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
ENST00000361354 [[183773842, 183790546], [183791543, 183791633], [183792844, 183792954], [183793510, 183793627], [183795422, 183795516], [183799479, 183799560], [183800020, 183800103], [183806797, 183806891], [183817132, 183817230], [183817520, 183817651], [183817840, 183818059], [183821189, 183821321], [183822184, 183822324], [183826886, 183827006], [183829403, 183829536], [183831943, 183832089], [183841620, 183841679], [183843561, 183843643], [183845971, 183846104], [183847548, 183847655], [183848013, 183848110], [183850898, 183850955], [183853757, 183853914], [183859566, 183859615], [183860428, 183860566], [183866680, 183866771], [183866854, 183866997], [183867701, 183867758], [183867960, 183868053], [183888533, 183888644], [183902719, 183903200]] [[183790429, 183790546], [183791543, 183791633], [183792844, 183792954], [183793510, 183793627], [183795422, 183795516], [183799479, 183799560], [183800020, 183800103], [183806797, 183806891], [183817132, 183817230], [183817520, 183817651], [183817840, 183818059], [183821189, 183821321], [183822184, 183822324], [183826886, 183827006], [183829403, 183829536], [183831943, 183832089], [183841620, 183841679], [183843561, 183843643], [183845971, 183846104], [183847548, 183847655], [183848013, 183848110], [183850898, 183850955], [183853757, 183853914], [183859566, 183859615], [183860428, 183860566], [183866680, 183866771], [183866854, 183866997], [183867701, 183867758], [183867960, 183868053], [183888533, 183888644], [183902719, 183902827]]
ENST00000360982 [[183789604, 183790546], [183791543, 183791633], [183792844, 183792954], [183793510, 183793627], [183795422, 183795516], [183799479, 183799560], [183800020, 183800103], [183806797, 183806891], [183817132, 183817230], [183817520, 183817651], [183817840, 183818059], [183821189, 183821321], [183822184, 183822324], [183826886, 183827006], [183829403, 183829536], [183831943, 183832089], [183841620, 183841679], [183843561, 183843643], [183845971, 183846104], [183847548, 183847655], [183848013, 183848110], [183850898, 183850955], [183853757, 183853914], [183859566, 183859615], [183860428, 183860566], [183866680, 183866771], [183866854, 183866997], [183867701, 183867758], [183867960, 183868053], [183888533, 183888644], [183889705, 183889723], [183902719, 183903586]] [[183790429, 183790546], [183791543, 183791633], [183792844, 183792954], [183793510, 183793627], [183795422, 183795516], [183799479, 183799560], [183800020, 183800103], [183806797, 183806891], [183817132, 183817230], [183817520, 183817651], [183817840, 183818059], [183821189, 183821321], [183822184, 183822324], [183826886, 183827006], [183829403, 183829536], [183831943, 183832089], [183841620, 183841679], [183843561, 183843643], [183845971, 183846104], [183847548, 183847655], [183848013, 183848110], [183850898, 183850955], [183853757, 183853914], [183859566, 183859615], [183860428, 183860566], [183866680, 183866771], [183866854, 183866997], [183867701, 183867758], [183867960, 183868053], [183888533, 183888644], [183889705, 183889723], [183902719, 183902827]]
ENST00000477988 [[183790384, 183790546], [183791543, 183791993]] None
ENST00000478449 [[183792846, 183792954], [183793510, 183793627], [183795422, 183795516], [183799479, 183799560], [183800020, 183800103], [183806797, 183806891], [183811754, 183811890]] None
ENST00000471640 [[183795452, 183795516], [183799479, 183799560], [183799992, 183800103], [183806797, 183806847]] None
ENST00000492058 [[183799129, 183799560], [183800020, 183800231]] None
ENST00000493359 [[183818027, 183818059], [183821189, 183821772]] None
ENST00000495619 [[183821868, 183822324], [183826886, 183827006], [183829403, 183829492]] None
NM_205842 [[183789578, 183790546], [183791543, 183791633], [183792844, 183792954], [183793510, 183793627], [183795422, 183795516], [183799479, 183799560], [183800020, 183800103], [183806797, 183806891], [183817132, 183817230], [183817520, 183817651], [183817840, 183818059], [183821189, 183821321], [183822184, 183822324], [183826886, 183827006], [183829403, 183829536], [183831943, 183832089], [183841620, 183841679], [183843561, 183843643], [183845971, 183846104], [183847548, 183847655], [183848013, 183848110], [183850898, 183850955], [183853757, 183853914], [183859566, 183859615], [183860428, 183860566], [183866680, 183866771], [183866854, 183866997], [183867701, 183867758], [183867960, 183868053], [183888533, 183888644], [183889705, 183889723], [183902719, 183903586]] [[183790429, 183790546], [183791543, 183791633], [183792844, 183792954], [183793510, 183793627], [183795422, 183795516], [183799479, 183799560], [183800020, 183800103], [183806797, 183806891], [183817132, 183817230], [183817520, 183817651], [183817840, 183818059], [183821189, 183821321], [183822184, 183822324], [183826886, 183827006], [183829403, 183829536], [183831943, 183832089], [183841620, 183841679], [183843561, 183843643], [183845971, 183846104], [183847548, 183847655], [183848013, 183848110], [183850898, 183850955], [183853757, 183853914], [183859566, 183859615], [183860428, 183860566], [183866680, 183866771], [183866854, 183866997], [183867701, 183867758], [183867960, 183868053], [183888533, 183888644], [183889705, 183889723], [183902719, 183902827]]
NM_013436 [[183789578, 183790546], [183791543, 183791633], [183792844, 183792954], [183793510, 183793627], [183795422, 183795516], [183799479, 183799560], [183800020, 183800103], [183806797, 183806891], [183817132, 183817230], [183817520, 183817651], [183817840, 183818059], [183821189, 183821321], [183822184, 183822324], [183826886, 183827006], [183829403, 183829536], [183831943, 183832089], [183841620, 183841679], [183843561, 183843643], [183845971, 183846104], [183847548, 183847655], [183848013, 183848110], [183850898, 183850955], [183853757, 183853914], [183859566, 183859615], [183860428, 183860566], [183866680, 183866771], [183866854, 183866997], [183867701, 183867758], [183867960, 183868053], [183888533, 183888644], [183902719, 183903586]] [[183790429, 183790546], [183791543, 183791633], [183792844, 183792954], [183793510, 183793627], [183795422, 183795516], [183799479, 183799560], [183800020, 183800103], [183806797, 183806891], [183817132, 183817230], [183817520, 183817651], [183817840, 183818059], [183821189, 183821321], [183822184, 183822324], [183826886, 183827006], [183829403, 183829536], [183831943, 183832089], [183841620, 183841679], [183843561, 183843643], [183845971, 183846104], [183847548, 183847655], [183848013, 183848110], [183850898, 183850955], [183853757, 183853914], [183859566, 183859615], [183860428, 183860566], [183866680, 183866771], [183866854, 183866997], [183867701, 183867758], [183867960, 183868053], [183888533, 183888644], [183902719, 183902827]]
Promoter
Chrom Start End Description
chr2 183902750 183902761 CAGE_peak_4_at_NCKAP1_5end
chr2 183903019 183903085 CAGE_peak_2_at_NCKAP1_5end
chr2 183903133 183903210 CAGE_peak_1_at_NCKAP1_5end
chr2 183903215 183903234 CAGE_peak_3_at_NCKAP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I182714 182714696 182718639 2.07 [{'connected_gene': 'DNAJC10', 'score': 550.77}, {'connected_gene': 'NCKAP1', 'score': 13.08}, {'connected_gene': 'NUP35', 'score': 10.54}, {'connected_gene': 'PDE1A', 'score': 10.03}, {'connected_gene': 'FRZB', 'score': 7.0}, {'connected_gene': 'GC02P182762', 'score': 0.25}]
chr2 GH02I182906 182906913 182907958 0.68 [{'connected_gene': 'FRZB', 'score': 17.92}, {'connected_gene': 'NCKAP1', 'score': 4.71}, {'connected_gene': 'GC02M182883', 'score': 0.77}, {'connected_gene': 'RNU6-1122P', 'score': 0.29}]
chr2 GH02I182914 182914555 182916694 0.83 [{'connected_gene': 'FRZB', 'score': 10.95}, {'connected_gene': 'NCKAP1', 'score': 4.68}, {'connected_gene': 'GC02M182883', 'score': 0.77}, {'connected_gene': 'GC02M183023', 'score': 0.14}, {'connected_gene': 'ENSG00000202141', 'score': 0.14}]
chr2 GH02I182948 182948862 182950453 0.9 [{'connected_gene': 'FRZB', 'score': 7.02}, {'connected_gene': 'GC02M182883', 'score': 0.28}, {'connected_gene': 'GC02M183023', 'score': 0.19}, {'connected_gene': 'ENSG00000202141', 'score': 0.19}, {'connected_gene': 'NCKAP1', 'score': 0.17}]
chr2 GH02I183010 183010104 183010962 1.12 [{'connected_gene': 'FRZB', 'score': 8.86}, {'connected_gene': 'GC02M183023', 'score': 0.39}, {'connected_gene': 'ENSG00000202141', 'score': 0.39}, {'connected_gene': 'NCKAP1', 'score': 0.31}, {'connected_gene': 'GC02M182883', 'score': 0.15}]
chr2 GH02I183056 183056503 183059010 0.62 [{'connected_gene': 'FRZB', 'score': 10.29}, {'connected_gene': 'NCKAP1', 'score': 4.73}, {'connected_gene': 'GC02P183062', 'score': 0.77}]
chr2 GH02I183019 183019540 183020482 0.2 [{'connected_gene': 'FRZB', 'score': 10.11}, {'connected_gene': 'GC02M183023', 'score': 0.77}, {'connected_gene': 'ENSG00000202141', 'score': 0.77}, {'connected_gene': 'NCKAP1', 'score': 0.37}, {'connected_gene': 'GC02M182883', 'score': 0.14}]
chr2 GH02I183048 183048135 183050969 0.43 [{'connected_gene': 'FRZB', 'score': 7.92}, {'connected_gene': 'NCKAP1', 'score': 5.15}, {'connected_gene': 'GC02P183062', 'score': 0.39}]
chr2 GH02I183078 183078001 183080049 2.03 [{'connected_gene': 'DUSP19', 'score': 558.04}, {'connected_gene': 'NCKAP1', 'score': 11.35}, {'connected_gene': 'NUP35', 'score': 11.3}, {'connected_gene': 'ENSG00000224643', 'score': 10.83}, {'connected_gene': 'FRZB', 'score': 6.0}]
chr2 GH02I183034 183034790 183039545 2.04 [{'connected_gene': 'NCKAP1', 'score': 555.34}, {'connected_gene': 'NUP35', 'score': 26.3}, {'connected_gene': 'DNAJC10', 'score': 10.58}, {'connected_gene': 'FRZB', 'score': 9.64}, {'connected_gene': 'GC02M183023', 'score': 0.39}, {'connected_gene': 'ENSG00000202141', 'score': 0.39}]
chr2 GH02I183033 183033229 183033263 0.33 [{'connected_gene': 'NCKAP1', 'score': 0.44}, {'connected_gene': 'GC02M183023', 'score': 0.39}, {'connected_gene': 'ENSG00000202141', 'score': 0.39}]
chr2 GH02I183059 183059371 183061412 0.98 [{'connected_gene': 'GC02P183062', 'score': 550.77}, {'connected_gene': 'FRZB', 'score': 8.07}, {'connected_gene': 'NCKAP1', 'score': 4.92}]
chr2 GH02I182920 182920613 182920782 0.38 [{'connected_gene': 'GC02M182883', 'score': 0.44}, {'connected_gene': 'GC02M183023', 'score': 0.15}, {'connected_gene': 'ENSG00000202141', 'score': 0.15}, {'connected_gene': 'NCKAP1', 'score': 0.13}]

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