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
ENST00000370812 [[77554674, 77558175], [77587959, 77588044], [77620133, 77620306], [77626979, 77627090], [77627278, 77627396], [77629530, 77629627], [77632403, 77632515], [77634944, 77635080], [77672324, 77672416], [77676120, 77676174], [77684994, 77685111]] [[77558058, 77558175], [77587959, 77588044], [77620133, 77620306], [77626979, 77627090], [77627278, 77627396], [77629530, 77629627], [77632403, 77632515], [77634944, 77635080], [77672324, 77672416], [77676120, 77676174], [77684994, 77685087]]
ENST00000445065 [[77554674, 77558175], [77587959, 77588044], [77620133, 77620306], [77626979, 77627090], [77627278, 77627396], [77629530, 77629627], [77632403, 77632515], [77684994, 77685115]] [[77558058, 77558175], [77587959, 77588044], [77620133, 77620306], [77626979, 77627090], [77627278, 77627396], [77629530, 77629627], [77632403, 77632515], [77684994, 77685087]]
ENST00000370813 [[77557689, 77558175], [77587959, 77588044], [77620133, 77620306], [77626979, 77627090], [77627278, 77627396], [77629530, 77629627], [77632403, 77632515], [77676120, 77676174], [77684994, 77685115]] [[77558058, 77558175], [77587959, 77588044], [77620133, 77620306], [77626979, 77627090], [77627278, 77627396], [77629530, 77629627], [77632403, 77632515], [77676120, 77676174], [77684994, 77685087]]
ENST00000487906 [[77557886, 77558175], [77587959, 77588044], [77620133, 77620306], [77626979, 77627090], [77627278, 77627396], [77629530, 77629627], [77634944, 77635004]] [[77629603, 77629627], [77634944, 77635004]]
ENST00000359130 [[77619220, 77620306], [77626979, 77627090], [77627278, 77627396], [77629530, 77629627], [77632403, 77632515], [77634944, 77635080], [77672324, 77672416], [77676120, 77676174], [77684994, 77685114]] [[77620120, 77620306], [77626979, 77627090], [77627278, 77627396], [77629530, 77629627], [77632403, 77632515], [77634944, 77635080], [77672324, 77672416], [77676120, 77676174], [77684994, 77685087]]
ENST00000478391 [[77620178, 77620306], [77626979, 77627090], [77627278, 77627396], [77629530, 77629627], [77632403, 77632515], [77676120, 77676174], [77684994, 77685111]] None
NM_005482 [[77554665, 77558175], [77587959, 77588044], [77620133, 77620306], [77626979, 77627090], [77627278, 77627396], [77629530, 77629627], [77632403, 77632515], [77634944, 77635080], [77672324, 77672416], [77676120, 77676174], [77684994, 77685132]] [[77558058, 77558175], [77587959, 77588044], [77620133, 77620306], [77626979, 77627090], [77627278, 77627396], [77629530, 77629627], [77632403, 77632515], [77634944, 77635080], [77672324, 77672416], [77676120, 77676174], [77684994, 77685087]]
Promoter
Chrom Start End Description
chr1 77685084 77685122 CAGE_peak_1_at_PIGK_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I077126 77126001 77126200 0.57 [{'connected_gene': 'RPL17P6', 'score': 0.77}, {'connected_gene': 'ENSG00000230498', 'score': 0.22}, {'connected_gene': 'GC01M077065', 'score': 0.19}, {'connected_gene': 'PIGK', 'score': 0.16}]
chr1 GH01I077352 77352076 77353104 0.2 [{'connected_gene': 'AK5', 'score': 14.78}, {'connected_gene': 'PIGK', 'score': 10.02}, {'connected_gene': 'RNU7-8P', 'score': 9.34}, {'connected_gene': 'ENSG00000233099', 'score': 0.77}, {'connected_gene': 'GC01P077416', 'score': 0.21}]
chr1 GH01I077412 77412302 77413800 1.35 [{'connected_gene': 'AK5', 'score': 10.37}, {'connected_gene': 'PIGK', 'score': 4.36}, {'connected_gene': 'GC01P077416', 'score': 0.77}, {'connected_gene': 'ENSG00000233099', 'score': 0.21}]
chr1 GH01I077353 77353255 77355445 0.2 [{'connected_gene': 'AK5', 'score': 15.52}, {'connected_gene': 'RNU7-8P', 'score': 10.53}, {'connected_gene': 'PIGK', 'score': 10.02}, {'connected_gene': 'ENSG00000233099', 'score': 0.77}, {'connected_gene': 'GC01P077416', 'score': 0.21}]
chr1 GH01I077439 77438234 77439000 0.71 [{'connected_gene': 'PIGK', 'score': 10.28}, {'connected_gene': 'AK5', 'score': 5.77}, {'connected_gene': 'GC01P077421', 'score': 0.37}, {'connected_gene': 'GC01P077502', 'score': 0.21}]
chr1 GH01I077218 77218180 77220401 1.98 [{'connected_gene': 'PIGK', 'score': 563.81}, {'connected_gene': 'LOC105378808', 'score': 550.77}, {'connected_gene': 'GC01M077065', 'score': 0.34}]
chr1 GH01I077248 77248011 77248103 0.23 [{'connected_gene': 'PIGK', 'score': 11.03}, {'connected_gene': 'RNU7-8P', 'score': 9.54}, {'connected_gene': 'GC01P077226', 'score': 0.34}, {'connected_gene': 'AK5', 'score': 0.29}]
chr1 GH01I077467 77467693 77468939 0.31 [{'connected_gene': 'ENSG00000233099', 'score': 11.08}, {'connected_gene': 'AK5', 'score': 11.04}, {'connected_gene': 'PIGK', 'score': 9.56}, {'connected_gene': 'GC01P077502', 'score': 0.29}, {'connected_gene': 'GC01P077421', 'score': 0.25}]
chr1 GH01I077271 77271710 77272391 0.31 [{'connected_gene': 'ENSG00000233099', 'score': 10.97}, {'connected_gene': 'PIGK', 'score': 10.51}, {'connected_gene': 'AK5', 'score': 0.44}, {'connected_gene': 'GC01P077226', 'score': 0.25}]