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
ENST00000355907 [[31532372, 31532580], [31534378, 31534524], [31535850, 31536000], [31538366, 31538796], [31541055, 31541118], [31541387, 31541509], [31545752, 31545819], [31548596, 31548794], [31551399, 31551539], [31552879, 31555154]] [[31545795, 31545819], [31548596, 31548794], [31551399, 31551539], [31552879, 31553009]]
ENST00000325366 [[31532372, 31532580], [31534378, 31534524], [31535850, 31536000], [31538366, 31538796], [31541055, 31541118], [31541387, 31541509], [31545752, 31545819], [31551399, 31551539], [31552879, 31555165]] [[31532499, 31532580], [31534378, 31534524], [31535850, 31536000], [31538366, 31538796], [31541055, 31541118], [31541387, 31541509], [31545752, 31545819], [31551399, 31551539], [31552879, 31553009]]
ENST00000510659 [[31532393, 31532580], [31534378, 31534524], [31535850, 31536000], [31538590, 31538796], [31541055, 31541118], [31541387, 31541509], [31545752, 31545819], [31551399, 31551539], [31552879, 31554915]] [[31532499, 31532580], [31534378, 31534524], [31535850, 31536000], [31538590, 31538624]]
ENST00000513967 [[31532395, 31532580], [31534378, 31534524], [31535850, 31536000], [31538590, 31538796], [31541387, 31541509], [31545752, 31545819], [31551399, 31551501]] [[31532499, 31532580], [31534378, 31534524], [31535850, 31536000], [31538590, 31538624]]
ENST00000515409 [[31532401, 31532580], [31534378, 31534704]] None
ENST00000507818 [[31532401, 31532580], [31534378, 31534524], [31535065, 31535158], [31535850, 31536000]] [[31532499, 31532580], [31534378, 31534524], [31535065, 31535158], [31535850, 31536000]]
ENST00000517780 [[31532401, 31532580], [31534378, 31534432], [31535850, 31536000], [31538366, 31538793]] None
ENST00000511208 [[31532405, 31532580], [31534378, 31534432], [31535850, 31536000], [31538587, 31538791]] [[31532499, 31532580], [31534378, 31534432], [31535850, 31535865]]
ENST00000504464 [[31532422, 31532580], [31534378, 31534524], [31535850, 31536000], [31538590, 31538796], [31541055, 31541118], [31541387, 31541509], [31545752, 31545821]] [[31532499, 31532580], [31534378, 31534524], [31535850, 31536000], [31538590, 31538624]]
ENST00000510530 [[31538279, 31538796], [31541055, 31541118], [31541387, 31541509], [31545752, 31545821]] None
ENST00000504866 [[31545777, 31545819], [31548596, 31548794], [31551399, 31551539], [31552879, 31554946]] None
NR_134298 [[31532372, 31532580], [31534378, 31534524], [31535850, 31536000], [31538590, 31538796], [31541055, 31541118], [31541387, 31541509], [31545752, 31545819], [31551399, 31551539], [31552879, 31555165]] None
NM_018356 [[31532372, 31532580], [31534378, 31534524], [31535850, 31536000], [31538366, 31538796], [31541055, 31541118], [31541387, 31541509], [31545752, 31545819], [31551399, 31551539], [31552879, 31555165]] [[31532499, 31532580], [31534378, 31534524], [31535850, 31536000], [31538366, 31538796], [31541055, 31541118], [31541387, 31541509], [31545752, 31545819], [31551399, 31551539], [31552879, 31553009]]
Promoter
Chrom Start End Description
chr5 31532384 31532479 CAGE_peak_1_at_C5orf22_5end
chr5 31538265 31538276 CAGE_peak_12_at_C5orf22_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I031530 31530283 31534085 2.06 [{'connected_gene': 'DROSHA', 'score': 586.3}, {'connected_gene': 'C5orf22', 'score': 562.72}, {'connected_gene': 'MTMR12', 'score': 12.09}, {'connected_gene': 'ENSG00000206682', 'score': 0.31}]