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
ENST00000439951 [[60813579, 60813653], [60831112, 60831277], [60838671, 60838747], [60839684, 60839774], [60847180, 60847315], [60848364, 60848462], [60854212, 60854395], [60856113, 60856221], [60856845, 60856935], [60859101, 60859225], [60861638, 60861767], [60866758, 60866849], [60868840, 60869257]] [[60847198, 60847315], [60848364, 60848462], [60854212, 60854395], [60856113, 60856221], [60856845, 60856935], [60859101, 60859225], [60861638, 60861767], [60866758, 60866849], [60868840, 60869013]]
ENST00000313733 [[60813579, 60813653], [60831112, 60831277], [60835036, 60835181], [60838671, 60838747], [60847180, 60847315], [60848364, 60848462], [60854212, 60854395], [60856113, 60856221], [60856845, 60856935], [60859101, 60859225], [60861638, 60861767], [60864262, 60864386], [60866758, 60866849], [60868840, 60871268]] [[60831240, 60831277], [60835036, 60835181], [60838671, 60838747], [60847180, 60847315], [60848364, 60848462], [60854212, 60854395], [60856113, 60856221], [60856845, 60856935], [60859101, 60859225], [60861638, 60861767], [60864262, 60864386], [60866758, 60866849], [60868840, 60868943]]
ENST00000358053 [[60813579, 60813653], [60831112, 60831277], [60835072, 60835181], [60838671, 60838747], [60847180, 60847315], [60848364, 60848462], [60854212, 60854395], [60856113, 60856221], [60856845, 60856935], [60859101, 60859225], [60861638, 60861767], [60864262, 60864386], [60866758, 60866849], [60868840, 60871268]] [[60831240, 60831277], [60835072, 60835181], [60838671, 60838747], [60847180, 60847315], [60848364, 60848462], [60854212, 60854395], [60856113, 60856221], [60856845, 60856935], [60859101, 60859225], [60861638, 60861767], [60864262, 60864386], [60866758, 60866849], [60868840, 60868943]]
ENST00000448156 [[60848364, 60848462], [60854212, 60854405], [60855064, 60855277]] [[60848364, 60848462], [60854212, 60854399]]
ENST00000471817 [[60866617, 60866849], [60868840, 60871268]] None
NM_001278649 [[60813540, 60813653], [60831112, 60831277], [60838671, 60838747], [60839684, 60839774], [60847180, 60847315], [60848364, 60848462], [60854212, 60854395], [60856113, 60856221], [60856845, 60856935], [60859101, 60859225], [60861638, 60861767], [60866758, 60866849], [60868840, 60871269]] [[60847198, 60847315], [60848364, 60848462], [60854212, 60854395], [60856113, 60856221], [60856845, 60856935], [60859101, 60859225], [60861638, 60861767], [60866758, 60866849], [60868840, 60869013]]
NM_014835 [[60813540, 60813653], [60831112, 60831277], [60835072, 60835181], [60838671, 60838747], [60847180, 60847315], [60848364, 60848462], [60854212, 60854395], [60856113, 60856221], [60856845, 60856935], [60859101, 60859225], [60861638, 60861767], [60864262, 60864386], [60866758, 60866849], [60868840, 60871269]] [[60831240, 60831277], [60835072, 60835181], [60838671, 60838747], [60847180, 60847315], [60848364, 60848462], [60854212, 60854395], [60856113, 60856221], [60856845, 60856935], [60859101, 60859225], [60861638, 60861767], [60864262, 60864386], [60866758, 60866849], [60868840, 60868943]]
NM_144498 [[60813540, 60813653], [60831112, 60831277], [60835036, 60835181], [60838671, 60838747], [60847180, 60847315], [60848364, 60848462], [60854212, 60854395], [60856113, 60856221], [60856845, 60856935], [60859101, 60859225], [60861638, 60861767], [60864262, 60864386], [60866758, 60866849], [60868840, 60871269]] [[60831240, 60831277], [60835036, 60835181], [60838671, 60838747], [60847180, 60847315], [60848364, 60848462], [60854212, 60854395], [60856113, 60856221], [60856845, 60856935], [60859101, 60859225], [60861638, 60861767], [60864262, 60864386], [60866758, 60866849], [60868840, 60868943]]
Promoter
Chrom Start End Description
chr20 60813535 60813592 CAGE_peak_2_at_OSBPL2_5end
chr20 60813597 60813627 CAGE_peak_1_at_OSBPL2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I062236 62236314 62240328 2.45 [{'connected_gene': 'OSBPL2', 'score': 562.65}, {'connected_gene': 'TAF4', 'score': 27.26}, {'connected_gene': 'MRGBP', 'score': 20.44}, {'connected_gene': 'DIDO1', 'score': 19.47}, {'connected_gene': 'MTG2', 'score': 10.52}, {'connected_gene': 'ADRM1', 'score': 10.23}, {'connected_gene': 'LAMA5-AS1', 'score': 7.86}, {'connected_gene': 'CABLES2', 'score': 2.46}, {'connected_gene': 'GATA5', 'score': 1.64}, {'connected_gene': 'GC20M062290', 'score': 0.23}]
chr20 GH20I062231 62231597 62233758 0.88 [{'connected_gene': 'OSBPL2', 'score': 556.1}, {'connected_gene': 'DIDO1', 'score': 19.72}, {'connected_gene': 'RPS21', 'score': 12.3}, {'connected_gene': 'TAF4', 'score': 11.82}, {'connected_gene': 'ENSG00000226332', 'score': 10.05}, {'connected_gene': 'LAMA5-AS1', 'score': 7.24}, {'connected_gene': 'LOC105369209', 'score': 0.77}, {'connected_gene': 'GC20M062290', 'score': 0.22}]
chr20 GH20I062298 62298514 62299268 0.2 [{'connected_gene': 'OSBPL2', 'score': 9.42}, {'connected_gene': 'ENSG00000226332', 'score': 5.18}, {'connected_gene': 'ADRM1', 'score': 0.77}, {'connected_gene': 'GC20M062290', 'score': 0.44}]
chr20 GH20I062297 62297104 62298016 0.79 [{'connected_gene': 'OSBPL2', 'score': 9.42}, {'connected_gene': 'LAMA5-AS1', 'score': 7.97}, {'connected_gene': 'MTG2', 'score': 5.36}, {'connected_gene': 'ADRM1', 'score': 0.77}, {'connected_gene': 'GC20M062290', 'score': 0.44}]
chr20 GH20I062234 62234085 62236162 0.95 [{'connected_gene': 'OSBPL2', 'score': 12.55}, {'connected_gene': 'LAMA5-AS1', 'score': 8.13}, {'connected_gene': 'LOC105369209', 'score': 0.44}, {'connected_gene': 'GC20M062290', 'score': 0.22}]
chr20 GH20I062269 62269723 62270365 0.38 [{'connected_gene': 'OSBPL2', 'score': 13.08}, {'connected_gene': 'LAMA5-AS1', 'score': 8.12}, {'connected_gene': 'ENSG00000226332', 'score': 5.0}, {'connected_gene': 'GC20M062290', 'score': 0.34}]
chr20 GH20I062385 62385353 62389298 2.26 [{'connected_gene': 'RPS21', 'score': 582.48}, {'connected_gene': 'ENSG00000273619', 'score': 550.77}, {'connected_gene': 'DIDO1', 'score': 74.25}, {'connected_gene': 'TAF4', 'score': 23.37}, {'connected_gene': 'CABLES2', 'score': 21.29}, {'connected_gene': 'ENSG00000226332', 'score': 18.84}, {'connected_gene': 'LAMA5', 'score': 12.13}, {'connected_gene': 'LSM14B', 'score': 11.74}, {'connected_gene': 'GID8', 'score': 9.79}, {'connected_gene': 'OSBPL2', 'score': 4.83}, {'connected_gene': 'GC20M062395', 'score': 0.77}, {'connected_gene': 'PIR58957', 'score': 0.77}]
chr20 GH20I062293 62293195 62294862 0.38 [{'connected_gene': 'LAMA5', 'score': 11.92}, {'connected_gene': 'RPS21', 'score': 11.73}, {'connected_gene': 'HRH3', 'score': 11.11}, {'connected_gene': 'OSBPL2', 'score': 9.21}, {'connected_gene': 'LAMA5-AS1', 'score': 7.98}, {'connected_gene': 'GC20M062290', 'score': 0.77}, {'connected_gene': 'ADRM1', 'score': 0.44}]
chr20 GH20I062275 62275998 62277874 0.38 [{'connected_gene': 'LAMA5', 'score': 12.05}, {'connected_gene': 'HRH3', 'score': 11.41}, {'connected_gene': 'MTG2', 'score': 11.0}, {'connected_gene': 'LAMA5-AS1', 'score': 8.13}, {'connected_gene': 'CABLES2', 'score': 4.69}, {'connected_gene': 'GC20M062290', 'score': 0.39}, {'connected_gene': 'OSBPL2', 'score': 0.25}]
chr20 GH20I062287 62287519 62289815 0.46 [{'connected_gene': 'LAMA5', 'score': 11.85}, {'connected_gene': 'HRH3', 'score': 11.25}, {'connected_gene': 'ENSG00000226332', 'score': 7.96}, {'connected_gene': 'LAMA5-AS1', 'score': 7.04}, {'connected_gene': 'ADRM1', 'score': 6.34}, {'connected_gene': 'GC20M062290', 'score': 0.77}, {'connected_gene': 'OSBPL2', 'score': 0.22}]
chr20 GH20I062284 62284716 62287145 0.8 [{'connected_gene': 'LAMA5', 'score': 11.85}, {'connected_gene': 'LAMA5-AS1', 'score': 8.15}, {'connected_gene': 'GC20M062290', 'score': 0.44}, {'connected_gene': 'OSBPL2', 'score': 0.23}]
chr20 GH20I062352 62352563 62371667 2.81 [{'connected_gene': 'LAMA5', 'score': 580.43}, {'connected_gene': 'LAMA5-AS1', 'score': 24.46}, {'connected_gene': 'ARFGAP1', 'score': 15.55}, {'connected_gene': 'YTHDF1', 'score': 12.39}, {'connected_gene': 'MTG2', 'score': 8.95}, {'connected_gene': 'CABLES2', 'score': 8.74}, {'connected_gene': 'OSBPL2', 'score': 8.56}, {'connected_gene': 'BHLHE23', 'score': 5.94}, {'connected_gene': 'MRGBP', 'score': 3.35}, {'connected_gene': 'ADRM1', 'score': 3.31}, {'connected_gene': 'RPS21', 'score': 2.12}, {'connected_gene': 'RBBP8NL', 'score': 1.96}, {'connected_gene': 'PSMA7', 'score': 1.85}, {'connected_gene': 'SLCO4A1', 'score': 1.82}, {'connected_gene': 'NTSR1', 'score': 1.47}, {'connected_gene': 'SS18L1', 'score': 1.19}, {'connected_gene': 'TAF4', 'score': 1.12}]
chr20 GH20I062282 62282527 62283850 0.66 [{'connected_gene': 'LAMA5', 'score': 11.74}, {'connected_gene': 'LAMA5-AS1', 'score': 7.9}, {'connected_gene': 'MTG2', 'score': 7.11}, {'connected_gene': 'CABLES2', 'score': 6.69}, {'connected_gene': 'GC20M062290', 'score': 0.44}, {'connected_gene': 'OSBPL2', 'score': 0.23}]
chr20 GH20I062240 62240846 62243425 0.72 [{'connected_gene': 'HRH3', 'score': 12.73}, {'connected_gene': 'OSBPL2', 'score': 12.48}, {'connected_gene': 'LAMA5-AS1', 'score': 7.4}, {'connected_gene': 'GC20M062290', 'score': 0.25}]
chr20 GH20I062243 62243560 62245480 0.64 [{'connected_gene': 'HRH3', 'score': 12.73}, {'connected_gene': 'MTG2', 'score': 10.14}, {'connected_gene': 'OSBPL2', 'score': 9.47}, {'connected_gene': 'LAMA5-AS1', 'score': 6.88}, {'connected_gene': 'GC20M062290', 'score': 0.25}]
chr20 GH20I062245 62245906 62247639 0.89 [{'connected_gene': 'HRH3', 'score': 12.25}, {'connected_gene': 'LAMA5-AS1', 'score': 8.21}, {'connected_gene': 'MTG2', 'score': 6.26}, {'connected_gene': 'ENSG00000226332', 'score': 4.94}, {'connected_gene': 'OSBPL2', 'score': 0.39}, {'connected_gene': 'GC20M062290', 'score': 0.26}]
chr20 GH20I062088 62088290 62088781 1 [{'connected_gene': 'DIDO1', 'score': 38.62}, {'connected_gene': 'TAF4', 'score': 22.8}, {'connected_gene': 'MRGBP', 'score': 17.53}, {'connected_gene': 'LSM14B', 'score': 11.97}, {'connected_gene': 'MTG2', 'score': 10.91}, {'connected_gene': 'ENSG00000226332', 'score': 10.51}, {'connected_gene': 'LAMA5', 'score': 9.7}, {'connected_gene': 'OSBPL2', 'score': 5.69}, {'connected_gene': 'LOC105372705', 'score': 0.34}]
chr20 GH20I062300 62300941 62306639 2.6 [{'connected_gene': 'ADRM1', 'score': 565.37}, {'connected_gene': 'DIDO1', 'score': 69.78}, {'connected_gene': 'TAF4', 'score': 59.93}, {'connected_gene': 'MRGBP', 'score': 29.86}, {'connected_gene': 'ENSG00000226332', 'score': 22.28}, {'connected_gene': 'RPS21', 'score': 12.37}, {'connected_gene': 'LAMA5', 'score': 10.96}, {'connected_gene': 'GID8', 'score': 10.43}, {'connected_gene': 'LAMA5-AS1', 'score': 10.4}, {'connected_gene': 'CABLES2', 'score': 7.15}, {'connected_gene': 'OSBPL2', 'score': 6.0}, {'connected_gene': 'GATA5', 'score': 1.53}, {'connected_gene': 'LOC105372707', 'score': 0.77}]
chr20 GH20I062227 62227757 62228675 0.92 [{'connected_gene': 'LOC105369209', 'score': 550.77}, {'connected_gene': 'MTG2', 'score': 4.83}, {'connected_gene': 'OSBPL2', 'score': 0.77}]
chr20 GH20I062316 62316129 62317940 0.38 [{'connected_gene': 'LAMA5-AS1', 'score': 11.24}, {'connected_gene': 'OSBPL2', 'score': 6.23}, {'connected_gene': 'MTG2', 'score': 5.1}, {'connected_gene': 'LOC105372707', 'score': 0.44}, {'connected_gene': 'MIR4758', 'score': 0.37}, {'connected_gene': 'LAMA5', 'score': 0.23}]
chr20 GH20I062318 62318666 62320047 0.57 [{'connected_gene': 'LAMA5-AS1', 'score': 9.75}, {'connected_gene': 'OSBPL2', 'score': 7.63}, {'connected_gene': 'ADRM1', 'score': 6.84}, {'connected_gene': 'LOC105372707', 'score': 0.39}, {'connected_gene': 'MIR4758', 'score': 0.39}, {'connected_gene': 'LAMA5', 'score': 0.25}]
chr20 GH20I062266 62266851 62267992 0.66 [{'connected_gene': 'LAMA5-AS1', 'score': 8.51}, {'connected_gene': 'OSBPL2', 'score': 5.58}, {'connected_gene': 'ENSG00000226332', 'score': 5.02}, {'connected_gene': 'GC20M062290', 'score': 0.34}]
chr20 GH20I062258 62258486 62259269 0.46 [{'connected_gene': 'LAMA5-AS1', 'score': 7.32}, {'connected_gene': 'OSBPL2', 'score': 0.31}, {'connected_gene': 'GC20M062290', 'score': 0.29}]
chr20 GH20I062254 62254281 62254498 0.38 [{'connected_gene': 'ENSG00000226332', 'score': 6.69}, {'connected_gene': 'OSBPL2', 'score': 0.34}, {'connected_gene': 'GC20M062290', 'score': 0.28}]
chr20 GH20I062291 62291869 62292945 0.38 [{'connected_gene': 'GC20M062290', 'score': 550.77}, {'connected_gene': 'LAMA5', 'score': 11.73}, {'connected_gene': 'RPS21', 'score': 11.54}, {'connected_gene': 'HRH3', 'score': 11.23}, {'connected_gene': 'LAMA5-AS1', 'score': 10.0}, {'connected_gene': 'ENSG00000226332', 'score': 7.45}, {'connected_gene': 'ADRM1', 'score': 0.44}, {'connected_gene': 'OSBPL2', 'score': 0.21}]
chr20 GH20I062201 62201230 62202314 0.38 [{'connected_gene': 'PIR52239', 'score': 550.77}, {'connected_gene': 'MTG2', 'score': 23.33}, {'connected_gene': 'SS18L1', 'score': 11.31}, {'connected_gene': 'PSMA7', 'score': 11.31}, {'connected_gene': 'ENSG00000226332', 'score': 11.1}, {'connected_gene': 'ADRM1', 'score': 11.1}, {'connected_gene': 'LAMA5', 'score': 11.05}, {'connected_gene': 'OSBPL2', 'score': 9.57}, {'connected_gene': 'HRH3', 'score': 0.37}]
chr20 GH20I062649 62649729 62654454 2.1 [{'connected_gene': 'ENSG00000277496', 'score': 550.77}, {'connected_gene': 'ENSG00000276317', 'score': 550.77}, {'connected_gene': 'OGFR', 'score': 21.02}, {'connected_gene': 'YTHDF1', 'score': 11.39}, {'connected_gene': 'OGFR-AS1', 'score': 11.31}, {'connected_gene': 'MTG2', 'score': 10.59}, {'connected_gene': 'MIR1-1', 'score': 10.55}, {'connected_gene': 'MIR1-1HG-AS1', 'score': 10.54}, {'connected_gene': 'MIR1-1HG', 'score': 10.54}, {'connected_gene': 'DIDO1', 'score': 8.72}, {'connected_gene': 'OSBPL2', 'score': 4.55}, {'connected_gene': 'DPH3P1', 'score': 2.03}, {'connected_gene': 'BHLHE23', 'score': 1.65}, {'connected_gene': 'GC20P062822', 'score': 0.77}, {'connected_gene': 'LOC101928465', 'score': 0.77}, {'connected_gene': 'SLCO4A1', 'score': 0.44}]

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