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
ENST00000564663 [[55632229, 55632650], [55648509, 55648607], [55651736, 55651880]] [[55632540, 55632650], [55648509, 55648607], [55651736, 55651880]]
ENST00000563294 [[55632236, 55632650], [55640529, 55640664]] None
ENST00000442196 [[55647436, 55648607], [55651736, 55653142], [55657385, 55657507], [55663990, 55664242], [55669146, 55669348], [55670497, 55670574], [55677797, 55677912], [55681562, 55681631], [55700418, 55700457]] [[55648417, 55648607], [55651736, 55653142], [55657385, 55657507], [55663990, 55664242], [55669146, 55669348], [55670497, 55670574], [55677797, 55677912], [55681562, 55681622]]
ENST00000310958 [[55647447, 55653142], [55657385, 55657507], [55663990, 55664242], [55669146, 55669348], [55670497, 55670574], [55677797, 55677912], [55681562, 55681631], [55700418, 55700708]] [[55651696, 55653142], [55657385, 55657507], [55663990, 55664242], [55669146, 55669348], [55670497, 55670574], [55677797, 55677912], [55681562, 55681622]]
ENST00000425574 [[55647842, 55648607], [55651736, 55651888], [55653037, 55653142], [55657385, 55657507], [55663990, 55664242], [55669146, 55669348], [55670497, 55670574], [55677797, 55677912], [55681562, 55681631], [55700418, 55700504]] [[55648417, 55648607], [55651736, 55651888], [55653037, 55653142], [55657385, 55657507], [55663990, 55664242], [55669146, 55669348], [55670497, 55670574], [55677797, 55677912], [55681562, 55681622]]
ENST00000568543 [[55647975, 55648607], [55657385, 55657474]] [[55648598, 55648607], [55657385, 55657474]]
ENST00000568592 [[55648325, 55648607], [55651985, 55652405]] [[55648417, 55648607], [55651985, 55652405]]
ENST00000568372 [[55651036, 55653142], [55657385, 55657507], [55663990, 55665150]] None
ENST00000568808 [[55651036, 55653142], [55663990, 55664228], [55669146, 55669348], [55670497, 55670574], [55677797, 55677912], [55681562, 55681631], [55700418, 55700477]] [[55664223, 55664228], [55669146, 55669348], [55670497, 55670574], [55677797, 55677912], [55681562, 55681622]]
ENST00000569205 [[55651215, 55653142], [55657385, 55657507], [55663990, 55664242], [55669146, 55669348], [55670497, 55670574], [55677797, 55677912], [55681562, 55681631], [55700044, 55700250]] [[55651696, 55653142], [55657385, 55657507], [55663990, 55664242], [55669146, 55669348], [55670497, 55670574], [55677797, 55677912], [55681562, 55681622]]
ENST00000563171 [[55664070, 55664242], [55666352, 55666448], [55669146, 55669348], [55670497, 55670574], [55677797, 55677912], [55681562, 55681631], [55700418, 55700477]] [[55664070, 55664242], [55666352, 55666448], [55669146, 55669348], [55670497, 55670574], [55677797, 55677912], [55681562, 55681622]]
ENST00000570272 [[55664184, 55664242], [55669146, 55669348], [55670497, 55670574], [55677797, 55677912], [55681562, 55681631], [55690417, 55690466]] [[55664184, 55664242], [55669146, 55669348], [55670497, 55670574], [55677797, 55677912], [55681562, 55681622]]
ENST00000564092 [[55669324, 55669348], [55670497, 55670574], [55677797, 55677912], [55681562, 55681631], [55691982, 55692124], [55700418, 55700569]] [[55669324, 55669348], [55670497, 55670574], [55677797, 55677912], [55681562, 55681622]]
NM_004748 [[55647420, 55653142], [55657385, 55657507], [55663990, 55664242], [55669146, 55669348], [55670497, 55670574], [55677797, 55677912], [55681562, 55681631], [55700044, 55700574]] [[55651696, 55653142], [55657385, 55657507], [55663990, 55664242], [55669146, 55669348], [55670497, 55670574], [55677797, 55677912], [55681562, 55681622]]
NM_020739 [[55647420, 55653142], [55657385, 55657507], [55663990, 55664242], [55669146, 55669348], [55670497, 55670574], [55677797, 55677912], [55681562, 55681631], [55700418, 55700708]] [[55651696, 55653142], [55657385, 55657507], [55663990, 55664242], [55669146, 55669348], [55670497, 55670574], [55677797, 55677912], [55681562, 55681622]]
NM_001204450 [[55647420, 55648607], [55651736, 55653142], [55657385, 55657507], [55663990, 55664242], [55669146, 55669348], [55670497, 55670574], [55677797, 55677912], [55681562, 55681631], [55700418, 55700708]] [[55648417, 55648607], [55651736, 55653142], [55657385, 55657507], [55663990, 55664242], [55669146, 55669348], [55670497, 55670574], [55677797, 55677912], [55681562, 55681622]]
NM_001204451 [[55647420, 55648607], [55651736, 55651888], [55653037, 55653142], [55657385, 55657507], [55663990, 55664242], [55669146, 55669348], [55670497, 55670574], [55677797, 55677912], [55681562, 55681631], [55700418, 55700708]] [[55648417, 55648607], [55651736, 55651888], [55653037, 55653142], [55657385, 55657507], [55663990, 55664242], [55669146, 55669348], [55670497, 55670574], [55677797, 55677912], [55681562, 55681622]]
Promoter
Chrom Start End Description
chr15 55652769 55652784 CAGE_peak_5_at_CCPG1_5end
chr15 55652847 55652859 CAGE_peak_8_at_CCPG1_5end
chr15 55700216 55700293 CAGE_peak_4_at_CCPG1_5end
chr15 55700348 55700388 CAGE_peak_6_at_CCPG1_5end
chr15 55700459 55700520 CAGE_peak_1_at_CCPG1_5end,CAGE_peak_1_at_DYX1C1-CCPG1_5end,CAGE_peak_1_at_DYX1C1_5end
chr15 55700522 55700573 CAGE_peak_2_at_CCPG1_5end,CAGE_peak_2_at_DYX1C1-CCPG1_5end,CAGE_peak_2_at_DYX1C1_5end
chr15 55790515 55790605 CAGE_peak_3_at_CCPG1_5end,CAGE_peak_3_at_DYX1C1-CCPG1_5end,CAGE_peak_3_at_DYX1C1_5end
chr15 55790788 55790791 CAGE_peak_28_at_CCPG1_5end,CAGE_peak_5_at_DYX1C1-CCPG1_5end,CAGE_peak_5_at_DYX1C1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I055391 55391890 55391949 0.5 [{'connected_gene': 'CCPG1', 'score': 550.37}, {'connected_gene': 'GC15M057427', 'score': 0.44}, {'connected_gene': 'MIR628', 'score': 0.37}, {'connected_gene': 'DNAAF4-CCPG1', 'score': 0.14}]
chr15 GH15I055395 55395000 55395200 0.43 [{'connected_gene': 'MIR628', 'score': 11.53}, {'connected_gene': 'GC15M057427', 'score': 0.77}, {'connected_gene': 'CCPG1', 'score': 0.39}, {'connected_gene': 'DNAAF4-CCPG1', 'score': 0.15}]
chr15 GH15I055394 55394803 55394952 0.49 [{'connected_gene': 'MIR628', 'score': 11.53}, {'connected_gene': 'C15orf65', 'score': 7.85}, {'connected_gene': 'DNAAF4', 'score': 4.72}, {'connected_gene': 'GC15M057427', 'score': 0.77}, {'connected_gene': 'CCPG1', 'score': 0.39}, {'connected_gene': 'DNAAF4-CCPG1', 'score': 0.15}]
chr15 GH15I055288 55288097 55291177 2.49 [{'connected_gene': 'RAB27A', 'score': 566.34}, {'connected_gene': 'ENSG00000276533', 'score': 550.77}, {'connected_gene': 'PIGB', 'score': 21.29}, {'connected_gene': 'RFX7', 'score': 10.77}, {'connected_gene': 'PIGBOS1', 'score': 10.69}, {'connected_gene': 'DNAAF4', 'score': 9.22}, {'connected_gene': 'CCPG1', 'score': 2.88}, {'connected_gene': 'PIR62136', 'score': 0.34}]
chr15 GH15I055248 55248602 55254343 1.53 [{'connected_gene': 'RAB27A', 'score': 13.57}, {'connected_gene': 'RSL24D1', 'score': 11.24}, {'connected_gene': 'PIGB', 'score': 6.24}, {'connected_gene': 'PYGO1', 'score': 4.77}, {'connected_gene': 'CCPG1', 'score': 4.24}, {'connected_gene': 'GC15M057438', 'score': 0.31}, {'connected_gene': 'GC15P055286', 'score': 0.29}]
chr15 GH15I055388 55388595 55389941 0.54 [{'connected_gene': 'C15orf65', 'score': 9.82}, {'connected_gene': 'PIGB', 'score': 5.45}, {'connected_gene': 'GC15M057427', 'score': 0.44}, {'connected_gene': 'MIR628', 'score': 0.37}, {'connected_gene': 'CCPG1', 'score': 0.37}, {'connected_gene': 'DNAAF4-CCPG1', 'score': 0.14}]
chr15 GH15I055401 55401729 55409389 2.1 [{'connected_gene': 'C15orf65', 'score': 560.67}, {'connected_gene': 'CCPG1', 'score': 550.77}, {'connected_gene': 'RSL24D1', 'score': 23.81}, {'connected_gene': 'NEDD4', 'score': 11.87}, {'connected_gene': 'PYGO1', 'score': 11.58}, {'connected_gene': 'DNAAF4', 'score': 11.28}, {'connected_gene': 'PIGBOS1', 'score': 10.62}, {'connected_gene': 'PIGB', 'score': 7.14}, {'connected_gene': 'GC15M057427', 'score': 0.44}, {'connected_gene': 'DNAAF4-CCPG1', 'score': 0.16}]
chr15 GH15I055344 55344363 55344512 0.31 [{'connected_gene': 'ENSG00000274765', 'score': 550.77}, {'connected_gene': 'MIR628', 'score': 11.95}, {'connected_gene': 'ENSG00000277548', 'score': 0.77}, {'connected_gene': 'PIGB', 'score': 0.31}, {'connected_gene': 'CCPG1', 'score': 0.21}]
chr15 GH15I055396 55396659 55397557 0.87 [{'connected_gene': 'GC15M057427', 'score': 550.77}, {'connected_gene': 'MIR628', 'score': 13.11}, {'connected_gene': 'C15orf65', 'score': 10.86}, {'connected_gene': 'PIGB', 'score': 7.05}, {'connected_gene': 'DNAAF4', 'score': 6.32}, {'connected_gene': 'CCPG1', 'score': 0.39}, {'connected_gene': 'DNAAF4-CCPG1', 'score': 0.15}]
chr15 GH15I055220 55220175 55223539 1.6 [{'connected_gene': 'GC15M057438', 'score': 550.77}, {'connected_gene': 'RAB27A', 'score': 21.56}, {'connected_gene': 'PIGB', 'score': 9.62}, {'connected_gene': 'CCPG1', 'score': 5.99}, {'connected_gene': 'RSL24D1', 'score': 0.34}]

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