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
ENST00000486715 [[158362066, 158362504], [158363417, 158363570], [158363953, 158364086], [158364531, 158364736], [158366829, 158366946], [158369884, 158370035], [158371098, 158371256], [158372335, 158372420], [158376710, 158376848], [158378662, 158378764], [158380416, 158380473], [158383125, 158383263], [158384092, 158384175], [158399783, 158399946], [158402312, 158402457], [158407951, 158408112], [158408927, 158408981], [158409124, 158410364]] [[158362423, 158362504], [158363417, 158363570], [158363953, 158364086], [158364531, 158364736], [158366829, 158366946], [158369884, 158370035], [158371098, 158371256], [158372335, 158372420], [158376710, 158376848], [158378662, 158378764], [158380416, 158380473], [158383125, 158383263], [158384092, 158384175], [158399783, 158399946], [158402312, 158402457], [158407951, 158408112], [158408927, 158408981], [158409124, 158409256]]
ENST00000478576 [[158362316, 158362504], [158363417, 158363570], [158363953, 158364086], [158364531, 158364736], [158366829, 158366946], [158369884, 158370035], [158371098, 158371256], [158372335, 158372420], [158376710, 158376848], [158378662, 158378764], [158380416, 158380473], [158383125, 158383263], [158384092, 158384175], [158399783, 158400222]] [[158362423, 158362504], [158363417, 158363570], [158363953, 158364086], [158364531, 158364736], [158366829, 158366946], [158369884, 158370035], [158371098, 158371256], [158372335, 158372420], [158376710, 158376848], [158378662, 158378764], [158380416, 158380473], [158383125, 158383263], [158384092, 158384175], [158399783, 158399958]]
ENST00000478254 [[158362316, 158362504], [158363417, 158363570], [158363953, 158364086], [158364531, 158364736], [158366829, 158366946], [158369884, 158370039], [158371102, 158371256], [158372335, 158372420], [158376710, 158376859], [158378671, 158378764], [158380416, 158380473], [158383125, 158383263], [158384092, 158384175], [158399783, 158399946], [158402312, 158402457], [158407951, 158408112], [158408927, 158408981], [158409124, 158410361]] [[158362423, 158362504], [158363417, 158363570], [158363953, 158364086], [158364531, 158364736], [158366829, 158366946], [158369884, 158370039], [158371102, 158371256], [158372335, 158372420], [158376710, 158376859], [158378671, 158378764], [158380416, 158380453]]
ENST00000264263 [[158362385, 158362504], [158363417, 158363570], [158363953, 158364086], [158364531, 158364736], [158366829, 158366946], [158367793, 158367850], [158369884, 158370035], [158371098, 158371256], [158372335, 158372420], [158376710, 158376848], [158378662, 158378764], [158380416, 158380473], [158383125, 158383263], [158384092, 158384175], [158399783, 158399946], [158402312, 158402457], [158407951, 158408112], [158408927, 158408981], [158409124, 158410358]] [[158362423, 158362504], [158363417, 158363570], [158363953, 158364086], [158364531, 158364736], [158366829, 158366946], [158367793, 158367850], [158369884, 158370035], [158371098, 158371256], [158372335, 158372420], [158376710, 158376848], [158378662, 158378764], [158380416, 158380473], [158383125, 158383263], [158384092, 158384175], [158399783, 158399946], [158402312, 158402457], [158407951, 158408112], [158408927, 158408981], [158409124, 158409256]]
ENST00000464732 [[158362493, 158362670], [158363417, 158363570], [158363953, 158364086], [158364531, 158364570]] [[158363561, 158363570], [158363953, 158364086], [158364531, 158364570]]
ENST00000478251 [[158364676, 158364736], [158366829, 158368809]] None
ENST00000312756 [[158369986, 158370035], [158371098, 158371256], [158372335, 158372420], [158373593, 158375307]] None
ENST00000490261 [[158378052, 158378413], [158378662, 158378764], [158380416, 158380473], [158383125, 158383196]] None
ENST00000477721 [[158399776, 158399946], [158402312, 158402457], [158407951, 158408375]] None
ENST00000481468 [[158399895, 158399946], [158402312, 158403103]] None
ENST00000472383 [[158402419, 158402457], [158408927, 158408981], [158409124, 158409688]] [[158402419, 158402457], [158408927, 158408941]]
NM_001308166 [[158362316, 158362504], [158363417, 158363570], [158363953, 158364086], [158364531, 158364736], [158366829, 158366946], [158369884, 158370035], [158371098, 158371256], [158372335, 158372420], [158376710, 158376848], [158378662, 158378764], [158380416, 158380473], [158383125, 158383263], [158384092, 158384175], [158399783, 158400222]] [[158362423, 158362504], [158363417, 158363570], [158363953, 158364086], [158364531, 158364736], [158366829, 158366946], [158369884, 158370035], [158371098, 158371256], [158372335, 158372420], [158376710, 158376848], [158378662, 158378764], [158380416, 158380473], [158383125, 158383263], [158384092, 158384175], [158399783, 158399958]]
NM_024996 [[158362316, 158362504], [158363417, 158363570], [158363953, 158364086], [158364531, 158364736], [158366829, 158366946], [158369884, 158370035], [158371098, 158371256], [158372335, 158372420], [158376710, 158376848], [158378662, 158378764], [158380416, 158380473], [158383125, 158383263], [158384092, 158384175], [158399783, 158399946], [158402312, 158402457], [158407951, 158408112], [158408927, 158408981], [158409124, 158410361]] [[158362423, 158362504], [158363417, 158363570], [158363953, 158364086], [158364531, 158364736], [158366829, 158366946], [158369884, 158370035], [158371098, 158371256], [158372335, 158372420], [158376710, 158376848], [158378662, 158378764], [158380416, 158380473], [158383125, 158383263], [158384092, 158384175], [158399783, 158399946], [158402312, 158402457], [158407951, 158408112], [158408927, 158408981], [158409124, 158409256]]
NM_001308164 [[158362316, 158362504], [158363417, 158363570], [158363953, 158364086], [158364531, 158364736], [158366829, 158366946], [158367793, 158367850], [158369884, 158370035], [158371098, 158371256], [158372335, 158372420], [158376710, 158376848], [158378662, 158378764], [158380416, 158380473], [158383125, 158383263], [158384092, 158384175], [158399783, 158399946], [158402312, 158402457], [158407951, 158408112], [158408927, 158408981], [158409124, 158410361]] [[158362423, 158362504], [158363417, 158363570], [158363953, 158364086], [158364531, 158364736], [158366829, 158366946], [158367793, 158367850], [158369884, 158370035], [158371098, 158371256], [158372335, 158372420], [158376710, 158376848], [158378662, 158378764], [158380416, 158380473], [158383125, 158383263], [158384092, 158384175], [158399783, 158399946], [158402312, 158402457], [158407951, 158408112], [158408927, 158408981], [158409124, 158409256]]
Promoter
Chrom Start End Description
chr3 158362299 158362422 CAGE_peak_1_at_GFM1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I158700 158700232 158704538 0.72 [{'connected_gene': 'GFM1', 'score': 27.3}, {'connected_gene': 'ENSG00000240207', 'score': 21.64}, {'connected_gene': 'MFSD1', 'score': 19.07}, {'connected_gene': 'LXN', 'score': 11.77}, {'connected_gene': 'RARRES1', 'score': 11.51}, {'connected_gene': 'MLF1', 'score': 10.04}, {'connected_gene': 'ENSG00000272440', 'score': 0.44}, {'connected_gene': 'PIR52872', 'score': 0.39}]
chr3 GH03I158683 158683712 158683861 0.31 [{'connected_gene': 'GFM1', 'score': 22.35}, {'connected_gene': 'ENSG00000272087', 'score': 0.44}, {'connected_gene': 'LXN', 'score': 0.39}]
chr3 GH03I158658 158658714 158661710 0.72 [{'connected_gene': 'GFM1', 'score': 27.47}, {'connected_gene': 'MLF1', 'score': 21.26}, {'connected_gene': 'ENSG00000240207', 'score': 19.93}, {'connected_gene': 'RARRES1', 'score': 11.56}, {'connected_gene': 'MFSD1', 'score': 11.56}, {'connected_gene': 'LXN', 'score': 0.39}]
chr3 GH03I158668 158668632 158668801 0.2 [{'connected_gene': 'GFM1', 'score': 27.44}, {'connected_gene': 'MLF1', 'score': 5.48}, {'connected_gene': 'LXN', 'score': 0.77}]
chr3 GH03I158684 158684792 158685937 0.38 [{'connected_gene': 'GFM1', 'score': 27.37}, {'connected_gene': 'MLF1', 'score': 21.49}, {'connected_gene': 'ENSG00000240207', 'score': 8.62}, {'connected_gene': 'ENSG00000272087', 'score': 0.44}, {'connected_gene': 'LXN', 'score': 0.39}]
chr3 GH03I158643 158643860 158645655 2.1 [{'connected_gene': 'GFM1', 'score': 577.87}, {'connected_gene': 'MLF1', 'score': 21.28}, {'connected_gene': 'ENSG00000271778', 'score': 13.01}, {'connected_gene': 'ENSG00000272440', 'score': 11.65}, {'connected_gene': 'ENSG00000240207', 'score': 10.12}, {'connected_gene': 'LXN', 'score': 0.31}]
chr3 GH03I158817 158817700 158822686 0.2 [{'connected_gene': 'MFSD1', 'score': 12.59}, {'connected_gene': 'ENSG00000272247', 'score': 11.93}, {'connected_gene': 'ENSG00000240207', 'score': 11.9}, {'connected_gene': 'MLF1', 'score': 8.25}, {'connected_gene': 'GFM1', 'score': 7.2}, {'connected_gene': 'ENSG00000271778', 'score': 5.61}, {'connected_gene': 'PIR50004', 'score': 0.44}, {'connected_gene': 'GC03P158833', 'score': 0.39}]
chr3 GH03I158101 158101490 158107934 1.95 [{'connected_gene': 'SHOX2', 'score': 561.21}, {'connected_gene': 'RSRC1', 'score': 550.77}, {'connected_gene': 'CCNL1', 'score': 9.81}, {'connected_gene': 'MLF1', 'score': 5.48}, {'connected_gene': 'ENSG00000240207', 'score': 4.27}, {'connected_gene': 'GFM1', 'score': 4.19}, {'connected_gene': 'ENSG00000242536', 'score': 0.37}]
chr3 GH03I158669 158669945 158673505 1.85 [{'connected_gene': 'LXN', 'score': 555.86}, {'connected_gene': 'GFM1', 'score': 27.42}, {'connected_gene': 'MLF1', 'score': 21.24}, {'connected_gene': 'ENSG00000240207', 'score': 10.16}]
chr3 GH03I158792 158792034 158793580 0.73 [{'connected_gene': 'MLF1', 'score': 21.9}, {'connected_gene': 'ENSG00000240207', 'score': 11.89}, {'connected_gene': 'RARRES1', 'score': 11.89}, {'connected_gene': 'MFSD1', 'score': 11.89}, {'connected_gene': 'LXN', 'score': 11.41}, {'connected_gene': 'GFM1', 'score': 11.19}, {'connected_gene': 'LOC100996447', 'score': 9.78}, {'connected_gene': 'ENSG00000271778', 'score': 7.91}, {'connected_gene': 'ENSG00000272247', 'score': 0.44}]
chr3 GH03I157855 157855775 157857508 1.16 [{'connected_gene': 'KRT18P34', 'score': 5.15}, {'connected_gene': 'GFM1', 'score': 5.06}, {'connected_gene': 'GC03P157877', 'score': 0.34}, {'connected_gene': 'GC03M157766', 'score': 0.2}]
chr3 GH03I158715 158715760 158728541 1.7 [{'connected_gene': 'ENSG00000240207', 'score': 31.11}, {'connected_gene': 'GFM1', 'score': 22.63}, {'connected_gene': 'MLF1', 'score': 19.47}, {'connected_gene': 'LXN', 'score': 11.03}, {'connected_gene': 'MFSD1', 'score': 10.58}, {'connected_gene': 'ENSG00000272247', 'score': 3.96}, {'connected_gene': 'PIR52872', 'score': 0.44}, {'connected_gene': 'RARRES1', 'score': 0.39}]
chr3 GH03I158709 158709071 158714400 1.37 [{'connected_gene': 'ENSG00000240207', 'score': 44.07}, {'connected_gene': 'GFM1', 'score': 22.81}, {'connected_gene': 'MLF1', 'score': 17.51}, {'connected_gene': 'LXN', 'score': 16.57}, {'connected_gene': 'RARRES1', 'score': 12.75}, {'connected_gene': 'MFSD1', 'score': 12.75}, {'connected_gene': 'ENSG00000272247', 'score': 5.06}, {'connected_gene': 'PIR52872', 'score': 0.77}, {'connected_gene': 'ENSG00000272440', 'score': 0.37}]
chr3 GH03I158917 158917592 158918611 0.56 [{'connected_gene': 'GC03M158916', 'score': 550.77}, {'connected_gene': 'IQCJ', 'score': 11.38}, {'connected_gene': 'GFM1', 'score': 5.21}, {'connected_gene': 'RSRC1', 'score': 5.01}, {'connected_gene': 'IQCJ-SCHIP1', 'score': 0.26}]
chr3 GH03I158800 158800816 158803601 1.76 [{'connected_gene': 'ENSG00000272247', 'score': 569.58}, {'connected_gene': 'MFSD1', 'score': 17.82}, {'connected_gene': 'ENSG00000240207', 'score': 17.2}, {'connected_gene': 'ENSG00000271778', 'score': 13.26}, {'connected_gene': 'RARRES1', 'score': 11.76}, {'connected_gene': 'ENSG00000272440', 'score': 11.56}, {'connected_gene': 'ENSG00000243675', 'score': 10.51}, {'connected_gene': 'GFM1', 'score': 5.22}, {'connected_gene': 'PIR50004', 'score': 0.39}]
chr3 GH03I158731 158731295 158733269 1.85 [{'connected_gene': 'ENSG00000240207', 'score': 577.39}, {'connected_gene': 'MFSD1', 'score': 556.25}, {'connected_gene': 'RARRES1', 'score': 550.77}, {'connected_gene': 'LOC100287290', 'score': 550.77}, {'connected_gene': 'MLF1', 'score': 16.64}, {'connected_gene': 'GFM1', 'score': 14.62}, {'connected_gene': 'ENSG00000272247', 'score': 4.74}]
chr3 GH03I158776 158776601 158776800 0.4 [{'connected_gene': 'PIR51214', 'score': 550.77}, {'connected_gene': 'RARRES1', 'score': 12.61}, {'connected_gene': 'MFSD1', 'score': 12.61}, {'connected_gene': 'ENSG00000240207', 'score': 12.61}, {'connected_gene': 'GFM1', 'score': 4.0}, {'connected_gene': 'ENSG00000271778', 'score': 0.44}, {'connected_gene': 'LOC100287290', 'score': 0.26}]
chr3 GH03I158791 158791001 158791723 1.22 [{'connected_gene': 'ENSG00000240207', 'score': 11.9}, {'connected_gene': 'RARRES1', 'score': 11.9}, {'connected_gene': 'MFSD1', 'score': 11.9}, {'connected_gene': 'LXN', 'score': 11.41}, {'connected_gene': 'GFM1', 'score': 11.19}, {'connected_gene': 'MLF1', 'score': 9.78}, {'connected_gene': 'LOC100996447', 'score': 9.78}, {'connected_gene': 'ENSG00000271778', 'score': 0.44}, {'connected_gene': 'ENSG00000272247', 'score': 0.39}]
chr3 GH03I158788 158788238 158789321 0.66 [{'connected_gene': 'ENSG00000271778', 'score': 16.58}, {'connected_gene': 'RARRES1', 'score': 12.95}, {'connected_gene': 'MFSD1', 'score': 12.95}, {'connected_gene': 'ENSG00000240207', 'score': 12.95}, {'connected_gene': 'LXN', 'score': 10.48}, {'connected_gene': 'GFM1', 'score': 7.0}, {'connected_gene': 'ENSG00000272247', 'score': 0.39}]
chr3 GH03I158767 158767381 158775583 1.92 [{'connected_gene': 'ENSG00000240207', 'score': 22.94}, {'connected_gene': 'ENSG00000271778', 'score': 16.94}, {'connected_gene': 'RARRES1', 'score': 12.62}, {'connected_gene': 'MFSD1', 'score': 12.62}, {'connected_gene': 'MLF1', 'score': 12.38}, {'connected_gene': 'ENSG00000272247', 'score': 11.81}, {'connected_gene': 'GFM1', 'score': 7.02}, {'connected_gene': 'LXN', 'score': 6.64}, {'connected_gene': 'PIR51214', 'score': 0.77}, {'connected_gene': 'ENSG00000243675', 'score': 0.44}, {'connected_gene': 'LOC100287290', 'score': 0.28}]

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