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
ENST00000311303 [[48116883, 48117712], [48117819, 48117984], [48119503, 48119617], [48120651, 48120730], [48121836, 48121996], [48122455, 48122645], [48125030, 48125120], [48130656, 48130813], [48134782, 48134920], [48138052, 48138279], [48139049, 48139247], [48141232, 48141336], [48142350, 48142440], [48145346, 48145418], [48145488, 48145573], [48145686, 48145821], [48149325, 48149529], [48151171, 48151244], [48155626, 48155751], [48158123, 48158195], [48162369, 48162648], [48164698, 48164806], [48167597, 48167746], [48172138, 48172286], [48173073, 48173247], [48174597, 48174827], [48175112, 48175264], [48177820, 48177976], [48180216, 48180681]] [[48117625, 48117712], [48117819, 48117984], [48119503, 48119617], [48120651, 48120730], [48121836, 48121996], [48122455, 48122645], [48125030, 48125120], [48130656, 48130813], [48134782, 48134920], [48138052, 48138279], [48139049, 48139247], [48141232, 48141336], [48142350, 48142440], [48145346, 48145418], [48145488, 48145573], [48145686, 48145821], [48149325, 48149529], [48151171, 48151244], [48155626, 48155751], [48158123, 48158195], [48162369, 48162648], [48164698, 48164806], [48167597, 48167746], [48172138, 48172286], [48173073, 48173247], [48174597, 48174827], [48175112, 48175264], [48177820, 48177976], [48180216, 48180335]]
ENST00000534418 [[48117257, 48117712], [48117819, 48117984], [48119503, 48119617], [48121836, 48121996], [48122455, 48122645], [48125030, 48125120], [48130656, 48130843], [48134782, 48134920], [48138052, 48138279], [48139049, 48139247], [48141232, 48141336], [48142350, 48142440], [48145488, 48145573], [48145686, 48145821], [48149325, 48149529], [48151171, 48151244], [48155626, 48155751], [48158123, 48158195], [48162369, 48162648], [48164698, 48164806], [48167597, 48167746], [48172138, 48172286], [48174597, 48174831], [48175116, 48175264], [48177820, 48177976], [48180216, 48180561]] [[48130842, 48130843], [48134782, 48134920], [48138052, 48138279], [48139049, 48139247], [48141232, 48141336], [48142350, 48142440], [48145488, 48145573], [48145686, 48145821], [48149325, 48149529], [48151171, 48151244], [48155626, 48155751], [48158123, 48158195], [48162369, 48162648], [48164698, 48164806], [48167597, 48167746], [48172138, 48172286], [48174597, 48174831], [48175116, 48175264], [48177820, 48177976], [48180216, 48180335]]
ENST00000529084 [[48117257, 48117712], [48117819, 48117984], [48119503, 48119617], [48121836, 48121996], [48122455, 48122645], [48125030, 48125120], [48130656, 48130843], [48134782, 48134920], [48138052, 48138279], [48139049, 48139247], [48141232, 48141336], [48142350, 48142440], [48145346, 48145418], [48145497, 48145573], [48145686, 48145821], [48149325, 48149529], [48155626, 48155751], [48158123, 48158195], [48162369, 48162648], [48164698, 48164806], [48167597, 48167746], [48172138, 48172286], [48173073, 48173247], [48174597, 48174831], [48175116, 48175264], [48177820, 48177976], [48180216, 48180385], [48187526, 48187795], [48189751, 48189929]] [[48149339, 48149529], [48155626, 48155751], [48158123, 48158195], [48162369, 48162648], [48164698, 48164806], [48167597, 48167746], [48172138, 48172286], [48173073, 48173247], [48174597, 48174831], [48175116, 48175264], [48177820, 48177976], [48180216, 48180335]]
ENST00000416054 [[48117606, 48117712], [48117819, 48117984], [48119503, 48119617], [48120651, 48120730], [48121836, 48121996], [48122455, 48122645], [48125030, 48125120], [48130656, 48130843], [48134782, 48134920], [48138052, 48138279], [48139049, 48139247], [48141232, 48141336], [48142350, 48142440], [48145346, 48145418], [48145497, 48145573], [48145686, 48145821], [48149325, 48149529], [48155626, 48155751], [48158123, 48158195], [48162369, 48162648], [48164698, 48164806], [48167597, 48167746], [48172138, 48172286], [48173073, 48173247], [48174597, 48174831], [48175116, 48175264], [48177820, 48177976], [48180216, 48180341]] [[48149339, 48149529], [48155626, 48155751], [48158123, 48158195], [48162369, 48162648], [48164698, 48164806], [48167597, 48167746], [48172138, 48172286], [48173073, 48173247], [48174597, 48174831], [48175116, 48175264], [48177820, 48177976], [48180216, 48180335]]
ENST00000529504 [[48117606, 48117712], [48117819, 48117984], [48119503, 48119617], [48120651, 48120730], [48121850, 48121996], [48122455, 48122645], [48125030, 48125120], [48130656, 48130843], [48134782, 48134920], [48139049, 48139247], [48141232, 48141336], [48142350, 48142440], [48145346, 48145418], [48145497, 48145573], [48145686, 48145821], [48149325, 48149529], [48151171, 48151244], [48155626, 48155751], [48158123, 48158195], [48162369, 48162648], [48164698, 48164806], [48167597, 48167746], [48172138, 48172286], [48173073, 48173247], [48174597, 48174831], [48175116, 48175264], [48177820, 48177976], [48180216, 48180341]] [[48130837, 48130843], [48134782, 48134920], [48139049, 48139247], [48141232, 48141336], [48142350, 48142440], [48145346, 48145418], [48145497, 48145573], [48145686, 48145821], [48149325, 48149529], [48151171, 48151244], [48155626, 48155751], [48158123, 48158195], [48162369, 48162648], [48164698, 48164806], [48167597, 48167746], [48172138, 48172286], [48173073, 48173247], [48174597, 48174831], [48175116, 48175264], [48177820, 48177976], [48180216, 48180335]]
ENST00000497206 [[48117606, 48117712], [48117819, 48117984], [48119503, 48119617], [48121836, 48121996], [48122455, 48122645], [48125030, 48125120], [48130656, 48130843], [48134782, 48134920], [48138052, 48138279], [48139049, 48139247], [48141232, 48141336], [48142350, 48142440], [48145346, 48145418], [48145497, 48145573], [48145686, 48145821], [48149325, 48149529], [48151171, 48151244], [48155626, 48155751], [48158123, 48158195], [48162369, 48162648], [48164698, 48164806], [48167597, 48167746], [48172138, 48172286], [48173073, 48173247], [48174597, 48174831], [48175116, 48175264], [48177820, 48177976], [48180216, 48180341]] [[48130842, 48130843], [48134782, 48134920], [48138052, 48138279], [48139049, 48139247], [48141232, 48141336], [48142350, 48142440], [48145346, 48145418], [48145497, 48145573], [48145686, 48145821], [48149325, 48149529], [48151171, 48151244], [48155626, 48155751], [48158123, 48158195], [48162369, 48162648], [48164698, 48164806], [48167597, 48167746], [48172138, 48172286], [48173073, 48173247], [48174597, 48174831], [48175116, 48175264], [48177820, 48177976], [48180216, 48180335]]
ENST00000448542 [[48117606, 48117712], [48117819, 48117984], [48119503, 48119617], [48120651, 48120730], [48121836, 48121996], [48122455, 48122645], [48125030, 48125120], [48130656, 48130843], [48134782, 48134920], [48139049, 48139247], [48141232, 48141336], [48142350, 48142440], [48145346, 48145418], [48145497, 48145573], [48145686, 48145821], [48149325, 48149529], [48151171, 48151244], [48155626, 48155751], [48158123, 48158195], [48162369, 48162648], [48164698, 48164806], [48167597, 48167746], [48172138, 48172286], [48173073, 48173247], [48174597, 48174831], [48175116, 48175264], [48177820, 48177976], [48180216, 48180341]] [[48130837, 48130843], [48134782, 48134920], [48139049, 48139247], [48141232, 48141336], [48142350, 48142440], [48145346, 48145418], [48145497, 48145573], [48145686, 48145821], [48149325, 48149529], [48151171, 48151244], [48155626, 48155751], [48158123, 48158195], [48162369, 48162648], [48164698, 48164806], [48167597, 48167746], [48172138, 48172286], [48173073, 48173247], [48174597, 48174831], [48175116, 48175264], [48177820, 48177976], [48180216, 48180335]]
ENST00000532494 [[48117606, 48117712], [48117819, 48117984], [48119503, 48119617], [48121850, 48121996], [48122455, 48122645], [48125030, 48125120], [48130656, 48130843], [48134782, 48134920], [48138052, 48138279], [48139049, 48139247], [48141232, 48141336], [48142350, 48142440], [48145346, 48145418], [48145497, 48145573], [48145686, 48145821], [48149325, 48149529], [48151171, 48151244], [48155626, 48155751], [48158123, 48158195], [48162369, 48162648], [48164698, 48164806], [48167597, 48167746], [48172138, 48172286], [48173073, 48173247], [48174597, 48174831], [48175116, 48175264], [48177820, 48177976], [48180216, 48180341]] [[48130842, 48130843], [48134782, 48134920], [48138052, 48138279], [48139049, 48139247], [48141232, 48141336], [48142350, 48142440], [48145346, 48145418], [48145497, 48145573], [48145686, 48145821], [48149325, 48149529], [48151171, 48151244], [48155626, 48155751], [48158123, 48158195], [48162369, 48162648], [48164698, 48164806], [48167597, 48167746], [48172138, 48172286], [48173073, 48173247], [48174597, 48174831], [48175116, 48175264], [48177820, 48177976], [48180216, 48180335]]
ENST00000532355 [[48117965, 48117984], [48119503, 48119617], [48120102, 48120551]] None
ENST00000526251 [[48121076, 48121996], [48122455, 48122645], [48125030, 48125149]] None
ENST00000533185 [[48145358, 48145573], [48145686, 48145821], [48149325, 48149344]] None
ENST00000528693 [[48155150, 48155751], [48158123, 48158195], [48162369, 48162648], [48164698, 48164806], [48167597, 48167746], [48172138, 48172286], [48173073, 48173247], [48174597, 48174831], [48175116, 48175264], [48177820, 48177976], [48180216, 48180385], [48189751, 48189904]] None
ENST00000533639 [[48167679, 48167746], [48172138, 48172286], [48173098, 48173247], [48174597, 48174831], [48175116, 48175264], [48177820, 48177976], [48180216, 48180385], [48189751, 48189904]] [[48172234, 48172286], [48173098, 48173247], [48174597, 48174831], [48175116, 48175264], [48177820, 48177976], [48180216, 48180335]]
ENST00000527640 [[48175221, 48175264], [48177820, 48177976], [48180216, 48180385], [48189728, 48189904]] [[48175221, 48175264], [48177820, 48177976], [48180216, 48180335]]
NM_033226 [[48116883, 48117712], [48117819, 48117984], [48119503, 48119617], [48120651, 48120730], [48121836, 48121996], [48122455, 48122645], [48125030, 48125120], [48130656, 48130813], [48134782, 48134920], [48138052, 48138279], [48139049, 48139247], [48141232, 48141336], [48142350, 48142440], [48145346, 48145418], [48145488, 48145573], [48145686, 48145821], [48149325, 48149529], [48151171, 48151244], [48155626, 48155751], [48158123, 48158195], [48162369, 48162648], [48164698, 48164806], [48167597, 48167746], [48172138, 48172286], [48173073, 48173247], [48174597, 48174827], [48175112, 48175264], [48177820, 48177976], [48180216, 48180681]] [[48117625, 48117712], [48117819, 48117984], [48119503, 48119617], [48120651, 48120730], [48121836, 48121996], [48122455, 48122645], [48125030, 48125120], [48130656, 48130813], [48134782, 48134920], [48138052, 48138279], [48139049, 48139247], [48141232, 48141336], [48142350, 48142440], [48145346, 48145418], [48145488, 48145573], [48145686, 48145821], [48149325, 48149529], [48151171, 48151244], [48155626, 48155751], [48158123, 48158195], [48162369, 48162648], [48164698, 48164806], [48167597, 48167746], [48172138, 48172286], [48173073, 48173247], [48174597, 48174827], [48175112, 48175264], [48177820, 48177976], [48180216, 48180335]]
Promoter
Chrom Start End Description
chr16 48125119 48125137 CAGE_peak_1_at_ABCC12_5end
chr16 48189898 48189909 CAGE_peak_4_at_ABCC12_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I048121 48121900 48124961 1.04 [{'connected_gene': 'ABCC12', 'score': 11.7}, {'connected_gene': 'LONP2', 'score': 5.68}, {'connected_gene': 'ENSG00000261017', 'score': 0.21}]
chr16 GH16I048156 48156601 48157175 0.98 [{'connected_gene': 'ABCC12', 'score': 550.77}, {'connected_gene': 'LONP2', 'score': 5.98}, {'connected_gene': 'ENSG00000261538', 'score': 0.39}]
chr16 GH16I048117 48117570 48117739 0.75 [{'connected_gene': 'ABCC12', 'score': 11.44}, {'connected_gene': 'NETO2', 'score': 10.8}, {'connected_gene': 'ENSG00000261017', 'score': 0.22}]
chr16 GH16I048125 48125450 48128582 0.9 [{'connected_gene': 'ABCC12', 'score': 0.31}, {'connected_gene': 'ENSG00000261017', 'score': 0.2}]
chr16 GH16I048158 48158410 48158579 0.77 [{'connected_gene': 'LONP2', 'score': 6.97}, {'connected_gene': 'ABCC12', 'score': 0.77}, {'connected_gene': 'ENSG00000261538', 'score': 0.44}]
chr16 GH16I048075 48075237 48077239 0.81 [{'connected_gene': 'ITFG1', 'score': 6.53}, {'connected_gene': 'ENSG00000261017', 'score': 0.37}, {'connected_gene': 'ABCC12', 'score': 0.18}]
chr16 GH16I048081 48081338 48082472 0.52 [{'connected_gene': 'ENSG00000261017', 'score': 0.34}, {'connected_gene': 'ABCC12', 'score': 0.19}]
chr16 GH16I048164 48164732 48166495 1.14 [{'connected_gene': 'ENSG00000261538', 'score': 550.77}, {'connected_gene': 'LONP2', 'score': 5.41}, {'connected_gene': 'ABCC12', 'score': 0.44}]