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
ENST00000339690 [[148402068, 148402528], [148406763, 148407253], [148453657, 148453856], [148457028, 148457181], [148460968, 148461102], [148461528, 148461637], [148463629, 148466106]] [[148406833, 148407253], [148453657, 148453723]]
ENST00000358556 [[148402068, 148402528], [148406763, 148407253], [148457028, 148457181], [148460968, 148461102], [148461528, 148461637], [148463629, 148466106]] [[148406833, 148407253], [148457028, 148457181], [148460968, 148461102], [148461528, 148461637], [148463629, 148463770]]
ENST00000511804 [[148402083, 148402528], [148441002, 148441130], [148453657, 148453856], [148457028, 148457181], [148460968, 148461102], [148461528, 148461637], [148463629, 148464030]] [[148453784, 148453856], [148457028, 148457181], [148460968, 148461102], [148461528, 148461637], [148463629, 148463770]]
ENST00000324300 [[148402083, 148402528], [148406763, 148407253], [148441002, 148441130], [148453657, 148453856], [148457028, 148457181], [148460968, 148461102], [148461528, 148461637], [148463629, 148466106]] [[148406833, 148407253], [148441002, 148441130], [148453657, 148453856], [148457028, 148457181], [148460968, 148461102], [148461528, 148461637], [148463629, 148463770]]
ENST00000510697 [[148406833, 148407253], [148441002, 148441130], [148457028, 148457181], [148460968, 148461102], [148461528, 148461637], [148463629, 148463845]] [[148406833, 148407253], [148441002, 148441130], [148457028, 148457044]]
ENST00000506066 [[148406833, 148407253], [148457028, 148457181], [148460968, 148461102], [148461528, 148461637], [148463629, 148463845]] [[148406833, 148407253], [148457028, 148457181], [148460968, 148461102], [148461528, 148461637], [148463629, 148463770]]
ENST00000514245 [[148406985, 148407253], [148453657, 148453811]] None
ENST00000503721 [[148452794, 148452882], [148453657, 148453856], [148457028, 148457181], [148460968, 148461102], [148461528, 148461637], [148463629, 148465132]] None
NM_001256283 [[148402068, 148402528], [148441002, 148441130], [148453657, 148453856], [148457028, 148457181], [148460968, 148461102], [148461528, 148461637], [148463629, 148466106]] [[148453784, 148453856], [148457028, 148457181], [148460968, 148461102], [148461528, 148461637], [148463629, 148463770]]
NM_001166055 [[148402068, 148402528], [148406763, 148407253], [148457028, 148457181], [148460968, 148461102], [148461528, 148461637], [148463629, 148466106]] [[148406833, 148407253], [148457028, 148457181], [148460968, 148461102], [148461528, 148461637], [148463629, 148463770]]
NR_045958 [[148402068, 148402528], [148406763, 148407253], [148441002, 148441130], [148457028, 148457181], [148460968, 148461102], [148461528, 148461637], [148463629, 148466106]] None
NM_001957 [[148402068, 148402528], [148406763, 148407253], [148441002, 148441130], [148453657, 148453856], [148457028, 148457181], [148460968, 148461102], [148461528, 148461637], [148463629, 148466106]] [[148406833, 148407253], [148441002, 148441130], [148453657, 148453856], [148457028, 148457181], [148460968, 148461102], [148461528, 148461637], [148463629, 148463770]]
Promoter
Chrom Start End Description
chr4 148401920 148401930 CAGE_peak_7_at_EDNRA_5end
chr4 148402078 148402099 CAGE_peak_4_at_EDNRA_5end
chr4 148402109 148402132 CAGE_peak_2_at_EDNRA_5end
chr4 148402212 148402230 CAGE_peak_3_at_EDNRA_5end
chr4 148402237 148402276 CAGE_peak_1_at_EDNRA_5end
chr4 148402291 148402302 CAGE_peak_5_at_EDNRA_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I147453 147453573 147453847 0.63 [{'connected_gene': 'EDNRA', 'score': 6.45}, {'connected_gene': 'TMEM184C', 'score': 1.37}, {'connected_gene': 'PRMT5P1', 'score': 0.44}, {'connected_gene': 'RPL31P26', 'score': 0.31}]
chr4 GH04I147479 147479899 147479998 0.31 [{'connected_gene': 'EDNRA', 'score': 550.77}, {'connected_gene': 'PRMT5P1', 'score': 0.34}]
chr4 GH04I147353 147353676 147356878 0.43 [{'connected_gene': 'EDNRA', 'score': 4.78}, {'connected_gene': 'GC04P147361', 'score': 0.44}, {'connected_gene': 'MIR548G', 'score': 0.39}, {'connected_gene': 'GC04P147327', 'score': 0.31}]
chr4 GH04I147480 147480036 147482975 1.7 [{'connected_gene': 'EDNRA', 'score': 558.73}, {'connected_gene': 'GC04P147486', 'score': 0.44}]
chr4 GH04I147460 147460582 147461898 0.2 [{'connected_gene': 'PRMT5P1', 'score': 550.77}, {'connected_gene': 'EDNRA', 'score': 0.37}]
chr4 GH04I147497 147497669 147499368 0.51 [{'connected_gene': 'GC04P147493', 'score': 0.44}, {'connected_gene': 'GTF2F2P1', 'score': 0.44}, {'connected_gene': 'EDNRA', 'score': 0.37}]
chr4 GH04I147324 147324617 147327462 0.43 [{'connected_gene': 'GC04P147327', 'score': 550.77}, {'connected_gene': 'EDNRA', 'score': 13.72}, {'connected_gene': 'LOC105377476', 'score': 0.07}]
chr4 GH04I147359 147359345 147363870 0.82 [{'connected_gene': 'GC04P147361', 'score': 550.77}, {'connected_gene': 'EDNRA', 'score': 4.72}, {'connected_gene': 'GC04P147327', 'score': 0.29}, {'connected_gene': 'RPL31P26', 'score': 0.21}]
chr4 GH04I147491 147491844 147493537 0.63 [{'connected_gene': 'GC04P147493', 'score': 550.77}, {'connected_gene': 'EDNRA', 'score': 5.76}, {'connected_gene': 'ENSG00000280219', 'score': 0.77}, {'connected_gene': 'GC04P147486', 'score': 0.44}]