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
ENST00000514463 [[126156443, 126157304], [126158474, 126162252]] None
ENST00000389709 [[126156443, 126157304], [126158474, 126158570], [126160607, 126160789], [126178495, 126178580], [126180377, 126181063], [126184997, 126185168], [126189737, 126189868], [126190815, 126190894], [126190995, 126191148], [126193801, 126194762]] [[126157217, 126157304], [126158474, 126158570], [126160607, 126160789], [126178495, 126178580], [126180377, 126181063], [126184997, 126185168], [126189737, 126189868], [126190815, 126190894], [126190995, 126191148], [126193801, 126194708]]
ENST00000515545 [[126156461, 126157304], [126158474, 126158570], [126160607, 126160789], [126180112, 126181063], [126184997, 126185168], [126189737, 126189868], [126190815, 126190894], [126190995, 126191148], [126193801, 126193830]] [[126180371, 126181063], [126184997, 126185168], [126189737, 126189868], [126190815, 126190894], [126190995, 126191148], [126193801, 126193830]]
ENST00000336332 [[126179925, 126181063], [126184997, 126185168], [126189737, 126189868], [126190815, 126190894], [126190995, 126191148], [126193801, 126194708]] [[126180371, 126181063], [126184997, 126185168], [126189737, 126189868], [126190815, 126190894], [126190995, 126191148], [126193801, 126194708]]
NR_104249 [[126156443, 126157304], [126158474, 126158570], [126160607, 126160789], [126180112, 126181063], [126184997, 126185168], [126189737, 126189868], [126190815, 126190894], [126190995, 126191148], [126193801, 126194762]] None
NM_025112 [[126156443, 126157304], [126158474, 126158570], [126160607, 126160789], [126178495, 126178580], [126180377, 126181063], [126184997, 126185168], [126189737, 126189868], [126190815, 126190894], [126190995, 126191148], [126193801, 126194762]] [[126157217, 126157304], [126158474, 126158570], [126160607, 126160789], [126178495, 126178580], [126180377, 126181063], [126184997, 126185168], [126189737, 126189868], [126190815, 126190894], [126190995, 126191148], [126193801, 126194708]]
NM_001040653 [[126177743, 126181063], [126184997, 126185168], [126189737, 126189868], [126190815, 126190894], [126190995, 126191148], [126193801, 126194762]] [[126180371, 126181063], [126184997, 126185168], [126189737, 126189868], [126190815, 126190894], [126190995, 126191148], [126193801, 126194708]]
Promoter
Chrom Start End Description
chr3 126191157 126191171 CAGE_peak_4_at_ZXDC_5end
chr3 126191239 126191272 CAGE_peak_11_at_ZXDC_5end
chr3 126194707 126194798 CAGE_peak_1_at_ZXDC_5end
chr3 126194815 126194848 CAGE_peak_2_at_ZXDC_5end
chr3 126194866 126194887 CAGE_peak_3_at_ZXDC_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I126471 126471860 126477444 2.25 [{'connected_gene': 'ZXDC', 'score': 569.2}, {'connected_gene': 'OR7E29P', 'score': 4.66}, {'connected_gene': 'PIR31332', 'score': 0.39}]
chr3 GH03I126493 126493980 126495149 0.31 [{'connected_gene': 'ZXDC', 'score': 10.52}, {'connected_gene': 'CHST13', 'score': 5.37}, {'connected_gene': 'UROC1', 'score': 0.34}]
chr3 GH03I126547 126547857 126548033 0.54 [{'connected_gene': 'ZXDC', 'score': 1.51}, {'connected_gene': 'C3orf22', 'score': 0.39}, {'connected_gene': 'CHST13', 'score': 0.34}]
chr3 GH03I126481 126481938 126482087 0.64 [{'connected_gene': 'ZXDC', 'score': 0.44}, {'connected_gene': 'UROC1', 'score': 0.28}]
chr3 GH03I126486 126486802 126487972 0.8 [{'connected_gene': 'ZXDC', 'score': 14.68}, {'connected_gene': 'UROC1', 'score': 0.29}]
chr3 GH03I125512 125512137 125512426 0.84 [{'connected_gene': 'ZXDC', 'score': 12.81}, {'connected_gene': 'LOC101927056', 'score': 12.65}, {'connected_gene': 'ZNF148', 'score': 12.15}, {'connected_gene': 'UMPS', 'score': 10.95}, {'connected_gene': 'ENSG00000248787', 'score': 10.14}, {'connected_gene': 'GC03P125517', 'score': 0.77}, {'connected_gene': 'SNX4', 'score': 0.44}, {'connected_gene': 'GC03P125445', 'score': 0.2}]
chr3 GH03I126464 126464217 126467000 1.22 [{'connected_gene': 'ZXDC', 'score': 21.7}, {'connected_gene': 'PIR31332', 'score': 0.77}]
chr3 GH03I126467 126467178 126468957 1.15 [{'connected_gene': 'ZXDC', 'score': 18.38}, {'connected_gene': 'PIR31332', 'score': 0.44}]
chr3 GH03I125645 125645859 125648839 0.84 [{'connected_gene': 'ZNF148', 'score': 61.59}, {'connected_gene': 'ZXDC', 'score': 40.86}, {'connected_gene': 'UMPS', 'score': 37.98}, {'connected_gene': 'OR7E29P', 'score': 22.56}, {'connected_gene': 'ENSG00000242001', 'score': 20.9}, {'connected_gene': 'FAM86JP', 'score': 19.62}, {'connected_gene': 'LOC101927056', 'score': 18.57}, {'connected_gene': 'LOC100419878', 'score': 11.48}, {'connected_gene': 'SLC41A3', 'score': 11.13}, {'connected_gene': 'ENSG00000243072', 'score': 0.29}, {'connected_gene': 'PIR57986', 'score': 0.28}]
chr3 GH03I126907 126907699 126913169 1.71 [{'connected_gene': 'PLXNA1', 'score': 6.77}, {'connected_gene': 'TXNRD3', 'score': 4.74}, {'connected_gene': 'ZXDC', 'score': 1.36}, {'connected_gene': 'PIR53209', 'score': 0.39}, {'connected_gene': 'GC03M126808', 'score': 0.15}, {'connected_gene': 'GC03P126709', 'score': 0.08}, {'connected_gene': 'CHCHD6', 'score': 0.08}]
chr3 GH03I126539 126539443 126543259 1.43 [{'connected_gene': 'CHST13', 'score': 32.75}, {'connected_gene': 'ZXDC', 'score': 2.75}, {'connected_gene': 'C3orf22', 'score': 0.37}]
chr3 GH03I126522 126522840 126531392 2.62 [{'connected_gene': 'CHST13', 'score': 609.65}, {'connected_gene': 'TXNRD3NB', 'score': 11.52}, {'connected_gene': 'TXNRD3', 'score': 11.48}, {'connected_gene': 'NUP210P1', 'score': 10.9}, {'connected_gene': 'OR7E29P', 'score': 5.22}, {'connected_gene': 'C3orf22', 'score': 4.5}, {'connected_gene': 'ZXDC', 'score': 1.83}, {'connected_gene': 'UROC1', 'score': 1.75}]
chr3 GH03I126442 126442198 126442347 0.2 [{'connected_gene': 'LOC105374089', 'score': 0.44}, {'connected_gene': 'GC03M126451', 'score': 0.39}, {'connected_gene': 'ZXDC', 'score': 0.29}]
chr3 GH03I126212 126212451 126214000 1.01 [{'connected_gene': 'LOC105374086', 'score': 550.77}, {'connected_gene': 'ZXDC', 'score': 24.44}, {'connected_gene': 'ZNF148', 'score': 19.79}, {'connected_gene': 'ALDH1L1', 'score': 4.93}, {'connected_gene': 'ALG1L', 'score': 4.48}, {'connected_gene': 'GC03P126153', 'score': 0.21}]
chr3 GH03I125914 125914310 125919032 1.48 [{'connected_gene': 'FAM86JP', 'score': 598.99}, {'connected_gene': 'LOC101927056', 'score': 585.01}, {'connected_gene': 'LOC102723696', 'score': 550.77}, {'connected_gene': 'ZNF148', 'score': 11.1}, {'connected_gene': 'ZXDC', 'score': 10.49}, {'connected_gene': 'ALG1L', 'score': 0.28}]
chr3 GH03I126459 126459738 126460947 0.2 [{'connected_gene': 'PIR31332', 'score': 550.77}, {'connected_gene': 'ZXDC', 'score': 18.01}, {'connected_gene': 'UROC1', 'score': 11.26}, {'connected_gene': 'CHST13', 'score': 11.24}, {'connected_gene': 'GC03M126451', 'score': 0.44}]
chr3 GH03I126461 126461004 126463317 0.2 [{'connected_gene': 'PIR31332', 'score': 550.77}, {'connected_gene': 'ZXDC', 'score': 21.7}, {'connected_gene': 'UROC1', 'score': 11.26}, {'connected_gene': 'CHST13', 'score': 11.24}]
chr3 GH03I126463 126463658 126463807 0.2 [{'connected_gene': 'PIR31332', 'score': 0.77}, {'connected_gene': 'ZXDC', 'score': 0.39}]
chr3 GH03I126971 126971362 126972627 0.91 [{'connected_gene': 'ENSG00000280053', 'score': 550.77}, {'connected_gene': 'PLXNA1', 'score': 14.36}, {'connected_gene': 'CHST13', 'score': 2.61}, {'connected_gene': 'ZXDC', 'score': 1.19}, {'connected_gene': 'PIR43717', 'score': 0.39}, {'connected_gene': 'GC03P126709', 'score': 0.07}]
chr3 GH03I125989 125989801 125991600 1.42 [{'connected_gene': 'PIR42058', 'score': 550.77}, {'connected_gene': 'ALG1L', 'score': 43.66}, {'connected_gene': 'FAM86JP', 'score': 34.15}, {'connected_gene': 'ROPN1B', 'score': 15.45}, {'connected_gene': 'SLC41A3', 'score': 7.84}, {'connected_gene': 'CFAP100', 'score': 2.28}, {'connected_gene': 'ZXDC', 'score': 1.74}, {'connected_gene': 'ENSG00000248607', 'score': 0.2}]
chr3 GH03I126447 126447578 126447727 0.2 [{'connected_gene': 'GC03M126451', 'score': 0.44}, {'connected_gene': 'LOC105374089', 'score': 0.39}, {'connected_gene': 'ZXDC', 'score': 0.31}]