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
ENST00000446982 [[62453802, 62454155], [62462593, 62463260], [62536320, 62536533], [62541852, 62542109], [62546057, 62546146], [62547551, 62547783]] [[62462737, 62463260], [62536320, 62536533], [62541852, 62542109], [62546057, 62546146], [62547551, 62547621]]
ENST00000430451 [[62462540, 62463260], [62536320, 62536533], [62541852, 62542109], [62547551, 62547992], [62550913, 62551103], [62567111, 62568424]] [[62462737, 62463260], [62536320, 62536533], [62541852, 62542109], [62547551, 62547992], [62550913, 62551103], [62567111, 62567425]]
ENST00000555409 [[62462551, 62463260], [62536320, 62536533], [62541852, 62542109], [62546057, 62546146], [62547551, 62547992], [62550913, 62551103], [62567111, 62568431]] [[62462737, 62463260], [62536320, 62536533], [62541852, 62542109], [62546057, 62546146], [62547551, 62547621]]
NM_031914 [[62462540, 62463260], [62536320, 62536533], [62541852, 62542109], [62547551, 62547992], [62550913, 62551103], [62567111, 62568427]] [[62462737, 62463260], [62536320, 62536533], [62541852, 62542109], [62547551, 62547992], [62550913, 62551103], [62567111, 62567425]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I061812 61812400 61812801 0.82 [{'connected_gene': 'SYT16', 'score': 550.77}, {'connected_gene': 'SNAPC1', 'score': 9.7}, {'connected_gene': 'COX4I1P1', 'score': 0.37}, {'connected_gene': 'GC14P061748', 'score': 0.21}]
chr14 GH14I062457 62457038 62457323 0.22 [{'connected_gene': 'SYT16', 'score': 2.9}, {'connected_gene': 'LOC105370528', 'score': 0.28}, {'connected_gene': 'LOC105370529', 'score': 0.15}]
chr14 GH14I062169 62169939 62169947 0.22 [{'connected_gene': 'SYT16', 'score': 4.83}, {'connected_gene': 'LOC100419079', 'score': 0.37}, {'connected_gene': 'GC14P062220', 'score': 0.23}]
chr14 GH14I061965 61964023 61964172 0.2 [{'connected_gene': 'SYT16', 'score': 11.1}, {'connected_gene': 'GC14P061915', 'score': 0.25}, {'connected_gene': 'GC14M061941', 'score': 0.2}]
chr14 GH14I061948 61948543 61948692 0.2 [{'connected_gene': 'SYT16', 'score': 10.92}, {'connected_gene': 'GC14P061915', 'score': 0.29}, {'connected_gene': 'GC14M061941', 'score': 0.18}]
chr14 GH14I061987 61987738 61987760 0.22 [{'connected_gene': 'SYT16', 'score': 2.83}, {'connected_gene': 'GC14M061941', 'score': 0.26}, {'connected_gene': 'GC14P061915', 'score': 0.19}]
chr14 GH14I061964 61964479 61966209 0.59 [{'connected_gene': 'SYT16', 'score': 11.74}, {'connected_gene': 'GC14P061915', 'score': 0.23}, {'connected_gene': 'GC14M061941', 'score': 0.21}]
chr14 GH14I061925 61925234 61928879 0.63 [{'connected_gene': 'SNAPC1', 'score': 4.83}, {'connected_gene': 'GC14P061915', 'score': 0.39}, {'connected_gene': 'GC14M061941', 'score': 0.15}, {'connected_gene': 'SYT16', 'score': 0.13}]
chr14 GH14I061934 61934023 61935449 0.38 [{'connected_gene': 'SNAPC1', 'score': 4.89}, {'connected_gene': 'GC14P061915', 'score': 0.37}, {'connected_gene': 'GC14M061941', 'score': 0.16}, {'connected_gene': 'SYT16', 'score': 0.13}]
chr14 GH14I061860 61860403 61860552 0.56 [{'connected_gene': 'SNAPC1', 'score': 4.66}, {'connected_gene': 'MOCS3P1', 'score': 0.77}, {'connected_gene': 'COX4I1P1', 'score': 0.31}, {'connected_gene': 'SYT16', 'score': 0.25}]
chr14 GH14I061837 61837703 61837872 0.75 [{'connected_gene': 'SNAPC1', 'score': 10.7}, {'connected_gene': 'LINC01303', 'score': 10.41}, {'connected_gene': 'FLJ22447', 'score': 10.41}, {'connected_gene': 'COX4I1P1', 'score': 0.44}, {'connected_gene': 'MOCS3P1', 'score': 0.31}, {'connected_gene': 'SYT16', 'score': 0.31}]
chr14 GH14I061839 61839703 61839852 0.31 [{'connected_gene': 'SNAPC1', 'score': 10.7}, {'connected_gene': 'LINC01303', 'score': 10.41}, {'connected_gene': 'FLJ22447', 'score': 10.41}, {'connected_gene': 'COX4I1P1', 'score': 0.44}, {'connected_gene': 'MOCS3P1', 'score': 0.34}, {'connected_gene': 'SYT16', 'score': 0.31}]
chr14 GH14I062097 62097036 62098884 0.38 [{'connected_gene': 'LINC00643', 'score': 6.65}, {'connected_gene': 'GC14P062110', 'score': 0.39}, {'connected_gene': 'ENSG00000258842', 'score': 0.37}, {'connected_gene': 'SYT16', 'score': 0.06}]
chr14 GH14I062076 62076750 62079139 0.59 [{'connected_gene': 'LINC00643', 'score': 5.47}, {'connected_gene': 'ENSG00000258842', 'score': 0.77}, {'connected_gene': 'GC14M061941', 'score': 0.25}, {'connected_gene': 'SYT16', 'score': 0.06}]
chr14 GH14I061615 61615493 61617101 1.1 [{'connected_gene': 'FLJ22447', 'score': 16.92}, {'connected_gene': 'LINC01303', 'score': 11.42}, {'connected_gene': 'HIF1A', 'score': 11.08}, {'connected_gene': 'SYT16', 'score': 2.23}, {'connected_gene': 'GC14P061590', 'score': 0.31}, {'connected_gene': 'GC14P061694', 'score': 0.18}, {'connected_gene': 'ENSG00000258989', 'score': 0.17}]
chr14 GH14I061872 61872583 61872692 0.69 [{'connected_gene': 'MOCS3P1', 'score': 0.44}, {'connected_gene': 'GC14P061915', 'score': 0.26}, {'connected_gene': 'SYT16', 'score': 0.21}]
chr14 GH14I061867 61867268 61867800 0.69 [{'connected_gene': 'MOCS3P1', 'score': 0.77}, {'connected_gene': 'GC14P061915', 'score': 0.25}, {'connected_gene': 'SYT16', 'score': 0.22}]
chr14 GH14I061580 61580673 61589002 1.53 [{'connected_gene': 'HIF1A', 'score': 14.45}, {'connected_gene': 'SYT16', 'score': 1.88}, {'connected_gene': 'GC14P061590', 'score': 0.44}, {'connected_gene': 'LINC01303', 'score': 0.39}, {'connected_gene': 'FLJ22447', 'score': 0.39}, {'connected_gene': 'ENSG00000258989', 'score': 0.22}]
chr14 GH14I061510 61510001 61518432 1.62 [{'connected_gene': 'HIF1A', 'score': 15.32}, {'connected_gene': 'LINC01303', 'score': 10.73}, {'connected_gene': 'FLJ22447', 'score': 10.73}, {'connected_gene': 'PRKCH', 'score': 2.37}, {'connected_gene': 'SYT16', 'score': 1.35}, {'connected_gene': 'ENSG00000258989', 'score': 0.39}, {'connected_gene': 'GC14M061347', 'score': 0.29}]
chr14 GH14I061831 61831732 61831927 0.27 [{'connected_gene': 'COX4I1P1', 'score': 550.77}, {'connected_gene': 'SNAPC1', 'score': 10.99}, {'connected_gene': 'SYT16', 'score': 0.37}]
chr14 GH14I062116 62116980 62118000 0.92 [{'connected_gene': 'LOC105370527', 'score': 550.77}, {'connected_gene': 'LINC00643', 'score': 0.77}, {'connected_gene': 'LINC00644', 'score': 0.34}, {'connected_gene': 'SYT16', 'score': 0.06}]
chr14 GH14I061622 61622397 61622406 0.22 [{'connected_gene': 'LINC01303', 'score': 11.02}, {'connected_gene': 'FLJ22447', 'score': 11.02}, {'connected_gene': 'SYT16', 'score': 3.06}, {'connected_gene': 'GC14P061590', 'score': 0.29}, {'connected_gene': 'GC14P061694', 'score': 0.19}, {'connected_gene': 'ENSG00000258989', 'score': 0.16}]
chr14 GH14I061648 61648730 61648835 0.39 [{'connected_gene': 'LINC01303', 'score': 11.36}, {'connected_gene': 'FLJ22447', 'score': 11.36}, {'connected_gene': 'HIF1A', 'score': 11.34}, {'connected_gene': 'SNAPC1', 'score': 10.46}, {'connected_gene': 'SYT16', 'score': 1.84}, {'connected_gene': 'PRKCH', 'score': 1.39}, {'connected_gene': 'GC14P061694', 'score': 0.25}, {'connected_gene': 'GC14P061590', 'score': 0.22}, {'connected_gene': 'ENSG00000258989', 'score': 0.13}]
chr14 GH14I061940 61940303 61941425 0.38 [{'connected_gene': 'GC14P061915', 'score': 0.31}, {'connected_gene': 'GC14M061941', 'score': 0.17}, {'connected_gene': 'SYT16', 'score': 0.13}]
chr14 GH14I062006 62006483 62006612 0.2 [{'connected_gene': 'GC14M061941', 'score': 0.34}, {'connected_gene': 'GC14P061915', 'score': 0.16}, {'connected_gene': 'SYT16', 'score': 0.08}]
chr14 GH14I061930 61930252 61931115 0.38 [{'connected_gene': 'GC14P061915', 'score': 0.37}, {'connected_gene': 'GC14M061941', 'score': 0.15}, {'connected_gene': 'SYT16', 'score': 0.13}]
chr14 GH14I061973 61973676 61974992 0.31 [{'connected_gene': 'GC14M061941', 'score': 0.23}, {'connected_gene': 'GC14P061915', 'score': 0.22}, {'connected_gene': 'SYT16', 'score': 0.1}]
chr14 GH14I062080 62080587 62081892 0.74 [{'connected_gene': 'ENSG00000258842', 'score': 550.77}, {'connected_gene': 'GC14P062110', 'score': 0.31}, {'connected_gene': 'SYT16', 'score': 0.06}]
chr14 GH14I061926 61925083 61925232 0.38 [{'connected_gene': 'GC14P061915', 'score': 0.39}, {'connected_gene': 'GC14M061941', 'score': 0.15}, {'connected_gene': 'SYT16', 'score': 0.14}]
chr14 GH14I061941 61941543 61941692 0.2 [{'connected_gene': 'GC14P061915', 'score': 0.31}, {'connected_gene': 'GC14M061941', 'score': 0.17}, {'connected_gene': 'SYT16', 'score': 0.13}]
chr14 GH14I062056 62056202 62056999 0.2 [{'connected_gene': 'ENSG00000258842', 'score': 0.34}, {'connected_gene': 'GC14M061941', 'score': 0.31}, {'connected_gene': 'SYT16', 'score': 0.07}]
chr14 GH14I061894 61894603 61894712 0.57 [{'connected_gene': 'GC14P061915', 'score': 0.34}, {'connected_gene': 'MOCS3P1', 'score': 0.29}, {'connected_gene': 'SYT16', 'score': 0.18}]
chr14 GH14I061889 61889361 61890558 0.82 [{'connected_gene': 'GC14P061915', 'score': 0.31}, {'connected_gene': 'MOCS3P1', 'score': 0.31}, {'connected_gene': 'SYT16', 'score': 0.18}]