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
ENST00000241124 [[20796109, 20797634], [20803718, 20803888], [20805004, 20805117]] [[20796833, 20797619]]
ENST00000400066 [[20796109, 20797634], [20803718, 20803888], [20805520, 20805644], [20806332, 20806440]] [[20796833, 20797619]]
ENST00000400065 [[20796109, 20797634], [20803718, 20803888], [20806332, 20806442]] [[20796833, 20797619]]
ENST00000356192 [[20796109, 20797634], [20803718, 20803888], [20804836, 20804946], [20805520, 20805644], [20806332, 20806534]] [[20796833, 20797619]]
NM_006783 [[20796100, 20797634], [20803718, 20803888], [20805004, 20805372]] [[20796833, 20797619]]
NM_001110219 [[20796100, 20797634], [20803718, 20803888], [20804836, 20804946], [20805520, 20805644], [20806332, 20806534]] [[20796833, 20797619]]
NM_001110220 [[20796100, 20797634], [20803718, 20803888], [20805520, 20805644], [20806332, 20806534]] [[20796833, 20797619]]
NM_001110221 [[20796100, 20797634], [20803718, 20803888], [20806332, 20806534]] [[20796833, 20797619]]
Promoter
Chrom Start End Description
chr13 20805079 20805095 CAGE_peak_2_at_GJB6_5end
chr13 20805109 20805126 CAGE_peak_3_at_GJB6_5end
chr13 20805611 20805619 CAGE_peak_6_at_GJB6_5end
chr13 20806362 20806373 CAGE_peak_4_at_GJB6_5end
chr13 20806422 20806431 CAGE_peak_5_at_GJB6_5end
chr13 20806445 20806465 CAGE_peak_1_at_GJB6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I020411 20411447 20413586 0.96 [{'connected_gene': 'CRYL1', 'score': 15.22}, {'connected_gene': 'GJB2', 'score': 10.89}, {'connected_gene': 'GJB6', 'score': 4.33}, {'connected_gene': 'MIR4499', 'score': 0.34}, {'connected_gene': 'LOC105370102', 'score': 0.13}]
chr13 GH13I020400 20400862 20401094 0.74 [{'connected_gene': 'GJB2', 'score': 13.31}, {'connected_gene': 'CRYL1', 'score': 9.88}, {'connected_gene': 'GJB6', 'score': 3.69}, {'connected_gene': 'MIR4499', 'score': 0.29}, {'connected_gene': 'LOC105370102', 'score': 0.14}]
chr13 GH13I020405 20405402 20406268 0.81 [{'connected_gene': 'GJB2', 'score': 19.59}, {'connected_gene': 'GJB6', 'score': 7.04}, {'connected_gene': 'MIR4499', 'score': 0.31}, {'connected_gene': 'LOC105370102', 'score': 0.14}, {'connected_gene': 'CRYL1', 'score': 0.13}]
chr13 GH13I020197 20197422 20197611 0.6 [{'connected_gene': 'GJB2', 'score': 8.81}, {'connected_gene': 'ENSG00000279065', 'score': 0.77}, {'connected_gene': 'GJB6', 'score': 0.29}]
chr13 GH13I020231 20231202 20233100 1.04 [{'connected_gene': 'GJB6', 'score': 557.21}, {'connected_gene': 'EEF1AKMT1', 'score': 10.22}, {'connected_gene': 'SLC35E1P1', 'score': 10.22}, {'connected_gene': 'TPTE2', 'score': 9.87}, {'connected_gene': 'MPHOSPH8', 'score': 9.66}, {'connected_gene': 'ENSG00000279065', 'score': 0.28}]
chr13 GH13I020263 20263379 20264694 0.59 [{'connected_gene': 'GJB6', 'score': 0.29}, {'connected_gene': 'LOC105370102', 'score': 0.29}]
chr13 GH13I020230 20230937 20230996 0.61 [{'connected_gene': 'GJB6', 'score': 550.77}, {'connected_gene': 'ENSG00000279065', 'score': 0.28}]
chr13 GH13I020435 20435722 20435871 0.38 [{'connected_gene': 'MIR4499', 'score': 550.77}, {'connected_gene': 'GJB6', 'score': 10.88}, {'connected_gene': 'CRYL1', 'score': 0.16}]
chr13 GH13I020198 20197642 20197651 0.6 [{'connected_gene': 'ENSG00000279065', 'score': 0.77}, {'connected_gene': 'GJB6', 'score': 0.29}]

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