PsyMuKB

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
ENST00000235310	[[11734536, 11734873], [11735138, 11735231], [11735714, 11735788], [11736102, 11736197], [11736904, 11737005], [11737599, 11737671], [11740409, 11740528], [11740618, 11740670], [11741095, 11741495], [11741794, 11742073], [11751469, 11751707]]	[[11734831, 11734873], [11735138, 11735231], [11735714, 11735788], [11736102, 11736197], [11736904, 11737005], [11737599, 11737671], [11740409, 11740528], [11740618, 11740658]]
ENST00000376692	[[11734537, 11734873], [11735138, 11735231], [11735714, 11735788], [11736102, 11736197], [11736904, 11737005], [11737599, 11737671], [11740409, 11740528], [11740618, 11740670], [11741095, 11741271]]	[[11734831, 11734873], [11735138, 11735231], [11735714, 11735788], [11736102, 11736197], [11736904, 11737005], [11737599, 11737671], [11740409, 11740528], [11740618, 11740658]]
ENST00000376672	[[11734581, 11734873], [11735138, 11735231], [11735714, 11735788], [11736102, 11736197], [11736865, 11737005], [11737599, 11737671], [11740409, 11740528], [11740618, 11740670], [11751469, 11751534]]	[[11734831, 11734873], [11735138, 11735231], [11735714, 11735788], [11736102, 11736197], [11736865, 11737005], [11737599, 11737671], [11740409, 11740528], [11740618, 11740658]]
ENST00000376669	[[11734734, 11734873], [11735138, 11735231], [11735714, 11735788], [11736102, 11736197], [11736865, 11737005], [11737599, 11737671], [11740409, 11740528], [11740618, 11740670], [11741095, 11741175]]	[[11734831, 11734873], [11735138, 11735231], [11735714, 11735788], [11736102, 11736197], [11736865, 11737005], [11737599, 11737671], [11740409, 11740528], [11740618, 11740658]]
ENST00000376667	[[11734804, 11734873], [11735138, 11735231], [11735714, 11735788], [11736102, 11736197], [11736904, 11737005], [11737599, 11737671], [11740409, 11740528], [11740618, 11740670], [11751469, 11751666]]	[[11734831, 11734873], [11735138, 11735231], [11735714, 11735788], [11736102, 11736197], [11736904, 11737005], [11737599, 11737671], [11740409, 11740528], [11740618, 11740658]]
ENST00000445656	[[11735712, 11735788], [11736102, 11736197], [11736904, 11737005], [11737599, 11737671], [11740409, 11740670], [11741095, 11741168]]	[[11735712, 11735788], [11736102, 11736197], [11736904, 11737005], [11737599, 11737671], [11740409, 11740658]]
ENST00000456915	[[11735713, 11735788], [11736102, 11736197], [11736904, 11737005], [11737599, 11737671], [11740409, 11740528], [11740618, 11741188]]	[[11735713, 11735788], [11736102, 11736197], [11736904, 11737005], [11737599, 11737671], [11740409, 11740528], [11740618, 11740658]]
ENST00000376664	[[11735756, 11736197], [11736904, 11737005], [11737599, 11737671], [11740409, 11740528], [11740618, 11740670], [11741095, 11741168]]	None
ENST00000376655	[[11736928, 11737671], [11740409, 11740528], [11740618, 11740670], [11751469, 11751650]]	None
NM_006341	[[11734536, 11734873], [11735138, 11735231], [11735714, 11735788], [11736102, 11736197], [11736904, 11737005], [11737599, 11737671], [11740409, 11740528], [11740618, 11740670], [11741095, 11741271]]	[[11734831, 11734873], [11735138, 11735231], [11735714, 11735788], [11736102, 11736197], [11736904, 11737005], [11737599, 11737671], [11740409, 11740528], [11740618, 11740658]]
NM_001127325	[[11734536, 11734873], [11735138, 11735231], [11735714, 11735788], [11736102, 11736197], [11736904, 11737005], [11737599, 11737671], [11740409, 11740528], [11740618, 11740670], [11751469, 11751678]]	[[11734831, 11734873], [11735138, 11735231], [11735714, 11735788], [11736102, 11736197], [11736904, 11737005], [11737599, 11737671], [11740409, 11740528], [11740618, 11740658]]

Promoter

Chrom	Start	End	Description
chr1	11740979	11741035	CAGE_peak_2_at_MAD2L2_5end
chr1	11741155	11741236	CAGE_peak_1_at_MAD2L2_5end
chr1	11741395	11741421	CAGE_peak_9_at_MAD2L2_5end
chr1	11751529	11751536	CAGE_peak_10_at_MAD2L2_5end
chr1	11751540	11751553	CAGE_peak_6_at_MAD2L2_5end
chr1	11751574	11751662	CAGE_peak_3_at_MAD2L2_5end
chr1	11751665	11751698	CAGE_peak_5_at_MAD2L2_5end
chr1	11751835	11751892	CAGE_peak_4_at_MAD2L2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I011738	11738861	11739064	0.83	[{'connected_gene': 'TNFRSF1B', 'score': 14.74}, {'connected_gene': 'MAD2L2', 'score': 12.04}, {'connected_gene': 'DRAXIN', 'score': 12.02}, {'connected_gene': 'C1orf127', 'score': 9.14}, {'connected_gene': 'MTHFR', 'score': 5.44}, {'connected_gene': 'CLCN6', 'score': 5.44}, {'connected_gene': 'FBXO6', 'score': 4.42}, {'connected_gene': 'AGTRAP', 'score': 3.18}, {'connected_gene': 'TNFRSF8', 'score': 2.54}, {'connected_gene': 'MFN2', 'score': 1.81}, {'connected_gene': 'GC01P011758', 'score': 0.37}]
chr1	GH01I011700	11700528	11702104	1.18	[{'connected_gene': 'DISP3', 'score': 16.57}, {'connected_gene': 'DRAXIN', 'score': 6.93}, {'connected_gene': 'MAD2L2', 'score': 2.69}, {'connected_gene': 'FBXO44', 'score': 1.69}, {'connected_gene': 'GC01P011722', 'score': 0.34}]
chr1	GH01I011704	11704364	11704493	0.66	[{'connected_gene': 'AGTRAP', 'score': 12.19}, {'connected_gene': 'FBXO2', 'score': 11.42}, {'connected_gene': 'FBXO44', 'score': 11.4}, {'connected_gene': 'C1orf167', 'score': 11.28}, {'connected_gene': 'LOC102724659', 'score': 11.25}, {'connected_gene': 'C1orf127', 'score': 8.59}, {'connected_gene': 'MAD2L2', 'score': 0.39}, {'connected_gene': 'GC01P011722', 'score': 0.37}, {'connected_gene': 'DRAXIN', 'score': 0.37}]
chr1	GH01I011705	11705966	11707082	0.74	[{'connected_gene': 'AGTRAP', 'score': 16.82}, {'connected_gene': 'MTOR', 'score': 11.49}, {'connected_gene': 'FBXO44', 'score': 11.4}, {'connected_gene': 'FBXO2', 'score': 11.4}, {'connected_gene': 'C1orf167', 'score': 11.28}, {'connected_gene': 'LOC102724659', 'score': 11.26}, {'connected_gene': 'ENSG00000271895', 'score': 10.21}, {'connected_gene': 'EXOSC10', 'score': 9.67}, {'connected_gene': 'C1orf127', 'score': 8.59}, {'connected_gene': 'MAD2L2', 'score': 0.39}, {'connected_gene': 'GC01P011722', 'score': 0.37}, {'connected_gene': 'DRAXIN', 'score': 0.37}]
chr1	GH01I011735	11735202	11738570	2.53	[{'connected_gene': 'AGTRAP', 'score': 570.93}, {'connected_gene': 'TARDBP', 'score': 19.36}, {'connected_gene': 'TNFRSF1B', 'score': 14.62}, {'connected_gene': 'ENSG00000226849', 'score': 12.73}, {'connected_gene': 'MAD2L2', 'score': 12.04}, {'connected_gene': 'DRAXIN', 'score': 12.02}, {'connected_gene': 'EXOSC10', 'score': 11.55}, {'connected_gene': 'C1orf127', 'score': 9.14}, {'connected_gene': 'MTHFR', 'score': 4.68}, {'connected_gene': 'CLCN6', 'score': 4.13}, {'connected_gene': 'TNFRSF8', 'score': 2.69}, {'connected_gene': 'FBXO6', 'score': 2.63}, {'connected_gene': 'MFN2', 'score': 1.62}, {'connected_gene': 'GC01P011758', 'score': 0.37}]
chr1	GH01I011711	11711164	11711313	0.64	[{'connected_gene': 'AGTRAP', 'score': 12.15}, {'connected_gene': 'GC01P011722', 'score': 0.39}, {'connected_gene': 'MAD2L2', 'score': 0.37}, {'connected_gene': 'DRAXIN', 'score': 0.34}]
chr1	GH01I011707	11707311	11707962	1.06	[{'connected_gene': 'EXOSC10', 'score': 18.13}, {'connected_gene': 'TARDBP', 'score': 15.01}, {'connected_gene': 'AGTRAP', 'score': 12.21}, {'connected_gene': 'ENSG00000226849', 'score': 11.96}, {'connected_gene': 'MTOR', 'score': 11.49}, {'connected_gene': 'FBXO44', 'score': 11.4}, {'connected_gene': 'FBXO2', 'score': 11.4}, {'connected_gene': 'C1orf167', 'score': 11.29}, {'connected_gene': 'LOC102724659', 'score': 11.26}, {'connected_gene': 'MTHFR', 'score': 11.11}, {'connected_gene': 'ENSG00000271895', 'score': 10.21}, {'connected_gene': 'C1orf127', 'score': 8.59}, {'connected_gene': 'DRAXIN', 'score': 5.08}, {'connected_gene': 'GC01P011722', 'score': 0.39}, {'connected_gene': 'MAD2L2', 'score': 0.37}]
chr1	GH01I011332	11332790	11333114	0.23	[{'connected_gene': 'MTOR', 'score': 10.16}, {'connected_gene': 'MTOR-AS1', 'score': 10.05}, {'connected_gene': 'DISP3', 'score': 2.71}, {'connected_gene': 'DRAXIN', 'score': 1.45}, {'connected_gene': 'MAD2L2', 'score': 1.19}, {'connected_gene': 'LOC105376737', 'score': 0.39}, {'connected_gene': 'LOC105376739', 'score': 0.31}]
chr1	GH01I011689	11689322	11694020	2.09	[{'connected_gene': 'MAD2L2', 'score': 557.78}, {'connected_gene': 'DRAXIN', 'score': 550.44}, {'connected_gene': 'FBXO2', 'score': 5.73}, {'connected_gene': 'MTHFR', 'score': 3.1}, {'connected_gene': 'CLCN6', 'score': 2.96}, {'connected_gene': 'TNFRSF1B', 'score': 2.67}]
chr1	GH01I011718	11718540	11720533	1.33	[{'connected_gene': 'MAD2L2', 'score': 12.66}, {'connected_gene': 'DRAXIN', 'score': 12.64}, {'connected_gene': 'GC01P011722', 'score': 0.77}]
chr1	GH01I011680	11680200	11683663	2.22	[{'connected_gene': 'MAD2L2', 'score': 564.27}, {'connected_gene': 'FBXO6', 'score': 8.39}, {'connected_gene': 'DRAXIN', 'score': 0.77}, {'connected_gene': 'PIR43631', 'score': 0.44}]
chr1	GH01I011670	11670222	11672622	1.01	[{'connected_gene': 'MAD2L2', 'score': 12.51}, {'connected_gene': 'FBXO6', 'score': 8.85}, {'connected_gene': 'PIR43631', 'score': 0.77}]
chr1	GH01I011676	11676255	11677875	0.65	[{'connected_gene': 'PIR43631', 'score': 550.77}, {'connected_gene': 'FBXO6', 'score': 13.59}, {'connected_gene': 'DRAXIN', 'score': 0.44}, {'connected_gene': 'MAD2L2', 'score': 0.39}]