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
ENST00000416569 [[10754032, 10756426], [10782143, 10782340], [11058084, 11058875]] [[10755461, 10756426], [10782143, 10782340], [11058084, 11058848]]
ENST00000529336 [[10969154, 10969402], [10971381, 10971602], [11058084, 11058343]] [[10971583, 10971602], [11058084, 11058343]]
ENST00000382461 [[10753554, 10756426], [10782143, 10782340], [10859897, 10859991]] [[10755461, 10756426], [10782143, 10782340], [10859897, 10859991]]
ENST00000304437 [[10753664, 10756426], [10782143, 10782340], [10859897, 10859991]] [[10755461, 10756426], [10782143, 10782267]]
ENST00000297303 [[11051944, 11052730], [11058084, 11058848]] [[11052630, 11052730], [11058084, 11058848]]
NM_173683 [[10753653, 10756426], [10782143, 10782340], [11058084, 11058875]] [[10755461, 10756426], [10782143, 10782340], [11058084, 11058848]]
NR_138152 [[10969230, 10969402], [10971381, 10971602], [11052599, 11052730], [11058084, 11058875]] None
NR_138154 [[10969230, 10969402], [10971381, 10971602], [11058084, 11058875]] None
NR_138153 [[10969230, 10969402], [10971530, 10971602], [11058084, 11058875]] None
Promoter
Chrom Start End Description
chr8 11058847 11058887 CAGE_peak_2_at_XKR6_5end
chr8 11059308 11059349 CAGE_peak_1_at_XKR6_5end
chr8 11059370 11059381 CAGE_peak_4_at_XKR6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I011455 11455889 11458985 2.16 [{'connected_gene': 'FAM167A', 'score': 574.87}, {'connected_gene': 'BLK', 'score': 11.27}, {'connected_gene': 'LOC105379241', 'score': 11.15}, {'connected_gene': 'ENSG00000255518', 'score': 11.14}, {'connected_gene': 'ENSG00000255354', 'score': 11.14}, {'connected_gene': 'ENSG00000255310', 'score': 7.73}, {'connected_gene': 'XKR6', 'score': 3.25}, {'connected_gene': 'MTMR9', 'score': 2.21}, {'connected_gene': 'PIR35143', 'score': 0.29}]
chr8 GH08I011464 11464353 11468260 2.46 [{'connected_gene': 'FAM167A', 'score': 567.44}, {'connected_gene': 'PINX1', 'score': 13.36}, {'connected_gene': 'LOC101929290', 'score': 13.08}, {'connected_gene': 'LOC105379241', 'score': 12.35}, {'connected_gene': 'ENSG00000255310', 'score': 8.15}, {'connected_gene': 'MTMR9', 'score': 1.91}, {'connected_gene': 'NEIL2', 'score': 1.19}, {'connected_gene': 'XKR6', 'score': 1.18}, {'connected_gene': 'PIR35143', 'score': 0.26}]
chr8 GH08I010972 10972411 10972500 0.78 [{'connected_gene': 'LINC00529', 'score': 9.89}, {'connected_gene': 'GC08P010967', 'score': 0.44}, {'connected_gene': 'PIR55470', 'score': 0.44}, {'connected_gene': 'MIR598', 'score': 0.21}, {'connected_gene': 'XKR6', 'score': 0.07}]
chr8 GH08I010990 10990271 10990420 0.95 [{'connected_gene': 'MIR598', 'score': 11.96}, {'connected_gene': 'LINC00529', 'score': 9.94}, {'connected_gene': 'GC08P010967', 'score': 0.34}, {'connected_gene': 'PIR55470', 'score': 0.34}, {'connected_gene': 'XKR6', 'score': 0.08}]
chr8 GH08I011050 11050031 11050140 0.2 [{'connected_gene': 'MIR598', 'score': 0.39}, {'connected_gene': 'LOC101929269', 'score': 0.37}, {'connected_gene': 'XKR6', 'score': 0.1}]
chr8 GH08I011013 11013982 11017154 1.49 [{'connected_gene': 'MTMR9', 'score': 10.69}, {'connected_gene': 'ENSG00000269918', 'score': 9.04}, {'connected_gene': 'ENSG00000255310', 'score': 8.7}, {'connected_gene': 'XKR6', 'score': 1.27}, {'connected_gene': 'MIR598', 'score': 0.37}, {'connected_gene': 'GC08P010967', 'score': 0.25}, {'connected_gene': 'PIR55470', 'score': 0.25}]
chr8 GH08I011178 11178857 11179041 0.33 [{'connected_gene': 'XKR6', 'score': 14.26}, {'connected_gene': 'ENSG00000254936', 'score': 11.31}, {'connected_gene': 'MTMR9', 'score': 1.82}, {'connected_gene': 'RPL17P29', 'score': 0.77}, {'connected_gene': 'GC08M011176', 'score': 0.44}]
chr8 GH08I011199 11199067 11202461 1.97 [{'connected_gene': 'XKR6', 'score': 550.77}, {'connected_gene': 'GC08P011201', 'score': 550.77}, {'connected_gene': 'PINX1', 'score': 15.39}, {'connected_gene': 'LOC101929290', 'score': 13.49}, {'connected_gene': 'ENSG00000254936', 'score': 10.52}, {'connected_gene': 'ENSG00000269918', 'score': 6.84}, {'connected_gene': 'GC08M011176', 'score': 0.39}]
chr8 GH08I011053 11053451 11053600 0.31 [{'connected_gene': 'XKR6', 'score': 9.81}, {'connected_gene': 'ENSG00000254936', 'score': 9.78}, {'connected_gene': 'LOC101929269', 'score': 0.39}, {'connected_gene': 'MIR598', 'score': 0.37}]
chr8 GH08I010627 10627942 10632899 0.92 [{'connected_gene': 'LOC105379241', 'score': 16.32}, {'connected_gene': 'ENSG00000269954', 'score': 12.68}, {'connected_gene': 'ENSG00000269918', 'score': 5.23}, {'connected_gene': 'ENSG00000272505', 'score': 5.13}, {'connected_gene': 'PRSS51', 'score': 4.82}, {'connected_gene': 'XKR6', 'score': 4.54}, {'connected_gene': 'ENSG00000255310', 'score': 4.38}, {'connected_gene': 'MIR4286', 'score': 0.28}, {'connected_gene': 'LOC105379237', 'score': 0.25}, {'connected_gene': 'RP1L1', 'score': 0.18}]
chr8 GH08I011063 11063567 11067759 1.01 [{'connected_gene': 'LOC101929269', 'score': 550.77}, {'connected_gene': 'ENSG00000255310', 'score': 18.94}, {'connected_gene': 'ENSG00000269954', 'score': 10.34}, {'connected_gene': 'ENSG00000254936', 'score': 10.33}, {'connected_gene': 'ENSG00000269918', 'score': 7.62}, {'connected_gene': 'MIR598', 'score': 0.29}, {'connected_gene': 'XKR6', 'score': 0.12}]
chr8 GH08I011092 11092401 11092800 0.75 [{'connected_gene': 'LOC101929269', 'score': 12.06}, {'connected_gene': 'XKR6', 'score': 11.15}, {'connected_gene': 'ENSG00000254936', 'score': 10.96}, {'connected_gene': 'ENSG00000269918', 'score': 0.39}]
chr8 GH08I011174 11174654 11175023 0.22 [{'connected_gene': 'RPL17P29', 'score': 550.77}, {'connected_gene': 'ENSG00000255310', 'score': 15.16}, {'connected_gene': 'XKR6', 'score': 11.39}, {'connected_gene': 'ENSG00000254936', 'score': 11.32}, {'connected_gene': 'ENSG00000254556', 'score': 0.28}]
chr8 GH08I011051 11050201 11050400 0.2 [{'connected_gene': 'ENSG00000269918', 'score': 12.2}, {'connected_gene': 'MIR598', 'score': 0.39}, {'connected_gene': 'LOC101929269', 'score': 0.37}, {'connected_gene': 'XKR6', 'score': 0.1}]
chr8 GH08I011168 11168344 11169753 0.31 [{'connected_gene': 'ENSG00000254936', 'score': 11.29}, {'connected_gene': 'XKR6', 'score': 11.18}, {'connected_gene': 'ENSG00000269918', 'score': 6.41}, {'connected_gene': 'RPL17P29', 'score': 0.44}, {'connected_gene': 'ENSG00000254556', 'score': 0.29}]
chr8 GH08I011197 11197452 11197601 0.56 [{'connected_gene': 'ENSG00000254936', 'score': 10.96}, {'connected_gene': 'XKR6', 'score': 0.77}, {'connected_gene': 'GC08P011201', 'score': 0.77}, {'connected_gene': 'GC08M011176', 'score': 0.39}]
chr8 GH08I011123 11123257 11125692 0.83 [{'connected_gene': 'ENSG00000254936', 'score': 550.77}, {'connected_gene': 'ENSG00000255310', 'score': 19.1}, {'connected_gene': 'ENSG00000269918', 'score': 12.9}, {'connected_gene': 'XKR6', 'score': 0.18}]
chr8 GH08I010907 10907110 10907350 0.23 [{'connected_gene': 'PIR49045', 'score': 0.29}, {'connected_gene': 'GC08P010967', 'score': 0.22}, {'connected_gene': 'PIR55470', 'score': 0.22}, {'connected_gene': 'XKR6', 'score': 0.06}]
chr8 GH08I010928 10928511 10928801 1.12 [{'connected_gene': 'ENSG00000269918', 'score': 11.7}, {'connected_gene': 'GC08P010967', 'score': 0.28}, {'connected_gene': 'PIR55470', 'score': 0.28}, {'connected_gene': 'PIR49045', 'score': 0.23}, {'connected_gene': 'XKR6', 'score': 0.06}]
chr8 GH08I010965 10965650 10965862 0.41 [{'connected_gene': 'GC08P010967', 'score': 550.77}, {'connected_gene': 'PIR55470', 'score': 550.77}, {'connected_gene': 'C8orf74', 'score': 26.34}, {'connected_gene': 'PRSS55', 'score': 16.61}, {'connected_gene': 'ENSG00000254936', 'score': 9.73}, {'connected_gene': 'PIR49045', 'score': 0.16}, {'connected_gene': 'XKR6', 'score': 0.07}]
chr8 GH08I011047 11047831 11048411 0.49 [{'connected_gene': 'ENSG00000255310', 'score': 5.81}, {'connected_gene': 'LOC105379241', 'score': 5.08}, {'connected_gene': 'MIR598', 'score': 0.39}, {'connected_gene': 'LOC101929269', 'score': 0.37}, {'connected_gene': 'XKR6', 'score': 0.1}]
chr8 GH08I011138 11138851 11139903 0.43 [{'connected_gene': 'ENSG00000254556', 'score': 550.77}, {'connected_gene': 'LOC105379241', 'score': 13.27}, {'connected_gene': 'XKR6', 'score': 10.26}, {'connected_gene': 'ENSG00000255518', 'score': 9.65}, {'connected_gene': 'RPL17P29', 'score': 0.28}]
chr8 GH08I011007 11007831 11007920 0.2 [{'connected_gene': 'ENSG00000254936', 'score': 10.18}, {'connected_gene': 'LOC101929290', 'score': 4.66}, {'connected_gene': 'MIR598', 'score': 0.31}, {'connected_gene': 'GC08P010967', 'score': 0.26}, {'connected_gene': 'PIR55470', 'score': 0.26}, {'connected_gene': 'XKR6', 'score': 0.08}]
chr8 GH08I011059 11059001 11060000 0.85 [{'connected_gene': 'ENSG00000269918', 'score': 13.3}, {'connected_gene': 'ENSG00000255310', 'score': 11.97}, {'connected_gene': 'ENSG00000254936', 'score': 10.32}, {'connected_gene': 'LOC101929269', 'score': 0.44}, {'connected_gene': 'MIR598', 'score': 0.34}, {'connected_gene': 'XKR6', 'score': 0.11}]