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
ENST00000541084 [[113760104, 113760219], [113768160, 113768274], [113769973, 113770114], [113771079, 113771189], [113771786, 113771910], [113772726, 113773430]] [[113760110, 113760219], [113768160, 113768274], [113769973, 113770114], [113771079, 113771189], [113771786, 113771910], [113772726, 113773322]]
ENST00000346342 [[113760104, 113760219], [113765003, 113765164], [113768065, 113768090], [113768160, 113768274], [113769973, 113770114], [113771079, 113771189], [113771786, 113771910], [113772726, 113774345]] [[113760155, 113760219], [113765003, 113765164], [113768065, 113768090], [113768160, 113768274], [113769973, 113770114], [113771079, 113771189], [113771786, 113771910], [113772726, 113773322]]
ENST00000375581 [[113760120, 113760219], [113761158, 113761224], [113765003, 113765164], [113768065, 113768090], [113768160, 113768274], [113769973, 113770114], [113771079, 113771189], [113771786, 113771910], [113772726, 113774995]] [[113760155, 113760219], [113761158, 113761224], [113765003, 113765164], [113768065, 113768090], [113768160, 113768274], [113769973, 113770114], [113771079, 113771189], [113771786, 113771910], [113772726, 113773322]]
ENST00000444337 [[113760152, 113760219], [113765017, 113765164], [113768088, 113768274], [113769973, 113770114], [113771079, 113771102]] [[113760155, 113760219], [113765017, 113765164], [113768088, 113768102]]
ENST00000479674 [[113764653, 113765164], [113768088, 113768274], [113771079, 113771149]] None
ENST00000473085 [[113764992, 113765164], [113768065, 113768090], [113768160, 113768274], [113768877, 113769098], [113769191, 113769217]] None
NM_001267554 [[113760101, 113760219], [113768160, 113768274], [113769973, 113770114], [113771079, 113771189], [113771786, 113771910], [113772726, 113774995]] [[113760155, 113760219], [113768160, 113768274], [113769973, 113770114], [113771079, 113771189], [113771786, 113771910], [113772726, 113773322]]
NR_051961 [[113760101, 113760219], [113765017, 113765164], [113768088, 113768274], [113769973, 113770114], [113771079, 113771189], [113771786, 113771910], [113772726, 113774995]] None
NM_019616 [[113760101, 113760219], [113765003, 113765164], [113768065, 113768090], [113768160, 113768274], [113769973, 113770114], [113771079, 113771189], [113771786, 113771910], [113772726, 113774995]] [[113760155, 113760219], [113765003, 113765164], [113768065, 113768090], [113768160, 113768274], [113769973, 113770114], [113771079, 113771189], [113771786, 113771910], [113772726, 113773322]]
NM_000131 [[113760101, 113760219], [113761158, 113761224], [113765003, 113765164], [113768065, 113768090], [113768160, 113768274], [113769973, 113770114], [113771079, 113771189], [113771786, 113771910], [113772726, 113774995]] [[113760155, 113760219], [113761158, 113761224], [113765003, 113765164], [113768065, 113768090], [113768160, 113768274], [113769973, 113770114], [113771079, 113771189], [113771786, 113771910], [113772726, 113773322]]
Promoter
Chrom Start End Description
chr13 113760098 113760110 CAGE_peak_1_at_F7_5end
chr13 113760134 113760150 CAGE_peak_2_at_F7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I113182 113182982 113189499 1.4 [{'connected_gene': 'PROZ', 'score': 26.95}, {'connected_gene': 'PCID2', 'score': 11.9}, {'connected_gene': 'CUL4A', 'score': 11.9}, {'connected_gene': 'F10-AS1', 'score': 11.03}, {'connected_gene': 'KARSP2', 'score': 11.03}, {'connected_gene': 'F10', 'score': 11.02}, {'connected_gene': 'GRTP1', 'score': 10.68}, {'connected_gene': 'F7', 'score': 10.66}, {'connected_gene': 'LAMP1', 'score': 10.6}, {'connected_gene': 'ENSG00000269356', 'score': 6.33}, {'connected_gene': 'ENSG00000269125', 'score': 0.34}, {'connected_gene': 'GC13M113076', 'score': 0.06}]
chr13 GH13I113175 113175643 113181301 0.97 [{'connected_gene': 'PROZ', 'score': 27.49}, {'connected_gene': 'PCID2', 'score': 21.55}, {'connected_gene': 'CUL4A', 'score': 11.49}, {'connected_gene': 'F10-AS1', 'score': 11.2}, {'connected_gene': 'KARSP2', 'score': 11.2}, {'connected_gene': 'F10', 'score': 11.18}, {'connected_gene': 'F7', 'score': 10.69}, {'connected_gene': 'GRTP1', 'score': 10.67}, {'connected_gene': 'GRTP1-AS1', 'score': 10.56}, {'connected_gene': 'ENSG00000269356', 'score': 6.29}, {'connected_gene': 'ENSG00000269125', 'score': 0.39}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113121 113121907 113123910 1.61 [{'connected_gene': 'F10', 'score': 558.61}, {'connected_gene': 'F7', 'score': 6.0}, {'connected_gene': 'F10-AS1', 'score': 0.44}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113489 113489103 113496555 2.58 [{'connected_gene': 'TMCO3', 'score': 584.44}, {'connected_gene': 'DCUN1D2', 'score': 556.21}, {'connected_gene': 'TUBGCP3', 'score': 19.83}, {'connected_gene': 'PCID2', 'score': 14.74}, {'connected_gene': 'GRTP1', 'score': 13.18}, {'connected_gene': 'CDC16', 'score': 12.15}, {'connected_gene': 'DCUN1D2-AS', 'score': 11.64}, {'connected_gene': 'ADPRHL1', 'score': 11.09}, {'connected_gene': 'CHAMP1', 'score': 10.19}, {'connected_gene': 'GRTP1-AS1', 'score': 9.92}, {'connected_gene': 'F7', 'score': 6.31}, {'connected_gene': 'F10', 'score': 3.88}, {'connected_gene': 'PROZ', 'score': 2.93}, {'connected_gene': 'ENSG00000276916', 'score': 0.37}, {'connected_gene': 'GC13M113076', 'score': 0.31}]
chr13 GH13I113083 113083067 113084530 0.91 [{'connected_gene': 'MCF2L', 'score': 27.14}, {'connected_gene': 'F7', 'score': 13.58}, {'connected_gene': 'PROZ', 'score': 10.99}, {'connected_gene': 'MCF2L-AS1', 'score': 10.7}, {'connected_gene': 'GC13M113086', 'score': 0.77}, {'connected_gene': 'GC13M113087', 'score': 0.77}, {'connected_gene': 'PIR52168', 'score': 0.44}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113021 113021729 113024188 1.31 [{'connected_gene': 'MCF2L', 'score': 19.22}, {'connected_gene': 'MCF2L-AS1', 'score': 11.4}, {'connected_gene': 'F7', 'score': 11.07}, {'connected_gene': 'PROZ', 'score': 10.37}, {'connected_gene': 'F10', 'score': 10.37}, {'connected_gene': 'F10-AS1', 'score': 10.36}, {'connected_gene': 'KARSP2', 'score': 10.36}, {'connected_gene': 'ENSG00000269376', 'score': 0.39}, {'connected_gene': 'PIR52168', 'score': 0.23}]
chr13 GH13I113101 113101444 113103508 0.52 [{'connected_gene': 'F7', 'score': 11.23}, {'connected_gene': 'F10', 'score': 6.42}, {'connected_gene': 'MCF2L', 'score': 5.82}, {'connected_gene': 'GC13P113090', 'score': 0.39}, {'connected_gene': 'GC13P113091', 'score': 0.39}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113078 113078539 113079413 0.51 [{'connected_gene': 'F7', 'score': 17.29}, {'connected_gene': 'F10', 'score': 10.89}, {'connected_gene': 'F10-AS1', 'score': 10.86}, {'connected_gene': 'KARSP2', 'score': 10.86}, {'connected_gene': 'PROZ', 'score': 10.7}, {'connected_gene': 'PIR52168', 'score': 0.77}, {'connected_gene': 'GC13M113086', 'score': 0.44}, {'connected_gene': 'GC13M113087', 'score': 0.44}, {'connected_gene': 'MCF2L', 'score': 0.09}, {'connected_gene': 'GC13M113076', 'score': 0.04}]
chr13 GH13I113105 113105167 113106302 1.41 [{'connected_gene': 'F7', 'score': 561.35}, {'connected_gene': 'MCF2L', 'score': 6.33}, {'connected_gene': 'F10', 'score': 6.02}, {'connected_gene': 'GC13P113090', 'score': 0.37}, {'connected_gene': 'GC13P113091', 'score': 0.37}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113108 113108572 113111696 0.52 [{'connected_gene': 'F7', 'score': 10.61}, {'connected_gene': 'MCF2L', 'score': 6.03}, {'connected_gene': 'F10', 'score': 0.39}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113097 113097707 113099301 0.38 [{'connected_gene': 'F7', 'score': 10.65}, {'connected_gene': 'MCF2L', 'score': 5.71}, {'connected_gene': 'GC13P113090', 'score': 0.44}, {'connected_gene': 'GC13P113091', 'score': 0.44}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113138 113138919 113139729 0.95 [{'connected_gene': 'F7', 'score': 11.5}, {'connected_gene': 'GRTP1-AS1', 'score': 10.33}, {'connected_gene': 'GRTP1', 'score': 10.33}, {'connected_gene': 'F10', 'score': 7.25}, {'connected_gene': 'KARSP2', 'score': 0.44}, {'connected_gene': 'LOC102724474', 'score': 0.39}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113137 113137604 113138496 0.43 [{'connected_gene': 'F7', 'score': 11.5}, {'connected_gene': 'GRTP1-AS1', 'score': 10.33}, {'connected_gene': 'GRTP1', 'score': 10.33}, {'connected_gene': 'KARSP2', 'score': 0.44}, {'connected_gene': 'F10', 'score': 0.37}, {'connected_gene': 'LOC102724474', 'score': 0.37}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113327 113327086 113328359 0.54 [{'connected_gene': 'GRTP1-AS1', 'score': 13.19}, {'connected_gene': 'GRTP1', 'score': 13.12}, {'connected_gene': 'LAMP1', 'score': 11.82}, {'connected_gene': 'F7', 'score': 10.3}, {'connected_gene': 'DCUN1D2', 'score': 10.04}, {'connected_gene': 'DCUN1D2-AS', 'score': 9.82}, {'connected_gene': 'GC13P113323', 'score': 0.44}, {'connected_gene': 'PIR60275', 'score': 0.44}, {'connected_gene': 'ENSG00000276434', 'score': 0.39}, {'connected_gene': 'GC13M113076', 'score': 0.08}]
chr13 GH13I113072 113072700 113076224 0.31 [{'connected_gene': 'PIR52168', 'score': 550.77}, {'connected_gene': 'MCF2L', 'score': 18.09}, {'connected_gene': 'F7', 'score': 12.46}, {'connected_gene': 'F10', 'score': 11.65}, {'connected_gene': 'F10-AS1', 'score': 11.63}, {'connected_gene': 'KARSP2', 'score': 11.63}, {'connected_gene': 'PROZ', 'score': 10.69}, {'connected_gene': 'MCF2L-AS1', 'score': 10.37}, {'connected_gene': 'ENSG00000269376', 'score': 0.21}]
chr13 GH13I113092 113092037 113095058 0.31 [{'connected_gene': 'GC13P113090', 'score': 0.77}, {'connected_gene': 'GC13P113091', 'score': 0.77}, {'connected_gene': 'F7', 'score': 0.39}, {'connected_gene': 'MCF2L', 'score': 0.08}, {'connected_gene': 'GC13M113076', 'score': 0.04}]
chr13 GH13I113090 113090447 113090616 0.43 [{'connected_gene': 'GC13P113090', 'score': 550.77}, {'connected_gene': 'GC13P113091', 'score': 550.77}, {'connected_gene': 'F7', 'score': 0.37}, {'connected_gene': 'MCF2L', 'score': 0.08}, {'connected_gene': 'GC13M113076', 'score': 0.04}]