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
ENST00000320785 [[4901242, 4901451], [4903144, 4903265], [4903514, 4903647], [4904066, 4904143], [4904516, 4904696], [4905353, 4905419], [4905758, 4905937], [4906025, 4906137], [4906906, 4906984], [4907145, 4907211], [4907292, 4907368], [4907861, 4907940], [4908149, 4908295], [4910209, 4910379], [4910557, 4910637], [4910761, 4910837], [4916947, 4917027], [4918037, 4918132], [4923290, 4923374], [4923786, 4923973], [4924100, 4924173], [4925386, 4926004], [4926762, 4931696]] [[4903541, 4903647], [4904066, 4904143], [4904516, 4904696], [4905353, 4905419], [4905758, 4905937], [4906025, 4906137], [4906906, 4906984], [4907145, 4907211], [4907292, 4907368], [4907861, 4907940], [4908149, 4908295], [4910209, 4910379], [4910557, 4910637], [4910761, 4910837], [4916947, 4917027], [4918037, 4918132], [4923290, 4923374], [4923786, 4923973], [4924100, 4924173], [4925386, 4926004], [4926762, 4927446]]
ENST00000574165 [[4901248, 4901451], [4902307, 4902341], [4903144, 4903265], [4903514, 4903647], [4904066, 4904143], [4904516, 4904696], [4905353, 4905404]] [[4903541, 4903647], [4904066, 4904143], [4904516, 4904696], [4905353, 4905404]]
ENST00000572959 [[4910759, 4910837], [4914857, 4915369]] None
ENST00000573815 [[4917488, 4917601], [4918037, 4918132], [4923290, 4923374], [4923786, 4923973], [4924100, 4924173], [4925386, 4925560]] None
NM_006612 [[4901242, 4901451], [4903144, 4903265], [4903514, 4903647], [4904066, 4904143], [4904516, 4904696], [4905353, 4905419], [4905758, 4905937], [4906025, 4906137], [4906906, 4906984], [4907145, 4907211], [4907292, 4907368], [4907861, 4907940], [4908149, 4908295], [4910209, 4910379], [4910557, 4910637], [4910761, 4910837], [4916947, 4917027], [4918037, 4918132], [4923290, 4923374], [4923786, 4923973], [4924100, 4924173], [4925386, 4926004], [4926762, 4931694]] [[4903541, 4903647], [4904066, 4904143], [4904516, 4904696], [4905353, 4905419], [4905758, 4905937], [4906025, 4906137], [4906906, 4906984], [4907145, 4907211], [4907292, 4907368], [4907861, 4907940], [4908149, 4908295], [4910209, 4910379], [4910557, 4910637], [4910761, 4910837], [4916947, 4917027], [4918037, 4918132], [4923290, 4923374], [4923786, 4923973], [4924100, 4924173], [4925386, 4926004], [4926762, 4927446]]
Promoter
Chrom Start End Description
chr17 4900999 4901042 CAGE_peak_3_at_KIF1C_5end
chr17 4901199 4901291 CAGE_peak_1_at_KIF1C_5end
chr17 4902995 4903008 CAGE_peak_4_at_KIF1C_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I005044 5044086 5046420 0.62 [{'connected_gene': 'SPAG7', 'score': 36.15}, {'connected_gene': 'CAMTA2', 'score': 26.32}, {'connected_gene': 'ENO3', 'score': 25.71}, {'connected_gene': 'ENSG00000234203', 'score': 11.77}, {'connected_gene': 'KIF1C', 'score': 11.73}, {'connected_gene': 'INCA1', 'score': 11.73}, {'connected_gene': 'PFN1', 'score': 11.52}, {'connected_gene': 'ZFP3', 'score': 11.49}, {'connected_gene': 'USP6', 'score': 10.7}, {'connected_gene': 'GP1BA', 'score': 7.73}, {'connected_gene': 'SLC52A1', 'score': 7.44}, {'connected_gene': 'LOC105371501', 'score': 0.39}, {'connected_gene': 'LOC105371502', 'score': 0.39}, {'connected_gene': 'GC17P005013', 'score': 0.29}]
chr17 GH17I005041 5041779 5043159 0.91 [{'connected_gene': 'SPAG7', 'score': 37.54}, {'connected_gene': 'ENO3', 'score': 25.09}, {'connected_gene': 'ENSG00000234203', 'score': 11.78}, {'connected_gene': 'KIF1C', 'score': 11.74}, {'connected_gene': 'INCA1', 'score': 11.74}, {'connected_gene': 'CAMTA2', 'score': 11.57}, {'connected_gene': 'ZFP3', 'score': 11.47}, {'connected_gene': 'PFN1', 'score': 11.11}, {'connected_gene': 'SLC52A1', 'score': 0.44}, {'connected_gene': 'LOC105371501', 'score': 0.39}, {'connected_gene': 'LOC105371502', 'score': 0.39}, {'connected_gene': 'GC17P005013', 'score': 0.31}]
chr17 GH17I004974 4974918 4975883 0.38 [{'connected_gene': 'SPAG7', 'score': 20.83}, {'connected_gene': 'KIF1C', 'score': 6.68}, {'connected_gene': 'ENSG00000234203', 'score': 0.77}, {'connected_gene': 'CAMTA2', 'score': 0.39}, {'connected_gene': 'ENSG00000262678', 'score': 0.39}]
chr17 GH17I004965 4965941 4971291 2.3 [{'connected_gene': 'SPAG7', 'score': 586.94}, {'connected_gene': 'ENSG00000262429', 'score': 550.77}, {'connected_gene': 'MIR6864', 'score': 550.77}, {'connected_gene': 'MIR6865', 'score': 550.77}, {'connected_gene': 'PIR49988', 'score': 550.77}, {'connected_gene': 'ZNF232', 'score': 44.19}, {'connected_gene': 'NUP88', 'score': 35.27}, {'connected_gene': 'MIS12', 'score': 27.11}, {'connected_gene': 'INCA1', 'score': 23.43}, {'connected_gene': 'CHRNE', 'score': 22.94}, {'connected_gene': 'ZZEF1', 'score': 20.65}, {'connected_gene': 'ANKFY1', 'score': 20.12}, {'connected_gene': 'RPAIN', 'score': 20.02}, {'connected_gene': 'DHX33', 'score': 19.17}, {'connected_gene': 'KIF1C', 'score': 19.13}, {'connected_gene': 'LOC101927979', 'score': 18.94}, {'connected_gene': 'CAMTA2', 'score': 12.91}, {'connected_gene': 'SLC25A11', 'score': 12.31}, {'connected_gene': 'RNF167', 'score': 12.31}, {'connected_gene': 'LOC100130950', 'score': 11.55}, {'connected_gene': 'DERL2', 'score': 10.72}, {'connected_gene': 'ENSG00000262678', 'score': 10.43}, {'connected_gene': 'ENSG00000263272', 'score': 10.06}, {'connected_gene': 'MYBBP1A', 'score': 9.96}]
chr17 GH17I004996 4996746 5000947 1.99 [{'connected_gene': 'INCA1', 'score': 558.49}, {'connected_gene': 'KIF1C', 'score': 558.21}, {'connected_gene': 'CHRNE', 'score': 27.51}, {'connected_gene': 'ZNF232', 'score': 21.97}, {'connected_gene': 'NUP88', 'score': 20.98}, {'connected_gene': 'MIS12', 'score': 19.18}, {'connected_gene': 'ZZEF1', 'score': 19.11}, {'connected_gene': 'CAMTA2', 'score': 15.12}, {'connected_gene': 'DERL2', 'score': 12.71}, {'connected_gene': 'ENSG00000234203', 'score': 12.05}, {'connected_gene': 'SPAG7', 'score': 12.03}, {'connected_gene': 'SLC25A11', 'score': 11.76}, {'connected_gene': 'RNF167', 'score': 11.76}, {'connected_gene': 'PFN1', 'score': 11.53}, {'connected_gene': 'ENO3', 'score': 11.52}, {'connected_gene': 'ENSG00000262678', 'score': 10.82}, {'connected_gene': 'LOC101927979', 'score': 10.81}, {'connected_gene': 'GC17M005004', 'score': 0.39}]
chr17 GH17I005199 5199445 5201534 0.85 [{'connected_gene': 'CAMTA2', 'score': 10.98}, {'connected_gene': 'USP6', 'score': 10.51}, {'connected_gene': 'SCIMP', 'score': 8.31}, {'connected_gene': 'ENSG00000263164', 'score': 6.66}, {'connected_gene': 'CHRNE', 'score': 5.43}, {'connected_gene': 'KIF1C', 'score': 4.6}, {'connected_gene': 'LOC100130950', 'score': 0.44}, {'connected_gene': 'PIR60028', 'score': 0.39}]
chr17 GH17I005047 5047143 5047982 0.44 [{'connected_gene': 'CAMTA2', 'score': 26.21}, {'connected_gene': 'ENO3', 'score': 25.37}, {'connected_gene': 'SPAG7', 'score': 19.16}, {'connected_gene': 'ZFP3', 'score': 11.37}, {'connected_gene': 'PFN1', 'score': 11.19}, {'connected_gene': 'KIF1C', 'score': 10.82}, {'connected_gene': 'INCA1', 'score': 10.82}, {'connected_gene': 'USP6', 'score': 10.38}, {'connected_gene': 'SLC52A1', 'score': 0.77}, {'connected_gene': 'LOC105371501', 'score': 0.37}, {'connected_gene': 'LOC105371502', 'score': 0.37}]
chr17 GH17I005048 5048659 5051029 0.58 [{'connected_gene': 'ENO3', 'score': 25.46}, {'connected_gene': 'SPAG7', 'score': 24.45}, {'connected_gene': 'CHRNE', 'score': 21.13}, {'connected_gene': 'CAMTA2', 'score': 11.7}, {'connected_gene': 'ZFP3', 'score': 11.51}, {'connected_gene': 'PFN1', 'score': 11.2}, {'connected_gene': 'KIF1C', 'score': 11.13}, {'connected_gene': 'INCA1', 'score': 11.13}, {'connected_gene': 'LOC101928000', 'score': 11.0}, {'connected_gene': 'ZNF232', 'score': 10.99}, {'connected_gene': 'USP6', 'score': 10.6}, {'connected_gene': 'SLC52A1', 'score': 0.77}, {'connected_gene': 'LOC105371501', 'score': 0.37}, {'connected_gene': 'LOC105371502', 'score': 0.37}]
chr17 GH17I004533 4533272 4538827 1.2 [{'connected_gene': 'GGT6', 'score': 13.07}, {'connected_gene': 'SPNS2', 'score': 12.24}, {'connected_gene': 'ENSG00000229782', 'score': 12.24}, {'connected_gene': 'MYBBP1A', 'score': 7.26}, {'connected_gene': 'C17orf107', 'score': 4.95}, {'connected_gene': 'KIF1C', 'score': 4.48}, {'connected_gene': 'GC17P004547', 'score': 0.44}, {'connected_gene': 'PIR35626', 'score': 0.44}, {'connected_gene': 'PIR53941', 'score': 0.37}]
chr17 GH17I004489 4489500 4494015 1.33 [{'connected_gene': 'GGT6', 'score': 11.14}, {'connected_gene': 'KIF1C', 'score': 5.6}, {'connected_gene': 'ENSG00000262823', 'score': 5.58}, {'connected_gene': 'SPNS2', 'score': 0.44}]
chr17 GH17I005016 5016396 5017477 0.52 [{'connected_gene': 'CHRNE', 'score': 22.13}, {'connected_gene': 'ENSG00000234203', 'score': 12.24}, {'connected_gene': 'SPAG7', 'score': 12.22}, {'connected_gene': 'CAMTA2', 'score': 11.96}, {'connected_gene': 'PFN1', 'score': 11.62}, {'connected_gene': 'ENO3', 'score': 11.62}, {'connected_gene': 'SLC25A11', 'score': 11.23}, {'connected_gene': 'RNF167', 'score': 11.23}, {'connected_gene': 'ZFP3', 'score': 10.95}, {'connected_gene': 'USP6', 'score': 10.03}, {'connected_gene': 'GC17P005013', 'score': 0.77}, {'connected_gene': 'LOC102724009', 'score': 0.77}, {'connected_gene': 'KIF1C', 'score': 0.37}]
chr17 GH17I004980 4980166 4981105 0.72 [{'connected_gene': 'CHRNE', 'score': 22.9}, {'connected_gene': 'KIF1C', 'score': 6.71}, {'connected_gene': 'ENSG00000234203', 'score': 0.44}, {'connected_gene': 'CAMTA2', 'score': 0.44}, {'connected_gene': 'ENSG00000262678', 'score': 0.44}]
chr17 GH17I004908 4908030 4910589 1.43 [{'connected_gene': 'CHRNE', 'score': 34.5}, {'connected_gene': 'LOC101927979', 'score': 23.97}, {'connected_gene': 'ZNF232', 'score': 23.48}, {'connected_gene': 'ENSG00000263220', 'score': 20.29}, {'connected_gene': 'ZNF594', 'score': 16.1}, {'connected_gene': 'RPAIN', 'score': 15.56}, {'connected_gene': 'LOC100130950', 'score': 15.16}, {'connected_gene': 'ENO3', 'score': 14.51}, {'connected_gene': 'DHX33', 'score': 13.14}, {'connected_gene': 'MIS12', 'score': 12.29}, {'connected_gene': 'ENSG00000235085', 'score': 11.69}, {'connected_gene': 'ANKFY1', 'score': 11.09}, {'connected_gene': 'PELP1', 'score': 10.86}, {'connected_gene': 'ZZEF1', 'score': 10.62}, {'connected_gene': 'ENSG00000263272', 'score': 10.11}, {'connected_gene': 'ZFP3', 'score': 8.24}, {'connected_gene': 'C17orf107', 'score': 7.49}, {'connected_gene': 'ENSG00000262165', 'score': 6.96}, {'connected_gene': 'CAMTA2', 'score': 6.1}, {'connected_gene': 'KIF1C', 'score': 2.0}, {'connected_gene': 'SMTNL2', 'score': 1.67}, {'connected_gene': 'GP1BA', 'score': 0.34}]
chr17 GH17I005030 5030602 5032564 1.06 [{'connected_gene': 'LOC105371501', 'score': 550.77}, {'connected_gene': 'LOC105371502', 'score': 550.77}, {'connected_gene': 'SPAG7', 'score': 32.07}, {'connected_gene': 'CHRNE', 'score': 21.04}, {'connected_gene': 'CAMTA2', 'score': 14.69}, {'connected_gene': 'KIF1C', 'score': 7.78}, {'connected_gene': 'GC17P005013', 'score': 0.37}]
chr17 GH17I005012 5012046 5012235 0.57 [{'connected_gene': 'GC17M005004', 'score': 550.77}, {'connected_gene': 'GC17P005013', 'score': 550.77}, {'connected_gene': 'ENSG00000234203', 'score': 12.25}, {'connected_gene': 'SPAG7', 'score': 12.24}, {'connected_gene': 'CAMTA2', 'score': 11.99}, {'connected_gene': 'PFN1', 'score': 11.63}, {'connected_gene': 'ENO3', 'score': 11.63}, {'connected_gene': 'SLC25A11', 'score': 11.24}, {'connected_gene': 'RNF167', 'score': 11.24}, {'connected_gene': 'ZFP3', 'score': 10.95}, {'connected_gene': 'USP6', 'score': 10.03}, {'connected_gene': 'KIF1C', 'score': 0.39}]
chr17 GH17I005017 5017606 5017755 0.2 [{'connected_gene': 'ENSG00000234203', 'score': 12.24}, {'connected_gene': 'SPAG7', 'score': 12.22}, {'connected_gene': 'CAMTA2', 'score': 11.94}, {'connected_gene': 'PFN1', 'score': 11.62}, {'connected_gene': 'ENO3', 'score': 11.62}, {'connected_gene': 'SLC25A11', 'score': 11.23}, {'connected_gene': 'RNF167', 'score': 11.23}, {'connected_gene': 'ZFP3', 'score': 10.95}, {'connected_gene': 'USP6', 'score': 10.03}, {'connected_gene': 'GC17P005013', 'score': 0.77}, {'connected_gene': 'LOC102724009', 'score': 0.77}, {'connected_gene': 'KIF1C', 'score': 0.37}]
chr17 GH17I005043 5043379 5043787 0.38 [{'connected_gene': 'ENSG00000234203', 'score': 11.77}, {'connected_gene': 'SPAG7', 'score': 11.76}, {'connected_gene': 'KIF1C', 'score': 11.73}, {'connected_gene': 'INCA1', 'score': 11.73}, {'connected_gene': 'CAMTA2', 'score': 11.56}, {'connected_gene': 'ZFP3', 'score': 11.49}, {'connected_gene': 'PFN1', 'score': 11.11}, {'connected_gene': 'ENO3', 'score': 11.1}, {'connected_gene': 'SLC52A1', 'score': 0.44}, {'connected_gene': 'LOC105371501', 'score': 0.39}, {'connected_gene': 'LOC105371502', 'score': 0.39}, {'connected_gene': 'GC17P005013', 'score': 0.31}]
chr17 GH17I004801 4801202 4801581 0.24 [{'connected_gene': 'ENSG00000262165', 'score': 17.19}, {'connected_gene': 'MINK1', 'score': 11.62}, {'connected_gene': 'ZNF232', 'score': 3.69}, {'connected_gene': 'KIF1C', 'score': 1.35}, {'connected_gene': 'PSMB6', 'score': 0.44}, {'connected_gene': 'GC17M004737', 'score': 0.29}]

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