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
ENST00000608795 [[140454384, 140454520], [140468073, 140468203], [140525554, 140525636], [140525922, 140525964], [140527751, 140527853]] [[140454384, 140454520], [140468073, 140468203], [140525554, 140525570]]
ENST00000506866 [[140417094, 140417675], [140439038, 140439196], [140441430, 140441548], [140444507, 140444589], [140450184, 140450374], [140454318, 140454520], [140468073, 140468203], [140477251, 140477392]] [[140417506, 140417675], [140439038, 140439196], [140441430, 140441548], [140444507, 140444589], [140450184, 140450374], [140454318, 140454520], [140468073, 140468203], [140477251, 140477291]]
ENST00000515101 [[140417242, 140417675], [140439038, 140439196], [140441430, 140441550]] None
ENST00000274031 [[140427189, 140432997], [140439038, 140439196], [140441430, 140441548], [140444507, 140444589], [140450184, 140450374], [140454318, 140454520], [140468073, 140468203], [140477251, 140477928]] [[140432816, 140432997], [140439038, 140439196], [140441430, 140441548], [140444507, 140444589], [140450184, 140450374], [140454318, 140454520], [140468073, 140468203], [140477251, 140477291]]
ENST00000404104 [[140453732, 140454520], [140468073, 140468203], [140477251, 140477923]] [[140454282, 140454520], [140468073, 140468203], [140477251, 140477291]]
ENST00000406354 [[140453735, 140454520], [140468073, 140468203], [140469172, 140469273], [140477251, 140477362]] [[140454428, 140454520], [140468073, 140468191]]
ENST00000608958 [[140517761, 140522644], [140523836, 140523911], [140525554, 140525636], [140525922, 140525964], [140527513, 140527610], [140527751, 140527853]] [[140522594, 140522644], [140523836, 140523911], [140525554, 140525570]]
NM_001306199 [[140417087, 140417675], [140439038, 140439196], [140441430, 140441548], [140444507, 140444589], [140450184, 140450374], [140454318, 140454520], [140468073, 140468203], [140477251, 140477923]] [[140417506, 140417675], [140439038, 140439196], [140441430, 140441548], [140444507, 140444589], [140450184, 140450374], [140454318, 140454520], [140468073, 140468203], [140477251, 140477291]]
NM_030648 [[140427191, 140432997], [140439038, 140439196], [140441430, 140441548], [140444507, 140444589], [140450184, 140450374], [140454318, 140454520], [140468073, 140468203], [140477251, 140477923]] [[140432816, 140432997], [140439038, 140439196], [140441430, 140441548], [140444507, 140444589], [140450184, 140450374], [140454318, 140454520], [140468073, 140468203], [140477251, 140477291]]
NR_131339 [[140453732, 140454520], [140468073, 140468203], [140469172, 140469273], [140477251, 140477923]] None
NM_001306200 [[140453732, 140454520], [140468073, 140468203], [140477251, 140477923]] [[140454282, 140454520], [140468073, 140468203], [140477251, 140477291]]
Promoter
Chrom Start End Description
chr4 140477339 140477350 CAGE_peak_3_at_SETD7_5end
chr4 140477353 140477400 CAGE_peak_1_at_SETD7_5end
chr4 140477535 140477623 CAGE_peak_2_at_SETD7_5end
chr4 140477629 140477640 CAGE_peak_6_at_SETD7_5end
chr4 140477910 140477922 CAGE_peak_10_at_SETD7_5end
chr4 140477928 140477990 CAGE_peak_4_at_SETD7_5end
chr4 140478036 140478062 CAGE_peak_8_at_SETD7_5end
chr4 140478299 140478335 CAGE_peak_5_at_SETD7_5end
chr4 140478355 140478368 CAGE_peak_13_at_SETD7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I139574 139574504 139577892 0.66 [{'connected_gene': 'SETD7', 'score': 11.91}, {'connected_gene': 'MGARP', 'score': 9.77}, {'connected_gene': 'LOC105377451', 'score': 0.44}]
chr4 GH04I139528 139528232 139529416 0.97 [{'connected_gene': 'SETD7', 'score': 18.09}, {'connected_gene': 'MGARP', 'score': 10.09}, {'connected_gene': 'FTH1P24', 'score': 0.37}, {'connected_gene': 'PIR37632', 'score': 0.34}, {'connected_gene': 'GC04M139508', 'score': 0.34}]
chr4 GH04I139603 139603727 139603876 0.93 [{'connected_gene': 'SETD7', 'score': 0.77}, {'connected_gene': 'LOC105377622', 'score': 0.77}, {'connected_gene': 'LOC105377451', 'score': 0.28}]
chr4 GH04I139606 139606401 139607927 0.82 [{'connected_gene': 'SETD7', 'score': 550.77}, {'connected_gene': 'LOC105377622', 'score': 550.77}]
chr4 GH04I139592 139592627 139594039 1.12 [{'connected_gene': 'SETD7', 'score': 0.39}, {'connected_gene': 'LOC105377451', 'score': 0.34}]
chr4 GH04I139600 139600107 139600256 0.93 [{'connected_gene': 'SETD7', 'score': 0.44}, {'connected_gene': 'LOC105377451', 'score': 0.29}]
chr4 GH04I139588 139588317 139590326 0.38 [{'connected_gene': 'SETD7', 'score': 0.37}, {'connected_gene': 'LOC105377451', 'score': 0.34}]
chr4 GH04I139595 139595567 139597791 0.99 [{'connected_gene': 'SETD7', 'score': 0.39}, {'connected_gene': 'LOC105377451', 'score': 0.31}]
chr4 GH04I139539 139539578 139541899 0.38 [{'connected_gene': 'SETD7', 'score': 9.11}, {'connected_gene': 'FTH1P24', 'score': 0.44}, {'connected_gene': 'PIR37632', 'score': 0.29}, {'connected_gene': 'GC04M139508', 'score': 0.29}]
chr4 GH04I139532 139532567 139533754 0.72 [{'connected_gene': 'SETD7', 'score': 12.62}, {'connected_gene': 'FTH1P24', 'score': 0.39}, {'connected_gene': 'PIR37632', 'score': 0.31}, {'connected_gene': 'GC04M139508', 'score': 0.31}]
chr4 GH04I140070 140070201 140072586 0.99 [{'connected_gene': 'MAML3', 'score': 12.19}, {'connected_gene': 'LOC101927516', 'score': 11.77}, {'connected_gene': 'SETD7', 'score': 5.61}, {'connected_gene': 'GC04M140002', 'score': 0.2}]
chr4 GH04I139567 139567804 139569416 0.63 [{'connected_gene': 'LOC105377451', 'score': 550.77}, {'connected_gene': 'SETD7', 'score': 0.28}]
chr4 GH04I139562 139562020 139565206 0.49 [{'connected_gene': 'LOC105377451', 'score': 0.77}, {'connected_gene': 'ENSG00000272717', 'score': 0.44}, {'connected_gene': 'SETD7', 'score': 0.26}]
chr4 GH04I140060 140060723 140062483 1 [{'connected_gene': 'LOC101927516', 'score': 11.23}, {'connected_gene': 'SETD7', 'score': 5.3}, {'connected_gene': 'GC04M140002', 'score': 0.22}, {'connected_gene': 'MAML3', 'score': 0.16}]
chr4 GH04I140081 140081495 140086428 1.15 [{'connected_gene': 'LOC101927516', 'score': 11.7}, {'connected_gene': 'MAML3', 'score': 11.16}, {'connected_gene': 'SETD7', 'score': 6.83}, {'connected_gene': 'GC04M140002', 'score': 0.18}]
chr4 GH04I139550 139550846 139561998 2.64 [{'connected_gene': 'ENSG00000272717', 'score': 550.77}, {'connected_gene': 'SETD7', 'score': 550.23}, {'connected_gene': 'ELF2', 'score': 14.78}, {'connected_gene': 'NAA15', 'score': 13.64}, {'connected_gene': 'MAML3', 'score': 12.83}, {'connected_gene': 'ELMOD2', 'score': 10.29}, {'connected_gene': 'NDUFC1', 'score': 4.55}, {'connected_gene': 'FTH1P24', 'score': 0.39}]