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
ENST00000367667 [[175913966, 175914306], [175916330, 175916375], [175956078, 175956239], [175957423, 175957548], [175958497, 175958615], [175996707, 175996824], [176012321, 176012403], [176012845, 176012954], [176015316, 176015460], [176050287, 176050423], [176054911, 176055026], [176085759, 176085817], [176104145, 176104222], [176105623, 176105683], [176118141, 176118210], [176145045, 176145143], [176153768, 176153828], [176175707, 176175827]] [[176118148, 176118210], [176145045, 176145143], [176153768, 176153828], [176175707, 176175827]]
ENST00000367669 [[175913966, 175914306], [175916330, 175916375], [175956078, 175956239], [175957423, 175957548], [175958497, 175958615], [175996707, 175996824], [176012321, 176012403], [176012845, 176012954], [176015316, 176015460], [176050287, 176050423], [176054911, 176055026], [176085759, 176085817], [176104145, 176104222], [176105623, 176105683], [176118141, 176118210], [176132004, 176132124], [176132950, 176133027], [176145045, 176145143], [176153768, 176153828], [176175707, 176176629]] [[175914288, 175914306], [175916330, 175916375], [175956078, 175956239], [175957423, 175957548], [175958497, 175958615], [175996707, 175996824], [176012321, 176012403], [176012845, 176012954], [176015316, 176015460], [176050287, 176050423], [176054911, 176055026], [176085759, 176085817], [176104145, 176104222], [176105623, 176105683], [176118141, 176118210], [176132004, 176132124], [176132950, 176133027], [176145045, 176145143], [176153768, 176153828], [176175707, 176176114]]
ENST00000308769 [[175914288, 175914306], [175916330, 175916375], [175956078, 175956239], [175957423, 175957548], [175958497, 175958615], [175996707, 175996824], [176012321, 176012403], [176012845, 176012954], [176015316, 176015460], [176050287, 176050423], [176054911, 176055026], [176085759, 176085817], [176104145, 176104222], [176118141, 176118210], [176132004, 176132124], [176132962, 176133027], [176145045, 176145143], [176153768, 176153828], [176175707, 176176114]] [[175914288, 175914306], [175916330, 175916375], [175956078, 175956239], [175957423, 175957548], [175958497, 175958615], [175996707, 175996824], [176012321, 176012403], [176012845, 176012954], [176015316, 176015460], [176050287, 176050423], [176054911, 176055026], [176085759, 176085817], [176104145, 176104222], [176118141, 176118210], [176132004, 176132124], [176132962, 176133027], [176145045, 176145143], [176153768, 176153828], [176175707, 176176114]]
ENST00000498306 [[176055001, 176055026], [176085759, 176085817], [176104145, 176104222], [176118141, 176118210], [176132004, 176132124], [176132950, 176133027], [176145045, 176145143], [176153768, 176153828], [176175484, 176175517]] [[176055001, 176055026], [176085759, 176085817], [176104145, 176104222], [176118141, 176118210], [176132004, 176132124], [176132950, 176133027], [176145045, 176145143], [176153768, 176153812]]
ENST00000491600 [[176085781, 176085817], [176104145, 176104222], [176105623, 176105683], [176118141, 176118210], [176132004, 176132124], [176132950, 176133027], [176137800, 176137884], [176145045, 176145143], [176153768, 176153828], [176175484, 176175576]] [[176137819, 176137884], [176145045, 176145143], [176153768, 176153812]]
ENST00000474194 [[176104145, 176104222], [176105623, 176105683], [176118141, 176118210], [176132004, 176132124], [176132950, 176133027], [176153768, 176153828], [176175707, 176176219]] [[176133020, 176133027], [176153768, 176153828], [176175707, 176176114]]
ENST00000461830 [[175913966, 175914306], [175916330, 175916375], [175956078, 175956239], [175957423, 175958615], [175996707, 175996824], [176012321, 176012339], [176012945, 176012954], [176015316, 176015460], [176050287, 176050392]] None
ENST00000367666 [[175913967, 175914306], [175916330, 175916375], [175956078, 175956239], [175957423, 175957548], [175958497, 175958615], [175996707, 175996824], [176012321, 176012403], [176012845, 176012954], [176015316, 176015460], [176050287, 176050423], [176054911, 176055026], [176085759, 176085817], [176104145, 176104222], [176118141, 176118210], [176132004, 176132124], [176132950, 176133027], [176145045, 176145143], [176153768, 176153800]] [[175914288, 175914306], [175916330, 175916375], [175956078, 175956239], [175957423, 175957548], [175958497, 175958615], [175996707, 175996824], [176012321, 176012403], [176012845, 176012954], [176015316, 176015460], [176050287, 176050423], [176054911, 176055026], [176085759, 176085817], [176104145, 176104222], [176118141, 176118210], [176132004, 176132124], [176132950, 176133027], [176145045, 176145143], [176153768, 176153800]]
ENST00000459744 [[176012351, 176012403], [176012845, 176012954], [176015316, 176015460], [176050287, 176050423], [176054911, 176055026], [176085759, 176085817], [176102982, 176103036], [176104145, 176104218]] [[176012351, 176012403], [176012845, 176012954], [176015316, 176015460], [176050287, 176050423], [176054911, 176055026], [176085759, 176085817], [176102982, 176103036], [176104145, 176104218]]
ENST00000482305 [[175913988, 175914306], [175916330, 175916462]] None
Promoter
Chrom Start End Description
chr1 176175986 176176027 CAGE_peak_3_at_RFWD2_5end
chr1 176176198 176176259 CAGE_peak_2_at_RFWD2_5end
chr1 176176305 176176317 CAGE_peak_4_at_RFWD2_5end
chr1 176176356 176176437 CAGE_peak_1_at_RFWD2_5end
chr1 176176604 176176625 CAGE_peak_5_at_RFWD2_5end
chr1 176176630 176176659 CAGE_peak_6_at_RFWD2_5end

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