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
ENST00000215980 [[42334724, 42335200], [42339613, 42339705], [42341228, 42341308], [42341916, 42342009], [42342420, 42342500], [42343023, 42343168]] [[42335059, 42335200], [42339613, 42339705], [42341228, 42341308], [42341916, 42342009], [42342420, 42342500], [42343023, 42343080]]
ENST00000404067 [[42334740, 42335200], [42341228, 42341308], [42341916, 42342009], [42342420, 42342692]] [[42335186, 42335200], [42341228, 42341308], [42341916, 42342009], [42342420, 42342455]]
ENST00000402338 [[42334740, 42335200], [42339613, 42339705], [42341228, 42341308], [42341916, 42342009], [42342420, 42342697]] [[42335059, 42335200], [42339613, 42339705], [42341228, 42341308], [42341916, 42342009], [42342420, 42342455]]
ENST00000407253 [[42334752, 42335200], [42341228, 42341308], [42341916, 42342009], [42342420, 42342500], [42343023, 42343140]] [[42335186, 42335200], [42341228, 42341308], [42341916, 42342009], [42342420, 42342500], [42343023, 42343080]]
ENST00000402420 [[42335175, 42335200], [42339613, 42339705], [42341228, 42341393], [42341916, 42342009], [42342420, 42342733]] [[42339620, 42339705], [42341228, 42341393], [42341916, 42342009], [42342420, 42342455]]
ENST00000472374 [[42334740, 42335200], [42336142, 42336223]] [[42335059, 42335200], [42336142, 42336178]]
ENST00000396437 [[42340924, 42341308], [42341916, 42342009], [42342420, 42342500], [42343023, 42343155]] None
ENST00000460824 [[42342311, 42342500], [42343023, 42343137]] None
NM_001304372 [[42334724, 42335200], [42339613, 42339705], [42341228, 42341393], [42341916, 42342009], [42342420, 42342758]] [[42339620, 42339705], [42341228, 42341393], [42341916, 42342009], [42342420, 42342455]]
NM_001304370 [[42334724, 42335200], [42339613, 42339705], [42341228, 42341308], [42341916, 42342009], [42342420, 42342758]] [[42335059, 42335200], [42339613, 42339705], [42341228, 42341308], [42341916, 42342009], [42342420, 42342455]]
NM_001304373 [[42334724, 42335200], [42341228, 42341308], [42341916, 42342009], [42342420, 42342758]] [[42335186, 42335200], [42341228, 42341308], [42341916, 42342009], [42342420, 42342455]]
NM_024053 [[42334724, 42335200], [42339613, 42339705], [42341228, 42341308], [42341916, 42342009], [42342420, 42342500], [42343023, 42343168]] [[42335059, 42335200], [42339613, 42339705], [42341228, 42341308], [42341916, 42342009], [42342420, 42342500], [42343023, 42343080]]
NM_001002876 [[42334724, 42335200], [42341228, 42341308], [42341916, 42342009], [42342420, 42342500], [42343023, 42343168]] [[42335186, 42335200], [42341228, 42341308], [42341916, 42342009], [42342420, 42342500], [42343023, 42343080]]
NM_001110215 [[42334724, 42335200], [42336142, 42336223]] [[42335059, 42335200], [42336142, 42336178]]
NM_001304371 [[42340924, 42341308], [42341916, 42342009], [42342420, 42342500], [42343023, 42343168]] [[42341139, 42341308], [42341916, 42342009], [42342420, 42342500], [42343023, 42343080]]
Promoter
Chrom Start End Description
chr22 42336157 42336166 CAGE_peak_8_at_CENPM_5end
chr22 42336209 42336228 CAGE_peak_3_at_CENPM_5end
chr22 42342506 42342525 CAGE_peak_7_at_CENPM_5end
chr22 42342702 42342716 CAGE_peak_5_at_CENPM_5end
chr22 42342734 42342757 CAGE_peak_4_at_CENPM_5end
chr22 42343092 42343107 CAGE_peak_2_at_CENPM_5end
chr22 42343117 42343181 CAGE_peak_1_at_CENPM_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr22 GH22I041907 41907572 41911803 1.35 [{'connected_gene': 'SMDT1', 'score': 10.55}, {'connected_gene': 'CENPM', 'score': 6.57}, {'connected_gene': 'TNFRSF13C', 'score': 6.17}, {'connected_gene': 'CSDC2', 'score': 4.09}, {'connected_gene': 'SHISA8', 'score': 2.24}, {'connected_gene': 'TOB2', 'score': 1.29}, {'connected_gene': 'GC22P041968', 'score': 0.77}]
chr22 GH22I041842 41842456 41842775 0.46 [{'connected_gene': 'CENPM', 'score': 10.69}, {'connected_gene': 'SMDT1', 'score': 5.91}, {'connected_gene': 'SREBF2', 'score': 0.44}, {'connected_gene': 'ENSG00000184068', 'score': 0.44}, {'connected_gene': 'MIR33A', 'score': 0.22}]
chr22 GH22I041946 41945201 41945400 0.4 [{'connected_gene': 'CENPM', 'score': 550.77}, {'connected_gene': 'SMDT1', 'score': 15.07}, {'connected_gene': 'GC22P041963', 'score': 0.39}]
chr22 GH22I041844 41843097 41843146 0.72 [{'connected_gene': 'CENPM', 'score': 10.69}, {'connected_gene': 'ENSG00000184068', 'score': 0.44}, {'connected_gene': 'SREBF2', 'score': 0.39}, {'connected_gene': 'MIR33A', 'score': 0.22}]
chr22 GH22I041895 41895563 41896005 0.31 [{'connected_gene': 'CENPM', 'score': 11.22}, {'connected_gene': 'SNU13', 'score': 10.57}, {'connected_gene': 'C22orf46', 'score': 10.57}, {'connected_gene': 'SMDT1', 'score': 10.55}, {'connected_gene': 'RNU6ATAC22P', 'score': 10.37}, {'connected_gene': 'WBP2NL', 'score': 4.55}, {'connected_gene': 'MIR33A', 'score': 0.44}, {'connected_gene': 'SREBF2', 'score': 0.21}, {'connected_gene': 'ENSG00000184068', 'score': 0.21}]
chr22 GH22I041948 41948600 41948645 0.51 [{'connected_gene': 'CENPM', 'score': 550.77}, {'connected_gene': 'LINC00634', 'score': 0.77}]
chr22 GH22I041945 41945569 41948289 2.22 [{'connected_gene': 'CENPM', 'score': 550.77}, {'connected_gene': 'EP300', 'score': 31.77}, {'connected_gene': 'XRCC6', 'score': 27.9}, {'connected_gene': 'EP300-AS1', 'score': 24.03}, {'connected_gene': 'WBP2NL', 'score': 20.27}, {'connected_gene': 'SMDT1', 'score': 19.4}, {'connected_gene': 'ENSG00000232754', 'score': 14.6}, {'connected_gene': 'NAGA', 'score': 12.65}, {'connected_gene': 'MEI1', 'score': 12.07}, {'connected_gene': 'POLDIP3', 'score': 12.05}, {'connected_gene': 'SNU13', 'score': 11.06}, {'connected_gene': 'PHF5A', 'score': 9.91}, {'connected_gene': 'GC22P041963', 'score': 0.39}]
chr22 GH22I041890 41890848 41892494 0.2 [{'connected_gene': 'CENPM', 'score': 11.71}, {'connected_gene': 'TNFRSF13C', 'score': 11.52}, {'connected_gene': 'SNU13', 'score': 10.84}, {'connected_gene': 'C22orf46', 'score': 10.84}, {'connected_gene': 'RNU6ATAC22P', 'score': 10.51}, {'connected_gene': 'WBP2NL', 'score': 9.28}, {'connected_gene': 'SMDT1', 'score': 6.59}, {'connected_gene': 'ENSG00000227370', 'score': 5.64}, {'connected_gene': 'MIR33A', 'score': 0.44}, {'connected_gene': 'SREBF2', 'score': 0.22}, {'connected_gene': 'ENSG00000184068', 'score': 0.22}]
chr22 GH22I041931 41931335 41942006 2.13 [{'connected_gene': 'CENPM', 'score': 563.89}, {'connected_gene': 'GC22P041963', 'score': 550.77}, {'connected_gene': 'TNFRSF13C', 'score': 40.9}, {'connected_gene': 'MEI1', 'score': 15.34}, {'connected_gene': 'SMDT1', 'score': 15.11}, {'connected_gene': 'CYP2D6', 'score': 14.04}, {'connected_gene': 'SHISA8', 'score': 5.12}, {'connected_gene': 'CSDC2', 'score': 3.96}]
chr22 GH22I041943 41943601 41944000 0.38 [{'connected_gene': 'CENPM', 'score': 0.77}, {'connected_gene': 'GC22P041963', 'score': 0.44}]
chr22 GH22I041838 41838917 41839066 0.51 [{'connected_gene': 'DESI1', 'score': 13.45}, {'connected_gene': 'CENPM', 'score': 11.53}, {'connected_gene': 'RNU6ATAC22P', 'score': 10.09}, {'connected_gene': 'ENSG00000184068', 'score': 0.77}, {'connected_gene': 'SREBF2', 'score': 0.44}, {'connected_gene': 'MIR33A', 'score': 0.21}]
chr22 GH22I041660 41660557 41660706 0.71 [{'connected_gene': 'SNU13', 'score': 12.55}, {'connected_gene': 'C22orf46', 'score': 12.55}, {'connected_gene': 'DESI1', 'score': 11.49}, {'connected_gene': 'XRCC6', 'score': 11.49}, {'connected_gene': 'CENPM', 'score': 11.08}, {'connected_gene': 'MEI1', 'score': 10.79}, {'connected_gene': 'CSDC2', 'score': 10.7}, {'connected_gene': 'RNU6ATAC22P', 'score': 9.51}, {'connected_gene': 'PIR49915', 'score': 0.44}, {'connected_gene': 'PIR47284', 'score': 0.39}]
chr22 GH22I042088 42088743 42091817 2.32 [{'connected_gene': 'NDUFA6', 'score': 601.98}, {'connected_gene': 'NDUFA6-AS1', 'score': 555.03}, {'connected_gene': 'ENSG00000270083', 'score': 550.77}, {'connected_gene': 'SMDT1', 'score': 72.98}, {'connected_gene': 'CYP2D6', 'score': 53.25}, {'connected_gene': 'PHF5A', 'score': 12.78}, {'connected_gene': 'POLDIP3', 'score': 11.82}, {'connected_gene': 'EP300', 'score': 11.29}, {'connected_gene': 'NAGA', 'score': 10.9}, {'connected_gene': 'ENSG00000232754', 'score': 9.9}, {'connected_gene': 'NFAM1', 'score': 2.52}, {'connected_gene': 'CENPM', 'score': 1.84}, {'connected_gene': 'CCDC134', 'score': 1.54}]
chr22 GH22I041897 41897802 41900194 0.63 [{'connected_gene': 'MIR33A', 'score': 550.77}, {'connected_gene': 'NDUFA6', 'score': 31.08}, {'connected_gene': 'TNFRSF13C', 'score': 17.62}, {'connected_gene': 'CYP2D6', 'score': 11.29}, {'connected_gene': 'CENPM', 'score': 11.23}, {'connected_gene': 'SNU13', 'score': 10.57}, {'connected_gene': 'C22orf46', 'score': 10.57}, {'connected_gene': 'SMDT1', 'score': 10.55}, {'connected_gene': 'RNU6ATAC22P', 'score': 10.37}, {'connected_gene': 'WBP2NL', 'score': 4.58}, {'connected_gene': 'ENSG00000184068', 'score': 0.21}, {'connected_gene': 'SREBF2', 'score': 0.2}]
chr22 GH22I041840 41840270 41842074 0.76 [{'connected_gene': 'MIR33A', 'score': 12.64}, {'connected_gene': 'SHISA8', 'score': 12.61}, {'connected_gene': 'CENPM', 'score': 11.53}, {'connected_gene': 'RNU6ATAC22P', 'score': 10.77}, {'connected_gene': 'CYP2D6', 'score': 9.1}, {'connected_gene': 'MEI1', 'score': 8.1}, {'connected_gene': 'NDUFA6', 'score': 8.01}, {'connected_gene': 'SREBF2', 'score': 0.44}, {'connected_gene': 'ENSG00000184068', 'score': 0.44}]
chr22 GH22I041953 41951957 41952206 0.65 [{'connected_gene': 'LINC00634', 'score': 550.77}, {'connected_gene': 'SMDT1', 'score': 8.56}, {'connected_gene': 'CENPM', 'score': 0.77}]
chr22 GH22I041951 41951257 41951406 0.59 [{'connected_gene': 'LINC00634', 'score': 550.77}, {'connected_gene': 'WBP2NL', 'score': 11.11}, {'connected_gene': 'CENPM', 'score': 0.77}]
chr22 GH22I041950 41950997 41951186 0.65 [{'connected_gene': 'LINC00634', 'score': 550.77}, {'connected_gene': 'CYP2D6', 'score': 21.62}, {'connected_gene': 'CENPM', 'score': 0.77}]
chr22 GH22I041559 41559609 41566555 1.84 [{'connected_gene': 'CSDC2', 'score': 565.63}, {'connected_gene': 'MEI1', 'score': 23.73}, {'connected_gene': 'POLR3H', 'score': 21.21}, {'connected_gene': 'DESI1', 'score': 11.55}, {'connected_gene': 'XRCC6', 'score': 11.55}, {'connected_gene': 'PHF5A', 'score': 10.51}, {'connected_gene': 'SLC25A17', 'score': 9.73}, {'connected_gene': 'EP300', 'score': 9.72}, {'connected_gene': 'RANGAP1', 'score': 4.87}, {'connected_gene': 'CENPM', 'score': 4.43}, {'connected_gene': 'LOC105373044', 'score': 0.77}, {'connected_gene': 'GC22M042641', 'score': 0.44}]
chr22 GH22I041839 41838373 41838780 0.51 [{'connected_gene': 'EP300', 'score': 16.53}, {'connected_gene': 'PHF5A', 'score': 12.72}, {'connected_gene': 'CENPM', 'score': 11.53}, {'connected_gene': 'ENSG00000232754', 'score': 11.3}, {'connected_gene': 'XRCC6', 'score': 11.11}, {'connected_gene': 'RN7SKP80', 'score': 10.69}, {'connected_gene': 'RPL5P34', 'score': 10.25}, {'connected_gene': 'RNU6ATAC22P', 'score': 10.09}, {'connected_gene': 'XPNPEP3', 'score': 7.18}, {'connected_gene': 'ENSG00000184068', 'score': 0.77}, {'connected_gene': 'SREBF2', 'score': 0.44}, {'connected_gene': 'MIR33A', 'score': 0.21}]
chr22 GH22I041892 41892580 41895239 0.31 [{'connected_gene': 'MEI1', 'score': 12.68}, {'connected_gene': 'CENPM', 'score': 11.22}, {'connected_gene': 'SNU13', 'score': 10.57}, {'connected_gene': 'C22orf46', 'score': 10.57}, {'connected_gene': 'SMDT1', 'score': 10.54}, {'connected_gene': 'RNU6ATAC22P', 'score': 10.37}, {'connected_gene': 'TNFRSF13C', 'score': 6.11}, {'connected_gene': 'WBP2NL', 'score': 4.54}, {'connected_gene': 'MIR33A', 'score': 0.44}, {'connected_gene': 'ENSG00000184068', 'score': 0.22}, {'connected_gene': 'SREBF2', 'score': 0.21}]
chr22 GH22I041837 41837901 41838291 0.2 [{'connected_gene': 'MEI1', 'score': 14.71}, {'connected_gene': 'CENPM', 'score': 11.53}, {'connected_gene': 'RNU6ATAC22P', 'score': 10.09}, {'connected_gene': 'ENSG00000184068', 'score': 0.77}, {'connected_gene': 'SREBF2', 'score': 0.44}, {'connected_gene': 'MIR33A', 'score': 0.21}]
chr22 GH22I041856 41856188 41863840 1.51 [{'connected_gene': 'MEI1', 'score': 25.9}, {'connected_gene': 'CYP2D6', 'score': 16.11}, {'connected_gene': 'CENPM', 'score': 13.66}, {'connected_gene': 'SREBF2', 'score': 12.89}, {'connected_gene': 'ENSG00000184068', 'score': 12.89}, {'connected_gene': 'TNFRSF13C', 'score': 11.69}, {'connected_gene': 'RNU6ATAC22P', 'score': 10.74}, {'connected_gene': 'NDUFA6', 'score': 5.56}, {'connected_gene': 'POLR3H', 'score': 4.23}, {'connected_gene': 'SMDT1', 'score': 4.14}, {'connected_gene': 'MIR33A', 'score': 0.26}]
chr22 GH22I041918 41918801 41929794 2.63 [{'connected_gene': 'TNFRSF13C', 'score': 566.18}, {'connected_gene': 'MIR378I', 'score': 550.77}, {'connected_gene': 'GC22M042615', 'score': 550.77}, {'connected_gene': 'NDUFA6', 'score': 31.31}, {'connected_gene': 'SMDT1', 'score': 18.11}, {'connected_gene': 'CYP2D8P', 'score': 7.97}, {'connected_gene': 'CSDC2', 'score': 5.22}, {'connected_gene': 'CENPM', 'score': 4.5}, {'connected_gene': 'SHISA8', 'score': 3.41}]
chr22 GH22I042217 42217201 42218400 0.69 [{'connected_gene': 'CYP2D6', 'score': 45.7}, {'connected_gene': 'SMDT1', 'score': 41.68}, {'connected_gene': 'CYP2D7', 'score': 11.66}, {'connected_gene': 'ENSG00000232710', 'score': 11.65}, {'connected_gene': 'NFAM1', 'score': 11.19}, {'connected_gene': 'NAGA', 'score': 9.38}, {'connected_gene': 'FAM109B', 'score': 9.37}, {'connected_gene': 'CENPM', 'score': 9.19}, {'connected_gene': 'PIR32029', 'score': 0.77}, {'connected_gene': 'GC22P042256', 'score': 0.44}, {'connected_gene': 'TCF20', 'score': 0.13}]
chr22 GH22I042176 42176447 42184599 1.3 [{'connected_gene': 'CYP2D6', 'score': 35.01}, {'connected_gene': 'TCF20', 'score': 20.14}, {'connected_gene': 'SMDT1', 'score': 11.53}, {'connected_gene': 'NFAM1', 'score': 11.14}, {'connected_gene': 'NDUFA6', 'score': 10.54}, {'connected_gene': 'NDUFA6-AS1', 'score': 10.54}, {'connected_gene': 'RNU6ATAC22P', 'score': 9.74}, {'connected_gene': 'ENSG00000227370', 'score': 8.09}, {'connected_gene': 'MEI1', 'score': 6.16}, {'connected_gene': 'CENPM', 'score': 4.76}, {'connected_gene': 'CCDC134', 'score': 1.32}, {'connected_gene': 'CYP2D8P', 'score': 0.31}, {'connected_gene': 'PIR32029', 'score': 0.29}]
chr22 GH22I041949 41949520 41950362 1.16 [{'connected_gene': 'CYP2D6', 'score': 7.17}, {'connected_gene': 'SNU13', 'score': 5.34}, {'connected_gene': 'LINC00634', 'score': 0.77}, {'connected_gene': 'CENPM', 'score': 0.77}]
chr22 GH22I041884 41884859 41886453 0.51 [{'connected_gene': 'CYP2D6', 'score': 16.74}, {'connected_gene': 'SHISA8', 'score': 12.74}, {'connected_gene': 'SREBF2', 'score': 12.66}, {'connected_gene': 'TNFRSF13C', 'score': 11.4}, {'connected_gene': 'CENPM', 'score': 11.03}, {'connected_gene': 'RNU6ATAC22P', 'score': 10.6}, {'connected_gene': 'SMDT1', 'score': 5.61}, {'connected_gene': 'MIR33A', 'score': 0.37}, {'connected_gene': 'ENSG00000184068', 'score': 0.23}]
chr22 GH22I041883 41883419 41884746 0.79 [{'connected_gene': 'CYP2D6', 'score': 15.49}, {'connected_gene': 'SHISA8', 'score': 12.94}, {'connected_gene': 'SREBF2', 'score': 12.88}, {'connected_gene': 'TNFRSF13C', 'score': 11.41}, {'connected_gene': 'CENPM', 'score': 11.31}, {'connected_gene': 'RNU6ATAC22P', 'score': 10.99}, {'connected_gene': 'WBP2NL', 'score': 10.28}, {'connected_gene': 'SMDT1', 'score': 8.62}, {'connected_gene': 'MEI1', 'score': 6.64}, {'connected_gene': 'NDUFA6', 'score': 5.66}, {'connected_gene': 'MIR33A', 'score': 0.37}, {'connected_gene': 'ENSG00000184068', 'score': 0.25}]
chr22 GH22I041843 41843300 41845674 1.11 [{'connected_gene': 'CYP2D6', 'score': 14.93}, {'connected_gene': 'MEI1', 'score': 14.56}, {'connected_gene': 'TNFRSF13C', 'score': 11.89}, {'connected_gene': 'RNU6ATAC22P', 'score': 11.03}, {'connected_gene': 'CENPM', 'score': 10.96}, {'connected_gene': 'NDUFA6', 'score': 8.47}, {'connected_gene': 'CYP2D8P', 'score': 6.0}, {'connected_gene': 'ENSG00000184068', 'score': 0.44}, {'connected_gene': 'SREBF2', 'score': 0.39}, {'connected_gene': 'MIR33A', 'score': 0.22}]
chr22 GH22I041779 41779625 41783260 0.94 [{'connected_gene': 'GC22M042659', 'score': 550.77}, {'connected_gene': 'MEI1', 'score': 35.14}, {'connected_gene': 'NDUFA6', 'score': 18.5}, {'connected_gene': 'SREBF2', 'score': 11.85}, {'connected_gene': 'ENSG00000184068', 'score': 11.85}, {'connected_gene': 'RNU6ATAC22P', 'score': 11.59}, {'connected_gene': 'XPNPEP3', 'score': 5.69}, {'connected_gene': 'CENPM', 'score': 5.01}, {'connected_gene': 'PIR33994', 'score': 0.44}]
chr22 GH22I041696 41696576 41698038 1.06 [{'connected_gene': 'PIR60459', 'score': 550.77}, {'connected_gene': 'RNU6ATAC22P', 'score': 11.53}, {'connected_gene': 'CENPM', 'score': 10.93}, {'connected_gene': 'DESI1', 'score': 10.43}, {'connected_gene': 'XRCC6', 'score': 10.43}, {'connected_gene': 'PIR32740', 'score': 0.77}, {'connected_gene': 'C22orf46', 'score': 0.44}]

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