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
ENST00000370397 [[101948054, 101949384], [101950625, 101950725], [101953054, 101953188], [101953740, 101953888], [101954181, 101954278], [101959727, 101959777], [101960427, 101960537], [101961844, 101961906], [101964262, 101964414], [101964832, 101964956], [101966986, 101967089], [101969351, 101969546], [101977751, 101977887], [101978474, 101978582], [101978764, 101978889], [101979026, 101979116], [101980344, 101980433], [101981868, 101981938], [101982622, 101982737], [101985679, 101985774], [101989184, 101989376]] [[101949354, 101949384], [101950625, 101950725], [101953054, 101953188], [101953740, 101953888], [101954181, 101954278], [101959727, 101959777], [101960427, 101960537], [101961844, 101961906], [101964262, 101964414], [101964832, 101964956], [101966986, 101967089], [101969351, 101969546], [101977751, 101977887], [101978474, 101978582], [101978764, 101978889], [101979026, 101979116], [101980344, 101980433], [101981868, 101981938], [101982622, 101982737], [101985679, 101985774], [101989184, 101989289]]
ENST00000590930 [[101948123, 101949384], [101950625, 101950725], [101952215, 101955699]] None
ENST00000588656 [[101948948, 101949384], [101950625, 101950725], [101953145, 101953188], [101953740, 101953836]] None
ENST00000585551 [[101950427, 101950725], [101953054, 101953180]] None
NM_001278 [[101948054, 101949384], [101950625, 101950725], [101953054, 101953188], [101953740, 101953888], [101954181, 101954278], [101959727, 101959777], [101960427, 101960537], [101961844, 101961906], [101964262, 101964414], [101964832, 101964956], [101966986, 101967089], [101969351, 101969546], [101977751, 101977887], [101978474, 101978582], [101978764, 101978889], [101979026, 101979116], [101980344, 101980433], [101981868, 101981938], [101982622, 101982737], [101985679, 101985774], [101989184, 101989367]] [[101949354, 101949384], [101950625, 101950725], [101953054, 101953188], [101953740, 101953888], [101954181, 101954278], [101959727, 101959777], [101960427, 101960537], [101961844, 101961906], [101964262, 101964414], [101964832, 101964956], [101966986, 101967089], [101969351, 101969546], [101977751, 101977887], [101978474, 101978582], [101978764, 101978889], [101979026, 101979116], [101980344, 101980433], [101981868, 101981938], [101982622, 101982737], [101985679, 101985774], [101989184, 101989289]]
NM_001320928 [[101948054, 101949384], [101950625, 101950725], [101953071, 101953188], [101953740, 101953888], [101954181, 101954278], [101959727, 101959777], [101960427, 101960537], [101961844, 101961906], [101964262, 101964414], [101964832, 101964956], [101966986, 101967089], [101969351, 101969546], [101977751, 101977887], [101978474, 101978582], [101978764, 101978889], [101979026, 101979116], [101980344, 101980433], [101981868, 101981938], [101982622, 101982737], [101985679, 101985774], [101989184, 101989367]] [[101950656, 101950725], [101953071, 101953188], [101953740, 101953888], [101954181, 101954278], [101959727, 101959777], [101960427, 101960537], [101961844, 101961906], [101964262, 101964414], [101964832, 101964956], [101966986, 101967089], [101969351, 101969546], [101977751, 101977887], [101978474, 101978582], [101978764, 101978889], [101979026, 101979116], [101980344, 101980433], [101981868, 101981938], [101982622, 101982737], [101985679, 101985774], [101989184, 101989289]]
Promoter
Chrom Start End Description
chr10 101989315 101989368 CAGE_peak_1_at_CHUK_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH10I100369 100369042 100375845 2.14 [{'connected_gene': 'OLMALINC', 'score': 550.77}, {'connected_gene': 'PHBP9', 'score': 24.82}, {'connected_gene': 'SEC31B', 'score': 21.93}, {'connected_gene': 'EBAG9P1', 'score': 19.65}, {'connected_gene': 'LOC101927300', 'score': 13.51}, {'connected_gene': 'SCD', 'score': 12.9}, {'connected_gene': 'ENSG00000231188', 'score': 12.9}, {'connected_gene': 'CHUK', 'score': 12.04}, {'connected_gene': 'ENSG00000272572', 'score': 11.31}, {'connected_gene': 'NDUFB8', 'score': 10.5}, {'connected_gene': 'HIF1AN', 'score': 10.5}, {'connected_gene': 'ENSG00000255339', 'score': 10.5}, {'connected_gene': 'LZTS2', 'score': 9.8}, {'connected_gene': 'PDZD7', 'score': 9.67}, {'connected_gene': 'PKD2L1', 'score': 5.7}, {'connected_gene': 'CWF19L1', 'score': 1.52}]
chr10 GH10I100885 100885120 100888965 0.89 [{'connected_gene': 'MRPL43', 'score': 21.42}, {'connected_gene': 'LZTS2', 'score': 13.7}, {'connected_gene': 'PHBP9', 'score': 11.47}, {'connected_gene': 'CHUK', 'score': 11.15}, {'connected_gene': 'SLF2', 'score': 10.94}, {'connected_gene': 'ENSG00000272572', 'score': 9.91}, {'connected_gene': 'GC10P100864', 'score': 0.34}, {'connected_gene': 'ENSG00000222072', 'score': 0.34}]
chr10 GH10I100986 100986379 100988914 2.03 [{'connected_gene': 'MRPL43', 'score': 564.85}, {'connected_gene': 'PIR54177', 'score': 550.77}, {'connected_gene': 'PIR56323', 'score': 550.77}, {'connected_gene': 'PIR34755', 'score': 550.77}, {'connected_gene': 'PIR57005', 'score': 550.77}, {'connected_gene': 'PIR47631', 'score': 550.77}, {'connected_gene': 'GC10M100989', 'score': 550.77}, {'connected_gene': 'TWNK', 'score': 550.77}, {'connected_gene': 'PHBP9', 'score': 35.87}, {'connected_gene': 'LZTS2', 'score': 32.29}, {'connected_gene': 'ENSG00000272572', 'score': 28.58}, {'connected_gene': 'DNMBP', 'score': 19.43}, {'connected_gene': 'CHUK', 'score': 19.29}, {'connected_gene': 'PDZD7', 'score': 13.13}, {'connected_gene': 'ENSG00000236308', 'score': 9.72}]
chr10 GH10I099658 99658200 99663967 2.22 [{'connected_gene': 'SLC25A28', 'score': 562.19}, {'connected_gene': 'ENTPD7', 'score': 560.67}, {'connected_gene': 'PIR56896', 'score': 550.77}, {'connected_gene': 'CWF19L1', 'score': 13.17}, {'connected_gene': 'CUTC', 'score': 11.6}, {'connected_gene': 'CHUK', 'score': 10.8}, {'connected_gene': 'EBAG9P1', 'score': 10.65}, {'connected_gene': 'ABCC2', 'score': 7.54}]
chr10 GH10I099617 99617150 99622718 2.3 [{'connected_gene': 'SLC25A28', 'score': 561.69}, {'connected_gene': 'ENSG00000260475', 'score': 550.77}, {'connected_gene': 'CWF19L1', 'score': 31.28}, {'connected_gene': 'PHBP9', 'score': 29.58}, {'connected_gene': 'CHUK', 'score': 28.3}, {'connected_gene': 'DNMBP', 'score': 19.93}, {'connected_gene': 'EBAG9P1', 'score': 15.07}, {'connected_gene': 'ENSG00000236308', 'score': 11.97}, {'connected_gene': 'NKX2-3', 'score': 11.24}, {'connected_gene': 'CUTC', 'score': 10.21}, {'connected_gene': 'ENTPD7', 'score': 9.45}, {'connected_gene': 'ABCC2', 'score': 8.4}, {'connected_gene': 'PIR55652', 'score': 0.44}, {'connected_gene': 'GC10M099612', 'score': 0.44}]
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 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 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 GH10I101224 101224707 101231200 1.45 [{'connected_gene': 'LBX1-AS1', 'score': 558.42}, {'connected_gene': 'GC10M101227', 'score': 550.77}, {'connected_gene': 'LBX1', 'score': 550.77}, {'connected_gene': 'PHBP9', 'score': 27.38}, {'connected_gene': 'PPRC1', 'score': 26.96}, {'connected_gene': 'LDB1', 'score': 20.66}, {'connected_gene': 'CHUK', 'score': 20.06}, {'connected_gene': 'ENSG00000272572', 'score': 11.34}, {'connected_gene': 'C10orf76', 'score': 11.08}, {'connected_gene': 'SEC31B', 'score': 10.92}, {'connected_gene': 'MRPL43', 'score': 10.59}, {'connected_gene': 'HPS6', 'score': 9.88}, {'connected_gene': 'LZTS2', 'score': 9.84}, {'connected_gene': 'PDZD7', 'score': 9.72}, {'connected_gene': 'SFXN3', 'score': 4.16}]
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 GH10I100561 100561801 100563589 1.07 [{'connected_gene': 'SEC31B', 'score': 46.06}, {'connected_gene': 'PHBP9', 'score': 12.38}, {'connected_gene': 'CWF19L1', 'score': 10.94}, {'connected_gene': 'CHUK', 'score': 10.12}, {'connected_gene': 'DNMBP', 'score': 9.96}, {'connected_gene': 'NDUFB8', 'score': 0.29}, {'connected_gene': 'ENSG00000274660', 'score': 0.15}]
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 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 GH10I099429 99429051 99432206 2.05 [{'connected_gene': 'LOC101927300', 'score': 555.34}, {'connected_gene': 'GOT1', 'score': 550.77}, {'connected_gene': 'GC10P099431', 'score': 550.77}, {'connected_gene': 'CWF19L1', 'score': 19.84}, {'connected_gene': 'CHUK', 'score': 19.17}, {'connected_gene': 'HPS1', 'score': 12.68}, {'connected_gene': 'PHBP9', 'score': 12.35}, {'connected_gene': 'SLC25A28', 'score': 11.49}, {'connected_gene': 'DNMBP', 'score': 9.95}, {'connected_gene': 'PIR44588', 'score': 0.15}]
chr10 GH10I100687 100687324 100689228 1.07 [{'connected_gene': 'PHBP9', 'score': 15.05}, {'connected_gene': 'CHUK', 'score': 11.97}, {'connected_gene': 'EBAG9P1', 'score': 10.2}, {'connected_gene': 'LZTS2', 'score': 9.83}, {'connected_gene': 'GC10P100685', 'score': 0.77}, {'connected_gene': 'GC10M100694', 'score': 0.44}]
chr10 GH10I100909 100909540 100914389 2.46 [{'connected_gene': 'ENSG00000272572', 'score': 561.28}, {'connected_gene': 'SLF2', 'score': 555.34}, {'connected_gene': 'MRPL43', 'score': 22.19}, {'connected_gene': 'TWNK', 'score': 20.93}, {'connected_gene': 'CWF19L1', 'score': 19.84}, {'connected_gene': 'CHUK', 'score': 19.17}, {'connected_gene': 'POLL', 'score': 18.0}, {'connected_gene': 'PHBP9', 'score': 12.35}, {'connected_gene': 'SEMA4G', 'score': 10.74}, {'connected_gene': 'MIR608', 'score': 10.72}, {'connected_gene': 'DNMBP', 'score': 9.95}, {'connected_gene': 'ENSG00000222072', 'score': 0.77}]

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