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
ENST00000586448 [[42792959, 42793156], [43063197, 43063287], [43204595, 43204779], [43205647, 43205828], [43206922, 43207112], [43212314, 43212443], [43216954, 43217147], [43219710, 43219858], [43221173, 43221308], [43223096, 43223146], [43223950, 43224125], [43243749, 43243872], [43246101, 43246184], [43246899, 43247059], [43247797, 43247987], [43248313, 43248442], [43249270, 43249463], [43252864, 43253012], [43253647, 43253782], [43258939, 43258989], [43262283, 43262940]] [[43204629, 43204779], [43205647, 43205828], [43206922, 43207112], [43212314, 43212443], [43216954, 43217147], [43219710, 43219858], [43221173, 43221308], [43223096, 43223146], [43223950, 43224125], [43243749, 43243872], [43246101, 43246184], [43246899, 43247059], [43247797, 43247987], [43248313, 43248442], [43249270, 43249463], [43252864, 43253012], [43253647, 43253782], [43258939, 43258989], [43262283, 43262484]]
ENST00000255226 [[43194765, 43195547], [43204595, 43204779], [43205647, 43205828], [43206922, 43207112], [43212314, 43212443], [43216954, 43217147], [43219710, 43219858], [43221173, 43221308], [43223096, 43223146], [43223950, 43224125], [43243749, 43243872], [43246101, 43246184], [43246899, 43247059], [43247797, 43247987], [43248313, 43248442], [43249270, 43249463], [43252864, 43253012], [43253647, 43253782], [43258939, 43258989], [43262283, 43263072]] [[43204629, 43204779], [43205647, 43205828], [43206922, 43207112], [43212314, 43212443], [43216954, 43217147], [43219710, 43219858], [43221173, 43221308], [43223096, 43223146], [43223950, 43224125], [43243749, 43243872], [43246101, 43246184], [43246899, 43247059], [43247797, 43247987], [43248313, 43248442], [43249270, 43249463], [43252864, 43253012], [43253647, 43253782], [43258939, 43258989], [43262283, 43262484]]
ENST00000589658 [[43246106, 43246184], [43246899, 43247059], [43247797, 43247987], [43248313, 43248442], [43249270, 43249463], [43252864, 43253012], [43253647, 43253782], [43258939, 43258989], [43262283, 43263058]] [[43246911, 43247059], [43247797, 43247987], [43248313, 43248442], [43249270, 43249463], [43252864, 43253012], [43253647, 43253782], [43258939, 43258989], [43262283, 43262484]]
ENST00000323329 [[43195445, 43195511], [43204595, 43204779], [43205647, 43205828], [43206922, 43207112], [43212314, 43212443], [43214786, 43214914], [43217052, 43217147], [43219710, 43219858], [43221173, 43221308], [43223096, 43223146], [43223950, 43224373]] [[43204629, 43204779], [43205647, 43205828], [43206922, 43207112], [43212314, 43212443], [43214786, 43214844]]
NM_001242692 [[42792946, 42793156], [43063197, 43063287], [43204595, 43204779], [43205647, 43205828], [43206922, 43207112], [43212314, 43212443], [43216954, 43217147], [43219710, 43219858], [43221173, 43221308], [43223096, 43223146], [43223950, 43224125], [43243749, 43243872], [43246101, 43246184], [43246899, 43247059], [43247797, 43247987], [43248313, 43248442], [43249270, 43249463], [43252864, 43253012], [43253647, 43253782], [43258939, 43258989], [43262283, 43263072]] [[43204629, 43204779], [43205647, 43205828], [43206922, 43207112], [43212314, 43212443], [43216954, 43217147], [43219710, 43219858], [43221173, 43221308], [43223096, 43223146], [43223950, 43224125], [43243749, 43243872], [43246101, 43246184], [43246899, 43247059], [43247797, 43247987], [43248313, 43248442], [43249270, 43249463], [43252864, 43253012], [43253647, 43253782], [43258939, 43258989], [43262283, 43262484]]
NM_007163 [[43194765, 43195547], [43204595, 43204779], [43205647, 43205828], [43206922, 43207112], [43212314, 43212443], [43216954, 43217147], [43219710, 43219858], [43221173, 43221308], [43223096, 43223146], [43223950, 43224125], [43243749, 43243872], [43246101, 43246184], [43246899, 43247059], [43247797, 43247987], [43248313, 43248442], [43249270, 43249463], [43252864, 43253012], [43253647, 43253782], [43258939, 43258989], [43262283, 43263072]] [[43204629, 43204779], [43205647, 43205828], [43206922, 43207112], [43212314, 43212443], [43216954, 43217147], [43219710, 43219858], [43221173, 43221308], [43223096, 43223146], [43223950, 43224125], [43243749, 43243872], [43246101, 43246184], [43246899, 43247059], [43247797, 43247987], [43248313, 43248442], [43249270, 43249463], [43252864, 43253012], [43253647, 43253782], [43258939, 43258989], [43262283, 43262484]]
Promoter
Chrom Start End Description
chr18 43195438 43195446 CAGE_peak_2_at_SLC14A2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I046008 46008576 46010400 1.21 [{'connected_gene': 'PSTPIP2', 'score': 20.71}, {'connected_gene': 'EPG5', 'score': 15.56}, {'connected_gene': 'RNY4P37', 'score': 13.2}, {'connected_gene': 'SLC14A2', 'score': 1.25}, {'connected_gene': 'LOC100422497', 'score': 0.37}, {'connected_gene': 'RN7SKP26', 'score': 0.37}]
chr18 GH18I045212 45212856 45213005 1.28 [{'connected_gene': 'SLC14A2', 'score': 550.77}, {'connected_gene': 'SETBP1', 'score': 10.82}, {'connected_gene': 'LOC101927961', 'score': 0.29}]
chr18 GH18I045717 45717133 45717147 0.24 [{'connected_gene': 'SLC14A2', 'score': 3.82}, {'connected_gene': 'LOC105372092', 'score': 0.77}, {'connected_gene': 'SLC14A1', 'score': 0.44}, {'connected_gene': 'LOC105372093', 'score': 0.2}]
chr18 GH18I045614 45614769 45616303 0.81 [{'connected_gene': 'SLC14A2', 'score': 550.05}, {'connected_gene': 'GC18P045609', 'score': 0.44}, {'connected_gene': 'ENSG00000266968', 'score': 0.29}]
chr18 GH18I045357 45357219 45357278 0.5 [{'connected_gene': 'SLC14A2', 'score': 550.11}, {'connected_gene': 'GC18P045312', 'score': 0.26}, {'connected_gene': 'GC18P045442', 'score': 0.17}]
chr18 GH18I045242 45242807 45244145 0.31 [{'connected_gene': 'SLC14A2', 'score': 0.29}, {'connected_gene': 'GC18P045292', 'score': 0.25}]
chr18 GH18I045244 45244696 45245850 0.2 [{'connected_gene': 'SLC14A2', 'score': 0.29}, {'connected_gene': 'GC18P045292', 'score': 0.25}]
chr18 GH18I045231 45231311 45232465 0.2 [{'connected_gene': 'SLC14A2', 'score': 0.37}, {'connected_gene': 'GC18P045292', 'score': 0.21}]
chr18 GH18I045236 45236746 45236850 0.22 [{'connected_gene': 'SLC14A2', 'score': 0.34}, {'connected_gene': 'GC18P045292', 'score': 0.22}]
chr18 GH18I045247 45247334 45250179 0.79 [{'connected_gene': 'SLC14A2', 'score': 0.28}, {'connected_gene': 'GC18P045292', 'score': 0.26}]
chr18 GH18I045666 45665518 45667682 1.17 [{'connected_gene': 'SLC14A1', 'score': 6.27}, {'connected_gene': 'ENSG00000266968', 'score': 0.34}, {'connected_gene': 'LOC105372092', 'score': 0.25}, {'connected_gene': 'GC18P045609', 'score': 0.22}, {'connected_gene': 'SLC14A2', 'score': 0.05}]
chr18 GH18I045997 45997340 45999650 1.36 [{'connected_gene': 'EPG5', 'score': 7.38}, {'connected_gene': 'HAUS1', 'score': 5.19}, {'connected_gene': 'SLC14A2', 'score': 4.4}, {'connected_gene': 'RNF165', 'score': 1.55}, {'connected_gene': 'RN7SKP26', 'score': 0.44}, {'connected_gene': 'LOC100422497', 'score': 0.31}, {'connected_gene': 'PSTPIP2', 'score': 0.19}]
chr18 GH18I045324 45324100 45325499 0.94 [{'connected_gene': 'EPG5', 'score': 14.33}, {'connected_gene': 'HAUS1', 'score': 11.85}, {'connected_gene': 'GC18P045312', 'score': 0.39}, {'connected_gene': 'SLC14A2', 'score': 0.14}, {'connected_gene': 'GC18P045442', 'score': 0.13}]
chr18 GH18I045668 45668758 45672167 1.54 [{'connected_gene': 'EPG5', 'score': 1.41}, {'connected_gene': 'ENSG00000266968', 'score': 0.34}, {'connected_gene': 'LOC105372092', 'score': 0.26}, {'connected_gene': 'GC18P045609', 'score': 0.21}, {'connected_gene': 'LOC105372093', 'score': 0.14}, {'connected_gene': 'SLC14A2', 'score': 0.05}]
chr18 GH18I045683 45683128 45683600 0.71 [{'connected_gene': 'LOC105372092', 'score': 0.31}, {'connected_gene': 'ENSG00000266968', 'score': 0.28}, {'connected_gene': 'LOC105372093', 'score': 0.15}, {'connected_gene': 'SLC14A2', 'score': 0.04}]
chr18 GH18I045197 45197011 45198319 0.82 [{'connected_gene': 'LOC101927961', 'score': 0.37}, {'connected_gene': 'SLC14A2', 'score': 0.37}]
chr18 GH18I045567 45567256 45567303 0.38 [{'connected_gene': 'GC18M045568', 'score': 0.34}, {'connected_gene': 'GC18M045496', 'score': 0.25}, {'connected_gene': 'SLC14A2', 'score': 0.05}]
chr18 GH18I045335 45335656 45335805 0.2 [{'connected_gene': 'GC18P045312', 'score': 0.34}, {'connected_gene': 'GC18P045442', 'score': 0.14}, {'connected_gene': 'SLC14A2', 'score': 0.13}]
chr18 GH18I045565 45565755 45567113 0.56 [{'connected_gene': 'GC18M045568', 'score': 0.34}, {'connected_gene': 'GC18M045496', 'score': 0.25}, {'connected_gene': 'SLC14A2', 'score': 0.05}]
chr18 GH18I045291 45291193 45292935 0.66 [{'connected_gene': 'GC18P045292', 'score': 550.77}, {'connected_gene': 'SLC14A2', 'score': 0.18}]
chr18 GH18I045521 45521429 45521600 0.31 [{'connected_gene': 'GC18M045496', 'score': 550.77}, {'connected_gene': 'ENSG00000267354', 'score': 0.39}, {'connected_gene': 'ENSG00000266988', 'score': 0.28}, {'connected_gene': 'GC18M045568', 'score': 0.2}, {'connected_gene': 'SLC14A2', 'score': 0.06}]
chr18 GH18I045523 45522400 45522685 0.4 [{'connected_gene': 'GC18M045496', 'score': 550.77}, {'connected_gene': 'ENSG00000267354', 'score': 0.37}, {'connected_gene': 'ENSG00000266988', 'score': 0.28}, {'connected_gene': 'GC18M045568', 'score': 0.2}, {'connected_gene': 'SLC14A2', 'score': 0.06}]
chr18 GH18I045277 45277987 45278281 0.25 [{'connected_gene': 'GC18P045292', 'score': 0.39}, {'connected_gene': 'SLC14A2', 'score': 0.2}]
chr18 GH18I045553 45553091 45555264 0.78 [{'connected_gene': 'ENSG00000267354', 'score': 7.75}, {'connected_gene': 'GC18M045496', 'score': 0.29}, {'connected_gene': 'GC18M045568', 'score': 0.28}, {'connected_gene': 'SLC14A2', 'score': 0.05}]
chr18 GH18I045518 45518452 45518973 0.43 [{'connected_gene': 'GC18M045496', 'score': 550.77}, {'connected_gene': 'ENSG00000267354', 'score': 0.39}, {'connected_gene': 'ENSG00000266988', 'score': 0.28}, {'connected_gene': 'SLC14A2', 'score': 0.06}]
chr18 GH18I045253 45253923 45256555 0.76 [{'connected_gene': 'GC18P045292', 'score': 0.28}, {'connected_gene': 'SLC14A2', 'score': 0.26}]
chr18 GH18I045330 45330068 45330931 0.2 [{'connected_gene': 'GC18P045312', 'score': 0.37}, {'connected_gene': 'GC18P045442', 'score': 0.14}, {'connected_gene': 'SLC14A2', 'score': 0.13}]
chr18 GH18I045321 45321616 45321671 0.31 [{'connected_gene': 'GC18P045312', 'score': 0.44}, {'connected_gene': 'SLC14A2', 'score': 0.14}, {'connected_gene': 'GC18P045442', 'score': 0.13}]
chr18 GH18I045415 45415662 45416767 0.54 [{'connected_gene': 'GC18P045442', 'score': 0.31}, {'connected_gene': 'GC18P045312', 'score': 0.15}, {'connected_gene': 'SLC14A2', 'score': 0.08}]
chr18 GH18I045627 45626836 45626985 0.46 [{'connected_gene': 'GC18P045609', 'score': 0.37}, {'connected_gene': 'ENSG00000266968', 'score': 0.37}, {'connected_gene': 'SLC14A2', 'score': 0.05}]
chr18 GH18I045322 45321716 45321765 0.31 [{'connected_gene': 'GC18P045312', 'score': 0.44}, {'connected_gene': 'SLC14A2', 'score': 0.14}, {'connected_gene': 'GC18P045442', 'score': 0.13}]
chr18 GH18I045637 45637801 45638001 0.31 [{'connected_gene': 'ENSG00000266968', 'score': 0.44}, {'connected_gene': 'GC18P045609', 'score': 0.31}, {'connected_gene': 'SLC14A2', 'score': 0.05}]
chr18 GH18I045516 45516426 45517765 0.58 [{'connected_gene': 'GC18M045496', 'score': 0.77}, {'connected_gene': 'ENSG00000267354', 'score': 0.44}, {'connected_gene': 'ENSG00000266988', 'score': 0.29}, {'connected_gene': 'SLC14A2', 'score': 0.06}]
chr18 GH18I045358 45357680 45360020 0.56 [{'connected_gene': 'GC18P045312', 'score': 0.25}, {'connected_gene': 'GC18P045442', 'score': 0.18}, {'connected_gene': 'SLC14A2', 'score': 0.11}]
chr18 GH18I045626 45626336 45626445 0.49 [{'connected_gene': 'GC18P045609', 'score': 0.37}, {'connected_gene': 'ENSG00000266968', 'score': 0.37}, {'connected_gene': 'SLC14A2', 'score': 0.05}]
chr18 GH18I045388 45384780 45384932 0.54 [{'connected_gene': 'GC18P045442', 'score': 0.22}, {'connected_gene': 'GC18P045312', 'score': 0.19}, {'connected_gene': 'SLC14A2', 'score': 0.09}]
chr18 GH18I045348 45348976 45349362 0.2 [{'connected_gene': 'GC18P045312', 'score': 0.28}, {'connected_gene': 'GC18P045442', 'score': 0.16}, {'connected_gene': 'SLC14A2', 'score': 0.12}]
chr18 GH18I045385 45385016 45385165 0.38 [{'connected_gene': 'GC18P045442', 'score': 0.22}, {'connected_gene': 'GC18P045312', 'score': 0.19}, {'connected_gene': 'SLC14A2', 'score': 0.09}]
chr18 GH18I045522 45521256 45521425 0.31 [{'connected_gene': 'GC18M045496', 'score': 550.77}, {'connected_gene': 'ENSG00000267354', 'score': 0.39}, {'connected_gene': 'ENSG00000266988', 'score': 0.28}, {'connected_gene': 'GC18M045568', 'score': 0.2}, {'connected_gene': 'SLC14A2', 'score': 0.06}]
chr18 GH18I045616 45616472 45616583 0.2 [{'connected_gene': 'GC18P045609', 'score': 0.44}, {'connected_gene': 'ENSG00000266968', 'score': 0.31}, {'connected_gene': 'SLC14A2', 'score': 0.05}]
chr18 GH18I045587 45587518 45590839 1.48 [{'connected_gene': 'GC18M045568', 'score': 550.77}, {'connected_gene': 'GC18M045496', 'score': 0.2}, {'connected_gene': 'SLC14A2', 'score': 0.05}]
chr18 GH18I045540 45540819 45541784 0.2 [{'connected_gene': 'GC18M045496', 'score': 0.34}, {'connected_gene': 'ENSG00000267354', 'score': 0.29}, {'connected_gene': 'GC18M045568', 'score': 0.25}, {'connected_gene': 'SLC14A2', 'score': 0.05}]
chr18 GH18I045412 45412083 45413151 0.31 [{'connected_gene': 'GC18P045442', 'score': 0.31}, {'connected_gene': 'GC18P045312', 'score': 0.15}, {'connected_gene': 'SLC14A2', 'score': 0.08}]
chr18 GH18I045386 45386136 45386265 0.38 [{'connected_gene': 'GC18P045442', 'score': 0.22}, {'connected_gene': 'GC18P045312', 'score': 0.19}, {'connected_gene': 'SLC14A2', 'score': 0.09}]
chr18 GH18I045384 45384256 45384405 0.52 [{'connected_gene': 'GC18P045442', 'score': 0.22}, {'connected_gene': 'GC18P045312', 'score': 0.19}, {'connected_gene': 'SLC14A2', 'score': 0.09}]
chr18 GH18I045362 45362398 45364170 0.51 [{'connected_gene': 'GC18P045312', 'score': 0.23}, {'connected_gene': 'GC18P045442', 'score': 0.18}, {'connected_gene': 'SLC14A2', 'score': 0.1}]
chr18 GH18I045638 45638136 45638317 0.42 [{'connected_gene': 'ENSG00000266968', 'score': 0.44}, {'connected_gene': 'GC18P045609', 'score': 0.31}, {'connected_gene': 'SLC14A2', 'score': 0.04}]
chr18 GH18I045619 45619596 45619745 0.2 [{'connected_gene': 'GC18P045609', 'score': 0.44}, {'connected_gene': 'ENSG00000266968', 'score': 0.31}, {'connected_gene': 'SLC14A2', 'score': 0.05}]
chr18 GH18I045401 45401835 45403824 0.49 [{'connected_gene': 'ENSG00000266988', 'score': 4.51}, {'connected_gene': 'GC18P045442', 'score': 0.28}, {'connected_gene': 'GC18P045312', 'score': 0.16}, {'connected_gene': 'SLC14A2', 'score': 0.09}]
chr18 GH18I045328 45328064 45329065 0.2 [{'connected_gene': 'GC18P045312', 'score': 0.37}, {'connected_gene': 'GC18P045442', 'score': 0.14}, {'connected_gene': 'SLC14A2', 'score': 0.13}]
chr18 GH18I045617 45617028 45618127 0.69 [{'connected_gene': 'GC18P045609', 'score': 0.44}, {'connected_gene': 'ENSG00000266968', 'score': 0.31}, {'connected_gene': 'SLC14A2', 'score': 0.05}]
chr18 GH18I045329 45329716 45329973 0.2 [{'connected_gene': 'GC18P045312', 'score': 0.37}, {'connected_gene': 'GC18P045442', 'score': 0.14}, {'connected_gene': 'SLC14A2', 'score': 0.13}]
chr18 GH18I045334 45334316 45334525 0.42 [{'connected_gene': 'GC18P045312', 'score': 0.34}, {'connected_gene': 'GC18P045442', 'score': 0.14}, {'connected_gene': 'SLC14A2', 'score': 0.13}]
chr18 GH18I045284 45284952 45285167 0.24 [{'connected_gene': 'GC18P045292', 'score': 0.44}, {'connected_gene': 'SLC14A2', 'score': 0.19}]
chr18 GH18I045387 45384496 45384685 0.69 [{'connected_gene': 'GC18P045442', 'score': 0.22}, {'connected_gene': 'GC18P045312', 'score': 0.19}, {'connected_gene': 'SLC14A2', 'score': 0.09}]
chr18 GH18I045620 45619236 45619385 0.31 [{'connected_gene': 'GC18P045609', 'score': 0.44}, {'connected_gene': 'ENSG00000266968', 'score': 0.31}, {'connected_gene': 'SLC14A2', 'score': 0.05}]
chr18 GH18I045524 45521856 45522005 0.31 [{'connected_gene': 'GC18M045496', 'score': 550.77}, {'connected_gene': 'ENSG00000267354', 'score': 0.39}, {'connected_gene': 'ENSG00000266988', 'score': 0.28}, {'connected_gene': 'GC18M045568', 'score': 0.2}, {'connected_gene': 'SLC14A2', 'score': 0.06}]
chr18 GH18I045657 45657919 45658205 0.31 [{'connected_gene': 'ENSG00000266968', 'score': 0.39}, {'connected_gene': 'GC18P045609', 'score': 0.25}, {'connected_gene': 'LOC105372092', 'score': 0.22}, {'connected_gene': 'SLC14A2', 'score': 0.05}]
chr18 GH18I045651 45651416 45651505 0.38 [{'connected_gene': 'ENSG00000266968', 'score': 0.44}, {'connected_gene': 'GC18P045609', 'score': 0.26}, {'connected_gene': 'LOC105372092', 'score': 0.21}, {'connected_gene': 'SLC14A2', 'score': 0.05}]
chr18 GH18I045665 45665001 45665401 0.99 [{'connected_gene': 'ENSG00000266968', 'score': 0.37}, {'connected_gene': 'LOC105372092', 'score': 0.25}, {'connected_gene': 'GC18P045609', 'score': 0.22}, {'connected_gene': 'SLC14A2', 'score': 0.05}]
chr18 GH18I045456 45456116 45456265 0.38 [{'connected_gene': 'GC18P045442', 'score': 0.39}, {'connected_gene': 'ENSG00000266988', 'score': 0.31}, {'connected_gene': 'SLC14A2-AS1', 'score': 0.23}, {'connected_gene': 'SLC14A2', 'score': 0.07}]
chr18 GH18I045448 45447336 45447405 0.2 [{'connected_gene': 'GC18P045442', 'score': 0.44}, {'connected_gene': 'ENSG00000266988', 'score': 0.28}, {'connected_gene': 'SLC14A2-AS1', 'score': 0.22}, {'connected_gene': 'SLC14A2', 'score': 0.07}]
chr18 GH18I045447 45447656 45447805 0.2 [{'connected_gene': 'GC18P045442', 'score': 0.44}, {'connected_gene': 'ENSG00000266988', 'score': 0.28}, {'connected_gene': 'SLC14A2-AS1', 'score': 0.22}, {'connected_gene': 'SLC14A2', 'score': 0.07}]
chr18 GH18I045449 45449146 45450620 0.63 [{'connected_gene': 'ENSG00000266988', 'score': 7.86}, {'connected_gene': 'GC18P045442', 'score': 0.44}, {'connected_gene': 'SLC14A2-AS1', 'score': 0.22}, {'connected_gene': 'SLC14A2', 'score': 0.07}]

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