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
ENST00000280346 [[111895537, 111896475], [111896921, 111897023], [111899238, 111899363], [111899515, 111899669], [111904127, 111904254], [111907996, 111908184], [111909967, 111910121], [111914189, 111914257], [111915861, 111915954], [111916586, 111916694], [111921957, 111922073], [111930626, 111930789], [111931761, 111931898], [111933129, 111935114]] [[111896196, 111896475], [111896921, 111897023], [111899238, 111899363], [111899515, 111899669], [111904127, 111904254], [111907996, 111908184], [111909967, 111910121], [111914189, 111914257], [111915861, 111915954], [111916586, 111916694], [111921957, 111922073], [111930626, 111930789], [111931761, 111931898], [111933129, 111933259]]
ENST00000533297 [[111896131, 111896348], [111896921, 111897023], [111899238, 111899363], [111899515, 111899669], [111904127, 111904254], [111907996, 111908184], [111909967, 111910121], [111914189, 111914257], [111915861, 111915954], [111916586, 111916694], [111921957, 111922073], [111930626, 111930789], [111931761, 111931898], [111933129, 111933495]] [[111896196, 111896348], [111896921, 111896967]]
ENST00000393051 [[111896163, 111896475], [111896921, 111897023], [111899238, 111899363], [111899515, 111899669], [111909967, 111910121], [111914189, 111914257], [111915861, 111915954], [111916586, 111916694], [111921957, 111922073], [111930626, 111930789], [111931761, 111931898], [111933129, 111935114]] [[111896196, 111896475], [111896921, 111897023], [111899238, 111899363], [111899515, 111899669], [111909967, 111910121], [111914189, 111914257], [111915861, 111915954], [111916586, 111916694], [111921957, 111922073], [111930626, 111930789], [111931761, 111931898], [111933129, 111933259]]
ENST00000531306 [[111896319, 111896475], [111896921, 111897006], [111904212, 111904254], [111907996, 111908184], [111909967, 111910121], [111914189, 111914257], [111915861, 111915954], [111916586, 111916694], [111921957, 111922073], [111930626, 111930789], [111931761, 111931898], [111933129, 111933585]] [[111896319, 111896475], [111896921, 111897006], [111904212, 111904254], [111907996, 111908184], [111909967, 111910121], [111914189, 111914257], [111915861, 111915954], [111916586, 111916694], [111921957, 111922073], [111930626, 111930789], [111931761, 111931898], [111933129, 111933259]]
ENST00000537636 [[111896319, 111896475], [111896921, 111897006], [111904212, 111904254], [111907996, 111908184], [111909967, 111910121], [111914189, 111914257], [111915861, 111915954], [111916586, 111916694], [111921957, 111922073], [111930626, 111930789], [111931761, 111931898], [111933129, 111933585]] [[111896948, 111897006], [111904212, 111904254], [111907996, 111908184], [111909967, 111910121], [111914189, 111914257], [111915861, 111915954], [111916586, 111916694], [111921957, 111922073], [111930626, 111930789], [111931761, 111931898], [111933129, 111933259]]
ENST00000527231 [[111930718, 111930789], [111931761, 111932271]] None
NM_001931 [[111895537, 111896475], [111896921, 111897023], [111899238, 111899363], [111899515, 111899669], [111904127, 111904254], [111907996, 111908184], [111909967, 111910121], [111914189, 111914257], [111915861, 111915954], [111916586, 111916694], [111921957, 111922073], [111930626, 111930789], [111931761, 111931898], [111933129, 111935002]] [[111896196, 111896475], [111896921, 111897023], [111899238, 111899363], [111899515, 111899669], [111904127, 111904254], [111907996, 111908184], [111909967, 111910121], [111914189, 111914257], [111915861, 111915954], [111916586, 111916694], [111921957, 111922073], [111930626, 111930789], [111931761, 111931898], [111933129, 111933259]]
Promoter
Chrom Start End Description
chr11 111895845 111895876 CAGE_peak_2_at_DLAT_5end
chr11 111895882 111895907 CAGE_peak_3_at_DLAT_5end
chr11 111895937 111895954 CAGE_peak_5_at_DLAT_5end
chr11 111895969 111895977 CAGE_peak_8_at_DLAT_5end
chr11 111896090 111896207 CAGE_peak_1_at_DLAT_5end
chr11 111896321 111896332 CAGE_peak_4_at_DLAT_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I112059 112059049 112059375 0.26 [{'connected_gene': 'DIXDC1', 'score': 1.6}, {'connected_gene': 'NKAPD1', 'score': 0.39}, {'connected_gene': 'PIH1D2', 'score': 0.37}, {'connected_gene': 'ENSG00000271025', 'score': 0.34}, {'connected_gene': 'DLAT', 'score': 0.29}]
chr11 GH11I112050 112050556 112051961 0.63 [{'connected_gene': 'SDHD', 'score': 10.69}, {'connected_gene': 'ENSG00000255292', 'score': 10.69}, {'connected_gene': 'TIMM8B', 'score': 10.69}, {'connected_gene': 'ENSG00000271025', 'score': 0.39}, {'connected_gene': 'NKAPD1', 'score': 0.34}, {'connected_gene': 'DLAT', 'score': 0.31}]
chr11 GH11I112041 112041989 112043379 0.76 [{'connected_gene': 'NKAPD1', 'score': 12.4}, {'connected_gene': 'PIH1D2', 'score': 12.4}, {'connected_gene': 'SDHD', 'score': 10.89}, {'connected_gene': 'ENSG00000255292', 'score': 10.89}, {'connected_gene': 'TIMM8B', 'score': 10.89}, {'connected_gene': 'DLAT', 'score': 10.33}, {'connected_gene': 'TEX12', 'score': 9.21}, {'connected_gene': 'ENSG00000271025', 'score': 0.44}]
chr11 GH11I112717 112717934 112720502 0.2 [{'connected_gene': 'NCAM1', 'score': 7.25}, {'connected_gene': 'DLAT', 'score': 7.24}, {'connected_gene': 'LOC105369496', 'score': 0.37}, {'connected_gene': 'ENSG00000212397', 'score': 0.13}, {'connected_gene': 'GC11M112603', 'score': 0.13}]
chr11 GH11I111997 111997201 111997600 0.38 [{'connected_gene': 'DLAT', 'score': 4.51}, {'connected_gene': 'ENSG00000255334', 'score': 0.37}, {'connected_gene': 'ENSG00000255286', 'score': 0.23}, {'connected_gene': 'DIXDC1', 'score': 0.19}]
chr11 GH11I112024 112023601 112023800 0.2 [{'connected_gene': 'DLAT', 'score': 550.77}, {'connected_gene': 'NKAPD1', 'score': 10.98}, {'connected_gene': 'PIH1D2', 'score': 10.98}, {'connected_gene': 'GC11M112018', 'score': 0.44}]
chr11 GH11I112023 112023864 112026400 2.09 [{'connected_gene': 'DLAT', 'score': 550.77}, {'connected_gene': 'PPP2R1B', 'score': 14.77}, {'connected_gene': 'FDXACB1', 'score': 12.73}, {'connected_gene': 'ALG9', 'score': 11.96}, {'connected_gene': 'NKAPD1', 'score': 11.31}, {'connected_gene': 'PIH1D2', 'score': 11.31}, {'connected_gene': 'DIXDC1', 'score': 11.01}, {'connected_gene': 'IL18', 'score': 10.97}, {'connected_gene': 'CRYAB', 'score': 10.46}, {'connected_gene': 'C11orf52', 'score': 10.46}, {'connected_gene': 'GC11M112030', 'score': 0.44}]
chr11 GH11I111908 111908675 111914930 2.03 [{'connected_gene': 'HSPB2-C11orf52', 'score': 550.77}, {'connected_gene': 'HSPB2', 'score': 550.77}, {'connected_gene': 'CRYAB', 'score': 550.39}, {'connected_gene': 'PPP2R1B', 'score': 16.9}, {'connected_gene': 'C11orf52', 'score': 7.51}, {'connected_gene': 'DLAT', 'score': 4.69}, {'connected_gene': 'RPL37AP8', 'score': 0.34}]

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