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
ENST00000534993 [[24439147, 24439541], [24459390, 24459568], [24464240, 24464342], [24473545, 24473601], [24475094, 24475608]] [[24459565, 24459568], [24464240, 24464342], [24473545, 24473601], [24475094, 24475209]]
ENST00000543805 [[24439147, 24439541], [24459390, 24459568], [24473545, 24473601], [24475094, 24475610]] [[24459565, 24459568], [24473545, 24473601], [24475094, 24475209]]
ENST00000397071 [[24458026, 24458284], [24459390, 24459568], [24464240, 24464342], [24473545, 24473601], [24475094, 24475617]] [[24458156, 24458284], [24459390, 24459568], [24464240, 24464342], [24473545, 24473601], [24475094, 24475209]]
ENST00000559411 [[24458030, 24458284], [24459390, 24459568], [24464240, 24464342], [24470071, 24470142], [24470241, 24470293], [24470592, 24470726], [24475094, 24475157]] [[24458156, 24458284], [24459390, 24459568], [24464240, 24464342], [24470071, 24470142], [24470241, 24470293], [24470592, 24470726], [24475094, 24475157]]
ENST00000335125 [[24458030, 24458284], [24459390, 24459568], [24464240, 24464342], [24470071, 24470142], [24470241, 24470293], [24470592, 24470726], [24473545, 24473601], [24475094, 24475617]] [[24458156, 24458284], [24459390, 24459568], [24464240, 24464342], [24470071, 24470142], [24470241, 24470293], [24470592, 24470726], [24473545, 24473579]]
ENST00000558753 [[24458096, 24458284], [24459390, 24459568], [24470592, 24470726], [24473545, 24473601]] [[24458156, 24458284], [24459390, 24459568], [24470592, 24470726], [24473545, 24473579]]
ENST00000537912 [[24458096, 24458284], [24459390, 24459568], [24470592, 24470726], [24473545, 24473963]] [[24458156, 24458284], [24459390, 24459568], [24470592, 24470726], [24473545, 24473579]]
ENST00000545240 [[24458156, 24458284], [24459390, 24459568], [24464240, 24464342], [24473545, 24474458]] [[24458156, 24458284], [24459390, 24459568], [24464240, 24464342], [24473545, 24473605]]
ENST00000382755 [[24458162, 24458284], [24459390, 24459568], [24464240, 24464342], [24470071, 24470142], [24470241, 24470293], [24470592, 24470726], [24475094, 24475610]] [[24458162, 24458284], [24459390, 24459568], [24464240, 24464342], [24470071, 24470142], [24470241, 24470293], [24470592, 24470726], [24475094, 24475209]]
ENST00000559387 [[24459390, 24459568], [24459983, 24460161], [24464240, 24464342], [24470071, 24470142], [24470241, 24470286]] [[24464312, 24464342], [24470071, 24470142], [24470241, 24470286]]
ENST00000557812 [[24459499, 24459568], [24470071, 24470293], [24470592, 24470726], [24473545, 24473601], [24475094, 24475124]] None
ENST00000560276 [[24464305, 24464342], [24470071, 24470142], [24470241, 24470293], [24470592, 24470726], [24473545, 24473601], [24475094, 24475157]] [[24464305, 24464342], [24470071, 24470142], [24470241, 24470293], [24470592, 24470726], [24473545, 24473579]]
NM_001193637 [[24439082, 24439541], [24459390, 24459568], [24464240, 24464342], [24470592, 24470726], [24473545, 24473601], [24475094, 24475617]] [[24459565, 24459568], [24464240, 24464342], [24470592, 24470726], [24473545, 24473579]]
NM_001193636 [[24439082, 24439541], [24459390, 24459568], [24464240, 24464342], [24470071, 24470142], [24470241, 24470293], [24470592, 24470726], [24473545, 24473601], [24475094, 24475617]] [[24459565, 24459568], [24464240, 24464342], [24470071, 24470142], [24470241, 24470293], [24470592, 24470726], [24473545, 24473579]]
NM_001193635 [[24439223, 24439345], [24439463, 24439541], [24456364, 24456482], [24459390, 24459568], [24470071, 24470142], [24470241, 24470293], [24470592, 24470726], [24473545, 24473601], [24475094, 24475617]] [[24456438, 24456482], [24459390, 24459568], [24470071, 24470142], [24470241, 24470293], [24470592, 24470726], [24473545, 24473579]]
NM_198083 [[24458026, 24458284], [24459390, 24459568], [24464240, 24464342], [24470071, 24470142], [24470241, 24470293], [24470592, 24470726], [24473545, 24473601], [24475094, 24475617]] [[24458156, 24458284], [24459390, 24459568], [24464240, 24464342], [24470071, 24470142], [24470241, 24470293], [24470592, 24470726], [24473545, 24473579]]
Promoter
Chrom Start End Description
chr14 24422938 24422986 CAGE_peak_1_at_DHRS4L2_5end,CAGE_peak_1_at_DHRS4_5end
chr14 24439161 24439196 CAGE_peak_4_at_DHRS4L2_5end
chr14 24458021 24458046 CAGE_peak_5_at_DHRS4L2_5end
chr14 24458093 24458114 CAGE_peak_3_at_DHRS4L2_5end
chr14 24458123 24458144 CAGE_peak_2_at_DHRS4L2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I023536 23536306 23540137 1.42 [{'connected_gene': 'AP1G2', 'score': 24.46}, {'connected_gene': 'THTPA', 'score': 11.78}, {'connected_gene': 'MYH6', 'score': 10.17}, {'connected_gene': 'ZFHX2', 'score': 5.62}, {'connected_gene': 'JPH4', 'score': 3.65}, {'connected_gene': 'CMTM5', 'score': 2.93}, {'connected_gene': 'SLC22A17', 'score': 2.23}, {'connected_gene': 'DHRS4L2', 'score': 1.54}, {'connected_gene': 'ENSG00000273618', 'score': 0.44}, {'connected_gene': 'ZFHX2-AS1', 'score': 0.31}]
chr14 GH14I024187 24187003 24189616 1.83 [{'connected_gene': 'IPO4', 'score': 569.28}, {'connected_gene': 'NGDN', 'score': 66.93}, {'connected_gene': 'RNA5SP383', 'score': 43.21}, {'connected_gene': 'KHNYN', 'score': 41.17}, {'connected_gene': 'RNF31', 'score': 39.97}, {'connected_gene': 'NFATC4', 'score': 36.33}, {'connected_gene': 'LOC102724814', 'score': 33.71}, {'connected_gene': 'ENSG00000259321', 'score': 23.33}, {'connected_gene': 'SDR39U1', 'score': 21.94}, {'connected_gene': 'SLC22A17', 'score': 21.61}, {'connected_gene': 'NYNRIN', 'score': 20.91}, {'connected_gene': 'CIDEB', 'score': 19.83}, {'connected_gene': 'NOP9', 'score': 19.01}, {'connected_gene': 'EFS', 'score': 17.98}, {'connected_gene': 'TM9SF1', 'score': 12.94}, {'connected_gene': 'JPH4', 'score': 12.72}, {'connected_gene': 'TSSK4', 'score': 11.95}, {'connected_gene': 'TINF2', 'score': 11.77}, {'connected_gene': 'BCL2L2-PABPN1', 'score': 10.83}, {'connected_gene': 'RABGGTA', 'score': 10.18}, {'connected_gene': 'BCL2L2', 'score': 9.99}, {'connected_gene': 'HOMEZ', 'score': 9.85}, {'connected_gene': 'DHRS4L2', 'score': 5.43}, {'connected_gene': 'EMC9', 'score': 5.16}, {'connected_gene': 'ENSG00000259522', 'score': 0.77}, {'connected_gene': 'PIR48221', 'score': 0.77}, {'connected_gene': 'ENSG00000254692', 'score': 0.31}]
chr14 GH14I024001 24001601 24002053 0.31 [{'connected_gene': 'DHRS4L1', 'score': 0.44}, {'connected_gene': 'DHRS4-AS1', 'score': 0.39}, {'connected_gene': 'DHRS4L2', 'score': 0.29}]
chr14 GH14I024006 24006001 24008000 1.03 [{'connected_gene': 'DHRS4L1', 'score': 550.77}, {'connected_gene': 'DHRS4L2', 'score': 17.16}, {'connected_gene': 'C14orf93', 'score': 5.94}, {'connected_gene': 'ADCY4', 'score': 4.95}, {'connected_gene': 'DHRS4-AS1', 'score': 0.37}]
chr14 GH14I024004 24004001 24004600 0.2 [{'connected_gene': 'DHRS4-AS1', 'score': 5.51}, {'connected_gene': 'DHRS4L1', 'score': 0.77}, {'connected_gene': 'DHRS4L2', 'score': 0.29}]
chr14 GH14I023990 23990272 23990307 0.38 [{'connected_gene': 'DHRS4-AS1', 'score': 550.77}, {'connected_gene': 'PIR45783', 'score': 550.77}, {'connected_gene': 'DHRS4L2', 'score': 12.94}, {'connected_gene': 'DHRS4L1', 'score': 0.37}]
chr14 GH14I023986 23986552 23987265 0.66 [{'connected_gene': 'DHRS4-AS1', 'score': 550.77}, {'connected_gene': 'PIR45783', 'score': 550.77}, {'connected_gene': 'DHRS4', 'score': 14.72}, {'connected_gene': 'TM9SF1', 'score': 9.55}, {'connected_gene': 'ENSG00000254692', 'score': 9.55}, {'connected_gene': 'CHMP4A', 'score': 9.55}, {'connected_gene': 'DHRS4L2', 'score': 9.32}]
chr14 GH14I023969 23969800 23970401 1.61 [{'connected_gene': 'DHRS4L2', 'score': 564.52}, {'connected_gene': 'DHRS4L1', 'score': 8.3}, {'connected_gene': 'NYNRIN', 'score': 6.08}, {'connected_gene': 'DHRS4-AS1', 'score': 0.37}, {'connected_gene': 'PIR45783', 'score': 0.37}]
chr14 GH14I023876 23876131 23877302 0.49 [{'connected_gene': 'DHRS4L2', 'score': 6.34}, {'connected_gene': 'DHRS4-AS1', 'score': 5.42}, {'connected_gene': 'LOC728667', 'score': 0.25}, {'connected_gene': 'LOC105370411', 'score': 0.23}, {'connected_gene': 'LINC00596', 'score': 0.22}]
chr14 GH14I023988 23988288 23990145 1.85 [{'connected_gene': 'DHRS4L2', 'score': 569.44}, {'connected_gene': 'DHRS4-AS1', 'score': 555.99}, {'connected_gene': 'PIR45783', 'score': 550.77}, {'connected_gene': 'DHRS4L1', 'score': 7.93}]
chr14 GH14I023966 23966201 23967400 0.38 [{'connected_gene': 'DHRS4L2', 'score': 21.12}, {'connected_gene': 'DHRS4', 'score': 0.39}, {'connected_gene': 'DHRS4-AS1', 'score': 0.34}]
chr14 GH14I024032 24032828 24033841 1.11 [{'connected_gene': 'DHRS4L2', 'score': 13.43}, {'connected_gene': 'DHRS4', 'score': 10.98}, {'connected_gene': 'PCK2', 'score': 10.93}, {'connected_gene': 'NRL', 'score': 10.9}, {'connected_gene': 'PIR58946', 'score': 0.77}, {'connected_gene': 'DHRS4L1', 'score': 0.31}]
chr14 GH14I023981 23981745 23982750 0.81 [{'connected_gene': 'DHRS4L2', 'score': 11.75}, {'connected_gene': 'TM9SF1', 'score': 9.55}, {'connected_gene': 'ENSG00000254692', 'score': 9.54}, {'connected_gene': 'CHMP4A', 'score': 9.54}, {'connected_gene': 'DHRS4', 'score': 6.98}, {'connected_gene': 'DHRS4-AS1', 'score': 0.44}, {'connected_gene': 'PIR45783', 'score': 0.44}]
chr14 GH14I023931 23931858 23932627 0.75 [{'connected_gene': 'DHRS4L2', 'score': 16.4}, {'connected_gene': 'LOC105370411', 'score': 0.77}, {'connected_gene': 'LINC00596', 'score': 0.77}]
chr14 GH14I023170 23170646 23175923 1.24 [{'connected_gene': 'SLC7A8', 'score': 5.71}, {'connected_gene': 'DHRS4L2', 'score': 4.71}, {'connected_gene': 'RNU6-1138P', 'score': 0.37}]
chr14 GH14I023692 23692043 23697716 1.16 [{'connected_gene': 'KHNYN', 'score': 21.83}, {'connected_gene': 'ACIN1', 'score': 19.29}, {'connected_gene': 'RNA5SP383', 'score': 15.83}, {'connected_gene': 'TM9SF1', 'score': 14.36}, {'connected_gene': 'RNF31', 'score': 14.04}, {'connected_gene': 'TINF2', 'score': 13.18}, {'connected_gene': 'LOC102724814', 'score': 13.04}, {'connected_gene': 'CIDEB', 'score': 12.88}, {'connected_gene': 'PRMT5', 'score': 12.25}, {'connected_gene': 'RBM23', 'score': 12.17}, {'connected_gene': 'HAUS4', 'score': 11.82}, {'connected_gene': 'C14orf93', 'score': 11.72}, {'connected_gene': 'NGDN', 'score': 11.11}, {'connected_gene': 'MMP14', 'score': 10.64}, {'connected_gene': 'ENSG00000259321', 'score': 10.1}, {'connected_gene': 'DHRS2', 'score': 6.74}, {'connected_gene': 'SLC22A17', 'score': 4.73}, {'connected_gene': 'DHRS4L2', 'score': 4.45}, {'connected_gene': 'LOC105370408', 'score': 0.77}, {'connected_gene': 'LOC105370410', 'score': 0.77}]
chr14 GH14I023544 23544279 23546314 1.41 [{'connected_gene': 'ACIN1', 'score': 32.53}, {'connected_gene': 'KHNYN', 'score': 29.6}, {'connected_gene': 'NGDN', 'score': 27.39}, {'connected_gene': 'RNF31', 'score': 24.66}, {'connected_gene': 'RNA5SP383', 'score': 24.26}, {'connected_gene': 'PRMT5', 'score': 22.28}, {'connected_gene': 'RBM23', 'score': 20.62}, {'connected_gene': 'PRMT5-AS1', 'score': 17.6}, {'connected_gene': 'TSSK4', 'score': 14.36}, {'connected_gene': 'TM9SF1', 'score': 14.36}, {'connected_gene': 'NYNRIN', 'score': 13.33}, {'connected_gene': 'LOC102724814', 'score': 13.29}, {'connected_gene': 'TINF2', 'score': 13.17}, {'connected_gene': 'CIDEB', 'score': 12.88}, {'connected_gene': 'SLC7A8', 'score': 11.86}, {'connected_gene': 'HAUS4', 'score': 11.82}, {'connected_gene': 'C14orf93', 'score': 11.72}, {'connected_gene': 'SDR39U1', 'score': 10.87}, {'connected_gene': 'MMP14', 'score': 10.64}, {'connected_gene': 'PABPN1', 'score': 10.42}, {'connected_gene': 'ENSG00000259321', 'score': 10.09}, {'connected_gene': 'NOP9', 'score': 9.99}, {'connected_gene': 'NFATC4', 'score': 9.96}, {'connected_gene': 'IPO4', 'score': 9.77}, {'connected_gene': 'AP1G2', 'score': 9.57}, {'connected_gene': 'JPH4', 'score': 7.13}, {'connected_gene': 'ZFHX2', 'score': 5.8}, {'connected_gene': 'SLC22A17', 'score': 5.0}, {'connected_gene': 'CMTM5', 'score': 2.48}, {'connected_gene': 'DHRS4L2', 'score': 2.16}, {'connected_gene': 'BCL2L2', 'score': 1.71}, {'connected_gene': 'THTPA', 'score': 1.45}, {'connected_gene': 'ENSG00000273618', 'score': 0.39}, {'connected_gene': 'ZFHX2-AS1', 'score': 0.29}]
chr14 GH14I023159 23159877 23165041 1.39 [{'connected_gene': 'CMTM5', 'score': 10.49}, {'connected_gene': 'ACIN1', 'score': 10.16}, {'connected_gene': 'RNF31', 'score': 9.82}, {'connected_gene': 'PSMB5', 'score': 5.26}, {'connected_gene': 'DHRS4L1', 'score': 4.66}, {'connected_gene': 'DHRS4L2', 'score': 4.47}, {'connected_gene': 'RNU6-1138P', 'score': 0.44}, {'connected_gene': 'SLC7A8', 'score': 0.34}]
chr14 GH14I023953 23953089 23955119 2.06 [{'connected_gene': 'DHRS4', 'score': 582.01}, {'connected_gene': 'ACIN1', 'score': 62.69}, {'connected_gene': 'SDR39U1', 'score': 40.64}, {'connected_gene': 'NGDN', 'score': 39.52}, {'connected_gene': 'RNA5SP383', 'score': 38.71}, {'connected_gene': 'RNF31', 'score': 36.86}, {'connected_gene': 'KHNYN', 'score': 36.84}, {'connected_gene': 'TSSK4', 'score': 36.15}, {'connected_gene': 'DHRS4-AS1', 'score': 31.17}, {'connected_gene': 'PABPN1', 'score': 30.43}, {'connected_gene': 'LOC102724814', 'score': 23.84}, {'connected_gene': 'ENSG00000259321', 'score': 21.99}, {'connected_gene': 'SLC22A17', 'score': 21.61}, {'connected_gene': 'IPO4', 'score': 18.34}, {'connected_gene': 'NOP9', 'score': 18.14}, {'connected_gene': 'C14orf93', 'score': 16.3}, {'connected_gene': 'NYNRIN', 'score': 13.35}, {'connected_gene': 'JPH4', 'score': 12.74}, {'connected_gene': 'TM9SF1', 'score': 12.57}, {'connected_gene': 'SLC7A8', 'score': 11.84}, {'connected_gene': 'CIDEB', 'score': 11.75}, {'connected_gene': 'TINF2', 'score': 11.6}, {'connected_gene': 'HAUS4', 'score': 11.58}, {'connected_gene': 'MDP1', 'score': 11.15}, {'connected_gene': 'BCL2L2-PABPN1', 'score': 10.83}, {'connected_gene': 'BCL2L2', 'score': 9.99}, {'connected_gene': 'NFATC4', 'score': 9.98}, {'connected_gene': 'HOMEZ', 'score': 9.86}, {'connected_gene': 'DHRS4L2', 'score': 0.37}]
chr14 GH14I023984 23984903 23986001 1.06 [{'connected_gene': 'TM9SF1', 'score': 9.55}, {'connected_gene': 'ENSG00000254692', 'score': 9.55}, {'connected_gene': 'CHMP4A', 'score': 9.55}, {'connected_gene': 'DHRS4', 'score': 4.71}, {'connected_gene': 'DHRS4L2', 'score': 1.63}, {'connected_gene': 'DHRS4-AS1', 'score': 0.77}, {'connected_gene': 'PIR45783', 'score': 0.77}]
chr14 GH14I023207 23206932 23208374 0.46 [{'connected_gene': 'RNF212B', 'score': 12.39}, {'connected_gene': 'SLC7A8', 'score': 12.39}, {'connected_gene': 'CEBPE', 'score': 11.08}, {'connected_gene': 'MIR208B', 'score': 10.13}, {'connected_gene': 'SLC22A17', 'score': 10.1}, {'connected_gene': 'ACIN1', 'score': 10.05}, {'connected_gene': 'MYH6', 'score': 9.79}, {'connected_gene': 'BCL2L2', 'score': 9.54}, {'connected_gene': 'HOMEZ', 'score': 9.54}, {'connected_gene': 'PPP1R3E', 'score': 9.54}, {'connected_gene': 'DHRS4', 'score': 4.91}, {'connected_gene': 'DHRS4L2', 'score': 4.85}, {'connected_gene': 'LOC105370406', 'score': 0.44}]
chr14 GH14I024035 24035732 24037461 1.53 [{'connected_gene': 'PIR58946', 'score': 550.77}, {'connected_gene': 'ACIN1', 'score': 21.66}, {'connected_gene': 'DHRS4L1', 'score': 19.2}, {'connected_gene': 'RNA5SP383', 'score': 15.87}, {'connected_gene': 'KHNYN', 'score': 15.64}, {'connected_gene': 'TM9SF1', 'score': 14.71}, {'connected_gene': 'C14orf119', 'score': 13.49}, {'connected_gene': 'LOC102724814', 'score': 12.71}, {'connected_gene': 'DHRS4L2', 'score': 12.67}, {'connected_gene': 'RNF31', 'score': 12.58}, {'connected_gene': 'TINF2', 'score': 12.3}, {'connected_gene': 'PABPN1', 'score': 11.78}, {'connected_gene': 'DHRS4', 'score': 11.75}, {'connected_gene': 'PCK2', 'score': 11.3}, {'connected_gene': 'NRL', 'score': 11.26}, {'connected_gene': 'HOMEZ', 'score': 9.85}, {'connected_gene': 'CIDEB', 'score': 9.77}, {'connected_gene': 'CDH24', 'score': 9.69}, {'connected_gene': 'DHRS4-AS1', 'score': 4.54}]

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