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
ENST00000549982 [[93861263, 93861330], [93862967, 93863131], [93870729, 93870793], [93873163, 93873248], [93881272, 93881436], [93894951, 93897545]] [[93863061, 93863131], [93870729, 93870793], [93873163, 93873248], [93881272, 93881436], [93894951, 93894997]]
ENST00000361630 [[93861269, 93861330], [93862964, 93863131], [93864261, 93864281], [93870729, 93870793], [93873163, 93873248], [93881272, 93881436], [93894951, 93896432]] [[93863081, 93863131], [93864261, 93864281], [93870729, 93870793], [93873163, 93873248], [93881272, 93881436], [93894951, 93894997]]
ENST00000552217 [[93861291, 93861330], [93862964, 93863131], [93870729, 93870793], [93873163, 93873248], [93881272, 93881436], [93894951, 93895352]] [[93863061, 93863131], [93870729, 93870793], [93873163, 93873248], [93881272, 93881436], [93894951, 93894997]]
ENST00000552326 [[93861292, 93861330], [93862967, 93863131], [93873163, 93873248], [93881272, 93881436], [93894951, 93895067]] None
ENST00000393128 [[93861292, 93861330], [93862967, 93863131], [93870729, 93870793], [93873163, 93873248], [93881272, 93881436], [93894960, 93896428]] [[93863061, 93863131], [93870729, 93870793], [93873163, 93873248], [93881272, 93881436], [93894960, 93894997]]
ENST00000547098 [[93861293, 93861330], [93862964, 93863131], [93870729, 93870793], [93873163, 93873248], [93881272, 93881436], [93882064, 93882248]] [[93863061, 93863131], [93870729, 93870793], [93873163, 93873248], [93881272, 93881436], [93882064, 93882149]]
ENST00000358678 [[93861293, 93861330], [93862967, 93863131], [93864261, 93864366], [93870729, 93870793], [93873163, 93873248], [93881272, 93881436], [93894951, 93896437]] [[93863061, 93863131], [93864261, 93864347]]
ENST00000551396 [[93861315, 93861330], [93862964, 93863131], [93864261, 93864281], [93870729, 93870793], [93873163, 93873248], [93881272, 93881436], [93894951, 93895161]] [[93863061, 93863131], [93864261, 93864281], [93870729, 93870793], [93873163, 93873171]]
ENST00000549561 [[93862964, 93863131], [93870729, 93870793], [93873163, 93873248], [93881272, 93881436], [93894951, 93895087], [93896481, 93896640]] [[93863061, 93863131], [93870729, 93870793], [93873163, 93873248], [93881272, 93881436], [93894951, 93894997]]
ENST00000548545 [[93862989, 93863131], [93870729, 93870793], [93873163, 93873248], [93881272, 93881673]] [[93863061, 93863131], [93870729, 93870793], [93873163, 93873248], [93881272, 93881440]]
ENST00000552938 [[93894522, 93894804], [93895680, 93896397]] None
NM_014050 [[93861265, 93861330], [93862967, 93863131], [93870729, 93870793], [93873163, 93873248], [93881272, 93881436], [93894951, 93897548]] [[93863061, 93863131], [93870729, 93870793], [93873163, 93873248], [93881272, 93881436], [93894951, 93894997]]
NR_038160 [[93861265, 93861330], [93862967, 93863131], [93864261, 93864281], [93870729, 93870793], [93873163, 93873248], [93881272, 93881436], [93894951, 93897548]] None
NR_038161 [[93861265, 93861330], [93862967, 93863131], [93864261, 93864366], [93870729, 93870793], [93873163, 93873248], [93881272, 93881436], [93894951, 93897548]] None
NM_172177 [[93861265, 93861330], [93862964, 93863131], [93870729, 93870793], [93873163, 93873248], [93881272, 93881436], [93894951, 93897548]] [[93863061, 93863131], [93870729, 93870793], [93873163, 93873248], [93881272, 93881436], [93894951, 93894997]]
NR_038159 [[93861265, 93861330], [93862964, 93863131], [93864261, 93864281], [93870729, 93870793], [93873163, 93873248], [93881272, 93881436], [93894951, 93897548]] None
Promoter
Chrom Start End Description
chr12 93861265 93861276 CAGE_peak_2_at_MRPL42_5end
chr12 93861282 93861300 CAGE_peak_1_at_MRPL42_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I093526 93526905 93527074 0.84 [{'connected_gene': 'SOCS2', 'score': 12.53}, {'connected_gene': 'RBMS2P1', 'score': 12.02}, {'connected_gene': 'MRPL42', 'score': 11.45}, {'connected_gene': 'ENSG00000258271', 'score': 0.77}, {'connected_gene': 'RN7SL737P', 'score': 0.37}]
chr12 GH12I093525 93524233 93525218 0.65 [{'connected_gene': 'SOCS2', 'score': 12.6}, {'connected_gene': 'MRPL42', 'score': 5.46}, {'connected_gene': 'ENSG00000258271', 'score': 0.44}, {'connected_gene': 'RN7SL737P', 'score': 0.37}]
chr12 GH12I093536 93536070 93537852 0.49 [{'connected_gene': 'SOCS2', 'score': 12.26}, {'connected_gene': 'MRPL42', 'score': 5.22}, {'connected_gene': 'ENSG00000258271', 'score': 0.44}, {'connected_gene': 'GC12P093556', 'score': 0.37}]
chr12 GH12I093503 93503165 93503314 0.62 [{'connected_gene': 'SOCS2', 'score': 12.54}, {'connected_gene': 'SOCS2-AS1', 'score': 12.34}, {'connected_gene': 'RN7SL737P', 'score': 0.44}, {'connected_gene': 'MRPL42', 'score': 0.28}]
chr12 GH12I093514 93514885 93515054 0.46 [{'connected_gene': 'SOCS2', 'score': 11.41}, {'connected_gene': 'RN7SL737P', 'score': 0.44}, {'connected_gene': 'ENSG00000258271', 'score': 0.37}, {'connected_gene': 'MRPL42', 'score': 0.25}]
chr12 GH12I093496 93496555 93496980 0.28 [{'connected_gene': 'SOCS2', 'score': 12.13}, {'connected_gene': 'RN7SL737P', 'score': 0.39}, {'connected_gene': 'MRPL42', 'score': 0.31}]
chr12 GH12I093183 93183713 93185799 1.08 [{'connected_gene': 'EEA1', 'score': 14.28}, {'connected_gene': 'MRPL42', 'score': 10.62}, {'connected_gene': 'ENSG00000257322', 'score': 6.19}, {'connected_gene': 'LINC02412', 'score': 0.39}, {'connected_gene': 'GC12P093160', 'score': 0.34}, {'connected_gene': 'GC12P093215', 'score': 0.29}, {'connected_gene': 'GC12M093152', 'score': 0.18}, {'connected_gene': 'LOC643339', 'score': 0.08}]
chr12 GH12I093419 93419545 93419694 0.65 [{'connected_gene': 'UBE2N', 'score': 12.39}, {'connected_gene': 'MRPL42', 'score': 9.49}, {'connected_gene': 'GC12M093281', 'score': 0.44}, {'connected_gene': 'GC12P093160', 'score': 0.07}]
chr12 GH12I093440 93440065 93443415 2.06 [{'connected_gene': 'UBE2N', 'score': 550.77}, {'connected_gene': 'MRPL42', 'score': 15.03}, {'connected_gene': 'GC12M093281', 'score': 0.31}]
chr12 GH12I093425 93425249 93427911 0.6 [{'connected_gene': 'MRPL42', 'score': 14.51}, {'connected_gene': 'EEA1', 'score': 10.15}, {'connected_gene': 'SOCS2', 'score': 6.24}, {'connected_gene': 'ENSG00000257252', 'score': 5.92}, {'connected_gene': 'GC12M093281', 'score': 0.39}, {'connected_gene': 'UBE2N', 'score': 0.37}, {'connected_gene': 'GC12P093160', 'score': 0.06}]
chr12 GH12I093406 93406762 93407958 0.54 [{'connected_gene': 'MRPL42', 'score': 12.0}, {'connected_gene': 'UBE2N', 'score': 10.73}, {'connected_gene': 'NUDT4', 'score': 5.86}, {'connected_gene': 'ENSG00000257252', 'score': 4.6}, {'connected_gene': 'GC12M093281', 'score': 0.77}, {'connected_gene': 'PIR47591', 'score': 0.44}, {'connected_gene': 'GC12P093160', 'score': 0.07}]
chr12 GH12I093466 93466905 93469003 2.07 [{'connected_gene': 'MRPL42', 'score': 570.25}, {'connected_gene': 'UBE2N', 'score': 12.29}, {'connected_gene': 'RN7SL737P', 'score': 0.26}]
chr12 GH12I093435 93435483 93438452 0.94 [{'connected_gene': 'MRPL42', 'score': 12.84}, {'connected_gene': 'ENSG00000257252', 'score': 4.47}, {'connected_gene': 'UBE2N', 'score': 0.44}, {'connected_gene': 'GC12M093281', 'score': 0.34}]
chr12 GH12I093383 93383712 93384340 0.46 [{'connected_gene': 'MRPL42', 'score': 5.17}, {'connected_gene': 'NUDT4', 'score': 0.44}, {'connected_gene': 'GC12P093403', 'score': 0.37}, {'connected_gene': 'GC12P093405', 'score': 0.37}, {'connected_gene': 'PIR61938', 'score': 0.37}, {'connected_gene': 'GC12M093281', 'score': 0.31}, {'connected_gene': 'GC12P093160', 'score': 0.07}]
chr12 GH12I093469 93469801 93470000 0.2 [{'connected_gene': 'MRPL42', 'score': 0.77}, {'connected_gene': 'RN7SL737P', 'score': 0.28}]
chr12 GH12I093530 93530197 93531217 0.49 [{'connected_gene': 'ENSG00000258271', 'score': 550.77}, {'connected_gene': 'SOCS2', 'score': 12.55}, {'connected_gene': 'MRPL42', 'score': 6.07}, {'connected_gene': 'UBE2N', 'score': 4.37}, {'connected_gene': 'GC12P093556', 'score': 0.31}]
chr12 GH12I093309 93309775 93311064 0.65 [{'connected_gene': 'ENSG00000257512', 'score': 5.27}, {'connected_gene': 'MRPL42', 'score': 4.32}, {'connected_gene': 'GC12M093152', 'score': 0.26}, {'connected_gene': 'LOC643339', 'score': 0.2}, {'connected_gene': 'GC12M093281', 'score': 0.15}, {'connected_gene': 'GC12P093160', 'score': 0.11}]
chr12 GH12I093382 93382801 93383200 0.58 [{'connected_gene': 'ENSG00000257512', 'score': 10.89}, {'connected_gene': 'MRPL42', 'score': 4.44}, {'connected_gene': 'NUDT4', 'score': 0.44}, {'connected_gene': 'GC12P093403', 'score': 0.37}, {'connected_gene': 'GC12P093405', 'score': 0.37}, {'connected_gene': 'PIR61938', 'score': 0.37}, {'connected_gene': 'GC12M093281', 'score': 0.31}, {'connected_gene': 'GC12P093160', 'score': 0.07}]
chr12 GH12I093375 93375523 93382205 2.45 [{'connected_gene': 'ENSG00000257252', 'score': 575.85}, {'connected_gene': 'NUDT4', 'score': 557.37}, {'connected_gene': 'LOC643339', 'score': 550.77}, {'connected_gene': 'ENSG00000257512', 'score': 10.52}, {'connected_gene': 'UBE2N', 'score': 6.89}, {'connected_gene': 'MRPL42', 'score': 4.43}, {'connected_gene': 'GC12P093403', 'score': 0.34}, {'connected_gene': 'GC12P093405', 'score': 0.34}, {'connected_gene': 'PIR61938', 'score': 0.34}, {'connected_gene': 'GC12M093281', 'score': 0.29}, {'connected_gene': 'GC12P093160', 'score': 0.08}]

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