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
ENST00000602795 [[57556262, 57556424], [57561147, 57561263], [57561808, 57561918], [57562762, 57562872], [57563968, 57564076], [57564542, 57564695], [57564912, 57565043], [57565964, 57566130], [57566366, 57566501], [57566935, 57567075], [57568052, 57568167], [57568503, 57568599], [57568678, 57568819], [57569164, 57569294], [57569696, 57570188]] [[57556310, 57556424], [57561147, 57561263], [57561808, 57561918], [57562762, 57562872], [57563968, 57564076], [57564542, 57564695], [57564912, 57565043], [57565964, 57566130], [57566366, 57566501], [57566935, 57567075], [57568052, 57568167], [57568503, 57568599], [57568678, 57568819], [57569164, 57569294], [57569696, 57569731]]
ENST00000471621 [[57556306, 57556424], [57561147, 57561263], [57561808, 57562476]] None
ENST00000492016 [[57556306, 57556424], [57561147, 57561263], [57561808, 57561918], [57562762, 57563024]] None
ENST00000344018 [[57556310, 57556424], [57561147, 57561263], [57561808, 57561918], [57562762, 57562872], [57563968, 57564076], [57564542, 57564695], [57564912, 57565043], [57565964, 57566130], [57566366, 57566501], [57566935, 57567075], [57568052, 57568167], [57568503, 57568599], [57568678, 57568819], [57569164, 57569294], [57569696, 57570186]] [[57556337, 57556424], [57561147, 57561263], [57561808, 57561918], [57562762, 57562872], [57563968, 57564076], [57564542, 57564695], [57564912, 57565043], [57565964, 57566130], [57566366, 57566501], [57566935, 57567075], [57568052, 57568167], [57568503, 57568599], [57568678, 57568819], [57569164, 57569294], [57569696, 57569731]]
ENST00000464363 [[57556329, 57556424], [57561147, 57561816]] None
ENST00000482747 [[57556329, 57556424], [57561147, 57561263], [57561808, 57561918], [57562762, 57562872], [57563968, 57564695], [57564912, 57565455]] None
ENST00000460601 [[57556329, 57556424], [57561147, 57561263], [57561808, 57561918], [57562762, 57562872], [57563968, 57564076], [57564542, 57564695], [57564912, 57565043], [57565964, 57566130], [57566366, 57566501], [57566935, 57567075], [57568052, 57568167], [57568503, 57568599], [57568678, 57568819], [57569164, 57569294], [57569696, 57569879], [57569980, 57570188]] [[57556329, 57556424], [57561147, 57561263], [57561808, 57561918], [57562762, 57562872], [57563968, 57564076], [57564542, 57564695], [57564912, 57565043], [57565964, 57566130], [57566366, 57566501], [57566935, 57567075], [57568052, 57568167], [57568503, 57568599], [57568678, 57568819], [57569164, 57569294], [57569696, 57569731]]
ENST00000477741 [[57562764, 57562872], [57563968, 57564076], [57564542, 57564695], [57564912, 57565287], [57565964, 57566130], [57566366, 57566501], [57566935, 57567075], [57568052, 57568167], [57568503, 57568599], [57568678, 57568730], [57569164, 57569294], [57569696, 57570188]] None
ENST00000474543 [[57564073, 57564076], [57564542, 57564695], [57564912, 57565043], [57565964, 57566130], [57566366, 57566501], [57566935, 57567075], [57568052, 57568167], [57568503, 57568599], [57568678, 57569294], [57569696, 57570188]] None
ENST00000478389 [[57565149, 57567075], [57568052, 57568599], [57568678, 57569294], [57569696, 57570188]] None
ENST00000497935 [[57565950, 57566130], [57566366, 57566501], [57566935, 57567075], [57568052, 57568167], [57568503, 57568599]] None
ENST00000490205 [[57566091, 57566130], [57566366, 57566977]] None
ENST00000479207 [[57566366, 57566501], [57566935, 57567075], [57568052, 57568167], [57568503, 57568599], [57568678, 57568730], [57569164, 57569246], [57569696, 57570188]] None
ENST00000486263 [[57568977, 57569294], [57569696, 57569879], [57569980, 57570188]] None
NM_198976 [[57556262, 57556424], [57561147, 57561263], [57561808, 57561918], [57562762, 57562872], [57563968, 57564076], [57564542, 57564695], [57564912, 57565043], [57565964, 57566130], [57566366, 57566501], [57566935, 57567075], [57568052, 57568167], [57568503, 57568599], [57568678, 57568819], [57569164, 57569294], [57569696, 57570188]] [[57556310, 57556424], [57561147, 57561263], [57561808, 57561918], [57562762, 57562872], [57563968, 57564076], [57564542, 57564695], [57564912, 57565043], [57565964, 57566130], [57566366, 57566501], [57566935, 57567075], [57568052, 57568167], [57568503, 57568599], [57568678, 57568819], [57569164, 57569294], [57569696, 57569731]]
Promoter
Chrom Start End Description
chr20 57556290 57556370 CAGE_peak_1_at_TH1L_5end
chr20 57562489 57562529 CAGE_peak_10_at_TH1L_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I058619 58619965 58620214 0.63 [{'connected_gene': 'STX16', 'score': 14.21}, {'connected_gene': 'NELFCD', 'score': 12.2}, {'connected_gene': 'LOC101927932', 'score': 10.57}, {'connected_gene': 'PIR40957', 'score': 0.39}, {'connected_gene': 'ENSG00000254620', 'score': 0.31}]
chr20 GH20I058649 58649194 58654945 2.37 [{'connected_gene': 'STX16', 'score': 589.23}, {'connected_gene': 'GC20M058648', 'score': 550.77}, {'connected_gene': 'STX16-NPEPL1', 'score': 550.77}, {'connected_gene': 'LOC101927932', 'score': 81.74}, {'connected_gene': 'NELFCD', 'score': 46.92}, {'connected_gene': 'PPP4R1L', 'score': 40.23}, {'connected_gene': 'ENSG00000254419', 'score': 33.22}, {'connected_gene': 'NPEPL1', 'score': 30.24}, {'connected_gene': 'ENSG00000270951', 'score': 10.1}, {'connected_gene': 'PIR50186', 'score': 0.31}]
chr20 GH20I058688 58688402 58694512 2.22 [{'connected_gene': 'NPEPL1', 'score': 567.17}, {'connected_gene': 'NELFCD', 'score': 17.06}, {'connected_gene': 'LOC101927932', 'score': 13.64}, {'connected_gene': 'PPP4R1L', 'score': 12.71}, {'connected_gene': 'STX16', 'score': 11.21}, {'connected_gene': 'ENSG00000254419', 'score': 10.1}, {'connected_gene': 'STX16-NPEPL1', 'score': 0.26}]
chr20 GH20I058305 58305983 58311373 2.54 [{'connected_gene': 'RAB22A', 'score': 557.17}, {'connected_gene': 'PPP4R1L', 'score': 555.64}, {'connected_gene': 'NELFCD', 'score': 22.06}, {'connected_gene': 'RAE1', 'score': 20.65}, {'connected_gene': 'LOC101927932', 'score': 14.89}, {'connected_gene': 'STX16', 'score': 3.42}, {'connected_gene': 'ANKRD60', 'score': 0.18}]
chr20 GH20I059938 59938318 59942302 2.07 [{'connected_gene': 'PPP1R3D', 'score': 550.77}, {'connected_gene': 'FAM217B', 'score': 550.44}, {'connected_gene': 'NELFCD', 'score': 34.84}, {'connected_gene': 'CDH26', 'score': 0.37}]
chr20 GH20I059970 59970944 59973377 0.96 [{'connected_gene': 'NELFCD', 'score': 55.65}, {'connected_gene': 'CDH26', 'score': 0.37}, {'connected_gene': 'C20orf197', 'score': 0.18}]
chr20 GH20I058980 58980666 58983188 2.29 [{'connected_gene': 'NELFCD', 'score': 590.84}, {'connected_gene': 'PPP4R1L', 'score': 12.82}, {'connected_gene': 'STX16', 'score': 12.27}, {'connected_gene': 'LOC101927932', 'score': 10.99}, {'connected_gene': 'ENSG00000254419', 'score': 10.48}, {'connected_gene': 'ZNF831', 'score': 2.35}, {'connected_gene': 'GC20M058985', 'score': 0.44}]
chr20 GH20I058989 58989130 58992418 0.75 [{'connected_gene': 'NELFCD', 'score': 47.46}, {'connected_gene': 'ATP5F1E', 'score': 11.76}, {'connected_gene': 'PRELID3B', 'score': 11.72}, {'connected_gene': 'LOC101927932', 'score': 11.28}, {'connected_gene': 'GNAS', 'score': 11.23}, {'connected_gene': 'CTSZ', 'score': 9.41}, {'connected_gene': 'GC20M058985', 'score': 0.77}]
chr20 GH20I059027 59027462 59028002 0.54 [{'connected_gene': 'NELFCD', 'score': 5.86}, {'connected_gene': 'ATP5F1E', 'score': 0.77}, {'connected_gene': 'TUBB1', 'score': 0.44}]
chr20 GH20I058998 58998955 59000001 0.59 [{'connected_gene': 'NELFCD', 'score': 30.41}, {'connected_gene': 'ATP5F1E', 'score': 11.7}, {'connected_gene': 'CTSZ', 'score': 10.1}, {'connected_gene': 'GC20M058985', 'score': 0.39}]
chr20 GH20I059014 59014035 59014911 1.11 [{'connected_gene': 'NELFCD', 'score': 21.18}, {'connected_gene': 'PRELID3B', 'score': 17.63}, {'connected_gene': 'TUBB1', 'score': 0.77}, {'connected_gene': 'CTSZ', 'score': 0.44}]
chr20 GH20I059010 59010120 59012199 1.57 [{'connected_gene': 'NELFCD', 'score': 31.45}, {'connected_gene': 'PRELID3B', 'score': 17.51}, {'connected_gene': 'LOC101927932', 'score': 11.14}, {'connected_gene': 'GNAS', 'score': 11.11}, {'connected_gene': 'CTSZ', 'score': 6.86}, {'connected_gene': 'TUBB1', 'score': 0.44}]
chr20 GH20I059022 59022520 59024891 0.52 [{'connected_gene': 'NELFCD', 'score': 18.46}, {'connected_gene': 'TUBB1', 'score': 0.77}, {'connected_gene': 'ATP5F1E', 'score': 0.44}]
chr20 GH20I058879 58879094 58880324 0.38 [{'connected_gene': 'NELFCD', 'score': 10.62}, {'connected_gene': 'GNAS-AS1', 'score': 10.42}, {'connected_gene': 'GNAS', 'score': 10.39}, {'connected_gene': 'ENSG00000270951', 'score': 0.77}, {'connected_gene': 'LOC101927932', 'score': 0.44}]
chr20 GH20I058881 58881344 58884221 1.04 [{'connected_gene': 'NELFCD', 'score': 10.63}, {'connected_gene': 'GNAS-AS1', 'score': 10.4}, {'connected_gene': 'GNAS', 'score': 10.37}, {'connected_gene': 'ENSG00000270951', 'score': 8.38}, {'connected_gene': 'LOC101927932', 'score': 0.44}]
chr20 GH20I058622 58622375 58625237 1.7 [{'connected_gene': 'NELFCD', 'score': 31.49}, {'connected_gene': 'LOC101927932', 'score': 21.05}, {'connected_gene': 'PPP4R1L', 'score': 20.94}, {'connected_gene': 'STX16', 'score': 15.1}, {'connected_gene': 'ENSG00000254419', 'score': 9.9}, {'connected_gene': 'PIR40957', 'score': 0.44}, {'connected_gene': 'ENSG00000254620', 'score': 0.31}]
chr20 GH20I058904 58904846 58910259 1.36 [{'connected_gene': 'NELFCD', 'score': 11.71}, {'connected_gene': 'GC20M058910', 'score': 0.77}, {'connected_gene': 'LOC101927932', 'score': 0.37}, {'connected_gene': 'GNAS', 'score': 0.2}]
chr20 GH20I058820 58820935 58830423 0.94 [{'connected_gene': 'NELFCD', 'score': 14.06}, {'connected_gene': 'ENSG00000270951', 'score': 12.92}, {'connected_gene': 'LOC101927932', 'score': 11.31}, {'connected_gene': 'GNAS-AS1', 'score': 7.16}, {'connected_gene': 'MIR298', 'score': 0.44}, {'connected_gene': 'ENSG00000268333', 'score': 0.39}]
chr20 GH20I058984 58984281 58985234 0.65 [{'connected_gene': 'NELFCD', 'score': 29.64}, {'connected_gene': 'GC20M058985', 'score': 0.77}]
chr20 GH20I058995 58995453 58996786 1.06 [{'connected_gene': 'ATP5F1E', 'score': 11.68}, {'connected_gene': 'NELFCD', 'score': 10.6}, {'connected_gene': 'CTSZ', 'score': 9.55}, {'connected_gene': 'GC20M058985', 'score': 0.44}]
chr20 GH20I058993 58993666 58993795 0.77 [{'connected_gene': 'ATP5F1E', 'score': 11.68}, {'connected_gene': 'GC20M058985', 'score': 0.44}, {'connected_gene': 'NELFCD', 'score': 0.39}, {'connected_gene': 'CTSZ', 'score': 0.39}]
chr20 GH20I059002 59002726 59002875 0.58 [{'connected_gene': 'ATP5F1E', 'score': 11.72}, {'connected_gene': 'NELFCD', 'score': 5.3}, {'connected_gene': 'CTSZ', 'score': 0.77}, {'connected_gene': 'GC20M058985', 'score': 0.37}]
chr20 GH20I059030 59030918 59033457 2.09 [{'connected_gene': 'ATP5F1E', 'score': 550.77}, {'connected_gene': 'NELFCD', 'score': 36.49}, {'connected_gene': 'LOC101927932', 'score': 24.01}, {'connected_gene': 'PPP4R1L', 'score': 12.81}, {'connected_gene': 'STX16', 'score': 11.8}, {'connected_gene': 'ENSG00000254419', 'score': 10.48}, {'connected_gene': 'PRELID3B', 'score': 10.43}, {'connected_gene': 'SLMO2-ATP5E', 'score': 0.39}, {'connected_gene': 'TUBB1', 'score': 0.39}]
chr20 GH20I059039 59039791 59044579 2.24 [{'connected_gene': 'PRELID3B', 'score': 557.51}, {'connected_gene': 'SLMO2-ATP5E', 'score': 550.77}, {'connected_gene': 'NELFCD', 'score': 34.56}, {'connected_gene': 'PPP4R1L', 'score': 12.69}, {'connected_gene': 'ZNF831', 'score': 11.19}, {'connected_gene': 'LOC101927932', 'score': 10.87}, {'connected_gene': 'GNAS', 'score': 10.84}, {'connected_gene': 'ENSG00000254419', 'score': 9.79}, {'connected_gene': 'ATP5F1E', 'score': 0.44}]
chr20 GH20I058903 58903219 58903972 0.46 [{'connected_gene': 'GNAS', 'score': 6.73}, {'connected_gene': 'NELFCD', 'score': 4.64}, {'connected_gene': 'GC20M058910', 'score': 0.44}, {'connected_gene': 'LOC101927932', 'score': 0.39}]
chr20 GH20I058887 58887928 58897183 2.24 [{'connected_gene': 'GNAS', 'score': 550.23}, {'connected_gene': 'LOC101927932', 'score': 11.21}, {'connected_gene': 'NELFCD', 'score': 11.04}, {'connected_gene': 'PPP4R1L', 'score': 9.74}, {'connected_gene': 'ENSG00000270951', 'score': 8.72}, {'connected_gene': 'GC20M058910', 'score': 0.37}]
chr20 GH20I059003 59003026 59009077 2.2 [{'connected_gene': 'CTSZ', 'score': 563.78}, {'connected_gene': 'NELFCD', 'score': 31.71}, {'connected_gene': 'ATP5F1E', 'score': 12.7}, {'connected_gene': 'LOC101927932', 'score': 11.6}, {'connected_gene': 'GNAS', 'score': 11.57}, {'connected_gene': 'GC20M058985', 'score': 0.37}]
chr20 GH20I059144 59144338 59145293 0.63 [{'connected_gene': 'ZNF831', 'score': 12.01}, {'connected_gene': 'NELFCD', 'score': 10.83}, {'connected_gene': 'EDN3', 'score': 0.1}]
chr20 GH20I059047 59047453 59048953 1.15 [{'connected_gene': 'ZNF831', 'score': 11.19}, {'connected_gene': 'NELFCD', 'score': 10.96}, {'connected_gene': 'LOC101927932', 'score': 10.67}, {'connected_gene': 'GNAS', 'score': 10.65}, {'connected_gene': 'PRELID3B', 'score': 5.5}, {'connected_gene': 'MRPS16P2', 'score': 0.21}]
chr20 GH20I059933 59933400 59934755 1.97 [{'connected_gene': 'SYCP2', 'score': 550.77}, {'connected_gene': 'FAM217B', 'score': 550.77}, {'connected_gene': 'NELFCD', 'score': 14.58}, {'connected_gene': 'PPP1R3D', 'score': 0.44}]
chr20 GH20I058248 58248145 58248214 0.75 [{'connected_gene': 'LOC101927932', 'score': 58.79}, {'connected_gene': 'NELFCD', 'score': 42.86}, {'connected_gene': 'STX16', 'score': 21.09}, {'connected_gene': 'PPP4R1L', 'score': 14.03}, {'connected_gene': 'ENSG00000254419', 'score': 12.6}, {'connected_gene': 'ENSG00000270951', 'score': 11.01}, {'connected_gene': 'NPEPL1', 'score': 10.04}, {'connected_gene': 'ANKRD60', 'score': 0.37}]
chr20 GH20I059012 59012270 59012648 1.15 [{'connected_gene': 'LOC101927932', 'score': 14.98}, {'connected_gene': 'NELFCD', 'score': 12.55}, {'connected_gene': 'PRELID3B', 'score': 11.49}, {'connected_gene': 'TUBB1', 'score': 0.44}, {'connected_gene': 'CTSZ', 'score': 0.44}]
chr20 GH20I058250 58250897 58253198 1.24 [{'connected_gene': 'LOC101927932', 'score': 14.89}, {'connected_gene': 'NELFCD', 'score': 12.29}, {'connected_gene': 'ANKRD60', 'score': 5.41}, {'connected_gene': 'PPP4R1L', 'score': 5.05}]
chr20 GH20I059402 59402393 59406964 1.07 [{'connected_gene': 'LOC101927932', 'score': 13.27}, {'connected_gene': 'NELFCD', 'score': 10.97}, {'connected_gene': 'ENSG00000230352', 'score': 0.28}, {'connected_gene': 'PIEZO1P1', 'score': 0.22}]
chr20 GH20I059825 59825913 59827677 1.24 [{'connected_gene': 'LOC101927932', 'score': 13.46}, {'connected_gene': 'NELFCD', 'score': 10.69}, {'connected_gene': 'RNU7-141P', 'score': 0.31}, {'connected_gene': 'LOC100506384', 'score': 0.08}, {'connected_gene': 'PHACTR3', 'score': 0.07}]
chr20 GH20I059686 59686844 59691542 0.88 [{'connected_gene': 'LOC101927932', 'score': 98.98}, {'connected_gene': 'NELFCD', 'score': 82.07}, {'connected_gene': 'ENSG00000270951', 'score': 22.7}, {'connected_gene': 'ENSG00000254419', 'score': 12.58}, {'connected_gene': 'LOC100506384', 'score': 11.38}, {'connected_gene': 'PHACTR3', 'score': 11.31}, {'connected_gene': 'ENSG00000268649', 'score': 9.8}, {'connected_gene': 'RNU7-141P', 'score': 0.1}]
chr20 GH20I058871 58871304 58874395 0.72 [{'connected_gene': 'ENSG00000254419', 'score': 19.15}, {'connected_gene': 'PPP4R1L', 'score': 12.69}, {'connected_gene': 'GNAS', 'score': 12.64}, {'connected_gene': 'NELFCD', 'score': 11.02}, {'connected_gene': 'GNAS-AS1', 'score': 10.45}, {'connected_gene': 'ENSG00000270951', 'score': 0.77}, {'connected_gene': 'LOC101927932', 'score': 0.37}]
chr20 GH20I058349 58349705 58349854 0.63 [{'connected_gene': 'PIR40663', 'score': 550.77}, {'connected_gene': 'NELFCD', 'score': 9.75}, {'connected_gene': 'RAB22A', 'score': 0.26}]
chr20 GH20I058987 58987820 58989115 0.49 [{'connected_gene': 'GC20M058985', 'score': 550.77}, {'connected_gene': 'NELFCD', 'score': 30.28}, {'connected_gene': 'ATP5F1E', 'score': 11.76}, {'connected_gene': 'CTSZ', 'score': 0.37}]
chr20 GH20I058875 58875047 58876251 0.54 [{'connected_gene': 'ENSG00000270951', 'score': 550.77}, {'connected_gene': 'NELFCD', 'score': 10.62}, {'connected_gene': 'GNAS-AS1', 'score': 10.45}, {'connected_gene': 'GNAS', 'score': 10.39}, {'connected_gene': 'LOC101927932', 'score': 0.39}]
chr20 GH20I058876 58876691 58878689 0.8 [{'connected_gene': 'ENSG00000270951', 'score': 550.77}, {'connected_gene': 'NELFCD', 'score': 10.62}, {'connected_gene': 'GNAS-AS1', 'score': 10.42}, {'connected_gene': 'GNAS', 'score': 10.39}, {'connected_gene': 'LOC101927932', 'score': 0.39}]
chr20 GH20I058986 58986666 58986815 0.58 [{'connected_gene': 'GC20M058985', 'score': 550.77}, {'connected_gene': 'NELFCD', 'score': 0.44}]
chr20 GH20I058595 58595940 58598877 0.66 [{'connected_gene': 'ENSG00000270951', 'score': 12.75}, {'connected_gene': 'LOC101927932', 'score': 11.16}, {'connected_gene': 'NELFCD', 'score': 10.19}, {'connected_gene': 'ENSG00000254620', 'score': 0.77}, {'connected_gene': 'PIR40957', 'score': 0.28}, {'connected_gene': 'APCDD1L-AS1', 'score': 0.18}]

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