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
ENST00000489476 [[73956230, 73956432], [73957686, 73957863], [73959289, 73959412], [73964428, 73964462]] None
ENST00000463231 [[73956295, 73956432], [73957686, 73957863], [73959289, 73959412], [73961654, 73961718], [73964428, 73964502]] None
ENST00000484969 [[73956360, 73956432], [73957686, 73957863], [73959289, 73959412], [73961555, 73961718], [73964428, 73964485]] None
ENST00000272424 [[73956956, 73957156], [73957686, 73957863], [73959289, 73959412], [73961555, 73961718], [73964428, 73964513]] [[73957069, 73957156], [73957686, 73957863], [73959289, 73959412], [73961555, 73961696]]
ENST00000485758 [[73957016, 73957156], [73957686, 73958276]] None
ENST00000409716 [[73957016, 73957156], [73957686, 73957863], [73959289, 73959412], [73959710, 73959827], [73961555, 73961715], [73964428, 73964527]] [[73957069, 73957156], [73957686, 73957863], [73959289, 73959412], [73959710, 73959827], [73961555, 73961696]]
ENST00000318190 [[73957016, 73957156], [73957686, 73957863], [73959289, 73959412], [73959710, 73959827], [73961555, 73961718], [73964428, 73964527]] [[73957069, 73957156], [73957686, 73957863], [73959289, 73959412], [73959710, 73959827], [73961555, 73961696]]
ENST00000497464 [[73957390, 73957863], [73959289, 73959412], [73961555, 73961718], [73964428, 73964467]] None
ENST00000462166 [[73957711, 73957863], [73959289, 73959412], [73961654, 73961715], [73964428, 73964513]] None
ENST00000470012 [[73959032, 73959412], [73959710, 73959827], [73961555, 73961718], [73964428, 73964462]] None
NM_001330388 [[73956963, 73957156], [73957686, 73957863], [73959289, 73959412], [73961555, 73961718], [73963743, 73963883], [73964342, 73964388]] [[73957069, 73957156], [73957686, 73957863], [73959289, 73959412], [73961555, 73961696]]
NM_001330390 [[73956963, 73957156], [73957686, 73957863], [73959289, 73959412], [73959710, 73959831], [73961555, 73961718], [73964428, 73964533]] [[73957069, 73957156], [73957686, 73957863], [73959289, 73959412], [73959710, 73959797]]
NM_001330386 [[73956963, 73957156], [73957686, 73957863], [73959289, 73959412], [73959710, 73959827], [73961555, 73961718], [73964428, 73964533]] [[73957069, 73957156], [73957686, 73957863], [73959289, 73959412], [73959710, 73959827], [73961555, 73961696]]
NM_016058 [[73956963, 73957156], [73957686, 73957863], [73959289, 73959412], [73961555, 73961718], [73964428, 73964533]] [[73957069, 73957156], [73957686, 73957863], [73959289, 73959412], [73961555, 73961696]]
NM_001330392 [[73956963, 73957156], [73957686, 73957863], [73959289, 73959412], [73961654, 73961718], [73964428, 73964533]] [[73957069, 73957156], [73957686, 73957863], [73959289, 73959412], [73961654, 73961696]]
NM_001330387 [[73956963, 73957156], [73957686, 73957863], [73959289, 73959412], [73959710, 73959827], [73961555, 73961715], [73964428, 73964533]] [[73957069, 73957156], [73957686, 73957863], [73959289, 73959412], [73959710, 73959827], [73961555, 73961696]]
NM_001330389 [[73956963, 73957156], [73957686, 73957863], [73959289, 73959412], [73961555, 73961715], [73964428, 73964533]] [[73957069, 73957156], [73957686, 73957863], [73959289, 73959412], [73961555, 73961696]]
NM_001330391 [[73956963, 73957156], [73957686, 73957863], [73959289, 73959412], [73961654, 73961715], [73964428, 73964533]] [[73957069, 73957156], [73957686, 73957863], [73959289, 73959412], [73961654, 73961696]]
Promoter
Chrom Start End Description
chr2 73964420 73964431 CAGE_peak_3_at_TPRKB_5end
chr2 73964447 73964495 CAGE_peak_1_at_TPRKB_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I073069 73069186 73072691 2.09 [{'connected_gene': 'SFXN5', 'score': 550.77}, {'connected_gene': 'DUSP11', 'score': 27.93}, {'connected_gene': 'CCT7', 'score': 25.63}, {'connected_gene': 'ENSG00000273245', 'score': 21.16}, {'connected_gene': 'ALMS1', 'score': 19.21}, {'connected_gene': 'TPRKB', 'score': 12.37}, {'connected_gene': 'SMYD5', 'score': 11.55}, {'connected_gene': 'DGUOK-AS1', 'score': 10.15}, {'connected_gene': 'RAB11FIP5', 'score': 6.3}, {'connected_gene': 'PIR43769', 'score': 0.77}, {'connected_gene': 'GC02M073119', 'score': 0.77}, {'connected_gene': 'LOC105374800', 'score': 0.37}]
chr2 GH02I073851 73851114 73852775 0.75 [{'connected_gene': 'PCGF1', 'score': 13.27}, {'connected_gene': 'WBP1', 'score': 11.03}, {'connected_gene': 'DUSP11', 'score': 11.01}, {'connected_gene': 'INO80B', 'score': 10.8}, {'connected_gene': 'ENSG00000273245', 'score': 9.99}, {'connected_gene': 'TTC31', 'score': 9.94}, {'connected_gene': 'TPRKB', 'score': 4.69}, {'connected_gene': 'LOC105374806', 'score': 0.44}, {'connected_gene': 'LOC105374807', 'score': 0.34}, {'connected_gene': 'STAMBP', 'score': 0.34}]
chr2 GH02I073685 73685620 73686770 0.76 [{'connected_gene': 'DUSP11', 'score': 12.42}, {'connected_gene': 'ENSG00000273245', 'score': 11.88}, {'connected_gene': 'TTC31', 'score': 10.36}, {'connected_gene': 'PCGF1', 'score': 10.24}, {'connected_gene': 'BOLA3', 'score': 10.19}, {'connected_gene': 'BOLA3-AS1', 'score': 10.19}, {'connected_gene': 'TPRKB', 'score': 9.35}, {'connected_gene': 'NAT8B', 'score': 0.37}, {'connected_gene': 'ALMS1P1', 'score': 0.26}]
chr2 GH02I073778 73778800 73780763 2.01 [{'connected_gene': 'DUSP11', 'score': 563.03}, {'connected_gene': 'ENSG00000273245', 'score': 11.98}, {'connected_gene': 'TPRKB', 'score': 11.09}, {'connected_gene': 'TTC31', 'score': 10.36}, {'connected_gene': 'PCGF1', 'score': 10.24}, {'connected_gene': 'ENSG00000280037', 'score': 0.37}]
chr2 GH02I073759 73759269 73760094 0.46 [{'connected_gene': 'DUSP11', 'score': 11.79}, {'connected_gene': 'C2orf78', 'score': 11.79}, {'connected_gene': 'TPRKB', 'score': 11.18}, {'connected_gene': 'STAMBP', 'score': 10.66}, {'connected_gene': 'TET3', 'score': 10.05}, {'connected_gene': 'BOLA3', 'score': 9.76}, {'connected_gene': 'BOLA3-AS1', 'score': 9.76}, {'connected_gene': 'ENSG00000280037', 'score': 0.77}, {'connected_gene': 'ENSG00000273245', 'score': 0.44}]
chr2 GH02I073839 73839000 73839401 0.58 [{'connected_gene': 'ACTG2', 'score': 11.09}, {'connected_gene': 'TET3', 'score': 10.64}, {'connected_gene': 'BOLA3', 'score': 10.24}, {'connected_gene': 'BOLA3-AS1', 'score': 10.24}, {'connected_gene': 'LOC107985899', 'score': 9.93}, {'connected_gene': 'SLC4A5', 'score': 8.89}, {'connected_gene': 'TPRKB', 'score': 5.12}, {'connected_gene': 'LOC105374807', 'score': 0.44}, {'connected_gene': 'STAMBP', 'score': 0.39}, {'connected_gene': 'LOC105374806', 'score': 0.37}]
chr2 GH02I073892 73892168 73895330 1.69 [{'connected_gene': 'ACTG2', 'score': 562.36}, {'connected_gene': 'STAMBP', 'score': 15.71}, {'connected_gene': 'DGUOK', 'score': 11.42}, {'connected_gene': 'TET3', 'score': 10.43}, {'connected_gene': 'BOLA3', 'score': 10.22}, {'connected_gene': 'BOLA3-AS1', 'score': 10.22}, {'connected_gene': 'TPRKB', 'score': 9.75}, {'connected_gene': 'HTRA2', 'score': 5.62}, {'connected_gene': 'MOB1A', 'score': 4.9}, {'connected_gene': 'ALMS1', 'score': 4.55}, {'connected_gene': 'GC02M073905', 'score': 0.37}]
chr2 GH02I073699 73699290 73702869 1.47 [{'connected_gene': 'NAT8B', 'score': 550.77}, {'connected_gene': 'NAT8', 'score': 550.22}, {'connected_gene': 'TPRKB', 'score': 21.42}, {'connected_gene': 'ALMS1P1', 'score': 0.22}]
chr2 GH02I073702 73702974 73703143 0.2 [{'connected_gene': 'NAT8B', 'score': 550.77}, {'connected_gene': 'TPRKB', 'score': 12.01}]
chr2 GH02I073736 73736102 73738330 2.08 [{'connected_gene': 'TPRKB', 'score': 561.34}, {'connected_gene': 'PCGF1', 'score': 18.61}, {'connected_gene': 'DUSP11', 'score': 12.52}, {'connected_gene': 'CCT7', 'score': 12.12}, {'connected_gene': 'ENSG00000273245', 'score': 12.07}, {'connected_gene': 'ALMS1', 'score': 10.98}, {'connected_gene': 'TTC31', 'score': 10.36}, {'connected_gene': 'NAT8B', 'score': 0.28}]
chr2 GH02I073717 73717801 73718000 0.38 [{'connected_gene': 'TPRKB', 'score': 17.39}, {'connected_gene': 'NAT8B', 'score': 0.37}]
chr2 GH02I073716 73716201 73717703 0.9 [{'connected_gene': 'TPRKB', 'score': 23.13}, {'connected_gene': 'ALMS1P1', 'score': 7.96}, {'connected_gene': 'NAT8B', 'score': 0.37}]
chr2 GH02I073782 73782966 73784196 1.07 [{'connected_gene': 'C2orf78', 'score': 550.77}, {'connected_gene': 'TPRKB', 'score': 10.93}, {'connected_gene': 'CCT7', 'score': 4.54}, {'connected_gene': 'DUSP11', 'score': 0.77}]
chr2 GH02I074454 74454394 74459821 2.14 [{'connected_gene': 'WBP1', 'score': 570.83}, {'connected_gene': 'INO80B', 'score': 568.59}, {'connected_gene': 'PCGF1', 'score': 37.91}, {'connected_gene': 'TTC31', 'score': 36.87}, {'connected_gene': 'AUP1', 'score': 30.52}, {'connected_gene': 'MOGS', 'score': 27.49}, {'connected_gene': 'CCDC142', 'score': 26.62}, {'connected_gene': 'DUSP11', 'score': 25.34}, {'connected_gene': 'ENSG00000273245', 'score': 24.78}, {'connected_gene': 'LBX2', 'score': 23.12}, {'connected_gene': 'TPRKB', 'score': 12.37}, {'connected_gene': 'MOB1A', 'score': 10.09}, {'connected_gene': 'DGUOK-AS1', 'score': 9.79}, {'connected_gene': 'INO80B-WBP1', 'score': 0.77}, {'connected_gene': 'GC02M074444', 'score': 0.77}, {'connected_gene': 'GC02M074442', 'score': 0.77}]
chr2 GH02I073485 73485801 73486000 0.2 [{'connected_gene': 'ALMS1P1', 'score': 21.82}, {'connected_gene': 'NAT8', 'score': 6.25}, {'connected_gene': 'TPRKB', 'score': 5.99}, {'connected_gene': 'ALMS1-IT1', 'score': 0.31}, {'connected_gene': 'GC02P073585', 'score': 0.15}, {'connected_gene': 'ALMS1', 'score': 0.15}]
chr2 GH02I073515 73515500 73517094 0.38 [{'connected_gene': 'ALMS1P1', 'score': 20.46}, {'connected_gene': 'ALMS1', 'score': 10.34}, {'connected_gene': 'TPRKB', 'score': 6.46}, {'connected_gene': 'ALMS1-IT1', 'score': 0.22}, {'connected_gene': 'GC02P073585', 'score': 0.2}]
chr2 GH02I073776 73776674 73777889 0.67 [{'connected_gene': 'ALMS1P1', 'score': 14.96}, {'connected_gene': 'TPRKB', 'score': 12.09}, {'connected_gene': 'BOLA3', 'score': 9.99}, {'connected_gene': 'BOLA3-AS1', 'score': 9.99}, {'connected_gene': 'DUSP11', 'score': 0.77}, {'connected_gene': 'ENSG00000280037', 'score': 0.37}]
chr2 GH02I073895 73895934 73897655 1.05 [{'connected_gene': 'DGUOK', 'score': 11.42}, {'connected_gene': 'TET3', 'score': 10.43}, {'connected_gene': 'STAMBP', 'score': 10.32}, {'connected_gene': 'BOLA3', 'score': 10.22}, {'connected_gene': 'BOLA3-AS1', 'score': 10.22}, {'connected_gene': 'TPRKB', 'score': 9.75}, {'connected_gene': 'ALMS1-IT1', 'score': 4.64}, {'connected_gene': 'SMYD5', 'score': 4.28}, {'connected_gene': 'ACTG2', 'score': 0.77}, {'connected_gene': 'GC02M073905', 'score': 0.37}]
chr2 GH02I073828 73828098 73832063 2.23 [{'connected_gene': 'STAMBP', 'score': 558.64}, {'connected_gene': 'LOC105374807', 'score': 550.77}, {'connected_gene': 'TPRKB', 'score': 6.31}, {'connected_gene': 'ALMS1P1', 'score': 5.14}]
chr2 GH02I073232 73232406 73236260 2.12 [{'connected_gene': 'CCT7', 'score': 579.47}, {'connected_gene': 'PRADC1', 'score': 561.49}, {'connected_gene': 'DUSP11', 'score': 64.74}, {'connected_gene': 'ENSG00000273245', 'score': 63.52}, {'connected_gene': 'MOB1A', 'score': 30.39}, {'connected_gene': 'FBXO41', 'score': 12.52}, {'connected_gene': 'TPRKB', 'score': 12.37}, {'connected_gene': 'ALMS1', 'score': 11.03}, {'connected_gene': 'DGUOK-AS1', 'score': 10.15}, {'connected_gene': 'PIR47890', 'score': 0.44}]
chr2 GH02I073640 73640574 73641000 0.95 [{'connected_gene': 'GC02P073640', 'score': 550.77}, {'connected_gene': 'NAT8', 'score': 550.77}, {'connected_gene': 'ALMS1P1', 'score': 23.51}, {'connected_gene': 'TPRKB', 'score': 10.11}, {'connected_gene': 'FBXO41', 'score': 6.78}, {'connected_gene': 'GC02P073585', 'score': 0.22}]
chr2 GH02I074196 74196814 74200680 2.11 [{'connected_gene': 'ENSG00000279070', 'score': 550.77}, {'connected_gene': 'MTHFD2', 'score': 550.77}, {'connected_gene': 'PCGF1', 'score': 40.46}, {'connected_gene': 'DUSP11', 'score': 38.6}, {'connected_gene': 'INO80B', 'score': 38.56}, {'connected_gene': 'ENSG00000273245', 'score': 37.39}, {'connected_gene': 'WBP1', 'score': 28.29}, {'connected_gene': 'AUP1', 'score': 23.63}, {'connected_gene': 'TTC31', 'score': 22.87}, {'connected_gene': 'MOB1A', 'score': 22.46}, {'connected_gene': 'HTRA2', 'score': 22.1}, {'connected_gene': 'SEMA4F', 'score': 22.05}, {'connected_gene': 'ALMS1', 'score': 21.77}, {'connected_gene': 'CCT7', 'score': 20.88}, {'connected_gene': 'BOLA3-AS1', 'score': 20.64}, {'connected_gene': 'WDR54', 'score': 19.46}, {'connected_gene': 'ALMS1P1', 'score': 18.66}, {'connected_gene': 'DGUOK-AS1', 'score': 18.29}, {'connected_gene': 'SLC4A5', 'score': 17.54}, {'connected_gene': 'MOGS', 'score': 14.27}, {'connected_gene': 'CCDC142', 'score': 14.06}, {'connected_gene': 'SMYD5', 'score': 14.03}, {'connected_gene': 'ENSG00000159239', 'score': 12.06}, {'connected_gene': 'DCTN1', 'score': 11.85}, {'connected_gene': 'BOLA3', 'score': 10.84}, {'connected_gene': 'ENSG00000270571', 'score': 10.82}, {'connected_gene': 'TPRKB', 'score': 10.77}, {'connected_gene': 'LOC107985899', 'score': 10.09}, {'connected_gene': 'GC02P074217', 'score': 0.37}]
chr2 GH02I074714 74714614 74716200 1.17 [{'connected_gene': 'GC02P074717', 'score': 550.77}, {'connected_gene': 'LOC102724497', 'score': 550.77}, {'connected_gene': 'INO80B', 'score': 15.4}, {'connected_gene': 'WBP1', 'score': 15.1}, {'connected_gene': 'GCFC2', 'score': 12.96}, {'connected_gene': 'DUSP11', 'score': 12.52}, {'connected_gene': 'HK2', 'score': 11.81}, {'connected_gene': 'SEMA4F', 'score': 10.97}, {'connected_gene': 'M1AP', 'score': 10.96}, {'connected_gene': 'PCGF1', 'score': 10.92}, {'connected_gene': 'ENSG00000270571', 'score': 10.84}, {'connected_gene': 'TPRKB', 'score': 10.75}, {'connected_gene': 'ENSG00000271452', 'score': 10.38}, {'connected_gene': 'ENSG00000159239', 'score': 10.25}, {'connected_gene': 'ENSG00000273245', 'score': 10.01}, {'connected_gene': 'LBX2-AS1', 'score': 4.24}, {'connected_gene': 'RPS28P5', 'score': 0.28}]

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