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
ENST00000418115 [[49396577, 49397815], [49399928, 49400059], [49405860, 49405981], [49412866, 49413024], [49449252, 49449635]] [[49397641, 49397815], [49399928, 49400059], [49405860, 49405981], [49412866, 49413022]]
ENST00000454011 [[49397324, 49397815], [49399928, 49400059], [49412866, 49413024], [49449252, 49449361]] [[49399942, 49400059], [49412866, 49413022]]
ENST00000422781 [[49397554, 49397815], [49398360, 49398499], [49399928, 49400059], [49405860, 49405981], [49412866, 49413024], [49449252, 49449403]] [[49397798, 49397815], [49398360, 49398499], [49399928, 49400059], [49405860, 49405981], [49412866, 49413022]]
ENST00000445425 [[49399949, 49400059], [49405860, 49405981], [49412866, 49413024], [49444144, 49444239], [49449252, 49449401]] [[49399949, 49400059], [49405860, 49405981], [49412866, 49413022]]
ENST00000431929 [[49410672, 49410775], [49412866, 49413024], [49449252, 49449530]] [[49410672, 49410775], [49412866, 49413022]]
ENST00000265538 [[49449377, 49449551], [49449836, 49450035], [49450416, 49450431]] None
NM_001313941 [[49396568, 49397815], [49399928, 49400059], [49405860, 49405981], [49412866, 49413024], [49444144, 49444239], [49449252, 49449530]] [[49397641, 49397815], [49399928, 49400059], [49405860, 49405981], [49412866, 49413022]]
NM_001313943 [[49396568, 49397815], [49398360, 49398499], [49399928, 49400059], [49405860, 49405981], [49412866, 49413024], [49449252, 49449530]] [[49397798, 49397815], [49398360, 49398499], [49399928, 49400059], [49405860, 49405981], [49412866, 49413022]]
NM_001664 [[49396568, 49397815], [49399928, 49400059], [49405860, 49405981], [49412866, 49413024], [49449252, 49449530]] [[49397641, 49397815], [49399928, 49400059], [49405860, 49405981], [49412866, 49413022]]
NM_001313947 [[49396568, 49397815], [49399928, 49400059], [49412866, 49413024], [49449252, 49449530]] [[49399942, 49400059], [49412866, 49413022]]
NM_001313946 [[49396568, 49397815], [49412866, 49413024], [49449252, 49449530]] [[49397641, 49397815], [49412866, 49413022]]
NM_001313944 [[49396568, 49397815], [49399928, 49400059], [49405860, 49405948], [49412893, 49413024], [49449252, 49449530]] [[49397641, 49397815], [49399928, 49400059], [49405860, 49405948], [49412893, 49413022]]
NM_001313945 [[49396568, 49397815], [49399928, 49400059], [49405860, 49405981], [49412866, 49412926], [49449277, 49449530]] [[49397641, 49397815], [49399928, 49400059], [49405860, 49405894]]
Promoter
Chrom Start End Description
chr3 49412915 49412932 CAGE_peak_3_at_RHOA_5end
chr3 49449350 49449464 CAGE_peak_1_at_RHOA_5end
chr3 49449521 49449532 CAGE_peak_2_at_RHOA_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I049408 49408988 49409117 0.66 [{'connected_gene': 'USP4', 'score': 10.46}, {'connected_gene': 'C3orf62', 'score': 10.37}, {'connected_gene': 'CCDC71', 'score': 10.14}, {'connected_gene': 'KLHDC8B', 'score': 10.14}, {'connected_gene': 'TCTA', 'score': 0.77}, {'connected_gene': 'RHOA', 'score': 0.77}, {'connected_gene': 'RHOA-IT1', 'score': 0.26}]
chr3 GH03I049338 49338697 49353402 2.66 [{'connected_gene': 'USP4', 'score': 565.03}, {'connected_gene': 'AMT', 'score': 71.69}, {'connected_gene': 'QRICH1', 'score': 41.08}, {'connected_gene': 'ENSG00000235236', 'score': 38.82}, {'connected_gene': 'RBM6', 'score': 32.91}, {'connected_gene': 'ATRIP', 'score': 29.45}, {'connected_gene': 'RBM5', 'score': 29.3}, {'connected_gene': 'WDR6', 'score': 28.82}, {'connected_gene': 'IP6K2', 'score': 27.4}, {'connected_gene': 'ENSG00000230454', 'score': 23.04}, {'connected_gene': 'DALRD3', 'score': 17.18}, {'connected_gene': 'RHOA', 'score': 16.73}, {'connected_gene': 'NICN1', 'score': 15.66}, {'connected_gene': 'SEMA3F-AS1', 'score': 14.61}, {'connected_gene': 'USP19', 'score': 14.04}, {'connected_gene': 'TCTA', 'score': 12.02}, {'connected_gene': 'FAM212A', 'score': 11.68}, {'connected_gene': 'APEH', 'score': 11.53}, {'connected_gene': 'ENSG00000223343', 'score': 11.11}, {'connected_gene': 'RHOA-IT1', 'score': 11.06}, {'connected_gene': 'NAT6', 'score': 11.0}, {'connected_gene': 'C3orf62', 'score': 10.9}, {'connected_gene': 'IMPDH2', 'score': 10.5}, {'connected_gene': 'NDUFAF3', 'score': 10.5}, {'connected_gene': 'MIR191', 'score': 10.5}, {'connected_gene': 'MIR425', 'score': 10.5}, {'connected_gene': 'P4HTM', 'score': 10.45}, {'connected_gene': 'QARS', 'score': 9.64}, {'connected_gene': 'CDHR4', 'score': 5.64}, {'connected_gene': 'ARIH2', 'score': 3.95}, {'connected_gene': 'MST1', 'score': 3.73}, {'connected_gene': 'IP6K1', 'score': 3.52}, {'connected_gene': 'UBA7', 'score': 2.45}, {'connected_gene': 'GC03M049358', 'score': 0.39}]
chr3 GH03I049387 49387738 49387957 0.86 [{'connected_gene': 'USP4', 'score': 1.95}, {'connected_gene': 'ARIH2', 'score': 1.71}, {'connected_gene': 'UBA7', 'score': 1.47}, {'connected_gene': 'QRICH1', 'score': 1.31}, {'connected_gene': 'TCTA', 'score': 0.34}, {'connected_gene': 'RHOA-IT1', 'score': 0.34}, {'connected_gene': 'RHOA', 'score': 0.31}]
chr3 GH03I049400 49400401 49400600 0.51 [{'connected_gene': 'TCTA', 'score': 0.39}, {'connected_gene': 'RHOA', 'score': 0.39}, {'connected_gene': 'RHOA-IT1', 'score': 0.29}]
chr3 GH03I049397 49397588 49397717 0.9 [{'connected_gene': 'MST1', 'score': 3.69}, {'connected_gene': 'TCTA', 'score': 0.39}, {'connected_gene': 'RHOA', 'score': 0.37}, {'connected_gene': 'RHOA-IT1', 'score': 0.29}]
chr3 GH03I049409 49409349 49418264 2.46 [{'connected_gene': 'RHOA', 'score': 550.77}, {'connected_gene': 'TCTA', 'score': 550.77}, {'connected_gene': 'AMT', 'score': 45.15}, {'connected_gene': 'CCDC71', 'score': 22.23}, {'connected_gene': 'WDR6', 'score': 15.54}, {'connected_gene': 'SEMA3F-AS1', 'score': 15.38}, {'connected_gene': 'QRICH1', 'score': 12.91}, {'connected_gene': 'FAM212A', 'score': 11.87}, {'connected_gene': 'RBM5', 'score': 11.82}, {'connected_gene': 'RNA5SP130', 'score': 11.64}, {'connected_gene': 'DAG1', 'score': 11.64}, {'connected_gene': 'TMEM115', 'score': 11.6}, {'connected_gene': 'USP4', 'score': 11.39}, {'connected_gene': 'KLHDC8B', 'score': 10.49}, {'connected_gene': 'C3orf62', 'score': 10.38}, {'connected_gene': 'LAMB2', 'score': 9.92}, {'connected_gene': 'APEH', 'score': 7.28}, {'connected_gene': 'NICN1', 'score': 6.0}, {'connected_gene': 'MST1', 'score': 3.69}, {'connected_gene': 'GC03P049421', 'score': 0.44}, {'connected_gene': 'ENSG00000283189', 'score': 0.37}]
chr3 GH03I049356 49356166 49360407 2.22 [{'connected_gene': 'GPX1', 'score': 550.77}, {'connected_gene': 'GC03M049358', 'score': 550.77}, {'connected_gene': 'GC03M049359', 'score': 550.77}, {'connected_gene': 'AMT', 'score': 44.92}, {'connected_gene': 'QRICH1', 'score': 23.62}, {'connected_gene': 'RBM5', 'score': 20.29}, {'connected_gene': 'RBM6', 'score': 19.63}, {'connected_gene': 'SEMA3F-AS1', 'score': 17.68}, {'connected_gene': 'RHOA-IT1', 'score': 15.9}, {'connected_gene': 'USP19', 'score': 15.43}, {'connected_gene': 'RASSF1', 'score': 13.78}, {'connected_gene': 'ATRIP', 'score': 13.35}, {'connected_gene': 'TMEM89', 'score': 13.11}, {'connected_gene': 'FAM212A', 'score': 11.91}, {'connected_gene': 'CCDC71', 'score': 11.8}, {'connected_gene': 'IP6K2', 'score': 10.79}, {'connected_gene': 'QARS', 'score': 10.78}, {'connected_gene': 'ENSG00000235236', 'score': 9.9}, {'connected_gene': 'WDR6', 'score': 9.85}, {'connected_gene': 'HYAL3', 'score': 4.82}, {'connected_gene': 'RHOA', 'score': 0.23}]
chr3 GH03I049362 49361059 49361665 0.84 [{'connected_gene': 'GPX1', 'score': 0.77}, {'connected_gene': 'RHOA-IT1', 'score': 0.44}, {'connected_gene': 'RHOA', 'score': 0.23}]
chr3 GH03I049406 49406002 49408200 0.85 [{'connected_gene': 'AMT', 'score': 36.06}, {'connected_gene': 'USP4', 'score': 14.76}, {'connected_gene': 'C3orf62', 'score': 10.39}, {'connected_gene': 'CCDC71', 'score': 10.14}, {'connected_gene': 'KLHDC8B', 'score': 10.14}, {'connected_gene': 'MST1', 'score': 3.69}, {'connected_gene': 'RHOA', 'score': 0.44}, {'connected_gene': 'TCTA', 'score': 0.44}, {'connected_gene': 'RHOA-IT1', 'score': 0.26}]
chr3 GH03I049401 49400938 49401561 0.2 [{'connected_gene': 'AMT', 'score': 45.05}, {'connected_gene': 'TCTA', 'score': 0.39}, {'connected_gene': 'RHOA', 'score': 0.39}, {'connected_gene': 'RHOA-IT1', 'score': 0.29}]
chr3 GH03I049248 49248202 49249657 1.18 [{'connected_gene': 'AMT', 'score': 41.11}, {'connected_gene': 'WDR6', 'score': 37.21}, {'connected_gene': 'USP4', 'score': 19.83}, {'connected_gene': 'C3orf62', 'score': 11.71}, {'connected_gene': 'LAMB2', 'score': 11.1}, {'connected_gene': 'KLHDC8B', 'score': 10.71}, {'connected_gene': 'CCDC71', 'score': 10.7}, {'connected_gene': 'DALRD3', 'score': 6.61}, {'connected_gene': 'RHOA', 'score': 3.57}, {'connected_gene': 'ARIH2', 'score': 2.91}, {'connected_gene': 'NDUFAF3', 'score': 1.27}, {'connected_gene': 'ENSG00000270538', 'score': 0.77}, {'connected_gene': 'PIR41977', 'score': 0.25}, {'connected_gene': 'CCDC36', 'score': 0.23}]
chr3 GH03I049370 49370054 49372677 0.2 [{'connected_gene': 'AMT', 'score': 45.02}, {'connected_gene': 'WDR6', 'score': 15.67}, {'connected_gene': 'FAM212A', 'score': 11.81}, {'connected_gene': 'MST1', 'score': 3.69}, {'connected_gene': 'RHOA-IT1', 'score': 0.77}, {'connected_gene': 'TCTA', 'score': 0.26}, {'connected_gene': 'RHOA', 'score': 0.26}]
chr3 GH03I049361 49361999 49363639 0.38 [{'connected_gene': 'AMT', 'score': 44.03}, {'connected_gene': 'RHOA-IT1', 'score': 0.77}, {'connected_gene': 'GPX1', 'score': 0.77}, {'connected_gene': 'RHOA', 'score': 0.23}]
chr3 GH03I049395 49395264 49396805 0.31 [{'connected_gene': 'WDR6', 'score': 15.53}, {'connected_gene': 'TCTA', 'score': 0.37}, {'connected_gene': 'RHOA', 'score': 0.37}, {'connected_gene': 'RHOA-IT1', 'score': 0.31}]
chr3 GH03I049265 49265022 49267639 0.72 [{'connected_gene': 'WDR6', 'score': 39.83}, {'connected_gene': 'QRICH1', 'score': 30.92}, {'connected_gene': 'AMT', 'score': 20.71}, {'connected_gene': 'RBM5', 'score': 16.63}, {'connected_gene': 'RBM6', 'score': 16.12}, {'connected_gene': 'SEMA3F-AS1', 'score': 14.61}, {'connected_gene': 'NME6', 'score': 14.28}, {'connected_gene': 'IP6K2', 'score': 14.21}, {'connected_gene': 'USP19', 'score': 14.08}, {'connected_gene': 'ATRIP', 'score': 13.03}, {'connected_gene': 'NICN1', 'score': 12.02}, {'connected_gene': 'ENSG00000235236', 'score': 11.66}, {'connected_gene': 'CCDC36', 'score': 11.53}, {'connected_gene': 'C3orf84', 'score': 11.52}, {'connected_gene': 'KLHDC8B', 'score': 11.17}, {'connected_gene': 'CCDC71', 'score': 11.17}, {'connected_gene': 'ENSG00000223343', 'score': 11.11}, {'connected_gene': 'RHOA-IT1', 'score': 10.87}, {'connected_gene': 'FCF1P2', 'score': 10.76}, {'connected_gene': 'LAMB2', 'score': 10.7}, {'connected_gene': 'RHOA', 'score': 10.48}, {'connected_gene': 'TCTA', 'score': 10.48}, {'connected_gene': 'P4HTM', 'score': 10.45}, {'connected_gene': 'QARS', 'score': 10.18}, {'connected_gene': 'BSN', 'score': 9.37}, {'connected_gene': 'BSN-AS2', 'score': 8.89}, {'connected_gene': 'ENSG00000199546', 'score': 0.77}, {'connected_gene': 'ENSG00000225399', 'score': 0.44}]
chr3 GH03I049385 49385801 49387000 0.94 [{'connected_gene': 'WDR6', 'score': 15.55}, {'connected_gene': 'FAM212A', 'score': 11.8}, {'connected_gene': 'RHOA-IT1', 'score': 0.37}, {'connected_gene': 'TCTA', 'score': 0.31}, {'connected_gene': 'RHOA', 'score': 0.31}]
chr3 GH03I049377 49377202 49380335 0.99 [{'connected_gene': 'WDR6', 'score': 15.61}, {'connected_gene': 'FAM212A', 'score': 11.86}, {'connected_gene': 'RBM6', 'score': 4.42}, {'connected_gene': 'MST1', 'score': 3.69}, {'connected_gene': 'GMPPB', 'score': 3.51}, {'connected_gene': 'RHOA-IT1', 'score': 0.39}, {'connected_gene': 'RHOA', 'score': 0.29}, {'connected_gene': 'TCTA', 'score': 0.29}]
chr3 GH03I049237 49237729 49240672 1.53 [{'connected_gene': 'WDR6', 'score': 44.54}, {'connected_gene': 'AMT', 'score': 40.62}, {'connected_gene': 'IP6K2', 'score': 11.28}, {'connected_gene': 'TREX1', 'score': 10.46}, {'connected_gene': 'ZNF589', 'score': 9.98}, {'connected_gene': 'USP4', 'score': 7.75}, {'connected_gene': 'APEH', 'score': 6.58}, {'connected_gene': 'DALRD3', 'score': 6.2}, {'connected_gene': 'ENSG00000235236', 'score': 4.08}, {'connected_gene': 'RHOA', 'score': 3.35}, {'connected_gene': 'ARIH2', 'score': 2.49}, {'connected_gene': 'AMIGO3', 'score': 1.23}, {'connected_gene': 'ENSG00000270538', 'score': 0.39}, {'connected_gene': 'PIR41977', 'score': 0.28}, {'connected_gene': 'CCDC36', 'score': 0.26}]
chr3 GH03I049269 49269028 49272284 0.38 [{'connected_gene': 'ENSG00000199546', 'score': 550.77}, {'connected_gene': 'AMT', 'score': 50.12}, {'connected_gene': 'WDR6', 'score': 39.95}, {'connected_gene': 'CCDC36', 'score': 11.25}, {'connected_gene': 'C3orf84', 'score': 11.24}, {'connected_gene': 'KLHDC8B', 'score': 11.21}, {'connected_gene': 'CCDC71', 'score': 11.21}, {'connected_gene': 'RNA5SP130', 'score': 10.96}, {'connected_gene': 'DAG1', 'score': 10.96}, {'connected_gene': 'LAMB2', 'score': 10.7}, {'connected_gene': 'RHOA', 'score': 10.48}, {'connected_gene': 'TCTA', 'score': 10.48}, {'connected_gene': 'QARS', 'score': 10.09}, {'connected_gene': 'QRICH1', 'score': 10.08}, {'connected_gene': 'BSN', 'score': 9.37}, {'connected_gene': 'BSN-AS2', 'score': 9.07}, {'connected_gene': 'MIR4271', 'score': 0.77}, {'connected_gene': 'C3orf62', 'score': 0.44}]
chr3 GH03I049418 49418765 49420051 0.64 [{'connected_gene': 'GC03P049421', 'score': 550.77}, {'connected_gene': 'RNA5SP130', 'score': 11.53}, {'connected_gene': 'DAG1', 'score': 11.53}, {'connected_gene': 'LAMB2', 'score': 9.78}, {'connected_gene': 'AMT', 'score': 0.77}, {'connected_gene': 'RHOA', 'score': 0.44}, {'connected_gene': 'ENSG00000283189', 'score': 0.44}]
chr3 GH03I049421 49420265 49420322 0.51 [{'connected_gene': 'GC03P049421', 'score': 550.77}, {'connected_gene': 'RNA5SP130', 'score': 11.53}, {'connected_gene': 'DAG1', 'score': 11.53}, {'connected_gene': 'LAMB2', 'score': 9.78}, {'connected_gene': 'AMT', 'score': 0.77}, {'connected_gene': 'RHOA', 'score': 0.44}, {'connected_gene': 'ENSG00000283189', 'score': 0.44}]

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