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
ENST00000263274 [[48618701, 48618989], [48619129, 48619222], [48620894, 48621038], [48622393, 48622447], [48624426, 48624579], [48626190, 48626273], [48626430, 48626575], [48630533, 48630605], [48631166, 48631277], [48634332, 48634428], [48636238, 48636354], [48637237, 48637323], [48638936, 48639036], [48639290, 48639382], [48640264, 48640341], [48640778, 48640945], [48643227, 48643400], [48646799, 48646856], [48647139, 48647220], [48653019, 48653098], [48653344, 48653467], [48654488, 48654596], [48657128, 48657224], [48660270, 48660397], [48664628, 48664764], [48665518, 48665608], [48668806, 48668880], [48673497, 48673860]] [[48618905, 48618989], [48619129, 48619222], [48620894, 48621038], [48622393, 48622447], [48624426, 48624579], [48626190, 48626273], [48626430, 48626575], [48630533, 48630605], [48631166, 48631277], [48634332, 48634428], [48636238, 48636354], [48637237, 48637323], [48638936, 48639036], [48639290, 48639382], [48640264, 48640341], [48640778, 48640945], [48643227, 48643400], [48646799, 48646856], [48647139, 48647220], [48653019, 48653098], [48653344, 48653467], [48654488, 48654596], [48657128, 48657224], [48660270, 48660397], [48664628, 48664764], [48665518, 48665608], [48668806, 48668823]]
ENST00000536218 [[48618706, 48618989], [48619129, 48619222], [48620894, 48621038], [48622393, 48622447], [48624426, 48624579], [48626190, 48626273], [48626430, 48626575], [48630533, 48630605], [48631166, 48631277], [48634332, 48634428], [48636238, 48636354], [48637237, 48637323], [48638936, 48639036], [48639290, 48639382], [48640264, 48640341], [48640778, 48640945], [48643227, 48643400], [48646799, 48646856], [48647139, 48647220], [48653019, 48653098], [48653344, 48653467], [48660270, 48660397], [48664628, 48664764], [48665518, 48665608], [48668806, 48668880], [48673497, 48673571]] [[48618905, 48618989], [48619129, 48619222], [48620894, 48621038], [48622393, 48622447], [48624426, 48624579], [48626190, 48626273], [48626430, 48626575], [48630533, 48630605], [48631166, 48631277], [48634332, 48634428], [48636238, 48636354], [48637237, 48637323], [48638936, 48639036], [48639290, 48639382], [48640264, 48640341], [48640778, 48640945], [48643227, 48643400], [48646799, 48646856], [48647139, 48647220], [48653019, 48653098], [48653344, 48653467], [48660270, 48660397], [48664628, 48664764], [48665518, 48665608], [48668806, 48668823]]
ENST00000594759 [[48618706, 48618989], [48619129, 48619222], [48620894, 48621038], [48622393, 48622447], [48623423, 48624579], [48626190, 48626273], [48626430, 48626575], [48630533, 48630605], [48631166, 48631277], [48634332, 48634428], [48636238, 48636354], [48637237, 48637323], [48638936, 48639036], [48639290, 48639382], [48640264, 48640341], [48640778, 48640945], [48643227, 48643400], [48646799, 48646856], [48647139, 48647220], [48653019, 48653098], [48653344, 48653467], [48654488, 48654593], [48657128, 48657224], [48660270, 48660397], [48664628, 48664764], [48665518, 48665608], [48668806, 48668880], [48673497, 48673583]] [[48624405, 48624579], [48626190, 48626273], [48626430, 48626575], [48630533, 48630605], [48631166, 48631277], [48634332, 48634428], [48636238, 48636354], [48637237, 48637323], [48638936, 48639036], [48639290, 48639382], [48640264, 48640341], [48640778, 48640945], [48643227, 48643400], [48646799, 48646856], [48647139, 48647220], [48653019, 48653098], [48653344, 48653467], [48654488, 48654593], [48657128, 48657224], [48660270, 48660397], [48664628, 48664764], [48665518, 48665608], [48668806, 48668823]]
ENST00000427526 [[48618706, 48618989], [48619129, 48619222], [48620894, 48621038], [48622393, 48622447], [48624426, 48624579], [48626190, 48626273], [48626430, 48626575], [48630533, 48630605], [48631166, 48631277], [48634332, 48634428], [48636238, 48636354], [48637237, 48637323], [48638936, 48639036], [48639290, 48639382], [48640264, 48640341], [48640778, 48640945], [48643227, 48643400], [48646799, 48646856], [48647139, 48647220], [48653019, 48653098], [48653344, 48653467], [48654488, 48654593], [48657128, 48657224], [48660270, 48660397], [48664628, 48664764], [48668806, 48668880], [48673497, 48673601]] [[48618905, 48618989], [48619129, 48619222], [48620894, 48621038], [48622393, 48622447], [48624426, 48624579], [48626190, 48626273], [48626430, 48626575], [48630533, 48630605], [48631166, 48631277], [48634332, 48634428], [48636238, 48636354], [48637237, 48637323], [48638936, 48639036], [48639290, 48639382], [48640264, 48640341], [48640778, 48640945], [48643227, 48643400], [48646799, 48646856], [48647139, 48647220], [48653019, 48653098], [48653344, 48653467], [48654488, 48654593], [48657128, 48657224], [48660270, 48660397], [48664628, 48664764], [48668806, 48668823]]
ENST00000594067 [[48618724, 48618989], [48619129, 48619222], [48620894, 48621038], [48622393, 48622447], [48624426, 48624579], [48626190, 48626273], [48626430, 48626575], [48630533, 48630605], [48631166, 48631277], [48634332, 48634428], [48636238, 48636354], [48637237, 48637323], [48638936, 48639036], [48639290, 48639382], [48640264, 48640341], [48640778, 48640945], [48643227, 48643400], [48646799, 48646856], [48647139, 48647220], [48653019, 48653098], [48653344, 48653467], [48654488, 48654642], [48657128, 48657304]] None
ENST00000601091 [[48618780, 48618989], [48619129, 48619222], [48620894, 48621038], [48622393, 48622447], [48623423, 48624579], [48626190, 48626273], [48626430, 48626575], [48630533, 48630605], [48631166, 48631277], [48634332, 48634428], [48636238, 48636354], [48637237, 48637323], [48638936, 48639036], [48639290, 48639382], [48640264, 48640341], [48640778, 48640945], [48643227, 48643400], [48646799, 48646856], [48647139, 48647220], [48653019, 48653098], [48653344, 48653467], [48654488, 48654596], [48657128, 48657224], [48660270, 48660397], [48664628, 48664764], [48665518, 48665608], [48668806, 48668880], [48673497, 48673509]] [[48624405, 48624579], [48626190, 48626273], [48626430, 48626575], [48630533, 48630605], [48631166, 48631277], [48634332, 48634428], [48636238, 48636354], [48637237, 48637323], [48638936, 48639036], [48639290, 48639382], [48640264, 48640341], [48640778, 48640945], [48643227, 48643400], [48646799, 48646856], [48647139, 48647220], [48653019, 48653098], [48653344, 48653467], [48654488, 48654596], [48657128, 48657224], [48660270, 48660397], [48664628, 48664764], [48665518, 48665608], [48668806, 48668823]]
ENST00000596672 [[48624453, 48624579], [48626190, 48626273], [48626430, 48626575], [48630533, 48630605], [48631166, 48631277], [48634332, 48634428], [48636238, 48636354], [48638936, 48638979]] [[48636287, 48636354], [48638936, 48638979]]
ENST00000597146 [[48618702, 48618989], [48619129, 48619431]] None
ENST00000599322 [[48618705, 48618989], [48619129, 48619222], [48620894, 48621137]] None
ENST00000596332 [[48624528, 48624579], [48626190, 48626273], [48626430, 48626880]] None
ENST00000596457 [[48630533, 48630605], [48631166, 48631277], [48634332, 48634428], [48636238, 48636751]] None
ENST00000597901 [[48639010, 48639036], [48639290, 48639382], [48640264, 48640341], [48640778, 48641148]] None
ENST00000542460 [[48639300, 48639382], [48640264, 48640341], [48640778, 48641016], [48643227, 48643400], [48646799, 48646856], [48647139, 48647220], [48653019, 48653098], [48653344, 48653467], [48654488, 48654596], [48660270, 48660397], [48664628, 48664764], [48665518, 48665608], [48668806, 48668880], [48673497, 48673579]] [[48640322, 48640341], [48640778, 48641016], [48643227, 48643400], [48646799, 48646856], [48647139, 48647220], [48653019, 48653098], [48653344, 48653467], [48654488, 48654596], [48660270, 48660397], [48664628, 48664764], [48665518, 48665608], [48668806, 48668823]]
ENST00000595758 [[48653059, 48653098], [48653344, 48653467], [48654488, 48654596], [48657128, 48657464]] None
ENST00000596104 [[48653066, 48653098], [48653344, 48653467], [48654488, 48654596], [48657128, 48657224], [48657649, 48657821]] None
ENST00000599165 [[48653082, 48653098], [48653344, 48653467], [48654488, 48654596], [48664694, 48664764], [48665518, 48665608], [48668806, 48668880], [48673497, 48673586]] None
ENST00000596549 [[48653388, 48653467], [48660270, 48660397], [48664628, 48664764], [48665518, 48665608], [48668806, 48668880], [48673497, 48673571]] [[48653388, 48653467], [48660270, 48660397], [48664628, 48664764], [48665518, 48665608], [48668806, 48668823]]
ENST00000593425 [[48657157, 48657224], [48660270, 48660397], [48664628, 48664764], [48665518, 48665608], [48668806, 48668880], [48672865, 48672946]] [[48657157, 48657224], [48660270, 48660397], [48664628, 48664764], [48665518, 48665608], [48668806, 48668823]]
ENST00000600055 [[48664430, 48664764], [48665518, 48665608], [48668806, 48668880], [48673497, 48673601]] None
ENST00000598938 [[48665540, 48665608], [48668806, 48668880], [48673230, 48673465]] [[48665540, 48665608], [48668806, 48668823]]
NR_135497 [[48618701, 48618989], [48619129, 48619222], [48620894, 48621038], [48622393, 48622447], [48623423, 48624579], [48626190, 48626273], [48626430, 48626575], [48630533, 48630605], [48631166, 48631277], [48634332, 48634428], [48636238, 48636354], [48637237, 48637323], [48638936, 48639036], [48639290, 48639382], [48640264, 48640341], [48640778, 48640945], [48643227, 48643400], [48646799, 48646856], [48647139, 48647220], [48653019, 48653098], [48653344, 48653467], [48654488, 48654596], [48657128, 48657224], [48660270, 48660397], [48664628, 48664764], [48665518, 48665608], [48668806, 48668880], [48673497, 48673860]] None
NM_000234 [[48618701, 48618989], [48619129, 48619222], [48620894, 48621038], [48622393, 48622447], [48624426, 48624579], [48626190, 48626273], [48626430, 48626575], [48630533, 48630605], [48631166, 48631277], [48634332, 48634428], [48636238, 48636354], [48637237, 48637323], [48638936, 48639036], [48639290, 48639382], [48640264, 48640341], [48640778, 48640945], [48643227, 48643400], [48646799, 48646856], [48647139, 48647220], [48653019, 48653098], [48653344, 48653467], [48654488, 48654596], [48657128, 48657224], [48660270, 48660397], [48664628, 48664764], [48665518, 48665608], [48668806, 48668880], [48673497, 48673860]] [[48618905, 48618989], [48619129, 48619222], [48620894, 48621038], [48622393, 48622447], [48624426, 48624579], [48626190, 48626273], [48626430, 48626575], [48630533, 48630605], [48631166, 48631277], [48634332, 48634428], [48636238, 48636354], [48637237, 48637323], [48638936, 48639036], [48639290, 48639382], [48640264, 48640341], [48640778, 48640945], [48643227, 48643400], [48646799, 48646856], [48647139, 48647220], [48653019, 48653098], [48653344, 48653467], [48654488, 48654596], [48657128, 48657224], [48660270, 48660397], [48664628, 48664764], [48665518, 48665608], [48668806, 48668823]]
NR_110296 [[48618701, 48618989], [48619129, 48619222], [48620894, 48621038], [48622393, 48622447], [48623423, 48624579], [48626190, 48626273], [48626430, 48626575], [48630533, 48630605], [48631166, 48631277], [48634332, 48634428], [48636238, 48636354], [48637237, 48637323], [48638936, 48639036], [48639290, 48639382], [48640264, 48640341], [48640778, 48640945], [48643227, 48643400], [48646799, 48646856], [48647139, 48647220], [48653019, 48653098], [48653344, 48653467], [48654488, 48654593], [48657128, 48657224], [48660270, 48660397], [48664628, 48664764], [48665518, 48665608], [48668806, 48668880], [48673497, 48673860]] None
NM_001320970 [[48618701, 48618989], [48619129, 48619222], [48620894, 48621038], [48622393, 48622447], [48624426, 48624579], [48626190, 48626273], [48626430, 48626575], [48630533, 48630605], [48631166, 48631277], [48634332, 48634428], [48636238, 48636354], [48637237, 48637323], [48638936, 48639036], [48639290, 48639382], [48640264, 48640341], [48640778, 48640945], [48643227, 48643400], [48646799, 48646856], [48647139, 48647220], [48653019, 48653098], [48653344, 48653467], [48654488, 48654593], [48657128, 48657224], [48660270, 48660397], [48664628, 48664764], [48665518, 48665608], [48668806, 48668880], [48673497, 48673860]] [[48618905, 48618989], [48619129, 48619222], [48620894, 48621038], [48622393, 48622447], [48624426, 48624579], [48626190, 48626273], [48626430, 48626575], [48630533, 48630605], [48631166, 48631277], [48634332, 48634428], [48636238, 48636354], [48637237, 48637323], [48638936, 48639036], [48639290, 48639382], [48640264, 48640341], [48640778, 48640945], [48643227, 48643400], [48646799, 48646856], [48647139, 48647220], [48653019, 48653098], [48653344, 48653467], [48654488, 48654593], [48657128, 48657224], [48660270, 48660397], [48664628, 48664764], [48665518, 48665608], [48668806, 48668823]]
NM_001289064 [[48618701, 48618989], [48619129, 48619222], [48620894, 48621038], [48622393, 48622447], [48624426, 48624579], [48626190, 48626273], [48626430, 48626575], [48630533, 48630605], [48631166, 48631277], [48634332, 48634428], [48636238, 48636354], [48637237, 48637323], [48638936, 48639036], [48639290, 48639382], [48640264, 48640341], [48640778, 48640945], [48643227, 48643400], [48646799, 48646856], [48647139, 48647220], [48653019, 48653098], [48653344, 48653467], [48660270, 48660397], [48664628, 48664764], [48665518, 48665608], [48668806, 48668880], [48673497, 48673860]] [[48618905, 48618989], [48619129, 48619222], [48620894, 48621038], [48622393, 48622447], [48624426, 48624579], [48626190, 48626273], [48626430, 48626575], [48630533, 48630605], [48631166, 48631277], [48634332, 48634428], [48636238, 48636354], [48637237, 48637323], [48638936, 48639036], [48639290, 48639382], [48640264, 48640341], [48640778, 48640945], [48643227, 48643400], [48646799, 48646856], [48647139, 48647220], [48653019, 48653098], [48653344, 48653467], [48660270, 48660397], [48664628, 48664764], [48665518, 48665608], [48668806, 48668823]]
NR_135500 [[48618701, 48618989], [48619129, 48619222], [48620894, 48621038], [48622393, 48622447], [48623423, 48624579], [48626190, 48626273], [48626430, 48626575], [48630533, 48630605], [48631166, 48631277], [48634332, 48634428], [48636238, 48636354], [48637237, 48637323], [48638936, 48639036], [48639290, 48639382], [48640264, 48640341], [48640778, 48640945], [48643227, 48643400], [48646799, 48646856], [48647139, 48647220], [48653019, 48653098], [48653344, 48653467], [48654488, 48654596], [48654724, 48654991], [48657128, 48657224], [48660270, 48660397], [48664628, 48664764], [48668806, 48668880], [48673497, 48673860]] None
NR_135498 [[48618701, 48618989], [48619129, 48619222], [48620894, 48621038], [48622393, 48622447], [48623423, 48624579], [48626190, 48626273], [48626430, 48626575], [48630533, 48630605], [48631166, 48631277], [48634332, 48634428], [48636238, 48636354], [48638936, 48639036], [48639290, 48639382], [48640264, 48640341], [48640778, 48640945], [48643227, 48643400], [48646799, 48646856], [48647134, 48647220], [48653019, 48653098], [48653344, 48653467], [48654488, 48654596], [48657128, 48657224], [48660270, 48660397], [48664628, 48664764], [48668806, 48668880], [48673497, 48673860]] None
NR_135499 [[48618701, 48618989], [48619129, 48619222], [48620894, 48621038], [48622393, 48622447], [48623423, 48624579], [48626190, 48626273], [48626430, 48626575], [48630533, 48630605], [48631166, 48631277], [48634332, 48634428], [48636238, 48636354], [48637237, 48637323], [48638936, 48639036], [48639290, 48639382], [48640264, 48640341], [48640778, 48640945], [48643227, 48643400], [48646799, 48646856], [48647139, 48647220], [48653019, 48653098], [48653344, 48653467], [48654488, 48654596], [48657128, 48657224], [48660270, 48660397], [48664628, 48664764], [48668806, 48668880], [48673497, 48673860]] None
NM_001320971 [[48618701, 48618989], [48619129, 48619222], [48620894, 48621038], [48622393, 48622447], [48624426, 48624579], [48626190, 48626273], [48626430, 48626575], [48630533, 48630605], [48631166, 48631277], [48634332, 48634428], [48636238, 48636354], [48637237, 48637323], [48638936, 48639036], [48639290, 48639382], [48640264, 48640341], [48640778, 48640945], [48643227, 48643400], [48646799, 48646856], [48647139, 48647220], [48653019, 48653098], [48653344, 48653467], [48654488, 48654596], [48657128, 48657224], [48660270, 48660397], [48664628, 48664764], [48668806, 48668880], [48673497, 48673860]] [[48618905, 48618989], [48619129, 48619222], [48620894, 48621038], [48622393, 48622447], [48624426, 48624579], [48626190, 48626273], [48626430, 48626575], [48630533, 48630605], [48631166, 48631277], [48634332, 48634428], [48636238, 48636354], [48637237, 48637323], [48638936, 48639036], [48639290, 48639382], [48640264, 48640341], [48640778, 48640945], [48643227, 48643400], [48646799, 48646856], [48647139, 48647220], [48653019, 48653098], [48653344, 48653467], [48654488, 48654596], [48657128, 48657224], [48660270, 48660397], [48664628, 48664764], [48668806, 48668823]]
NM_001289063 [[48618701, 48618989], [48619129, 48619222], [48620894, 48621038], [48622393, 48622447], [48624426, 48624579], [48626190, 48626273], [48626430, 48626575], [48630533, 48630605], [48631166, 48631277], [48634332, 48634428], [48636238, 48636354], [48637237, 48637323], [48638936, 48639036], [48639290, 48639382], [48640264, 48640341], [48640778, 48640945], [48643227, 48643400], [48646799, 48646856], [48647139, 48647220], [48653019, 48653098], [48653344, 48653467], [48654488, 48654593], [48657128, 48657224], [48660270, 48660397], [48664628, 48664764], [48668806, 48668880], [48673497, 48673860]] [[48618905, 48618989], [48619129, 48619222], [48620894, 48621038], [48622393, 48622447], [48624426, 48624579], [48626190, 48626273], [48626430, 48626575], [48630533, 48630605], [48631166, 48631277], [48634332, 48634428], [48636238, 48636354], [48637237, 48637323], [48638936, 48639036], [48639290, 48639382], [48640264, 48640341], [48640778, 48640945], [48643227, 48643400], [48646799, 48646856], [48647139, 48647220], [48653019, 48653098], [48653344, 48653467], [48654488, 48654593], [48657128, 48657224], [48660270, 48660397], [48664628, 48664764], [48668806, 48668823]]
NR_135501 [[48618701, 48618989], [48619129, 48619222], [48620894, 48621038], [48622393, 48622447], [48624426, 48624579], [48626190, 48626273], [48626430, 48626575], [48630533, 48630605], [48631166, 48631277], [48634332, 48634428], [48636238, 48636354], [48638936, 48639036], [48639290, 48639382], [48640264, 48640341], [48640778, 48640945], [48643227, 48643400], [48646799, 48646856], [48647139, 48647220], [48653019, 48653098], [48653344, 48653467], [48654488, 48654593], [48657128, 48657224], [48660270, 48660397], [48664628, 48664764], [48668806, 48668880], [48673497, 48673860]] None
Promoter
Chrom Start End Description
chr19 48673532 48673543 CAGE_peak_3_at_LIG1_5end
chr19 48673552 48673578 CAGE_peak_2_at_LIG1_5end
chr19 48673580 48673630 CAGE_peak_1_at_LIG1_5end

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