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
ENST00000322366 [[85590703, 85594144], [85598351, 85598549], [85599320, 85599432], [85600071, 85600395], [85603526, 85603623], [85605095, 85605278], [85609238, 85609418], [85611658, 85611817], [85612783, 85612938], [85614037, 85614185], [85617122, 85617335], [85617884, 85617976], [85623505, 85623659], [85625490, 85625597], [85626546, 85626664], [85630061, 85630181], [85630445, 85630500], [85634311, 85634392], [85636450, 85636536], [85638048, 85638169], [85639574, 85639723], [85642561, 85642725], [85645578, 85645747], [85654534, 85654762], [85656195, 85656273], [85657322, 85657480], [85658336, 85658519], [85660162, 85660272], [85661339, 85661569], [85662913, 85663074], [85664852, 85664952], [85672635, 85672869], [85674849, 85675029], [85676418, 85676553], [85678078, 85678314], [85686962, 85687180], [85687404, 85687525], [85693987, 85694082], [85695972, 85696134], [85696217, 85696291], [85699655, 85699808], [85701260, 85701451], [85704115, 85704227], [85707131, 85707292], [85708634, 85708866], [85710878, 85711060], [85715671, 85715890], [85716031, 85716132], [85717673, 85717905], [85719148, 85719261], [85722802, 85723017], [85724442, 85724620], [85729486, 85729570], [85731039, 85731497], [85738544, 85738738], [85741237, 85741339], [85742236, 85742704], [85747967, 85748134], [85750156, 85750343], [85752565, 85752758], [85758081, 85758243], [85762306, 85762416], [85771054, 85771178], [85781564, 85781775], [85818063, 85818163], [85853422, 85853516], [85887361, 85887544]] [[85594020, 85594144], [85598351, 85598549], [85599320, 85599432], [85600071, 85600395], [85603526, 85603623], [85605095, 85605278], [85609238, 85609418], [85611658, 85611817], [85612783, 85612938], [85614037, 85614185], [85617122, 85617335], [85617884, 85617976], [85623505, 85623659], [85625490, 85625597], [85626546, 85626664], [85630061, 85630181], [85630445, 85630500], [85634311, 85634392], [85636450, 85636536], [85638048, 85638169], [85639574, 85639723], [85642561, 85642725], [85645578, 85645747], [85654534, 85654762], [85656195, 85656273], [85657322, 85657480], [85658336, 85658519], [85660162, 85660272], [85661339, 85661569], [85662913, 85663074], [85664852, 85664952], [85672635, 85672869], [85674849, 85675029], [85676418, 85676553], [85678078, 85678314], [85686962, 85687180], [85687404, 85687525], [85693987, 85694082], [85695972, 85696134], [85696217, 85696291], [85699655, 85699808], [85701260, 85701451], [85704115, 85704227], [85707131, 85707292], [85708634, 85708866], [85710878, 85711060], [85715671, 85715890], [85716031, 85716132], [85717673, 85717905], [85719148, 85719261], [85722802, 85723017], [85724442, 85724620], [85729486, 85729570], [85731039, 85731497], [85738544, 85738738], [85741237, 85741339], [85742236, 85742704], [85747967, 85748134], [85750156, 85750343], [85752565, 85752758], [85758081, 85758243], [85762306, 85762416], [85771054, 85771178], [85781564, 85781744]]
ENST00000295888 [[85590762, 85594144], [85598351, 85598549], [85599320, 85599432], [85600071, 85600395], [85603526, 85603623], [85605095, 85605278], [85609238, 85609418], [85611658, 85611817], [85612783, 85612938], [85614037, 85614185], [85617122, 85617335], [85617884, 85617976], [85623505, 85623659], [85625490, 85625597], [85626546, 85626664], [85630061, 85630181], [85630445, 85630500], [85634311, 85634392], [85636450, 85636536], [85638048, 85638169], [85639574, 85639723], [85642561, 85642725], [85645578, 85645747], [85648013, 85648064], [85654534, 85654762], [85656195, 85656273], [85657322, 85657480], [85658336, 85658519], [85660162, 85660272], [85661339, 85661569], [85662913, 85663074], [85664852, 85664952], [85672635, 85672869], [85674849, 85675029], [85676418, 85676553], [85678078, 85678314], [85686962, 85687180], [85687404, 85687525], [85693987, 85694082], [85695972, 85696134], [85696217, 85696291], [85699655, 85699808], [85701260, 85701451], [85704115, 85704227], [85707131, 85707292], [85708634, 85708866], [85710878, 85711060], [85715671, 85715890], [85716031, 85716132], [85717673, 85717905], [85719148, 85719261], [85722802, 85723017], [85724442, 85724620], [85729486, 85729570], [85731039, 85731497], [85738544, 85738738], [85741237, 85741339], [85742236, 85742704], [85747967, 85748134], [85750156, 85750343], [85752565, 85752758], [85758081, 85758243], [85762306, 85762416], [85771054, 85771178], [85781564, 85781775], [85818063, 85818163], [85853422, 85853516], [85887361, 85887544]] [[85594020, 85594144], [85598351, 85598549], [85599320, 85599432], [85600071, 85600395], [85603526, 85603623], [85605095, 85605278], [85609238, 85609418], [85611658, 85611817], [85612783, 85612938], [85614037, 85614185], [85617122, 85617335], [85617884, 85617976], [85623505, 85623659], [85625490, 85625597], [85626546, 85626664], [85630061, 85630181], [85630445, 85630500], [85634311, 85634392], [85636450, 85636536], [85638048, 85638169], [85639574, 85639723], [85642561, 85642725], [85645578, 85645747], [85648013, 85648064], [85654534, 85654762], [85656195, 85656273], [85657322, 85657480], [85658336, 85658519], [85660162, 85660272], [85661339, 85661569], [85662913, 85663074], [85664852, 85664952], [85672635, 85672869], [85674849, 85675029], [85676418, 85676553], [85678078, 85678314], [85686962, 85687180], [85687404, 85687525], [85693987, 85694082], [85695972, 85696134], [85696217, 85696291], [85699655, 85699808], [85701260, 85701451], [85704115, 85704227], [85707131, 85707292], [85708634, 85708866], [85710878, 85711060], [85715671, 85715890], [85716031, 85716132], [85717673, 85717905], [85719148, 85719261], [85722802, 85723017], [85724442, 85724620], [85729486, 85729570], [85731039, 85731497], [85738544, 85738738], [85741237, 85741339], [85742236, 85742704], [85747967, 85748134], [85750156, 85750343], [85752565, 85752758], [85758081, 85758243], [85762306, 85762416], [85771054, 85771178], [85781564, 85781744]]
ENST00000509172 [[85781564, 85781775], [85818063, 85818163], [85887361, 85887503]] [[85781564, 85781744]]
ENST00000502713 [[85781716, 85781775], [85800558, 85800647], [85853422, 85853516], [85887361, 85887544]] [[85781716, 85781744]]
ENST00000425179 [[85593443, 85594144], [85598351, 85598549], [85599320, 85599432], [85600071, 85600395], [85603526, 85604101]] None
ENST00000514711 [[85612878, 85612938], [85614037, 85614185], [85617122, 85617335], [85617884, 85617976], [85623505, 85623659], [85625490, 85625597], [85626546, 85626664], [85630061, 85630181], [85630445, 85630500], [85634311, 85634392], [85636450, 85636536], [85638048, 85638169], [85639574, 85639723], [85642561, 85642725], [85645578, 85645747], [85654534, 85654615]] [[85612878, 85612938], [85614037, 85614185], [85617122, 85617335], [85617884, 85617976], [85623505, 85623659], [85625490, 85625597], [85626546, 85626664], [85630061, 85630181], [85630445, 85630500], [85634311, 85634392], [85636450, 85636536], [85638048, 85638169], [85639574, 85639723], [85642561, 85642725], [85645578, 85645747], [85654534, 85654615]]
ENST00000504839 [[85656258, 85656273], [85657322, 85657480], [85658336, 85658519], [85660162, 85660483]] None
ENST00000509825 [[85672400, 85672869], [85674849, 85675029], [85676418, 85676552]] None
ENST00000505923 [[85722934, 85723017], [85724442, 85724620], [85731039, 85731260]] None
ENST00000512267 [[85722942, 85723017], [85724442, 85724620], [85725035, 85725327]] None
ENST00000426414 [[85730018, 85731497], [85738544, 85738738], [85741237, 85741339], [85742236, 85742704], [85747967, 85748134], [85750156, 85750343], [85752565, 85752758], [85758081, 85758243], [85762306, 85762416], [85771054, 85771178], [85781564, 85781775], [85818063, 85818094]] None
ENST00000514071 [[85762344, 85762416], [85765608, 85765662], [85771054, 85771168]] [[85762344, 85762416], [85765608, 85765662], [85771054, 85771168]]
ENST00000504990 [[85770825, 85771178], [85781564, 85781716]] None
NM_014991 [[85590689, 85594144], [85598351, 85598549], [85599320, 85599432], [85600071, 85600395], [85603526, 85603623], [85605095, 85605278], [85609238, 85609418], [85611658, 85611817], [85612783, 85612938], [85614037, 85614185], [85617122, 85617335], [85617884, 85617976], [85623505, 85623659], [85625490, 85625597], [85626546, 85626664], [85630061, 85630181], [85630445, 85630500], [85634311, 85634392], [85636450, 85636536], [85638048, 85638169], [85639574, 85639723], [85642561, 85642725], [85645578, 85645747], [85648013, 85648064], [85654534, 85654762], [85656195, 85656273], [85657322, 85657480], [85658336, 85658519], [85660162, 85660272], [85661339, 85661569], [85662913, 85663074], [85664852, 85664952], [85672635, 85672869], [85674849, 85675029], [85676418, 85676553], [85678078, 85678314], [85686962, 85687180], [85687404, 85687525], [85693987, 85694082], [85695972, 85696134], [85696217, 85696291], [85699655, 85699808], [85701260, 85701451], [85704115, 85704227], [85707131, 85707292], [85708634, 85708866], [85710878, 85711060], [85715671, 85715890], [85716031, 85716132], [85717673, 85717905], [85719148, 85719261], [85722802, 85723017], [85724442, 85724620], [85729486, 85729570], [85731039, 85731497], [85738544, 85738738], [85741237, 85741339], [85742236, 85742704], [85747967, 85748134], [85750156, 85750343], [85752565, 85752758], [85758081, 85758243], [85762306, 85762416], [85771054, 85771178], [85781564, 85781775], [85818063, 85818163], [85853422, 85853516], [85887361, 85887544]] [[85594020, 85594144], [85598351, 85598549], [85599320, 85599432], [85600071, 85600395], [85603526, 85603623], [85605095, 85605278], [85609238, 85609418], [85611658, 85611817], [85612783, 85612938], [85614037, 85614185], [85617122, 85617335], [85617884, 85617976], [85623505, 85623659], [85625490, 85625597], [85626546, 85626664], [85630061, 85630181], [85630445, 85630500], [85634311, 85634392], [85636450, 85636536], [85638048, 85638169], [85639574, 85639723], [85642561, 85642725], [85645578, 85645747], [85648013, 85648064], [85654534, 85654762], [85656195, 85656273], [85657322, 85657480], [85658336, 85658519], [85660162, 85660272], [85661339, 85661569], [85662913, 85663074], [85664852, 85664952], [85672635, 85672869], [85674849, 85675029], [85676418, 85676553], [85678078, 85678314], [85686962, 85687180], [85687404, 85687525], [85693987, 85694082], [85695972, 85696134], [85696217, 85696291], [85699655, 85699808], [85701260, 85701451], [85704115, 85704227], [85707131, 85707292], [85708634, 85708866], [85710878, 85711060], [85715671, 85715890], [85716031, 85716132], [85717673, 85717905], [85719148, 85719261], [85722802, 85723017], [85724442, 85724620], [85729486, 85729570], [85731039, 85731497], [85738544, 85738738], [85741237, 85741339], [85742236, 85742704], [85747967, 85748134], [85750156, 85750343], [85752565, 85752758], [85758081, 85758243], [85762306, 85762416], [85771054, 85771178], [85781564, 85781744]]
Promoter
Chrom Start End Description
chr4 85887789 85887862 CAGE_peak_1_at_WDFY3_5end
chr4 85888007 85888077 CAGE_peak_2_at_WDFY3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I084951 84951151 84953596 0.75 [{'connected_gene': 'WDFY3-AS2', 'score': 10.28}, {'connected_gene': 'WDFY3', 'score': 0.39}, {'connected_gene': 'RNU6-469P', 'score': 0.2}]
chr4 GH04I084945 84945048 84945197 0.43 [{'connected_gene': 'WDFY3-AS2', 'score': 0.34}, {'connected_gene': 'WDFY3', 'score': 0.34}, {'connected_gene': 'RNU6-469P', 'score': 0.22}]
chr4 GH04I084937 84937060 84940121 0.66 [{'connected_gene': 'WDFY3-AS2', 'score': 24.63}, {'connected_gene': 'WDFY3', 'score': 12.04}, {'connected_gene': 'WDFY3-AS1', 'score': 10.57}, {'connected_gene': 'RNU6-469P', 'score': 0.23}]
chr4 GH04I084977 84977601 84978000 0.2 [{'connected_gene': 'WDFY3-AS2', 'score': 0.39}, {'connected_gene': 'WDFY3', 'score': 0.39}, {'connected_gene': 'GC04P085101', 'score': 0.13}]
chr4 GH04I085084 85084528 85085703 0.54 [{'connected_gene': 'WDFY3-AS2', 'score': 5.21}, {'connected_gene': 'GC04P085101', 'score': 0.37}, {'connected_gene': 'WDFY3', 'score': 0.13}]
chr4 GH04I084965 84965000 84967947 2 [{'connected_gene': 'WDFY3-AS2', 'score': 560.72}, {'connected_gene': 'WDFY3', 'score': 550.77}, {'connected_gene': 'GC04P085101', 'score': 0.12}]
chr4 GH04I084994 84994011 84994696 0.57 [{'connected_gene': 'WDFY3-AS2', 'score': 10.24}, {'connected_gene': 'WDFY3', 'score': 0.31}, {'connected_gene': 'GC04P085101', 'score': 0.14}]
chr4 GH04I084877 84876127 84876272 0.66 [{'connected_gene': 'WDFY3', 'score': 1.71}, {'connected_gene': 'RNU6-469P', 'score': 0.39}, {'connected_gene': 'WDFY3-AS1', 'score': 0.19}]
chr4 GH04I084391 84391572 84391952 0.33 [{'connected_gene': 'WDFY3', 'score': 4.65}, {'connected_gene': 'ENSG00000248749', 'score': 0.39}, {'connected_gene': 'GC04P084474', 'score': 0.18}]
chr4 GH04I084958 84958200 84958800 0.46 [{'connected_gene': 'CDS1', 'score': 10.27}, {'connected_gene': 'WDFY3-AS2', 'score': 0.44}, {'connected_gene': 'WDFY3', 'score': 0.44}, {'connected_gene': 'RNU6-469P', 'score': 0.19}]
chr4 GH04I084924 84924568 84924717 0.59 [{'connected_gene': 'RNU6-469P', 'score': 11.32}, {'connected_gene': 'WDFY3-AS2', 'score': 0.26}, {'connected_gene': 'WDFY3', 'score': 0.26}]
chr4 GH04I084855 84855800 84856200 0.31 [{'connected_gene': 'RNU6-469P', 'score': 0.29}, {'connected_gene': 'WDFY3-AS1', 'score': 0.23}, {'connected_gene': 'WDFY3', 'score': 0.14}]
chr4 GH04I084869 84869924 84871561 0.9 [{'connected_gene': 'RNU6-469P', 'score': 0.37}, {'connected_gene': 'WDFY3-AS1', 'score': 0.2}, {'connected_gene': 'WDFY3', 'score': 0.15}]
chr4 GH04I084856 84856601 84856800 0.38 [{'connected_gene': 'RNU6-469P', 'score': 0.31}, {'connected_gene': 'WDFY3-AS1', 'score': 0.23}, {'connected_gene': 'WDFY3', 'score': 0.14}]
chr4 GH04I084673 84673588 84673757 0.31 [{'connected_gene': 'RN7SL552P', 'score': 0.39}, {'connected_gene': 'PIR31866', 'score': 0.37}, {'connected_gene': 'WDFY3', 'score': 0.06}]
chr4 GH04I084956 84956201 84956400 0.38 [{'connected_gene': 'WDFY3-AS1', 'score': 10.24}, {'connected_gene': 'WDFY3-AS2', 'score': 0.44}, {'connected_gene': 'WDFY3', 'score': 0.39}, {'connected_gene': 'RNU6-469P', 'score': 0.2}]
chr4 GH04I084799 84799855 84801140 0.31 [{'connected_gene': 'WDFY3-AS1', 'score': 0.77}, {'connected_gene': 'PIR54500', 'score': 0.14}, {'connected_gene': 'WDFY3', 'score': 0.1}]
chr4 GH04I084792 84792468 84792617 0.46 [{'connected_gene': 'WDFY3-AS1', 'score': 0.39}, {'connected_gene': 'PIR54500', 'score': 0.15}, {'connected_gene': 'WDFY3', 'score': 0.09}]
chr4 GH04I084753 84753254 84754200 0.2 [{'connected_gene': 'WDFY3-AS1', 'score': 0.25}, {'connected_gene': 'PIR54500', 'score': 0.21}, {'connected_gene': 'WDFY3', 'score': 0.08}]
chr4 GH04I084680 84680798 84684523 0.89 [{'connected_gene': 'WDFY3-AS1', 'score': 10.66}, {'connected_gene': 'CDS1', 'score': 10.35}, {'connected_gene': 'WDFY3-AS2', 'score': 10.04}, {'connected_gene': 'RN7SL552P', 'score': 0.44}, {'connected_gene': 'PIR31866', 'score': 0.31}, {'connected_gene': 'WDFY3', 'score': 0.06}]
chr4 GH04I084876 84876688 84880471 0.96 [{'connected_gene': 'WDFY3-AS1', 'score': 10.29}, {'connected_gene': 'RNU6-469P', 'score': 0.44}, {'connected_gene': 'WDFY3', 'score': 0.17}]
chr4 GH04I084813 84813844 84815542 0.97 [{'connected_gene': 'WDFY3-AS1', 'score': 0.39}, {'connected_gene': 'RNU6-469P', 'score': 0.19}, {'connected_gene': 'WDFY3', 'score': 0.1}]
chr4 GH04I085039 85039484 85040180 0.38 [{'connected_gene': 'GC04P085101', 'score': 0.21}, {'connected_gene': 'WDFY3', 'score': 0.19}]
chr4 GH04I084690 84690363 84692423 0.85 [{'connected_gene': 'PIR54500', 'score': 550.77}, {'connected_gene': 'CDS1', 'score': 10.94}, {'connected_gene': 'WDFY3-AS1', 'score': 10.5}, {'connected_gene': 'WDFY3-AS2', 'score': 6.59}, {'connected_gene': 'WDFY3', 'score': 0.06}]

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