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
ENST00000393193 [[49230950, 49231023], [49233011, 49233141], [49237340, 49237442], [49238520, 49238633], [49244187, 49244317], [49245602, 49245704], [49247297, 49247410], [49248847, 49249105]] [[49233015, 49233141], [49237340, 49237442], [49238520, 49238633], [49244187, 49244317], [49245602, 49245704], [49247297, 49247410], [49248847, 49248965]]
ENST00000376392 [[49230964, 49231023], [49233011, 49233141], [49237340, 49237442], [49238520, 49238633], [49244187, 49244317], [49245602, 49245704], [49248847, 49249105]] [[49233015, 49233141], [49237340, 49237442], [49238520, 49238633], [49244187, 49244317], [49245602, 49245704], [49248847, 49248868]]
ENST00000555572 [[49230996, 49231023], [49231585, 49231805], [49233011, 49233141], [49237340, 49237442], [49238520, 49238633], [49244187, 49244317], [49245602, 49245704], [49247297, 49247410], [49248847, 49249103]] [[49231734, 49231805], [49233011, 49233141], [49237340, 49237442], [49238520, 49238633], [49244187, 49244317], [49245602, 49245704], [49247297, 49247410], [49248847, 49248965]]
NM_001018136 [[49230896, 49231023], [49233011, 49233141], [49237340, 49237442], [49238520, 49238633], [49244187, 49244317], [49245602, 49245704], [49247297, 49247410], [49248847, 49249105]] [[49233015, 49233141], [49237340, 49237442], [49238520, 49238633], [49244187, 49244317], [49245602, 49245704], [49247297, 49247410], [49248847, 49248965]]
NR_037149 [[49230896, 49231023], [49231585, 49231805], [49233011, 49233141], [49237340, 49237442], [49238520, 49238633], [49244187, 49244317], [49245602, 49245704], [49247297, 49247410], [49248847, 49249105]] None
Promoter
Chrom Start End Description
chr17 49230905 49231005 CAGE_peak_1_at_NME1_5end,CAGE_peak_3_at_NME1-NME2_5end,CAGE_peak_3_at_NME2_5end
chr17 49242884 49242925 CAGE_peak_4_at_NME1-NME2_5end,CAGE_peak_4_at_NME2_5end
chr17 49243212 49243223 CAGE_peak_6_at_NME1-NME2_5end,CAGE_peak_6_at_NME2_5end
chr17 49243759 49243787 CAGE_peak_1_at_NME1-NME2_5end,CAGE_peak_1_at_NME2_5end
chr17 49243792 49243828 CAGE_peak_2_at_NME1-NME2_5end,CAGE_peak_2_at_NME2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I051009 51009812 51010970 0.31 [{'connected_gene': 'SPAG9', 'score': 11.56}, {'connected_gene': 'NME1', 'score': 11.33}, {'connected_gene': 'NME1-NME2', 'score': 11.33}, {'connected_gene': 'NME2', 'score': 11.33}, {'connected_gene': 'WFIKKN2', 'score': 9.87}, {'connected_gene': 'ENSG00000249870', 'score': 0.29}, {'connected_gene': 'ENSG00000247011', 'score': 0.2}]
chr17 GH17I051005 51005802 51007430 0.2 [{'connected_gene': 'SPAG9', 'score': 11.56}, {'connected_gene': 'NME1', 'score': 11.32}, {'connected_gene': 'NME1-NME2', 'score': 11.32}, {'connected_gene': 'NME2', 'score': 11.31}, {'connected_gene': 'ENSG00000249870', 'score': 0.28}, {'connected_gene': 'ENSG00000247011', 'score': 0.21}]
chr17 GH17I051128 51128115 51128374 1.1 [{'connected_gene': 'SPAG9', 'score': 4.79}, {'connected_gene': 'NME1', 'score': 0.31}, {'connected_gene': 'NME1-NME2', 'score': 0.31}]
chr17 GH17I051118 51118360 51123378 2.34 [{'connected_gene': 'SPAG9', 'score': 550.77}, {'connected_gene': 'MBTD1', 'score': 25.58}, {'connected_gene': 'ENSG00000249870', 'score': 11.55}, {'connected_gene': 'LUC7L3', 'score': 10.0}, {'connected_gene': 'ENSG00000251665', 'score': 9.81}, {'connected_gene': 'UTP18', 'score': 5.89}, {'connected_gene': 'NME1', 'score': 0.29}, {'connected_gene': 'NME1-NME2', 'score': 0.29}]
chr17 GH17I051131 51131773 51133938 1.32 [{'connected_gene': 'NME1', 'score': 20.0}, {'connected_gene': 'SPAG9', 'score': 6.48}, {'connected_gene': 'NME1-NME2', 'score': 0.34}]
chr17 GH17I051152 51152247 51155110 2.17 [{'connected_gene': 'NME1', 'score': 587.63}, {'connected_gene': 'NME1-NME2', 'score': 550.77}, {'connected_gene': 'MBTD1', 'score': 97.87}, {'connected_gene': 'LUC7L3', 'score': 60.74}, {'connected_gene': 'UTP18', 'score': 35.06}, {'connected_gene': 'COL1A1', 'score': 27.89}, {'connected_gene': 'EME1', 'score': 21.22}, {'connected_gene': 'NME2', 'score': 19.81}, {'connected_gene': 'LOC105371824', 'score': 18.65}, {'connected_gene': 'CACNA1G-AS1', 'score': 13.09}, {'connected_gene': 'SPAG9', 'score': 13.03}, {'connected_gene': 'XYLT2', 'score': 9.85}]
chr17 GH17I051071 51071201 51071600 0.2 [{'connected_gene': 'NME1', 'score': 11.52}, {'connected_gene': 'NME1-NME2', 'score': 11.52}, {'connected_gene': 'NME2', 'score': 11.5}, {'connected_gene': 'ENSG00000249870', 'score': 0.31}, {'connected_gene': 'SPAG9', 'score': 0.25}]
chr17 GH17I051060 51060020 51060776 0.46 [{'connected_gene': 'NME1', 'score': 11.68}, {'connected_gene': 'NME1-NME2', 'score': 11.68}, {'connected_gene': 'NME2', 'score': 11.67}, {'connected_gene': 'ENSG00000249870', 'score': 10.61}, {'connected_gene': 'SPAG9', 'score': 0.21}]
chr17 GH17I051029 51029013 51031095 1.04 [{'connected_gene': 'NME1', 'score': 11.14}, {'connected_gene': 'NME1-NME2', 'score': 11.14}, {'connected_gene': 'NME2', 'score': 11.13}, {'connected_gene': 'ENSG00000251665', 'score': 10.06}, {'connected_gene': 'ENSG00000249870', 'score': 0.39}, {'connected_gene': 'ENSG00000247011', 'score': 0.17}, {'connected_gene': 'SPAG9', 'score': 0.16}]
chr17 GH17I051049 51049001 51049200 0.54 [{'connected_gene': 'NME1', 'score': 11.54}, {'connected_gene': 'NME1-NME2', 'score': 11.54}, {'connected_gene': 'NME2', 'score': 11.52}, {'connected_gene': 'WFIKKN2', 'score': 9.0}, {'connected_gene': 'ENSG00000249870', 'score': 0.44}, {'connected_gene': 'SPAG9', 'score': 0.19}]
chr17 GH17I051050 51050480 51050629 0.63 [{'connected_gene': 'NME1', 'score': 11.54}, {'connected_gene': 'NME1-NME2', 'score': 11.54}, {'connected_gene': 'NME2', 'score': 11.53}, {'connected_gene': 'WFIKKN2', 'score': 9.01}, {'connected_gene': 'ENSG00000249870', 'score': 0.44}, {'connected_gene': 'SPAG9', 'score': 0.19}]
chr17 GH17I051051 51050740 51050889 0.7 [{'connected_gene': 'NME1', 'score': 11.54}, {'connected_gene': 'NME1-NME2', 'score': 11.54}, {'connected_gene': 'NME2', 'score': 11.53}, {'connected_gene': 'WFIKKN2', 'score': 9.01}, {'connected_gene': 'ENSG00000249870', 'score': 0.44}, {'connected_gene': 'SPAG9', 'score': 0.19}]
chr17 GH17I051056 51056353 51058271 1.09 [{'connected_gene': 'NME1', 'score': 11.55}, {'connected_gene': 'NME1-NME2', 'score': 11.55}, {'connected_gene': 'NME2', 'score': 11.54}, {'connected_gene': 'ENSG00000251665', 'score': 10.27}, {'connected_gene': 'WFIKKN2', 'score': 9.06}, {'connected_gene': 'ENSG00000249870', 'score': 0.39}, {'connected_gene': 'SPAG9', 'score': 0.21}]
chr17 GH17I051155 51155578 51155637 0.5 [{'connected_gene': 'NME1', 'score': 550.77}, {'connected_gene': 'NME1-NME2', 'score': 0.77}, {'connected_gene': 'NME2', 'score': 0.44}]
chr17 GH17I051143 51143729 51145234 0.72 [{'connected_gene': 'NME1', 'score': 24.01}, {'connected_gene': 'UTP18', 'score': 6.71}, {'connected_gene': 'NME1-NME2', 'score': 0.44}, {'connected_gene': 'SPAG9', 'score': 0.34}]
chr17 GH17I051138 51138962 51140833 0.77 [{'connected_gene': 'NME1', 'score': 23.49}, {'connected_gene': 'UTP18', 'score': 4.76}, {'connected_gene': 'NME1-NME2', 'score': 0.39}, {'connected_gene': 'SPAG9', 'score': 0.37}]
chr17 GH17I051146 51146260 51146429 0.79 [{'connected_gene': 'UTP18', 'score': 5.77}, {'connected_gene': 'NME1', 'score': 0.44}, {'connected_gene': 'NME1-NME2', 'score': 0.44}, {'connected_gene': 'SPAG9', 'score': 0.31}]
chr17 GH17I051147 51147001 51147229 0.77 [{'connected_gene': 'UTP18', 'score': 5.41}, {'connected_gene': 'NME1', 'score': 0.44}, {'connected_gene': 'NME1-NME2', 'score': 0.44}, {'connected_gene': 'SPAG9', 'score': 0.31}]
chr17 GH17I051088 51088601 51089400 0.56 [{'connected_gene': 'NME2', 'score': 16.69}, {'connected_gene': 'SPAG9', 'score': 11.61}, {'connected_gene': 'NME1', 'score': 11.54}, {'connected_gene': 'NME1-NME2', 'score': 11.54}, {'connected_gene': 'ENSG00000249870', 'score': 5.64}, {'connected_gene': 'ENSG00000251665', 'score': 5.53}]
chr17 GH17I050945 50945869 50952636 1.72 [{'connected_gene': 'NME2', 'score': 21.46}, {'connected_gene': 'NME1', 'score': 17.31}, {'connected_gene': 'MBTD1', 'score': 11.76}, {'connected_gene': 'WFIKKN2', 'score': 11.54}, {'connected_gene': 'NME1-NME2', 'score': 10.73}, {'connected_gene': 'COL1A1', 'score': 10.11}, {'connected_gene': 'ENSG00000251665', 'score': 10.05}, {'connected_gene': 'ENSG00000247011', 'score': 9.68}, {'connected_gene': 'ENSG00000249870', 'score': 8.96}]
chr17 GH17I051164 51164931 51168432 2.09 [{'connected_gene': 'NME2', 'score': 585.75}, {'connected_gene': 'UTP18', 'score': 44.08}, {'connected_gene': 'MBTD1', 'score': 20.59}, {'connected_gene': 'LUC7L3', 'score': 16.97}, {'connected_gene': 'EME1', 'score': 12.07}, {'connected_gene': 'COL1A1', 'score': 10.11}, {'connected_gene': 'NME1-NME2', 'score': 0.39}, {'connected_gene': 'ENSG00000279089', 'score': 0.37}]
chr17 GH17I050953 50953489 50956529 1.56 [{'connected_gene': 'NME2', 'score': 18.69}, {'connected_gene': 'WFIKKN2', 'score': 11.31}, {'connected_gene': 'NME1', 'score': 10.73}, {'connected_gene': 'NME1-NME2', 'score': 10.73}, {'connected_gene': 'ENSG00000251665', 'score': 10.18}, {'connected_gene': 'ENSG00000247011', 'score': 0.39}, {'connected_gene': 'ENSG00000249870', 'score': 0.17}]
chr17 GH17I050785 50785587 50787594 0.6 [{'connected_gene': 'WFIKKN2', 'score': 12.35}, {'connected_gene': 'NME1', 'score': 10.18}, {'connected_gene': 'NME1-NME2', 'score': 10.18}, {'connected_gene': 'NME2', 'score': 10.18}, {'connected_gene': 'SPATA20', 'score': 10.17}, {'connected_gene': 'EPN3', 'score': 10.16}, {'connected_gene': 'LOC105371824', 'score': 10.16}, {'connected_gene': 'ANKRD40', 'score': 4.43}, {'connected_gene': 'ENSG00000248702', 'score': 0.39}, {'connected_gene': 'MIR8059', 'score': 0.37}]
chr17 GH17I050952 50952751 50953468 0.31 [{'connected_gene': 'WFIKKN2', 'score': 11.31}, {'connected_gene': 'NME1', 'score': 10.73}, {'connected_gene': 'NME1-NME2', 'score': 10.73}, {'connected_gene': 'NME2', 'score': 10.72}, {'connected_gene': 'UTP18', 'score': 6.87}, {'connected_gene': 'ENSG00000247011', 'score': 0.44}, {'connected_gene': 'ENSG00000249870', 'score': 0.17}]
chr17 GH17I050793 50793601 50793800 0.31 [{'connected_gene': 'WFIKKN2', 'score': 12.43}, {'connected_gene': 'NME1', 'score': 11.18}, {'connected_gene': 'NME1-NME2', 'score': 11.18}, {'connected_gene': 'NME2', 'score': 11.18}, {'connected_gene': 'ENSG00000248702', 'score': 0.77}, {'connected_gene': 'MIR8059', 'score': 0.31}]
chr17 GH17I050956 50956547 50957400 1.22 [{'connected_gene': 'WFIKKN2', 'score': 11.31}, {'connected_gene': 'NME1', 'score': 10.73}, {'connected_gene': 'NME1-NME2', 'score': 10.73}, {'connected_gene': 'NME2', 'score': 10.72}, {'connected_gene': 'ENSG00000247011', 'score': 0.39}, {'connected_gene': 'ENSG00000249870', 'score': 0.17}]
chr17 GH17I050958 50958420 50958511 0.51 [{'connected_gene': 'WFIKKN2', 'score': 11.31}, {'connected_gene': 'NME1', 'score': 10.73}, {'connected_gene': 'NME1-NME2', 'score': 10.73}, {'connected_gene': 'NME2', 'score': 10.72}, {'connected_gene': 'ENSG00000247011', 'score': 0.39}, {'connected_gene': 'ENSG00000249870', 'score': 0.18}]
chr17 GH17I051084 51084898 51086863 0.86 [{'connected_gene': 'ENSG00000249870', 'score': 11.91}, {'connected_gene': 'SPAG9', 'score': 11.78}, {'connected_gene': 'NME1', 'score': 11.53}, {'connected_gene': 'NME1-NME2', 'score': 11.53}, {'connected_gene': 'NME2', 'score': 11.51}]
chr17 GH17I051014 51014640 51016304 0.74 [{'connected_gene': 'ENSG00000249870', 'score': 12.04}, {'connected_gene': 'NME1', 'score': 11.45}, {'connected_gene': 'NME1-NME2', 'score': 11.45}, {'connected_gene': 'NME2', 'score': 11.45}, {'connected_gene': 'ENSG00000251665', 'score': 9.98}, {'connected_gene': 'ENSG00000247011', 'score': 0.19}, {'connected_gene': 'SPAG9', 'score': 0.14}]
chr17 GH17I051123 51123932 51127732 0.99 [{'connected_gene': 'ENSG00000249870', 'score': 11.81}, {'connected_gene': 'UTP18', 'score': 10.12}, {'connected_gene': 'NME1', 'score': 4.68}, {'connected_gene': 'SPAG9', 'score': 0.77}, {'connected_gene': 'NME1-NME2', 'score': 0.31}]

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