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
ENST00000474914	[[30899129, 30899351], [30899483, 30899886]]	None
ENST00000359086	[[30899129, 30899351], [30899483, 30899572], [30899812, 30899952]]	[[30899264, 30899351], [30899483, 30899572], [30899812, 30899873]]
NM_205854	[[30899126, 30899351], [30899483, 30899572], [30899812, 30899952]]	[[30899264, 30899351], [30899483, 30899572], [30899812, 30899873]]
NM_205854	[[2411049, 2411274], [2411406, 2411495], [2411735, 2411875]]	[[2411187, 2411274], [2411406, 2411495], [2411735, 2411796]]
NM_205854	[[2193236, 2193461], [2193593, 2193682], [2193922, 2194062]]	[[2193374, 2193461], [2193593, 2193682], [2193922, 2193983]]
NM_205854	[[2281065, 2281290], [2281422, 2281511], [2281751, 2281891]]	[[2281203, 2281290], [2281422, 2281511], [2281751, 2281812]]
NM_205854	[[2192097, 2192322], [2192454, 2192543], [2192783, 2192923]]	[[2192235, 2192322], [2192454, 2192543], [2192783, 2192844]]
NM_205854	[[2247207, 2247432], [2247564, 2247653], [2247893, 2248033]]	[[2247345, 2247432], [2247564, 2247653], [2247893, 2247954]]

Promoter

Chrom	Start	End	Description
chr6	30899898	30899920	CAGE_peak_2_at_SFTA2_5end
chr6	30899924	30899954	CAGE_peak_1_at_SFTA2_5end
chr6	30899962	30899981	CAGE_peak_3_at_SFTA2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I030879	30879777	30888989	2.26	[{'connected_gene': 'DDR1', 'score': 559.63}, {'connected_gene': 'VARS2', 'score': 41.56}, {'connected_gene': 'HLA-C', 'score': 13.09}, {'connected_gene': 'PSORS1C1', 'score': 13.09}, {'connected_gene': 'GNL1', 'score': 12.35}, {'connected_gene': 'PSORS1C3', 'score': 11.61}, {'connected_gene': 'SFTA2', 'score': 11.55}, {'connected_gene': 'HCG18', 'score': 11.25}, {'connected_gene': 'IER3', 'score': 11.16}, {'connected_gene': 'FLOT1', 'score': 11.15}, {'connected_gene': 'BAG6', 'score': 11.14}, {'connected_gene': 'DPCR1', 'score': 11.06}, {'connected_gene': 'CCHCR1', 'score': 10.86}, {'connected_gene': 'CSNK2B', 'score': 10.54}, {'connected_gene': 'PRR3', 'score': 10.4}, {'connected_gene': 'DHX16', 'score': 10.01}, {'connected_gene': 'LSM2', 'score': 9.81}, {'connected_gene': 'MICD', 'score': 5.3}, {'connected_gene': 'ENSG00000272501', 'score': 5.13}, {'connected_gene': 'POU5F1', 'score': 3.95}, {'connected_gene': 'TRIM10', 'score': 3.92}, {'connected_gene': 'MIR4640', 'score': 0.44}]
chr6	GH06I030894	30894082	30897292	0.49	[{'connected_gene': 'VARS2', 'score': 48.14}, {'connected_gene': 'SFTA2', 'score': 22.48}, {'connected_gene': 'HLA-C', 'score': 13.09}, {'connected_gene': 'ENSG00000252761', 'score': 11.3}, {'connected_gene': 'FLOT1', 'score': 11.15}, {'connected_gene': 'IER3', 'score': 11.15}, {'connected_gene': 'DPCR1', 'score': 11.11}, {'connected_gene': 'PSORS1C1', 'score': 11.01}, {'connected_gene': 'C6orf15', 'score': 11.01}, {'connected_gene': 'HCG21', 'score': 10.93}, {'connected_gene': 'MICB', 'score': 6.87}, {'connected_gene': 'MIR4640', 'score': 0.77}, {'connected_gene': 'GC06P031581', 'score': 0.39}, {'connected_gene': 'DDR1', 'score': 0.37}]
chr6	GH06I030935	30935842	30937647	0.2	[{'connected_gene': 'VARS2', 'score': 35.53}, {'connected_gene': 'HCG27', 'score': 9.52}, {'connected_gene': 'MICA-AS1', 'score': 5.48}, {'connected_gene': 'MICD', 'score': 5.46}, {'connected_gene': 'DPCR1', 'score': 0.77}, {'connected_gene': 'SFTA2', 'score': 0.37}]
chr6	GH06I030955	30955386	30956303	1.74	[{'connected_gene': 'SFTA2', 'score': 550.77}, {'connected_gene': 'HCG21', 'score': 550.77}, {'connected_gene': 'VARS2', 'score': 47.29}, {'connected_gene': 'DDR1', 'score': 12.63}, {'connected_gene': 'DDR1-AS1', 'score': 11.28}, {'connected_gene': 'MICD', 'score': 5.46}, {'connected_gene': 'GNL1', 'score': 2.25}, {'connected_gene': 'CCHCR1', 'score': 1.8}, {'connected_gene': 'NAPGP2', 'score': 0.44}]
chr6	GH06I031352	31352708	31359675	2.52	[{'connected_gene': 'HLA-B', 'score': 577.01}, {'connected_gene': 'ENSG00000271581', 'score': 576.39}, {'connected_gene': 'GC06M031410', 'score': 550.77}, {'connected_gene': 'GC06M031409', 'score': 550.77}, {'connected_gene': 'PIR40863', 'score': 550.77}, {'connected_gene': 'MIR6891', 'score': 550.77}, {'connected_gene': 'HLA-C', 'score': 41.92}, {'connected_gene': 'DDX39B', 'score': 26.64}, {'connected_gene': 'MICA', 'score': 24.76}, {'connected_gene': 'LY6G5B', 'score': 24.58}, {'connected_gene': 'ATF6B', 'score': 23.69}, {'connected_gene': 'MICA-AS1', 'score': 20.25}, {'connected_gene': 'SKIV2L', 'score': 20.18}, {'connected_gene': 'DHX16', 'score': 20.04}, {'connected_gene': 'MICB', 'score': 18.21}, {'connected_gene': 'TCF19', 'score': 17.85}, {'connected_gene': 'MDC1', 'score': 14.93}, {'connected_gene': 'PPP1R10', 'score': 14.52}, {'connected_gene': 'PBX2', 'score': 14.32}, {'connected_gene': 'LSM2', 'score': 14.22}, {'connected_gene': 'PSORS1C3', 'score': 13.98}, {'connected_gene': 'PSORS1C2', 'score': 13.34}, {'connected_gene': 'HCG22', 'score': 12.96}, {'connected_gene': 'C4A', 'score': 12.7}, {'connected_gene': 'NRM', 'score': 12.52}, {'connected_gene': 'CCHCR1', 'score': 12.1}, {'connected_gene': 'MSH5', 'score': 11.61}, {'connected_gene': 'C6orf47', 'score': 11.55}, {'connected_gene': 'ABCF1', 'score': 11.23}, {'connected_gene': 'NFKBIL1', 'score': 11.05}, {'connected_gene': 'ENSG00000272540', 'score': 11.05}, {'connected_gene': 'CSNK2B', 'score': 10.91}, {'connected_gene': 'PSORS1C1', 'score': 10.86}, {'connected_gene': 'RPL3P2', 'score': 10.69}, {'connected_gene': 'POU5F1', 'score': 10.37}, {'connected_gene': 'SFTA2', 'score': 9.38}, {'connected_gene': 'HCG27', 'score': 9.21}, {'connected_gene': 'STK19B', 'score': 8.66}, {'connected_gene': 'ENSG00000272501', 'score': 7.94}, {'connected_gene': 'HCP5', 'score': 7.19}, {'connected_gene': 'NOTCH4', 'score': 6.68}, {'connected_gene': 'MUC22', 'score': 1.77}, {'connected_gene': 'PIR46739', 'score': 0.77}]
chr6	GH06I030934	30934692	30935608	0.74	[{'connected_gene': 'DPCR1', 'score': 550.77}, {'connected_gene': 'VARS2', 'score': 17.46}, {'connected_gene': 'HCG27', 'score': 8.97}, {'connected_gene': 'SFTA2', 'score': 0.34}]
chr6	GH06I030939	30939855	30941401	1.02	[{'connected_gene': 'DPCR1', 'score': 550.44}, {'connected_gene': 'VARS2', 'score': 9.94}, {'connected_gene': 'MICA-AS1', 'score': 5.48}, {'connected_gene': 'ATP6V1G2', 'score': 5.06}, {'connected_gene': 'TRIM10', 'score': 3.92}, {'connected_gene': 'SFTA2', 'score': 0.37}]
chr6	GH06I030940	30939645	30939733	0.31	[{'connected_gene': 'DPCR1', 'score': 0.44}, {'connected_gene': 'SFTA2', 'score': 0.37}]
chr6	GH06I030746	30746655	30756199	1.77	[{'connected_gene': 'RN7SL353P', 'score': 550.77}, {'connected_gene': 'MDC1', 'score': 59.36}, {'connected_gene': 'IER3', 'score': 50.81}, {'connected_gene': 'GTF2H4', 'score': 34.19}, {'connected_gene': 'PAIP1P1', 'score': 31.55}, {'connected_gene': 'LY6G5B', 'score': 30.67}, {'connected_gene': 'DHX16', 'score': 27.47}, {'connected_gene': 'DDX39B', 'score': 27.14}, {'connected_gene': 'TRIM39', 'score': 26.4}, {'connected_gene': 'PPP1R10', 'score': 25.73}, {'connected_gene': 'HLA-K', 'score': 24.34}, {'connected_gene': 'VARS2', 'score': 23.65}, {'connected_gene': 'ABCF1', 'score': 23.38}, {'connected_gene': 'NRM', 'score': 22.51}, {'connected_gene': 'ZNRD1', 'score': 22.13}, {'connected_gene': 'TCF19', 'score': 21.82}, {'connected_gene': 'HCG4B', 'score': 19.08}, {'connected_gene': 'ETF1P1', 'score': 19.07}, {'connected_gene': 'MICA', 'score': 16.59}, {'connected_gene': 'C6orf136', 'score': 16.51}, {'connected_gene': 'CCHCR1', 'score': 14.05}, {'connected_gene': 'PPP1R18', 'score': 13.44}, {'connected_gene': 'ENSG00000199332', 'score': 12.77}, {'connected_gene': 'LINC00243', 'score': 12.38}, {'connected_gene': 'MSH5', 'score': 12.21}, {'connected_gene': 'ENSG00000272236', 'score': 11.88}, {'connected_gene': 'TUBB', 'score': 11.83}, {'connected_gene': 'DDR1', 'score': 11.62}, {'connected_gene': 'DDR1-AS1', 'score': 11.62}, {'connected_gene': 'HCG18', 'score': 11.31}, {'connected_gene': 'MICA-AS1', 'score': 11.3}, {'connected_gene': 'C6orf47', 'score': 11.24}, {'connected_gene': 'ZNRD1ASP', 'score': 11.08}, {'connected_gene': 'HCG4P7', 'score': 11.06}, {'connected_gene': 'HLA-U', 'score': 10.7}, {'connected_gene': 'RPL3P2', 'score': 10.63}, {'connected_gene': 'NFKBIL1', 'score': 10.2}, {'connected_gene': 'CSNK2B', 'score': 10.02}, {'connected_gene': 'HCG21', 'score': 9.68}, {'connected_gene': 'HLA-C', 'score': 9.43}, {'connected_gene': 'DPCR1', 'score': 9.4}, {'connected_gene': 'HCG4', 'score': 8.1}, {'connected_gene': 'HCG20', 'score': 6.85}, {'connected_gene': 'HLA-A', 'score': 6.25}, {'connected_gene': 'HLA-E', 'score': 5.81}, {'connected_gene': 'HLA-J', 'score': 5.57}, {'connected_gene': 'MICB', 'score': 5.5}, {'connected_gene': 'PSORS1C2', 'score': 5.44}, {'connected_gene': 'HLA-L', 'score': 4.97}, {'connected_gene': 'HLA-G', 'score': 3.92}, {'connected_gene': 'RPP21', 'score': 2.26}, {'connected_gene': 'FLOT1', 'score': 2.23}, {'connected_gene': 'SFTA2', 'score': 2.11}, {'connected_gene': 'TRIM39-RPP21', 'score': 2.0}, {'connected_gene': 'PSORS1C1', 'score': 1.74}]
chr6	GH06I030942	30942401	30943200	1.09	[{'connected_gene': 'HCG9', 'score': 6.44}, {'connected_gene': 'DPCR1', 'score': 0.44}, {'connected_gene': 'SFTA2', 'score': 0.39}]
chr6	GH06I031010	31010426	31010485	0.5	[{'connected_gene': 'MUC22', 'score': 550.77}, {'connected_gene': 'SFTA2', 'score': 11.55}, {'connected_gene': 'ENSG00000252761', 'score': 11.5}, {'connected_gene': 'HCG21', 'score': 11.22}, {'connected_gene': 'DPCR1', 'score': 11.08}, {'connected_gene': 'GC06P031986', 'score': 0.34}]
chr6	GH06I030931	30931846	30933061	1.16	[{'connected_gene': 'ENSG00000252761', 'score': 550.77}, {'connected_gene': 'SFTA2', 'score': 550.34}, {'connected_gene': 'VARS2', 'score': 53.6}, {'connected_gene': 'CCHCR1', 'score': 11.95}]
chr6	GH06I030933	30933424	30933516	0.44	[{'connected_gene': 'ENSG00000252761', 'score': 550.77}, {'connected_gene': 'DPCR1', 'score': 550.77}, {'connected_gene': 'VARS2', 'score': 12.64}, {'connected_gene': 'DDR1', 'score': 3.32}, {'connected_gene': 'SFTA2', 'score': 0.34}]