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
ENST00000356341 [[77032751, 77034405], [77043774, 77043912], [77047130, 77047327], [77048368, 77048468], [77051690, 77051808], [77054863, 77054976], [77060283, 77060332], [77064580, 77064644], [77066712, 77066887], [77069942, 77070062], [77085372, 77085410], [77090285, 77090433], [77090938, 77091039], [77103375, 77103586], [77184596, 77185107]] [[77034318, 77034405], [77043774, 77043912], [77047130, 77047327], [77048368, 77048468], [77051690, 77051808], [77054863, 77054976], [77060283, 77060332], [77064580, 77064644], [77066712, 77066887], [77069942, 77070062], [77085372, 77085410], [77090285, 77090433], [77090938, 77091039], [77103375, 77103565]]
ENST00000530617 [[77033061, 77034199], [77043774, 77043912], [77047130, 77047327], [77048368, 77048468], [77051690, 77051808], [77054863, 77054976], [77060283, 77060332], [77064580, 77064644], [77066712, 77066887], [77069942, 77070062], [77085372, 77085410], [77090285, 77090433], [77090938, 77091039], [77103375, 77103586], [77122818, 77123109]] [[77034181, 77034199], [77043774, 77043912], [77047130, 77047327], [77048368, 77048468], [77051690, 77051808], [77054863, 77054976], [77060283, 77060332], [77064580, 77064644], [77066712, 77066887], [77069942, 77070062], [77085372, 77085410], [77090285, 77090433], [77090938, 77091039], [77103375, 77103565]]
ENST00000278568 [[77033992, 77034405], [77036372, 77036421], [77043774, 77043912], [77047130, 77047327], [77048368, 77048468], [77051690, 77051808], [77054863, 77054976], [77060283, 77060332], [77064580, 77064644], [77066712, 77066887], [77069942, 77070062], [77085372, 77085410], [77090285, 77090433], [77090938, 77091039], [77103375, 77103586], [77184596, 77185105]] [[77034343, 77034405], [77036372, 77036421], [77043774, 77043912], [77047130, 77047327], [77048368, 77048468], [77051690, 77051808], [77054863, 77054976], [77060283, 77060332], [77064580, 77064644], [77066712, 77066887], [77069942, 77070062], [77085372, 77085410], [77090285, 77090433], [77090938, 77091039], [77103375, 77103565]]
ENST00000528203 [[77034068, 77034405], [77036372, 77036421], [77043774, 77043912], [77047130, 77047327], [77048368, 77048468], [77051690, 77051808], [77054863, 77054976], [77060283, 77060332], [77064580, 77064644], [77066712, 77066887], [77069942, 77070062], [77085372, 77085410], [77090285, 77090433], [77090938, 77091039], [77122818, 77122949]] [[77034343, 77034405], [77036372, 77036421], [77043774, 77043912], [77047130, 77047327], [77048368, 77048468], [77051690, 77051808], [77054863, 77054976], [77060283, 77060332], [77064580, 77064644], [77066712, 77066887], [77069942, 77070062], [77085372, 77085410], [77090285, 77090430]]
ENST00000527457 [[77034255, 77034405], [77043774, 77043912], [77047130, 77047327], [77051690, 77051808], [77066712, 77066887], [77069942, 77070062], [77085372, 77085410], [77090285, 77090396]] [[77051749, 77051808], [77066712, 77066887], [77069942, 77070062], [77085372, 77085410], [77090285, 77090396]]
ENST00000533468 [[77066749, 77066887], [77069942, 77070062], [77085372, 77085410], [77090285, 77090492]] None
ENST00000533568 [[77069885, 77070062], [77085372, 77085410], [77090285, 77090433], [77090938, 77091039], [77103375, 77103586], [77184453, 77184540]] None
ENST00000525542 [[77034313, 77034405], [77043774, 77043912], [77047130, 77047327], [77048368, 77048468], [77051690, 77051808], [77054863, 77054976], [77060283, 77060332], [77069942, 77069998]] None
ENST00000533285 [[77040194, 77040357], [77043774, 77043912], [77047130, 77047327], [77048368, 77048468], [77051690, 77051808], [77054863, 77054976], [77060283, 77060332]] [[77040339, 77040357], [77043774, 77043912], [77047130, 77047327], [77048368, 77048468], [77051690, 77051808], [77054863, 77054976], [77060283, 77060332]]
ENST00000527535 [[77043902, 77043912], [77047130, 77047327], [77048368, 77048468], [77051690, 77051808], [77054863, 77054976], [77058079, 77058117]] [[77054957, 77054976], [77058079, 77058117]]
ENST00000532991 [[77047160, 77047327], [77048368, 77048468], [77051690, 77051808], [77054863, 77054976], [77060283, 77060591]] None
ENST00000532711 [[77047298, 77047327], [77051690, 77051808], [77054863, 77055024]] None
ENST00000530358 [[77060292, 77060332], [77064580, 77064644], [77066712, 77067343]] None
ENST00000526103 [[77064175, 77064644], [77066712, 77066996]] None
ENST00000526910 [[77090239, 77090433], [77090938, 77091039], [77103375, 77103428]] None
ENST00000529248 [[77090404, 77090433], [77090938, 77091039], [77103375, 77103583], [77108071, 77108138], [77122818, 77122989]] [[77090406, 77090433], [77090938, 77091039], [77103375, 77103565]]
ENST00000524847 [[77090427, 77090433], [77090938, 77091039], [77103375, 77103586], [77166925, 77166982], [77184596, 77184780]] [[77090427, 77090433], [77090938, 77091039], [77103375, 77103565]]
ENST00000528592 [[77090961, 77091039], [77103375, 77103586], [77108071, 77108203], [77122818, 77122978]] [[77090961, 77091039], [77103375, 77103565]]
ENST00000528633 [[77103375, 77103586], [77119198, 77119277], [77122818, 77122978]] [[77103375, 77103565]]
ENST00000526968 [[77103487, 77103586], [77108071, 77108138], [77185344, 77185680]] [[77103487, 77103565]]
NM_001128620 [[77033059, 77034405], [77036372, 77036421], [77043774, 77043912], [77047130, 77047327], [77048368, 77048468], [77051690, 77051808], [77054863, 77054976], [77060283, 77060332], [77064580, 77064644], [77066712, 77066887], [77069942, 77070062], [77085372, 77085410], [77090285, 77090433], [77090938, 77091039], [77103375, 77103586], [77184596, 77185108]] [[77034343, 77034405], [77036372, 77036421], [77043774, 77043912], [77047130, 77047327], [77048368, 77048468], [77051690, 77051808], [77054863, 77054976], [77060283, 77060332], [77064580, 77064644], [77066712, 77066887], [77069942, 77070062], [77085372, 77085410], [77090285, 77090433], [77090938, 77091039], [77103375, 77103565]]
NM_002576 [[77033059, 77034405], [77043774, 77043912], [77047130, 77047327], [77048368, 77048468], [77051690, 77051808], [77054863, 77054976], [77060283, 77060332], [77064580, 77064644], [77066712, 77066887], [77069942, 77070062], [77085372, 77085410], [77090285, 77090433], [77090938, 77091039], [77103375, 77103586], [77184596, 77185108]] [[77034318, 77034405], [77043774, 77043912], [77047130, 77047327], [77048368, 77048468], [77051690, 77051808], [77054863, 77054976], [77060283, 77060332], [77064580, 77064644], [77066712, 77066887], [77069942, 77070062], [77085372, 77085410], [77090285, 77090433], [77090938, 77091039], [77103375, 77103565]]
Promoter
Chrom Start End Description
chr11 77066830 77066843 CAGE_peak_16_at_PAK1_5end
chr11 77090326 77090366 CAGE_peak_12_at_PAK1_5end
chr11 77090408 77090436 CAGE_peak_15_at_PAK1_5end
chr11 77122928 77123045 CAGE_peak_1_at_PAK1_5end
chr11 77123065 77123077 CAGE_peak_11_at_PAK1_5end
chr11 77184570 77184579 CAGE_peak_22_at_PAK1_5end
chr11 77184615 77184650 CAGE_peak_4_at_PAK1_5end
chr11 77184651 77184688 CAGE_peak_5_at_PAK1_5end
chr11 77184739 77184786 CAGE_peak_3_at_PAK1_5end
chr11 77184878 77184889 CAGE_peak_17_at_PAK1_5end
chr11 77184914 77184962 CAGE_peak_6_at_PAK1_5end
chr11 77184963 77185028 CAGE_peak_2_at_PAK1_5end
chr11 77185029 77185043 CAGE_peak_9_at_PAK1_5end
chr11 77185057 77185070 CAGE_peak_13_at_PAK1_5end
chr11 77185094 77185113 CAGE_peak_10_at_PAK1_5end
chr11 77185132 77185144 CAGE_peak_8_at_PAK1_5end
chr11 77185167 77185174 CAGE_peak_18_at_PAK1_5end
chr11 77185361 77185408 CAGE_peak_7_at_PAK1_5end