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
ENST00000497970 [[117653681, 117653834], [117654716, 117655075], [117655980, 117656107], [117658196, 117658234]] [[117654926, 117655075], [117655980, 117656107], [117658196, 117658234]]
ENST00000256649 [[117653681, 117655075], [117655980, 117656107], [117658196, 117658311], [117659237, 117659367], [117660655, 117661389], [117663335, 117664350]] [[117654926, 117655075], [117655980, 117656107], [117658196, 117658311], [117659237, 117659367], [117660655, 117661389], [117663335, 117663823]]
ENST00000369464 [[117653681, 117655075], [117655980, 117656107], [117658196, 117658311], [117659237, 117659367], [117660709, 117661389], [117663335, 117664384]] [[117654926, 117655075], [117655980, 117656107], [117658196, 117658311], [117659237, 117659367], [117660709, 117661389], [117663335, 117663823]]
ENST00000369461 [[117654806, 117655075], [117655980, 117656107], [117658196, 117658311], [117659237, 117659367], [117660655, 117661389], [117663335, 117663586], [117664420, 117665209]] [[117654926, 117655075], [117655980, 117656107], [117658196, 117658311], [117659237, 117659367], [117660655, 117661389], [117663335, 117663586], [117664420, 117664486]]
ENST00000485032 [[117660655, 117661389], [117663335, 117663523], [117664227, 117664414]] [[117660655, 117661389], [117663335, 117663511]]
NM_025188 [[117653676, 117655075], [117655980, 117656107], [117658196, 117658311], [117659237, 117659367], [117660655, 117661389], [117663335, 117664411]] [[117654926, 117655075], [117655980, 117656107], [117658196, 117658311], [117659237, 117659367], [117660655, 117661389], [117663335, 117663823]]
NM_001145635 [[117653676, 117655075], [117655980, 117656107], [117658196, 117658311], [117659237, 117659367], [117660709, 117661389], [117663335, 117664411]] [[117654926, 117655075], [117655980, 117656107], [117658196, 117658311], [117659237, 117659367], [117660709, 117661389], [117663335, 117663823]]
Promoter
Chrom Start End Description
chr1 117664317 117664379 CAGE_peak_1_at_TRIM45_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I116569 116569182 116572275 2.54 [{'connected_gene': 'CD58', 'score': 559.08}, {'connected_gene': 'MAN1A2', 'score': 11.52}, {'connected_gene': 'TRIM45', 'score': 9.93}, {'connected_gene': 'ATP1A1-AS1', 'score': 5.58}, {'connected_gene': 'ATP1A1', 'score': 4.84}, {'connected_gene': 'IGSF3', 'score': 4.41}, {'connected_gene': 'CD101', 'score': 3.64}, {'connected_gene': 'TTF2', 'score': 1.71}, {'connected_gene': 'MIR548AC', 'score': 0.39}]
chr1 GH01I116481 116481277 116485842 1.35 [{'connected_gene': 'ATP1A1-AS1', 'score': 10.96}, {'connected_gene': 'ATP1A1', 'score': 10.78}, {'connected_gene': 'CASQ2', 'score': 4.98}, {'connected_gene': 'TRIM45', 'score': 4.4}, {'connected_gene': 'LINC01762', 'score': 0.77}, {'connected_gene': 'ENSG00000224950', 'score': 0.37}]
chr1 GH01I117076 117076404 117078223 0.98 [{'connected_gene': 'TTF2', 'score': 12.8}, {'connected_gene': 'TRIM45', 'score': 11.09}, {'connected_gene': 'CD101', 'score': 3.4}, {'connected_gene': 'MIR942', 'score': 0.37}]
chr1 GH01I117114 117114004 117115201 0.49 [{'connected_gene': 'TRIM45', 'score': 5.67}, {'connected_gene': 'TTF2', 'score': 5.01}, {'connected_gene': 'PIR35685', 'score': 0.77}, {'connected_gene': 'MIR942', 'score': 0.37}]
chr1 GH01I117262 117262767 117263955 0.31 [{'connected_gene': 'TRIM45', 'score': 10.2}, {'connected_gene': 'MAN1A2', 'score': 9.99}, {'connected_gene': 'VTCN1', 'score': 0.44}, {'connected_gene': 'ENSG00000277141', 'score': 0.37}]
chr1 GH01I117120 117120674 117123582 2.02 [{'connected_gene': 'TRIM45', 'score': 560.67}, {'connected_gene': 'WDR3', 'score': 49.57}, {'connected_gene': 'ATP1A1-AS1', 'score': 18.19}, {'connected_gene': 'VTCN1', 'score': 16.37}, {'connected_gene': 'ENSG00000212266', 'score': 8.63}, {'connected_gene': 'TTF2', 'score': 4.98}, {'connected_gene': 'PIR35685', 'score': 0.77}]
chr1 GH01I117096 117096621 117098260 0.62 [{'connected_gene': 'TRIM45', 'score': 11.14}, {'connected_gene': 'MIR942', 'score': 0.77}, {'connected_gene': 'PIR35685', 'score': 0.34}, {'connected_gene': 'TTF2', 'score': 0.28}]
chr1 GH01I117266 117266601 117272576 0.82 [{'connected_gene': 'VTCN1', 'score': 550.77}, {'connected_gene': 'TRIM45', 'score': 10.2}, {'connected_gene': 'MAN1A2', 'score': 10.0}, {'connected_gene': 'LINC01525', 'score': 4.82}, {'connected_gene': 'ENSG00000277141', 'score': 0.31}]
chr1 GH01I116371 116371905 116381809 2.59 [{'connected_gene': 'ATP1A1', 'score': 556.73}, {'connected_gene': 'ATP1A1-AS1', 'score': 17.46}, {'connected_gene': 'CD58', 'score': 9.98}, {'connected_gene': 'TRIM45', 'score': 9.92}, {'connected_gene': 'NAP1L4P1', 'score': 4.21}, {'connected_gene': 'SLC22A15', 'score': 2.19}, {'connected_gene': 'GC01P116389', 'score': 0.39}, {'connected_gene': 'GC01P116388', 'score': 0.39}]
chr1 GH01I116877 116877161 116880253 1.54 [{'connected_gene': 'MAN1A2', 'score': 41.25}, {'connected_gene': 'ATP1A1-AS1', 'score': 39.48}, {'connected_gene': 'PTGFRN', 'score': 11.39}, {'connected_gene': 'CD2', 'score': 10.77}, {'connected_gene': 'CD101', 'score': 10.29}, {'connected_gene': 'TRIM45', 'score': 9.97}, {'connected_gene': 'TTF2', 'score': 1.63}, {'connected_gene': 'LOC105378927', 'score': 0.77}, {'connected_gene': 'FTH1P22', 'score': 0.15}]
chr1 GH01I117339 117339368 117340803 1.22 [{'connected_gene': 'MAN1A2', 'score': 12.11}, {'connected_gene': 'ENSG00000271427', 'score': 11.29}, {'connected_gene': 'TRIM45', 'score': 10.09}, {'connected_gene': 'CD58', 'score': 9.97}, {'connected_gene': 'GC01M117313', 'score': 0.37}, {'connected_gene': 'LINC01525', 'score': 0.26}]
chr1 GH01I117128 117128401 117129000 0.56 [{'connected_gene': 'MIR942', 'score': 10.37}, {'connected_gene': 'TTF2', 'score': 10.28}, {'connected_gene': 'MAN1A2', 'score': 9.43}, {'connected_gene': 'VTCN1', 'score': 8.28}, {'connected_gene': 'TRIM45', 'score': 0.44}, {'connected_gene': 'RPS15AP9', 'score': 0.44}]
chr1 GH01I117070 117070419 117070568 0.46 [{'connected_gene': 'MIR942', 'score': 11.47}, {'connected_gene': 'TRIM45', 'score': 11.18}, {'connected_gene': 'TTF2', 'score': 0.39}]
chr1 GH01I117071 117070179 117070328 0.57 [{'connected_gene': 'MIR942', 'score': 11.47}, {'connected_gene': 'TRIM45', 'score': 11.18}, {'connected_gene': 'TTF2', 'score': 0.44}]
chr1 GH01I117091 117091875 117095488 1.08 [{'connected_gene': 'MIR942', 'score': 550.77}, {'connected_gene': 'TRIM45', 'score': 7.48}, {'connected_gene': 'TTF2', 'score': 6.82}]
chr1 GH01I117069 117069457 117070024 0.46 [{'connected_gene': 'MIR942', 'score': 11.47}, {'connected_gene': 'TRIM45', 'score': 11.18}, {'connected_gene': 'TTF2', 'score': 9.94}]
chr1 GH01I117050 117050820 117052623 0.87 [{'connected_gene': 'PIR49222', 'score': 550.77}, {'connected_gene': 'CD101', 'score': 10.55}, {'connected_gene': 'CD2', 'score': 10.49}, {'connected_gene': 'CD58', 'score': 10.15}, {'connected_gene': 'TRIM45', 'score': 9.96}, {'connected_gene': 'C1orf137', 'score': 9.62}, {'connected_gene': 'LOC101929099', 'score': 0.44}]