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
ENST00000312233 [[53971909, 53972449], [53974792, 53974960], [53975521, 53975700], [53980297, 53980454], [53986306, 53986439], [53990449, 53990560], [53995463, 53995625], [54059780, 54060663], [54065773, 54065951], [54199576, 54199877]] [[53972291, 53972449], [53974792, 53974960], [53975521, 53975700], [53980297, 53980454], [53986306, 53986439], [53990449, 53990560], [53995463, 53995625], [54059780, 54060575]]
NM_147193 [[53971905, 53972449], [53974792, 53974960], [53975521, 53975700], [53980297, 53980454], [53986306, 53986439], [53990449, 53990560], [53995463, 53995625], [54059780, 54060663], [54065773, 54065951], [54199576, 54199877]] [[53972291, 53972449], [53974792, 53974960], [53975521, 53975700], [53980297, 53980454], [53986306, 53986439], [53990449, 53990560], [53995463, 53995625], [54059780, 54060575]]
Promoter
Chrom Start End Description
chr1 54203698 54203719 CAGE_peak_3_at_GLIS1_5end
chr1 54203726 54203742 CAGE_peak_4_at_GLIS1_5end
chr1 54204818 54204870 CAGE_peak_5_at_GLIS1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I053765 53765278 53767582 0.82 [{'connected_gene': 'GLIS1', 'score': 10.2}, {'connected_gene': 'NDC1', 'score': 9.91}, {'connected_gene': 'RPL37P7', 'score': 9.9}, {'connected_gene': 'LRRC42', 'score': 9.58}, {'connected_gene': 'HSPB11', 'score': 9.58}, {'connected_gene': 'YIPF1', 'score': 4.92}, {'connected_gene': 'ENSG00000201003', 'score': 0.77}, {'connected_gene': 'GC01M053772', 'score': 0.77}]
chr1 GH01I053807 53807742 53808471 0.63 [{'connected_gene': 'GLIS1', 'score': 10.5}, {'connected_gene': 'NDC1', 'score': 0.29}, {'connected_gene': 'ENSG00000201003', 'score': 0.28}, {'connected_gene': 'GC01M053772', 'score': 0.28}]
chr1 GH01I053618 53618904 53618963 0.61 [{'connected_gene': 'GLIS1', 'score': 550.13}, {'connected_gene': 'RNU7-95P', 'score': 11.63}, {'connected_gene': 'GC01M053591', 'score': 0.31}, {'connected_gene': 'PIR52518', 'score': 0.31}, {'connected_gene': 'PIR51865', 'score': 0.23}]
chr1 GH01I053705 53705017 53706009 0.38 [{'connected_gene': 'GLIS1', 'score': 7.56}, {'connected_gene': 'RNU7-95P', 'score': 0.37}]
chr1 GH01I053681 53681581 53682637 0.88 [{'connected_gene': 'GLIS1', 'score': 5.24}, {'connected_gene': 'PIR51865', 'score': 0.44}, {'connected_gene': 'RNU7-95P', 'score': 0.44}]
chr1 GH01I053697 53697668 53698536 0.49 [{'connected_gene': 'GLIS1', 'score': 8.48}, {'connected_gene': 'RNU7-95P', 'score': 0.44}]
chr1 GH01I053730 53730896 53741752 2.35 [{'connected_gene': 'GLIS1', 'score': 563.35}, {'connected_gene': 'RNU7-95P', 'score': 10.8}, {'connected_gene': 'ENSG00000201003', 'score': 10.49}]
chr1 GH01I053655 53655890 53657528 0.43 [{'connected_gene': 'GLIS1', 'score': 4.86}, {'connected_gene': 'PIR51865', 'score': 0.37}, {'connected_gene': 'GC01M053591', 'score': 0.2}, {'connected_gene': 'PIR52518', 'score': 0.2}]
chr1 GH01I053526 53526090 53527545 0.74 [{'connected_gene': 'RNU7-95P', 'score': 10.93}, {'connected_gene': 'ENSG00000235563', 'score': 4.3}, {'connected_gene': 'PIR60882', 'score': 0.25}, {'connected_gene': 'DMRTB1', 'score': 0.2}, {'connected_gene': 'GLIS1', 'score': 0.08}]
chr1 GH01I053511 53511888 53512780 0.97 [{'connected_gene': 'RNU7-95P', 'score': 10.72}, {'connected_gene': 'DMRTB1', 'score': 0.23}, {'connected_gene': 'PIR60882', 'score': 0.21}, {'connected_gene': 'GLIS1', 'score': 0.07}]
chr1 GH01I053617 53617004 53618100 0.46 [{'connected_gene': 'RNU7-95P', 'score': 11.62}, {'connected_gene': 'GLIS1', 'score': 10.25}, {'connected_gene': 'GC01M053591', 'score': 0.31}, {'connected_gene': 'PIR52518', 'score': 0.31}, {'connected_gene': 'PIR51865', 'score': 0.22}]
chr1 GH01I053585 53583083 53584377 0.31 [{'connected_gene': 'RNU7-95P', 'score': 10.53}, {'connected_gene': 'GLIS1', 'score': 7.42}, {'connected_gene': 'GC01M053591', 'score': 0.44}, {'connected_gene': 'GC01M053578', 'score': 0.44}, {'connected_gene': 'PIR62070', 'score': 0.44}, {'connected_gene': 'PIR52518', 'score': 0.44}]
chr1 GH01I053594 53594148 53594337 0.56 [{'connected_gene': 'RNU7-95P', 'score': 10.84}, {'connected_gene': 'GC01M053591', 'score': 0.77}, {'connected_gene': 'PIR52518', 'score': 0.77}, {'connected_gene': 'PIR51865', 'score': 0.18}, {'connected_gene': 'GLIS1', 'score': 0.11}]
chr1 GH01I053584 53584408 53585955 0.46 [{'connected_gene': 'RNU7-95P', 'score': 10.53}, {'connected_gene': 'ENSG00000235563', 'score': 4.78}, {'connected_gene': 'GC01M053591', 'score': 0.44}, {'connected_gene': 'GC01M053578', 'score': 0.44}, {'connected_gene': 'PIR62070', 'score': 0.44}, {'connected_gene': 'PIR52518', 'score': 0.44}, {'connected_gene': 'GLIS1', 'score': 0.1}]
chr1 GH01I053685 53685478 53686477 0.62 [{'connected_gene': 'RNU7-95P', 'score': 0.77}, {'connected_gene': 'PIR51865', 'score': 0.39}, {'connected_gene': 'GLIS1', 'score': 0.23}]
chr1 GH01I053582 53582248 53582397 0.57 [{'connected_gene': 'RNU7-95P', 'score': 10.53}, {'connected_gene': 'GC01M053578', 'score': 0.77}, {'connected_gene': 'PIR62070', 'score': 0.77}, {'connected_gene': 'GC01M053591', 'score': 0.44}, {'connected_gene': 'PIR52518', 'score': 0.44}, {'connected_gene': 'GLIS1', 'score': 0.1}]
chr1 GH01I053583 53582769 53582798 0.43 [{'connected_gene': 'RNU7-95P', 'score': 10.53}, {'connected_gene': 'GC01M053591', 'score': 0.44}, {'connected_gene': 'GC01M053578', 'score': 0.44}, {'connected_gene': 'PIR62070', 'score': 0.44}, {'connected_gene': 'PIR52518', 'score': 0.44}, {'connected_gene': 'GLIS1', 'score': 0.1}]
chr1 GH01I053725 53725488 53725677 0.59 [{'connected_gene': 'RNU7-95P', 'score': 11.03}, {'connected_gene': 'GLIS1', 'score': 0.39}]
chr1 GH01I053529 53529903 53532299 0.38 [{'connected_gene': 'RNU7-95P', 'score': 10.93}, {'connected_gene': 'TCEANC2', 'score': 6.24}, {'connected_gene': 'PIR60882', 'score': 0.26}, {'connected_gene': 'DMRTB1', 'score': 0.19}, {'connected_gene': 'GLIS1', 'score': 0.08}]
chr1 GH01I053540 53540783 53544079 1.07 [{'connected_gene': 'PIR60882', 'score': 0.29}, {'connected_gene': 'DMRTB1', 'score': 0.18}, {'connected_gene': 'GLIS1', 'score': 0.08}]
chr1 GH01I053552 53552328 53552417 0.66 [{'connected_gene': 'PIR60882', 'score': 0.34}, {'connected_gene': 'DMRTB1', 'score': 0.16}, {'connected_gene': 'GLIS1', 'score': 0.09}]
chr1 GH01I053625 53625128 53625297 0.2 [{'connected_gene': 'GC01M053591', 'score': 0.29}, {'connected_gene': 'PIR52518', 'score': 0.29}, {'connected_gene': 'PIR51865', 'score': 0.25}, {'connected_gene': 'GLIS1', 'score': 0.14}]
chr1 GH01I053600 53600145 53601026 0.38 [{'connected_gene': 'GC01M053591', 'score': 0.39}, {'connected_gene': 'PIR52518', 'score': 0.39}, {'connected_gene': 'PIR51865', 'score': 0.19}, {'connected_gene': 'GLIS1', 'score': 0.12}]
chr1 GH01I053572 53572179 53573807 0.69 [{'connected_gene': 'PIR60882', 'score': 550.77}, {'connected_gene': 'RNU7-95P', 'score': 10.65}, {'connected_gene': 'HSPB11', 'score': 10.48}, {'connected_gene': 'DMRTB1', 'score': 0.14}, {'connected_gene': 'GLIS1', 'score': 0.1}]