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
ENST00000392499 [[186256229, 186256757], [186257143, 186257386], [186262094, 186262144], [186264180, 186264491]] [[186256484, 186256757], [186257143, 186257386], [186262094, 186262115]]
ENST00000460288 [[186256387, 186256757], [186257143, 186258309]] None
ENST00000307944 [[186256387, 186256757], [186257143, 186257386], [186262094, 186262240]] [[186256484, 186256757], [186257143, 186257386], [186262094, 186262115]]
NM_017541 [[186256227, 186256757], [186257143, 186257386], [186262094, 186262240]] [[186256484, 186256757], [186257143, 186257386], [186262094, 186262115]]
Promoter
Chrom Start End Description
chr3 186262166 186262170 CAGE_peak_1_at_CRYGS_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I186532 186532183 186535004 1.01 [{'connected_gene': 'ST6GAL1', 'score': 3.8}, {'connected_gene': 'TBCCD1', 'score': 2.41}, {'connected_gene': 'EIF4A2', 'score': 1.28}, {'connected_gene': 'CRYGS', 'score': 0.39}, {'connected_gene': 'LINC02052', 'score': 0.28}]
chr3 GH03I186525 186525402 186527040 1.16 [{'connected_gene': 'ST6GAL1', 'score': 5.36}, {'connected_gene': 'CRYGS', 'score': 0.34}, {'connected_gene': 'LINC02052', 'score': 0.29}]
chr3 GH03I186520 186520816 186522185 1.16 [{'connected_gene': 'TRA2B', 'score': 16.36}, {'connected_gene': 'TBCCD1', 'score': 15.05}, {'connected_gene': 'ENSG00000200418', 'score': 14.6}, {'connected_gene': 'RPS20P14', 'score': 12.76}, {'connected_gene': 'SNORA4', 'score': 11.21}, {'connected_gene': 'LINC02052', 'score': 0.31}, {'connected_gene': 'CRYGS', 'score': 0.31}]
chr3 GH03I186540 186540152 186541815 1.05 [{'connected_gene': 'TRA2B', 'score': 10.18}, {'connected_gene': 'EIF4A2', 'score': 9.91}, {'connected_gene': 'ENSG00000200418', 'score': 9.9}, {'connected_gene': 'SNORA63', 'score': 9.9}, {'connected_gene': 'SNORA81', 'score': 9.9}, {'connected_gene': 'RFC4', 'score': 9.9}, {'connected_gene': 'CRYGS', 'score': 0.44}, {'connected_gene': 'LINC02052', 'score': 0.25}]
chr3 GH03I186570 186569530 186571861 2.06 [{'connected_gene': 'TBCCD1', 'score': 591.33}, {'connected_gene': 'DNAJB11', 'score': 550.77}, {'connected_gene': 'TRA2B', 'score': 74.57}, {'connected_gene': 'ENSG00000200418', 'score': 32.15}, {'connected_gene': 'SNORA4', 'score': 27.24}, {'connected_gene': 'SNORA81', 'score': 20.56}, {'connected_gene': 'RFC4', 'score': 11.98}, {'connected_gene': 'RPS20P14', 'score': 10.31}, {'connected_gene': 'SNORA63', 'score': 9.73}, {'connected_gene': 'CRYGS', 'score': 5.07}, {'connected_gene': 'ENSG00000283149', 'score': 0.39}]
chr3 GH03I186501 186501777 186503874 0.43 [{'connected_gene': 'LINC02052', 'score': 0.44}, {'connected_gene': 'CRYGS', 'score': 0.26}]
chr3 GH03I186508 186508916 186510285 0.56 [{'connected_gene': 'LINC02052', 'score': 0.37}, {'connected_gene': 'CRYGS', 'score': 0.28}]
chr3 GH03I186518 186518136 186520287 0.99 [{'connected_gene': 'LINC02052', 'score': 0.31}, {'connected_gene': 'CRYGS', 'score': 0.31}]
chr3 GH03I186514 186514648 186516052 0.8 [{'connected_gene': 'LINC02052', 'score': 0.34}, {'connected_gene': 'CRYGS', 'score': 0.29}]
chr3 GH03I186588 186588296 186591531 1.07 [{'connected_gene': 'AHSG', 'score': 12.3}, {'connected_gene': 'SNORD2', 'score': 10.75}, {'connected_gene': 'EIF4A2', 'score': 10.75}, {'connected_gene': 'ENSG00000200418', 'score': 10.75}, {'connected_gene': 'SNORA63', 'score': 10.75}, {'connected_gene': 'SNORA81', 'score': 10.75}, {'connected_gene': 'RFC4', 'score': 10.4}, {'connected_gene': 'ENSG00000231724', 'score': 10.4}, {'connected_gene': 'FETUB', 'score': 10.38}, {'connected_gene': 'KNG1', 'score': 10.35}, {'connected_gene': 'HRG', 'score': 10.04}, {'connected_gene': 'DNAJB11', 'score': 5.51}, {'connected_gene': 'CRYGS', 'score': 5.07}, {'connected_gene': 'LOC100287402', 'score': 0.44}, {'connected_gene': 'ENSG00000283149', 'score': 0.44}, {'connected_gene': 'LOC105374258', 'score': 0.09}]
chr3 GH03I186544 186544370 186544429 0.76 [{'connected_gene': 'CRYGS', 'score': 550.77}, {'connected_gene': 'LINC02052', 'score': 0.23}]
chr3 GH03I186528 186528648 186529993 0.69 [{'connected_gene': 'CRYGS', 'score': 0.37}, {'connected_gene': 'LINC02052', 'score': 0.28}]