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
ENST00000236273 [[25549169, 25549922], [25551492, 25551591], [25553932, 25554023], [25554608, 25554726], [25555488, 25555614], [25558594, 25558702], [25558934, 25558984]] [[25549756, 25549922], [25551492, 25551591], [25553932, 25554023], [25554608, 25554726], [25555488, 25555614], [25558594, 25558702], [25558934, 25558958]]
ENST00000354361 [[25549455, 25549922], [25551492, 25551591], [25553932, 25554023], [25554608, 25554726], [25558594, 25558702], [25558934, 25558977]] [[25549756, 25549922], [25551492, 25551591], [25553932, 25554023], [25554608, 25554726], [25558594, 25558702], [25558934, 25558958]]
ENST00000474160 [[25555505, 25555614], [25558594, 25558923]] None
ENST00000476231 [[25556799, 25558702], [25558934, 25558993]] None
NM_015484 [[25548766, 25549922], [25551492, 25551591], [25553932, 25554023], [25554608, 25554726], [25555488, 25555614], [25558594, 25558702], [25558934, 25559013]] [[25549756, 25549922], [25551492, 25551591], [25553932, 25554023], [25554608, 25554726], [25555488, 25555614], [25558594, 25558702], [25558934, 25558958]]
NM_207170 [[25548766, 25549922], [25551492, 25551591], [25553932, 25554023], [25554608, 25554726], [25558594, 25558702], [25558934, 25559013]] [[25549756, 25549922], [25551492, 25551591], [25553932, 25554023], [25554608, 25554726], [25558594, 25558702], [25558934, 25558958]]
Promoter
Chrom Start End Description
chr1 25558643 25558666 CAGE_peak_3_at_SYF2_5end
chr1 25558670 25558684 CAGE_peak_4_at_SYF2_5end
chr1 25558837 25558862 CAGE_peak_5_at_SYF2_5end
chr1 25558963 25558980 CAGE_peak_2_at_SYF2_5end
chr1 25558984 25559000 CAGE_peak_1_at_SYF2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I024414 24414607 24419934 2.45 [{'connected_gene': 'STPG1', 'score': 569.18}, {'connected_gene': 'NIPAL3', 'score': 565.59}, {'connected_gene': 'SRRM1', 'score': 33.47}, {'connected_gene': 'SRSF10', 'score': 21.7}, {'connected_gene': 'ELOA', 'score': 11.86}, {'connected_gene': 'RCAN3', 'score': 10.79}, {'connected_gene': 'SYF2', 'score': 10.31}, {'connected_gene': 'NCMAP', 'score': 10.17}, {'connected_gene': 'ENSG00000261349', 'score': 10.04}, {'connected_gene': 'GC01P024477', 'score': 0.22}]
chr1 GH01I024961 24961995 24967647 2.1 [{'connected_gene': 'RUNX3', 'score': 552.92}, {'connected_gene': 'SELENON', 'score': 4.8}, {'connected_gene': 'RSRP1', 'score': 3.94}, {'connected_gene': 'SYF2', 'score': 2.19}, {'connected_gene': 'GC01M024954', 'score': 0.44}, {'connected_gene': 'GC01M024956', 'score': 0.44}, {'connected_gene': 'GC01M024930', 'score': 0.39}, {'connected_gene': 'GC01M024955', 'score': 0.31}, {'connected_gene': 'PIR43315', 'score': 0.31}, {'connected_gene': 'LOC105376878', 'score': 0.29}]
chr1 GH01I025017 25017538 25018400 1.16 [{'connected_gene': 'RUNX3', 'score': 2.63}, {'connected_gene': 'RSRP1', 'score': 2.43}, {'connected_gene': 'SYF2', 'score': 1.47}, {'connected_gene': 'MIR4425', 'score': 0.44}, {'connected_gene': 'GC01M024955', 'score': 0.31}]
chr1 GH01I025028 25028663 25029607 1.41 [{'connected_gene': 'RUNX3', 'score': 16.52}, {'connected_gene': 'LOC105376878', 'score': 12.09}, {'connected_gene': 'MAN1C1', 'score': 4.12}, {'connected_gene': 'RSRP1', 'score': 3.65}, {'connected_gene': 'SYF2', 'score': 2.09}, {'connected_gene': 'MIR4425', 'score': 0.44}, {'connected_gene': 'LOC105376879', 'score': 0.39}]
chr1 GH01I025025 25025689 25025844 0.42 [{'connected_gene': 'RUNX3', 'score': 14.36}, {'connected_gene': 'LOC105376878', 'score': 11.97}, {'connected_gene': 'RSRP1', 'score': 2.15}, {'connected_gene': 'SYF2', 'score': 1.4}, {'connected_gene': 'MIR4425', 'score': 0.77}, {'connected_gene': 'LOC105376879', 'score': 0.37}]
chr1 GH01I024908 24908376 24931125 2.76 [{'connected_gene': 'RUNX3', 'score': 588.88}, {'connected_gene': 'MIR6731', 'score': 550.77}, {'connected_gene': 'RCAN3', 'score': 11.55}, {'connected_gene': 'SRSF10', 'score': 11.0}, {'connected_gene': 'ENSG00000231953', 'score': 10.8}, {'connected_gene': 'RNU6-1208P', 'score': 10.27}, {'connected_gene': 'RSRP1', 'score': 6.05}, {'connected_gene': 'ENSG00000225643', 'score': 5.85}, {'connected_gene': 'ENSG00000261349', 'score': 4.59}, {'connected_gene': 'SRRM1', 'score': 3.34}, {'connected_gene': 'SYF2', 'score': 1.94}, {'connected_gene': 'GC01M024929', 'score': 0.39}, {'connected_gene': 'GC01M024930', 'score': 0.22}]
chr1 GH01I026121 26121368 26129096 1.77 [{'connected_gene': 'ARID1A', 'score': 80.27}, {'connected_gene': 'HMGN2', 'score': 65.22}, {'connected_gene': 'LOC101928324', 'score': 53.24}, {'connected_gene': 'ENSG00000261349', 'score': 41.21}, {'connected_gene': 'TRIM63', 'score': 37.76}, {'connected_gene': 'SYF2', 'score': 32.28}, {'connected_gene': 'GPN2', 'score': 30.56}, {'connected_gene': 'ZNF593', 'score': 29.32}, {'connected_gene': 'LOC101928728', 'score': 23.9}, {'connected_gene': 'RPL17P9', 'score': 21.54}, {'connected_gene': 'FAM110D', 'score': 12.58}, {'connected_gene': 'PDIK1L', 'score': 11.67}, {'connected_gene': 'GPATCH3', 'score': 11.42}, {'connected_gene': 'ENSG00000236782', 'score': 11.31}, {'connected_gene': 'SLC30A2', 'score': 10.69}, {'connected_gene': 'PIGV', 'score': 10.45}, {'connected_gene': 'EXTL1', 'score': 10.14}, {'connected_gene': 'STMN1', 'score': 9.99}, {'connected_gene': 'CNKSR1', 'score': 6.54}, {'connected_gene': 'UBXN11', 'score': 4.33}, {'connected_gene': 'PAFAH2', 'score': 4.26}, {'connected_gene': 'CD52', 'score': 3.47}, {'connected_gene': 'RPS6KA1', 'score': 2.87}, {'connected_gene': 'CEP85', 'score': 2.12}, {'connected_gene': 'MTFR1L', 'score': 1.28}, {'connected_gene': 'LOC105376886', 'score': 0.77}]
chr1 GH01I025428 25428826 25432401 2.27 [{'connected_gene': 'RHCE', 'score': 599.48}, {'connected_gene': 'MACO1', 'score': 550.77}, {'connected_gene': 'SYF2', 'score': 20.03}, {'connected_gene': 'SRRM1', 'score': 11.51}, {'connected_gene': 'RHD', 'score': 4.87}]
chr1 GH01I025029 25027885 25028013 0.7 [{'connected_gene': 'RSRP1', 'score': 3.75}, {'connected_gene': 'RUNX3', 'score': 2.43}, {'connected_gene': 'SYF2', 'score': 2.06}, {'connected_gene': 'MIR4425', 'score': 0.77}, {'connected_gene': 'LOC105376879', 'score': 0.39}]
chr1 GH01I025027 25027049 25027378 1 [{'connected_gene': 'RSRP1', 'score': 4.2}, {'connected_gene': 'RUNX3', 'score': 2.87}, {'connected_gene': 'SYF2', 'score': 2.14}, {'connected_gene': 'MIR4425', 'score': 0.77}, {'connected_gene': 'LOC105376879', 'score': 0.39}]
chr1 GH01I025246 25245341 25248766 2.32 [{'connected_gene': 'RSRP1', 'score': 560.57}, {'connected_gene': 'ENSG00000272432', 'score': 550.77}, {'connected_gene': 'SRRM1', 'score': 37.81}, {'connected_gene': 'ENSG00000261349', 'score': 30.94}, {'connected_gene': 'SYF2', 'score': 27.97}, {'connected_gene': 'ZNF593', 'score': 18.02}, {'connected_gene': 'STPG1', 'score': 14.02}, {'connected_gene': 'MAN1C1', 'score': 10.11}, {'connected_gene': 'PAQR7', 'score': 9.87}, {'connected_gene': 'ENSG00000284657', 'score': 0.44}]
chr1 GH01I025817 25817688 25822374 2.27 [{'connected_gene': 'MTFR1L', 'score': 593.51}, {'connected_gene': 'SELENON', 'score': 30.21}, {'connected_gene': 'ARID1A', 'score': 18.63}, {'connected_gene': 'SYF2', 'score': 17.96}, {'connected_gene': 'HMGN2', 'score': 16.32}, {'connected_gene': 'PIGV', 'score': 13.67}, {'connected_gene': 'SH3BGRL3', 'score': 10.51}, {'connected_gene': 'LOC101928728', 'score': 10.47}, {'connected_gene': 'ENSG00000261349', 'score': 10.4}, {'connected_gene': 'RPS6KA1', 'score': 9.94}, {'connected_gene': 'RUNX3', 'score': 9.85}, {'connected_gene': 'LOC101928324', 'score': 9.73}, {'connected_gene': 'LOC646471', 'score': 0.77}, {'connected_gene': 'ENSG00000255054', 'score': 0.44}]
chr1 GH01I025995 25995761 26000145 2.37 [{'connected_gene': 'PAFAH2', 'score': 563.73}, {'connected_gene': 'ARID1A', 'score': 90.84}, {'connected_gene': 'HMGN2', 'score': 62.25}, {'connected_gene': 'LOC101928324', 'score': 38.15}, {'connected_gene': 'ENSG00000261349', 'score': 37.17}, {'connected_gene': 'SYF2', 'score': 32.48}, {'connected_gene': 'GPN2', 'score': 28.16}, {'connected_gene': 'ZNF593', 'score': 27.4}, {'connected_gene': 'LOC101928728', 'score': 23.0}, {'connected_gene': 'RPL17P9', 'score': 19.82}, {'connected_gene': 'SELENON', 'score': 12.13}, {'connected_gene': 'PAQR7', 'score': 11.76}, {'connected_gene': 'ENSG00000207302', 'score': 11.76}, {'connected_gene': 'EXTL1', 'score': 11.54}, {'connected_gene': 'TRIM63', 'score': 10.56}, {'connected_gene': 'PIGV', 'score': 10.45}, {'connected_gene': 'RSRP1', 'score': 10.44}, {'connected_gene': 'PIR35611', 'score': 0.34}, {'connected_gene': 'GC01M025975', 'score': 0.34}]
chr1 GH01I025231 25231221 25234219 2.56 [{'connected_gene': 'SYF2', 'score': 563.24}, {'connected_gene': 'ENSG00000284602', 'score': 550.77}, {'connected_gene': 'GC01P025233', 'score': 550.77}, {'connected_gene': 'RSRP1', 'score': 13.61}, {'connected_gene': 'RUNX3', 'score': 3.52}, {'connected_gene': 'ENSG00000284657', 'score': 0.44}]
chr1 GH01I026015 26015115 26023178 1.63 [{'connected_gene': 'EXTL1', 'score': 550.77}, {'connected_gene': 'GC01M026017', 'score': 550.77}, {'connected_gene': 'ARID1A', 'score': 18.19}, {'connected_gene': 'PAFAH2', 'score': 16.11}, {'connected_gene': 'HMGN2', 'score': 15.61}, {'connected_gene': 'SYF2', 'score': 13.48}, {'connected_gene': 'ENSG00000261349', 'score': 11.39}, {'connected_gene': 'LOC101928324', 'score': 10.99}, {'connected_gene': 'RPL17P9', 'score': 10.84}, {'connected_gene': 'LOC101928216', 'score': 0.37}]
chr1 GH01I025026 25026699 25026920 0.79 [{'connected_gene': 'MYOM3', 'score': 4.53}, {'connected_gene': 'RSRP1', 'score': 4.05}, {'connected_gene': 'RUNX3', 'score': 2.27}, {'connected_gene': 'SYF2', 'score': 2.08}, {'connected_gene': 'MIR4425', 'score': 0.77}, {'connected_gene': 'LOC105376879', 'score': 0.39}]
chr1 GH01I024699 24699190 24700199 0.78 [{'connected_gene': 'SRSF10', 'score': 14.49}, {'connected_gene': 'SYF2', 'score': 14.21}, {'connected_gene': 'PNRC2', 'score': 13.05}, {'connected_gene': 'SRRM1', 'score': 12.05}, {'connected_gene': 'ELOA', 'score': 10.89}, {'connected_gene': 'CLIC4', 'score': 8.25}, {'connected_gene': 'GC01P024703', 'score': 0.77}]
chr1 GH01I024283 24283047 24287442 1.07 [{'connected_gene': 'SRSF10', 'score': 17.56}, {'connected_gene': 'SRRM1', 'score': 17.07}, {'connected_gene': 'GRHL3', 'score': 11.74}, {'connected_gene': 'LOC105376871', 'score': 11.72}, {'connected_gene': 'PNRC2', 'score': 11.54}, {'connected_gene': 'ELOA', 'score': 11.14}, {'connected_gene': 'LINC01355', 'score': 10.79}, {'connected_gene': 'HNRNPR', 'score': 10.71}, {'connected_gene': 'RPL11', 'score': 10.39}, {'connected_gene': 'SYF2', 'score': 10.03}, {'connected_gene': 'GC01P024305', 'score': 0.34}, {'connected_gene': 'GC01M024359', 'score': 0.29}, {'connected_gene': 'PIR35234', 'score': 0.29}]
chr1 GH01I026200 26200355 26202995 1.42 [{'connected_gene': 'CNKSR1', 'score': 42.13}, {'connected_gene': 'ARID1A', 'score': 35.93}, {'connected_gene': 'HMGN2', 'score': 34.05}, {'connected_gene': 'SYF2', 'score': 28.65}, {'connected_gene': 'ENSG00000261349', 'score': 24.18}, {'connected_gene': 'TRIM63', 'score': 12.64}, {'connected_gene': 'RPL17P9', 'score': 10.74}, {'connected_gene': 'RSRP1', 'score': 10.44}, {'connected_gene': 'GPN2', 'score': 10.2}, {'connected_gene': 'LOC101928324', 'score': 9.76}, {'connected_gene': 'FAM110D', 'score': 8.89}, {'connected_gene': 'ZNF593', 'score': 8.33}, {'connected_gene': 'CD52', 'score': 3.29}, {'connected_gene': 'MTFR1L', 'score': 2.08}, {'connected_gene': 'PDIK1L', 'score': 1.67}, {'connected_gene': 'LOC101928303', 'score': 0.44}, {'connected_gene': 'CATSPER4', 'score': 0.39}]
chr1 GH01I025030 25030442 25036673 1.7 [{'connected_gene': 'SRRM1', 'score': 66.03}, {'connected_gene': 'MAN1C1', 'score': 23.27}, {'connected_gene': 'RUNX3', 'score': 17.35}, {'connected_gene': 'SYF2', 'score': 15.89}, {'connected_gene': 'LOC105376878', 'score': 12.03}, {'connected_gene': 'ENSG00000261349', 'score': 10.03}, {'connected_gene': 'STMN1', 'score': 9.94}, {'connected_gene': 'RSRP1', 'score': 5.75}, {'connected_gene': 'SDHDP6', 'score': 4.61}, {'connected_gene': 'LOC105376879', 'score': 0.44}, {'connected_gene': 'MIR4425', 'score': 0.39}]
chr1 GH01I024641 24641336 24645471 2.39 [{'connected_gene': 'SRRM1', 'score': 573.0}, {'connected_gene': 'SRSF10', 'score': 35.25}, {'connected_gene': 'ENSG00000261349', 'score': 21.38}, {'connected_gene': 'ELOA', 'score': 18.45}, {'connected_gene': 'NCMAP', 'score': 15.33}, {'connected_gene': 'SYF2', 'score': 13.48}, {'connected_gene': 'RPL11', 'score': 11.87}, {'connected_gene': 'PNRC2', 'score': 11.77}, {'connected_gene': 'FUCA1', 'score': 11.21}, {'connected_gene': 'MAN1C1', 'score': 10.09}, {'connected_gene': 'RUNX3', 'score': 1.89}, {'connected_gene': 'GC01P024703', 'score': 0.21}]
chr1 GH01I025020 25020264 25025121 1.67 [{'connected_gene': 'MIR4425', 'score': 550.77}, {'connected_gene': 'RUNX3', 'score': 21.78}, {'connected_gene': 'LOC105376878', 'score': 12.59}, {'connected_gene': 'RSRP1', 'score': 6.54}, {'connected_gene': 'SYF2', 'score': 3.71}, {'connected_gene': 'SRRM1', 'score': 1.48}, {'connected_gene': 'GC01M024955', 'score': 0.29}]
chr1 GH01I025858 25858278 25862859 2.55 [{'connected_gene': 'ENSG00000236528', 'score': 550.77}, {'connected_gene': 'AUNIP', 'score': 550.77}, {'connected_gene': 'ARID1A', 'score': 62.5}, {'connected_gene': 'HMGN2', 'score': 42.15}, {'connected_gene': 'MTFR1L', 'score': 39.99}, {'connected_gene': 'ENSG00000261349', 'score': 34.26}, {'connected_gene': 'SELENON', 'score': 29.25}, {'connected_gene': 'LOC101928324', 'score': 21.96}, {'connected_gene': 'RPL17P9', 'score': 20.87}, {'connected_gene': 'ZNF593', 'score': 13.59}, {'connected_gene': 'SYF2', 'score': 12.57}, {'connected_gene': 'LOC101928728', 'score': 11.68}, {'connected_gene': 'RSRP1', 'score': 10.44}, {'connected_gene': 'STMN1', 'score': 10.16}, {'connected_gene': 'PAQR7', 'score': 0.37}]
chr1 GH01I025640 25640691 25644084 1.04 [{'connected_gene': 'ENSG00000225643', 'score': 6.7}, {'connected_gene': 'MTFR1L', 'score': 4.74}, {'connected_gene': 'RSRP1', 'score': 4.52}, {'connected_gene': 'LDLRAP1', 'score': 4.33}, {'connected_gene': 'MAN1C1', 'score': 3.76}, {'connected_gene': 'PDIK1L', 'score': 2.19}, {'connected_gene': 'SYF2', 'score': 1.56}, {'connected_gene': 'MACO1', 'score': 1.51}, {'connected_gene': 'ENSG00000233478', 'score': 0.37}]
chr1 GH01I025238 25238705 25241527 1.76 [{'connected_gene': 'ENSG00000284657', 'score': 550.77}, {'connected_gene': 'SRRM1', 'score': 14.53}, {'connected_gene': 'SYF2', 'score': 11.8}, {'connected_gene': 'RHD', 'score': 4.88}, {'connected_gene': 'ENSG00000261349', 'score': 4.8}, {'connected_gene': 'EXTL1', 'score': 4.51}, {'connected_gene': 'MACO1', 'score': 1.92}, {'connected_gene': 'ENSG00000272432', 'score': 0.44}]

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