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
ENST00000524230 [[126325894, 126326816], [126327341, 126327476], [126329879, 126329975], [126334197, 126334305], [126340584, 126340741], [126341306, 126341383], [126348221, 126348314], [126349554, 126349780], [126350606, 126350722], [126352751, 126352894], [126360874, 126360994], [126362823, 126362896], [126363139, 126363244], [126364953, 126365063], [126366078, 126366139], [126373590, 126373998]] [[126326747, 126326816], [126327341, 126327476], [126329879, 126329975], [126334197, 126334305], [126340584, 126340741], [126341306, 126341383], [126348221, 126348314], [126349554, 126349780], [126350606, 126350722], [126352751, 126352894], [126360874, 126360994], [126362823, 126362896], [126363139, 126363244], [126364953, 126365063], [126366078, 126366139], [126373590, 126373998]]
ENST00000523403 [[126326353, 126326816], [126327341, 126327476], [126329879, 126329975], [126340584, 126340741], [126341306, 126341383], [126348221, 126348314], [126349554, 126349780], [126350606, 126350722], [126352751, 126352894], [126360874, 126360994], [126362823, 126362896], [126363139, 126363244], [126364953, 126365063], [126366078, 126366139], [126373590, 126373944]] [[126326747, 126326816], [126327341, 126327476], [126329879, 126329975], [126340584, 126340741], [126341306, 126341383], [126348221, 126348314], [126349554, 126349780], [126350606, 126350722], [126352751, 126352894], [126360874, 126360994], [126362823, 126362896], [126363139, 126363244], [126364953, 126365063], [126366078, 126366139], [126373590, 126373944]]
ENST00000519162 [[126290621, 126290888], [126290998, 126291485], [126326493, 126326816], [126327341, 126327398]] [[126326747, 126326816], [126327341, 126327398]]
ENST00000518740 [[126326331, 126326816], [126327341, 126327476], [126327983, 126328088]] [[126326747, 126326816], [126327341, 126327476], [126327983, 126328031]]
NM_052883 [[126325894, 126326816], [126327341, 126327476], [126329879, 126329975], [126334197, 126334305], [126340584, 126340741], [126341306, 126341383], [126348221, 126348314], [126349554, 126349780], [126350606, 126350722], [126352751, 126352894], [126360874, 126360994], [126362823, 126362896], [126363139, 126363244], [126364953, 126365063], [126366078, 126366139], [126373590, 126373967]] [[126326747, 126326816], [126327341, 126327476], [126329879, 126329975], [126334197, 126334305], [126340584, 126340741], [126341306, 126341383], [126348221, 126348314], [126349554, 126349780], [126350606, 126350722], [126352751, 126352894], [126360874, 126360994], [126362823, 126362896], [126363139, 126363244], [126364953, 126365063], [126366078, 126366139], [126373590, 126373833]]
NM_001173513 [[126325894, 126326816], [126327341, 126327476], [126329879, 126329975], [126340584, 126340741], [126341306, 126341383], [126348221, 126348314], [126349554, 126349780], [126350606, 126350722], [126352751, 126352894], [126360874, 126360994], [126362823, 126362896], [126363139, 126363244], [126364953, 126365063], [126366078, 126366139], [126373590, 126373967]] [[126326747, 126326816], [126327341, 126327476], [126329879, 126329975], [126340584, 126340741], [126341306, 126341383], [126348221, 126348314], [126349554, 126349780], [126350606, 126350722], [126352751, 126352894], [126360874, 126360994], [126362823, 126362896], [126363139, 126363244], [126364953, 126365063], [126366078, 126366139], [126373590, 126373833]]
Promoter
Chrom Start End Description
chr3 126373929 126373992 CAGE_peak_1_at_TXNRD3NB_5end,CAGE_peak_1_at_TXNRD3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I126679 126679001 126679773 0.99 [{'connected_gene': 'CHCHD6', 'score': 11.96}, {'connected_gene': 'TXNRD3', 'score': 11.57}, {'connected_gene': 'LOC645852', 'score': 0.44}]
chr3 GH03I126608 126608547 126608606 0.5 [{'connected_gene': 'TXNRD3NB', 'score': 550.77}, {'connected_gene': 'TXNRD3', 'score': 550.25}, {'connected_gene': 'LOC100419878', 'score': 0.37}]
chr3 GH03I126606 126606798 126607810 0.86 [{'connected_gene': 'TXNRD3NB', 'score': 550.77}, {'connected_gene': 'PIR61824', 'score': 0.44}, {'connected_gene': 'TXNRD3', 'score': 0.25}]
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 GH03I127042 127042805 127044392 0.52 [{'connected_gene': 'PLXNA1', 'score': 6.27}, {'connected_gene': 'TXNRD3', 'score': 5.42}, {'connected_gene': 'GC03M127051', 'score': 0.44}, {'connected_gene': 'PIR55562', 'score': 0.44}, {'connected_gene': 'PIR34743', 'score': 0.44}]
chr3 GH03I126620 126620904 126621571 0.31 [{'connected_gene': 'NUP210P1', 'score': 17.11}, {'connected_gene': 'TXNRD3', 'score': 11.55}, {'connected_gene': 'LOC100419878', 'score': 0.77}, {'connected_gene': 'TXNRD3NB', 'score': 0.39}]
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 GH03I126913 126913441 126914156 0.74 [{'connected_gene': 'TXNRD3', 'score': 4.27}, {'connected_gene': 'PIR53209', 'score': 0.44}, {'connected_gene': 'GC03M126808', 'score': 0.15}, {'connected_gene': 'GC03P126709', 'score': 0.08}, {'connected_gene': 'CHCHD6', 'score': 0.08}]
chr3 GH03I127135 127135386 127135750 0.76 [{'connected_gene': 'TXNRD3', 'score': 1.23}, {'connected_gene': 'C3orf56', 'score': 0.22}, {'connected_gene': 'GC03M127051', 'score': 0.17}, {'connected_gene': 'PIR34743', 'score': 0.17}, {'connected_gene': 'GC03M127099', 'score': 0.16}]
chr3 GH03I126582 126582395 126582454 0.61 [{'connected_gene': 'TXNRD3', 'score': 550.19}, {'connected_gene': 'GC03M126565', 'score': 0.37}, {'connected_gene': 'GC03M126599', 'score': 0.37}, {'connected_gene': 'PIR51508', 'score': 0.37}, {'connected_gene': 'RNA5SP138', 'score': 0.37}, {'connected_gene': 'LOC105374090', 'score': 0.34}, {'connected_gene': 'TXNRD3NB', 'score': 0.31}]
chr3 GH03I126654 126654200 126655727 1.81 [{'connected_gene': 'TXNRD3', 'score': 559.63}, {'connected_gene': 'LOC100419878', 'score': 0.29}]
chr3 GH03I126684 126684649 126685782 0.31 [{'connected_gene': 'FAM86JP', 'score': 4.68}, {'connected_gene': 'TXNRD3', 'score': 4.66}, {'connected_gene': 'LOC645852', 'score': 0.39}, {'connected_gene': 'CHCHD6', 'score': 0.37}]