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
ENST00000440575 [[108366034, 108366044], [108370456, 108370622], [108372234, 108372402], [108375693, 108375791], [108385388, 108385503], [108486770, 108486908], [108487015, 108487044]] [[108366034, 108366044], [108370456, 108370622], [108372234, 108372402], [108375693, 108375791], [108385388, 108385464]]
ENST00000193322 [[108362612, 108366044], [108370456, 108370622], [108372234, 108372402], [108375693, 108375791], [108385388, 108385503], [108395453, 108395941]] [[108365988, 108366044], [108370456, 108370622], [108372234, 108372402], [108375693, 108375791], [108385388, 108385503], [108395453, 108395855]]
ENST00000492130 [[108362675, 108363468], [108363770, 108365442]] None
ENST00000472669 [[108365582, 108366044], [108370456, 108370622], [108370735, 108370787], [108372234, 108372270]] None
ENST00000477774 [[108365936, 108366044], [108370456, 108370622], [108370735, 108370872]] None
ENST00000467960 [[108385388, 108385503], [108394845, 108395002], [108395453, 108395945]] None
ENST00000492070 [[108443539, 108443918], [108486770, 108486908], [108487015, 108487058]] None
NM_014028 [[108362612, 108366044], [108370456, 108370622], [108372234, 108372402], [108375693, 108375791], [108385388, 108385503], [108395453, 108395941]] [[108365988, 108366044], [108370456, 108370622], [108372234, 108372402], [108375693, 108375791], [108385388, 108385503], [108395453, 108395855]]
Promoter
Chrom Start End Description
chr6 108395891 108395902 CAGE_peak_2_at_OSTM1_5end
chr6 108395907 108395971 CAGE_peak_1_at_OSTM1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I108310 108310621 108311871 0.31 [{'connected_gene': 'SNX3', 'score': 10.87}, {'connected_gene': 'OSTM1', 'score': 9.86}, {'connected_gene': 'NR2E1', 'score': 9.85}, {'connected_gene': 'AFG1L', 'score': 5.68}, {'connected_gene': 'RPL36AP24', 'score': 0.44}]
chr6 GH06I108301 108301175 108303498 0.4 [{'connected_gene': 'SNX3', 'score': 12.41}, {'connected_gene': 'OSTM1', 'score': 10.39}, {'connected_gene': 'NR2E1', 'score': 10.38}, {'connected_gene': 'SEC63', 'score': 9.25}, {'connected_gene': 'AFG1L', 'score': 5.21}, {'connected_gene': 'RPL36AP24', 'score': 0.37}]
chr6 GH06I108476 108476641 108477190 0.4 [{'connected_gene': 'SNX3', 'score': 10.2}, {'connected_gene': 'OSTM1', 'score': 9.81}, {'connected_gene': 'NR2E1', 'score': 9.81}, {'connected_gene': 'SEC63', 'score': 9.43}, {'connected_gene': 'GC06P108423', 'score': 0.23}, {'connected_gene': 'GC06P108424', 'score': 0.23}, {'connected_gene': 'ENSG00000271608', 'score': 0.19}, {'connected_gene': 'AFG1L', 'score': 0.09}]
chr6 GH06I108360 108360722 108362262 0.9 [{'connected_gene': 'SNX3', 'score': 10.95}, {'connected_gene': 'OSTM1', 'score': 10.48}, {'connected_gene': 'NR2E1', 'score': 10.48}, {'connected_gene': 'LOC100506224', 'score': 0.39}, {'connected_gene': 'ENSG00000238055', 'score': 0.26}, {'connected_gene': 'LOC105377932', 'score': 0.25}, {'connected_gene': 'AFG1L', 'score': 0.2}]
chr6 GH06I108311 108311901 108313918 0.8 [{'connected_gene': 'SNX3', 'score': 10.85}, {'connected_gene': 'OSTM1', 'score': 9.93}, {'connected_gene': 'NR2E1', 'score': 9.93}, {'connected_gene': 'RPL36AP24', 'score': 0.44}, {'connected_gene': 'AFG1L', 'score': 0.37}]
chr6 GH06I108541 108541801 108542469 1.26 [{'connected_gene': 'ARMC2', 'score': 10.83}, {'connected_gene': 'RNU6-653P', 'score': 10.32}, {'connected_gene': 'ARMC2-AS1', 'score': 9.6}, {'connected_gene': 'SEC63', 'score': 9.57}, {'connected_gene': 'OSTM1', 'score': 9.46}, {'connected_gene': 'NR2E1', 'score': 9.46}, {'connected_gene': 'ENSG00000271608', 'score': 0.44}, {'connected_gene': 'GC06P108423', 'score': 0.13}, {'connected_gene': 'GC06P108424', 'score': 0.13}]
chr6 GH06I108117 108117466 108119081 0.96 [{'connected_gene': 'NR2E1', 'score': 12.58}, {'connected_gene': 'OSTM1', 'score': 12.55}, {'connected_gene': 'SEC63', 'score': 9.48}, {'connected_gene': 'OSTM1-AS1', 'score': 0.44}, {'connected_gene': 'ENSG00000238490', 'score': 0.22}]
chr6 GH06I108133 108133393 108134876 1.12 [{'connected_gene': 'NR2E1', 'score': 12.62}, {'connected_gene': 'OSTM1', 'score': 12.57}, {'connected_gene': 'SEC63', 'score': 9.83}, {'connected_gene': 'GC06M108139', 'score': 0.44}, {'connected_gene': 'OSTM1-AS1', 'score': 0.39}]
chr6 GH06I108113 108113500 108117248 1.4 [{'connected_gene': 'NR2E1', 'score': 11.68}, {'connected_gene': 'OSTM1', 'score': 11.65}, {'connected_gene': 'OSTM1-AS1', 'score': 0.44}, {'connected_gene': 'ENSG00000238490', 'score': 0.23}]
chr6 GH06I108106 108106377 108106442 0.31 [{'connected_gene': 'NR2E1', 'score': 11.46}, {'connected_gene': 'OSTM1', 'score': 11.45}, {'connected_gene': 'OSTM1-AS1', 'score': 0.37}, {'connected_gene': 'ENSG00000238490', 'score': 0.25}]
chr6 GH06I108127 108127937 108128106 0.92 [{'connected_gene': 'NR2E1', 'score': 12.61}, {'connected_gene': 'OSTM1', 'score': 12.59}, {'connected_gene': 'OSTM1-AS1', 'score': 0.77}, {'connected_gene': 'GC06M108139', 'score': 0.37}]
chr6 GH06I108203 108203060 108203853 0.59 [{'connected_gene': 'OSTM1', 'score': 11.91}, {'connected_gene': 'NR2E1', 'score': 11.88}, {'connected_gene': 'SNX3', 'score': 11.57}, {'connected_gene': 'ENSG00000279398', 'score': 0.34}, {'connected_gene': 'ENSG00000233511', 'score': 0.25}]
chr6 GH06I108348 108348216 108352281 0.95 [{'connected_gene': 'OSTM1', 'score': 10.25}, {'connected_gene': 'NR2E1', 'score': 10.25}, {'connected_gene': 'LOC100506224', 'score': 0.34}, {'connected_gene': 'ENSG00000238055', 'score': 0.29}, {'connected_gene': 'AFG1L', 'score': 0.22}]
chr6 GH06I108167 108167457 108167486 0.31 [{'connected_gene': 'OSTM1', 'score': 550.77}, {'connected_gene': 'NR2E1', 'score': 0.44}, {'connected_gene': 'ENSG00000279398', 'score': 0.39}]
chr6 GH06I108166 108166042 108166101 1.04 [{'connected_gene': 'OSTM1', 'score': 550.77}, {'connected_gene': 'NR2E1', 'score': 550.44}, {'connected_gene': 'ENSG00000279398', 'score': 0.39}]
chr6 GH06I108071 108071330 108072403 0.38 [{'connected_gene': 'OSTM1', 'score': 12.18}, {'connected_gene': 'ENSG00000238490', 'score': 0.39}, {'connected_gene': 'OSTM1-AS1', 'score': 0.23}]
chr6 GH06I108073 108073243 108075940 2.03 [{'connected_gene': 'OSTM1', 'score': 562.78}, {'connected_gene': 'ENSG00000238490', 'score': 0.39}, {'connected_gene': 'OSTM1-AS1', 'score': 0.25}]
chr6 GH06I108555 108555734 108567589 2.7 [{'connected_gene': 'FOXO3', 'score': 565.18}, {'connected_gene': 'PIR59886', 'score': 550.77}, {'connected_gene': 'ZBTB24', 'score': 54.91}, {'connected_gene': 'SMPD2', 'score': 20.13}, {'connected_gene': 'CD164', 'score': 11.11}, {'connected_gene': 'RNU6-653P', 'score': 10.69}, {'connected_gene': 'ENSG00000271730', 'score': 10.2}, {'connected_gene': 'SEC63', 'score': 9.89}, {'connected_gene': 'LINC00222', 'score': 5.03}, {'connected_gene': 'SESN1', 'score': 4.0}, {'connected_gene': 'OSTM1', 'score': 1.13}, {'connected_gene': 'GC06M108618', 'score': 0.22}]
chr6 GH06I108545 108545703 108547764 0.43 [{'connected_gene': 'RNU6-653P', 'score': 10.54}, {'connected_gene': 'NR2E1', 'score': 9.53}, {'connected_gene': 'OSTM1', 'score': 9.53}, {'connected_gene': 'SEC63', 'score': 9.26}, {'connected_gene': 'ENSG00000271608', 'score': 0.77}, {'connected_gene': 'GC06P108423', 'score': 0.13}, {'connected_gene': 'GC06P108424', 'score': 0.13}]
chr6 GH06I108544 108544643 108545385 0.2 [{'connected_gene': 'RNU6-653P', 'score': 10.54}, {'connected_gene': 'NR2E1', 'score': 9.53}, {'connected_gene': 'OSTM1', 'score': 9.53}, {'connected_gene': 'ENSG00000271608', 'score': 0.44}, {'connected_gene': 'GC06P108423', 'score': 0.13}, {'connected_gene': 'GC06P108424', 'score': 0.13}]
chr6 GH06I107696 107696908 107700541 0.86 [{'connected_gene': 'ENSG00000280135', 'score': 550.77}, {'connected_gene': 'SCML4', 'score': 6.93}, {'connected_gene': 'OSTM1', 'score': 4.21}, {'connected_gene': 'PIR51849', 'score': 0.28}]
chr6 GH06I108009 108009673 108010590 0.31 [{'connected_gene': 'PIR60649', 'score': 550.77}, {'connected_gene': 'SEC63', 'score': 11.0}, {'connected_gene': 'NR2E1', 'score': 10.2}, {'connected_gene': 'OSTM1', 'score': 10.19}, {'connected_gene': 'LOC105377929', 'score': 5.3}, {'connected_gene': 'GC06P108038', 'score': 0.31}]
chr6 GH06I108080 108080186 108080889 0.54 [{'connected_gene': 'ENSG00000238490', 'score': 0.37}, {'connected_gene': 'OSTM1-AS1', 'score': 0.26}, {'connected_gene': 'OSTM1', 'score': 0.17}]
chr6 GH06I108072 108072718 108072946 0.2 [{'connected_gene': 'ENSG00000238490', 'score': 0.39}, {'connected_gene': 'OSTM1-AS1', 'score': 0.23}, {'connected_gene': 'OSTM1', 'score': 0.16}]