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
ENST00000284240 [[119288089, 119290230], [119290760, 119291096], [119291578, 119291639], [119293822, 119294838]] [[119290117, 119290230], [119290760, 119291096], [119291578, 119291615]]
ENST00000584021 [[119289529, 119291956]] None
ENST00000528522 [[119289529, 119290230], [119290760, 119291096], [119291578, 119291639], [119292320, 119293272]] [[119290117, 119290230], [119290760, 119291096], [119291578, 119291615]]
ENST00000528295 [[119289782, 119290230], [119290760, 119291088], [119291578, 119291639], [119293822, 119293882]] [[119291011, 119291088], [119291578, 119291615]]
ENST00000524970 [[119290017, 119290141], [119290760, 119291096], [119291578, 119291639], [119293822, 119293882]] [[119290017, 119290141], [119290760, 119291096], [119291578, 119291615]]
ENST00000527590 [[119290017, 119290230], [119290760, 119291096], [119293822, 119293882]] None
ENST00000580275 [[119290084, 119290230], [119290760, 119291045], [119291578, 119291639], [119293822, 119293908]] [[119290117, 119290230], [119290760, 119291045], [119291578, 119291615]]
ENST00000524659 [[119290145, 119290230], [119290760, 119291096], [119291578, 119291639], [119295607, 119295695]] [[119290145, 119290230], [119290760, 119291096], [119291578, 119291615]]
ENST00000532974 [[119290174, 119290230], [119290760, 119291158], [119291578, 119291639], [119293822, 119293909]] None
ENST00000533840 [[119291118, 119291639], [119293822, 119293911]] None
NM_001311160 [[119288650, 119290230], [119290760, 119291096], [119291578, 119291639], [119292320, 119293272]] [[119290117, 119290230], [119290760, 119291096], [119291578, 119291615]]
NM_006288 [[119288650, 119290230], [119290760, 119291096], [119291578, 119291639], [119293822, 119294838]] [[119290117, 119290230], [119290760, 119291096], [119291578, 119291615]]
NM_001311162 [[119288650, 119290230], [119290760, 119291096], [119291578, 119291639], [119295607, 119295695]] [[119290117, 119290230], [119290760, 119291096], [119291578, 119291615]]
Promoter
Chrom Start End Description
chr11 119288974 119289019 CAGE_peak_6_at_THY1_5end
chr11 119289293 119289305 CAGE_peak_12_at_THY1_5end
chr11 119289379 119289398 CAGE_peak_7_at_THY1_5end
chr11 119289504 119289517 CAGE_peak_5_at_THY1_5end
chr11 119289671 119289701 CAGE_peak_10_at_THY1_5end
chr11 119289738 119289754 CAGE_peak_9_at_THY1_5end
chr11 119291603 119291653 CAGE_peak_4_at_THY1_5end
chr11 119293872 119293897 CAGE_peak_1_at_THY1_5end
chr11 119293903 119293917 CAGE_peak_2_at_THY1_5end
chr11 119294225 119294282 CAGE_peak_3_at_THY1_5end
chr11 119294624 119294630 CAGE_peak_13_at_THY1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I119360 119360106 119365873 2.16 [{'connected_gene': 'USP2', 'score': 558.95}, {'connected_gene': 'RNF26', 'score': 17.37}, {'connected_gene': 'ENSG00000245385', 'score': 12.54}, {'connected_gene': 'THY1', 'score': 10.72}, {'connected_gene': 'ABCG4', 'score': 10.39}, {'connected_gene': 'NLRX1', 'score': 10.36}, {'connected_gene': 'LOC101929089', 'score': 10.06}, {'connected_gene': 'GC11M119369', 'score': 0.44}, {'connected_gene': 'C1QTNF5', 'score': 0.37}, {'connected_gene': 'MFRP', 'score': 0.37}]
chr11 GH11I119374 119374251 119379776 1.89 [{'connected_gene': 'USP2', 'score': 561.6}, {'connected_gene': 'THY1', 'score': 21.97}, {'connected_gene': 'MFRP', 'score': 11.8}, {'connected_gene': 'C1QTNF5', 'score': 11.8}, {'connected_gene': 'ENSG00000254740', 'score': 0.77}]
chr11 GH11I119352 119352471 119353664 1.18 [{'connected_gene': 'USP2', 'score': 20.15}, {'connected_gene': 'IFT46', 'score': 14.64}, {'connected_gene': 'KMT2A', 'score': 13.16}, {'connected_gene': 'VPS11', 'score': 12.28}, {'connected_gene': 'RPL5P30', 'score': 12.27}, {'connected_gene': 'USP2-AS1', 'score': 12.2}, {'connected_gene': 'ENSG00000255121', 'score': 11.11}, {'connected_gene': 'THY1', 'score': 10.7}, {'connected_gene': 'NLRX1', 'score': 10.36}, {'connected_gene': 'C1QTNF5', 'score': 0.44}, {'connected_gene': 'MFRP', 'score': 0.44}, {'connected_gene': 'GC11M119369', 'score': 0.37}]
chr11 GH11I119356 119356201 119357615 1.23 [{'connected_gene': 'USP2', 'score': 18.28}, {'connected_gene': 'USP2-AS1', 'score': 12.23}, {'connected_gene': 'THY1', 'score': 10.71}, {'connected_gene': 'NLRX1', 'score': 10.36}, {'connected_gene': 'MFRP', 'score': 0.39}, {'connected_gene': 'C1QTNF5', 'score': 0.39}, {'connected_gene': 'GC11M119369', 'score': 0.39}]
chr11 GH11I119380 119380176 119382540 2.25 [{'connected_gene': 'USP2', 'score': 559.66}, {'connected_gene': 'USP2-AS1', 'score': 550.77}, {'connected_gene': 'THY1', 'score': 11.29}, {'connected_gene': 'ENSG00000254740', 'score': 0.44}]
chr11 GH11I119481 119481001 119482092 1.17 [{'connected_gene': 'MFRP', 'score': 11.21}, {'connected_gene': 'C1QTNF5', 'score': 11.21}, {'connected_gene': 'THY1', 'score': 9.83}, {'connected_gene': 'GC11P119503', 'score': 0.34}, {'connected_gene': 'GC11P119452', 'score': 0.31}, {'connected_gene': 'USP2-AS1', 'score': 0.15}]
chr11 GH11I119423 119423869 119425681 0.63 [{'connected_gene': 'THY1', 'score': 570.02}, {'connected_gene': 'USP2', 'score': 17.96}, {'connected_gene': 'USP2-AS1', 'score': 11.91}, {'connected_gene': 'ENSG00000254740', 'score': 11.88}, {'connected_gene': 'HINFP', 'score': 10.92}, {'connected_gene': 'C1QTNF5', 'score': 10.56}, {'connected_gene': 'MFRP', 'score': 10.56}, {'connected_gene': 'ENSG00000263873', 'score': 0.44}]
chr11 GH11I119469 119469778 119471750 1.05 [{'connected_gene': 'THY1', 'score': 23.56}, {'connected_gene': 'USP2', 'score': 17.69}, {'connected_gene': 'USP2-AS1', 'score': 12.11}, {'connected_gene': 'ENSG00000254740', 'score': 12.09}, {'connected_gene': 'C1QTNF5', 'score': 11.29}, {'connected_gene': 'MFRP', 'score': 11.29}, {'connected_gene': 'LOC105369520', 'score': 10.73}, {'connected_gene': 'GC11P119452', 'score': 0.37}, {'connected_gene': 'GC11P119503', 'score': 0.29}]
chr11 GH11I119459 119459295 119462169 0.94 [{'connected_gene': 'THY1', 'score': 35.35}, {'connected_gene': 'USP2', 'score': 18.89}, {'connected_gene': 'USP2-AS1', 'score': 12.12}, {'connected_gene': 'ENSG00000254740', 'score': 12.11}, {'connected_gene': 'C1QTNF5', 'score': 11.3}, {'connected_gene': 'MFRP', 'score': 11.3}, {'connected_gene': 'GC11P119452', 'score': 0.44}, {'connected_gene': 'GC11P119503', 'score': 0.26}]
chr11 GH11I119432 119432008 119433969 0.94 [{'connected_gene': 'THY1', 'score': 19.22}, {'connected_gene': 'USP2', 'score': 6.28}, {'connected_gene': 'GC11M119445', 'score': 0.39}, {'connected_gene': 'USP2-AS1', 'score': 0.23}]
chr11 GH11I119474 119474602 119475968 1.01 [{'connected_gene': 'THY1', 'score': 23.37}, {'connected_gene': 'MFRP', 'score': 10.91}, {'connected_gene': 'C1QTNF5', 'score': 10.91}, {'connected_gene': 'LOC105369520', 'score': 10.04}, {'connected_gene': 'GC11P119452', 'score': 0.34}, {'connected_gene': 'GC11P119503', 'score': 0.31}, {'connected_gene': 'USP2-AS1', 'score': 0.16}]
chr11 GH11I119472 119472330 119472479 0.69 [{'connected_gene': 'THY1', 'score': 11.46}, {'connected_gene': 'MFRP', 'score': 10.91}, {'connected_gene': 'C1QTNF5', 'score': 10.91}, {'connected_gene': 'LOC105369520', 'score': 10.04}, {'connected_gene': 'GC11P119452', 'score': 0.37}, {'connected_gene': 'GC11P119503', 'score': 0.29}, {'connected_gene': 'USP2-AS1', 'score': 0.16}]
chr11 GH11I119421 119421511 119423827 1.83 [{'connected_gene': 'THY1', 'score': 575.96}, {'connected_gene': 'HINFP', 'score': 10.92}, {'connected_gene': 'ENSG00000263873', 'score': 0.77}, {'connected_gene': 'USP2-AS1', 'score': 0.26}]
chr11 GH11I119366 119366354 119372784 1.63 [{'connected_gene': 'THY1', 'score': 21.83}, {'connected_gene': 'C1QTNF5', 'score': 13.53}, {'connected_gene': 'ABCG4', 'score': 12.67}, {'connected_gene': 'MFRP', 'score': 12.31}, {'connected_gene': 'USP2', 'score': 10.41}, {'connected_gene': 'NLRX1', 'score': 10.12}, {'connected_gene': 'H2AFX', 'score': 5.28}, {'connected_gene': 'ENSG00000254740', 'score': 0.77}, {'connected_gene': 'GC11M119369', 'score': 0.77}]
chr11 GH11I119425 119425955 119426138 0.38 [{'connected_gene': 'THY1', 'score': 550.77}, {'connected_gene': 'USP2-AS1', 'score': 11.91}, {'connected_gene': 'USP2', 'score': 11.91}, {'connected_gene': 'ENSG00000254740', 'score': 11.88}, {'connected_gene': 'MFRP', 'score': 10.56}, {'connected_gene': 'C1QTNF5', 'score': 10.56}, {'connected_gene': 'GC11M119445', 'score': 0.37}]
chr11 GH11I119426 119426250 119426940 0.38 [{'connected_gene': 'THY1', 'score': 569.97}, {'connected_gene': 'USP2-AS1', 'score': 11.91}, {'connected_gene': 'USP2', 'score': 11.91}, {'connected_gene': 'ENSG00000254740', 'score': 11.88}, {'connected_gene': 'MFRP', 'score': 10.56}, {'connected_gene': 'C1QTNF5', 'score': 10.56}, {'connected_gene': 'GC11M119445', 'score': 0.37}]
chr11 GH11I119441 119441951 119442100 0.73 [{'connected_gene': 'THY1', 'score': 19.1}, {'connected_gene': 'GC11M119445', 'score': 0.77}, {'connected_gene': 'USP2-AS1', 'score': 0.21}]
chr11 GH11I119420 119420801 119421200 0.51 [{'connected_gene': 'THY1', 'score': 6.72}, {'connected_gene': 'ENSG00000263873', 'score': 0.77}, {'connected_gene': 'USP2-AS1', 'score': 0.28}]
chr11 GH11I119444 119444675 119448283 0.89 [{'connected_gene': 'DUXAP5', 'score': 550.77}, {'connected_gene': 'GC11M119445', 'score': 550.77}, {'connected_gene': 'THY1', 'score': 24.6}, {'connected_gene': 'USP2', 'score': 6.23}, {'connected_gene': 'GC11P119452', 'score': 0.44}, {'connected_gene': 'USP2-AS1', 'score': 0.21}]
chr11 GH11I118433 118433976 118442200 2.7 [{'connected_gene': 'KMT2A', 'score': 561.41}, {'connected_gene': 'VPS11', 'score': 31.7}, {'connected_gene': 'TMEM25', 'score': 23.66}, {'connected_gene': 'IFT46', 'score': 19.63}, {'connected_gene': 'ARCN1', 'score': 19.21}, {'connected_gene': 'HINFP', 'score': 19.15}, {'connected_gene': 'THY1', 'score': 12.58}, {'connected_gene': 'CCDC84', 'score': 10.81}, {'connected_gene': 'LOC101929089', 'score': 10.61}, {'connected_gene': 'ENSG00000254873', 'score': 10.6}, {'connected_gene': 'ATP5MG', 'score': 10.6}, {'connected_gene': 'FXYD6', 'score': 10.18}, {'connected_gene': 'DSCAML1', 'score': 9.93}, {'connected_gene': 'CCDC153', 'score': 5.08}, {'connected_gene': 'ENSG00000255384', 'score': 0.77}, {'connected_gene': 'GC11M118474', 'score': 0.28}]
chr11 GH11I120328 120328450 120342594 2.54 [{'connected_gene': 'ARHGEF12', 'score': 555.55}, {'connected_gene': 'TMEM136', 'score': 25.31}, {'connected_gene': 'THY1', 'score': 12.58}]
chr11 GH11I120347 120346816 120347898 1.19 [{'connected_gene': 'TMEM136', 'score': 74.15}, {'connected_gene': 'TBCEL', 'score': 63.18}, {'connected_gene': 'TECTA', 'score': 16.14}, {'connected_gene': 'THY1', 'score': 12.58}, {'connected_gene': 'ARHGEF12', 'score': 0.39}, {'connected_gene': 'PIR31602', 'score': 0.37}]
chr11 GH11I119416 119416742 119420155 0.92 [{'connected_gene': 'ENSG00000263873', 'score': 550.77}, {'connected_gene': 'THY1', 'score': 25.63}, {'connected_gene': 'USP2-AS1', 'score': 0.28}]
chr11 GH11I119502 119502110 119502259 0.31 [{'connected_gene': 'GC11P119503', 'score': 550.77}, {'connected_gene': 'LOC105369520', 'score': 10.54}, {'connected_gene': 'THY1', 'score': 10.43}, {'connected_gene': 'GC11P119452', 'score': 0.25}, {'connected_gene': 'USP2-AS1', 'score': 0.13}]