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
ENST00000302287 [[54610017, 54610502], [54612314, 54612481], [54614639, 54614690], [54617526, 54620224]] [[54610423, 54610502], [54612314, 54612481], [54614639, 54614690], [54617526, 54617964]]
ENST00000407838 [[54610017, 54610502], [54612314, 54612481], [54614639, 54614690], [54617526, 54617863], [54636701, 54638773]] [[54610423, 54610502], [54612314, 54612481], [54614639, 54614690], [54617526, 54617863], [54636701, 54636778]]
ENST00000495904 [[54610018, 54610502], [54612314, 54612481], [54614639, 54614853]] None
ENST00000404951 [[54610108, 54610502], [54612314, 54612481], [54614639, 54614690], [54617526, 54617863], [54621559, 54621766], [54636823, 54638188]] [[54610423, 54610502], [54612314, 54612481], [54614639, 54614690], [54617526, 54617863], [54621559, 54621766], [54636823, 54636912]]
ENST00000402026 [[54610140, 54610502], [54612314, 54612481], [54614639, 54614690], [54617526, 54620220]] [[54610426, 54610502], [54612314, 54612481], [54614639, 54614690], [54617526, 54617964]]
ENST00000402613 [[54610297, 54610502], [54612314, 54612481], [54614639, 54614690], [54617526, 54617863], [54636823, 54637139]] [[54610423, 54610502], [54612314, 54612481], [54614639, 54614690], [54617526, 54617863], [54636823, 54636912]]
ENST00000498834 [[54613853, 54613909], [54614639, 54614690], [54617526, 54617863], [54636823, 54637182]] None
ENST00000466888 [[54614364, 54614432], [54614639, 54614690], [54617526, 54617863], [54636701, 54636980]] None
ENST00000469952 [[54614685, 54614690], [54617526, 54617863], [54618445, 54618612]] None
NM_001317843 [[54610017, 54610502], [54612314, 54612481], [54614639, 54614690], [54617526, 54620224]] [[54610423, 54610502], [54612314, 54612481], [54614639, 54614690], [54617526, 54617964]]
NM_001301009 [[54610017, 54610502], [54612314, 54612481], [54614639, 54614690], [54617526, 54617863], [54636823, 54638773]] [[54610423, 54610502], [54612314, 54612481], [54614639, 54614690], [54617526, 54617863], [54636823, 54636912]]
NM_182546 [[54610017, 54610502], [54612314, 54612481], [54614639, 54614690], [54617526, 54617863], [54636701, 54638773]] [[54610423, 54610502], [54612314, 54612481], [54614639, 54614690], [54617526, 54617863], [54636701, 54636778]]
NR_133927 [[54613856, 54613909], [54614639, 54614690], [54617526, 54617863], [54636823, 54638773]] None
Promoter
Chrom Start End Description
chr7 54609687 54609702 CAGE_peak_10_at_VSTM2A_5end
chr7 54609741 54609751 CAGE_peak_17_at_VSTM2A_5end
chr7 54609764 54609789 CAGE_peak_8_at_VSTM2A_5end
chr7 54609818 54609830 CAGE_peak_16_at_VSTM2A_5end
chr7 54609955 54609962 CAGE_peak_13_at_VSTM2A_5end
chr7 54609965 54609981 CAGE_peak_6_at_VSTM2A_5end
chr7 54609985 54609992 CAGE_peak_14_at_VSTM2A_5end
chr7 54609995 54610013 CAGE_peak_5_at_VSTM2A_5end
chr7 54610028 54610047 CAGE_peak_7_at_VSTM2A_5end
chr7 54610055 54610077 CAGE_peak_4_at_VSTM2A_5end
chr7 54610086 54610123 CAGE_peak_2_at_VSTM2A_5end
chr7 54610124 54610198 CAGE_peak_1_at_VSTM2A_5end
chr7 54610265 54610288 CAGE_peak_3_at_VSTM2A_5end
chr7 54610290 54610301 CAGE_peak_11_at_VSTM2A_5end
chr7 54610308 54610320 CAGE_peak_9_at_VSTM2A_5end
chr7 54610331 54610338 CAGE_peak_12_at_VSTM2A_5end
chr7 54610358 54610373 CAGE_peak_15_at_VSTM2A_5end
chr7 54614335 54614351 CAGE_peak_19_at_VSTM2A_5end
chr7 54614634 54614654 CAGE_peak_21_at_VSTM2A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I054541 54541785 54543428 1.35 [{'connected_gene': 'VSTM2A', 'score': 550.77}, {'connected_gene': 'VSTM2A-OT1', 'score': 0.39}]
chr7 GH07I054544 54544567 54547244 0.96 [{'connected_gene': 'VSTM2A', 'score': 0.77}, {'connected_gene': 'VSTM2A-OT1', 'score': 0.39}]
chr7 GH07I054291 54291950 54292872 0.43 [{'connected_gene': 'VSTM2A', 'score': 6.76}, {'connected_gene': 'GC07M054232', 'score': 0.37}, {'connected_gene': 'GC07P054271', 'score': 0.34}, {'connected_gene': 'LINC01445', 'score': 0.28}]