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
ENST00000288774 [[2336235, 2337273], [2337922, 2338058], [2338158, 2338394], [2339890, 2340297], [2341809, 2341890], [2343829, 2343969]] [[2337204, 2337273], [2337922, 2338058], [2338158, 2338394], [2339890, 2340297], [2341809, 2341890], [2343829, 2343941]]
ENST00000447513 [[2336257, 2337273], [2337922, 2338058], [2338158, 2338334], [2339890, 2340297], [2341809, 2341890], [2343829, 2344010]] [[2337204, 2337273], [2337922, 2338058], [2338158, 2338334], [2339890, 2340297], [2341809, 2341890], [2343829, 2343941]]
ENST00000507596 [[2336276, 2337267], [2337922, 2338058], [2338158, 2338334], [2339890, 2340297], [2341809, 2341890], [2343829, 2343979]] [[2337204, 2337267], [2337922, 2338058], [2338158, 2338334], [2339890, 2340297], [2341809, 2341890], [2343829, 2343941]]
ENST00000510434 [[2337956, 2338058], [2338158, 2338334], [2339894, 2340297], [2341809, 2341890], [2343829, 2343974]] [[2338300, 2338334], [2339894, 2340297], [2341809, 2341890], [2343829, 2343941]]
ENST00000508384 [[2339968, 2340297], [2341809, 2341890], [2345035, 2345236]] [[2339968, 2340058]]
ENST00000515760 [[2340021, 2340297], [2341116, 2341443]] None
ENST00000502666 [[2340042, 2340297], [2341699, 2341890], [2342068, 2342275]] [[2342197, 2342275]]
ENST00000504111 [[2340073, 2340297], [2341809, 2341890], [2342068, 2342312]] None
ENST00000514502 [[2340193, 2340297], [2341809, 2341890], [2342068, 2342307], [2343829, 2343953]] [[2342197, 2342307], [2343829, 2343941]]
NM_153818 [[2336240, 2337273], [2337922, 2338058], [2338158, 2338394], [2339890, 2340297], [2341809, 2341890], [2343829, 2344010]] [[2337204, 2337273], [2337922, 2338058], [2338158, 2338394], [2339890, 2340297], [2341809, 2341890], [2343829, 2343941]]
NM_002617 [[2336240, 2337273], [2337922, 2338058], [2338158, 2338334], [2339890, 2340297], [2341809, 2341890], [2343829, 2344010]] [[2337204, 2337273], [2337922, 2338058], [2338158, 2338334], [2339890, 2340297], [2341809, 2341890], [2343829, 2343941]]
Promoter
Chrom Start End Description
chr1 2343951 2344018 CAGE_peak_1_at_PEX10_5end
chr1 2345239 2345255 CAGE_peak_3_at_PEX10_5end
chr1 2345260 2345297 CAGE_peak_2_at_PEX10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I002411 2411555 2417307 2.44 [{'connected_gene': 'PLCH2', 'score': 569.09}, {'connected_gene': 'PEX10', 'score': 555.54}, {'connected_gene': 'MORN1', 'score': 18.61}, {'connected_gene': 'LOC100129381', 'score': 13.27}, {'connected_gene': 'LOC100129534', 'score': 12.56}, {'connected_gene': 'SLC35E2', 'score': 11.58}, {'connected_gene': 'FAAP20', 'score': 11.22}, {'connected_gene': 'MIB2', 'score': 11.19}, {'connected_gene': 'ATAD3B', 'score': 10.65}, {'connected_gene': 'SLC35E2B', 'score': 9.87}, {'connected_gene': 'LOC100288379', 'score': 4.57}, {'connected_gene': 'ATAD3C', 'score': 4.49}]
chr1 GH01I002197 2197421 2200256 1.86 [{'connected_gene': 'CCNL2', 'score': 15.09}, {'connected_gene': 'LOC100288379', 'score': 13.47}, {'connected_gene': 'CDK11A', 'score': 13.47}, {'connected_gene': 'SKI', 'score': 12.47}, {'connected_gene': 'RER1', 'score': 12.08}, {'connected_gene': 'MORN1', 'score': 12.08}, {'connected_gene': 'SDF4', 'score': 11.53}, {'connected_gene': 'PEX10', 'score': 11.25}, {'connected_gene': 'INTS11', 'score': 11.07}, {'connected_gene': 'ENSG00000240731', 'score': 10.99}, {'connected_gene': 'MXRA8', 'score': 10.69}, {'connected_gene': 'ATAD3B', 'score': 10.54}, {'connected_gene': 'LOC105378593', 'score': 0.44}, {'connected_gene': 'PRKCZ-AS1', 'score': 0.39}, {'connected_gene': 'FAAP20', 'score': 0.39}]
chr1 GH01I003218 3218100 3223778 1.42 [{'connected_gene': 'MORN1', 'score': 14.93}, {'connected_gene': 'TP73-AS1', 'score': 13.18}, {'connected_gene': 'LOC100129534', 'score': 11.8}, {'connected_gene': 'PEX10', 'score': 4.76}, {'connected_gene': 'PRDM16', 'score': 2.35}, {'connected_gene': 'ARHGEF16', 'score': 1.56}, {'connected_gene': 'LOC105378605', 'score': 0.44}, {'connected_gene': 'PIR41593', 'score': 0.37}, {'connected_gene': 'GC01P003241', 'score': 0.37}]
chr1 GH01I003217 3217327 3217719 0.48 [{'connected_gene': 'PEX10', 'score': 4.75}, {'connected_gene': 'PRDM16', 'score': 1.72}, {'connected_gene': 'LOC105378605', 'score': 0.77}, {'connected_gene': 'PIR41593', 'score': 0.34}, {'connected_gene': 'GC01P003241', 'score': 0.34}]
chr1 GH01I002408 2408293 2411265 0.49 [{'connected_gene': 'PEX10', 'score': 9.18}, {'connected_gene': 'LOC100129534', 'score': 6.59}, {'connected_gene': 'PIR43593', 'score': 0.44}]
chr1 GH01I002191 2191776 2196541 2.43 [{'connected_gene': 'FAAP20', 'score': 558.84}, {'connected_gene': 'SKI', 'score': 12.44}, {'connected_gene': 'RER1', 'score': 12.07}, {'connected_gene': 'MORN1', 'score': 12.07}, {'connected_gene': 'PEX10', 'score': 11.84}, {'connected_gene': 'PRKCZ-AS1', 'score': 10.01}, {'connected_gene': 'ENSG00000271806', 'score': 5.31}, {'connected_gene': 'LOC105378593', 'score': 0.39}]
chr1 GH01I002389 2389860 2396389 2.24 [{'connected_gene': 'RER1', 'score': 564.75}, {'connected_gene': 'MORN1', 'score': 550.77}, {'connected_gene': 'CDK11A', 'score': 20.14}, {'connected_gene': 'LOC100288379', 'score': 14.9}, {'connected_gene': 'ATAD3B', 'score': 12.8}, {'connected_gene': 'CCNL2', 'score': 12.57}, {'connected_gene': 'SLC35E2', 'score': 11.65}, {'connected_gene': 'CDK11B', 'score': 11.07}, {'connected_gene': 'TNFRSF14', 'score': 11.01}, {'connected_gene': 'LOC100129381', 'score': 10.42}, {'connected_gene': 'LOC100129534', 'score': 10.08}, {'connected_gene': 'FAAP20', 'score': 10.08}, {'connected_gene': 'ENSG00000225931', 'score': 9.95}, {'connected_gene': 'ENSG00000272455', 'score': 9.78}, {'connected_gene': 'PEX10', 'score': 9.56}, {'connected_gene': 'ENSG00000226286', 'score': 4.88}, {'connected_gene': 'GC01M002393', 'score': 0.44}]
chr1 GH01I002403 2403816 2407882 0.82 [{'connected_gene': 'PIR43593', 'score': 550.77}, {'connected_gene': 'PEX10', 'score': 10.53}, {'connected_gene': 'RER1', 'score': 7.11}]