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
ENST00000359320 [[23846016, 23846586], [23847557, 23847710], [23848239, 23848332], [23848507, 23848592], [23848682, 23848981]] [[23846460, 23846586], [23847557, 23847710], [23848239, 23848332], [23848507, 23848592], [23848682, 23848696]]
ENST00000339180 [[23846244, 23846586], [23847557, 23847710], [23847877, 23848078], [23848239, 23848332], [23848507, 23848592], [23848682, 23848981]] [[23846460, 23846586], [23847557, 23847710], [23847877, 23848078], [23848239, 23848332], [23848507, 23848592], [23848682, 23848696]]
ENST00000342473 [[23846245, 23846586], [23848507, 23848592], [23848682, 23848981]] [[23846460, 23846586], [23848507, 23848592], [23848682, 23848696]]
ENST00000397227 [[23846245, 23846586], [23848239, 23848332], [23848507, 23848592], [23848682, 23848981]] [[23846460, 23846586], [23848239, 23848332], [23848507, 23848592], [23848682, 23848696]]
ENST00000553750 [[23846255, 23847710], [23848239, 23848332], [23848507, 23848592], [23848682, 23848980]] None
ENST00000555731 [[23846271, 23846586], [23847671, 23847710], [23848239, 23848332], [23848507, 23848592], [23848682, 23848981]] [[23846460, 23846586], [23847671, 23847710], [23848239, 23848332], [23848507, 23848592], [23848682, 23848696]]
ENST00000382809 [[23846460, 23846586], [23847557, 23847710], [23848507, 23848592], [23848682, 23848696]] [[23846460, 23846586], [23847557, 23847710], [23848507, 23848592], [23848682, 23848696]]
ENST00000555487 [[23847127, 23848592], [23848682, 23848981]] None
NM_001288745 [[23846016, 23846586], [23848507, 23848592], [23848682, 23848981]] [[23846460, 23846586], [23848507, 23848592], [23848682, 23848696]]
NM_001288744 [[23846016, 23846586], [23848239, 23848332], [23848507, 23848592], [23848682, 23848981]] [[23846460, 23846586], [23848239, 23848332], [23848507, 23848592], [23848682, 23848696]]
NM_001037288 [[23846016, 23846586], [23847557, 23847710], [23848507, 23848592], [23848682, 23848981]] [[23846460, 23846586], [23847557, 23847710], [23848507, 23848592], [23848682, 23848696]]
NM_138460 [[23846016, 23846586], [23847557, 23847710], [23848239, 23848332], [23848507, 23848592], [23848682, 23848981]] [[23846460, 23846586], [23847557, 23847710], [23848239, 23848332], [23848507, 23848592], [23848682, 23848696]]
NM_001288746 [[23846016, 23846586], [23847557, 23847710], [23847877, 23848078], [23848239, 23848332], [23848507, 23848592], [23848682, 23848981]] [[23846460, 23846586], [23847557, 23847710], [23847877, 23848078], [23848239, 23848332], [23848507, 23848592], [23848682, 23848696]]
Promoter
Chrom Start End Description
chr14 23845971 23845990 CAGE_peak_5_at_CMTM5_5end
chr14 23845995 23846007 CAGE_peak_8_at_CMTM5_5end
chr14 23846027 23846042 CAGE_peak_7_at_CMTM5_5end
chr14 23846210 23846267 CAGE_peak_1_at_CMTM5_5end
chr14 23846284 23846291 CAGE_peak_4_at_CMTM5_5end
chr14 23846300 23846316 CAGE_peak_3_at_CMTM5_5end
chr14 23846321 23846326 CAGE_peak_6_at_CMTM5_5end
chr14 23846328 23846344 CAGE_peak_2_at_CMTM5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I023536 23536306 23540137 1.42 [{'connected_gene': 'AP1G2', 'score': 24.46}, {'connected_gene': 'THTPA', 'score': 11.78}, {'connected_gene': 'MYH6', 'score': 10.17}, {'connected_gene': 'ZFHX2', 'score': 5.62}, {'connected_gene': 'JPH4', 'score': 3.65}, {'connected_gene': 'CMTM5', 'score': 2.93}, {'connected_gene': 'SLC22A17', 'score': 2.23}, {'connected_gene': 'DHRS4L2', 'score': 1.54}, {'connected_gene': 'ENSG00000273618', 'score': 0.44}, {'connected_gene': 'ZFHX2-AS1', 'score': 0.31}]
chr14 GH14I023278 23278028 23278803 0.69 [{'connected_gene': 'PABPN1', 'score': 11.53}, {'connected_gene': 'BCL2L2', 'score': 11.03}, {'connected_gene': 'CMTM5', 'score': 10.47}, {'connected_gene': 'MIR208B', 'score': 10.01}, {'connected_gene': 'ACIN1', 'score': 9.5}, {'connected_gene': 'ZFHX2-AS1', 'score': 9.35}, {'connected_gene': 'ZFHX2', 'score': 9.34}, {'connected_gene': 'HOMEZ', 'score': 5.62}, {'connected_gene': 'PIR53909', 'score': 0.44}, {'connected_gene': 'HMGN2P1', 'score': 0.39}]
chr14 GH14I023277 23277592 23277771 0.2 [{'connected_gene': 'PABPN1', 'score': 11.53}, {'connected_gene': 'BCL2L2', 'score': 11.03}, {'connected_gene': 'CMTM5', 'score': 10.47}, {'connected_gene': 'MIR208B', 'score': 10.0}, {'connected_gene': 'ACIN1', 'score': 9.5}, {'connected_gene': 'ZFHX2-AS1', 'score': 9.35}, {'connected_gene': 'ZFHX2', 'score': 9.34}, {'connected_gene': 'PIR53909', 'score': 0.44}, {'connected_gene': 'HMGN2P1', 'score': 0.39}, {'connected_gene': 'HOMEZ', 'score': 0.34}]
chr14 GH14I023276 23276833 23277387 0.2 [{'connected_gene': 'PABPN1', 'score': 11.53}, {'connected_gene': 'BCL2L2', 'score': 11.03}, {'connected_gene': 'CMTM5', 'score': 10.47}, {'connected_gene': 'MIR208B', 'score': 10.0}, {'connected_gene': 'ACIN1', 'score': 9.5}, {'connected_gene': 'ZFHX2-AS1', 'score': 9.35}, {'connected_gene': 'ZFHX2', 'score': 9.34}, {'connected_gene': 'PIR53909', 'score': 0.44}, {'connected_gene': 'HMGN2P1', 'score': 0.39}, {'connected_gene': 'HOMEZ', 'score': 0.34}]
chr14 GH14I023279 23279527 23281646 1.13 [{'connected_gene': 'PABPN1', 'score': 11.54}, {'connected_gene': 'CMTM5', 'score': 10.47}, {'connected_gene': 'MIR208B', 'score': 10.01}, {'connected_gene': 'ACIN1', 'score': 9.5}, {'connected_gene': 'ZFHX2-AS1', 'score': 9.35}, {'connected_gene': 'ZFHX2', 'score': 9.34}, {'connected_gene': 'HOMEZ', 'score': 7.16}, {'connected_gene': 'PIR53909', 'score': 0.44}, {'connected_gene': 'HMGN2P1', 'score': 0.37}]
chr14 GH14I023056 23056110 23059083 2.1 [{'connected_gene': 'CDH24', 'score': 558.74}, {'connected_gene': 'LOC105370705', 'score': 550.77}, {'connected_gene': 'ACIN1', 'score': 75.23}, {'connected_gene': 'NGDN', 'score': 72.91}, {'connected_gene': 'RBM23', 'score': 33.99}, {'connected_gene': 'PRMT5', 'score': 29.91}, {'connected_gene': 'PABPN1', 'score': 22.38}, {'connected_gene': 'MMP14', 'score': 22.0}, {'connected_gene': 'SLC22A17', 'score': 21.65}, {'connected_gene': 'LOC102724814', 'score': 20.93}, {'connected_gene': 'C14orf93', 'score': 20.82}, {'connected_gene': 'JPH4', 'score': 12.72}, {'connected_gene': 'HAUS4', 'score': 11.94}, {'connected_gene': 'BCL2L2-PABPN1', 'score': 10.87}, {'connected_gene': 'OXA1L', 'score': 10.49}, {'connected_gene': 'CMTM5', 'score': 10.47}, {'connected_gene': 'SLC7A8', 'score': 10.23}, {'connected_gene': 'BCL2L2', 'score': 10.03}, {'connected_gene': 'HOMEZ', 'score': 9.9}, {'connected_gene': 'LRP10', 'score': 9.77}]
chr14 GH14I023250 23250712 23253329 0.54 [{'connected_gene': 'BCL2L2', 'score': 11.28}, {'connected_gene': 'HOMEZ', 'score': 11.28}, {'connected_gene': 'PPP1R3E', 'score': 11.26}, {'connected_gene': 'CMTM5', 'score': 10.91}, {'connected_gene': 'CEBPE', 'score': 10.69}, {'connected_gene': 'IL25', 'score': 10.66}, {'connected_gene': 'RNF212B', 'score': 10.59}, {'connected_gene': 'SLC7A8', 'score': 10.59}, {'connected_gene': 'SLC22A17', 'score': 10.55}, {'connected_gene': 'MYH6', 'score': 10.45}, {'connected_gene': 'EFS', 'score': 10.39}, {'connected_gene': 'MIR208B', 'score': 10.2}, {'connected_gene': 'RNU6-1138P', 'score': 10.08}, {'connected_gene': 'MYH7', 'score': 9.63}, {'connected_gene': 'RNU6-1046P', 'score': 0.44}, {'connected_gene': 'RPL39P2', 'score': 0.34}]
chr14 GH14I023284 23284045 23287456 2.26 [{'connected_gene': 'HOMEZ', 'score': 578.17}, {'connected_gene': 'PIR53909', 'score': 550.77}, {'connected_gene': 'ACIN1', 'score': 28.77}, {'connected_gene': 'PRMT5', 'score': 22.23}, {'connected_gene': 'IPO4', 'score': 21.48}, {'connected_gene': 'THTPA', 'score': 19.24}, {'connected_gene': 'TSSK4', 'score': 15.5}, {'connected_gene': 'NGDN', 'score': 14.54}, {'connected_gene': 'PABPN1', 'score': 11.56}, {'connected_gene': 'PRMT5-AS1', 'score': 11.47}, {'connected_gene': 'RNF31', 'score': 11.02}, {'connected_gene': 'CMTM5', 'score': 10.47}, {'connected_gene': 'MIR208B', 'score': 10.01}, {'connected_gene': 'ZFHX2-AS1', 'score': 9.92}, {'connected_gene': 'ZFHX2', 'score': 9.91}, {'connected_gene': 'HMGN2P1', 'score': 0.34}]
chr14 GH14I023328 23328132 23328281 0.8 [{'connected_gene': 'SLC22A17', 'score': 11.35}, {'connected_gene': 'EFS', 'score': 11.29}, {'connected_gene': 'CMTM5', 'score': 11.18}, {'connected_gene': 'PPP1R3E', 'score': 11.18}, {'connected_gene': 'BCL2L2', 'score': 11.18}, {'connected_gene': 'HOMEZ', 'score': 11.18}, {'connected_gene': 'MIR208A', 'score': 10.92}, {'connected_gene': 'IL25', 'score': 10.56}, {'connected_gene': 'MYH6', 'score': 10.48}, {'connected_gene': 'MIR208B', 'score': 10.13}, {'connected_gene': 'ZFHX2-AS1', 'score': 10.0}, {'connected_gene': 'ZFHX2', 'score': 9.99}, {'connected_gene': 'PABPN1', 'score': 0.44}, {'connected_gene': 'GC14P024187', 'score': 0.39}]
chr14 GH14I023378 23378458 23381621 1.07 [{'connected_gene': 'MYH6', 'score': 11.71}, {'connected_gene': 'SLC22A17', 'score': 11.44}, {'connected_gene': 'MIR208B', 'score': 11.0}, {'connected_gene': 'PPP1R3E', 'score': 10.44}, {'connected_gene': 'BCL2L2', 'score': 10.43}, {'connected_gene': 'HOMEZ', 'score': 10.43}, {'connected_gene': 'DHRS4-AS1', 'score': 4.85}, {'connected_gene': 'CMTM5', 'score': 0.77}, {'connected_gene': 'MIR208A', 'score': 0.44}]
chr14 GH14I023453 23453463 23455309 0.91 [{'connected_gene': 'MYH6', 'score': 11.14}, {'connected_gene': 'MIR208B', 'score': 10.81}, {'connected_gene': 'SLC22A17', 'score': 10.72}, {'connected_gene': 'MIR208A', 'score': 10.51}, {'connected_gene': 'ZFHX2-AS1', 'score': 10.4}, {'connected_gene': 'ZFHX2', 'score': 10.33}, {'connected_gene': 'BCL2L2', 'score': 9.94}, {'connected_gene': 'CMTM5', 'score': 9.82}, {'connected_gene': 'IL25', 'score': 9.81}, {'connected_gene': 'PPP1R3E', 'score': 9.75}, {'connected_gene': 'HOMEZ', 'score': 9.75}, {'connected_gene': 'NGDN', 'score': 6.88}, {'connected_gene': 'PABPN1', 'score': 5.0}, {'connected_gene': 'MYH7', 'score': 0.37}]
chr14 GH14I023442 23442285 23444220 1.29 [{'connected_gene': 'MYH6', 'score': 27.81}, {'connected_gene': 'MIR208B', 'score': 11.35}, {'connected_gene': 'CMTM5', 'score': 10.77}, {'connected_gene': 'IL25', 'score': 10.75}, {'connected_gene': 'SLC22A17', 'score': 10.69}, {'connected_gene': 'MIR208A', 'score': 10.51}, {'connected_gene': 'MYH7', 'score': 6.53}, {'connected_gene': 'NGDN', 'score': 0.31}]
chr14 GH14I023140 23140591 23143520 1.16 [{'connected_gene': 'SLC7A8', 'score': 14.37}, {'connected_gene': 'RNF212B', 'score': 11.63}, {'connected_gene': 'CEBPE', 'score': 11.56}, {'connected_gene': 'ACIN1', 'score': 10.97}, {'connected_gene': 'SLC22A17', 'score': 9.93}, {'connected_gene': 'C14orf93', 'score': 9.44}, {'connected_gene': 'CMTM5', 'score': 9.4}, {'connected_gene': 'IL25', 'score': 9.4}, {'connected_gene': 'DHRS4-AS1', 'score': 7.46}, {'connected_gene': 'RNU6-1138P', 'score': 0.39}]
chr14 GH14I023148 23148491 23149330 0.51 [{'connected_gene': 'SLC7A8', 'score': 11.66}, {'connected_gene': 'RNF212B', 'score': 11.64}, {'connected_gene': 'CEBPE', 'score': 11.53}, {'connected_gene': 'ACIN1', 'score': 10.51}, {'connected_gene': 'SLC22A17', 'score': 10.13}, {'connected_gene': 'CMTM5', 'score': 9.38}, {'connected_gene': 'IL25', 'score': 9.38}, {'connected_gene': 'C14orf93', 'score': 8.87}, {'connected_gene': 'RNU6-1138P', 'score': 0.44}]
chr14 GH14I023544 23544279 23546314 1.41 [{'connected_gene': 'ACIN1', 'score': 32.53}, {'connected_gene': 'KHNYN', 'score': 29.6}, {'connected_gene': 'NGDN', 'score': 27.39}, {'connected_gene': 'RNF31', 'score': 24.66}, {'connected_gene': 'RNA5SP383', 'score': 24.26}, {'connected_gene': 'PRMT5', 'score': 22.28}, {'connected_gene': 'RBM23', 'score': 20.62}, {'connected_gene': 'PRMT5-AS1', 'score': 17.6}, {'connected_gene': 'TSSK4', 'score': 14.36}, {'connected_gene': 'TM9SF1', 'score': 14.36}, {'connected_gene': 'NYNRIN', 'score': 13.33}, {'connected_gene': 'LOC102724814', 'score': 13.29}, {'connected_gene': 'TINF2', 'score': 13.17}, {'connected_gene': 'CIDEB', 'score': 12.88}, {'connected_gene': 'SLC7A8', 'score': 11.86}, {'connected_gene': 'HAUS4', 'score': 11.82}, {'connected_gene': 'C14orf93', 'score': 11.72}, {'connected_gene': 'SDR39U1', 'score': 10.87}, {'connected_gene': 'MMP14', 'score': 10.64}, {'connected_gene': 'PABPN1', 'score': 10.42}, {'connected_gene': 'ENSG00000259321', 'score': 10.09}, {'connected_gene': 'NOP9', 'score': 9.99}, {'connected_gene': 'NFATC4', 'score': 9.96}, {'connected_gene': 'IPO4', 'score': 9.77}, {'connected_gene': 'AP1G2', 'score': 9.57}, {'connected_gene': 'JPH4', 'score': 7.13}, {'connected_gene': 'ZFHX2', 'score': 5.8}, {'connected_gene': 'SLC22A17', 'score': 5.0}, {'connected_gene': 'CMTM5', 'score': 2.48}, {'connected_gene': 'DHRS4L2', 'score': 2.16}, {'connected_gene': 'BCL2L2', 'score': 1.71}, {'connected_gene': 'THTPA', 'score': 1.45}, {'connected_gene': 'ENSG00000273618', 'score': 0.39}, {'connected_gene': 'ZFHX2-AS1', 'score': 0.29}]
chr14 GH14I023376 23376514 23377056 0.88 [{'connected_gene': 'CMTM5', 'score': 550.77}, {'connected_gene': 'IL25', 'score': 0.77}]
chr14 GH14I023379 23377397 23377642 0.31 [{'connected_gene': 'CMTM5', 'score': 550.77}, {'connected_gene': 'MYH6', 'score': 11.7}, {'connected_gene': 'SLC22A17', 'score': 11.47}, {'connected_gene': 'MIR208B', 'score': 10.98}, {'connected_gene': 'PPP1R3E', 'score': 10.45}, {'connected_gene': 'BCL2L2', 'score': 10.44}, {'connected_gene': 'HOMEZ', 'score': 10.44}, {'connected_gene': 'MIR208A', 'score': 0.39}]
chr14 GH14I023377 23377247 23377306 0.61 [{'connected_gene': 'CMTM5', 'score': 550.77}, {'connected_gene': 'MIR208A', 'score': 0.39}]
chr14 GH14I023159 23159877 23165041 1.39 [{'connected_gene': 'CMTM5', 'score': 10.49}, {'connected_gene': 'ACIN1', 'score': 10.16}, {'connected_gene': 'RNF31', 'score': 9.82}, {'connected_gene': 'PSMB5', 'score': 5.26}, {'connected_gene': 'DHRS4L1', 'score': 4.66}, {'connected_gene': 'DHRS4L2', 'score': 4.47}, {'connected_gene': 'RNU6-1138P', 'score': 0.44}, {'connected_gene': 'SLC7A8', 'score': 0.34}]
chr14 GH14I023445 23445509 23448631 0.66 [{'connected_gene': 'MIR208B', 'score': 11.25}, {'connected_gene': 'MYH6', 'score': 11.03}, {'connected_gene': 'SLC22A17', 'score': 10.7}, {'connected_gene': 'MIR208A', 'score': 10.46}, {'connected_gene': 'ZFHX2-AS1', 'score': 10.45}, {'connected_gene': 'ZFHX2', 'score': 10.38}, {'connected_gene': 'CMTM5', 'score': 10.29}, {'connected_gene': 'NGDN', 'score': 6.66}, {'connected_gene': 'MYH7', 'score': 0.39}]

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