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
ENST00000375826 [[15898847, 15900219], [15901251, 15901336], [15904179, 15904359], [15905353, 15905549], [15906588, 15906637], [15909687, 15909890], [15911190, 15911605]] [[15900145, 15900219], [15901251, 15901336], [15904179, 15904359], [15905353, 15905549], [15906588, 15906637], [15909687, 15909890], [15911190, 15911462]]
NM_024758 [[15898193, 15900219], [15901251, 15901336], [15904179, 15904359], [15905353, 15905549], [15906588, 15906637], [15909687, 15909890], [15911190, 15911605]] [[15900145, 15900219], [15901251, 15901336], [15904179, 15904359], [15905353, 15905549], [15906588, 15906637], [15909687, 15909890], [15911190, 15911462]]
Promoter
Chrom Start End Description
chr1 15911510 15911579 CAGE_peak_1_at_AGMAT_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I015615 15615671 15621054 2.55 [{'connected_gene': 'DDI2', 'score': 553.3}, {'connected_gene': 'CROCCP3', 'score': 24.77}, {'connected_gene': 'NBPF1', 'score': 19.78}, {'connected_gene': 'LINC01772', 'score': 18.92}, {'connected_gene': 'PLEKHM2', 'score': 11.19}, {'connected_gene': 'ZBTB17', 'score': 10.81}, {'connected_gene': 'AGMAT', 'score': 10.7}, {'connected_gene': 'SLC25A34', 'score': 10.26}, {'connected_gene': 'ENSG00000237938', 'score': 9.9}, {'connected_gene': 'EFHD2', 'score': 3.23}, {'connected_gene': 'SPEN', 'score': 2.44}, {'connected_gene': 'CASP9', 'score': 1.28}, {'connected_gene': 'PIR39170', 'score': 0.26}, {'connected_gene': 'GC01P015660', 'score': 0.26}]
chr1 GH01I015522 15522346 15528292 2.32 [{'connected_gene': 'CASP9', 'score': 570.34}, {'connected_gene': 'DNAJC16', 'score': 550.77}, {'connected_gene': 'ENSG00000237938', 'score': 29.09}, {'connected_gene': 'SPEN', 'score': 21.15}, {'connected_gene': 'AGMAT', 'score': 21.1}, {'connected_gene': 'ZBTB17', 'score': 13.44}, {'connected_gene': 'RPL22P3', 'score': 11.96}, {'connected_gene': 'ARHGEF19', 'score': 11.93}, {'connected_gene': 'RPS16P1', 'score': 11.2}, {'connected_gene': 'GC01P015468', 'score': 0.22}]
chr1 GH01I015583 15583855 15585713 2.14 [{'connected_gene': 'AGMAT', 'score': 570.73}, {'connected_gene': 'CASP9', 'score': 14.93}, {'connected_gene': 'PIR62159', 'score': 0.37}, {'connected_gene': 'DNAJC16', 'score': 0.22}]
chr1 GH01I015507 15507711 15509848 0.86 [{'connected_gene': 'AGMAT', 'score': 20.81}, {'connected_gene': 'CASP9', 'score': 18.99}, {'connected_gene': 'GC01P015468', 'score': 0.26}]
chr1 GH01I015458 15458846 15461161 1.1 [{'connected_gene': 'AGMAT', 'score': 4.73}, {'connected_gene': 'SLC25A34', 'score': 4.25}, {'connected_gene': 'CELA2A', 'score': 3.45}, {'connected_gene': 'CELA2B', 'score': 3.11}, {'connected_gene': 'CTRC', 'score': 2.56}, {'connected_gene': 'PLEKHM2', 'score': 1.97}, {'connected_gene': 'LOC105376767', 'score': 0.77}]
chr1 GH01I015469 15469519 15470487 0.38 [{'connected_gene': 'AGMAT', 'score': 9.19}, {'connected_gene': 'SLC25A34', 'score': 7.93}, {'connected_gene': 'GC01P015468', 'score': 0.77}, {'connected_gene': 'CELA2B', 'score': 0.77}, {'connected_gene': 'CELA2A', 'score': 0.39}, {'connected_gene': 'CASP9', 'score': 0.22}]
chr1 GH01I015558 15558266 15560505 0.69 [{'connected_gene': 'AGMAT', 'score': 9.45}, {'connected_gene': 'SLC25A34', 'score': 5.8}, {'connected_gene': 'PIR45878', 'score': 0.77}, {'connected_gene': 'GC01P015565', 'score': 0.77}, {'connected_gene': 'SCARNA21B', 'score': 0.37}, {'connected_gene': 'DNAJC16', 'score': 0.29}]
chr1 GH01I015571 15571654 15572455 0.49 [{'connected_gene': 'AGMAT', 'score': 10.25}, {'connected_gene': 'PIR62159', 'score': 0.77}, {'connected_gene': 'DNAJC16', 'score': 0.25}]
chr1 GH01I015488 15488369 15489835 0.38 [{'connected_gene': 'AGMAT', 'score': 21.78}, {'connected_gene': 'CTRC', 'score': 11.96}, {'connected_gene': 'LOC101927417', 'score': 10.99}, {'connected_gene': 'FHAD1', 'score': 10.95}, {'connected_gene': 'GC01P015468', 'score': 0.34}, {'connected_gene': 'CELA2B', 'score': 0.34}, {'connected_gene': 'CASP9', 'score': 0.28}]
chr1 GH01I015573 15573404 15575771 0.84 [{'connected_gene': 'SPEN', 'score': 84.51}, {'connected_gene': 'ENSG00000237938', 'score': 51.83}, {'connected_gene': 'RPL22P3', 'score': 42.18}, {'connected_gene': 'FBXO42', 'score': 35.11}, {'connected_gene': 'RPS16P1', 'score': 20.88}, {'connected_gene': 'ZBTB17', 'score': 20.26}, {'connected_gene': 'CROCCP3', 'score': 14.91}, {'connected_gene': 'ENSG00000237301', 'score': 13.6}, {'connected_gene': 'LINC01772', 'score': 11.72}, {'connected_gene': 'SPATA21', 'score': 11.41}, {'connected_gene': 'DNAJC16', 'score': 10.31}, {'connected_gene': 'ARHGEF19', 'score': 10.04}, {'connected_gene': 'AGMAT', 'score': 9.85}, {'connected_gene': 'PIR62159', 'score': 0.44}]
chr1 GH01I015605 15605490 15606689 0.8 [{'connected_gene': 'CHCHD2P6', 'score': 550.77}, {'connected_gene': 'PIR54927', 'score': 550.77}, {'connected_gene': 'PIR62449', 'score': 550.77}, {'connected_gene': 'GC01P015607', 'score': 550.77}, {'connected_gene': 'SLC25A34', 'score': 10.31}, {'connected_gene': 'AGMAT', 'score': 9.77}, {'connected_gene': 'TMEM82', 'score': 5.96}, {'connected_gene': 'RNU7-179P', 'score': 0.77}, {'connected_gene': 'GC01P015603', 'score': 0.77}]
chr1 GH01I015601 15601099 15604389 1.93 [{'connected_gene': 'CHCHD2P6', 'score': 550.77}, {'connected_gene': 'PIR62449', 'score': 550.77}, {'connected_gene': 'GC01P015603', 'score': 550.77}, {'connected_gene': 'PIR41201', 'score': 550.77}, {'connected_gene': 'ENSG00000237301', 'score': 550.77}, {'connected_gene': 'ENSG00000237938', 'score': 16.05}, {'connected_gene': 'ARHGEF19', 'score': 12.71}, {'connected_gene': 'CROCCP3', 'score': 12.39}, {'connected_gene': 'LINC01772', 'score': 11.68}, {'connected_gene': 'ZBTB17', 'score': 11.37}, {'connected_gene': 'AGMAT', 'score': 10.71}, {'connected_gene': 'NECAP2', 'score': 10.47}, {'connected_gene': 'PLEKHM2', 'score': 10.38}, {'connected_gene': 'RPL22P3', 'score': 10.33}, {'connected_gene': 'RPS16P1', 'score': 10.29}, {'connected_gene': 'SLC25A34', 'score': 10.16}, {'connected_gene': 'ENSG00000224621', 'score': 10.13}]
chr1 GH01I015624 15624528 15627054 0.67 [{'connected_gene': 'RSC1A1', 'score': 11.82}, {'connected_gene': 'PLEKHM2', 'score': 11.67}, {'connected_gene': 'FBLIM1', 'score': 10.81}, {'connected_gene': 'SCARNA21B', 'score': 10.78}, {'connected_gene': 'SLC25A34', 'score': 10.01}, {'connected_gene': 'AGMAT', 'score': 9.42}, {'connected_gene': 'DDI2', 'score': 0.44}, {'connected_gene': 'PIR39170', 'score': 0.29}, {'connected_gene': 'GC01P015660', 'score': 0.29}]
chr1 GH01I015596 15596721 15597367 0.74 [{'connected_gene': 'FBLIM1', 'score': 24.12}, {'connected_gene': 'CASP9', 'score': 15.56}, {'connected_gene': 'SZRD1', 'score': 12.51}, {'connected_gene': 'RPL22P3', 'score': 12.32}, {'connected_gene': 'RPS16P1', 'score': 12.31}, {'connected_gene': 'ENSG00000237938', 'score': 11.93}, {'connected_gene': 'SCARNA21B', 'score': 11.36}, {'connected_gene': 'ENSG00000224621', 'score': 11.34}, {'connected_gene': 'ARHGEF19', 'score': 11.15}, {'connected_gene': 'AGMAT', 'score': 10.66}, {'connected_gene': 'SPEN', 'score': 10.65}, {'connected_gene': 'SLC25A34', 'score': 9.83}, {'connected_gene': 'ENSG00000237301', 'score': 0.44}, {'connected_gene': 'PIR41201', 'score': 0.44}]
chr1 GH01I015597 15597847 15599464 0.66 [{'connected_gene': 'FBLIM1', 'score': 11.82}, {'connected_gene': 'AGMAT', 'score': 10.39}, {'connected_gene': 'SLC25A34', 'score': 10.02}, {'connected_gene': 'PIR41201', 'score': 0.77}, {'connected_gene': 'ENSG00000237301', 'score': 0.77}]
chr1 GH01I015734 15734708 15737734 1.67 [{'connected_gene': 'SLC25A34', 'score': 585.87}, {'connected_gene': 'ENSG00000237938', 'score': 550.77}, {'connected_gene': 'AGMAT', 'score': 5.16}, {'connected_gene': 'PLEKHM2', 'score': 0.23}]
chr1 GH01I015678 15678359 15686355 2.59 [{'connected_gene': 'PLEKHM2', 'score': 574.96}, {'connected_gene': 'ENSG00000271742', 'score': 550.77}, {'connected_gene': 'SPEN', 'score': 21.74}, {'connected_gene': 'CROCCP3', 'score': 18.97}, {'connected_gene': 'CASP9', 'score': 14.0}, {'connected_gene': 'SLC25A34', 'score': 13.75}, {'connected_gene': 'LINC01772', 'score': 13.51}, {'connected_gene': 'CROCCP2', 'score': 10.53}, {'connected_gene': 'ZBTB17', 'score': 10.36}, {'connected_gene': 'RPL22P3', 'score': 9.94}, {'connected_gene': 'AGMAT', 'score': 9.14}, {'connected_gene': 'EFHD2', 'score': 7.29}, {'connected_gene': 'TMEM82', 'score': 5.35}, {'connected_gene': 'FAM131C', 'score': 4.59}, {'connected_gene': 'FHAD1', 'score': 1.63}, {'connected_gene': 'PIR59281', 'score': 0.77}, {'connected_gene': 'PIR34126', 'score': 0.39}]
chr1 GH01I015591 15591675 15593983 0.43 [{'connected_gene': 'PLEKHM2', 'score': 16.25}, {'connected_gene': 'SCARNA21B', 'score': 11.64}, {'connected_gene': 'AGMAT', 'score': 10.94}, {'connected_gene': 'FBLIM1', 'score': 10.63}, {'connected_gene': 'RSC1A1', 'score': 10.48}, {'connected_gene': 'SLC25A34', 'score': 10.37}, {'connected_gene': 'CASP9', 'score': 9.9}, {'connected_gene': 'TMEM82', 'score': 5.96}, {'connected_gene': 'ENSG00000237301', 'score': 0.39}, {'connected_gene': 'PIR41201', 'score': 0.39}, {'connected_gene': 'DNAJC16', 'score': 0.2}]
chr1 GH01I015631 15631011 15631701 0.64 [{'connected_gene': 'TMEM51-AS1', 'score': 22.33}, {'connected_gene': 'SLC25A34', 'score': 21.27}, {'connected_gene': 'NBPF1', 'score': 20.07}, {'connected_gene': 'SPEN', 'score': 20.04}, {'connected_gene': 'CROCCP3', 'score': 12.51}, {'connected_gene': 'RSC1A1', 'score': 11.53}, {'connected_gene': 'AGMAT', 'score': 11.36}, {'connected_gene': 'PLEKHM2', 'score': 11.24}, {'connected_gene': 'RNU7-179P', 'score': 11.23}, {'connected_gene': 'ENSG00000237938', 'score': 11.05}, {'connected_gene': 'SCARNA21B', 'score': 11.01}, {'connected_gene': 'LINC01772', 'score': 10.96}, {'connected_gene': 'FBLIM1', 'score': 10.73}, {'connected_gene': 'ENSG00000237301', 'score': 10.23}, {'connected_gene': 'TMEM82', 'score': 5.32}, {'connected_gene': 'DDI2', 'score': 0.39}, {'connected_gene': 'PIR39170', 'score': 0.31}, {'connected_gene': 'GC01P015660', 'score': 0.31}]
chr1 GH01I015629 15629773 15630860 0.86 [{'connected_gene': 'TMEM51-AS1', 'score': 22.33}, {'connected_gene': 'SLC25A34', 'score': 21.16}, {'connected_gene': 'NBPF1', 'score': 20.07}, {'connected_gene': 'SPEN', 'score': 20.04}, {'connected_gene': 'CROCCP3', 'score': 12.51}, {'connected_gene': 'RSC1A1', 'score': 11.84}, {'connected_gene': 'PLEKHM2', 'score': 11.24}, {'connected_gene': 'RNU7-179P', 'score': 11.23}, {'connected_gene': 'ENSG00000237938', 'score': 11.19}, {'connected_gene': 'SCARNA21B', 'score': 11.01}, {'connected_gene': 'LINC01772', 'score': 10.96}, {'connected_gene': 'FBLIM1', 'score': 10.73}, {'connected_gene': 'AGMAT', 'score': 10.28}, {'connected_gene': 'ENSG00000237301', 'score': 10.23}, {'connected_gene': 'DDI2', 'score': 0.39}, {'connected_gene': 'PIR39170', 'score': 0.31}, {'connected_gene': 'GC01P015660', 'score': 0.31}]
chr1 GH01I015543 15543286 15544335 1.19 [{'connected_gene': 'SCARNA21B', 'score': 550.77}, {'connected_gene': 'GC01P015544', 'score': 550.77}, {'connected_gene': 'AGMAT', 'score': 17.17}, {'connected_gene': 'ENSG00000237938', 'score': 9.85}, {'connected_gene': 'ZBTB17', 'score': 9.76}, {'connected_gene': 'PIR45878', 'score': 0.37}, {'connected_gene': 'GC01P015565', 'score': 0.37}, {'connected_gene': 'DNAJC16', 'score': 0.37}]
chr1 GH01I015578 15578458 15581386 0.92 [{'connected_gene': 'SCARNA21B', 'score': 11.76}, {'connected_gene': 'RNU7-179P', 'score': 11.48}, {'connected_gene': 'PLEKHM2', 'score': 11.25}, {'connected_gene': 'RSC1A1', 'score': 10.01}, {'connected_gene': 'AGMAT', 'score': 9.45}, {'connected_gene': 'PIR62159', 'score': 0.39}, {'connected_gene': 'DNAJC16', 'score': 0.23}]

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