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
ENST00000310614 [[73498360, 73499037], [73516071, 73516124], [73519357, 73519395], [73536752, 73536841], [73555851, 73556021], [73570951, 73571054], [73574216, 73574306], [73575340, 73575656]] [[73499016, 73499037], [73516071, 73516124], [73519357, 73519395], [73536752, 73536841], [73555851, 73556021], [73570951, 73571054], [73574216, 73574306], [73575340, 73575415]]
ENST00000535529 [[73498916, 73499037], [73516071, 73516124], [73519357, 73519395], [73534057, 73534115], [73536752, 73536841], [73555851, 73556021], [73570951, 73571054], [73574216, 73574306], [73575340, 73576178]] [[73534057, 73534115], [73536752, 73536841], [73555851, 73556021], [73570951, 73571054], [73574216, 73574306], [73575340, 73575415]]
ENST00000508278 [[73498916, 73499037], [73516071, 73516124], [73519357, 73519395], [73534057, 73534115], [73536752, 73536841], [73555851, 73556021], [73570951, 73571054], [73574216, 73574306], [73575340, 73576178]] [[73499016, 73499037], [73516071, 73516124], [73519357, 73519395], [73534057, 73534071]]
ENST00000540162 [[73498921, 73499037], [73516071, 73516124], [73519357, 73519395], [73528867, 73528992], [73536752, 73536841], [73555851, 73556021], [73570951, 73571054], [73574216, 73574306], [73575340, 73575560]] [[73499016, 73499037], [73516071, 73516124], [73519357, 73519395], [73528867, 73528914]]
ENST00000544140 [[73498927, 73499037], [73516071, 73516124], [73536752, 73536841], [73555851, 73556021], [73570951, 73571525]] [[73499016, 73499037], [73516071, 73516124], [73536752, 73536831]]
ENST00000544819 [[73498929, 73499037], [73516071, 73516124], [73536752, 73536841], [73555851, 73556021], [73570951, 73571054], [73574216, 73574306], [73575340, 73575469]] [[73499016, 73499037], [73516071, 73516124], [73536752, 73536831]]
ENST00000497094 [[73498935, 73499037], [73516071, 73516124], [73519357, 73519395], [73536752, 73536841], [73554291, 73554412], [73555851, 73555979]] [[73555947, 73555979]]
ENST00000411840 [[73498939, 73499037], [73500379, 73500535], [73513125, 73513222], [73516071, 73516124], [73519357, 73519395], [73536752, 73536841], [73555851, 73556021], [73570951, 73571054], [73574216, 73574306], [73575340, 73575643]] [[73555947, 73556021], [73570951, 73571054], [73574216, 73574306], [73575340, 73575415]]
ENST00000535277 [[73498950, 73499037], [73500379, 73500535], [73516071, 73516124], [73519357, 73519395], [73536752, 73536841], [73555851, 73556026]] [[73555947, 73556026]]
ENST00000398483 [[73498950, 73499037], [73500379, 73500535], [73516071, 73516124], [73536752, 73536841], [73555851, 73556021], [73570951, 73571054], [73574216, 73574306], [73575340, 73575650]] [[73555947, 73556021], [73570951, 73571054], [73574216, 73574306], [73575340, 73575415]]
ENST00000542303 [[73498953, 73499037], [73516071, 73516124], [73519357, 73519395], [73536752, 73536841], [73574216, 73574306], [73575340, 73575647]] [[73499016, 73499037], [73516071, 73516124], [73519357, 73519395], [73536752, 73536841], [73574216, 73574306], [73575340, 73575415]]
ENST00000537007 [[73498974, 73499037], [73536752, 73536841], [73555851, 73555986]] [[73555947, 73555986]]
ENST00000543058 [[73499001, 73499037], [73516071, 73516124], [73519357, 73519395], [73555851, 73556021], [73574216, 73574306], [73575340, 73575652]] [[73499016, 73499037], [73516071, 73516124], [73519357, 73519395], [73555851, 73555892]]
ENST00000543374 [[73519352, 73519395], [73536752, 73536841], [73555851, 73556182]] None
ENST00000314282 [[73553157, 73554412], [73555851, 73556021], [73570951, 73571054], [73574216, 73574306], [73575340, 73575644]] [[73555947, 73556021], [73570951, 73571054], [73574216, 73574306], [73575340, 73575415]]
NR_134658 [[73498916, 73499037], [73516071, 73516124], [73536752, 73536841], [73555851, 73556021], [73570951, 73571054], [73574216, 73574306], [73575340, 73575656]] None
NR_134661 [[73498916, 73499037], [73516071, 73516124], [73519357, 73519395], [73555851, 73556021], [73574216, 73574306], [73575340, 73575656]] None
NM_001318500 [[73498916, 73499037], [73516071, 73516124], [73519357, 73519395], [73536752, 73536841], [73574216, 73574306], [73575340, 73575656]] [[73499016, 73499037], [73516071, 73516124], [73519357, 73519395], [73536752, 73536841], [73574216, 73574306], [73575340, 73575415]]
NM_016055 [[73498916, 73499037], [73516071, 73516124], [73519357, 73519395], [73536752, 73536841], [73555851, 73556021], [73570951, 73571054], [73574216, 73574306], [73575340, 73575656]] [[73499016, 73499037], [73516071, 73516124], [73519357, 73519395], [73536752, 73536841], [73555851, 73556021], [73570951, 73571054], [73574216, 73574306], [73575340, 73575415]]
NM_001318498 [[73498916, 73499037], [73516071, 73516124], [73519357, 73519395], [73534057, 73534115], [73536752, 73536841], [73555851, 73556021], [73570951, 73571054], [73574216, 73574306], [73575340, 73575656]] [[73534057, 73534115], [73536752, 73536841], [73555851, 73556021], [73570951, 73571054], [73574216, 73574306], [73575340, 73575415]]
NM_001318499 [[73498916, 73499037], [73516071, 73516124], [73519357, 73519395], [73528869, 73528992], [73536752, 73536841], [73555851, 73556021], [73570951, 73571054], [73574216, 73574306], [73575340, 73575656]] [[73499016, 73499037], [73516071, 73516124], [73519357, 73519395], [73528869, 73528992], [73536752, 73536841], [73555851, 73556021], [73570951, 73571054], [73574216, 73574306], [73575340, 73575415]]
NR_134660 [[73498916, 73499037], [73500379, 73500535], [73516071, 73516124], [73536752, 73536841], [73555851, 73556021], [73570951, 73571054], [73574216, 73574306], [73575340, 73575656]] None
NR_134659 [[73498916, 73499037], [73500379, 73500535], [73513125, 73513222], [73516071, 73516124], [73519357, 73519395], [73536752, 73536841], [73555851, 73556021], [73570951, 73571054], [73574216, 73574306], [73575340, 73575656]] None
Promoter
Chrom Start End Description
chr11 73498898 73498965 CAGE_peak_1_at_MRPL48_5end
chr11 73498973 73498982 CAGE_peak_2_at_MRPL48_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I073537 73537202 73539237 0.77 [{'connected_gene': 'ARHGEF17', 'score': 19.05}, {'connected_gene': 'FAM168A', 'score': 17.95}, {'connected_gene': 'RELT', 'score': 15.41}, {'connected_gene': 'PLEKHB1', 'score': 11.51}, {'connected_gene': 'ENSG00000256448', 'score': 11.19}, {'connected_gene': 'MRPL48', 'score': 9.63}, {'connected_gene': 'ENSG00000255928', 'score': 9.53}, {'connected_gene': 'GC11M073518', 'score': 0.34}, {'connected_gene': 'HMGN2P38', 'score': 0.26}]
chr11 GH11I073880 73880596 73880745 0.67 [{'connected_gene': 'PAAF1', 'score': 14.82}, {'connected_gene': 'RAB6A', 'score': 10.34}, {'connected_gene': 'ENSG00000256034', 'score': 10.33}, {'connected_gene': 'ENSG00000255847', 'score': 10.28}, {'connected_gene': 'MRPL48', 'score': 10.18}, {'connected_gene': 'ENSG00000255928', 'score': 9.26}, {'connected_gene': 'COA4', 'score': 0.77}, {'connected_gene': 'PIR59200', 'score': 0.37}, {'connected_gene': 'GC11P073901', 'score': 0.37}]
chr11 GH11I073872 73872018 73877890 2.06 [{'connected_gene': 'PAAF1', 'score': 550.77}, {'connected_gene': 'COA4', 'score': 550.77}, {'connected_gene': 'MRPL48', 'score': 23.76}, {'connected_gene': 'POLD3', 'score': 21.51}, {'connected_gene': 'RNF169', 'score': 10.53}, {'connected_gene': 'PLEKHB1', 'score': 10.11}, {'connected_gene': 'FAM168A', 'score': 6.48}, {'connected_gene': 'CCDC58P5', 'score': 0.34}]
chr11 GH11I073907 73907401 73907600 0.56 [{'connected_gene': 'PAAF1', 'score': 33.04}, {'connected_gene': 'COA4', 'score': 11.24}, {'connected_gene': 'MRPL48', 'score': 5.42}, {'connected_gene': 'PIR59200', 'score': 0.44}, {'connected_gene': 'GC11P073901', 'score': 0.44}, {'connected_gene': 'ARPC3P4', 'score': 0.39}]
chr11 GH11I073968 73968097 73985029 2.52 [{'connected_gene': 'UCP2', 'score': 559.72}, {'connected_gene': 'POLD3', 'score': 27.32}, {'connected_gene': 'ENSG00000206913', 'score': 20.72}, {'connected_gene': 'RNF169', 'score': 20.39}, {'connected_gene': 'UCP3', 'score': 11.68}, {'connected_gene': 'RN7SL239P', 'score': 9.76}, {'connected_gene': 'MRPL48', 'score': 8.49}, {'connected_gene': 'DNAJB13', 'score': 8.09}, {'connected_gene': 'P4HA3', 'score': 7.96}, {'connected_gene': 'PPME1', 'score': 7.74}, {'connected_gene': 'LOC100421622', 'score': 7.26}, {'connected_gene': 'PAAF1', 'score': 6.92}, {'connected_gene': 'ENSG00000255847', 'score': 0.44}]
chr11 GH11I073783 73783145 73785606 1.18 [{'connected_gene': 'RAB6A', 'score': 11.66}, {'connected_gene': 'UCP2', 'score': 5.0}, {'connected_gene': 'MRPL48', 'score': 0.77}]
chr11 GH11I073757 73757396 73762012 2.07 [{'connected_gene': 'RAB6A', 'score': 550.77}, {'connected_gene': 'ENSG00000256034', 'score': 550.77}, {'connected_gene': 'MRPL48', 'score': 30.45}, {'connected_gene': 'POLD3', 'score': 18.01}, {'connected_gene': 'ENSG00000206913', 'score': 13.5}, {'connected_gene': 'ENSG00000255928', 'score': 10.51}, {'connected_gene': 'PAAF1', 'score': 10.38}, {'connected_gene': 'COA4', 'score': 10.38}, {'connected_gene': 'RNF169', 'score': 9.85}, {'connected_gene': 'PLEKHB1', 'score': 9.17}, {'connected_gene': 'GC11P073724', 'score': 0.28}]
chr11 GH11I073797 73797133 73798081 0.2 [{'connected_gene': 'RAB6A', 'score': 22.72}, {'connected_gene': 'ENSG00000256034', 'score': 11.53}, {'connected_gene': 'ENSG00000255928', 'score': 10.7}, {'connected_gene': 'MRPL48', 'score': 6.05}, {'connected_gene': 'GC11M073833', 'score': 0.28}, {'connected_gene': 'RN7SKP243', 'score': 0.28}]
chr11 GH11I073796 73796036 73796165 0.31 [{'connected_gene': 'RAB6A', 'score': 11.55}, {'connected_gene': 'ENSG00000256034', 'score': 11.53}, {'connected_gene': 'MRPL48', 'score': 0.44}, {'connected_gene': 'GC11M073833', 'score': 0.28}, {'connected_gene': 'RN7SKP243', 'score': 0.28}]
chr11 GH11I073645 73645201 73649017 2.31 [{'connected_gene': 'PLEKHB1', 'score': 565.52}, {'connected_gene': 'MRPL48', 'score': 14.07}, {'connected_gene': 'PPME1', 'score': 5.39}, {'connected_gene': 'FAM168A', 'score': 4.9}, {'connected_gene': 'P4HA3', 'score': 4.2}, {'connected_gene': 'GC11M073664', 'score': 0.37}]
chr11 GH11I073635 73635089 73636013 0.2 [{'connected_gene': 'PLEKHB1', 'score': 13.25}, {'connected_gene': 'MRPL48', 'score': 12.52}, {'connected_gene': 'FAM168A', 'score': 5.04}, {'connected_gene': 'LOC100419713', 'score': 0.77}]
chr11 GH11I073542 73542201 73542800 0.38 [{'connected_gene': 'PLEKHB1', 'score': 11.51}, {'connected_gene': 'FAM168A', 'score': 11.15}, {'connected_gene': 'RELT', 'score': 10.06}, {'connected_gene': 'ARHGEF17', 'score': 10.02}, {'connected_gene': 'MRPL48', 'score': 9.63}, {'connected_gene': 'GC11M073518', 'score': 0.34}, {'connected_gene': 'HMGN2P38', 'score': 0.28}]
chr11 GH11I073657 73657314 73658756 0.38 [{'connected_gene': 'MRPL48', 'score': 11.85}, {'connected_gene': 'ENSG00000256448', 'score': 11.74}, {'connected_gene': 'RELT', 'score': 11.09}, {'connected_gene': 'ARHGEF17', 'score': 11.08}, {'connected_gene': 'ENSG00000255928', 'score': 10.8}, {'connected_gene': 'PAAF1', 'score': 10.17}, {'connected_gene': 'COA4', 'score': 10.17}, {'connected_gene': 'PLEKHB1', 'score': 7.69}, {'connected_gene': 'GC11M073664', 'score': 0.44}]
chr11 GH11I073818 73818313 73819343 0.31 [{'connected_gene': 'MRPL48', 'score': 28.27}, {'connected_gene': 'PAAF1', 'score': 10.51}, {'connected_gene': 'COA4', 'score': 10.51}, {'connected_gene': 'FAM168A', 'score': 9.7}, {'connected_gene': 'PLEKHB1', 'score': 5.24}, {'connected_gene': 'GC11M073833', 'score': 0.39}, {'connected_gene': 'RN7SKP243', 'score': 0.39}]
chr11 GH11I073778 73778610 73781341 1.62 [{'connected_gene': 'MRPL48', 'score': 17.28}, {'connected_gene': 'RAB6A', 'score': 11.77}, {'connected_gene': 'UCP2', 'score': 6.07}, {'connected_gene': 'FAM168A', 'score': 4.74}]
chr11 GH11I073856 73856176 73856325 0.31 [{'connected_gene': 'MRPL48', 'score': 10.6}, {'connected_gene': 'RAB6A', 'score': 10.48}, {'connected_gene': 'ENSG00000256034', 'score': 10.48}, {'connected_gene': 'UCP2', 'score': 6.98}, {'connected_gene': 'CCDC58P5', 'score': 0.44}, {'connected_gene': 'PAAF1', 'score': 0.34}]
chr11 GH11I073866 73866051 73870887 0.93 [{'connected_gene': 'MRPL48', 'score': 22.91}, {'connected_gene': 'RAB6A', 'score': 14.49}, {'connected_gene': 'ENSG00000256034', 'score': 10.45}, {'connected_gene': 'ENSG00000255928', 'score': 9.72}, {'connected_gene': 'PLEKHB1', 'score': 9.22}, {'connected_gene': 'PAAF1', 'score': 0.44}, {'connected_gene': 'CCDC58P5', 'score': 0.37}]
chr11 GH11I073838 73838120 73839145 0.43 [{'connected_gene': 'MRPL48', 'score': 18.16}, {'connected_gene': 'RAB6A', 'score': 8.19}, {'connected_gene': 'PLEKHB1', 'score': 1.48}, {'connected_gene': 'GC11M073833', 'score': 0.44}, {'connected_gene': 'RN7SKP243', 'score': 0.44}, {'connected_gene': 'CCDC58P5', 'score': 0.39}]
chr11 GH11I073752 73752110 73754795 0.74 [{'connected_gene': 'MRPL48', 'score': 23.39}, {'connected_gene': 'ENSG00000255928', 'score': 11.89}, {'connected_gene': 'PLEKHB1', 'score': 7.87}, {'connected_gene': 'RAB6A', 'score': 0.44}, {'connected_gene': 'ENSG00000256034', 'score': 0.44}, {'connected_gene': 'GC11P073724', 'score': 0.31}]
chr11 GH11I073749 73749404 73751796 0.77 [{'connected_gene': 'MRPL48', 'score': 28.43}, {'connected_gene': 'ENSG00000255928', 'score': 11.91}, {'connected_gene': 'PLEKHB1', 'score': 10.3}, {'connected_gene': 'RAB6A', 'score': 8.45}, {'connected_gene': 'ENSG00000256034', 'score': 0.44}, {'connected_gene': 'GC11P073724', 'score': 0.31}]
chr11 GH11I073840 73840096 73840472 0.22 [{'connected_gene': 'MRPL48', 'score': 16.42}, {'connected_gene': 'PLEKHB1', 'score': 6.57}, {'connected_gene': 'GC11M073833', 'score': 0.44}, {'connected_gene': 'RN7SKP243', 'score': 0.44}, {'connected_gene': 'CCDC58P5', 'score': 0.39}]
chr11 GH11I073911 73911135 73912852 0.31 [{'connected_gene': 'MRPL48', 'score': 20.73}, {'connected_gene': 'DNAJB13', 'score': 11.74}, {'connected_gene': 'PAAF1', 'score': 11.5}, {'connected_gene': 'COA4', 'score': 11.5}, {'connected_gene': 'RAB6A', 'score': 10.34}, {'connected_gene': 'ENSG00000256034', 'score': 10.34}, {'connected_gene': 'ENSG00000255928', 'score': 10.06}, {'connected_gene': 'PLEKHB1', 'score': 8.09}, {'connected_gene': 'PIR59200', 'score': 0.39}, {'connected_gene': 'ARPC3P4', 'score': 0.39}, {'connected_gene': 'GC11P073901', 'score': 0.39}]
chr11 GH11I073955 73955805 73956751 0.69 [{'connected_gene': 'MRPL48', 'score': 6.15}, {'connected_gene': 'DNAJB13', 'score': 0.44}, {'connected_gene': 'ENSG00000255847', 'score': 0.39}]
chr11 GH11I073786 73786738 73789983 2.14 [{'connected_gene': 'MRPL48', 'score': 568.12}, {'connected_gene': 'POLD3', 'score': 58.83}, {'connected_gene': 'ENSG00000206913', 'score': 43.22}, {'connected_gene': 'RNF169', 'score': 29.89}, {'connected_gene': 'ARPC3P4', 'score': 25.4}, {'connected_gene': 'RAB6A', 'score': 22.67}, {'connected_gene': 'C2CD3', 'score': 20.55}, {'connected_gene': 'P4HA3', 'score': 12.73}, {'connected_gene': 'ENSG00000256034', 'score': 11.57}, {'connected_gene': 'ENSG00000254837', 'score': 10.7}, {'connected_gene': 'PLEKHB1', 'score': 8.09}, {'connected_gene': 'GC11M073833', 'score': 0.26}, {'connected_gene': 'RN7SKP243', 'score': 0.26}]
chr11 GH11I073623 73623201 73624400 0.58 [{'connected_gene': 'MRPL48', 'score': 7.61}, {'connected_gene': 'LOC100419713', 'score': 0.37}, {'connected_gene': 'FAM168A', 'score': 0.31}]
chr11 GH11I073999 73999072 74003319 0.54 [{'connected_gene': 'P4HA3', 'score': 15.77}, {'connected_gene': 'PPME1', 'score': 12.4}, {'connected_gene': 'ENSG00000255847', 'score': 11.28}, {'connected_gene': 'MRPL48', 'score': 6.84}, {'connected_gene': 'PLEKHB1', 'score': 4.84}, {'connected_gene': 'UCP3', 'score': 0.44}, {'connected_gene': 'LOC100421622', 'score': 0.44}]
chr11 GH11I073851 73851196 73851669 0.69 [{'connected_gene': 'CCDC58P5', 'score': 550.77}, {'connected_gene': 'PAAF1', 'score': 11.77}, {'connected_gene': 'COA4', 'score': 11.77}, {'connected_gene': 'MRPL48', 'score': 10.44}, {'connected_gene': 'RAB6A', 'score': 10.37}, {'connected_gene': 'ENSG00000256034', 'score': 10.37}, {'connected_gene': 'ENSG00000255928', 'score': 10.3}]
chr11 GH11I073651 73651763 73653130 1.03 [{'connected_gene': 'ENSG00000256928', 'score': 11.53}, {'connected_gene': 'RELT', 'score': 11.53}, {'connected_gene': 'ARHGEF17', 'score': 10.96}, {'connected_gene': 'FAM168A', 'score': 10.94}, {'connected_gene': 'MRPL48', 'score': 6.56}, {'connected_gene': 'PLEKHB1', 'score': 0.44}, {'connected_gene': 'GC11M073664', 'score': 0.39}]
chr11 GH11I073664 73664001 73664400 0.4 [{'connected_gene': 'GC11M073664', 'score': 550.77}, {'connected_gene': 'MRPL48', 'score': 12.29}, {'connected_gene': 'RELT', 'score': 11.17}, {'connected_gene': 'ARHGEF17', 'score': 11.16}, {'connected_gene': 'ENSG00000255928', 'score': 10.95}, {'connected_gene': 'FAM168A', 'score': 10.46}, {'connected_gene': 'PLEKHB1', 'score': 7.86}]
chr11 GH11I073665 73664516 73665672 0.2 [{'connected_gene': 'GC11M073664', 'score': 550.77}, {'connected_gene': 'MRPL48', 'score': 13.06}, {'connected_gene': 'RELT', 'score': 11.17}, {'connected_gene': 'ARHGEF17', 'score': 11.16}, {'connected_gene': 'ENSG00000255928', 'score': 10.95}, {'connected_gene': 'FAM168A', 'score': 10.46}, {'connected_gene': 'LOC268276', 'score': 0.31}]
chr11 GH11I073716 73716276 73716425 0.69 [{'connected_gene': 'GC11P073716', 'score': 550.77}, {'connected_gene': 'MRPL48', 'score': 10.28}, {'connected_gene': 'PIR54387', 'score': 0.44}, {'connected_gene': 'RAB6A', 'score': 0.26}]
chr11 GH11I073660 73660411 73661985 1.28 [{'connected_gene': 'ENSG00000206913', 'score': 14.23}, {'connected_gene': 'POLD3', 'score': 12.46}, {'connected_gene': 'MRPL48', 'score': 12.25}, {'connected_gene': 'ENSG00000256448', 'score': 11.74}, {'connected_gene': 'RELT', 'score': 11.09}, {'connected_gene': 'ARHGEF17', 'score': 11.08}, {'connected_gene': 'ENSG00000255928', 'score': 10.8}, {'connected_gene': 'PAAF1', 'score': 10.17}, {'connected_gene': 'COA4', 'score': 10.17}, {'connected_gene': 'PLEKHB1', 'score': 7.66}, {'connected_gene': 'GC11M073664', 'score': 0.77}]

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