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
ENST00000320717 [[191745552, 191746196], [191759877, 191759974], [191760329, 191760451], [191765289, 191765419], [191766672, 191766752], [191769729, 191769893], [191774988, 191775047], [191785749, 191785782], [191785870, 191785929], [191788642, 191788709], [191789268, 191789319], [191792031, 191792208], [191795162, 191795294], [191796270, 191796363], [191818290, 191818352], [191819309, 191819386], [191819480, 191819544], [191827555, 191830278]] [[191745810, 191746196], [191759877, 191759974], [191760329, 191760451], [191765289, 191765419], [191766672, 191766752], [191769729, 191769893], [191774988, 191775047], [191785749, 191785782], [191785870, 191785929], [191788642, 191788709], [191789268, 191789319], [191792031, 191792208], [191795162, 191795294], [191796270, 191796363], [191818290, 191818352], [191819309, 191819386], [191819480, 191819544], [191827555, 191827712]]
ENST00000338435 [[191745559, 191746196], [191759877, 191759974], [191760329, 191760451], [191765289, 191765419], [191766672, 191766752], [191769729, 191769893], [191774988, 191775047], [191785749, 191785782], [191785870, 191785929], [191788642, 191788709], [191789268, 191789319], [191792031, 191792208], [191795162, 191795294], [191796270, 191796363], [191797441, 191800015]] [[191745810, 191746196], [191759877, 191759974], [191760329, 191760451], [191765289, 191765419], [191766672, 191766752], [191769729, 191769893], [191774988, 191775047], [191785749, 191785782], [191785870, 191785929], [191788642, 191788709], [191789268, 191789319], [191792031, 191792208], [191795162, 191795294], [191796270, 191796363], [191797441, 191797588]]
ENST00000479552 [[191745597, 191746196], [191759877, 191761294]] None
ENST00000496170 [[191745880, 191746196], [191759877, 191759974], [191760329, 191760589]] None
ENST00000469774 [[191760377, 191760451], [191765289, 191765419], [191766672, 191766752], [191769729, 191770002]] None
ENST00000417154 [[191765389, 191765419], [191766672, 191766752], [191769729, 191769893], [191774988, 191775047], [191777918, 191778090], [191784940, 191784974], [191785749, 191785782], [191785870, 191785929], [191788642, 191788709], [191789268, 191789319], [191792031, 191792119]] [[191765389, 191765419], [191766672, 191766752], [191769729, 191769893], [191774988, 191775047], [191777918, 191777930]]
ENST00000461965 [[191774988, 191775047], [191785749, 191785782], [191785870, 191785929], [191788642, 191788709], [191789268, 191789319], [191792031, 191792337]] None
ENST00000468352 [[191784770, 191784974], [191785749, 191785782], [191785870, 191785929], [191788642, 191788709], [191789268, 191789318]] None
ENST00000495444 [[191785752, 191785782], [191785870, 191785929], [191788642, 191788709], [191789268, 191789506]] None
ENST00000409626 [[191791729, 191792208], [191795162, 191795294], [191796270, 191796363], [191797441, 191797734]] [[191792070, 191792208], [191795162, 191795294], [191796270, 191796363], [191797441, 191797588]]
ENST00000457316 [[191791741, 191792208], [191795162, 191795294], [191796270, 191796363], [191818290, 191818352], [191819309, 191819376]] [[191792070, 191792208], [191795162, 191795294], [191796270, 191796363], [191818290, 191818352], [191819309, 191819376]]
ENST00000409428 [[191792397, 191792456], [191795162, 191795294], [191796270, 191796363], [191818290, 191818352], [191819309, 191819386], [191819480, 191819544], [191827555, 191827884]] [[191795222, 191795294], [191796270, 191796363], [191818290, 191818352], [191819309, 191819386], [191819480, 191819544], [191827555, 191827712]]
ENST00000409215 [[191792418, 191792456], [191795162, 191795294], [191796270, 191796363], [191797441, 191797810]] [[191795222, 191795294], [191796270, 191796363], [191797441, 191797588]]
ENST00000412247 [[191795174, 191795294], [191796270, 191796363], [191818290, 191818352], [191819309, 191819386], [191827555, 191827896]] [[191795174, 191795294], [191796270, 191796363], [191818290, 191818352], [191819309, 191819386], [191827555, 191827752]]
ENST00000471443 [[191796288, 191796363], [191797382, 191797831]] None
NM_001256310 [[191745546, 191746196], [191759877, 191759974], [191760329, 191760451], [191765289, 191765419], [191766672, 191766752], [191769729, 191769893], [191774988, 191775047], [191785749, 191785782], [191785870, 191785929], [191788642, 191788709], [191789268, 191789319], [191792031, 191792208], [191795162, 191795294], [191796270, 191796363], [191797441, 191800015]] [[191745810, 191746196], [191759877, 191759974], [191760329, 191760451], [191765289, 191765419], [191766672, 191766752], [191769729, 191769893], [191774988, 191775047], [191785749, 191785782], [191785870, 191785929], [191788642, 191788709], [191789268, 191789319], [191792031, 191792208], [191795162, 191795294], [191796270, 191796363], [191797441, 191797588]]
NM_014905 [[191745546, 191746196], [191759877, 191759974], [191760329, 191760451], [191765289, 191765419], [191766672, 191766752], [191769729, 191769893], [191774988, 191775047], [191785749, 191785782], [191785870, 191785929], [191788642, 191788709], [191789268, 191789319], [191792031, 191792208], [191795162, 191795294], [191796270, 191796363], [191818290, 191818352], [191819309, 191819386], [191819480, 191819544], [191827555, 191830278]] [[191745810, 191746196], [191759877, 191759974], [191760329, 191760451], [191765289, 191765419], [191766672, 191766752], [191769729, 191769893], [191774988, 191775047], [191785749, 191785782], [191785870, 191785929], [191788642, 191788709], [191789268, 191789319], [191792031, 191792208], [191795162, 191795294], [191796270, 191796363], [191818290, 191818352], [191819309, 191819386], [191819480, 191819544], [191827555, 191827712]]
Promoter
Chrom Start End Description
chr2 191745264 191745275 CAGE_peak_21_at_GLS_5end
chr2 191745535 191745555 CAGE_peak_1_at_GLS_5end
chr2 191745563 191745574 CAGE_peak_2_at_GLS_5end
chr2 191792376 191792426 CAGE_peak_3_at_GLS_5end

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