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
ENST00000356688 [[110300558, 110301901], [110303036, 110303119], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110350627, 110350696], [110371374, 110371720]] [[110301698, 110301901], [110303036, 110303119], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110350627, 110350696], [110371374, 110371404]]
ENST00000397712 [[110300558, 110301901], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110350627, 110350696], [110371374, 110371783]] [[110301885, 110301901], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110350627, 110350696], [110371374, 110371404]]
ENST00000397714 [[110300562, 110301901], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110371374, 110371504]] [[110301885, 110301901], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110371374, 110371404]]
ENST00000334001 [[110301645, 110301901], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110350627, 110350696], [110371374, 110371492]] [[110301885, 110301901], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110350627, 110350641]]
ENST00000437928 [[110301813, 110301901], [110302961, 110303119], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110350627, 110350696], [110362411, 110362510], [110371374, 110371492]] [[110303001, 110303119], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110350627, 110350681]]
ENST00000545389 [[110303347, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110350627, 110350696], [110371374, 110371670]] [[110303622, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110350627, 110350696], [110371374, 110371404]]
ENST00000415095 [[110303378, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110350627, 110350696], [110371374, 110371412]] [[110303622, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110350627, 110350696], [110371374, 110371404]]
ENST00000486678 [[110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110350627, 110350696], [110371374, 110371670]] [[110332326, 110332344], [110350627, 110350696], [110371374, 110371404]]
ENST00000425498 [[110322001, 110322111], [110323339, 110323436], [110325391, 110325553], [110350623, 110350696], [110371374, 110371498]] [[110325509, 110325553], [110350623, 110350696], [110371374, 110371404]]
ENST00000493445 [[110322095, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110371374, 110371495]] [[110322095, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332178]]
ENST00000423520 [[110323406, 110323436], [110325391, 110325553], [110350627, 110350696], [110371374, 110371670]] [[110323406, 110323436], [110325391, 110325553], [110350627, 110350696], [110371374, 110371404]]
ENST00000461295 [[110325495, 110325553], [110332157, 110332344], [110342702, 110342898], [110371374, 110371514]] [[110325495, 110325553], [110332157, 110332178]]
ENST00000411469 [[110343296, 110343415], [110350627, 110350696], [110370997, 110371081]] [[110343296, 110343415], [110350627, 110350681]]
ENST00000442746 [[110343302, 110343415], [110350627, 110350696], [110370688, 110371087]] [[110343302, 110343415], [110350627, 110350696], [110370688, 110370691]]
ENST00000468616 [[110303606, 110303814], [110321942, 110322111], [110323339, 110323436], [110325391, 110325448]] None
ENST00000483047 [[110321791, 110322111], [110323339, 110323436], [110325391, 110325430]] None
NM_001321513 [[110300373, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110350627, 110350696], [110370688, 110371234]] [[110303622, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110350627, 110350696], [110370688, 110370691]]
NM_001321515 [[110300373, 110301901], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110370688, 110371234]] [[110301885, 110301901], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110370688, 110370691]]
NM_001321514 [[110300373, 110301901], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110350627, 110350696], [110370997, 110371234]] [[110301885, 110301901], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110350627, 110350681]]
NM_001321501 [[110300373, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110350623, 110350696], [110371374, 110371783]] [[110303622, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343388]]
NM_001321509 [[110300373, 110301901], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110350623, 110350696], [110371374, 110371783]] [[110301885, 110301901], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343388]]
NM_001321512 [[110300373, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110350627, 110350696], [110371374, 110371783]] [[110303622, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110350627, 110350696], [110371374, 110371404]]
NM_001321498 [[110300373, 110301901], [110303036, 110303119], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110350627, 110350696], [110371374, 110371783]] [[110301698, 110301901], [110303036, 110303119], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110350627, 110350696], [110371374, 110371404]]
NM_144710 [[110300373, 110301901], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110350627, 110350696], [110371374, 110371783]] [[110301885, 110301901], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110350627, 110350696], [110371374, 110371404]]
NM_001321507 [[110300373, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110350627, 110350696], [110371374, 110371783]] [[110303622, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110350627, 110350641]]
NM_001321496 [[110300373, 110301901], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110350627, 110350696], [110371374, 110371783]] [[110301885, 110301901], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110350627, 110350641]]
NM_001321499 [[110300373, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110350627, 110350696], [110371374, 110371783]] [[110303622, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110350627, 110350696], [110371374, 110371404]]
NM_001321510 [[110300373, 110301901], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110350627, 110350696], [110371374, 110371783]] [[110301885, 110301901], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110350627, 110350696], [110371374, 110371404]]
NM_001321500 [[110300373, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110371374, 110371783]] [[110303622, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110371374, 110371404]]
NM_178584 [[110300373, 110301901], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110371374, 110371783]] [[110301885, 110301901], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110371374, 110371404]]
NM_001321502 [[110300373, 110303814], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110371374, 110371783]] [[110303762, 110303814], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110342702, 110342898], [110343297, 110343415], [110371374, 110371404]]
NM_001321504 [[110300373, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110371374, 110371783]] [[110303622, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332178]]
NM_001321505 [[110300373, 110301901], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110371374, 110371783]] [[110301885, 110301901], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332178]]
NM_001321508 [[110300373, 110303814], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332344], [110371374, 110371783]] [[110303762, 110303814], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110332157, 110332178]]
NM_001321511 [[110300373, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110371374, 110371783]] [[110303622, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110371374, 110371404]]
NM_001321506 [[110300373, 110301901], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110371374, 110371783]] [[110301885, 110301901], [110303626, 110303814], [110310663, 110310796], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110371374, 110371404]]
NM_001321503 [[110300373, 110303814], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110371374, 110371783]] [[110303762, 110303814], [110321942, 110322111], [110323339, 110323436], [110325391, 110325553], [110371374, 110371404]]
Promoter
Chrom Start End Description
chr2 110371238 110371250 CAGE_peak_7_at_SEPT10_5end
chr2 110371455 110371562 CAGE_peak_1_at_SEPT10_5end
chr2 110371664 110371675 CAGE_peak_3_at_SEPT10_5end
chr2 110371723 110371750 CAGE_peak_2_at_SEPT10_5end
chr2 110371751 110371758 CAGE_peak_6_at_SEPT10_5end
chr2 110371763 110371772 CAGE_peak_4_at_SEPT10_5end
chr2 110371777 110371787 CAGE_peak_5_at_SEPT10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I109707 109707130 109708544 0.31 [{'connected_gene': 'LIMS3', 'score': 12.69}, {'connected_gene': 'SEPT10', 'score': 4.26}, {'connected_gene': 'LOC105373545', 'score': 0.39}, {'connected_gene': 'GC02M109641', 'score': 0.39}, {'connected_gene': 'GC02M109642', 'score': 0.39}]
chr2 GH02I109596 109596974 109598133 0.46 [{'connected_gene': 'SOWAHC', 'score': 7.9}, {'connected_gene': 'SEPT10', 'score': 7.84}, {'connected_gene': 'ENSG00000230696', 'score': 0.44}, {'connected_gene': 'GC02M109583', 'score': 0.39}]
chr2 GH02I109561 109561985 109562275 0.23 [{'connected_gene': 'SOWAHC', 'score': 7.31}, {'connected_gene': 'RPL37P12', 'score': 0.44}, {'connected_gene': 'GC02M109583', 'score': 0.34}, {'connected_gene': 'SEPT10', 'score': 0.23}]
chr2 GH02I109097 109097792 109099451 0.2 [{'connected_gene': 'SH3RF3', 'score': 10.92}, {'connected_gene': 'SEPT10', 'score': 4.18}, {'connected_gene': 'LOC105373543', 'score': 0.31}, {'connected_gene': 'ENSG00000277628', 'score': 0.31}]
chr2 GH02I109605 109605716 109616717 2.45 [{'connected_gene': 'SEPT10', 'score': 565.74}, {'connected_gene': 'SOWAHC', 'score': 559.03}, {'connected_gene': 'RANBP2', 'score': 11.37}, {'connected_gene': 'SMIM37', 'score': 4.61}, {'connected_gene': 'GPAA1P2', 'score': 4.11}, {'connected_gene': 'ENSG00000230696', 'score': 0.44}]
chr2 GH02I109557 109557788 109559894 1.13 [{'connected_gene': 'SEPT10', 'score': 14.12}, {'connected_gene': 'SOWAHC', 'score': 4.76}, {'connected_gene': 'RPL37P12', 'score': 0.44}, {'connected_gene': 'GC02M109583', 'score': 0.31}]
chr2 GH02I109630 109630256 109633185 0.89 [{'connected_gene': 'SEPT10', 'score': 13.67}, {'connected_gene': 'SOWAHC', 'score': 8.77}, {'connected_gene': 'GC02P109639', 'score': 0.44}]
chr2 GH02I109647 109647566 109648354 0.76 [{'connected_gene': 'SEPT10', 'score': 7.64}, {'connected_gene': 'LOC645135', 'score': 4.32}, {'connected_gene': 'GC02M109643', 'score': 0.77}, {'connected_gene': 'ENSG00000230603', 'score': 0.37}, {'connected_gene': 'GC02M109641', 'score': 0.19}, {'connected_gene': 'GC02M109642', 'score': 0.19}]
chr2 GH02I109680 109680385 109681827 0.69 [{'connected_gene': 'SEPT10', 'score': 4.63}, {'connected_gene': 'LOC105373545', 'score': 0.39}, {'connected_gene': 'BMS1P19', 'score': 0.39}, {'connected_gene': 'GC02M109641', 'score': 0.28}, {'connected_gene': 'GC02M109642', 'score': 0.28}]
chr2 GH02I109554 109554237 109556235 0.57 [{'connected_gene': 'SEPT10', 'score': 13.65}, {'connected_gene': 'RPL37P12', 'score': 0.77}, {'connected_gene': 'GC02M109583', 'score': 0.31}]
chr2 GH02I109560 109560152 109560868 0.38 [{'connected_gene': 'SEPT10', 'score': 7.88}, {'connected_gene': 'RPL37P12', 'score': 0.44}, {'connected_gene': 'GC02M109583', 'score': 0.34}]
chr2 GH02I109516 109516484 109516633 0.81 [{'connected_gene': 'SEPT10', 'score': 5.69}, {'connected_gene': 'PIR44603', 'score': 0.37}, {'connected_gene': 'RPL37P12', 'score': 0.28}]
chr2 GH02I109513 109513585 109514949 1.29 [{'connected_gene': 'SEPT10', 'score': 9.88}, {'connected_gene': 'PIR44603', 'score': 0.37}, {'connected_gene': 'RPL37P12', 'score': 0.28}]
chr2 GH02I109546 109546224 109546373 0.78 [{'connected_gene': 'RPL37P12', 'score': 0.44}, {'connected_gene': 'PIR44603', 'score': 0.25}, {'connected_gene': 'SEPT10', 'score': 0.2}]
chr2 GH02I109562 109562544 109562693 0.46 [{'connected_gene': 'RPL37P12', 'score': 0.39}, {'connected_gene': 'GC02M109583', 'score': 0.34}, {'connected_gene': 'SEPT10', 'score': 0.23}]
chr2 GH02I109635 109635329 109639175 1.29 [{'connected_gene': 'GC02P109639', 'score': 550.77}, {'connected_gene': 'SOWAHC', 'score': 14.24}, {'connected_gene': 'SEPT10', 'score': 14.07}, {'connected_gene': 'RANBP2', 'score': 11.48}, {'connected_gene': 'RGPD6', 'score': 9.8}]
chr2 GH02I109125 109125005 109127136 0.85 [{'connected_gene': 'ENSG00000277628', 'score': 550.77}, {'connected_gene': 'SH3RF3', 'score': 8.68}, {'connected_gene': 'SEPT10', 'score': 3.84}]
chr2 GH02I109643 109643043 109646889 1.41 [{'connected_gene': 'GC02M109643', 'score': 550.77}, {'connected_gene': 'SEPT10', 'score': 9.19}, {'connected_gene': 'LOC645135', 'score': 5.02}, {'connected_gene': 'LINC01123', 'score': 4.82}, {'connected_gene': 'ENSG00000230603', 'score': 0.34}, {'connected_gene': 'GC02M109641', 'score': 0.19}, {'connected_gene': 'GC02M109642', 'score': 0.19}]
chr2 GH02I109604 109604485 109605425 0.85 [{'connected_gene': 'ENSG00000230696', 'score': 550.77}, {'connected_gene': 'SEPT10', 'score': 0.44}, {'connected_gene': 'GC02M109583', 'score': 0.34}]