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
ENST00000420986 [[111944809, 111945082], [111946290, 111946367], [111948938, 111949039], [111951132, 111951282], [111952705, 111952759], [111953191, 111954858]] [[111946298, 111946367], [111948938, 111949039], [111951132, 111951282], [111952705, 111952759], [111953191, 111953696]]
ENST00000532163 [[111945010, 111945640], [111946290, 111946408], [111948938, 111949039], [111951132, 111951282], [111952705, 111952759], [111953188, 111955874]] [[111948956, 111949039], [111951132, 111951282], [111952705, 111952759], [111953188, 111953696]]
ENST00000280352 [[111945012, 111945640], [111946290, 111946367], [111948938, 111949039], [111951132, 111951282], [111952705, 111952759], [111953191, 111955874]] [[111946298, 111946367], [111948938, 111949039], [111951132, 111951282], [111952705, 111952759], [111953191, 111953696]]
ENST00000530104 [[111945033, 111945082], [111946290, 111946367], [111948938, 111949039], [111951132, 111953151]] [[111946298, 111946367], [111948938, 111949039], [111951132, 111951310]]
ENST00000526879 [[111945039, 111945082], [111945610, 111945640], [111946290, 111946367], [111948938, 111949039], [111951132, 111951236]] [[111946298, 111946367], [111948938, 111949039], [111951132, 111951236]]
ENST00000524989 [[111945039, 111945082], [111945610, 111945640], [111946290, 111946374], [111948938, 111949039], [111951132, 111951282], [111952705, 111952759], [111953188, 111953669]] [[111946298, 111946374], [111948938, 111949039], [111951132, 111951147]]
ENST00000393047 [[111945039, 111945640], [111946290, 111946367], [111948938, 111949039], [111951132, 111951282], [111952705, 111952759], [111953188, 111955874]] [[111946298, 111946367], [111948938, 111949039], [111951132, 111951282], [111952705, 111952759], [111953188, 111953696]]
ENST00000525785 [[111945054, 111945082], [111946290, 111946408], [111948938, 111949039], [111951132, 111951282], [111952705, 111952759], [111953188, 111953546]] [[111948956, 111949039], [111951132, 111951282], [111952705, 111952759], [111953188, 111953546]]
ENST00000531378 [[111945508, 111945640], [111946290, 111946367], [111951132, 111951282], [111952705, 111952759], [111953188, 111953292]] [[111946335, 111946367], [111951132, 111951282], [111952705, 111952759], [111953188, 111953292]]
Promoter
Chrom Start End Description
chr11 111945015 111945069 CAGE_peak_1_at_C11orf57_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I111931 111931800 111932201 0.88 [{'connected_gene': 'FDXACB1', 'score': 10.67}, {'connected_gene': 'C11orf1', 'score': 10.67}, {'connected_gene': 'ALG9', 'score': 10.64}, {'connected_gene': 'NKAPD1', 'score': 10.41}, {'connected_gene': 'PIH1D2', 'score': 10.41}, {'connected_gene': 'ENSG00000255292', 'score': 9.92}, {'connected_gene': 'SDHD', 'score': 9.92}, {'connected_gene': 'TIMM8B', 'score': 9.92}, {'connected_gene': 'DIXDC1', 'score': 0.77}, {'connected_gene': 'RNA5SP351', 'score': 0.77}, {'connected_gene': 'ENSG00000255286', 'score': 0.39}]
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 GH11I111934 111934176 111945953 2.7 [{'connected_gene': 'DIXDC1', 'score': 550.39}, {'connected_gene': 'PPP2R1B', 'score': 16.64}, {'connected_gene': 'SDHD', 'score': 16.26}, {'connected_gene': 'C11orf52', 'score': 11.14}, {'connected_gene': 'HSPB2-C11orf52', 'score': 11.07}, {'connected_gene': 'HSPB2', 'score': 11.07}, {'connected_gene': 'ENSG00000255292', 'score': 10.69}, {'connected_gene': 'TIMM8B', 'score': 10.69}, {'connected_gene': 'FDXACB1', 'score': 10.66}, {'connected_gene': 'C11orf1', 'score': 10.64}, {'connected_gene': 'ALG9', 'score': 10.64}, {'connected_gene': 'NKAPD1', 'score': 10.42}, {'connected_gene': 'PIH1D2', 'score': 10.42}, {'connected_gene': 'PPIHP1', 'score': 4.51}, {'connected_gene': 'IL18', 'score': 1.2}, {'connected_gene': 'ENSG00000255286', 'score': 0.44}, {'connected_gene': 'RNA5SP351', 'score': 0.39}]
chr11 GH11I111986 111986451 111987341 0.31 [{'connected_gene': 'DIXDC1', 'score': 11.67}, {'connected_gene': 'RNA5SP351', 'score': 11.67}, {'connected_gene': 'NKAPD1', 'score': 10.51}, {'connected_gene': 'PIH1D2', 'score': 10.51}, {'connected_gene': 'CRYAB', 'score': 10.43}, {'connected_gene': 'C11orf52', 'score': 10.42}, {'connected_gene': 'PPIHP1', 'score': 9.56}, {'connected_gene': 'ENSG00000255334', 'score': 0.31}, {'connected_gene': 'ENSG00000255286', 'score': 0.26}]
chr11 GH11I112128 112128006 112130158 0.86 [{'connected_gene': 'BCO2', 'score': 28.11}, {'connected_gene': 'IL18', 'score': 11.38}, {'connected_gene': 'TEX12', 'score': 11.35}, {'connected_gene': 'ENSG00000255292', 'score': 11.33}, {'connected_gene': 'ENSG00000254638', 'score': 11.08}, {'connected_gene': 'SDHD', 'score': 11.08}, {'connected_gene': 'TIMM8B', 'score': 11.08}, {'connected_gene': 'NKAPD1', 'score': 10.48}, {'connected_gene': 'PIH1D2', 'score': 10.48}, {'connected_gene': 'CRYAB', 'score': 9.28}, {'connected_gene': 'HSPB2-C11orf52', 'score': 9.27}, {'connected_gene': 'HSPB2', 'score': 9.27}, {'connected_gene': 'C11orf52', 'score': 9.27}, {'connected_gene': 'DIXDC1', 'score': 8.86}]
chr11 GH11I111869 111869801 111870000 0.2 [{'connected_gene': 'ALG9', 'score': 550.77}, {'connected_gene': 'DIXDC1', 'score': 10.86}, {'connected_gene': 'HSPB2-C11orf52', 'score': 10.64}, {'connected_gene': 'HSPB2', 'score': 10.64}, {'connected_gene': 'C11orf52', 'score': 10.63}, {'connected_gene': 'CRYAB', 'score': 10.61}, {'connected_gene': 'NKAPD1', 'score': 9.57}, {'connected_gene': 'PIH1D2', 'score': 9.57}, {'connected_gene': 'GC11P111865', 'score': 0.44}, {'connected_gene': 'ENSG00000258529', 'score': 0.44}]
chr11 GH11I112320 112320393 112322821 1.34 [{'connected_gene': 'ALG9', 'score': 23.37}, {'connected_gene': 'NKAPD1', 'score': 22.19}, {'connected_gene': 'TTC12', 'score': 18.81}, {'connected_gene': 'RNU6-44P', 'score': 11.32}, {'connected_gene': 'DIXDC1', 'score': 10.72}, {'connected_gene': 'GC11P112339', 'score': 0.37}, {'connected_gene': 'GC11M112270', 'score': 0.23}, {'connected_gene': 'LOC283140', 'score': 0.23}]
chr11 GH11I112113 112113401 112113800 0.94 [{'connected_gene': 'ALG9', 'score': 15.31}, {'connected_gene': 'NKAPD1', 'score': 14.43}, {'connected_gene': 'PIH1D2', 'score': 10.1}, {'connected_gene': 'LOC101928847', 'score': 9.72}, {'connected_gene': 'SDHD', 'score': 0.31}, {'connected_gene': 'ENSG00000255292', 'score': 0.31}, {'connected_gene': 'IL18', 'score': 0.23}]
chr11 GH11I111870 111870227 111872417 1.98 [{'connected_gene': 'ALG9', 'score': 550.77}, {'connected_gene': 'PPP2R1B', 'score': 13.87}, {'connected_gene': 'DIXDC1', 'score': 10.86}, {'connected_gene': 'HSPB2-C11orf52', 'score': 10.64}, {'connected_gene': 'HSPB2', 'score': 10.64}, {'connected_gene': 'C11orf52', 'score': 10.63}, {'connected_gene': 'CRYAB', 'score': 10.61}, {'connected_gene': 'NKAPD1', 'score': 9.57}, {'connected_gene': 'PIH1D2', 'score': 9.57}, {'connected_gene': 'GC11P111865', 'score': 0.44}, {'connected_gene': 'ENSG00000258529', 'score': 0.44}]
chr11 GH11I111877 111877797 111877906 0.52 [{'connected_gene': 'C11orf1', 'score': 550.77}, {'connected_gene': 'ENSG00000258529', 'score': 550.77}, {'connected_gene': 'C11orf52', 'score': 10.74}, {'connected_gene': 'DIXDC1', 'score': 10.73}, {'connected_gene': 'CRYAB', 'score': 10.73}, {'connected_gene': 'NKAPD1', 'score': 10.54}, {'connected_gene': 'PIH1D2', 'score': 10.54}, {'connected_gene': 'HSPB2-C11orf52', 'score': 10.54}, {'connected_gene': 'HSPB2', 'score': 10.54}, {'connected_gene': 'PPP2R1B', 'score': 9.84}, {'connected_gene': 'ENSG00000255292', 'score': 9.43}, {'connected_gene': 'FDXACB1', 'score': 0.77}, {'connected_gene': 'ALG9', 'score': 0.44}]
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 GH11I112073 112073088 112075399 2.08 [{'connected_gene': 'NKAPD1', 'score': 561.46}, {'connected_gene': 'PIH1D2', 'score': 550.77}, {'connected_gene': 'ALG9', 'score': 15.89}, {'connected_gene': 'PPP2R1B', 'score': 13.93}, {'connected_gene': 'NCAM1', 'score': 10.11}, {'connected_gene': 'SDHD', 'score': 5.16}, {'connected_gene': 'SIK2', 'score': 4.92}]
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 GH11I112099 112099966 112101346 0.43 [{'connected_gene': 'NKAPD1', 'score': 11.59}, {'connected_gene': 'PIH1D2', 'score': 11.59}, {'connected_gene': 'TEX12', 'score': 10.33}, {'connected_gene': 'DIXDC1', 'score': 9.6}, {'connected_gene': 'CRYAB', 'score': 9.43}, {'connected_gene': 'C11orf52', 'score': 9.43}, {'connected_gene': 'HSPB2-C11orf52', 'score': 9.28}, {'connected_gene': 'HSPB2', 'score': 9.28}, {'connected_gene': 'SDHD', 'score': 4.4}, {'connected_gene': 'PPP2R1B', 'score': 4.37}, {'connected_gene': 'ENSG00000255292', 'score': 0.39}, {'connected_gene': 'IL18', 'score': 0.21}]
chr11 GH11I111797 111797117 111797736 0.82 [{'connected_gene': 'NKAPD1', 'score': 14.24}, {'connected_gene': 'COLCA2', 'score': 12.47}, {'connected_gene': 'PPP2R1B', 'score': 12.35}, {'connected_gene': 'DIXDC1', 'score': 10.8}, {'connected_gene': 'ENSG00000254990', 'score': 0.37}, {'connected_gene': 'ALG9-IT1', 'score': 0.29}, {'connected_gene': 'ALG9', 'score': 0.19}, {'connected_gene': 'ENSG00000258529', 'score': 0.18}]
chr11 GH11I111850 111850127 111852645 0.57 [{'connected_gene': 'PPP2R1B', 'score': 28.07}, {'connected_gene': 'ALG9', 'score': 11.79}, {'connected_gene': 'FDXACB1', 'score': 11.08}, {'connected_gene': 'C11orf1', 'score': 11.08}, {'connected_gene': 'C11orf52', 'score': 10.29}, {'connected_gene': 'CRYAB', 'score': 10.28}, {'connected_gene': 'DIXDC1', 'score': 10.27}, {'connected_gene': 'NKAPD1', 'score': 10.02}, {'connected_gene': 'PIH1D2', 'score': 10.02}, {'connected_gene': 'LAYN', 'score': 9.91}, {'connected_gene': 'GNG5P3', 'score': 0.39}, {'connected_gene': 'ALG9-IT1', 'score': 0.34}, {'connected_gene': 'ENSG00000258529', 'score': 0.31}]
chr11 GH11I111764 111764384 111767647 2.16 [{'connected_gene': 'PPP2R1B', 'score': 567.62}, {'connected_gene': 'ALG9', 'score': 90.22}, {'connected_gene': 'NKAPD1', 'score': 22.97}, {'connected_gene': 'SIK2', 'score': 20.9}, {'connected_gene': 'ENSG00000255334', 'score': 11.61}, {'connected_gene': 'PIH1D2', 'score': 10.73}, {'connected_gene': 'LAYN', 'score': 9.7}, {'connected_gene': 'BTG4', 'score': 8.82}, {'connected_gene': 'C11orf88', 'score': 8.82}, {'connected_gene': 'MIR34C', 'score': 8.82}, {'connected_gene': 'MIR34B', 'score': 8.82}, {'connected_gene': 'PIR46070', 'score': 0.31}]
chr11 GH11I111697 111697467 111700057 1.48 [{'connected_gene': 'PPP2R1B', 'score': 13.31}, {'connected_gene': 'NKAPD1', 'score': 10.15}, {'connected_gene': 'BTG4', 'score': 9.69}, {'connected_gene': 'C11orf88', 'score': 9.69}, {'connected_gene': 'MIR34C', 'score': 9.68}, {'connected_gene': 'MIR34B', 'score': 9.68}, {'connected_gene': 'SIK2', 'score': 9.38}, {'connected_gene': 'RN7SKP273', 'score': 0.37}, {'connected_gene': 'PIR48599', 'score': 0.34}]
chr11 GH11I112103 112103201 112104000 0.2 [{'connected_gene': 'PPP2R1B', 'score': 12.61}, {'connected_gene': 'NKAPD1', 'score': 10.54}, {'connected_gene': 'PIH1D2', 'score': 10.54}, {'connected_gene': 'TEX12', 'score': 9.96}, {'connected_gene': 'CRYAB', 'score': 9.95}, {'connected_gene': 'C11orf52', 'score': 9.94}, {'connected_gene': 'HSPB2-C11orf52', 'score': 9.93}, {'connected_gene': 'HSPB2', 'score': 9.93}, {'connected_gene': 'ENSG00000255292', 'score': 0.37}, {'connected_gene': 'SDHD', 'score': 0.37}, {'connected_gene': 'IL18', 'score': 0.21}]
chr11 GH11I112960 112960758 112964590 2.45 [{'connected_gene': 'NCAM1', 'score': 575.5}, {'connected_gene': 'LOC101928847', 'score': 555.11}, {'connected_gene': 'ENSG00000270179', 'score': 23.3}, {'connected_gene': 'NKAPD1', 'score': 12.57}, {'connected_gene': 'ZW10', 'score': 11.04}, {'connected_gene': 'TTC12', 'score': 10.98}, {'connected_gene': 'NCAM1-AS1', 'score': 9.9}]
chr11 GH11I112289 112289638 112294447 1.81 [{'connected_gene': 'LOC283140', 'score': 24.09}, {'connected_gene': 'RNU6-44P', 'score': 10.53}, {'connected_gene': 'ENSG00000255292', 'score': 10.02}, {'connected_gene': 'TEX12', 'score': 9.4}, {'connected_gene': 'NKAPD1', 'score': 9.32}, {'connected_gene': 'PIH1D2', 'score': 9.32}, {'connected_gene': 'BCO2', 'score': 4.33}, {'connected_gene': 'GC11M112270', 'score': 0.34}, {'connected_gene': 'GC11P112339', 'score': 0.25}]
chr11 GH11I111696 111696141 111697286 0.66 [{'connected_gene': 'SIK2', 'score': 10.88}, {'connected_gene': 'PPP2R1B', 'score': 10.46}, {'connected_gene': 'NKAPD1', 'score': 10.15}, {'connected_gene': 'BTG4', 'score': 9.69}, {'connected_gene': 'C11orf88', 'score': 9.69}, {'connected_gene': 'MIR34C', 'score': 9.69}, {'connected_gene': 'MIR34B', 'score': 9.69}, {'connected_gene': 'LAYN', 'score': 9.28}, {'connected_gene': 'RN7SKP273', 'score': 0.39}, {'connected_gene': 'PIR48599', 'score': 0.34}]
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 GH11I112016 112016121 112018103 1.04 [{'connected_gene': 'GC11M112018', 'score': 550.77}, {'connected_gene': 'ENSG00000255334', 'score': 550.77}, {'connected_gene': 'NKAPD1', 'score': 11.07}, {'connected_gene': 'PIH1D2', 'score': 11.07}, {'connected_gene': 'ENSG00000255292', 'score': 10.61}, {'connected_gene': 'SDHD', 'score': 10.61}, {'connected_gene': 'TIMM8B', 'score': 10.61}, {'connected_gene': 'FDXACB1', 'score': 10.22}, {'connected_gene': 'C11orf1', 'score': 10.22}, {'connected_gene': 'ALG9', 'score': 10.21}, {'connected_gene': 'DIXDC1', 'score': 0.17}]
chr11 GH11I112082 112082165 112084041 0.54 [{'connected_gene': 'PIR48704', 'score': 550.77}, {'connected_gene': 'RNA5SP351', 'score': 10.09}, {'connected_gene': 'DIXDC1', 'score': 10.09}, {'connected_gene': 'CRYAB', 'score': 10.01}, {'connected_gene': 'C11orf52', 'score': 10.01}, {'connected_gene': 'HSPB2-C11orf52', 'score': 10.0}, {'connected_gene': 'HSPB2', 'score': 10.0}, {'connected_gene': 'TEX12', 'score': 9.99}, {'connected_gene': 'PPP2R1B', 'score': 9.3}, {'connected_gene': 'SDHD', 'score': 5.57}, {'connected_gene': 'NKAPD1', 'score': 0.44}, {'connected_gene': 'PIH1D2', 'score': 0.44}]

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