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
ENST00000441611 [[102033712, 102035250], [102039880, 102039985], [102040690, 102040810], [102045853, 102046114]] [[102035218, 102035250], [102039880, 102039985], [102040690, 102040810], [102045853, 102045896]]
ENST00000370372 [[102034451, 102035250], [102039880, 102039985], [102040690, 102040810], [102045853, 102045970], [102046361, 102046469]] [[102035218, 102035250], [102039880, 102039985], [102040690, 102040810], [102045853, 102045970], [102046361, 102046416]]
ENST00000579542 [[102039797, 102039985], [102040690, 102040810], [102045853, 102045905]] [[102039803, 102039985], [102040690, 102040810], [102045853, 102045905]]
ENST00000361832 [[102040690, 102040810], [102045853, 102046089], [102046361, 102046430]] None
NM_001001342 [[102033034, 102035250], [102039880, 102039985], [102040690, 102040810], [102045853, 102046121]] [[102035218, 102035250], [102039880, 102039985], [102040690, 102040810], [102045853, 102045896]]
NM_001282438 [[102033034, 102035250], [102039880, 102039985], [102040690, 102040810], [102045853, 102045970], [102046057, 102046135]] [[102035218, 102035250], [102039880, 102039985], [102040690, 102040810], [102045853, 102045896]]
NM_001282437 [[102033034, 102035250], [102039880, 102039985], [102040690, 102040810], [102045853, 102046089], [102046361, 102046469]] [[102035218, 102035250], [102039880, 102039985], [102040690, 102040810], [102045853, 102045896]]
NM_001282436 [[102033034, 102035250], [102039880, 102039985], [102040690, 102040810], [102042662, 102042770], [102045853, 102045970], [102046361, 102046469]] [[102035218, 102035250], [102039880, 102039985], [102040690, 102040810], [102042662, 102042693]]
NM_173809 [[102033034, 102035250], [102039880, 102039985], [102040690, 102040810], [102045853, 102045970], [102046361, 102046469]] [[102035218, 102035250], [102039880, 102039985], [102040690, 102040810], [102045853, 102045970], [102046361, 102046416]]
NM_001282439 [[102033034, 102035247], [102039880, 102039985], [102040690, 102040810], [102045853, 102045970], [102046361, 102046469]] [[102035218, 102035247], [102039880, 102039985], [102040690, 102040810], [102045853, 102045970], [102046361, 102046416]]
Promoter
Chrom Start End Description
chr10 102045882 102045902 CAGE_peak_3_at_BLOC1S2_5end
chr10 102045966 102045985 CAGE_peak_4_at_BLOC1S2_5end
chr10 102046098 102046122 CAGE_peak_2_at_BLOC1S2_5end
chr10 102046417 102046465 CAGE_peak_1_at_BLOC1S2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I100341 100341000 100343043 1.35 [{'connected_gene': 'PKD2L1', 'score': 24.73}, {'connected_gene': 'WNT8B', 'score': 10.97}, {'connected_gene': 'CWF19L1', 'score': 10.71}, {'connected_gene': 'RNU6-422P', 'score': 10.12}, {'connected_gene': 'ENSG00000231188', 'score': 0.77}, {'connected_gene': 'BLOC1S2', 'score': 0.22}]
chr10 GH10I100330 100330218 100330277 0.5 [{'connected_gene': 'PKD2L1', 'score': 550.37}, {'connected_gene': 'ENSG00000231188', 'score': 0.37}, {'connected_gene': 'BLOC1S2', 'score': 0.26}]
chr10 GH10I100331 100330518 100330577 0.61 [{'connected_gene': 'PKD2L1', 'score': 550.37}, {'connected_gene': 'ENSG00000231188', 'score': 0.37}, {'connected_gene': 'BLOC1S2', 'score': 0.26}]
chr10 GH10I100339 100338802 100339754 1.09 [{'connected_gene': 'PKD2L1', 'score': 24.85}, {'connected_gene': 'SEC31B', 'score': 10.07}, {'connected_gene': 'HIF1AN', 'score': 10.07}, {'connected_gene': 'NDUFB8', 'score': 10.07}, {'connected_gene': 'ENSG00000255339', 'score': 10.07}, {'connected_gene': 'ENSG00000231188', 'score': 0.44}, {'connected_gene': 'BLOC1S2', 'score': 0.23}]
chr10 GH10I100333 100333247 100335481 0.68 [{'connected_gene': 'PKD2L1', 'score': 23.24}, {'connected_gene': 'SEC31B', 'score': 6.48}, {'connected_gene': 'ENSG00000231188', 'score': 0.39}, {'connected_gene': 'BLOC1S2', 'score': 0.25}]
chr10 GH10I100326 100326312 100327865 1.13 [{'connected_gene': 'PKD2L1', 'score': 5.96}, {'connected_gene': 'DNMBP', 'score': 5.0}, {'connected_gene': 'CHUK', 'score': 4.4}, {'connected_gene': 'BLOC1S2', 'score': 4.05}, {'connected_gene': 'CWF19L1', 'score': 1.63}, {'connected_gene': 'ENSG00000231188', 'score': 0.37}]
chr10 GH10I100190 100190522 100194815 0.56 [{'connected_gene': 'CWF19L1', 'score': 60.48}, {'connected_gene': 'BLOC1S2', 'score': 46.76}, {'connected_gene': 'ENSG00000272572', 'score': 11.3}, {'connected_gene': 'RNU6-422P', 'score': 10.72}, {'connected_gene': 'PDZD7', 'score': 9.66}, {'connected_gene': 'ENSG00000236308', 'score': 0.77}, {'connected_gene': 'CHUK', 'score': 0.28}]
chr10 GH10I100161 100161815 100164845 0.66 [{'connected_gene': 'CWF19L1', 'score': 34.57}, {'connected_gene': 'BLOC1S2', 'score': 19.75}, {'connected_gene': 'ERLIN1', 'score': 16.47}, {'connected_gene': 'ENSG00000236308', 'score': 11.35}, {'connected_gene': 'SPCS2P2', 'score': 0.37}]
chr10 GH10I100169 100169474 100176929 0.68 [{'connected_gene': 'CWF19L1', 'score': 48.2}, {'connected_gene': 'BLOC1S2', 'score': 21.42}, {'connected_gene': 'ERLIN1', 'score': 5.84}, {'connected_gene': 'SEC31B', 'score': 5.56}, {'connected_gene': 'SPCS2P2', 'score': 0.31}]
chr10 GH10I100266 100266661 100268410 2.04 [{'connected_gene': 'CWF19L1', 'score': 609.46}, {'connected_gene': 'BLOC1S2', 'score': 36.6}, {'connected_gene': 'PHBP9', 'score': 25.87}, {'connected_gene': 'CHUK', 'score': 21.23}, {'connected_gene': 'DNMBP', 'score': 18.9}, {'connected_gene': 'ENSG00000236308', 'score': 12.38}, {'connected_gene': 'EBAG9P1', 'score': 11.79}, {'connected_gene': 'RNU6-422P', 'score': 0.44}]
chr10 GH10I100301 100301224 100301373 0.64 [{'connected_gene': 'CWF19L1', 'score': 12.2}, {'connected_gene': 'RNU6-422P', 'score': 10.66}, {'connected_gene': 'BLOC1S2', 'score': 0.39}, {'connected_gene': 'ENSG00000231188', 'score': 0.25}, {'connected_gene': 'PKD2L1', 'score': 0.25}]
chr10 GH10I100156 100156817 100159879 0.67 [{'connected_gene': 'CWF19L1', 'score': 31.86}, {'connected_gene': 'ENSG00000236308', 'score': 22.97}, {'connected_gene': 'EBAG9P1', 'score': 21.09}, {'connected_gene': 'PHBP9', 'score': 19.26}, {'connected_gene': 'ERLIN1', 'score': 16.15}, {'connected_gene': 'DNMBP', 'score': 11.78}, {'connected_gene': 'LZTS2', 'score': 11.43}, {'connected_gene': 'CHUK', 'score': 11.07}, {'connected_gene': 'LOC101927300', 'score': 10.86}, {'connected_gene': 'SLF2', 'score': 10.29}, {'connected_gene': 'SEC31B', 'score': 9.98}, {'connected_gene': 'BLOC1S2', 'score': 8.48}, {'connected_gene': 'SPCS2P2', 'score': 0.39}]
chr10 GH10I100246 100246875 100246934 0.5 [{'connected_gene': 'CWF19L1', 'score': 561.53}, {'connected_gene': 'PHBP9', 'score': 550.77}, {'connected_gene': 'BLOC1S2', 'score': 11.47}, {'connected_gene': 'ENSG00000236308', 'score': 10.32}, {'connected_gene': 'ERLIN1', 'score': 10.32}, {'connected_gene': 'SNORA12', 'score': 0.44}, {'connected_gene': 'GC10M100239', 'score': 0.44}]
chr10 GH10I101189 101189172 101190400 0.74 [{'connected_gene': 'TLX1', 'score': 10.82}, {'connected_gene': 'RNU2-43P', 'score': 10.73}, {'connected_gene': 'DPCD', 'score': 9.97}, {'connected_gene': 'POLL', 'score': 9.97}, {'connected_gene': 'LINC01514', 'score': 4.71}, {'connected_gene': 'BLOC1S2', 'score': 4.1}, {'connected_gene': 'SMARCE1P7', 'score': 0.44}, {'connected_gene': 'GC10M101227', 'score': 0.28}]
chr10 GH10I101071 101070802 101072600 1.2 [{'connected_gene': 'BLOC1S2', 'score': 4.37}, {'connected_gene': 'KAZALD1', 'score': 0.39}, {'connected_gene': 'GC10M101091', 'score': 0.37}]
chr10 GH10I100310 100310904 100311770 0.56 [{'connected_gene': 'BLOC1S2', 'score': 12.12}, {'connected_gene': 'CWF19L1', 'score': 12.05}, {'connected_gene': 'ENSG00000231188', 'score': 11.36}, {'connected_gene': 'SCD', 'score': 11.36}, {'connected_gene': 'MRPL43', 'score': 4.19}, {'connected_gene': 'PKD2L1', 'score': 0.28}]
chr10 GH10I100307 100307736 100308064 0.89 [{'connected_gene': 'BLOC1S2', 'score': 21.85}, {'connected_gene': 'CWF19L1', 'score': 12.05}, {'connected_gene': 'ENSG00000231188', 'score': 11.36}, {'connected_gene': 'SCD', 'score': 11.36}, {'connected_gene': 'MRPL43', 'score': 4.61}, {'connected_gene': 'ERLIN1', 'score': 1.81}, {'connected_gene': 'DNMBP', 'score': 1.23}, {'connected_gene': 'PKD2L1', 'score': 0.28}]
chr10 GH10I100290 100290801 100293274 0.92 [{'connected_gene': 'BLOC1S2', 'score': 27.32}, {'connected_gene': 'CWF19L1', 'score': 11.47}, {'connected_gene': 'RNU6-422P', 'score': 11.43}, {'connected_gene': 'ERLIN1', 'score': 4.72}, {'connected_gene': 'ENSG00000231188', 'score': 0.23}, {'connected_gene': 'PKD2L1', 'score': 0.23}]
chr10 GH10I100283 100283748 100289220 2.06 [{'connected_gene': 'BLOC1S2', 'score': 587.0}, {'connected_gene': 'CWF19L1', 'score': 33.33}, {'connected_gene': 'EBAG9P1', 'score': 16.54}, {'connected_gene': 'RNU6-422P', 'score': 11.44}, {'connected_gene': 'SLC25A28', 'score': 10.91}, {'connected_gene': 'MRPL43', 'score': 10.17}, {'connected_gene': 'LZTS2', 'score': 9.77}, {'connected_gene': 'ERLIN1', 'score': 4.5}, {'connected_gene': 'PKD2L1', 'score': 0.21}]
chr10 GH10I100282 100282987 100283046 0.5 [{'connected_gene': 'BLOC1S2', 'score': 550.77}, {'connected_gene': 'CWF19L1', 'score': 0.37}]
chr10 GH10I100198 100198568 100199733 0.2 [{'connected_gene': 'BLOC1S2', 'score': 36.4}, {'connected_gene': 'ENSG00000236308', 'score': 0.44}, {'connected_gene': 'CHUK', 'score': 0.29}]
chr10 GH10I100148 100148284 100150024 1.36 [{'connected_gene': 'BLOC1S2', 'score': 21.61}, {'connected_gene': 'ERLIN1', 'score': 13.53}, {'connected_gene': 'ENSG00000236308', 'score': 11.41}, {'connected_gene': 'CPN1', 'score': 10.75}, {'connected_gene': 'RNU6-422P', 'score': 10.0}, {'connected_gene': 'CWF19L1', 'score': 9.98}, {'connected_gene': 'CHUK', 'score': 1.61}, {'connected_gene': 'DNMBP', 'score': 1.57}, {'connected_gene': 'SPCS2P2', 'score': 0.44}]
chr10 GH10I100518 100518819 100520377 1.44 [{'connected_gene': 'SEC31B', 'score': 589.88}, {'connected_gene': 'WNT8B', 'score': 11.35}, {'connected_gene': 'BLOC1S2', 'score': 10.53}, {'connected_gene': 'CWF19L1', 'score': 10.52}, {'connected_gene': 'ENSG00000255339', 'score': 0.39}, {'connected_gene': 'GC10M100501', 'score': 0.37}, {'connected_gene': 'GC10M100502', 'score': 0.37}]
chr10 GH10I100270 100270414 100270618 0.22 [{'connected_gene': 'SEC31B', 'score': 3.7}, {'connected_gene': 'CWF19L1', 'score': 0.77}, {'connected_gene': 'BLOC1S2', 'score': 0.37}]
chr10 GH10I100338 100338544 100338713 0.93 [{'connected_gene': 'SEC31B', 'score': 10.07}, {'connected_gene': 'NDUFB8', 'score': 10.07}, {'connected_gene': 'HIF1AN', 'score': 10.07}, {'connected_gene': 'ENSG00000255339', 'score': 10.07}, {'connected_gene': 'ENSG00000231188', 'score': 0.44}, {'connected_gene': 'PKD2L1', 'score': 0.44}, {'connected_gene': 'BLOC1S2', 'score': 0.23}]
chr10 GH10I099993 99993202 99997959 1.62 [{'connected_gene': 'DNMBP', 'score': 31.58}, {'connected_gene': 'BLOC1S2', 'score': 10.11}, {'connected_gene': 'CHUK', 'score': 2.71}, {'connected_gene': 'CWF19L1', 'score': 2.18}, {'connected_gene': 'ENTPD7', 'score': 1.78}, {'connected_gene': 'ERLIN1', 'score': 1.15}, {'connected_gene': 'DNMBP-AS1', 'score': 0.2}]
chr10 GH10I099974 99974324 99980821 1.4 [{'connected_gene': 'DNMBP', 'score': 41.36}, {'connected_gene': 'DNMBP-AS1', 'score': 10.91}, {'connected_gene': 'BLOC1S2', 'score': 1.59}]
chr10 GH10I100228 100228591 100230394 2.05 [{'connected_gene': 'CHUK', 'score': 561.65}, {'connected_gene': 'ENSG00000227492', 'score': 550.77}, {'connected_gene': 'BLOC1S2', 'score': 36.46}, {'connected_gene': 'EBAG9P1', 'score': 26.06}, {'connected_gene': 'MRPL43', 'score': 25.49}, {'connected_gene': 'CWF19L1', 'score': 21.49}, {'connected_gene': 'SLC25A28', 'score': 19.97}, {'connected_gene': 'PHBP9', 'score': 19.46}, {'connected_gene': 'LZTS2', 'score': 18.12}, {'connected_gene': 'ENSG00000236308', 'score': 12.22}, {'connected_gene': 'DNMBP', 'score': 11.74}, {'connected_gene': 'ENSG00000272572', 'score': 11.31}, {'connected_gene': 'PDZD7', 'score': 9.66}]
chr10 GH10I100178 100178830 100187512 2.49 [{'connected_gene': 'ERLIN1', 'score': 561.74}, {'connected_gene': 'BLOC1S2', 'score': 38.65}, {'connected_gene': 'CWF19L1', 'score': 34.81}, {'connected_gene': 'EBAG9P1', 'score': 28.79}, {'connected_gene': 'PHBP9', 'score': 24.66}, {'connected_gene': 'MRPL43', 'score': 23.45}, {'connected_gene': 'CHUK', 'score': 21.68}, {'connected_gene': 'ENSG00000236308', 'score': 19.49}, {'connected_gene': 'ENSG00000272572', 'score': 12.08}, {'connected_gene': 'LOC101927300', 'score': 9.79}, {'connected_gene': 'DNMBP', 'score': 9.78}, {'connected_gene': 'SPCS2P2', 'score': 0.28}]
chr10 GH10I099519 99519272 99525145 1.14 [{'connected_gene': 'EBAG9P1', 'score': 17.57}, {'connected_gene': 'LINC01475', 'score': 16.12}, {'connected_gene': 'SEC31B', 'score': 13.86}, {'connected_gene': 'BLOC1S2', 'score': 4.16}, {'connected_gene': 'ENSG00000228778', 'score': 0.77}, {'connected_gene': 'GC10P099494', 'score': 0.31}]
chr10 GH10I099924 99924512 99933399 1.26 [{'connected_gene': 'DNMBP-AS1', 'score': 558.25}, {'connected_gene': 'DNMBP', 'score': 38.58}, {'connected_gene': 'CWF19L1', 'score': 5.61}, {'connected_gene': 'BLOC1S2', 'score': 5.34}]
chr10 GH10I099707 99707704 99710664 0.97 [{'connected_gene': 'PIR43293', 'score': 550.77}, {'connected_gene': 'PIR46681', 'score': 550.77}, {'connected_gene': 'ENTPD7', 'score': 10.15}, {'connected_gene': 'LOC101927300', 'score': 10.02}, {'connected_gene': 'GOT1', 'score': 10.02}, {'connected_gene': 'NKX2-3', 'score': 10.02}, {'connected_gene': 'BLOC1S2', 'score': 5.2}, {'connected_gene': 'GC10M099706', 'score': 0.77}, {'connected_gene': 'PIR46433', 'score': 0.44}, {'connected_gene': 'CUTC', 'score': 0.44}, {'connected_gene': 'COX15', 'score': 0.34}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.