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
ENST00000288502 [[117373485, 117373844], [117379397, 117379581], [117386629, 117386739], [117389178, 117389286], [117390380, 117390530], [117396047, 117396158], [117399269, 117399350], [117400823, 117401006], [117405413, 117406441]] [[117379475, 117379581], [117386629, 117386739], [117389178, 117389286], [117390380, 117390530], [117396047, 117396158], [117399269, 117399350], [117400823, 117401006], [117405413, 117405593]]
ENST00000374049 [[117373485, 117373844], [117379397, 117379581], [117386629, 117386739], [117389175, 117389286], [117390380, 117390530], [117396047, 117396158], [117399269, 117399350], [117400823, 117401006], [117405413, 117408702]] [[117379475, 117379581], [117386629, 117386739], [117389175, 117389286], [117390380, 117390530], [117396047, 117396158], [117399269, 117399350], [117400823, 117401006], [117405413, 117405593]]
ENST00000471206 [[117373737, 117373844], [117379397, 117379581], [117386415, 117386739], [117389178, 117389286], [117390380, 117390505]] None
ENST00000482552 [[117405546, 117405679], [117406346, 117406984]] None
NM_001330760 [[117373599, 117373844], [117379397, 117379581], [117386629, 117386739], [117389175, 117389286], [117390380, 117390530], [117396047, 117396158], [117399269, 117399350], [117400823, 117401006], [117405413, 117408704]] [[117379475, 117379581], [117386629, 117386739], [117389175, 117389286], [117390380, 117390530], [117396047, 117396158], [117399269, 117399350], [117400823, 117401006], [117405413, 117405593]]
NM_153045 [[117373705, 117373844], [117379397, 117379581], [117386629, 117386739], [117389178, 117389286], [117390380, 117390530], [117396047, 117396158], [117399269, 117399350], [117400823, 117401006], [117405413, 117408703]] [[117379475, 117379581], [117386629, 117386739], [117389178, 117389286], [117390380, 117390530], [117396047, 117396158], [117399269, 117399350], [117400823, 117401006], [117405413, 117405593]]
Promoter
Chrom Start End Description
chr9 117373544 117373645 CAGE_peak_1_at_C9orf91_5end
chr9 117373695 117373752 CAGE_peak_2_at_C9orf91_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I114724 114724041 114724210 0.31 [{'connected_gene': 'TNFSF15', 'score': 10.95}, {'connected_gene': 'TNFSF8', 'score': 10.71}, {'connected_gene': 'ENSG00000201749', 'score': 10.48}, {'connected_gene': 'TMEM268', 'score': 10.47}, {'connected_gene': 'LOC105376231', 'score': 0.31}, {'connected_gene': 'ENSG00000274919', 'score': 0.23}]
chr9 GH09I114413 114413446 114415547 0.83 [{'connected_gene': 'TNFSF15', 'score': 24.84}, {'connected_gene': 'WHRN', 'score': 24.66}, {'connected_gene': 'TMEM268', 'score': 10.97}, {'connected_gene': 'ENSG00000201749', 'score': 10.97}, {'connected_gene': 'AKNA', 'score': 10.01}, {'connected_gene': 'ATP6V1G1', 'score': 4.15}, {'connected_gene': 'LOC100131877', 'score': 0.18}]
chr9 GH09I114586 114586628 114593867 2.51 [{'connected_gene': 'ATP6V1G1', 'score': 551.87}, {'connected_gene': 'WHRN', 'score': 44.41}, {'connected_gene': 'ZNF618', 'score': 13.24}, {'connected_gene': 'ENSG00000201749', 'score': 12.96}, {'connected_gene': 'COL27A1', 'score': 10.64}, {'connected_gene': 'TMEM268', 'score': 4.71}, {'connected_gene': 'TNFSF8', 'score': 1.77}, {'connected_gene': 'AKNA', 'score': 1.16}, {'connected_gene': 'PIR33481', 'score': 0.44}, {'connected_gene': 'GC09P114599', 'score': 0.44}]
chr9 GH09I115016 115016376 115016682 0.58 [{'connected_gene': 'TNFSF8', 'score': 23.03}, {'connected_gene': 'TNFSF15', 'score': 18.89}, {'connected_gene': 'ENSG00000201749', 'score': 9.95}, {'connected_gene': 'TMEM268', 'score': 9.95}, {'connected_gene': 'ATP6V1G1', 'score': 3.14}, {'connected_gene': 'GC09M115052', 'score': 0.28}]
chr9 GH09I115012 115012209 115012551 0.22 [{'connected_gene': 'TNFSF8', 'score': 15.47}, {'connected_gene': 'TNFSF15', 'score': 12.35}, {'connected_gene': 'ENSG00000201749', 'score': 9.95}, {'connected_gene': 'TMEM268', 'score': 9.95}, {'connected_gene': 'ATP6V1G1', 'score': 1.43}, {'connected_gene': 'GC09M115052', 'score': 0.26}]
chr9 GH09I115017 115017964 115019965 0.69 [{'connected_gene': 'TNFSF8', 'score': 10.59}, {'connected_gene': 'TNFSF15', 'score': 10.34}, {'connected_gene': 'ENSG00000201749', 'score': 9.95}, {'connected_gene': 'TMEM268', 'score': 9.95}, {'connected_gene': 'GC09M115052', 'score': 0.29}, {'connected_gene': 'TNC', 'score': 0.15}]
chr9 GH09I115014 115014102 115014271 0.6 [{'connected_gene': 'TNFSF8', 'score': 10.6}, {'connected_gene': 'TNFSF15', 'score': 10.34}, {'connected_gene': 'ENSG00000201749', 'score': 9.95}, {'connected_gene': 'TMEM268', 'score': 9.95}, {'connected_gene': 'GC09M115052', 'score': 0.28}]
chr9 GH09I114360 114360857 114391414 2.75 [{'connected_gene': 'AKNA', 'score': 576.12}, {'connected_gene': 'WHRN', 'score': 27.79}, {'connected_gene': 'TMEM268', 'score': 11.11}, {'connected_gene': 'ENSG00000201749', 'score': 11.11}, {'connected_gene': 'ORM1', 'score': 5.94}, {'connected_gene': 'ORM2', 'score': 1.46}, {'connected_gene': 'ATP6V1G1', 'score': 1.42}, {'connected_gene': 'ENSG00000235119', 'score': 0.34}]
chr9 GH09I114355 114355559 114359085 0.52 [{'connected_gene': 'AKNA', 'score': 10.39}, {'connected_gene': 'ENSG00000201749', 'score': 10.32}, {'connected_gene': 'TMEM268', 'score': 10.31}, {'connected_gene': 'ORM2', 'score': 0.31}, {'connected_gene': 'ENSG00000235119', 'score': 0.26}]
chr9 GH09I113657 113657801 113658401 1.03 [{'connected_gene': 'RGS3', 'score': 11.14}, {'connected_gene': 'ALAD', 'score': 10.86}, {'connected_gene': 'RNF183', 'score': 10.43}, {'connected_gene': 'TMEM268', 'score': 5.65}, {'connected_gene': 'KIF12', 'score': 4.93}, {'connected_gene': 'LOC105376223', 'score': 0.39}, {'connected_gene': 'LOC100288542', 'score': 0.15}]
chr9 GH09I114348 114348078 114350551 1.3 [{'connected_gene': 'WHRN', 'score': 10.69}, {'connected_gene': 'COL27A1', 'score': 10.04}, {'connected_gene': 'TMEM268', 'score': 9.99}, {'connected_gene': 'ENSG00000201749', 'score': 9.99}, {'connected_gene': 'AKNA', 'score': 6.28}, {'connected_gene': 'ORM2', 'score': 0.37}, {'connected_gene': 'ENSG00000235119', 'score': 0.25}]
chr9 GH09I114345 114345137 114347540 0.43 [{'connected_gene': 'WHRN', 'score': 10.69}, {'connected_gene': 'COL27A1', 'score': 10.04}, {'connected_gene': 'TMEM268', 'score': 9.99}, {'connected_gene': 'ENSG00000201749', 'score': 9.99}, {'connected_gene': 'ORM2', 'score': 0.37}, {'connected_gene': 'ENSG00000235119', 'score': 0.23}, {'connected_gene': 'AKNA', 'score': 0.23}]
chr9 GH09I114415 114415973 114417070 0.58 [{'connected_gene': 'WHRN', 'score': 17.71}, {'connected_gene': 'TMEM268', 'score': 10.97}, {'connected_gene': 'ENSG00000201749', 'score': 10.97}, {'connected_gene': 'AKNA', 'score': 0.37}, {'connected_gene': 'LOC100131877', 'score': 0.19}]
chr9 GH09I114420 114420872 114421905 0.2 [{'connected_gene': 'WHRN', 'score': 18.08}, {'connected_gene': 'TMEM268', 'score': 10.57}, {'connected_gene': 'ENSG00000201749', 'score': 10.57}, {'connected_gene': 'AKNA', 'score': 0.34}, {'connected_gene': 'LOC100131877', 'score': 0.19}]
chr9 GH09I114442 114442392 114442885 0.2 [{'connected_gene': 'WHRN', 'score': 11.61}, {'connected_gene': 'TMEM268', 'score': 10.0}, {'connected_gene': 'ENSG00000201749', 'score': 10.0}, {'connected_gene': 'AKNA', 'score': 0.26}, {'connected_gene': 'LOC100131877', 'score': 0.25}]
chr9 GH09I114607 114606441 114607420 1.02 [{'connected_gene': 'WHRN', 'score': 19.82}, {'connected_gene': 'TMEM268', 'score': 5.09}, {'connected_gene': 'TEX53', 'score': 4.77}, {'connected_gene': 'GC09P114613', 'score': 0.44}]
chr9 GH09I114615 114615513 114620091 1.26 [{'connected_gene': 'WHRN', 'score': 11.86}, {'connected_gene': 'TMEM268', 'score': 5.08}, {'connected_gene': 'GC09M114616', 'score': 0.77}, {'connected_gene': 'ENSG00000201749', 'score': 0.77}, {'connected_gene': 'TEX53', 'score': 0.26}]
chr9 GH09I114622 114622072 114622504 0.74 [{'connected_gene': 'WHRN', 'score': 9.8}, {'connected_gene': 'GC09M114616', 'score': 0.44}, {'connected_gene': 'ENSG00000201749', 'score': 0.44}, {'connected_gene': 'TMEM268', 'score': 0.37}, {'connected_gene': 'TEX53', 'score': 0.26}]
chr9 GH09I114538 114538361 114538510 0.64 [{'connected_gene': 'WHRN', 'score': 11.43}, {'connected_gene': 'TMEM268', 'score': 10.47}, {'connected_gene': 'ENSG00000201749', 'score': 10.45}, {'connected_gene': 'LOC105376229', 'score': 0.31}]
chr9 GH09I114487 114487221 114488073 1.17 [{'connected_gene': 'WHRN', 'score': 12.54}, {'connected_gene': 'ENSG00000201749', 'score': 11.13}, {'connected_gene': 'TMEM268', 'score': 11.13}, {'connected_gene': 'LOC100131877', 'score': 0.77}, {'connected_gene': 'AKNA', 'score': 0.17}]
chr9 GH09I114478 114478207 114479437 0.43 [{'connected_gene': 'WHRN', 'score': 12.46}, {'connected_gene': 'TMEM268', 'score': 11.07}, {'connected_gene': 'ENSG00000201749', 'score': 11.06}, {'connected_gene': 'LOC100131877', 'score': 0.39}, {'connected_gene': 'AKNA', 'score': 0.18}]
chr9 GH09I114474 114474339 114475553 0.31 [{'connected_gene': 'WHRN', 'score': 24.51}, {'connected_gene': 'TMEM268', 'score': 11.07}, {'connected_gene': 'ENSG00000201749', 'score': 11.05}, {'connected_gene': 'LOC100131877', 'score': 0.37}, {'connected_gene': 'AKNA', 'score': 0.18}]
chr9 GH09I114480 114480287 114481789 0.63 [{'connected_gene': 'WHRN', 'score': 20.16}, {'connected_gene': 'TMEM268', 'score': 11.07}, {'connected_gene': 'ENSG00000201749', 'score': 11.06}, {'connected_gene': 'LOC100131877', 'score': 0.39}, {'connected_gene': 'AKNA', 'score': 0.18}]
chr9 GH09I114472 114472861 114473010 0.51 [{'connected_gene': 'WHRN', 'score': 12.45}, {'connected_gene': 'TMEM268', 'score': 11.06}, {'connected_gene': 'ENSG00000201749', 'score': 11.05}, {'connected_gene': 'LOC100131877', 'score': 0.37}, {'connected_gene': 'AKNA', 'score': 0.19}]
chr9 GH09I114477 114477181 114477330 0.4 [{'connected_gene': 'WHRN', 'score': 12.46}, {'connected_gene': 'TMEM268', 'score': 11.07}, {'connected_gene': 'ENSG00000201749', 'score': 11.06}, {'connected_gene': 'LOC100131877', 'score': 0.39}, {'connected_gene': 'AKNA', 'score': 0.18}]
chr9 GH09I114606 114606181 114606330 0.63 [{'connected_gene': 'WHRN', 'score': 10.68}, {'connected_gene': 'TMEM268', 'score': 0.77}, {'connected_gene': 'GC09P114613', 'score': 0.44}]
chr9 GH09I114524 114524152 114525074 0.2 [{'connected_gene': 'TMEM268', 'score': 10.55}, {'connected_gene': 'ENSG00000201749', 'score': 10.52}, {'connected_gene': 'WHRN', 'score': 0.37}, {'connected_gene': 'LOC105376229', 'score': 0.26}]
chr9 GH09I114518 114518413 114519047 0.57 [{'connected_gene': 'TMEM268', 'score': 10.66}, {'connected_gene': 'ENSG00000201749', 'score': 10.64}, {'connected_gene': 'WHRN', 'score': 0.39}, {'connected_gene': 'LOC105376229', 'score': 0.25}]
chr9 GH09I114515 114515630 114515861 0.2 [{'connected_gene': 'TMEM268', 'score': 10.33}, {'connected_gene': 'ENSG00000201749', 'score': 10.31}, {'connected_gene': 'WHRN', 'score': 0.39}, {'connected_gene': 'LOC105376229', 'score': 0.23}]
chr9 GH09I114512 114512561 114512710 0.38 [{'connected_gene': 'TMEM268', 'score': 10.29}, {'connected_gene': 'ENSG00000201749', 'score': 10.27}, {'connected_gene': 'WHRN', 'score': 0.44}, {'connected_gene': 'LOC105376229', 'score': 0.23}]
chr9 GH09I114500 114499547 114499650 0.63 [{'connected_gene': 'TMEM268', 'score': 10.96}, {'connected_gene': 'ENSG00000201749', 'score': 10.94}, {'connected_gene': 'WHRN', 'score': 0.44}, {'connected_gene': 'LOC105376228', 'score': 0.44}]
chr9 GH09I114498 114498193 114498947 0.46 [{'connected_gene': 'TMEM268', 'score': 10.96}, {'connected_gene': 'ENSG00000201749', 'score': 10.94}, {'connected_gene': 'WHRN', 'score': 6.18}, {'connected_gene': 'LOC105376228', 'score': 0.44}]
chr9 GH09I114601 114601883 114603669 0.56 [{'connected_gene': 'TMEM268', 'score': 550.77}, {'connected_gene': 'WHRN', 'score': 18.23}, {'connected_gene': 'PIR33481', 'score': 0.77}, {'connected_gene': 'GC09P114599', 'score': 0.77}]
chr9 GH09I114610 114610338 114614882 2.26 [{'connected_gene': 'TMEM268', 'score': 555.18}, {'connected_gene': 'GC09P114613', 'score': 550.77}, {'connected_gene': 'WHRN', 'score': 18.18}, {'connected_gene': 'GC09M114616', 'score': 0.77}, {'connected_gene': 'ENSG00000201749', 'score': 0.77}]
chr9 GH09I114604 114604857 114605591 0.38 [{'connected_gene': 'TMEM268', 'score': 550.77}, {'connected_gene': 'WHRN', 'score': 37.44}, {'connected_gene': 'GC09P114613', 'score': 0.44}]
chr9 GH09I114662 114662221 114662390 0.67 [{'connected_gene': 'TEX53', 'score': 550.77}, {'connected_gene': 'ENSG00000201749', 'score': 11.47}, {'connected_gene': 'TMEM268', 'score': 11.45}, {'connected_gene': 'WHRN', 'score': 10.9}, {'connected_gene': 'GC09M114616', 'score': 0.25}]
chr9 GH09I114493 114493391 114494401 1.02 [{'connected_gene': 'LOC105376228', 'score': 550.77}, {'connected_gene': 'TMEM268', 'score': 10.95}, {'connected_gene': 'ENSG00000201749', 'score': 10.94}, {'connected_gene': 'WHRN', 'score': 0.39}]
chr9 GH09I114494 114494412 114495555 0.52 [{'connected_gene': 'LOC105376228', 'score': 550.77}, {'connected_gene': 'TMEM268', 'score': 10.96}, {'connected_gene': 'ENSG00000201749', 'score': 10.94}, {'connected_gene': 'WHRN', 'score': 6.55}]
chr9 GH09I114597 114597898 114599084 0.43 [{'connected_gene': 'PIR33481', 'score': 550.77}, {'connected_gene': 'GC09P114599', 'score': 550.77}, {'connected_gene': 'WHRN', 'score': 13.51}, {'connected_gene': 'TMEM268', 'score': 0.44}, {'connected_gene': 'ATP6V1G1', 'score': 0.39}]
chr9 GH09I114359 114359248 114360087 0.2 [{'connected_gene': 'ENSG00000201749', 'score': 10.32}, {'connected_gene': 'TMEM268', 'score': 10.32}, {'connected_gene': 'AKNA', 'score': 10.11}, {'connected_gene': 'WHRN', 'score': 8.14}, {'connected_gene': 'ORM2', 'score': 0.31}, {'connected_gene': 'ENSG00000235119', 'score': 0.28}]

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