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
ENST00000393459 [[102790990, 102791291], [102792070, 102792239], [102794448, 102794612], [102795253, 102795424], [102795759, 102795858], [102796242, 102796318], [102796479, 102796565], [102796832, 102796960], [102797138, 102797188], [102798399, 102798449], [102798931, 102798979], [102799245, 102800998]] [[102794451, 102794612], [102795253, 102795424], [102795759, 102795858], [102796242, 102796318], [102796479, 102796565], [102796832, 102796960], [102797138, 102797188], [102798399, 102798449], [102798931, 102798979], [102799245, 102799342]]
ENST00000224807 [[102790995, 102791291], [102792070, 102792239], [102794448, 102794612], [102795253, 102795424], [102795759, 102795858], [102796242, 102796318], [102796479, 102796565], [102796832, 102796960], [102797138, 102797188], [102798399, 102798449], [102798931, 102798979], [102799245, 102800997]] [[102792230, 102792239], [102794448, 102794612], [102795253, 102795424], [102795759, 102795858], [102796242, 102796318], [102796479, 102796565], [102796832, 102796960], [102797138, 102797188], [102798399, 102798449], [102798931, 102798979], [102799245, 102799342]]
ENST00000489434 [[102792236, 102792239], [102794448, 102794612], [102795253, 102795424], [102795759, 102795858], [102796242, 102796318], [102796423, 102796565], [102796832, 102796924]] [[102794451, 102794612], [102795253, 102795424], [102795759, 102795858], [102796242, 102796318], [102796423, 102796450]]
ENST00000465383 [[102795818, 102795858], [102796242, 102796318], [102796479, 102796565], [102796832, 102796960], [102797138, 102797357]] None
ENST00000487721 [[102796484, 102796565], [102796832, 102796960], [102797138, 102797188], [102797264, 102797766]] None
ENST00000466982 [[102797148, 102798449], [102798931, 102800386]] None
ENST00000470252 [[102797708, 102798449], [102798931, 102798979], [102799245, 102800997]] None
NM_030971 [[102790995, 102791291], [102792070, 102792239], [102794448, 102794612], [102795253, 102795424], [102795759, 102795858], [102796242, 102796318], [102796479, 102796565], [102796832, 102796960], [102797138, 102797188], [102798399, 102798449], [102798931, 102798979], [102799245, 102800998]] [[102792230, 102792239], [102794448, 102794612], [102795253, 102795424], [102795759, 102795858], [102796242, 102796318], [102796479, 102796565], [102796832, 102796960], [102797138, 102797188], [102798399, 102798449], [102798931, 102798979], [102799245, 102799342]]
Promoter
Chrom Start End Description
chr10 102790980 102791072 CAGE_peak_2_at_SFXN3_5end
chr10 102791079 102791086 CAGE_peak_10_at_SFXN3_5end
chr10 102791231 102791249 CAGE_peak_5_at_SFXN3_5end
chr10 102791251 102791284 CAGE_peak_6_at_SFXN3_5end
chr10 102791815 102791860 CAGE_peak_4_at_SFXN3_5end
chr10 102792137 102792186 CAGE_peak_1_at_SFXN3_5end
chr10 102792188 102792219 CAGE_peak_3_at_SFXN3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I101051 101051769 101052993 0.59 [{'connected_gene': 'MRPL43', 'score': 15.45}, {'connected_gene': 'ENSG00000236308', 'score': 10.2}, {'connected_gene': 'ENSG00000273162', 'score': 0.44}, {'connected_gene': 'SFXN3', 'score': 0.34}]
chr10 GH10I101122 101122210 101123944 0.49 [{'connected_gene': 'SFXN3', 'score': 4.36}, {'connected_gene': 'TLX1', 'score': 0.44}, {'connected_gene': 'GC10M101114', 'score': 0.44}, {'connected_gene': 'TLX1NB', 'score': 0.37}]
chr10 GH10I101213 101213578 101214400 1.09 [{'connected_gene': 'SFXN3', 'score': 4.18}, {'connected_gene': 'GC10M101227', 'score': 0.39}, {'connected_gene': 'SMARCE1P7', 'score': 0.29}]
chr10 GH10I101049 101049886 101050800 1.04 [{'connected_gene': 'SFXN3', 'score': 4.32}, {'connected_gene': 'ENSG00000273162', 'score': 0.39}]
chr10 GH10I101041 101040204 101040353 0.2 [{'connected_gene': 'SFXN3', 'score': 0.44}, {'connected_gene': 'ENSG00000273162', 'score': 0.34}]
chr10 GH10I101040 101040856 101044413 1.43 [{'connected_gene': 'SFXN3', 'score': 0.39}, {'connected_gene': 'ENSG00000273162', 'score': 0.37}]
chr10 GH10I101059 101059483 101068201 2.31 [{'connected_gene': 'KAZALD1', 'score': 550.77}, {'connected_gene': 'BTRC', 'score': 13.22}, {'connected_gene': 'ENSG00000272572', 'score': 12.16}, {'connected_gene': 'KCNIP2-AS1', 'score': 9.9}, {'connected_gene': 'SFXN3', 'score': 7.49}, {'connected_gene': 'MRPL43', 'score': 4.46}, {'connected_gene': 'ENSG00000273162', 'score': 0.77}, {'connected_gene': 'GC10M101091', 'score': 0.31}]
chr10 GH10I101030 101030066 101036428 2.47 [{'connected_gene': 'PDZD7', 'score': 580.21}, {'connected_gene': 'SFXN3', 'score': 557.7}, {'connected_gene': 'MRPL43', 'score': 34.14}, {'connected_gene': 'TWNK', 'score': 30.97}, {'connected_gene': 'KAZALD1', 'score': 13.04}, {'connected_gene': 'TLX1', 'score': 11.6}, {'connected_gene': 'TLX1NB', 'score': 11.59}, {'connected_gene': 'SEMA4G', 'score': 10.89}, {'connected_gene': 'ENSG00000236662', 'score': 10.68}, {'connected_gene': 'MIR608', 'score': 10.68}, {'connected_gene': 'CWF19L1', 'score': 10.66}, {'connected_gene': 'POLL', 'score': 9.97}, {'connected_gene': 'PHBP9', 'score': 9.88}, {'connected_gene': 'ENSG00000273162', 'score': 0.31}]
chr10 GH10I101028 101028737 101029813 0.82 [{'connected_gene': 'PDZD7', 'score': 550.77}, {'connected_gene': 'SFXN3', 'score': 550.77}, {'connected_gene': 'ENSG00000236662', 'score': 10.7}, {'connected_gene': 'MRPL43', 'score': 10.7}, {'connected_gene': 'TWNK', 'score': 10.7}, {'connected_gene': 'SEMA4G', 'score': 10.31}, {'connected_gene': 'LZTS2', 'score': 0.29}]
chr10 GH10I100880 100880832 100884710 1.22 [{'connected_gene': 'SLF2', 'score': 10.99}, {'connected_gene': 'PAX2', 'score': 10.08}, {'connected_gene': 'ENSG00000272572', 'score': 7.52}, {'connected_gene': 'SFXN3', 'score': 4.63}, {'connected_gene': 'GC10P100864', 'score': 0.37}, {'connected_gene': 'ENSG00000222072', 'score': 0.34}]
chr10 GH10I101219 101219065 101219843 0.83 [{'connected_gene': 'LBX1-AS1', 'score': 7.04}, {'connected_gene': 'SFXN3', 'score': 4.0}, {'connected_gene': 'GC10M101227', 'score': 0.44}, {'connected_gene': 'SMARCE1P7', 'score': 0.28}]
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 GH10I101012 101012301 101013896 1.3 [{'connected_gene': 'ENSG00000272572', 'score': 5.18}, {'connected_gene': 'SFXN3', 'score': 4.53}, {'connected_gene': 'PDZD7', 'score': 0.37}, {'connected_gene': 'LZTS2', 'score': 0.37}]
chr10 GH10I101113 101113151 101113651 0.83 [{'connected_gene': 'GC10M101114', 'score': 550.77}, {'connected_gene': 'SFXN3', 'score': 4.98}, {'connected_gene': 'GC10M101091', 'score': 0.34}, {'connected_gene': 'TLX1NB', 'score': 0.31}]
chr10 GH10I101054 101054331 101055809 0.52 [{'connected_gene': 'ENSG00000273162', 'score': 0.44}, {'connected_gene': 'SFXN3', 'score': 0.34}]

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