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
ENST00000422698 [[104756444, 104756829], [104757419, 104757539], [104757922, 104758032], [104761100, 104761250], [104761896, 104762131], [104763057, 104763230], [104767943, 104768195], [104769134, 104769160]] [[104757440, 104757539], [104757922, 104758032], [104761100, 104761250], [104761896, 104762131], [104763057, 104763230], [104767943, 104768195], [104769134, 104769141]]
ENST00000441710 [[104757416, 104757539], [104761100, 104761250], [104761924, 104762131], [104763057, 104763230], [104767943, 104768195], [104769134, 104769397]] [[104757440, 104757539], [104761100, 104761250], [104761924, 104762131], [104763057, 104763230], [104767943, 104768195], [104769134, 104769141]]
ENST00000447913 [[104757416, 104757539], [104757922, 104758032], [104761100, 104761250], [104763057, 104763230], [104769134, 104769397]] [[104757939, 104758032], [104761100, 104761250], [104763057, 104763230], [104769134, 104769141]]
ENST00000417998 [[104757416, 104757539], [104757922, 104758032], [104761100, 104761250], [104761896, 104762131], [104763057, 104763230], [104763623, 104763718], [104767943, 104768195], [104769134, 104769397]] [[104763077, 104763230], [104763623, 104763718], [104767943, 104768195], [104769134, 104769141]]
ENST00000458137 [[104757416, 104757539], [104757922, 104758032], [104761100, 104761250], [104763057, 104763230], [104763623, 104763718], [104767943, 104768195], [104769134, 104769397]] [[104763077, 104763230], [104763623, 104763718], [104767943, 104768195], [104769134, 104769141]]
ENST00000433738 [[104757416, 104757539], [104761100, 104761250], [104763057, 104763230], [104769134, 104769397]] [[104757440, 104757539], [104761100, 104761250], [104763057, 104763230], [104769134, 104769141]]
ENST00000446862 [[104757416, 104757539], [104761100, 104761250], [104761896, 104762131], [104763057, 104763230], [104767943, 104768195], [104769134, 104769397]] [[104757522, 104757539], [104761100, 104761250], [104761896, 104762131], [104763057, 104763230], [104767943, 104768195], [104769134, 104769141]]
ENST00000494737 [[104757416, 104757539], [104761100, 104761250], [104763057, 104763230], [104767943, 104768195], [104769134, 104769397]] [[104757440, 104757539], [104761100, 104761250], [104763057, 104763230], [104767943, 104768195], [104769134, 104769141]]
ENST00000375726 [[104757416, 104757539], [104757922, 104758032], [104761100, 104761250], [104761896, 104762131], [104763057, 104763230], [104767943, 104768195], [104769134, 104769397]] [[104757440, 104757539], [104757922, 104758032], [104761100, 104761250], [104761896, 104762131], [104763057, 104763230], [104767943, 104768195], [104769134, 104769141]]
ENST00000448103 [[104757416, 104757539], [104757922, 104758032], [104761100, 104761250], [104763057, 104763230], [104767943, 104768195], [104769134, 104769397]] [[104757939, 104758032], [104761100, 104761250], [104763057, 104763230], [104767943, 104768195], [104769134, 104769141]]
ENST00000508062 [[104757440, 104757539], [104757922, 104758032], [104761100, 104761250], [104761896, 104762131], [104763057, 104763230], [104769134, 104769141]] [[104757440, 104757539], [104757922, 104758032], [104761100, 104761250], [104761896, 104762131], [104763057, 104763230], [104769134, 104769141]]
NR_034070 [[104756444, 104756829], [104757419, 104757539], [104757922, 104758032], [104761100, 104761250], [104761896, 104762131], [104763057, 104763230], [104763623, 104763718], [104767943, 104768195], [104769134, 104769397]] None
NR_034071 [[104756444, 104756829], [104757419, 104757539], [104757922, 104758032], [104761100, 104761250], [104763057, 104763230], [104763623, 104763718], [104767943, 104768195], [104769134, 104769397]] None
NR_034061 [[104756444, 104756829], [104757419, 104757539], [104757922, 104758032], [104761100, 104761250], [104761896, 104762131], [104763057, 104763230], [104767943, 104768195], [104769134, 104769397]] None
NR_034063 [[104756444, 104756829], [104757419, 104757539], [104761100, 104761250], [104761896, 104762131], [104763057, 104763230], [104767943, 104768195], [104769134, 104769397]] None
NR_034064 [[104756444, 104756829], [104757419, 104757539], [104761100, 104761250], [104761924, 104762131], [104763057, 104763230], [104767943, 104768195], [104769134, 104769397]] None
NR_034065 [[104756444, 104756829], [104757419, 104757539], [104757922, 104758032], [104761100, 104761250], [104763057, 104763230], [104767943, 104768195], [104769134, 104769397]] None
NR_034067 [[104756444, 104756829], [104757419, 104757539], [104761100, 104761250], [104763057, 104763230], [104767943, 104768195], [104769134, 104769397]] None
NR_034066 [[104756444, 104756829], [104757419, 104757539], [104757922, 104758032], [104761100, 104761250], [104763057, 104763230], [104769134, 104769397]] None
NR_034068 [[104756444, 104756829], [104757419, 104757539], [104761100, 104761250], [104763057, 104763230], [104769134, 104769397]] None
Promoter
Chrom Start End Description
chr11 104769157 104769191 CAGE_peak_1_at_CASP12_5end
chr11 104769199 104769211 CAGE_peak_2_at_CASP12_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I104875 104875592 104877797 0.89 [{'connected_gene': 'CASP4', 'score': 11.17}, {'connected_gene': 'LOC643733', 'score': 7.16}, {'connected_gene': 'CASP5', 'score': 4.66}, {'connected_gene': 'CARD17', 'score': 2.9}, {'connected_gene': 'CARD16', 'score': 2.56}, {'connected_gene': 'ENSG00000254569', 'score': 0.77}, {'connected_gene': 'CASP12', 'score': 0.34}]
chr11 GH11I104965 104965298 104970176 2.08 [{'connected_gene': 'CASP4', 'score': 575.62}, {'connected_gene': 'LOC643733', 'score': 16.48}, {'connected_gene': 'CASP5', 'score': 11.81}, {'connected_gene': 'CASP12', 'score': 11.38}, {'connected_gene': 'CARD17', 'score': 8.49}, {'connected_gene': 'CARD16', 'score': 7.28}]
chr11 GH11I104163 104163000 104165000 2.07 [{'connected_gene': 'PDGFD', 'score': 555.18}, {'connected_gene': 'CASP12', 'score': 14.56}, {'connected_gene': 'DDI1', 'score': 0.13}]
chr11 GH11I104947 104947034 104947183 0.54 [{'connected_gene': 'LOC643733', 'score': 11.11}, {'connected_gene': 'CASP12', 'score': 11.04}, {'connected_gene': 'CASP4', 'score': 0.34}]
chr11 GH11I104914 104914774 104919132 1.08 [{'connected_gene': 'LOC643733', 'score': 7.77}, {'connected_gene': 'CASP12', 'score': 5.26}, {'connected_gene': 'CASP4', 'score': 5.24}]
chr11 GH11I104890 104890996 104891903 0.31 [{'connected_gene': 'LOC643733', 'score': 8.63}, {'connected_gene': 'CASP12', 'score': 0.44}, {'connected_gene': 'ENSG00000254569', 'score': 0.37}]
chr11 GH11I104906 104906978 104908586 0.31 [{'connected_gene': 'LOC643733', 'score': 8.39}, {'connected_gene': 'CASP12', 'score': 0.44}]
chr11 GH11I104694 104694122 104695343 1.03 [{'connected_gene': 'CARD17', 'score': 16.29}, {'connected_gene': 'CASP12', 'score': 11.11}, {'connected_gene': 'LOC643733', 'score': 11.1}, {'connected_gene': 'CASP4', 'score': 3.77}, {'connected_gene': 'CARD16', 'score': 3.21}, {'connected_gene': 'CASP5', 'score': 2.39}, {'connected_gene': 'ENSG00000270449', 'score': 0.39}, {'connected_gene': 'LOC105369466', 'score': 0.34}, {'connected_gene': 'PIR54951', 'score': 0.23}]
chr11 GH11I104934 104934486 104935299 0.31 [{'connected_gene': 'CASP12', 'score': 11.84}, {'connected_gene': 'LOC643733', 'score': 0.37}, {'connected_gene': 'CASP4', 'score': 0.29}]
chr11 GH11I104899 104899201 104899400 0.2 [{'connected_gene': 'CASP12', 'score': 550.77}, {'connected_gene': 'LOC643733', 'score': 0.37}]
chr11 GH11I104897 104897743 104899063 0.63 [{'connected_gene': 'CASP12', 'score': 567.22}, {'connected_gene': 'LOC643733', 'score': 8.51}, {'connected_gene': 'ENSG00000254569', 'score': 0.31}]
chr11 GH11I104858 104858285 104860081 0.58 [{'connected_gene': 'CASP12', 'score': 7.69}, {'connected_gene': 'ENSG00000254569', 'score': 0.39}, {'connected_gene': 'PIR51559', 'score': 0.26}]
chr11 GH11I104892 104892638 104893283 0.2 [{'connected_gene': 'CASP12', 'score': 0.44}, {'connected_gene': 'ENSG00000254569', 'score': 0.37}]
chr11 GH11I104895 104895689 104896183 0.2 [{'connected_gene': 'CASP12', 'score': 0.77}, {'connected_gene': 'ENSG00000254569', 'score': 0.34}]

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