, 11885685], [11887975, 11888366]] [[11874580, 11874625], [11880695, 11880788], [11885502, 11885685], [11887975, 11888110]]
ENST00000417723 [[11874499, 11874625], [11880695, 11880788], [11885502, 11885685], [11886364, 11886570], [11887975, 11888359]] [[11886381, 11886570], [11887975, 11888110]]
ENST00000494388 [[11885012, 11885685], [11887975, 11888338]] None
NR_135609 [[11831915, 11832055], [11849306, 11849369], [11849808, 11850057], [11850990, 11851156], [11858665, 11858811], [11871187, 11871338], [11872195, 11872348], [11874476, 11874625], [11880695, 11880788], [11885502, 11885685], [11886364, 11886570], [11887975, 11888393]] None
NR_135610 [[11831915, 11832055], [11849306, 11849369], [11850990, 11851156], [11852249, 11852371], [11858665, 11858811], [11871187, 11871338], [11874476, 11874625], [11880695, 11880788], [11885502, 11885685], [11886364, 11886570], [11887975, 11888393]] None
NM_001321295 [[11831915, 11832055], [11849306, 11849369], [11850990, 11851156], [11858665, 11858811], [11871187, 11871338], [11874476, 11874625], [11880695, 11880788], [11885502, 11885685], [11886364, 11886570], [11887975, 11888393]] [[11831978, 11832055], [11849306, 11849369], [11850990, 11851156], [11858665, 11858811], [11871187, 11871251]]
NM_001321294 [[11831915, 11832055], [11849306, 11849369], [11850990, 11851156], [11858665, 11858811], [11871187, 11871338], [11880695, 11880788], [11885502, 11885685], [11886364, 11886570], [11887975, 11888393]] [[11831978, 11832055], [11849306, 11849369], [11850990, 11851156], [11858665, 11858811], [11871187, 11871338], [11880695, 11880788], [11885502, 11885685], [11886364, 11886376]]
NR_104314 [[11831915, 11832055], [11849306, 11849369], [11849808, 11850057], [11850148, 11851156], [11858665, 11858811], [11871187, 11871338], [11874476, 11874625], [11880695, 11880788], [11885502, 11885685], [11887975, 11888393]] None
NR_135611 [[11831915, 11832055], [11849306, 11849369], [11849808, 11850057], [11850990, 11851156], [11858665, 11858811], [11871187, 11871338], [11880695, 11880788], [11885502, 11885685], [11887975, 11888393]] None
NM_001284401 [[11831915, 11832055], [11849306, 11849369], [11850990, 11851156], [11858665, 11858811], [11871187, 11871338], [11880695, 11880788], [11885502, 11885685], [11887975, 11888393]] [[11831978, 11832055], [11849306, 11849369], [11850990, 11851156], [11858665, 11858811], [11871187, 11871338], [11880695, 11880788], [11885502, 11885685], [11887975, 11888110]]
NM_138807 [[11831915, 11832055], [11850990, 11851156], [11858665, 11858811], [11871187, 11871338], [11880695, 11880788], [11885502, 11885685], [11887975, 11888393]] [[11831978, 11832055], [11850990, 11851156], [11858665, 11858811], [11871187, 11871338], [11880695, 11880788], [11885502, 11885685], [11887975, 11888110]]
Promoter
Chrom Start End Description
chr3 11888282 11888374 CAGE_peak_1_at_TAMM41_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I011716 11716309 11722003 2.2 [{'connected_gene': 'VGLL4', 'score': 560.19}, {'connected_gene': 'TAMM41', 'score': 11.11}, {'connected_gene': 'TSEN2', 'score': 10.46}, {'connected_gene': 'ENSG00000272483', 'score': 0.14}]
chr3 GH03I011774 11774387 11774556 0.68 [{'connected_gene': 'VGLL4', 'score': 0.77}, {'connected_gene': 'TAMM41', 'score': 0.19}]
chr3 GH03I011768 11768576 11772838 1.44 [{'connected_gene': 'VGLL4', 'score': 550.77}, {'connected_gene': 'TAMM41', 'score': 14.8}, {'connected_gene': 'ENSG00000272483', 'score': 0.1}]
chr3 GH03I012482 12482460 12485811 2.04 [{'connected_gene': 'TSEN2', 'score': 575.67}, {'connected_gene': 'VGLL4', 'score': 22.77}, {'connected_gene': 'TAMM41', 'score': 20.69}, {'connected_gene': 'RPL32', 'score': 9.77}, {'connected_gene': 'TIMP4', 'score': 9.48}, {'connected_gene': 'SYN2', 'score': 9.47}, {'connected_gene': 'MKRN2', 'score': 9.35}, {'connected_gene': 'NUP210', 'score': 4.54}, {'connected_gene': 'GC03P012458', 'score': 0.31}, {'connected_gene': 'GC03P012338', 'score': 0.11}]
chr3 GH03I011691 11691001 11691913 0.92 [{'connected_gene': 'TSEN2', 'score': 16.0}, {'connected_gene': 'VGLL4', 'score': 12.02}, {'connected_gene': 'TAMM41', 'score': 10.13}, {'connected_gene': 'ENSG00000272483', 'score': 0.18}]
chr3 GH03I012381 12381946 12386626 0.54 [{'connected_gene': 'TSEN2', 'score': 29.78}, {'connected_gene': 'PPARG', 'score': 18.72}, {'connected_gene': 'TAMM41', 'score': 14.86}, {'connected_gene': 'ENSG00000272263', 'score': 11.35}, {'connected_gene': 'VGLL4', 'score': 10.44}, {'connected_gene': 'TIMP4', 'score': 10.09}, {'connected_gene': 'SYN2', 'score': 10.06}, {'connected_gene': 'GC03P012338', 'score': 0.25}, {'connected_gene': 'GC03P012458', 'score': 0.19}]
chr3 GH03I012191 12191943 12195814 1.69 [{'connected_gene': 'SYN2', 'score': 28.37}, {'connected_gene': 'PPARG', 'score': 22.62}, {'connected_gene': 'TAMM41', 'score': 14.79}, {'connected_gene': 'TSEN2', 'score': 12.85}, {'connected_gene': 'TIMP4', 'score': 11.84}, {'connected_gene': 'VGLL4', 'score': 11.59}, {'connected_gene': 'ENSG00000271716', 'score': 9.87}, {'connected_gene': 'RAF1', 'score': 1.88}, {'connected_gene': 'GC03P012190', 'score': 0.77}, {'connected_gene': 'PIR34150', 'score': 0.77}, {'connected_gene': 'PIR33937', 'score': 0.28}]
chr3 GH03I012451 12451173 12457022 0.87 [{'connected_gene': 'SYN2', 'score': 15.37}, {'connected_gene': 'TAMM41', 'score': 13.71}, {'connected_gene': 'ENSG00000271716', 'score': 11.34}, {'connected_gene': 'PPARG', 'score': 10.63}, {'connected_gene': 'TIMP4', 'score': 10.1}, {'connected_gene': 'RAF1', 'score': 5.27}, {'connected_gene': 'GC03P012458', 'score': 0.77}, {'connected_gene': 'GC03P012338', 'score': 0.13}]
chr3 GH03I010992 10992007 10992801 1.96 [{'connected_gene': 'SLC6A1', 'score': 572.36}, {'connected_gene': 'TAMM41', 'score': 9.7}, {'connected_gene': 'LOC105376950', 'score': 0.21}]
chr3 GH03I012661 12661697 12665201 2.3 [{'connected_gene': 'RAF1', 'score': 555.49}, {'connected_gene': 'TAMM41', 'score': 19.06}, {'connected_gene': 'MKRN2OS', 'score': 17.49}, {'connected_gene': 'MKRN2', 'score': 15.36}, {'connected_gene': 'TSEN2', 'score': 4.91}, {'connected_gene': 'GC03M012623', 'score': 0.28}]
chr3 GH03I012757 12757487 12761316 1.71 [{'connected_gene': 'TMEM40', 'score': 559.86}, {'connected_gene': 'CAND2', 'score': 21.25}, {'connected_gene': 'TAMM41', 'score': 12.79}, {'connected_gene': 'MKRN2', 'score': 12.32}, {'connected_gene': 'VGLL4', 'score': 10.43}, {'connected_gene': 'CRIP1P1', 'score': 0.17}]
chr3 GH03I012646 12646402 12649799 1.66 [{'connected_gene': 'MKRN2', 'score': 43.83}, {'connected_gene': 'RAF1', 'score': 30.08}, {'connected_gene': 'MKRN2OS', 'score': 17.37}, {'connected_gene': 'CRIP1P1', 'score': 12.44}, {'connected_gene': 'TAMM41', 'score': 9.7}, {'connected_gene': 'TSEN2', 'score': 6.84}, {'connected_gene': 'GC03M012623', 'score': 0.34}]
chr3 GH03I012555 12555806 12559150 2.11 [{'connected_gene': 'MKRN2', 'score': 576.93}, {'connected_gene': 'TAMM41', 'score': 26.88}, {'connected_gene': 'TSEN2', 'score': 23.72}, {'connected_gene': 'ENSG00000272263', 'score': 11.18}, {'connected_gene': 'ENSG00000271716', 'score': 10.5}, {'connected_gene': 'MKRN2OS', 'score': 6.48}, {'connected_gene': 'GC03P012338', 'score': 0.08}]
chr3 GH03I012637 12637847 12639142 0.38 [{'connected_gene': 'MKRN2', 'score': 13.58}, {'connected_gene': 'TAMM41', 'score': 10.08}, {'connected_gene': 'GC03M012623', 'score': 0.39}, {'connected_gene': 'RAF1', 'score': 0.31}]
chr3 GH03I011845 11845252 11848093 2.1 [{'connected_gene': 'TAMM41', 'score': 595.55}, {'connected_gene': 'VGLL4', 'score': 39.59}, {'connected_gene': 'ENSG00000271716', 'score': 17.42}, {'connected_gene': 'TSEN2', 'score': 10.46}, {'connected_gene': 'RPL32', 'score': 9.74}]
chr3 GH03I012706 12706602 12706711 0.88 [{'connected_gene': 'TAMM41', 'score': 12.79}, {'connected_gene': 'VGLL4', 'score': 10.43}, {'connected_gene': 'CRIP1P1', 'score': 0.29}, {'connected_gene': 'TMEM40', 'score': 0.21}]
chr3 GH03I011476 11476730 11479675 1.33 [{'connected_gene': 'TAMM41', 'score': 26.38}, {'connected_gene': 'VGLL4', 'score': 10.47}, {'connected_gene': 'ATG7', 'score': 6.62}, {'connected_gene': 'ENSG00000235240', 'score': 0.39}, {'connected_gene': 'GC03M011422', 'score': 0.25}]
chr3 GH03I011095 11095537 11097507 1.09 [{'connected_gene': 'TAMM41', 'score': 26.28}, {'connected_gene': 'ENSG00000271716', 'score': 12.58}, {'connected_gene': 'VGLL4', 'score': 12.51}, {'connected_gene': 'LOC101927467', 'score': 0.29}, {'connected_gene': 'HRH1', 'score': 0.26}]
chr3 GH03I011827 11827027 11827176 0.38 [{'connected_gene': 'TAMM41', 'score': 0.37}, {'connected_gene': 'VGLL4', 'score': 0.22}]
chr3 GH03I011810 11810014 11810577 0.31 [{'connected_gene': 'TAMM41', 'score': 62.36}, {'connected_gene': 'VGLL4', 'score': 11.07}]
chr3 GH03I011791 11791887 11792036 0.31 [{'connected_gene': 'TAMM41', 'score': 24.72}, {'connected_gene': 'VGLL4', 'score': 0.34}]
chr3 GH03I011784 11784517 11785829 0.38 [{'connected_gene': 'TAMM41', 'score': 10.97}, {'connected_gene': 'VGLL4', 'score': 0.39}]
chr3 GH03I011820 11820407 11821671 0.66 [{'connected_gene': 'TAMM41', 'score': 0.31}, {'connected_gene': 'VGLL4', 'score': 0.25}]
chr3 GH03I012362 12362477 12365051 0.8 [{'connected_gene': 'TAMM41', 'score': 96.64}, {'connected_gene': 'TSEN2', 'score': 70.06}, {'connected_gene': 'ENSG00000271716', 'score': 46.73}, {'connected_gene': 'VGLL4', 'score': 44.02}, {'connected_gene': 'ENSG00000272263', 'score': 20.02}, {'connected_gene': 'RPL32', 'score': 18.93}, {'connected_gene': 'MKRN2', 'score': 15.29}, {'connected_gene': 'TIMP4', 'score': 10.42}, {'connected_gene': 'SYN2', 'score': 10.39}, {'connected_gene': 'PPARG', 'score': 10.35}, {'connected_gene': 'GC03P012338', 'score': 0.34}, {'connected_gene': 'GC03P012458', 'score': 0.16}]
chr3 GH03I011817 11817627 11818694 0.43 [{'connected_gene': 'TAMM41', 'score': 61.86}, {'connected_gene': 'TSEN2', 'score': 13.25}, {'connected_gene': 'VGLL4', 'score': 0.25}]
chr3 GH03I012357 12357117 12357509 0.68 [{'connected_gene': 'TAMM41', 'score': 13.72}, {'connected_gene': 'ENSG00000271716', 'score': 11.34}, {'connected_gene': 'TIMP4', 'score': 10.08}, {'connected_gene': 'SYN2', 'score': 10.05}, {'connected_gene': 'PPARG', 'score': 3.37}, {'connected_gene': 'RAF1', 'score': 1.62}, {'connected_gene': 'GC03P012338', 'score': 0.37}, {'connected_gene': 'GC03P012458', 'score': 0.15}]
chr3 GH03I012809 12809577 12811441 1.13 [{'connected_gene': 'TAMM41', 'score': 16.17}, {'connected_gene': 'SNORA7A', 'score': 11.68}, {'connected_gene': 'RPL32', 'score': 11.66}, {'connected_gene': 'ENSG00000250939', 'score': 11.63}, {'connected_gene': 'TSEN2', 'score': 10.94}, {'connected_gene': 'CAND2', 'score': 5.71}, {'connected_gene': 'ENSG00000272263', 'score': 0.34}]
chr3 GH03I012344 12344970 12345533 1.27 [{'connected_gene': 'TAMM41', 'score': 23.16}, {'connected_gene': 'PPARG', 'score': 18.72}, {'connected_gene': 'TSEN2', 'score': 17.81}, {'connected_gene': 'ENSG00000271716', 'score': 11.51}, {'connected_gene': 'VGLL4', 'score': 10.44}, {'connected_gene': 'TIMP4', 'score': 9.94}, {'connected_gene': 'SYN2', 'score': 9.91}, {'connected_gene': 'GC03P012338', 'score': 0.44}, {'connected_gene': 'GC03P012458', 'score': 0.14}]
chr3 GH03I012756 12756142 12757298 0.74 [{'connected_gene': 'TAMM41', 'score': 12.82}, {'connected_gene': 'MKRN2', 'score': 12.6}, {'connected_gene': 'VGLL4', 'score': 12.12}, {'connected_gene': 'TMEM40', 'score': 9.71}, {'connected_gene': 'CRIP1P1', 'score': 0.18}]
chr3 GH03I011117 11117712 11118893 0.67 [{'connected_gene': 'TAMM41', 'score': 62.77}, {'connected_gene': 'ENSG00000271716', 'score': 38.61}, {'connected_gene': 'GHRLOS', 'score': 21.85}, {'connected_gene': 'VGLL4', 'score': 10.71}, {'connected_gene': 'LINC00852', 'score': 10.6}, {'connected_gene': 'SEC13', 'score': 9.69}, {'connected_gene': 'HRH1', 'score': 0.37}, {'connected_gene': 'LOC101927467', 'score': 0.22}]
chr3 GH03I011128 11128505 11130070 0.2 [{'connected_gene': 'SLC6A1-AS1', 'score': 10.52}, {'connected_gene': 'SLC6A1', 'score': 10.5}, {'connected_gene': 'TAMM41', 'score': 4.11}, {'connected_gene': 'HRH1', 'score': 0.44}, {'connected_gene': 'LOC101927467', 'score': 0.2}]
chr3 GH03I012544 12544831 12546151 1.45 [{'connected_gene': 'MKRN2OS', 'score': 550.37}, {'connected_gene': 'MKRN2', 'score': 30.48}, {'connected_gene': 'TSEN2', 'score': 13.66}, {'connected_gene': 'ENSG00000271716', 'score': 11.51}, {'connected_gene': 'TAMM41', 'score': 10.08}, {'connected_gene': 'RNU6-377P', 'score': 0.29}, {'connected_gene': 'GC03P012338', 'score': 0.08}]
chr3 GH03I012458 12458005 12459790 0.99 [{'connected_gene': 'GC03P012458', 'score': 550.77}, {'connected_gene': 'TSEN2', 'score': 22.98}, {'connected_gene': 'TAMM41', 'score': 16.17}, {'connected_gene': 'VGLL4', 'score': 12.51}, {'connected_gene': 'TIMP4', 'score': 10.71}, {'connected_gene': 'SYN2', 'score': 10.7}, {'connected_gene': 'PPARG', 'score': 10.62}, {'connected_gene': 'MKRN2', 'score': 7.06}, {'connected_gene': 'CAND2', 'score': 4.45}, {'connected_gene': 'GC03P012338', 'score': 0.13}]
chr3 GH03I012838 12838979 12842624 2.31 [{'connected_gene': 'GC03M012839', 'score': 550.77}, {'connected_gene': 'GC03M012844', 'score': 550.77}, {'connected_gene': 'RPL32', 'score': 550.77}, {'connected_gene': 'GC03M012841', 'score': 550.77}, {'connected_gene': 'SNORA7A', 'score': 550.77}, {'connected_gene': 'TAMM41', 'score': 40.78}, {'connected_gene': 'ENSG00000272263', 'score': 15.37}, {'connected_gene': 'TSEN2', 'score': 12.78}, {'connected_gene': 'LINC02022', 'score': 7.95}, {'connected_gene': 'CAND2', 'score': 0.26}]
chr3 GH03I012832 12832922 12834214 0.59 [{'connected_gene': 'ENSG00000272263', 'score': 550.77}, {'connected_gene': 'CAND2', 'score': 11.97}, {'connected_gene': 'KRT18P17', 'score': 11.95}, {'connected_gene': 'RPL32', 'score': 11.07}, {'connected_gene': 'TAMM41', 'score': 10.22}, {'connected_gene': 'LINC02022', 'score': 8.11}, {'connected_gene': 'TSEN2', 'score': 4.74}, {'connected_gene': 'GC03M012839', 'score': 0.44}]
chr3 GH03I011213 11213227 11214507 0.43 [{'connected_gene': 'PIR59264', 'score': 550.77}, {'connected_gene': 'TAMM41', 'score': 11.01}, {'connected_gene': 'VGLL4', 'score': 9.98}, {'connected_gene': 'CHCHD4P4', 'score': 0.34}, {'connected_gene': 'HRH1', 'score': 0.18}]
chr3 GH03I011211 11211259 11213157 0.97 [{'connected_gene': 'PIR59264', 'score': 550.77}, {'connected_gene': 'TAMM41', 'score': 11.01}, {'connected_gene': 'VGLL4', 'score': 9.98}, {'connected_gene': 'ATG7', 'score': 8.65}, {'connected_gene': 'CHCHD4P4', 'score': 0.34}, {'connected_gene': 'HRH1', 'score': 0.18}]
chr3 GH03I011506 11506965 11510932 1.38 [{'connected_gene': 'ENSG00000271716', 'score': 11.63}, {'connected_gene': 'TAMM41', 'score': 10.11}, {'connected_gene': 'TSEN2', 'score': 9.86}, {'connected_gene': 'ATG7', 'score': 5.91}, {'connected_gene': 'ENSG00000235240', 'score': 0.34}, {'connected_gene': 'ENSG00000270531', 'score': 0.34}]
chr3 GH03I011198 11198961 11202986 1.17 [{'connected_gene': 'ENSG00000271716', 'score': 13.33}, {'connected_gene': 'TAMM41', 'score': 12.83}, {'connected_gene': 'SEC13', 'score': 11.07}, {'connected_gene': 'SLC6A1-AS1', 'score': 10.28}, {'connected_gene': 'SLC6A1', 'score': 10.27}, {'connected_gene': 'GHRLOS', 'score': 9.76}, {'connected_gene': 'ATG7', 'score': 9.63}, {'connected_gene': 'LOC102723663', 'score': 0.44}, {'connected_gene': 'LOC105376951', 'score': 0.25}, {'connected_gene': 'HRH1', 'score': 0.21}]
chr3 GH03I011245 11245374 11247043 0.72 [{'connected_gene': 'ENSG00000271716', 'score': 34.59}, {'connected_gene': 'ATG7', 'score': 25.06}, {'connected_gene': 'TAMM41', 'score': 23.81}, {'connected_gene': 'VGLL4', 'score': 20.8}, {'connected_gene': 'SEC13', 'score': 10.46}, {'connected_gene': 'CHCHD4P4', 'score': 0.39}, {'connected_gene': 'PIR61529', 'score': 0.37}, {'connected_gene': 'HRH1', 'score': 0.14}]

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