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
ENST00000554887 [[96967769, 96967926], [96986391, 96986565], [96987342, 96987409], [96991646, 96991728], [96993766, 96993833]] None
ENST00000216277 [[96968709, 96968937], [96986391, 96986565], [96987342, 96987409], [96991646, 96991728], [96993766, 96993876], [96994289, 96994343], [96997811, 96997923], [96998667, 96998757], [96998847, 96998986], [97000827, 97000900], [97002215, 97002336], [97003312, 97003397], [97008579, 97008633], [97009110, 97009230], [97010485, 97010595], [97014133, 97014255], [97018816, 97018959], [97022183, 97022284], [97022511, 97022750], [97026985, 97027048], [97029155, 97029230], [97031291, 97033448]] [[96968929, 96968937], [96986391, 96986565], [96987342, 96987409], [96991646, 96991728], [96993766, 96993876], [96994289, 96994343], [96997811, 96997923], [96998667, 96998757], [96998847, 96998986], [97000827, 97000900], [97002215, 97002336], [97003312, 97003397], [97008579, 97008633], [97009110, 97009230], [97010485, 97010595], [97014133, 97014255], [97018816, 97018959], [97022183, 97022284], [97022511, 97022750], [97026985, 97027048], [97029155, 97029230], [97031291, 97031387]]
ENST00000553357 [[96968718, 96968937], [96991646, 96991728], [96993766, 96993876], [96994289, 96994343], [96997811, 96997923], [96998667, 96998675]] [[96968718, 96968937], [96991646, 96991648]]
ENST00000553689 [[96968734, 96968937], [96986391, 96986565], [96987342, 96987409], [96991646, 96991728], [96997811, 96997923], [96998667, 96998757], [96998847, 96998986], [97000827, 97000900], [97002215, 97002336], [97003312, 97003397], [97008579, 97008633], [97009110, 97009230], [97010485, 97010595], [97014133, 97014255], [97018816, 97018959], [97022183, 97022284], [97022511, 97022750], [97026985, 97027048], [97029155, 97029230], [97031291, 97031385]] [[96968929, 96968937], [96986391, 96986565], [96987342, 96987409], [96991646, 96991728], [96997811, 96997816]]
ENST00000557320 [[96968737, 96968937], [96986391, 96986565], [96987342, 96987409], [96991646, 96991728], [96993766, 96993876], [96994289, 96994343], [96997811, 96997923], [96998667, 96998757], [96998847, 97001222]] [[96968929, 96968937], [96986391, 96986565], [96987342, 96987409], [96991646, 96991728], [96993766, 96993876], [96994289, 96994343], [96997811, 96997923], [96998667, 96998757], [96998847, 96999008]]
ENST00000554130 [[96968748, 96968937], [96986391, 96986565], [96987342, 96987409], [96993766, 96993876], [96994289, 96994343], [96997811, 96998065]] None
ENST00000557471 [[96968777, 96968937], [96986391, 96986565], [96987342, 96987409], [96991646, 96991728], [96993766, 96993876], [96994289, 96994343], [96997811, 96998585]] [[96968929, 96968937], [96986391, 96986565], [96987342, 96987409], [96991646, 96991728], [96993766, 96993876], [96994289, 96994343], [96997811, 96998033]]
ENST00000556619 [[96968878, 96968937], [96986391, 96986565], [96987300, 96987409], [96991646, 96991728], [96993766, 96993876], [96994289, 96994339]] [[96968929, 96968937], [96986391, 96986565], [96987300, 96987409], [96991646, 96991728], [96993766, 96993876], [96994289, 96994339]]
ENST00000392990 [[96968894, 96968937], [96986391, 96986565], [96987342, 96987409], [96991646, 96991728], [96993766, 96993876], [96994289, 96994343], [96997811, 96997923], [96998667, 96998757], [96998847, 96998986], [97000827, 97000900], [97002215, 97002336], [97003312, 97003397], [97008579, 97008633], [97009110, 97009230], [97010485, 97010595], [97014133, 97014255], [97018816, 97018959], [97022183, 97022284], [97022511, 97022750], [97029155, 97029230], [97031291, 97031765]] [[96968929, 96968937], [96986391, 96986565], [96987342, 96987409], [96991646, 96991728], [96993766, 96993876], [96994289, 96994343], [96997811, 96997923], [96998667, 96998757], [96998847, 96998986], [97000827, 97000900], [97002215, 97002336], [97003312, 97003397], [97008579, 97008633], [97009110, 97009230], [97010485, 97010595], [97014133, 97014255], [97018816, 97018959], [97022183, 97022284], [97022511, 97022750], [97029155, 97029230], [97031291, 97031387]]
ENST00000555626 [[96969187, 96969291], [96986391, 96986565], [96987342, 96987409], [96991646, 96991728], [96993766, 96993876], [96994289, 96994343], [96997811, 96997923], [96998667, 96998757], [96998847, 96998986], [97000827, 97000900], [97002215, 97002336], [97003312, 97003397], [97008579, 97008633], [97009110, 97009230], [97010485, 97010595], [97014133, 97014255], [97018816, 97018959], [97022183, 97022284], [97022511, 97022750], [97026985, 97027048], [97029155, 97029230], [97031291, 97031325]] [[96998900, 96998986], [97000827, 97000900], [97002215, 97002336], [97003312, 97003397], [97008579, 97008633], [97009110, 97009230], [97010485, 97010595], [97014133, 97014255], [97018816, 97018959], [97022183, 97022284], [97022511, 97022750], [97026985, 97027048], [97029155, 97029230], [97031291, 97031325]]
ENST00000557406 [[96987352, 96987409], [96991646, 96991728], [96994289, 96994343], [96997811, 96998068]] None
ENST00000555224 [[96987399, 96987409], [96991646, 96991728], [96994289, 96994343], [96997811, 96997923], [96998667, 96998757], [96998847, 96999033]] None
ENST00000555912 [[96992317, 96994343], [96997811, 96998062]] None
ENST00000556248 [[96970625, 96971036], [96986391, 96986565], [96987342, 96987409]] None
ENST00000553461 [[96993778, 96993876], [96994289, 96994343], [96997811, 96997923], [96998667, 96998757], [96998847, 96998986], [97000827, 97001226]] [[96993778, 96993876], [96994289, 96994343], [96997811, 96997923], [96998667, 96998757], [96998847, 96998986], [97000827, 97000945]]
ENST00000555131 [[97000559, 97000900], [97002215, 97002336], [97003312, 97003396]] None
ENST00000555021 [[97001861, 97002336], [97003312, 97003384]] None
ENST00000554666 [[97003231, 97003397], [97008579, 97008633], [97009110, 97009230], [97010485, 97010595], [97014133, 97014241]] None
ENST00000556787 [[97008243, 97008633], [97009110, 97009230], [97010485, 97010595], [97014133, 97014255], [97018816, 97018880]] None
ENST00000555701 [[97008518, 97009230], [97010485, 97010595], [97018816, 97019869]] None
ENST00000556283 [[97009065, 97009230], [97010485, 97010595], [97014133, 97014255], [97018816, 97018959], [97022183, 97022287]] None
ENST00000554135 [[97014024, 97014255], [97018816, 97019320]] None
ENST00000556459 [[97014232, 97014255], [97018816, 97018959], [97022183, 97022284], [97022511, 97022750], [97031291, 97031744]] [[97014232, 97014255], [97018816, 97018959], [97022183, 97022284], [97022511, 97022750], [97031291, 97031327]]
ENST00000553940 [[97026774, 97027048], [97029155, 97029230], [97031291, 97031396]] None
ENST00000555508 [[97028794, 97029230], [97031291, 97031443]] None
NM_001252006 [[96968712, 96968937], [96986391, 96986565], [96987342, 96987409], [96991646, 96991728], [96993766, 96993876], [96994289, 96994343], [96997811, 96997923], [96998667, 96998757], [96998847, 97001934]] [[96968929, 96968937], [96986391, 96986565], [96987342, 96987409], [96991646, 96991728], [96993766, 96993876], [96994289, 96994343], [96997811, 96997923], [96998667, 96998757], [96998847, 96999008]]
NM_001252007 [[96968712, 96968937], [96986391, 96986565], [96987342, 96987409], [96991646, 96991728], [96993766, 96993876], [96994289, 96994343], [96997811, 97001934]] [[96968929, 96968937], [96986391, 96986565], [96987342, 96987409], [96991646, 96991728], [96993766, 96993876], [96994289, 96994343], [96997811, 96998033]]
NM_001293632 [[96968712, 96968937], [96986391, 96986565], [96987342, 96987409], [96991646, 96991728], [96997811, 96997923], [96998667, 96998757], [96998847, 96998986], [97000827, 97000900], [97002215, 97002336], [97003312, 97003397], [97008579, 97008633], [97009110, 97009230], [97010485, 97010595], [97014133, 97014255], [97018816, 97018959], [97022183, 97022284], [97022511, 97022750], [97026985, 97027048], [97029155, 97029230], [97031291, 97033453]] [[96998900, 96998986], [97000827, 97000900], [97002215, 97002336], [97003312, 97003397], [97008579, 97008633], [97009110, 97009230], [97010485, 97010595], [97014133, 97014255], [97018816, 97018959], [97022183, 97022284], [97022511, 97022750], [97026985, 97027048], [97029155, 97029230], [97031291, 97031387]]
NM_001293627 [[96968712, 96968937], [96986391, 96986565], [96987342, 96987409], [96991646, 96991728], [96993766, 96993876], [96994289, 96994343], [96997811, 96997923], [96998667, 96998757], [96998847, 96998986], [97000827, 97000900], [97002215, 97002336], [97003312, 97003397], [97008579, 97008633], [97009110, 97009230], [97010485, 97010595], [97014133, 97014255], [97018816, 97018959], [97022186, 97022284], [97022511, 97022750], [97026985, 97027048], [97029155, 97029230], [97031291, 97033453]] [[96968929, 96968937], [96986391, 96986565], [96987342, 96987409], [96991646, 96991728], [96993766, 96993876], [96994289, 96994343], [96997811, 96997923], [96998667, 96998757], [96998847, 96998986], [97000827, 97000900], [97002215, 97002336], [97003312, 97003397], [97008579, 97008633], [97009110, 97009230], [97010485, 97010595], [97014133, 97014255], [97018816, 97018959], [97022186, 97022284], [97022511, 97022750], [97026985, 97027048], [97029155, 97029230], [97031291, 97031387]]
NM_032632 [[96968712, 96968937], [96986391, 96986565], [96987342, 96987409], [96991646, 96991728], [96993766, 96993876], [96994289, 96994343], [96997811, 96997923], [96998667, 96998757], [96998847, 96998986], [97000827, 97000900], [97002215, 97002336], [97003312, 97003397], [97008579, 97008633], [97009110, 97009230], [97010485, 97010595], [97014133, 97014255], [97018816, 97018959], [97022183, 97022284], [97022511, 97022750], [97026985, 97027048], [97029155, 97029230], [97031291, 97033453]] [[96968929, 96968937], [96986391, 96986565], [96987342, 96987409], [96991646, 96991728], [96993766, 96993876], [96994289, 96994343], [96997811, 96997923], [96998667, 96998757], [96998847, 96998986], [97000827, 97000900], [97002215, 97002336], [97003312, 97003397], [97008579, 97008633], [97009110, 97009230], [97010485, 97010595], [97014133, 97014255], [97018816, 97018959], [97022183, 97022284], [97022511, 97022750], [97026985, 97027048], [97029155, 97029230], [97031291, 97031387]]
NM_001293628 [[96969201, 96969291], [96986391, 96986565], [96987342, 96987409], [96991646, 96991728], [96993766, 96993876], [96994289, 96994343], [96997811, 96997923], [96998667, 96998757], [96998847, 96998986], [97000827, 97000900], [97002215, 97002336], [97003312, 97003397], [97008579, 97008633], [97009110, 97009230], [97010485, 97010595], [97014133, 97014255], [97018816, 97018959], [97022183, 97022284], [97022511, 97022750], [97026985, 97027048], [97029155, 97029230], [97031291, 97033453]] [[96998900, 96998986], [97000827, 97000900], [97002215, 97002336], [97003312, 97003397], [97008579, 97008633], [97009110, 97009230], [97010485, 97010595], [97014133, 97014255], [97018816, 97018959], [97022183, 97022284], [97022511, 97022750], [97026985, 97027048], [97029155, 97029230], [97031291, 97031387]]
Promoter
Chrom Start End Description
chr14 96968707 96968788 CAGE_peak_1_at_PAPOLA_5end
chr14 96968802 96968817 CAGE_peak_2_at_PAPOLA_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I096796 96796724 96798807 2.01 [{'connected_gene': 'VRK1', 'score': 558.36}, {'connected_gene': 'PAPOLA', 'score': 13.8}, {'connected_gene': 'ATG2B', 'score': 10.13}, {'connected_gene': 'GC14P096860', 'score': 0.21}]
chr14 GH14I096566 96566850 96567096 0.51 [{'connected_gene': 'LOC730202', 'score': 6.94}, {'connected_gene': 'GC14P096563', 'score': 0.77}, {'connected_gene': 'GC14P096593', 'score': 0.31}, {'connected_gene': 'PAPOLA', 'score': 0.2}]
chr14 GH14I096505 96505201 96505400 0.31 [{'connected_gene': 'LOC730202', 'score': 13.53}, {'connected_gene': 'PAPOLA', 'score': 0.77}, {'connected_gene': 'ENSG00000276182', 'score': 0.29}]
chr14 GH14I096510 96510201 96511400 0.38 [{'connected_gene': 'LOC730202', 'score': 13.22}, {'connected_gene': 'PAPOLA', 'score': 0.44}, {'connected_gene': 'ENSG00000276182', 'score': 0.31}]
chr14 GH14I096507 96507801 96509800 0.74 [{'connected_gene': 'LOC730202', 'score': 13.19}, {'connected_gene': 'PAPOLA', 'score': 0.44}, {'connected_gene': 'ENSG00000276182', 'score': 0.31}]
chr14 GH14I096504 96504384 96504533 0.38 [{'connected_gene': 'LOC730202', 'score': 0.77}, {'connected_gene': 'PAPOLA', 'score': 0.77}, {'connected_gene': 'ENSG00000276182', 'score': 0.29}]
chr14 GH14I096513 96513001 96513400 0.49 [{'connected_gene': 'LOC730202', 'score': 13.15}, {'connected_gene': 'PAPOLA', 'score': 0.39}, {'connected_gene': 'ENSG00000276182', 'score': 0.34}]
chr14 GH14I096260 96260212 96263945 0.98 [{'connected_gene': 'BDKRB2', 'score': 13.66}, {'connected_gene': 'ATG2B', 'score': 9.97}, {'connected_gene': 'PAPOLA', 'score': 9.28}, {'connected_gene': 'ENSG00000258793', 'score': 7.51}, {'connected_gene': 'GC14M096266', 'score': 0.77}, {'connected_gene': 'BDKRB1', 'score': 0.44}, {'connected_gene': 'ENSG00000258691', 'score': 0.22}]
chr14 GH14I096203 96203552 96207284 2.1 [{'connected_gene': 'BDKRB2', 'score': 550.77}, {'connected_gene': 'ENSG00000258691', 'score': 550.77}, {'connected_gene': 'PAPOLA', 'score': 13.8}, {'connected_gene': 'SCARNA13', 'score': 12.22}, {'connected_gene': 'SNHG10', 'score': 10.65}, {'connected_gene': 'ENSG00000258412', 'score': 0.44}]
chr14 GH14I096467 96467510 96469560 0.69 [{'connected_gene': 'GSKIP', 'score': 4.5}, {'connected_gene': 'RPL23AP10', 'score': 0.39}, {'connected_gene': 'PAPOLA', 'score': 0.29}, {'connected_gene': 'AK7', 'score': 0.18}]
chr14 GH14I096285 96285190 96286355 0.72 [{'connected_gene': 'GSKIP', 'score': 10.27}, {'connected_gene': 'PAPOLA', 'score': 9.45}, {'connected_gene': 'ENSG00000258729', 'score': 0.44}, {'connected_gene': 'ATG2B', 'score': 0.18}]
chr14 GH14I096307 96307776 96311710 0.59 [{'connected_gene': 'GSKIP', 'score': 67.03}, {'connected_gene': 'RNU2-33P', 'score': 10.45}, {'connected_gene': 'PAPOLA', 'score': 9.67}, {'connected_gene': 'ENSG00000258729', 'score': 0.29}, {'connected_gene': 'ATG2B', 'score': 0.23}]
chr14 GH14I095530 95530469 95539280 2.5 [{'connected_gene': 'GLRX5', 'score': 569.8}, {'connected_gene': 'SCARNA13', 'score': 561.27}, {'connected_gene': 'SNHG10', 'score': 560.94}, {'connected_gene': 'GC14M095534', 'score': 550.77}, {'connected_gene': 'GC14M095530', 'score': 550.77}, {'connected_gene': 'PAPOLA', 'score': 20.18}, {'connected_gene': 'LOC101929107', 'score': 10.81}, {'connected_gene': 'DICER1', 'score': 10.48}]
chr14 GH14I096224 96224064 96226514 0.99 [{'connected_gene': 'SNHG10', 'score': 23.48}, {'connected_gene': 'SCARNA13', 'score': 16.63}, {'connected_gene': 'PAPOLA', 'score': 15.03}, {'connected_gene': 'ATG2B', 'score': 14.59}, {'connected_gene': 'GC14P096224', 'score': 0.77}, {'connected_gene': 'ENSG00000259036', 'score': 0.44}, {'connected_gene': 'BDKRB2', 'score': 0.34}, {'connected_gene': 'ENSG00000258691', 'score': 0.34}]
chr14 GH14I096500 96500987 96504348 2.07 [{'connected_gene': 'PAPOLA', 'score': 567.74}, {'connected_gene': 'LOC730202', 'score': 564.39}, {'connected_gene': 'GC14M096501', 'score': 550.77}, {'connected_gene': 'SCARNA13', 'score': 12.21}, {'connected_gene': 'SNHG10', 'score': 10.64}, {'connected_gene': 'ENSG00000276182', 'score': 0.29}]
chr14 GH14I096573 96573115 96575213 0.85 [{'connected_gene': 'PAPOLA', 'score': 26.22}, {'connected_gene': 'LOC730202', 'score': 12.35}, {'connected_gene': 'ATG2B', 'score': 9.87}, {'connected_gene': 'GC14P096563', 'score': 0.39}, {'connected_gene': 'GC14P096593', 'score': 0.37}]
chr14 GH14I096525 96525295 96525354 0.5 [{'connected_gene': 'PAPOLA', 'score': 560.98}, {'connected_gene': 'ENSG00000276182', 'score': 0.39}, {'connected_gene': 'LOC730202', 'score': 0.34}]
chr14 GH14I096138 96138018 96138900 0.66 [{'connected_gene': 'PAPOLA', 'score': 16.79}, {'connected_gene': 'SCARNA13', 'score': 16.74}, {'connected_gene': 'DICER1', 'score': 14.38}, {'connected_gene': 'SNHG10', 'score': 11.79}, {'connected_gene': 'BDKRB2', 'score': 6.06}, {'connected_gene': 'C14orf132', 'score': 0.15}]
chr14 GH14I096101 96100176 96100553 0.98 [{'connected_gene': 'PAPOLA', 'score': 16.08}, {'connected_gene': 'SCARNA13', 'score': 12.73}, {'connected_gene': 'DICER1', 'score': 11.55}, {'connected_gene': 'SNHG10', 'score': 10.74}, {'connected_gene': 'BDKRB2', 'score': 10.64}, {'connected_gene': 'C14orf132', 'score': 5.94}]
chr14 GH14I096100 96100600 96107873 1.57 [{'connected_gene': 'PAPOLA', 'score': 16.08}, {'connected_gene': 'BDKRB2', 'score': 14.07}, {'connected_gene': 'SCARNA13', 'score': 12.73}, {'connected_gene': 'DICER1', 'score': 11.55}, {'connected_gene': 'SNHG10', 'score': 10.74}, {'connected_gene': 'C14orf132', 'score': 5.16}, {'connected_gene': 'BDKRB1', 'score': 2.44}]
chr14 GH14I096460 96460575 96463476 0.92 [{'connected_gene': 'PAPOLA', 'score': 10.95}, {'connected_gene': 'ATG2B', 'score': 10.01}, {'connected_gene': 'GSKIP', 'score': 4.43}, {'connected_gene': 'RPL23AP10', 'score': 0.77}, {'connected_gene': 'AK7', 'score': 0.2}]
chr14 GH14I096888 96888589 96888866 1.09 [{'connected_gene': 'PAPOLA', 'score': 16.26}, {'connected_gene': 'ATG2B', 'score': 9.83}, {'connected_gene': 'GC14P096860', 'score': 0.31}, {'connected_gene': 'LINC00618', 'score': 0.26}, {'connected_gene': 'VRK1', 'score': 0.16}]
chr14 GH14I096479 96479604 96479753 0.38 [{'connected_gene': 'PAPOLA', 'score': 12.0}, {'connected_gene': 'RPL23AP10', 'score': 0.34}, {'connected_gene': 'AK7', 'score': 0.17}]
chr14 GH14I096497 96497230 96498250 0.49 [{'connected_gene': 'PAPOLA', 'score': 0.77}, {'connected_gene': 'RPL23AP10', 'score': 0.26}]
chr14 GH14I096496 96496001 96496200 0.2 [{'connected_gene': 'PAPOLA', 'score': 0.44}, {'connected_gene': 'RPL23AP10', 'score': 0.28}]
chr14 GH14I096445 96445823 96446500 0.65 [{'connected_gene': 'PAPOLA', 'score': 11.02}, {'connected_gene': 'RNU2-33P', 'score': 10.03}, {'connected_gene': 'GSKIP', 'score': 9.99}, {'connected_gene': 'GC14M096457', 'score': 0.39}, {'connected_gene': 'PEBP1P1', 'score': 0.34}, {'connected_gene': 'AK7', 'score': 0.23}]
chr14 GH14I096584 96584344 96584513 0.72 [{'connected_gene': 'PAPOLA', 'score': 9.72}, {'connected_gene': 'GC14P096593', 'score': 0.44}, {'connected_gene': 'GC14P096563', 'score': 0.34}]
chr14 GH14I096585 96585813 96586048 0.4 [{'connected_gene': 'PAPOLA', 'score': 9.72}, {'connected_gene': 'GC14P096593', 'score': 0.44}, {'connected_gene': 'GC14P096563', 'score': 0.34}]
chr14 GH14I096409 96409784 96409953 0.62 [{'connected_gene': 'RNU2-33P', 'score': 11.69}, {'connected_gene': 'GSKIP', 'score': 11.62}, {'connected_gene': 'PAPOLA', 'score': 10.64}, {'connected_gene': 'GC14M096423', 'score': 0.39}, {'connected_gene': 'AK7', 'score': 0.37}]
chr14 GH14I096264 96264888 96270166 1.14 [{'connected_gene': 'ENSG00000258793', 'score': 562.13}, {'connected_gene': 'GC14M096266', 'score': 550.77}, {'connected_gene': 'BDKRB2', 'score': 9.17}, {'connected_gene': 'PAPOLA', 'score': 9.06}, {'connected_gene': 'GSKIP', 'score': 8.23}, {'connected_gene': 'BDKRB1', 'score': 5.22}, {'connected_gene': 'GC14M096269', 'score': 0.77}]

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