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
ENST00000587522 [[19623226, 19623351], [19624963, 19626357]] [[19625414, 19626236]]
ENST00000360913 [[19623229, 19623547], [19624643, 19626838]] [[19625414, 19626236]]
ENST00000602623 [[19623264, 19623351], [19624953, 19625744]] [[19625414, 19625744]]
ENST00000585580 [[19625027, 19626494]] [[19625414, 19626236]]
NM_032037 [[19625027, 19626469]] [[19625414, 19626236]]
Promoter
Chrom Start End Description
chr19 19626086 19626104 CAGE_peak_5_at_TSSK6_5end
chr19 19626351 19626365 CAGE_peak_2_at_TSSK6_5end
chr19 19626951 19626991 CAGE_peak_1_at_TSSK6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I019514 19514592 19514741 0.43 [{'connected_gene': 'TSSK6', 'score': 550.77}, {'connected_gene': 'ENSG00000258674', 'score': 550.77}, {'connected_gene': 'NDUFA13', 'score': 550.77}, {'connected_gene': 'PIR50534', 'score': 550.77}, {'connected_gene': 'GATAD2A', 'score': 14.65}, {'connected_gene': 'GC19M019509', 'score': 0.77}]
chr19 GH19I019516 19514392 19514541 0.38 [{'connected_gene': 'TSSK6', 'score': 550.77}, {'connected_gene': 'ENSG00000258674', 'score': 550.77}, {'connected_gene': 'NDUFA13', 'score': 550.77}, {'connected_gene': 'PIR50534', 'score': 550.77}, {'connected_gene': 'GC19M019509', 'score': 0.77}]
chr19 GH19I019517 19514852 19514968 0.43 [{'connected_gene': 'TSSK6', 'score': 550.77}, {'connected_gene': 'ENSG00000258674', 'score': 550.77}, {'connected_gene': 'NDUFA13', 'score': 550.77}, {'connected_gene': 'PIR50534', 'score': 550.77}, {'connected_gene': 'GC19M019509', 'score': 0.44}]
chr19 GH19I020000 20000154 20000283 0.22 [{'connected_gene': 'TSSK6', 'score': 18.23}, {'connected_gene': 'GC19M022318', 'score': 0.44}, {'connected_gene': 'VN1R77P', 'score': 0.34}, {'connected_gene': 'ZNF682', 'score': 0.28}, {'connected_gene': 'BNIP3P12', 'score': 0.22}]
chr19 GH19I019512 19512989 19513392 0.28 [{'connected_gene': 'TSSK6', 'score': 0.77}, {'connected_gene': 'GC19M019509', 'score': 0.77}]
chr19 GH19I018587 18587628 18591251 2.32 [{'connected_gene': 'REX1BD', 'score': 563.01}, {'connected_gene': 'ENSG00000268030', 'score': 85.21}, {'connected_gene': 'UPF1', 'score': 78.17}, {'connected_gene': 'ENSG00000268938', 'score': 65.19}, {'connected_gene': 'NR2C2AP', 'score': 64.28}, {'connected_gene': 'ENSG00000269191', 'score': 56.38}, {'connected_gene': 'MAU2', 'score': 53.44}, {'connected_gene': 'IQCN', 'score': 52.41}, {'connected_gene': 'MEF2B', 'score': 37.12}, {'connected_gene': 'ELL', 'score': 28.89}, {'connected_gene': 'KXD1', 'score': 24.04}, {'connected_gene': 'UBA52', 'score': 21.91}, {'connected_gene': 'RPL18A', 'score': 19.97}, {'connected_gene': 'SUGP2', 'score': 18.87}, {'connected_gene': 'TMEM161A', 'score': 11.94}, {'connected_gene': 'TSSK6', 'score': 11.43}, {'connected_gene': 'RFXANK', 'score': 10.0}, {'connected_gene': 'SUGP1', 'score': 9.9}, {'connected_gene': 'GATAD2A', 'score': 9.86}, {'connected_gene': 'CRLF1', 'score': 8.19}, {'connected_gene': 'TMEM59L', 'score': 0.37}]
chr19 GH19I019515 19515451 19517412 2.04 [{'connected_gene': 'NDUFA13', 'score': 586.7}, {'connected_gene': 'TSSK6', 'score': 550.77}, {'connected_gene': 'ENSG00000258674', 'score': 550.77}, {'connected_gene': 'PIR50534', 'score': 550.77}, {'connected_gene': 'GATAD2A', 'score': 8.01}, {'connected_gene': 'YJEFN3', 'score': 0.39}]
chr19 GH19I018657 18657160 18661749 1.54 [{'connected_gene': 'MAU2', 'score': 22.63}, {'connected_gene': 'IQCN', 'score': 22.61}, {'connected_gene': 'ENSG00000268030', 'score': 22.19}, {'connected_gene': 'UPF1', 'score': 21.58}, {'connected_gene': 'SUGP2', 'score': 18.88}, {'connected_gene': 'CRTC1', 'score': 15.71}, {'connected_gene': 'TSSK6', 'score': 11.43}, {'connected_gene': 'ENSG00000268938', 'score': 10.63}, {'connected_gene': 'UNC13A', 'score': 10.54}, {'connected_gene': 'TMEM59L', 'score': 10.46}, {'connected_gene': 'NR2C2AP', 'score': 10.46}, {'connected_gene': 'ENSG00000269191', 'score': 10.03}, {'connected_gene': 'SUGP1', 'score': 9.9}, {'connected_gene': 'IFI30', 'score': 5.55}, {'connected_gene': 'CRLF1', 'score': 4.81}, {'connected_gene': 'KLHL26', 'score': 0.34}]
chr19 GH19I019755 19755288 19755676 0.25 [{'connected_gene': 'PIR51651', 'score': 550.77}, {'connected_gene': 'PIR48972', 'score': 550.77}, {'connected_gene': 'GC19M022302', 'score': 550.77}, {'connected_gene': 'PIR51069', 'score': 550.77}, {'connected_gene': 'GC19M022204', 'score': 550.77}, {'connected_gene': 'TSSK6', 'score': 5.86}, {'connected_gene': 'PIR31947', 'score': 0.77}, {'connected_gene': 'GC19M022270', 'score': 0.77}, {'connected_gene': 'PIRC98', 'score': 0.29}]