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
ENST00000282469 [[35617945, 35618157], [35628561, 35628664], [35641532, 35641785], [35644456, 35644627], [35646768, 35646909], [35649462, 35649527], [35654641, 35654828], [35659120, 35659309], [35667173, 35667361], [35670160, 35671677]] [[35618099, 35618157], [35628561, 35628664], [35641532, 35641785], [35644456, 35644627], [35646768, 35646909], [35649462, 35649527], [35654641, 35654828], [35659120, 35659309], [35667173, 35667361], [35670160, 35670350]]
ENST00000509059 [[35617945, 35618157], [35628561, 35628664], [35641532, 35641785], [35644456, 35644627], [35646768, 35646909], [35649462, 35649527], [35654641, 35654828], [35659120, 35659309], [35667173, 35667361], [35670160, 35670329], [35691138, 35691358], [35692671, 35692826], [35694389, 35694450], [35695836, 35695898], [35697791, 35697895], [35700597, 35700854], [35704655, 35704764], [35705752, 35705910], [35709049, 35710952]] [[35618099, 35618157], [35628561, 35628664], [35641532, 35641785], [35644456, 35644627], [35646768, 35646909], [35649462, 35649527], [35654641, 35654828], [35659120, 35659309], [35667173, 35667361], [35670160, 35670329], [35691138, 35691358], [35692671, 35692826], [35694389, 35694450], [35695836, 35695898], [35697791, 35697895], [35700597, 35700854], [35704655, 35704764], [35705752, 35705910], [35709049, 35709231]]
ENST00000356031 [[35617945, 35618157], [35628561, 35628664], [35641532, 35641785], [35644456, 35644627], [35646768, 35646909], [35649462, 35649527], [35654641, 35654828], [35659120, 35659309], [35667173, 35667361], [35670160, 35670329], [35691138, 35691358], [35692671, 35692826], [35694389, 35694465], [35695836, 35695898], [35697791, 35697895], [35700597, 35700854], [35704655, 35704764], [35705752, 35705910], [35709049, 35709223], [35712913, 35712988], [35727776, 35727925], [35740020, 35740148], [35740230, 35740369], [35753725, 35753863], [35759669, 35759821], [35763623, 35763804], [35771710, 35771858], [35773994, 35774123], [35776358, 35776497], [35779218, 35779448], [35792441, 35792548], [35793260, 35793443], [35795804, 35795897], [35800069, 35800249], [35806808, 35807054], [35807232, 35807355], [35814565, 35814713]] [[35618099, 35618157], [35628561, 35628664], [35641532, 35641785], [35644456, 35644627], [35646768, 35646909], [35649462, 35649527], [35654641, 35654828], [35659120, 35659309], [35667173, 35667361], [35670160, 35670329], [35691138, 35691358], [35692671, 35692826], [35694389, 35694465], [35695836, 35695898], [35697791, 35697895], [35700597, 35700854], [35704655, 35704764], [35705752, 35705910], [35709049, 35709223], [35712913, 35712988], [35727776, 35727925], [35740020, 35740148], [35740230, 35740369], [35753725, 35753863], [35759669, 35759821], [35763623, 35763804], [35771710, 35771858], [35773994, 35774123], [35776358, 35776497], [35779218, 35779448], [35792441, 35792548], [35793260, 35793443], [35795804, 35795897], [35800069, 35800249], [35806808, 35807054], [35807232, 35807355], [35814565, 35814655]]
ENST00000510777 [[35618021, 35618157], [35628561, 35628664], [35641532, 35641785], [35646768, 35646909], [35649462, 35649527], [35654641, 35654743]] [[35618099, 35618157], [35628561, 35628664], [35641532, 35641785], [35646768, 35646909], [35649462, 35649527], [35654641, 35654743]]
ENST00000440995 [[35618099, 35618157], [35628561, 35628664], [35641532, 35641785], [35644456, 35644627], [35646768, 35646909], [35649462, 35649527], [35654641, 35654828], [35659120, 35659309], [35667173, 35667361], [35670160, 35670329], [35691138, 35691358], [35692671, 35692826], [35694389, 35694450], [35695836, 35695898], [35697791, 35697895], [35700597, 35700854], [35704655, 35704764], [35705752, 35705910], [35709049, 35709223], [35712913, 35712988], [35727776, 35727925], [35740020, 35740148], [35740230, 35740369], [35753725, 35753863], [35759669, 35759821], [35763623, 35763804], [35771710, 35771858], [35773994, 35774123], [35776358, 35776497], [35779218, 35779448], [35792441, 35792548], [35793260, 35793443], [35795804, 35795897], [35800069, 35800249], [35806808, 35807054], [35807232, 35807355], [35807740, 35808340]] [[35618099, 35618157], [35628561, 35628664], [35641532, 35641785], [35644456, 35644627], [35646768, 35646909], [35649462, 35649527], [35654641, 35654828], [35659120, 35659309], [35667173, 35667361], [35670160, 35670329], [35691138, 35691358], [35692671, 35692826], [35694389, 35694450], [35695836, 35695898], [35697791, 35697895], [35700597, 35700854], [35704655, 35704764], [35705752, 35705910], [35709049, 35709223], [35712913, 35712988], [35727776, 35727925], [35740020, 35740148], [35740230, 35740369], [35753725, 35753863], [35759669, 35759821], [35763623, 35763804], [35771710, 35771858], [35773994, 35774123], [35776358, 35776497], [35779218, 35779448], [35792441, 35792548], [35793260, 35793443], [35795804, 35795897], [35800069, 35800249], [35806808, 35807054], [35807232, 35807355], [35807740, 35807833]]
ENST00000502454 [[35646632, 35646909], [35649462, 35649527], [35654641, 35654761]] None
ENST00000506526 [[35774093, 35774123], [35776358, 35776497], [35779218, 35779448], [35788202, 35789133], [35789259, 35789477], [35789598, 35789807], [35789902, 35790026], [35790126, 35790311], [35792441, 35792548], [35793260, 35793443], [35795804, 35795897], [35800069, 35800249], [35806808, 35807054], [35807232, 35807355], [35814565, 35814713]] [[35774093, 35774123], [35776358, 35776497], [35779218, 35779448], [35788202, 35788258]]
ENST00000303129 [[35779269, 35779448], [35788986, 35789133], [35789259, 35789477], [35789598, 35789807], [35789902, 35790026], [35790126, 35790311], [35792441, 35792548], [35793260, 35793443], [35795804, 35795897], [35800069, 35800249], [35806808, 35807054], [35807232, 35807355], [35814565, 35814712]] [[35789031, 35789133], [35789259, 35789477], [35789598, 35789807], [35789902, 35790026], [35790126, 35790311], [35792441, 35792548], [35793260, 35793443], [35795804, 35795897], [35800069, 35800249], [35806808, 35807054], [35807232, 35807355], [35814565, 35814655]]
ENST00000513078 [[35779269, 35779448], [35788986, 35789133], [35789259, 35789477], [35789598, 35789807], [35789902, 35790026], [35790126, 35790311], [35792441, 35792548], [35793260, 35793443], [35795804, 35795897], [35800069, 35800249], [35806808, 35807054], [35807232, 35807355], [35814565, 35814713]] [[35779269, 35779448], [35788986, 35789133], [35789259, 35789279]]
ENST00000505847 [[35617990, 35618157], [35628561, 35628664], [35641532, 35641785], [35643606, 35643754]] [[35618099, 35618157], [35628561, 35628664], [35641532, 35641785], [35643606, 35643630]]
ENST00000505088 [[35618002, 35618157], [35628561, 35628664], [35641532, 35641857]] None
ENST00000503074 [[35659151, 35659309], [35667173, 35667361], [35670160, 35670329], [35691138, 35691358], [35692671, 35692826], [35694389, 35694450], [35695836, 35695898], [35697791, 35700854], [35704655, 35704764], [35705752, 35705910], [35709049, 35710952]] None
ENST00000504054 [[35675703, 35676094], [35691138, 35691358], [35692671, 35692826], [35694389, 35694450], [35695836, 35695898], [35697791, 35697895], [35700597, 35700854], [35704655, 35704764], [35705752, 35705893]] [[35676037, 35676094], [35691138, 35691358], [35692671, 35692826], [35694389, 35694450], [35695836, 35695898], [35697791, 35697895], [35700597, 35700854], [35704655, 35704764], [35705752, 35705893]]
ENST00000508817 [[35700724, 35700854], [35702254, 35702421], [35704655, 35704764], [35705752, 35705893]] [[35700724, 35700854], [35702254, 35702421], [35704655, 35704706]]
ENST00000506759 [[35763669, 35763804], [35764643, 35764889]] [[35763669, 35763804], [35764643, 35764871]]
NM_144722 [[35617988, 35618157], [35628561, 35628664], [35641532, 35641785], [35644456, 35644627], [35646768, 35646909], [35649462, 35649527], [35654641, 35654828], [35659120, 35659309], [35667173, 35667361], [35670160, 35671676]] [[35618099, 35618157], [35628561, 35628664], [35641532, 35641785], [35644456, 35644627], [35646768, 35646909], [35649462, 35649527], [35654641, 35654828], [35659120, 35659309], [35667173, 35667361], [35670160, 35670350]]
NM_024867 [[35617988, 35618157], [35628561, 35628664], [35641532, 35641785], [35644456, 35644627], [35646768, 35646909], [35649462, 35649527], [35654641, 35654828], [35659120, 35659309], [35667173, 35667361], [35670160, 35670329], [35691138, 35691358], [35692671, 35692826], [35694389, 35694465], [35695836, 35695898], [35697791, 35697895], [35700597, 35700854], [35704655, 35704764], [35705752, 35705910], [35709049, 35709223], [35712913, 35712988], [35727776, 35727925], [35740020, 35740148], [35740230, 35740369], [35753725, 35753863], [35759669, 35759821], [35763623, 35763804], [35771710, 35771858], [35773994, 35774123], [35776358, 35776497], [35779218, 35779448], [35792441, 35792548], [35793260, 35793443], [35795804, 35795897], [35800069, 35800249], [35806808, 35807054], [35807232, 35807355], [35814565, 35814713]] [[35618099, 35618157], [35628561, 35628664], [35641532, 35641785], [35644456, 35644627], [35646768, 35646909], [35649462, 35649527], [35654641, 35654828], [35659120, 35659309], [35667173, 35667361], [35670160, 35670329], [35691138, 35691358], [35692671, 35692826], [35694389, 35694465], [35695836, 35695898], [35697791, 35697895], [35700597, 35700854], [35704655, 35704764], [35705752, 35705910], [35709049, 35709223], [35712913, 35712988], [35727776, 35727925], [35740020, 35740148], [35740230, 35740369], [35753725, 35753863], [35759669, 35759821], [35763623, 35763804], [35771710, 35771858], [35773994, 35774123], [35776358, 35776497], [35779218, 35779448], [35792441, 35792548], [35793260, 35793443], [35795804, 35795897], [35800069, 35800249], [35806808, 35807054], [35807232, 35807355], [35814565, 35814655]]
Promoter
Chrom Start End Description
chr5 35617940 35618050 CAGE_peak_1_at_SPEF2_5end
chr5 35618058 35618078 CAGE_peak_2_at_SPEF2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I035616 35616899 35619051 2.04 [{'connected_gene': 'SPEF2', 'score': 564.81}, {'connected_gene': 'BRIX1', 'score': 53.88}, {'connected_gene': 'NADK2-AS1', 'score': 10.55}, {'connected_gene': 'RAI14', 'score': 10.05}, {'connected_gene': 'RNU7-130P', 'score': 0.37}, {'connected_gene': 'GC05P035369', 'score': 0.07}]
chr5 GH05I035651 35651299 35651448 0.54 [{'connected_gene': 'SPEF2', 'score': 8.85}, {'connected_gene': 'RNU7-130P', 'score': 0.37}, {'connected_gene': 'LOC105374724', 'score': 0.1}]
chr5 GH05I035670 35670394 35672214 0.2 [{'connected_gene': 'SPEF2', 'score': 15.25}, {'connected_gene': 'RNU7-130P', 'score': 0.28}, {'connected_gene': 'LOC105374724', 'score': 0.1}]
chr5 GH05I035773 35773561 35774719 0.59 [{'connected_gene': 'SPEF2', 'score': 7.04}, {'connected_gene': 'LOC105374724', 'score': 0.23}, {'connected_gene': 'RNU7-130P', 'score': 0.11}]
chr5 GH05I035788 35788748 35791740 0.38 [{'connected_gene': 'SPEF2', 'score': 6.46}, {'connected_gene': 'LOC105374724', 'score': 0.28}, {'connected_gene': 'RNU7-130P', 'score': 0.1}]
chr5 GH05I035770 35770453 35772650 0.64 [{'connected_gene': 'SPEF2', 'score': 6.13}, {'connected_gene': 'LOC105374724', 'score': 0.22}, {'connected_gene': 'RNU7-130P', 'score': 0.12}]
chr5 GH05I035664 35664801 35665000 0.38 [{'connected_gene': 'SPEF2', 'score': 11.02}, {'connected_gene': 'LOC105374724', 'score': 9.76}, {'connected_gene': 'RNU7-130P', 'score': 0.29}]
chr5 GH05I035478 35478739 35480224 0.82 [{'connected_gene': 'SPEF2', 'score': 10.68}, {'connected_gene': 'GC05P035429', 'score': 0.23}, {'connected_gene': 'GC05P035369', 'score': 0.14}]
chr5 GH05I035482 35482407 35485459 1.03 [{'connected_gene': 'SPEF2', 'score': 10.68}, {'connected_gene': 'GC05P035429', 'score': 0.23}, {'connected_gene': 'GC05P035369', 'score': 0.14}]
chr5 GH05I035777 35777600 35778001 1.2 [{'connected_gene': 'BRIX1', 'score': 23.07}, {'connected_gene': 'LOC105374724', 'score': 11.08}, {'connected_gene': 'CAPSL', 'score': 10.86}, {'connected_gene': 'LOC100506406', 'score': 10.86}, {'connected_gene': 'SKP2', 'score': 10.09}, {'connected_gene': 'RAD1', 'score': 9.94}, {'connected_gene': 'RNU7-130P', 'score': 0.11}, {'connected_gene': 'SPEF2', 'score': 0.1}]
chr5 GH05I035672 35672678 35674375 0.66 [{'connected_gene': 'IL7R', 'score': 27.3}, {'connected_gene': 'SPEF2', 'score': 13.07}, {'connected_gene': 'RNU7-130P', 'score': 0.26}, {'connected_gene': 'LOC105374724', 'score': 0.1}]
chr5 GH05I035796 35796599 35797969 1.12 [{'connected_gene': 'IL7R', 'score': 21.1}, {'connected_gene': 'SPEF2', 'score': 1.85}, {'connected_gene': 'LOC105374724', 'score': 0.31}, {'connected_gene': 'RNU7-130P', 'score': 0.1}]
chr5 GH05I035815 35815544 35817906 1.06 [{'connected_gene': 'IL7R', 'score': 10.66}, {'connected_gene': 'SPEF2', 'score': 1.25}, {'connected_gene': 'LOC105374724', 'score': 0.39}, {'connected_gene': 'RNU7-130P', 'score': 0.09}]
chr5 GH05I035809 35809706 35812484 1.08 [{'connected_gene': 'IL7R', 'score': 13.33}, {'connected_gene': 'SPEF2', 'score': 5.81}, {'connected_gene': 'LOC105374724', 'score': 0.37}, {'connected_gene': 'RNU7-130P', 'score': 0.1}]
chr5 GH05I035851 35851787 35860395 2.55 [{'connected_gene': 'IL7R', 'score': 587.22}, {'connected_gene': 'LOC105374724', 'score': 11.74}, {'connected_gene': 'CAPSL', 'score': 10.1}, {'connected_gene': 'LOC100506406', 'score': 10.1}, {'connected_gene': 'RNU7-130P', 'score': 9.56}, {'connected_gene': 'LMBRD2', 'score': 6.04}, {'connected_gene': 'SPEF2', 'score': 1.86}, {'connected_gene': 'ENSG00000279737', 'score': 0.28}]
chr5 GH05I036441 36441677 36445476 1.34 [{'connected_gene': 'NIPBL', 'score': 17.84}, {'connected_gene': 'SLC1A3', 'score': 15.82}, {'connected_gene': 'OFD1P17', 'score': 12.88}, {'connected_gene': 'WDR70', 'score': 11.94}, {'connected_gene': 'SPEF2', 'score': 10.8}, {'connected_gene': 'NUP155', 'score': 10.16}, {'connected_gene': 'RNA5SP181', 'score': 0.26}, {'connected_gene': 'LOC105374725', 'score': 0.13}]
chr5 GH05I035761 35761125 35762082 0.2 [{'connected_gene': 'CAPSL', 'score': 10.54}, {'connected_gene': 'LOC100506406', 'score': 10.54}, {'connected_gene': 'SPEF2', 'score': 7.04}, {'connected_gene': 'LOC105374724', 'score': 0.2}, {'connected_gene': 'RNU7-130P', 'score': 0.13}]
chr5 GH05I035832 35832353 35834688 0.2 [{'connected_gene': 'CAPSL', 'score': 10.07}, {'connected_gene': 'LOC100506406', 'score': 10.07}, {'connected_gene': 'RNU7-130P', 'score': 9.36}, {'connected_gene': 'SPEF2', 'score': 6.75}, {'connected_gene': 'LOC105374724', 'score': 0.44}, {'connected_gene': 'IL7R', 'score': 0.37}]
chr5 GH05I035742 35742039 35742188 0.2 [{'connected_gene': 'RNU7-130P', 'score': 10.69}, {'connected_gene': 'SPEF2', 'score': 6.1}, {'connected_gene': 'LOC105374724', 'score': 0.18}]
chr5 GH05I035741 35741102 35742006 0.83 [{'connected_gene': 'RNU7-130P', 'score': 10.69}, {'connected_gene': 'SPEF2', 'score': 5.46}, {'connected_gene': 'LOC105374724', 'score': 0.17}]
chr5 GH05I035793 35793998 35795284 0.4 [{'connected_gene': 'LOC105374724', 'score': 11.13}, {'connected_gene': 'SPEF2', 'score': 6.3}, {'connected_gene': 'RNU7-130P', 'score': 0.1}]
chr5 GH05I035795 35795646 35796409 0.2 [{'connected_gene': 'LOC105374724', 'score': 12.06}, {'connected_gene': 'SPEF2', 'score': 5.84}, {'connected_gene': 'RNU7-130P', 'score': 0.1}]
chr5 GH05I035802 35802779 35803600 0.89 [{'connected_gene': 'LOC105374724', 'score': 11.29}, {'connected_gene': 'SPEF2', 'score': 5.22}, {'connected_gene': 'RNU7-130P', 'score': 0.09}]
chr5 GH05I035824 35824808 35829304 0.46 [{'connected_gene': 'LOC105374724', 'score': 550.77}, {'connected_gene': 'IL7R', 'score': 15.93}, {'connected_gene': 'RNU7-130P', 'score': 9.66}, {'connected_gene': 'CAPSL', 'score': 9.42}, {'connected_gene': 'LOC100506406', 'score': 9.42}, {'connected_gene': 'SPEF2', 'score': 6.91}]
chr5 GH05I035779 35779390 35781674 0.71 [{'connected_gene': 'LOC105374724', 'score': 11.08}, {'connected_gene': 'CAPSL', 'score': 10.87}, {'connected_gene': 'LOC100506406', 'score': 10.87}, {'connected_gene': 'SPEF2', 'score': 6.57}, {'connected_gene': 'RNU7-130P', 'score': 0.11}]
chr5 GH05I035784 35784495 35784803 0.34 [{'connected_gene': 'LOC105374724', 'score': 11.3}, {'connected_gene': 'CAPSL', 'score': 10.02}, {'connected_gene': 'LOC100506406', 'score': 10.02}, {'connected_gene': 'RNU7-130P', 'score': 0.1}, {'connected_gene': 'SPEF2', 'score': 0.1}]
chr5 GH05I035785 35785800 35786001 0.4 [{'connected_gene': 'LOC105374724', 'score': 11.3}, {'connected_gene': 'CAPSL', 'score': 10.02}, {'connected_gene': 'LOC100506406', 'score': 10.02}, {'connected_gene': 'RNU7-130P', 'score': 0.1}, {'connected_gene': 'SPEF2', 'score': 0.1}]
chr5 GH05I035431 35430479 35430628 0.31 [{'connected_gene': 'ENSG00000201368', 'score': 550.77}, {'connected_gene': 'GC05P035429', 'score': 550.77}, {'connected_gene': 'GC05P035369', 'score': 0.21}, {'connected_gene': 'SPEF2', 'score': 0.09}]
chr5 GH05I035457 35457866 35459349 0.65 [{'connected_gene': 'ENSG00000201368', 'score': 11.66}, {'connected_gene': 'GC05P035429', 'score': 0.31}, {'connected_gene': 'GC05P035369', 'score': 0.17}, {'connected_gene': 'SPEF2', 'score': 0.1}]
chr5 GH05I035356 35356561 35368384 0.59 [{'connected_gene': 'ENSG00000201368', 'score': 10.8}, {'connected_gene': 'PRLR', 'score': 5.19}, {'connected_gene': 'SPEF2', 'score': 4.9}, {'connected_gene': 'GC05P035369', 'score': 0.44}]
chr5 GH05I035430 35430668 35431125 0.43 [{'connected_gene': 'ENSG00000201368', 'score': 550.77}, {'connected_gene': 'GC05P035429', 'score': 550.77}, {'connected_gene': 'CAPSL', 'score': 4.89}, {'connected_gene': 'GC05P035369', 'score': 0.21}, {'connected_gene': 'SPEF2', 'score': 0.09}]