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
ENST00000487931 [[78444858, 78444977], [78478734, 78479303], [78481697, 78481958]] None
ENST00000477671 [[78444915, 78444977], [78446888, 78446986], [78458437, 78458550], [78478734, 78479198]] None
ENST00000484662 [[78444964, 78445303], [78478734, 78479301]] None
ENST00000426517 [[78445867, 78446006], [78470763, 78471005], [78478734, 78479039]] [[78470794, 78471005], [78478734, 78479039]]
ENST00000370763 [[78470537, 78471005], [78478734, 78479303], [78481697, 78483648]] [[78470794, 78471005], [78478734, 78479303], [78481697, 78481931]]
ENST00000476396 [[78470618, 78471005], [78481697, 78481983]] None
NM_001317102 [[78444841, 78444977], [78478734, 78479303], [78481697, 78483648]] [[78478868, 78479303], [78481697, 78481931]]
NM_001317101 [[78444841, 78445303], [78478734, 78479303], [78481697, 78483648]] [[78478868, 78479303], [78481697, 78481931]]
NM_001317100 [[78444841, 78445303], [78458437, 78458550], [78478734, 78479303], [78481697, 78483648]] [[78458459, 78458550], [78478734, 78479303], [78481697, 78481931]]
NM_001317099 [[78445867, 78446006], [78470763, 78471005], [78478734, 78479303], [78481697, 78483648]] [[78470794, 78471005], [78478734, 78479303], [78481697, 78481931]]
NM_001317103 [[78470511, 78471005], [78481697, 78483648]] [[78470794, 78471005], [78481697, 78481720]]
NM_007034 [[78470511, 78471005], [78478734, 78479303], [78481697, 78483648]] [[78470794, 78471005], [78478734, 78479303], [78481697, 78481931]]
Promoter
Chrom Start End Description
chr1 78444841 78444869 CAGE_peak_6_at_DNAJB4_5end
chr1 78444874 78444905 CAGE_peak_4_at_DNAJB4_5end
chr1 78444914 78444936 CAGE_peak_9_at_DNAJB4_5end
chr1 78444940 78444963 CAGE_peak_3_at_DNAJB4_5end
chr1 78444969 78445006 CAGE_peak_5_at_DNAJB4_5end
chr1 78470530 78470551 CAGE_peak_7_at_DNAJB4_5end
chr1 78470561 78470583 CAGE_peak_8_at_DNAJB4_5end
chr1 78470588 78470611 CAGE_peak_2_at_DNAJB4_5end
chr1 78470614 78470635 CAGE_peak_1_at_DNAJB4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I077916 77916007 77916066 0.5 [{'connected_gene': 'NEXN', 'score': 550.31}, {'connected_gene': 'NEXN-AS1', 'score': 0.31}, {'connected_gene': 'DNAJB4', 'score': 0.21}]
chr1 GH01I077965 77965998 77967380 0.31 [{'connected_gene': 'NEXN', 'score': 5.54}, {'connected_gene': 'DNAJB4', 'score': 0.39}, {'connected_gene': 'FUBP1', 'score': 0.39}, {'connected_gene': 'NEXN-AS1', 'score': 0.18}]
chr1 GH01I077975 77975531 77981032 2.3 [{'connected_gene': 'GIPC2', 'score': 558.59}, {'connected_gene': 'DNAJB4', 'score': 550.77}, {'connected_gene': 'FUBP1', 'score': 550.77}, {'connected_gene': 'NSRP1P1', 'score': 16.28}, {'connected_gene': 'ENSG00000273338', 'score': 12.57}, {'connected_gene': 'USP33', 'score': 10.11}, {'connected_gene': 'ZZZ3', 'score': 9.74}, {'connected_gene': 'NEXN', 'score': 6.34}, {'connected_gene': 'NEXN-AS1', 'score': 0.17}]
chr1 GH01I077926 77926600 77927001 0.86 [{'connected_gene': 'GIPC2', 'score': 11.42}, {'connected_gene': 'RNA5SP21', 'score': 10.76}, {'connected_gene': 'MIGA1', 'score': 10.76}, {'connected_gene': 'ACTG1P21', 'score': 10.75}, {'connected_gene': 'NEXN-AS1', 'score': 0.28}, {'connected_gene': 'NEXN', 'score': 0.28}, {'connected_gene': 'DNAJB4', 'score': 0.23}]
chr1 GH01I077904 77904171 77905371 0.31 [{'connected_gene': 'MIGA1', 'score': 10.12}, {'connected_gene': 'ACTG1P21', 'score': 10.12}, {'connected_gene': 'RNA5SP21', 'score': 10.11}, {'connected_gene': 'ZZZ3', 'score': 9.75}, {'connected_gene': 'GIPC2', 'score': 7.95}, {'connected_gene': 'NEXN', 'score': 7.14}, {'connected_gene': 'NEXN-AS1', 'score': 0.37}, {'connected_gene': 'DNAJB4', 'score': 0.19}]
chr1 GH01I077680 77680898 77684896 2.1 [{'connected_gene': 'ZZZ3', 'score': 575.81}, {'connected_gene': 'FUBP1', 'score': 48.24}, {'connected_gene': 'RPL17P6', 'score': 33.4}, {'connected_gene': 'ENSG00000273338', 'score': 10.64}, {'connected_gene': 'NEXN', 'score': 10.3}, {'connected_gene': 'GIPC2', 'score': 7.92}, {'connected_gene': 'AK5', 'score': 7.31}, {'connected_gene': 'DNAJB4', 'score': 6.49}, {'connected_gene': 'RN7SL370P', 'score': 0.28}]
chr1 GH01I077945 77945486 77945689 0.51 [{'connected_gene': 'ZZZ3', 'score': 9.85}, {'connected_gene': 'DNAJB4', 'score': 0.29}, {'connected_gene': 'FUBP1', 'score': 0.29}, {'connected_gene': 'NEXN-AS1', 'score': 0.22}, {'connected_gene': 'NEXN', 'score': 0.22}]
chr1 GH01I077947 77947335 77947604 0.71 [{'connected_gene': 'ZZZ3', 'score': 9.85}, {'connected_gene': 'DNAJB4', 'score': 0.29}, {'connected_gene': 'FUBP1', 'score': 0.29}, {'connected_gene': 'NEXN-AS1', 'score': 0.22}, {'connected_gene': 'NEXN', 'score': 0.22}]
chr1 GH01I077946 77946449 77946668 0.51 [{'connected_gene': 'ZZZ3', 'score': 9.85}, {'connected_gene': 'DNAJB4', 'score': 0.29}, {'connected_gene': 'FUBP1', 'score': 0.29}, {'connected_gene': 'NEXN-AS1', 'score': 0.22}, {'connected_gene': 'NEXN', 'score': 0.22}]
chr1 GH01I077952 77952257 77953141 0.31 [{'connected_gene': 'ZZZ3', 'score': 10.41}, {'connected_gene': 'ACTG1P21', 'score': 9.62}, {'connected_gene': 'RNA5SP21', 'score': 9.62}, {'connected_gene': 'MIGA1', 'score': 9.62}, {'connected_gene': 'NEXN', 'score': 5.56}, {'connected_gene': 'DNAJB4', 'score': 0.31}, {'connected_gene': 'FUBP1', 'score': 0.31}, {'connected_gene': 'NEXN-AS1', 'score': 0.21}]
chr1 GH01I077959 77959534 77962825 0.38 [{'connected_gene': 'USP33', 'score': 10.6}, {'connected_gene': 'NEXN', 'score': 6.31}, {'connected_gene': 'DNAJB4', 'score': 0.37}, {'connected_gene': 'FUBP1', 'score': 0.37}, {'connected_gene': 'NEXN-AS1', 'score': 0.19}]
chr1 GH01I077958 77958167 77959481 0.49 [{'connected_gene': 'USP33', 'score': 10.6}, {'connected_gene': 'GIPC2', 'score': 7.45}, {'connected_gene': 'NEXN', 'score': 4.47}, {'connected_gene': 'DNAJB4', 'score': 0.34}, {'connected_gene': 'FUBP1', 'score': 0.34}, {'connected_gene': 'NEXN-AS1', 'score': 0.2}]
chr1 GH01I077937 77937885 77939457 0.31 [{'connected_gene': 'USP33', 'score': 11.25}, {'connected_gene': 'RNA5SP21', 'score': 10.9}, {'connected_gene': 'MIGA1', 'score': 10.9}, {'connected_gene': 'ACTG1P21', 'score': 10.89}, {'connected_gene': 'RNU6-1102P', 'score': 10.58}, {'connected_gene': 'LOC100422537', 'score': 10.58}, {'connected_gene': 'NEXN', 'score': 6.19}, {'connected_gene': 'DNAJB4', 'score': 0.26}, {'connected_gene': 'NEXN-AS1', 'score': 0.25}]
chr1 GH01I077948 77948365 77948632 0.6 [{'connected_gene': 'DNAJB4', 'score': 0.29}, {'connected_gene': 'FUBP1', 'score': 0.29}, {'connected_gene': 'NEXN-AS1', 'score': 0.22}, {'connected_gene': 'NEXN', 'score': 0.22}]
chr1 GH01I077949 77949176 77949325 0.69 [{'connected_gene': 'DNAJB4', 'score': 0.31}, {'connected_gene': 'FUBP1', 'score': 0.31}, {'connected_gene': 'NEXN-AS1', 'score': 0.22}]
chr1 GH01I078002 78002645 78011212 2.76 [{'connected_gene': 'DNAJB4', 'score': 561.9}, {'connected_gene': 'NSRP1P1', 'score': 25.46}, {'connected_gene': 'FUBP1', 'score': 23.06}, {'connected_gene': 'ENSG00000273338', 'score': 13.03}, {'connected_gene': 'USP33', 'score': 11.91}, {'connected_gene': 'ZZZ3', 'score': 9.73}, {'connected_gene': 'GIPC2', 'score': 7.43}, {'connected_gene': 'NEXN', 'score': 6.05}, {'connected_gene': 'LOC100131495', 'score': 0.28}]
chr1 GH01I077991 77991094 77992082 0.49 [{'connected_gene': 'RNU6-1102P', 'score': 11.08}, {'connected_gene': 'LOC100422537', 'score': 11.08}, {'connected_gene': 'GIPC2', 'score': 0.39}, {'connected_gene': 'DNAJB4', 'score': 0.39}, {'connected_gene': 'ENSG00000273338', 'score': 0.39}]
chr1 GH01I077920 77920617 77920662 0.27 [{'connected_gene': 'RNU6-1102P', 'score': 11.05}, {'connected_gene': 'LOC100422537', 'score': 11.05}, {'connected_gene': 'ACTG1P21', 'score': 10.69}, {'connected_gene': 'RNA5SP21', 'score': 10.69}, {'connected_gene': 'MIGA1', 'score': 10.69}, {'connected_gene': 'NEXN', 'score': 8.23}, {'connected_gene': 'NEXN-AS1', 'score': 0.29}, {'connected_gene': 'DNAJB4', 'score': 0.22}]
chr1 GH01I077900 77900796 77900945 0.74 [{'connected_gene': 'ACTG1P21', 'score': 10.52}, {'connected_gene': 'RNA5SP21', 'score': 10.52}, {'connected_gene': 'MIGA1', 'score': 10.52}, {'connected_gene': 'ZZZ3', 'score': 9.65}, {'connected_gene': 'NEXN-AS1', 'score': 0.39}, {'connected_gene': 'NEXN', 'score': 0.39}, {'connected_gene': 'DNAJB4', 'score': 0.18}]