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
ENST00000308677 [[14202499, 14204049], [14204439, 14204604], [14208172, 14208295], [14208390, 14208486], [14208575, 14208702], [14211637, 14211720], [14213627, 14213726], [14217571, 14217700], [14218159, 14218221], [14228313, 14228556]] [[14203923, 14204049], [14204439, 14204604], [14208172, 14208295], [14208390, 14208486], [14208575, 14208702], [14211637, 14211720], [14213627, 14213726], [14217571, 14217700], [14218159, 14218221], [14228313, 14228359]]
ENST00000350356 [[14202508, 14204049], [14204439, 14204604], [14208172, 14208295], [14208390, 14208486], [14208575, 14208702], [14211637, 14211720], [14213627, 14213726], [14217571, 14217700], [14218159, 14218221], [14218522, 14219202]] None
ENST00000590853 [[14202847, 14203655], [14218159, 14218221], [14228313, 14228544]] [[14203388, 14203655], [14218159, 14218221], [14228313, 14228359]]
ENST00000587372 [[14203854, 14204049], [14208172, 14208295], [14208390, 14208486], [14208575, 14208702], [14211637, 14211720], [14213627, 14213726], [14217571, 14217672]] [[14203923, 14204049], [14208172, 14208295], [14208390, 14208486], [14208575, 14208702], [14211637, 14211720], [14213627, 14213726], [14217571, 14217672]]
ENST00000589994 [[14203861, 14204049], [14204439, 14204604], [14208172, 14208295], [14208390, 14208486], [14208575, 14208702], [14211637, 14211720], [14213627, 14213726], [14217571, 14217700], [14218159, 14218221], [14224945, 14225000]] [[14203923, 14204049], [14204439, 14204604], [14208172, 14208295], [14208390, 14208486], [14208575, 14208702], [14211637, 14211720], [14213627, 14213726], [14217571, 14217700], [14218159, 14218221], [14224945, 14224967]]
ENST00000588209 [[14204461, 14204604], [14208172, 14208295], [14208390, 14208486], [14208575, 14208702], [14211637, 14212090]] None
ENST00000587533 [[14207182, 14209277]] None
ENST00000536649 [[14207782, 14208295], [14208390, 14208486], [14208575, 14208702], [14211637, 14211720], [14213627, 14213726], [14217571, 14217700], [14218159, 14218221], [14223044, 14223459]] None
ENST00000593092 [[14208059, 14208486], [14208575, 14208702], [14211637, 14211720], [14213627, 14213726], [14217571, 14217700], [14218159, 14218216]] [[14208357, 14208486], [14208575, 14208702], [14211637, 14211720], [14213627, 14213726], [14217571, 14217700], [14218159, 14218216]]
ENST00000589284 [[14213712, 14213726], [14217571, 14217700], [14218159, 14218221], [14228698, 14228896]] [[14213712, 14213726], [14217571, 14217634]]
NM_001304349 [[14202499, 14204049], [14204439, 14204604], [14208172, 14208295], [14208390, 14208486], [14208575, 14208702], [14211637, 14211720], [14213627, 14213726], [14217571, 14217700], [14218159, 14218221], [14218522, 14219202]] [[14203923, 14204049], [14204439, 14204604], [14208172, 14208295], [14208390, 14208486], [14208575, 14208702], [14211637, 14211720], [14213627, 14213726], [14217571, 14217700], [14218159, 14218221], [14218522, 14218796]]
NM_207518 [[14202499, 14204049], [14204439, 14204604], [14208172, 14208295], [14208390, 14208486], [14208575, 14208702], [14211637, 14211720], [14213627, 14213726], [14217571, 14217700], [14218159, 14218221], [14224945, 14225000]] [[14203923, 14204049], [14204439, 14204604], [14208172, 14208295], [14208390, 14208486], [14208575, 14208702], [14211637, 14211720], [14213627, 14213726], [14217571, 14217700], [14218159, 14218221], [14224945, 14224967]]
NM_002730 [[14202499, 14204049], [14204439, 14204604], [14208172, 14208295], [14208390, 14208486], [14208575, 14208702], [14211637, 14211720], [14213627, 14213726], [14217571, 14217700], [14218159, 14218221], [14228313, 14228559]] [[14203923, 14204049], [14204439, 14204604], [14208172, 14208295], [14208390, 14208486], [14208575, 14208702], [14211637, 14211720], [14213627, 14213726], [14217571, 14217700], [14218159, 14218221], [14228313, 14228359]]
Promoter
Chrom Start End Description
chr19 14223322 14223363 CAGE_peak_3_at_PRKACA_5end
chr19 14223369 14223385 CAGE_peak_5_at_PRKACA_5end
chr19 14223454 14223463 CAGE_peak_9_at_PRKACA_5end
chr19 14223852 14223882 CAGE_peak_7_at_PRKACA_5end
chr19 14224969 14225011 CAGE_peak_4_at_PRKACA_5end
chr19 14228521 14228536 CAGE_peak_2_at_PRKACA_5end
chr19 14228541 14228582 CAGE_peak_1_at_PRKACA_5end

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