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
ENST00000262995 [[144257914, 144258413], [144336629, 144336924], [144354643, 144354869], [144359151, 144359753], [144360954, 144361040], [144361231, 144361535], [144378832, 144378922], [144380537, 144380631], [144381516, 144381640], [144387255, 144387378], [144390183, 144395721]] [[144258341, 144258413], [144336629, 144336924], [144354643, 144354869], [144359151, 144359753], [144360954, 144361040], [144361231, 144361535], [144378832, 144378922], [144380537, 144380631], [144381516, 144381640], [144387255, 144387378], [144390183, 144390342]]
ENST00000262994 [[144258039, 144258413], [144336629, 144336924], [144354643, 144354869], [144359151, 144359753], [144360954, 144361040], [144361231, 144361535], [144380537, 144380631], [144381516, 144381640], [144387255, 144387378], [144390183, 144390603]] [[144258341, 144258413], [144336629, 144336924], [144354643, 144354869], [144359151, 144359753], [144360954, 144361040], [144361231, 144361535], [144380537, 144380631], [144381516, 144381640], [144387255, 144387378], [144390183, 144390342]]
ENST00000514639 [[144258330, 144258413], [144336629, 144336924], [144354643, 144354869], [144355240, 144355321], [144359151, 144359194]] [[144258341, 144258413], [144336629, 144336924], [144354643, 144354869], [144355240, 144355321], [144359151, 144359194]]
ENST00000515366 [[144297977, 144298049], [144301764, 144301892], [144336629, 144336924], [144354643, 144354730]] [[144336866, 144336924], [144354643, 144354730]]
ENST00000505913 [[144303097, 144303183], [144336629, 144336924], [144354643, 144354869], [144359151, 144359753], [144360954, 144361040], [144361231, 144361535], [144380537, 144380631], [144381516, 144381640], [144387255, 144387378], [144390183, 144390720]] [[144336866, 144336924], [144354643, 144354869], [144359151, 144359753], [144360954, 144361040], [144361231, 144361535], [144380537, 144380631], [144381516, 144381640], [144387255, 144387378], [144390183, 144390342]]
ENST00000515388 [[144303100, 144303183], [144312596, 144312785], [144315969, 144316873]] None
ENST00000509992 [[144312662, 144312711], [144316969, 144317142], [144336629, 144336924], [144354643, 144354869]] [[144317133, 144317142], [144336629, 144336924], [144354643, 144354869]]
ENST00000511836 [[144336661, 144336924], [144338585, 144338703], [144354643, 144354833]] [[144336661, 144336924], [144338585, 144338605]]
ENST00000512843 [[144354643, 144354869], [144390316, 144390560]] [[144354643, 144354869], [144390316, 144390365]]
ENST00000507334 [[144359409, 144359753], [144360954, 144361169]] None
ENST00000507070 [[144360802, 144361040], [144361231, 144361535], [144378832, 144378922], [144380537, 144380582]] None
ENST00000510615 [[144360825, 144361040], [144361231, 144361535], [144380537, 144380586]] None
ENST00000508833 [[144361325, 144361535], [144378832, 144378922], [144380537, 144380631], [144381516, 144381640], [144387269, 144387328]] None
ENST00000511109 [[144387149, 144387378], [144390183, 144390792]] None
NM_002039 [[144257982, 144258413], [144336629, 144336924], [144354643, 144354869], [144359151, 144359753], [144360954, 144361040], [144361231, 144361535], [144380537, 144380631], [144381516, 144381640], [144387255, 144387378], [144390183, 144395718]] [[144258341, 144258413], [144336629, 144336924], [144354643, 144354869], [144359151, 144359753], [144360954, 144361040], [144361231, 144361535], [144380537, 144380631], [144381516, 144381640], [144387255, 144387378], [144390183, 144390342]]
NM_207123 [[144257982, 144258413], [144336629, 144336924], [144354643, 144354869], [144359151, 144359753], [144360954, 144361040], [144361231, 144361535], [144378832, 144378922], [144380537, 144380631], [144381516, 144381640], [144387255, 144387378], [144390183, 144395718]] [[144258341, 144258413], [144336629, 144336924], [144354643, 144354869], [144359151, 144359753], [144360954, 144361040], [144361231, 144361535], [144378832, 144378922], [144380537, 144380631], [144381516, 144381640], [144387255, 144387378], [144390183, 144390342]]
Promoter
Chrom Start End Description
chr4 144257552 144257580 CAGE_peak_7_at_GAB1_5end
chr4 144257585 144257614 CAGE_peak_4_at_GAB1_5end
chr4 144257672 144257687 CAGE_peak_2_at_GAB1_5end
chr4 144257700 144257721 CAGE_peak_8_at_GAB1_5end
chr4 144257726 144257735 CAGE_peak_10_at_GAB1_5end
chr4 144257996 144258009 CAGE_peak_6_at_GAB1_5end
chr4 144258021 144258052 CAGE_peak_1_at_GAB1_5end
chr4 144258062 144258073 CAGE_peak_9_at_GAB1_5end
chr4 144258288 144258353 CAGE_peak_5_at_GAB1_5end
chr4 144303093 144303132 CAGE_peak_3_at_GAB1_5end
chr4 144312629 144312638 CAGE_peak_30_at_GAB1_5end
chr4 144312659 144312668 CAGE_peak_25_at_GAB1_5end
chr4 144336624 144336668 CAGE_peak_12_at_GAB1_5end
chr4 144359690 144359704 CAGE_peak_13_at_GAB1_5end

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