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
ENST00000405805	[[31032883, 31035670], [31036674, 31036849], [31037343, 31037489], [31037667, 31037831], [31190807, 31191734]]	[[31035493, 31035670], [31036674, 31036849], [31037343, 31037489], [31037667, 31037817]]
ENST00000339872	[[31033986, 31035670], [31036674, 31036849], [31037343, 31037489], [31037667, 31037831], [31038297, 31038447]]	[[31035493, 31035670], [31036674, 31036849], [31037343, 31037489], [31037667, 31037817]]
ENST00000341423	[[31033986, 31035670], [31036674, 31036849], [31037343, 31037489], [31037667, 31037831], [31039932, 31040102]]	[[31035493, 31035670], [31036674, 31036849], [31037343, 31037489], [31037667, 31037817]]
ENST00000399489	[[31035031, 31035670], [31035775, 31035825], [31036674, 31036849], [31037343, 31037489], [31037667, 31038384]]	[[31035819, 31035825], [31036674, 31036849], [31037343, 31037489], [31037667, 31037817]]
ENST00000399494	[[31035043, 31035670], [31036674, 31036849], [31037343, 31037489], [31037667, 31037831], [31039209, 31039379]]	[[31035493, 31035670], [31036674, 31036849], [31037343, 31037489], [31037667, 31037817]]
ENST00000326004	[[31035632, 31035825], [31036674, 31036849], [31037343, 31037489], [31037667, 31037831], [31039932, 31040075]]	[[31035819, 31035825], [31036674, 31036849], [31037343, 31037489], [31037667, 31037817]]
ENST00000490788	[[31036482, 31036849], [31037343, 31037401]]	None
ENST00000398908	[[31037347, 31037489], [31037667, 31037831], [31040503, 31040651]]	[[31037347, 31037489], [31037667, 31037817]]
ENST00000468384	[[31037447, 31037831], [31039932, 31040051]]	None
NM_001313893	[[31032052, 31035670], [31036674, 31036849], [31037343, 31037489], [31037667, 31037831], [31190807, 31191734]]	[[31035493, 31035670], [31036674, 31036849], [31037343, 31037489], [31037667, 31037817]]
NM_001313892	[[31032052, 31035670], [31036674, 31036849], [31037343, 31037489], [31037667, 31037831], [31038297, 31038464]]	[[31035493, 31035670], [31036674, 31036849], [31037343, 31037489], [31037667, 31037817]]
NM_002128	[[31032052, 31035670], [31036674, 31036849], [31037343, 31037489], [31037667, 31037831], [31039932, 31040102]]	[[31035493, 31035670], [31036674, 31036849], [31037343, 31037489], [31037667, 31037817]]

Promoter

Chrom	Start	End	Description
chr13	31038109	31038145	CAGE_peak_18_at_HMGB1_5end
chr13	31038224	31038249	CAGE_peak_16_at_HMGB1_5end
chr13	31038370	31038509	CAGE_peak_3_at_HMGB1_5end
chr13	31038652	31038662	CAGE_peak_29_at_HMGB1_5end
chr13	31038736	31038782	CAGE_peak_6_at_HMGB1_5end
chr13	31038815	31038827	CAGE_peak_13_at_HMGB1_5end
chr13	31038831	31038846	CAGE_peak_9_at_HMGB1_5end
chr13	31038850	31038892	CAGE_peak_8_at_HMGB1_5end
chr13	31038896	31038928	CAGE_peak_7_at_HMGB1_5end
chr13	31039375	31039378	CAGE_peak_12_at_HMGB1_5end
chr13	31040045	31040056	CAGE_peak_4_at_HMGB1_5end
chr13	31040060	31040085	CAGE_peak_1_at_HMGB1_5end
chr13	31191459	31191502	CAGE_peak_5_at_HMGB1_5end
chr13	31191506	31191517	CAGE_peak_19_at_HMGB1_5end
chr13	31191527	31191540	CAGE_peak_20_at_HMGB1_5end
chr13	31191642	31191749	CAGE_peak_2_at_HMGB1_5end
chr13	31191896	31191919	CAGE_peak_15_at_HMGB1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I030609	30609722	30614214	0.46	[{'connected_gene': 'KATNAL1', 'score': 9.69}, {'connected_gene': 'HMGB1', 'score': 0.44}, {'connected_gene': 'PTPN2P2', 'score': 0.22}]
chr13	GH13I030607	30607400	30608900	1.11	[{'connected_gene': 'KATNAL1', 'score': 9.54}, {'connected_gene': 'HMGB1', 'score': 0.44}, {'connected_gene': 'PTPN2P2', 'score': 0.23}]
chr13	GH13I030299	30299720	30304400	0.86	[{'connected_gene': 'KATNAL1', 'score': 9.05}, {'connected_gene': 'HMGB1', 'score': 4.9}, {'connected_gene': 'PRDX2P1', 'score': 0.44}]
chr13	GH13I030442	30442339	30444848	0.6	[{'connected_gene': 'KATNAL1', 'score': 11.09}, {'connected_gene': 'HMGB1', 'score': 8.76}, {'connected_gene': 'GC13M030443', 'score': 0.77}, {'connected_gene': 'GC13P030460', 'score': 0.37}]
chr13	GH13I030585	30585284	30586470	0.76	[{'connected_gene': 'PTPN2P2', 'score': 0.29}, {'connected_gene': 'HMGB1', 'score': 0.29}]
chr13	GH13I030581	30581664	30581813	0.46	[{'connected_gene': 'PTPN2P2', 'score': 0.31}, {'connected_gene': 'HMGB1', 'score': 0.28}]
chr13	GH13I030551	30551324	30551473	0.52	[{'connected_gene': 'PTPN2P2', 'score': 0.77}, {'connected_gene': 'RBM22P2', 'score': 0.44}, {'connected_gene': 'HMGB1', 'score': 0.2}]
chr13	GH13I030504	30504013	30504833	0.72	[{'connected_gene': 'MFAP1P1', 'score': 0.28}, {'connected_gene': 'GC13M030460', 'score': 0.26}, {'connected_gene': 'HMGB1', 'score': 0.14}]
chr13	GH13I030526	30526800	30527442	0.2	[{'connected_gene': 'MFAP1P1', 'score': 0.37}, {'connected_gene': 'GC13M030460', 'score': 0.2}, {'connected_gene': 'HMGB1', 'score': 0.16}]
chr13	GH13I030112	30112601	30115753	1.34	[{'connected_gene': 'UBL3', 'score': 11.13}, {'connected_gene': 'HMGB1', 'score': 7.29}, {'connected_gene': 'LINC00365', 'score': 0.44}, {'connected_gene': 'GC13M030142', 'score': 0.31}, {'connected_gene': 'PIR52167', 'score': 0.31}]
chr13	GH13I030478	30478950	30480909	0.6	[{'connected_gene': 'HMGB1', 'score': 5.64}, {'connected_gene': 'GC13M030460', 'score': 0.37}, {'connected_gene': 'MFAP1P1', 'score': 0.21}]
chr13	GH13I031604	31604934	31605966	0.57	[{'connected_gene': 'HMGB1', 'score': 5.05}, {'connected_gene': 'RXFP2', 'score': 5.0}, {'connected_gene': 'GC13P031608', 'score': 0.77}, {'connected_gene': 'ENSG00000277319', 'score': 0.13}]
chr13	GH13I030790	30790781	30793754	1.56	[{'connected_gene': 'HMGB1', 'score': 16.52}, {'connected_gene': 'USPL1', 'score': 10.28}, {'connected_gene': 'MEDAG', 'score': 9.75}, {'connected_gene': 'LINC00398', 'score': 0.39}, {'connected_gene': 'ALOX5AP', 'score': 0.18}]
chr13	GH13I030462	30462152	30467492	2.23	[{'connected_gene': 'HMGB1', 'score': 580.26}, {'connected_gene': 'USPL1', 'score': 22.72}, {'connected_gene': 'LINC01058', 'score': 11.4}, {'connected_gene': 'KATNAL1', 'score': 10.23}, {'connected_gene': 'UBL3', 'score': 9.46}, {'connected_gene': 'GC13M030460', 'score': 0.77}, {'connected_gene': 'MFAP1P1', 'score': 0.18}]
chr13	GH13I030665	30665284	30666626	0.54	[{'connected_gene': 'HMGB1', 'score': 17.3}, {'connected_gene': 'USPL1', 'score': 11.45}, {'connected_gene': 'PIR59750', 'score': 0.44}]
chr13	GH13I030445	30445027	30446769	1.05	[{'connected_gene': 'HMGB1', 'score': 14.23}, {'connected_gene': 'GC13M030443', 'score': 0.44}, {'connected_gene': 'GC13P030460', 'score': 0.39}]
chr13	GH13I030742	30742300	30748341	1.6	[{'connected_gene': 'ALOX5AP', 'score': 38.86}, {'connected_gene': 'HMGB1', 'score': 6.11}, {'connected_gene': 'USPL1', 'score': 4.61}, {'connected_gene': 'LINC00398', 'score': 0.22}]
chr13	GH13I030681	30681163	30682713	0.76	[{'connected_gene': 'ALOX5AP', 'score': 23.03}, {'connected_gene': 'USPL1', 'score': 12.25}, {'connected_gene': 'HMGB1', 'score': 10.79}, {'connected_gene': 'MEDAG', 'score': 10.29}, {'connected_gene': 'ENSG00000275788', 'score': 0.77}, {'connected_gene': 'TRN-GTT2-4', 'score': 0.44}]
chr13	GH13I030679	30679384	30680112	0.52	[{'connected_gene': 'ALOX5AP', 'score': 12.44}, {'connected_gene': 'USPL1', 'score': 10.79}, {'connected_gene': 'HMGB1', 'score': 10.79}, {'connected_gene': 'MEDAG', 'score': 10.29}, {'connected_gene': 'ENSG00000275788', 'score': 0.77}, {'connected_gene': 'TRN-GTT2-4', 'score': 0.44}]
chr13	GH13I030714	30714592	30715400	0.54	[{'connected_gene': 'ALOX5AP', 'score': 599.23}, {'connected_gene': 'USPL1', 'score': 15.55}, {'connected_gene': 'HMGB1', 'score': 10.59}, {'connected_gene': 'LINC00398', 'score': 0.17}]
chr13	GH13I030577	30577339	30577613	1	[{'connected_gene': 'TEX26', 'score': 1.43}, {'connected_gene': 'USPL1', 'score': 1.39}, {'connected_gene': 'PTPN2P2', 'score': 0.34}, {'connected_gene': 'HMGB1', 'score': 0.26}]
chr13	GH13I030569	30569406	30570886	0.77	[{'connected_gene': 'USPL1', 'score': 11.51}, {'connected_gene': 'HMGB1', 'score': 11.51}, {'connected_gene': 'KATNAL1', 'score': 9.85}, {'connected_gene': 'PTPN2P2', 'score': 0.37}]
chr13	GH13I030576	30576664	30576813	0.49	[{'connected_gene': 'USPL1', 'score': 11.33}, {'connected_gene': 'HMGB1', 'score': 11.33}, {'connected_gene': 'KATNAL1', 'score': 9.75}, {'connected_gene': 'PTPN2P2', 'score': 0.34}]
chr13	GH13I030572	30572028	30573487	0.76	[{'connected_gene': 'USPL1', 'score': 11.52}, {'connected_gene': 'HMGB1', 'score': 11.52}, {'connected_gene': 'KATNAL1', 'score': 9.85}, {'connected_gene': 'PTPN2P2', 'score': 0.37}]
chr13	GH13I030485	30485871	30487423	0.62	[{'connected_gene': 'USPL1', 'score': 10.41}, {'connected_gene': 'HMGB1', 'score': 10.41}, {'connected_gene': 'GC13M030460', 'score': 0.31}, {'connected_gene': 'MFAP1P1', 'score': 0.22}]
chr13	GH13I030795	30795690	30797935	1.43	[{'connected_gene': 'USPL1', 'score': 10.3}, {'connected_gene': 'HMGB1', 'score': 10.3}, {'connected_gene': 'ALOX5AP', 'score': 3.67}, {'connected_gene': 'LINC00398', 'score': 0.44}]
chr13	GH13I030615	30615118	30620038	2.34	[{'connected_gene': 'USPL1', 'score': 593.59}, {'connected_gene': 'HMGB1', 'score': 550.77}, {'connected_gene': 'LINC01058', 'score': 19.14}, {'connected_gene': 'RBM22P2', 'score': 11.6}, {'connected_gene': 'UBE2L5', 'score': 10.66}, {'connected_gene': 'MFAP1P1', 'score': 10.2}, {'connected_gene': 'PTPN2P2', 'score': 0.21}]
chr13	GH13I030134	30134764	30134913	0.31	[{'connected_gene': 'USPL1', 'score': 10.01}, {'connected_gene': 'HMGB1', 'score': 10.01}, {'connected_gene': 'GC13M030142', 'score': 0.44}, {'connected_gene': 'PIR52167', 'score': 0.44}, {'connected_gene': 'LINC00365', 'score': 0.31}]
chr13	GH13I030132	30132184	30134745	1.14	[{'connected_gene': 'USPL1', 'score': 10.01}, {'connected_gene': 'HMGB1', 'score': 10.01}, {'connected_gene': 'GC13M030142', 'score': 0.44}, {'connected_gene': 'PIR52167', 'score': 0.44}, {'connected_gene': 'LINC00365', 'score': 0.34}]
chr13	GH13I030659	30659401	30660000	0.46	[{'connected_gene': 'USPL1', 'score': 11.21}, {'connected_gene': 'HMGB1', 'score': 11.21}, {'connected_gene': 'PIR59750', 'score': 0.39}]
chr13	GH13I030660	30660084	30660233	0.52	[{'connected_gene': 'USPL1', 'score': 11.21}, {'connected_gene': 'HMGB1', 'score': 11.21}, {'connected_gene': 'PIR59750', 'score': 0.39}]
chr13	GH13I030662	30662164	30663412	1	[{'connected_gene': 'USPL1', 'score': 11.45}, {'connected_gene': 'HMGB1', 'score': 11.45}, {'connected_gene': 'PIR59750', 'score': 0.39}]
chr13	GH13I030844	30844380	30849135	1.63	[{'connected_gene': 'USPL1', 'score': 46.63}, {'connected_gene': 'LINC01058', 'score': 23.74}, {'connected_gene': 'HMGB1', 'score': 13.26}, {'connected_gene': 'MEDAG', 'score': 13.16}, {'connected_gene': 'LOC105370145', 'score': 9.94}, {'connected_gene': 'PIR60604', 'score': 0.39}, {'connected_gene': 'LINC00545', 'score': 0.28}]
chr13	GH13I030393	30393792	30396799	1.68	[{'connected_gene': 'USPL1', 'score': 26.56}, {'connected_gene': 'LINC01058', 'score': 11.17}, {'connected_gene': 'HMGB1', 'score': 10.78}, {'connected_gene': 'KATNAL1', 'score': 10.48}, {'connected_gene': 'LINC00426', 'score': 0.37}]
chr13	GH13I030672	30672931	30674877	1.22	[{'connected_gene': 'TRN-GTT2-4', 'score': 550.77}, {'connected_gene': 'PIR59750', 'score': 550.77}, {'connected_gene': 'HMGB1', 'score': 21.76}, {'connected_gene': 'USPL1', 'score': 21.32}]
chr13	GH13I030675	30675364	30675513	0.38	[{'connected_gene': 'TRN-GTT2-4', 'score': 550.77}, {'connected_gene': 'PIR59750', 'score': 550.77}, {'connected_gene': 'USPL1', 'score': 11.51}, {'connected_gene': 'HMGB1', 'score': 11.51}, {'connected_gene': 'ENSG00000275788', 'score': 0.44}]
chr13	GH13I030463	30461047	30461336	0.4	[{'connected_gene': 'GC13P030460', 'score': 550.77}, {'connected_gene': 'GC13M030460', 'score': 550.77}, {'connected_gene': 'KATNAL1', 'score': 10.04}, {'connected_gene': 'MFAP1P1', 'score': 0.18}, {'connected_gene': 'HMGB1', 'score': 0.1}]
chr13	GH13I030461	30461724	30461933	0.54	[{'connected_gene': 'GC13P030460', 'score': 550.77}, {'connected_gene': 'GC13M030460', 'score': 550.77}, {'connected_gene': 'KATNAL1', 'score': 10.04}, {'connected_gene': 'MFAP1P1', 'score': 0.18}, {'connected_gene': 'HMGB1', 'score': 0.1}]
chr13	GH13I030476	30476926	30478237	0.65	[{'connected_gene': 'GC13M030460', 'score': 0.37}, {'connected_gene': 'MFAP1P1', 'score': 0.2}, {'connected_gene': 'HMGB1', 'score': 0.11}]