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
ENST00000215570 [[2425621, 2427044], [2427253, 2427322], [2427411, 2427892]] [[2426945, 2427044], [2427253, 2427322], [2427411, 2427531]]
ENST00000591871 [[2426562, 2427044], [2427253, 2427322], [2427456, 2427536]] [[2426945, 2427044], [2427253, 2427322], [2427456, 2427531]]
NM_012458 [[2425621, 2427044], [2427253, 2427322], [2427411, 2427914]] [[2426945, 2427044], [2427253, 2427322], [2427411, 2427531]]
Promoter
Chrom Start End Description
chr19 2427539 2427591 CAGE_peak_1_at_TIMM13_5end
chr19 2427863 2427915 CAGE_peak_2_at_TIMM13_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I002454 2454324 2457849 1.97 [{'connected_gene': 'LMNB2', 'score': 550.77}, {'connected_gene': 'TMPRSS9', 'score': 14.16}, {'connected_gene': 'TIMM13', 'score': 11.85}, {'connected_gene': 'ENSG00000267214', 'score': 5.46}, {'connected_gene': 'GC19P002446', 'score': 0.44}]
chr19 GH19I002474 2474600 2480246 2.56 [{'connected_gene': 'GADD45B', 'score': 566.83}, {'connected_gene': 'GC19P002477', 'score': 550.77}, {'connected_gene': 'SF3A2', 'score': 39.53}, {'connected_gene': 'TCF3', 'score': 27.09}, {'connected_gene': 'LOC100288123', 'score': 23.31}, {'connected_gene': 'ZNF77', 'score': 19.37}, {'connected_gene': 'ZNF554', 'score': 13.67}, {'connected_gene': 'ENSG00000267139', 'score': 11.9}, {'connected_gene': 'MBD3', 'score': 10.3}, {'connected_gene': 'ENSG00000267283', 'score': 10.27}, {'connected_gene': 'DOT1L', 'score': 6.89}, {'connected_gene': 'TIMM13', 'score': 6.12}, {'connected_gene': 'LOC101928631', 'score': 5.15}, {'connected_gene': 'AMH', 'score': 4.7}, {'connected_gene': 'GC19P002483', 'score': 0.44}]
chr19 GH19I002452 2452712 2453347 0.52 [{'connected_gene': 'TMPRSS9', 'score': 12.65}, {'connected_gene': 'TIMM13', 'score': 7.31}, {'connected_gene': 'REXO1', 'score': 5.0}, {'connected_gene': 'LMNB2', 'score': 0.77}, {'connected_gene': 'GC19P002446', 'score': 0.44}]
chr19 GH19I002422 2422740 2429582 2.08 [{'connected_gene': 'TIMM13', 'score': 577.39}, {'connected_gene': 'PIR39105', 'score': 550.77}, {'connected_gene': 'PIR60720', 'score': 550.77}, {'connected_gene': 'TMPRSS9', 'score': 22.02}, {'connected_gene': 'RPS15', 'score': 11.16}, {'connected_gene': 'SF3A2', 'score': 10.92}, {'connected_gene': 'SCAMP4', 'score': 4.66}, {'connected_gene': 'LMNB2', 'score': 0.29}]
chr19 GH19I002393 2393929 2396542 1.33 [{'connected_gene': 'TIMM13', 'score': 9.72}, {'connected_gene': 'TMPRSS9', 'score': 9.4}, {'connected_gene': 'SPPL2B', 'score': 7.56}, {'connected_gene': 'DOT1L', 'score': 2.1}, {'connected_gene': 'CSNK1G2', 'score': 1.63}, {'connected_gene': 'PIR50739', 'score': 0.77}, {'connected_gene': 'GC19P002378', 'score': 0.37}, {'connected_gene': 'PIR39105', 'score': 0.29}]
chr19 GH19I002461 2461195 2463792 1.77 [{'connected_gene': 'LINC01775', 'score': 550.77}, {'connected_gene': 'GNA11', 'score': 21.99}, {'connected_gene': 'ZNF555', 'score': 21.18}, {'connected_gene': 'ZNF554', 'score': 20.48}, {'connected_gene': 'SF3A2', 'score': 18.91}, {'connected_gene': 'TCF3', 'score': 17.04}, {'connected_gene': 'LOC100288123', 'score': 15.5}, {'connected_gene': 'ZNF77', 'score': 12.79}, {'connected_gene': 'TIMM13', 'score': 12.4}, {'connected_gene': 'TLE2', 'score': 12.02}, {'connected_gene': 'ATP8B3', 'score': 11.96}, {'connected_gene': 'CSNK1G2', 'score': 11.2}, {'connected_gene': 'DOT1L', 'score': 10.81}, {'connected_gene': 'SPPL2B', 'score': 10.31}, {'connected_gene': 'GADD45B', 'score': 0.39}]
chr19 GH19I002288 2288541 2290648 1.61 [{'connected_gene': 'GC19M002288', 'score': 550.77}, {'connected_gene': 'ZNF77', 'score': 14.07}, {'connected_gene': 'AP3D1', 'score': 11.86}, {'connected_gene': 'MUM1', 'score': 10.88}, {'connected_gene': 'SPPL2B', 'score': 10.79}, {'connected_gene': 'LSM7', 'score': 10.45}, {'connected_gene': 'ZNF555', 'score': 10.4}, {'connected_gene': 'ENSG00000261526', 'score': 10.07}, {'connected_gene': 'TIMM13', 'score': 6.53}, {'connected_gene': 'ABHD17A', 'score': 5.31}, {'connected_gene': 'LOC101928572', 'score': 0.39}, {'connected_gene': 'LINGO3', 'score': 0.37}, {'connected_gene': 'ENSG00000273734', 'score': 0.34}]
chr19 GH19I002539 2539443 2548068 1.77 [{'connected_gene': 'PIR51282', 'score': 550.77}, {'connected_gene': 'GADD45B', 'score': 11.62}, {'connected_gene': 'DOT1L', 'score': 3.84}, {'connected_gene': 'TIMM13', 'score': 1.35}, {'connected_gene': 'GNG7', 'score': 1.33}, {'connected_gene': 'GC19P002552', 'score': 0.44}, {'connected_gene': 'GC19P002551', 'score': 0.44}]
chr19 GH19I002446 2446144 2447888 0.72 [{'connected_gene': 'GC19P002446', 'score': 550.77}, {'connected_gene': 'TMPRSS9', 'score': 17.63}, {'connected_gene': 'TIMM13', 'score': 12.56}, {'connected_gene': 'LMNB2', 'score': 0.44}]
chr19 GH19I002391 2391235 2391572 1.03 [{'connected_gene': 'PIR50739', 'score': 550.77}, {'connected_gene': 'TIMM13', 'score': 4.81}, {'connected_gene': 'TMPRSS9', 'score': 0.44}, {'connected_gene': 'GC19P002378', 'score': 0.39}]
chr19 GH19I002487 2487749 2490071 1.38 [{'connected_gene': 'GC19P002492', 'score': 550.77}, {'connected_gene': 'ATP8B3', 'score': 5.37}, {'connected_gene': 'BTBD2', 'score': 4.1}, {'connected_gene': 'MOB3A', 'score': 2.35}, {'connected_gene': 'PLEKHJ1', 'score': 2.16}, {'connected_gene': 'TIMM13', 'score': 1.83}, {'connected_gene': 'SGTA', 'score': 1.7}, {'connected_gene': 'SF3A2', 'score': 1.4}, {'connected_gene': 'PIR42747', 'score': 0.77}]