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
ENST00000381166 [[73704204, 73704300], [73706480, 73706540], [73711351, 73711467], [73712343, 73712404], [73712780, 73712883], [73716691, 73716822], [73717614, 73717738], [73718193, 73718274], [73718371, 73718544], [73718725, 73718849], [73719356, 73719483], [73720461, 73720669], [73721220, 73721403], [73721584, 73721726], [73725686, 73725767], [73725976, 73726253], [73727416, 73727537], [73727863, 73728002], [73729057, 73729535], [73730352, 73730490], [73730918, 73731043], [73731295, 73731434], [73732077, 73732215], [73739202, 73741345]] [[73706486, 73706540], [73711351, 73711467], [73712343, 73712404], [73712780, 73712883], [73716691, 73716822], [73717614, 73717738], [73718193, 73718274], [73718371, 73718544], [73718725, 73718849], [73719356, 73719483], [73720461, 73720669], [73721220, 73721403], [73721584, 73721726], [73725686, 73725767], [73725976, 73726253], [73727416, 73727537], [73727863, 73728002], [73729057, 73729535], [73730352, 73730490], [73730918, 73731043], [73731295, 73731434], [73732077, 73732215], [73739202, 73739269]]
ENST00000427855 [[73704204, 73704300], [73706480, 73706540], [73711351, 73711467], [73712343, 73712404], [73712780, 73712883], [73716691, 73716822], [73717614, 73717738], [73718193, 73718274], [73718371, 73718544], [73718725, 73718849], [73719356, 73719483], [73720461, 73720669], [73721220, 73721403], [73721584, 73721726], [73725686, 73725767], [73725976, 73726253], [73727416, 73727537], [73727863, 73728002], [73729057, 73729535], [73730352, 73730490], [73730918, 73731043], [73731295, 73731434], [73732077, 73732215], [73733208, 73733336], [73733430, 73733539], [73735264, 73735431], [73739202, 73741345]] [[73706486, 73706540], [73711351, 73711467], [73712343, 73712404], [73712780, 73712883], [73716691, 73716822], [73717614, 73717738], [73718193, 73718274], [73718371, 73718544], [73718725, 73718849], [73719356, 73719483], [73720461, 73720669], [73721220, 73721403], [73721584, 73721726], [73725686, 73725767], [73725976, 73726253], [73727416, 73727537], [73727863, 73728002], [73729057, 73729535], [73730352, 73730490], [73730918, 73731043], [73731295, 73731434], [73732077, 73732215], [73733208, 73733336], [73733430, 73733539], [73735264, 73735431], [73739202, 73739372]]
ENST00000340738 [[73704204, 73704300], [73706480, 73706540], [73711351, 73711467], [73712343, 73712404], [73712780, 73712883], [73716691, 73716822], [73717614, 73717738], [73718371, 73718544], [73718725, 73718849], [73719356, 73719483], [73720461, 73720669], [73721220, 73721403], [73721584, 73721726], [73725686, 73725767], [73725976, 73726253], [73727416, 73727537], [73727863, 73728002], [73729057, 73729535], [73730352, 73730490], [73730918, 73731043], [73731295, 73731434], [73732077, 73732215], [73733208, 73733336], [73733430, 73733539], [73735264, 73735431], [73739202, 73741348]] [[73706486, 73706540], [73711351, 73711467], [73712343, 73712404], [73712780, 73712883], [73716691, 73716822], [73717614, 73717738], [73718371, 73718544], [73718725, 73718849], [73719356, 73719483], [73720461, 73720669], [73721220, 73721403], [73721584, 73721726], [73725686, 73725767], [73725976, 73726253], [73727416, 73727537], [73727863, 73728002], [73729057, 73729535], [73730352, 73730490], [73730918, 73731043], [73731295, 73731434], [73732077, 73732215], [73733208, 73733336], [73733430, 73733539], [73735264, 73735431], [73739202, 73739372]]
ENST00000555123 [[73704286, 73704300], [73706480, 73706540], [73711351, 73711467], [73712343, 73712404], [73712780, 73712883], [73716691, 73716822], [73717614, 73717738], [73718371, 73718544], [73718725, 73718849], [73719356, 73719483], [73720461, 73720669], [73721220, 73721403], [73721584, 73721726], [73725686, 73725767], [73725976, 73726253], [73727416, 73727537], [73727863, 73728002], [73729057, 73729535], [73730352, 73730490], [73730717, 73730752], [73730918, 73731043], [73731295, 73731434], [73732077, 73732215], [73739202, 73740073]] [[73706486, 73706540], [73711351, 73711467], [73712343, 73712404], [73712780, 73712883], [73716691, 73716822], [73717614, 73717738], [73718371, 73718544], [73718725, 73718849], [73719356, 73719483], [73720461, 73720669], [73721220, 73721403], [73721584, 73721726], [73725686, 73725767], [73725976, 73726253], [73727416, 73727537], [73727863, 73728002], [73729057, 73729535], [73730352, 73730490], [73730717, 73730727]]
ENST00000216658 [[73704287, 73704300], [73706480, 73706540], [73711351, 73711467], [73712343, 73712404], [73712780, 73712883], [73716691, 73716822], [73717614, 73717738], [73718193, 73718274], [73718371, 73718544], [73718725, 73718849], [73719356, 73719483], [73720461, 73720669], [73721220, 73721403], [73721584, 73721726], [73725686, 73725767], [73725976, 73726253], [73727416, 73727537], [73727863, 73728002], [73730352, 73730490], [73730649, 73730752], [73730918, 73731043], [73731295, 73731434], [73732077, 73732215], [73733208, 73733336], [73733430, 73733539], [73735264, 73735431], [73739202, 73740073]] [[73706486, 73706540], [73711351, 73711467], [73712343, 73712404], [73712780, 73712883], [73716691, 73716822], [73717614, 73717738], [73718193, 73718274], [73718371, 73718544], [73718725, 73718849], [73719356, 73719483], [73720461, 73720669], [73721220, 73721403], [73721584, 73721726], [73725686, 73725767], [73725976, 73726253], [73727416, 73727537], [73727863, 73728002], [73730352, 73730490], [73730649, 73730693]]
ENST00000554301 [[73706323, 73706540], [73711351, 73711467], [73712343, 73712404], [73712780, 73712883], [73716691, 73716822], [73717614, 73717738], [73718193, 73718274], [73718371, 73718544], [73718725, 73718849], [73719356, 73719483], [73720461, 73720669], [73721220, 73721403], [73721584, 73721726], [73725686, 73725767], [73725976, 73726253], [73727416, 73727537], [73727863, 73728002], [73729057, 73729535], [73730352, 73730490], [73730918, 73731043], [73731295, 73731434], [73732077, 73732215], [73733208, 73733336], [73733430, 73733539], [73735264, 73735431], [73739202, 73739462]] [[73706486, 73706540], [73711351, 73711467], [73712343, 73712404], [73712780, 73712883], [73716691, 73716822], [73717614, 73717738], [73718193, 73718274], [73718371, 73718544], [73718725, 73718849], [73719356, 73719483], [73720461, 73720669], [73721220, 73721403], [73721584, 73721726], [73725686, 73725767], [73725976, 73726253], [73727416, 73727537], [73727863, 73728002], [73729057, 73729535], [73730352, 73730490], [73730918, 73731043], [73731295, 73731434], [73732077, 73732215], [73733208, 73733336], [73733430, 73733539], [73735264, 73735431], [73739202, 73739372]]
ENST00000555445 [[73706332, 73706540], [73711351, 73711467], [73712343, 73712404], [73712780, 73712883], [73716691, 73716822], [73717614, 73717738], [73718193, 73718274], [73718371, 73718544], [73718725, 73718849], [73719356, 73719483], [73720461, 73720669], [73721220, 73721403], [73721584, 73721726], [73725686, 73725767], [73725976, 73726253], [73727416, 73727537], [73727863, 73728002], [73729105, 73729535], [73730352, 73730490], [73730918, 73731043], [73731295, 73731434], [73732077, 73732215], [73733208, 73733336], [73733430, 73733539], [73735264, 73735431], [73739202, 73739711]] [[73706486, 73706540], [73711351, 73711467], [73712343, 73712404], [73712780, 73712883], [73716691, 73716822], [73717614, 73717738], [73718193, 73718274], [73718371, 73718544], [73718725, 73718849], [73719356, 73719483], [73720461, 73720669], [73721220, 73721403], [73721584, 73721726], [73725686, 73725767], [73725976, 73726253], [73727416, 73727537], [73727863, 73728002], [73729105, 73729535], [73730352, 73730490], [73730918, 73731043], [73731295, 73731434], [73732077, 73732215], [73733208, 73733336], [73733430, 73733539], [73735264, 73735431], [73739202, 73739372]]
ENST00000555035 [[73716483, 73716822], [73717614, 73717726]] None
ENST00000557061 [[73727863, 73728002], [73729057, 73729535], [73730330, 73730490], [73730918, 73731043], [73731295, 73731434], [73732077, 73732215], [73733208, 73733336], [73733430, 73733539], [73735264, 73735431], [73739202, 73741328]] [[73727863, 73728002], [73729057, 73729535], [73730330, 73730358]]
ENST00000554314 [[73727873, 73728002], [73729057, 73729535], [73730964, 73731043], [73731263, 73731284]] None
ENST00000555700 [[73728757, 73730490], [73730918, 73731043], [73731295, 73731434], [73732077, 73732215], [73733208, 73733336], [73733430, 73733539], [73735264, 73735431], [73739202, 73741331]] None
ENST00000559759 [[73729207, 73729535], [73730352, 73730490], [73730918, 73731043], [73731295, 73731434], [73732077, 73732215], [73739202, 73741328]] [[73729207, 73729535], [73730352, 73730490], [73730918, 73731043], [73731295, 73731434], [73732077, 73732215], [73739202, 73739269]]
ENST00000554527 [[73735086, 73735431], [73739202, 73739641]] None
NM_173462 [[73704204, 73704300], [73706480, 73706540], [73711351, 73711467], [73712343, 73712404], [73712780, 73712883], [73716691, 73716822], [73717614, 73717738], [73718371, 73718544], [73718725, 73718849], [73719356, 73719483], [73720461, 73720669], [73721220, 73721403], [73721584, 73721726], [73725686, 73725767], [73725976, 73726253], [73727416, 73727537], [73727863, 73728002], [73729057, 73729535], [73730352, 73730490], [73730918, 73731043], [73731295, 73731434], [73732077, 73732215], [73733208, 73733336], [73733430, 73733539], [73735264, 73735431], [73739202, 73741348]] [[73706486, 73706540], [73711351, 73711467], [73712343, 73712404], [73712780, 73712883], [73716691, 73716822], [73717614, 73717738], [73718371, 73718544], [73718725, 73718849], [73719356, 73719483], [73720461, 73720669], [73721220, 73721403], [73721584, 73721726], [73725686, 73725767], [73725976, 73726253], [73727416, 73727537], [73727863, 73728002], [73729057, 73729535], [73730352, 73730490], [73730918, 73731043], [73731295, 73731434], [73732077, 73732215], [73733208, 73733336], [73733430, 73733539], [73735264, 73735431], [73739202, 73739372]]
Promoter
Chrom Start End Description
chr14 73704201 73704277 CAGE_peak_1_at_PAPLN_5end
chr14 73706308 73706331 CAGE_peak_2_at_PAPLN_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I073169 73169973 73170122 0.58 [{'connected_gene': 'PAPLN', 'score': 11.35}, {'connected_gene': 'NUMB', 'score': 10.41}, {'connected_gene': 'ENSG00000259109', 'score': 0.37}, {'connected_gene': 'PSEN1', 'score': 0.29}]
chr14 GH14I073170 73170373 73170662 0.4 [{'connected_gene': 'PAPLN', 'score': 11.35}, {'connected_gene': 'NUMB', 'score': 10.41}, {'connected_gene': 'ENSG00000259109', 'score': 0.37}, {'connected_gene': 'PSEN1', 'score': 0.29}]
chr14 GH14I073173 73173233 73173322 0.76 [{'connected_gene': 'PAPLN', 'score': 11.36}, {'connected_gene': 'NUMB', 'score': 10.41}, {'connected_gene': 'ENSG00000259109', 'score': 0.37}, {'connected_gene': 'PSEN1', 'score': 0.28}]
chr14 GH14I073178 73178760 73182269 1.09 [{'connected_gene': 'PAPLN', 'score': 18.12}, {'connected_gene': 'PSEN1', 'score': 13.96}, {'connected_gene': 'RNU6-419P', 'score': 10.77}, {'connected_gene': 'NUMB', 'score': 10.11}, {'connected_gene': 'LOC101928123', 'score': 7.68}, {'connected_gene': 'ENSG00000259109', 'score': 0.44}]
chr14 GH14I073269 73269579 73270851 0.84 [{'connected_gene': 'PAPLN', 'score': 11.52}, {'connected_gene': 'PSEN1', 'score': 10.62}, {'connected_gene': 'ENSG00000258695', 'score': 9.74}, {'connected_gene': 'PIR32428', 'score': 0.77}, {'connected_gene': 'RNU6-419P', 'score': 0.34}]
chr14 GH14I073240 73240601 73241400 0.52 [{'connected_gene': 'PAPLN', 'score': 19.53}, {'connected_gene': 'PSEN1', 'score': 10.93}, {'connected_gene': 'LOC101928123', 'score': 8.27}]
chr14 GH14I073140 73140277 73141817 0.43 [{'connected_gene': 'PAPLN', 'score': 10.58}, {'connected_gene': 'ZFYVE1', 'score': 9.98}, {'connected_gene': 'PSEN1', 'score': 0.77}, {'connected_gene': 'ENSG00000259109', 'score': 0.25}]
chr14 GH14I073176 73176257 73178010 0.56 [{'connected_gene': 'PAPLN', 'score': 10.83}, {'connected_gene': 'RNU6-419P', 'score': 10.77}, {'connected_gene': 'NUMB', 'score': 10.12}, {'connected_gene': 'LOC101928123', 'score': 7.68}, {'connected_gene': 'PSEN1', 'score': 7.45}, {'connected_gene': 'ENSG00000259109', 'score': 0.39}]
chr14 GH14I073234 73234589 73239300 2.09 [{'connected_gene': 'PAPLN', 'score': 550.77}, {'connected_gene': 'LOC101928123', 'score': 38.35}, {'connected_gene': 'ZNF410', 'score': 22.82}, {'connected_gene': 'RBM25', 'score': 13.54}, {'connected_gene': 'NUMB', 'score': 12.43}, {'connected_gene': 'LOC100420966', 'score': 11.74}, {'connected_gene': 'PSEN1', 'score': 11.53}, {'connected_gene': 'ENSG00000258891', 'score': 11.42}, {'connected_gene': 'DCAF4', 'score': 9.25}]
chr14 GH14I073242 73242401 73243000 0.74 [{'connected_gene': 'PAPLN', 'score': 19.49}, {'connected_gene': 'LOC101928123', 'score': 5.38}]
chr14 GH14I073239 73239493 73239642 0.46 [{'connected_gene': 'PAPLN', 'score': 0.77}, {'connected_gene': 'LOC101928123', 'score': 0.44}]
chr14 GH14I073264 73264057 73265189 0.2 [{'connected_gene': 'NUMB', 'score': 14.65}, {'connected_gene': 'PAPLN', 'score': 12.82}, {'connected_gene': 'LOC101928123', 'score': 5.03}, {'connected_gene': 'PIR32428', 'score': 0.44}, {'connected_gene': 'RNU6-419P', 'score': 0.37}]
chr14 GH14I073233 73233153 73233302 0.52 [{'connected_gene': 'NUMB', 'score': 10.55}, {'connected_gene': 'GC14P073229', 'score': 0.77}, {'connected_gene': 'PIR53719', 'score': 0.77}, {'connected_gene': 'PAPLN', 'score': 0.77}]
chr14 GH14I073231 73231709 73232949 0.8 [{'connected_gene': 'NUMB', 'score': 10.55}, {'connected_gene': 'DCAF4', 'score': 9.3}, {'connected_gene': 'LOC101928123', 'score': 8.22}, {'connected_gene': 'GC14P073229', 'score': 0.77}, {'connected_gene': 'PIR53719', 'score': 0.77}, {'connected_gene': 'PAPLN', 'score': 0.77}]
chr14 GH14I073286 73286653 73286882 0.31 [{'connected_gene': 'NUMB', 'score': 15.28}, {'connected_gene': 'RNU6-419P', 'score': 11.76}, {'connected_gene': 'PAPLN', 'score': 10.76}, {'connected_gene': 'NT5CP2', 'score': 6.35}, {'connected_gene': 'ENSG00000258944', 'score': 0.39}, {'connected_gene': 'GC14P073395', 'score': 0.14}]
chr14 GH14I073296 73295820 73297470 0.75 [{'connected_gene': 'NUMB', 'score': 16.7}, {'connected_gene': 'RNU6-419P', 'score': 12.35}, {'connected_gene': 'ENSG00000251393', 'score': 11.15}, {'connected_gene': 'PAPLN', 'score': 10.92}, {'connected_gene': 'PTGR2', 'score': 9.69}, {'connected_gene': 'ENSG00000223300', 'score': 9.69}, {'connected_gene': 'ENSG00000258944', 'score': 0.34}, {'connected_gene': 'GC14P073395', 'score': 0.15}]
chr14 GH14I073295 73295313 73295462 0.56 [{'connected_gene': 'NUMB', 'score': 15.69}, {'connected_gene': 'RNU6-419P', 'score': 11.34}, {'connected_gene': 'PAPLN', 'score': 10.93}, {'connected_gene': 'ENSG00000251393', 'score': 10.31}, {'connected_gene': 'ENSG00000258944', 'score': 0.34}, {'connected_gene': 'GC14P073395', 'score': 0.15}]
chr14 GH14I072903 72903440 72908416 1.59 [{'connected_gene': 'RBM25', 'score': 27.02}, {'connected_gene': 'ZNF410', 'score': 25.28}, {'connected_gene': 'DCAF4', 'score': 24.42}, {'connected_gene': 'ELMSAN1', 'score': 24.13}, {'connected_gene': 'PSEN1', 'score': 11.59}, {'connected_gene': 'NUMB', 'score': 11.48}, {'connected_gene': 'LOC100420966', 'score': 10.71}, {'connected_gene': 'LOC101928123', 'score': 9.4}, {'connected_gene': 'DPF3', 'score': 5.75}, {'connected_gene': 'PAPLN', 'score': 4.59}]
chr14 GH14I073057 73057146 73060102 2.08 [{'connected_gene': 'RBM25', 'score': 581.03}, {'connected_gene': 'LOC105370560', 'score': 550.77}, {'connected_gene': 'ZNF410', 'score': 30.49}, {'connected_gene': 'ELMSAN1', 'score': 27.93}, {'connected_gene': 'LOC101928123', 'score': 21.36}, {'connected_gene': 'NUMB', 'score': 20.78}, {'connected_gene': 'LOC100420966', 'score': 19.92}, {'connected_gene': 'ZFYVE1', 'score': 11.26}, {'connected_gene': 'PAPLN', 'score': 9.67}, {'connected_gene': 'DCAF4', 'score': 9.26}, {'connected_gene': 'PSEN1', 'score': 8.62}, {'connected_gene': 'ACOT1', 'score': 5.11}]
chr14 GH14I073135 73135818 73138240 1.98 [{'connected_gene': 'PSEN1', 'score': 550.77}, {'connected_gene': 'RBM25', 'score': 39.0}, {'connected_gene': 'ELMSAN1', 'score': 24.43}, {'connected_gene': 'LOC101928123', 'score': 18.13}, {'connected_gene': 'PNMA1', 'score': 16.56}, {'connected_gene': 'ENSG00000258891', 'score': 15.26}, {'connected_gene': 'DNAL1', 'score': 15.16}, {'connected_gene': 'LIN52', 'score': 13.69}, {'connected_gene': 'ZNF410', 'score': 11.99}, {'connected_gene': 'ENSG00000258443', 'score': 11.91}, {'connected_gene': 'PAPLN', 'score': 10.58}, {'connected_gene': 'ENSG00000258695', 'score': 9.8}, {'connected_gene': 'ZFYVE1', 'score': 9.74}, {'connected_gene': 'DCAF4', 'score': 8.76}, {'connected_gene': 'ACOT1', 'score': 3.99}, {'connected_gene': 'ENSG00000259109', 'score': 0.23}]
chr14 GH14I073284 73283922 73284762 0.52 [{'connected_gene': 'RNU6-419P', 'score': 11.56}, {'connected_gene': 'PAPLN', 'score': 11.04}, {'connected_gene': 'NUMB', 'score': 10.46}, {'connected_gene': 'ENSG00000251393', 'score': 10.42}, {'connected_gene': 'ENSG00000258944', 'score': 0.39}, {'connected_gene': 'GC14P073395', 'score': 0.14}]
chr14 GH14I073287 73287067 73287782 0.2 [{'connected_gene': 'RNU6-419P', 'score': 11.75}, {'connected_gene': 'PAPLN', 'score': 10.76}, {'connected_gene': 'NUMB', 'score': 10.54}, {'connected_gene': 'ENSG00000258944', 'score': 0.39}, {'connected_gene': 'GC14P073395', 'score': 0.14}]
chr14 GH14I073283 73283673 73283862 0.31 [{'connected_gene': 'RNU6-419P', 'score': 11.56}, {'connected_gene': 'PAPLN', 'score': 11.04}, {'connected_gene': 'NUMB', 'score': 10.46}, {'connected_gene': 'ENSG00000251393', 'score': 10.42}, {'connected_gene': 'ENSG00000258944', 'score': 0.44}, {'connected_gene': 'GC14P073395', 'score': 0.14}]
chr14 GH14I073209 73209692 73210702 0.43 [{'connected_gene': 'RNU6-419P', 'score': 11.86}, {'connected_gene': 'PAPLN', 'score': 11.8}, {'connected_gene': 'ACOT1', 'score': 4.49}, {'connected_gene': 'GC14P073223', 'score': 0.39}, {'connected_gene': 'ENSG00000259109', 'score': 0.34}, {'connected_gene': 'PSEN1', 'score': 0.19}]
chr14 GH14I073248 73248653 73248802 0.49 [{'connected_gene': 'RNU6-419P', 'score': 550.77}, {'connected_gene': 'PAPLN', 'score': 0.39}, {'connected_gene': 'PIR32428', 'score': 0.34}]
chr14 GH14I073289 73289833 73289982 0.2 [{'connected_gene': 'RNU6-419P', 'score': 11.52}, {'connected_gene': 'NUMB', 'score': 11.19}, {'connected_gene': 'ENSG00000251393', 'score': 10.96}, {'connected_gene': 'PAPLN', 'score': 10.94}, {'connected_gene': 'ENSG00000258944', 'score': 0.37}, {'connected_gene': 'GC14P073395', 'score': 0.14}]
chr14 GH14I073247 73247274 73248352 0.9 [{'connected_gene': 'LOC101928123', 'score': 560.94}, {'connected_gene': 'RNU6-419P', 'score': 550.77}, {'connected_gene': 'ZNF410', 'score': 30.02}, {'connected_gene': 'ELMSAN1', 'score': 28.24}, {'connected_gene': 'RBM25', 'score': 25.93}, {'connected_gene': 'NUMB', 'score': 20.2}, {'connected_gene': 'LOC100420966', 'score': 19.43}, {'connected_gene': 'PSEN1', 'score': 9.32}, {'connected_gene': 'DCAF4', 'score': 6.41}, {'connected_gene': 'PAPLN', 'score': 0.39}, {'connected_gene': 'PIR32428', 'score': 0.31}]
chr14 GH14I073245 73245600 73246801 1.26 [{'connected_gene': 'LOC101928123', 'score': 567.61}, {'connected_gene': 'RNU6-419P', 'score': 550.77}, {'connected_gene': 'PSEN1', 'score': 10.72}, {'connected_gene': 'PAPLN', 'score': 0.39}]

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