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
ENST00000575780 [[4891424, 4891849], [4892073, 4892239], [4892722, 4892874], [4893184, 4893224], [4893446, 4893560], [4897688, 4897770], [4900297, 4900424], [4900790, 4900905]] [[4891699, 4891849], [4892073, 4892239], [4892722, 4892874], [4893184, 4893224], [4893446, 4893560], [4897688, 4897732]]
ENST00000355025 [[4891424, 4891849], [4892073, 4892239], [4892722, 4892874], [4893184, 4893224], [4893446, 4893560], [4897688, 4897770], [4900135, 4900424], [4900790, 4900905]] [[4891699, 4891849], [4892073, 4892239], [4892722, 4892874], [4893184, 4893224], [4893446, 4893560], [4897688, 4897732]]
ENST00000396829 [[4891425, 4891849], [4892073, 4892239], [4892722, 4892919], [4893184, 4893224], [4893446, 4893560], [4897688, 4897770], [4899100, 4899225], [4900135, 4900424], [4900790, 4900905]] [[4891699, 4891849], [4892073, 4892239], [4892722, 4892919], [4893184, 4893224], [4893446, 4893560], [4897688, 4897732]]
ENST00000576820 [[4891506, 4891849], [4892073, 4892239], [4892722, 4892919], [4893184, 4893224], [4893446, 4893560], [4897688, 4897770], [4900297, 4900328]] [[4891699, 4891849], [4892073, 4892239], [4892722, 4892919], [4893184, 4893224], [4893446, 4893560], [4897688, 4897732]]
ENST00000574617 [[4891506, 4891849], [4892073, 4892239], [4892722, 4892919], [4893184, 4893224], [4893446, 4893560], [4897688, 4897770], [4899100, 4899225], [4900135, 4900328]] [[4891699, 4891849], [4892073, 4892239], [4892722, 4892919], [4893184, 4893224], [4893446, 4893560], [4897688, 4897732]]
NM_001167986 [[4891424, 4891849], [4892073, 4892239], [4892722, 4892919], [4893184, 4893224], [4893446, 4893560], [4897688, 4897770], [4899100, 4899225], [4900135, 4900424], [4900790, 4900905]] [[4891699, 4891849], [4892073, 4892239], [4892722, 4892919], [4893184, 4893224], [4893446, 4893560], [4897688, 4897732]]
NM_213726 [[4891424, 4891849], [4892073, 4892239], [4892722, 4892874], [4893184, 4893224], [4893446, 4893560], [4897688, 4897770], [4900135, 4900424], [4900790, 4900905]] [[4891699, 4891849], [4892073, 4892239], [4892722, 4892874], [4893184, 4893224], [4893446, 4893560], [4897688, 4897732]]
NM_001167987 [[4891424, 4891849], [4892073, 4892239], [4892722, 4892919], [4893184, 4893224], [4893446, 4893560], [4897688, 4897770], [4900297, 4900424], [4900790, 4900905]] [[4891699, 4891849], [4892073, 4892239], [4892722, 4892919], [4893184, 4893224], [4893446, 4893560], [4897688, 4897732]]
NM_001167985 [[4891424, 4891849], [4892073, 4892239], [4892722, 4892874], [4893184, 4893224], [4893446, 4893560], [4897688, 4897770], [4900297, 4900424], [4900790, 4900905]] [[4891699, 4891849], [4892073, 4892239], [4892722, 4892874], [4893184, 4893224], [4893446, 4893560], [4897688, 4897732]]
Promoter
Chrom Start End Description
chr17 4900777 4900780 CAGE_peak_7_at_INCA1_5end
chr17 4900782 4900803 CAGE_peak_3_at_INCA1_5end
chr17 4900804 4900822 CAGE_peak_2_at_INCA1_5end
chr17 4900873 4900893 CAGE_peak_1_at_INCA1_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 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 GH17I005191 5191000 5192801 2.05 [{'connected_gene': 'ZNF594', 'score': 583.09}, {'connected_gene': 'LOC100130950', 'score': 581.18}, {'connected_gene': 'LOC101927979', 'score': 35.52}, {'connected_gene': 'RPAIN', 'score': 31.46}, {'connected_gene': 'ZNF232', 'score': 27.75}, {'connected_gene': 'ANKFY1', 'score': 23.17}, {'connected_gene': 'MIS12', 'score': 22.4}, {'connected_gene': 'PELP1', 'score': 19.17}, {'connected_gene': 'RABEP1', 'score': 13.36}, {'connected_gene': 'DERL2', 'score': 12.72}, {'connected_gene': 'NUP88', 'score': 11.42}, {'connected_gene': 'DHX33', 'score': 10.93}, {'connected_gene': 'INCA1', 'score': 10.76}, {'connected_gene': 'MYBBP1A', 'score': 10.51}, {'connected_gene': 'ENSG00000262678', 'score': 10.51}, {'connected_gene': 'GC17P005122', 'score': 0.2}]
chr17 GH17I004407 4407586 4408471 0.75 [{'connected_gene': 'ZNF232', 'score': 72.77}, {'connected_gene': 'LOC101927979', 'score': 68.11}, {'connected_gene': 'ANKFY1', 'score': 61.08}, {'connected_gene': 'ZNF594', 'score': 47.4}, {'connected_gene': 'LOC100130950', 'score': 41.23}, {'connected_gene': 'ZZEF1', 'score': 34.73}, {'connected_gene': 'MYBBP1A', 'score': 28.87}, {'connected_gene': 'PELP1', 'score': 24.66}, {'connected_gene': 'ENSG00000263220', 'score': 22.0}, {'connected_gene': 'LOC102724009', 'score': 20.35}, {'connected_gene': 'LOC105371492', 'score': 19.83}, {'connected_gene': 'INCA1', 'score': 13.75}, {'connected_gene': 'ENSG00000263164', 'score': 11.18}, {'connected_gene': 'ENSG00000235085', 'score': 10.94}, {'connected_gene': 'ENSG00000262678', 'score': 10.09}, {'connected_gene': 'CYB5D2', 'score': 4.84}, {'connected_gene': 'SPNS3', 'score': 0.31}, {'connected_gene': 'GC17P004368', 'score': 0.28}]
chr17 GH17I005758 5758775 5758970 0.54 [{'connected_gene': 'NUP88', 'score': 16.22}, {'connected_gene': 'ZNF232', 'score': 12.62}, {'connected_gene': 'INCA1', 'score': 12.04}, {'connected_gene': 'WSCD1', 'score': 0.39}, {'connected_gene': 'LOC339166', 'score': 0.39}, {'connected_gene': 'LOC100128284', 'score': 0.31}]
chr17 GH17I005545 5545078 5545294 0.61 [{'connected_gene': 'INCA1', 'score': 11.8}, {'connected_gene': 'ZNF232', 'score': 11.0}, {'connected_gene': 'NLRP1', 'score': 3.88}, {'connected_gene': 'LOC105371507', 'score': 0.44}, {'connected_gene': 'GC17M005386', 'score': 0.2}]
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 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 GH17I004959 4959235 4960074 0.2 [{'connected_gene': 'CAMTA2', 'score': 15.84}, {'connected_gene': 'CHRNE', 'score': 13.8}, {'connected_gene': 'INCA1', 'score': 5.62}, {'connected_gene': 'SPAG7', 'score': 0.44}, {'connected_gene': 'PIR49988', 'score': 0.44}, {'connected_gene': 'PFN1', 'score': 0.39}]
chr17 GH17I004985 4985742 4989436 2.07 [{'connected_gene': 'CAMTA2', 'score': 575.94}, {'connected_gene': 'ENSG00000262678', 'score': 561.2}, {'connected_gene': 'LOC101927979', 'score': 561.18}, {'connected_gene': 'ZNF594', 'score': 27.44}, {'connected_gene': 'LOC100130950', 'score': 24.91}, {'connected_gene': 'CHRNE', 'score': 22.61}, {'connected_gene': 'ZNF232', 'score': 13.42}, {'connected_gene': 'DERL2', 'score': 12.71}, {'connected_gene': 'NUP88', 'score': 11.39}, {'connected_gene': 'MIS12', 'score': 11.13}, {'connected_gene': 'ZZEF1', 'score': 10.97}, {'connected_gene': 'PELP1', 'score': 9.91}, {'connected_gene': 'RPAIN', 'score': 9.85}, {'connected_gene': 'INCA1', 'score': 0.39}]
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 GH17I004937 4937795 4952239 2.34 [{'connected_gene': 'ENO3', 'score': 570.28}, {'connected_gene': 'RNF167', 'score': 556.31}, {'connected_gene': 'SLC25A11', 'score': 550.77}, {'connected_gene': 'PFN1', 'score': 550.77}, {'connected_gene': 'SPAG7', 'score': 30.55}, {'connected_gene': 'CHRNE', 'score': 26.31}, {'connected_gene': 'CAMTA2', 'score': 25.43}, {'connected_gene': 'ZNF594', 'score': 16.2}, {'connected_gene': 'LOC100130950', 'score': 15.94}, {'connected_gene': 'ZZEF1', 'score': 15.9}, {'connected_gene': 'INCA1', 'score': 12.0}, {'connected_gene': 'LOC102724009', 'score': 11.91}, {'connected_gene': 'RPAIN', 'score': 11.62}, {'connected_gene': 'ZNF232', 'score': 11.04}, {'connected_gene': 'PELP1', 'score': 11.03}, {'connected_gene': 'ANKFY1', 'score': 10.85}, {'connected_gene': 'NUP88', 'score': 10.55}, {'connected_gene': 'USP6', 'score': 10.05}, {'connected_gene': 'DERL2', 'score': 9.89}, {'connected_gene': 'PLD2', 'score': 4.64}, {'connected_gene': 'GC17M004950', 'score': 0.77}, {'connected_gene': 'GC17M004948', 'score': 0.77}]
chr17 GH17I004133 4133329 4145755 2.5 [{'connected_gene': 'CYB5D2', 'score': 572.83}, {'connected_gene': 'ZZEF1', 'score': 567.36}, {'connected_gene': 'ZNF232', 'score': 40.93}, {'connected_gene': 'PELP1', 'score': 22.95}, {'connected_gene': 'MYBBP1A', 'score': 21.7}, {'connected_gene': 'LOC101927979', 'score': 20.29}, {'connected_gene': 'ANKFY1', 'score': 14.49}, {'connected_gene': 'INCA1', 'score': 11.79}, {'connected_gene': 'LOC105371492', 'score': 10.04}, {'connected_gene': 'PIR51897', 'score': 0.77}, {'connected_gene': 'GC17P004083', 'score': 0.22}]
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 GH17I004159 4159356 4164867 1.42 [{'connected_gene': 'PIR41779', 'score': 550.77}, {'connected_gene': 'ENSG00000263165', 'score': 550.77}, {'connected_gene': 'ZNF232', 'score': 25.39}, {'connected_gene': 'CYB5D2', 'score': 18.59}, {'connected_gene': 'ANKFY1', 'score': 14.55}, {'connected_gene': 'ENSG00000235085', 'score': 12.33}, {'connected_gene': 'MYBBP1A', 'score': 12.05}, {'connected_gene': 'LOC101927979', 'score': 11.33}, {'connected_gene': 'INCA1', 'score': 10.71}, {'connected_gene': 'ZZEF1', 'score': 10.06}, {'connected_gene': 'PIR45602', 'score': 0.77}, {'connected_gene': 'PIR36155', 'score': 0.77}, {'connected_gene': 'PIR35376', 'score': 0.77}, {'connected_gene': 'GC17P004166', 'score': 0.77}, {'connected_gene': 'GC17P004159', 'score': 0.77}]

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