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
ENST00000580825	[[37782992, 37783193], [37783558, 37783726], [37785422, 37785483], [37785792, 37785815], [37786224, 37786300], [37790135, 37790339], [37791859, 37791979], [37792068, 37792253]]	[[37783645, 37783726], [37785422, 37785483], [37785792, 37785815], [37786224, 37786300], [37790135, 37790339], [37791859, 37791979], [37792068, 37792118]]
ENST00000254079	[[37783176, 37783726], [37785422, 37785483], [37785792, 37785815], [37786224, 37786300], [37790135, 37790339], [37791859, 37791979], [37792068, 37792879]]	[[37783645, 37783726], [37785422, 37785483], [37785792, 37785815], [37786224, 37786300], [37790135, 37790339], [37791859, 37791979], [37792068, 37792118]]
ENST00000582680	[[37783204, 37783717], [37785422, 37785483], [37785792, 37785815], [37786224, 37786300], [37790135, 37790337]]	[[37783645, 37783717], [37785422, 37785483], [37785792, 37785815], [37786224, 37786300], [37790135, 37790337]]
ENST00000579000	[[37783452, 37783726], [37785422, 37785483], [37790135, 37790339], [37791859, 37791979], [37792068, 37792875]]	[[37783645, 37783726], [37785422, 37785483], [37790135, 37790339], [37791859, 37791979], [37792068, 37792118]]
ENST00000394265	[[37784750, 37784875], [37785422, 37785483], [37785792, 37785815], [37786224, 37786300], [37790135, 37790339], [37791859, 37791979], [37792068, 37792878]]	[[37785449, 37785483], [37785792, 37785815], [37786224, 37786300], [37790135, 37790339], [37791859, 37791979], [37792068, 37792118]]
ENST00000394267	[[37784750, 37784959], [37785422, 37785483], [37785792, 37785815], [37786224, 37786300], [37790135, 37790339], [37791859, 37791979], [37792068, 37792879]]	[[37785449, 37785483], [37785792, 37785815], [37786224, 37786300], [37790135, 37790339], [37791859, 37791979], [37792068, 37792118]]
ENST00000580772	[[37784778, 37784959], [37785422, 37785483], [37785792, 37785815], [37786224, 37786705]]	None
ENST00000583446	[[37785626, 37785815], [37786224, 37786300], [37790135, 37790339], [37791859, 37791974]]	None
ENST00000492037	[[37785657, 37785815], [37790135, 37790339], [37791859, 37791979], [37792068, 37792877]]	None
ENST00000580029	[[37788390, 37790339], [37791859, 37791979], [37792068, 37792878]]	None
NM_032192	[[37783176, 37783726], [37785422, 37785483], [37785792, 37785815], [37786224, 37786300], [37790135, 37790339], [37791859, 37791979], [37792068, 37792878]]	[[37783645, 37783726], [37785422, 37785483], [37785792, 37785815], [37786224, 37786300], [37790135, 37790339], [37791859, 37791979], [37792068, 37792118]]
NM_001242464	[[37784750, 37784875], [37785422, 37785483], [37785792, 37785815], [37786224, 37786300], [37790135, 37790339], [37791859, 37791979], [37792068, 37792878]]	[[37785449, 37785483], [37785792, 37785815], [37786224, 37786300], [37790135, 37790339], [37791859, 37791979], [37792068, 37792118]]
NM_181505	[[37784750, 37784959], [37785422, 37785483], [37785792, 37785815], [37786224, 37786300], [37790135, 37790339], [37791859, 37791979], [37792068, 37792878]]	[[37785449, 37785483], [37785792, 37785815], [37786224, 37786300], [37790135, 37790339], [37791859, 37791979], [37792068, 37792118]]

Promoter

Chrom	Start	End	Description
chr17	37782955	37782964	CAGE_peak_7_at_PPP1R1B_5end
chr17	37783139	37783148	CAGE_peak_6_at_PPP1R1B_5end
chr17	37783170	37783182	CAGE_peak_2_at_PPP1R1B_5end
chr17	37783186	37783195	CAGE_peak_5_at_PPP1R1B_5end
chr17	37783197	37783216	CAGE_peak_1_at_PPP1R1B_5end
chr17	37783533	37783552	CAGE_peak_3_at_PPP1R1B_5end
chr17	37784711	37784721	CAGE_peak_9_at_PPP1R1B_5end
chr17	37784749	37784768	CAGE_peak_4_at_PPP1R1B_5end
chr17	37784776	37784783	CAGE_peak_10_at_PPP1R1B_5end
chr17	37785414	37785430	CAGE_peak_8_at_PPP1R1B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I039631	39630988	39635001	1.17	[{'connected_gene': 'PGAP3', 'score': 21.86}, {'connected_gene': 'STARD3', 'score': 13.75}, {'connected_gene': 'TCAP', 'score': 12.62}, {'connected_gene': 'PNMT', 'score': 12.62}, {'connected_gene': 'NEUROD2', 'score': 12.16}, {'connected_gene': 'RNU6-233P', 'score': 11.7}, {'connected_gene': 'ERBB2', 'score': 11.09}, {'connected_gene': 'PPP1R1B', 'score': 0.44}]
chr17	GH17I039626	39626263	39629953	1.66	[{'connected_gene': 'PPP1R1B', 'score': 561.91}, {'connected_gene': 'STARD3', 'score': 16.29}, {'connected_gene': 'PGAP3', 'score': 11.72}, {'connected_gene': 'RAPGEFL1', 'score': 5.18}, {'connected_gene': 'PNMT', 'score': 5.08}]
chr17	GH17I039630	39630088	39630237	0.84	[{'connected_gene': 'PPP1R1B', 'score': 0.77}, {'connected_gene': 'STARD3', 'score': 0.44}]
chr17	GH17I040061	40061890	40076700	2.95	[{'connected_gene': 'THRA', 'score': 554.9}, {'connected_gene': 'GC17P040067', 'score': 550.77}, {'connected_gene': 'MED1', 'score': 33.4}, {'connected_gene': 'MED24', 'score': 31.76}, {'connected_gene': 'SMARCE1', 'score': 31.34}, {'connected_gene': 'MSL1', 'score': 28.13}, {'connected_gene': 'GSDMA', 'score': 20.29}, {'connected_gene': 'CDK12', 'score': 16.77}, {'connected_gene': 'RAPGEFL1', 'score': 10.71}, {'connected_gene': 'PSMD3', 'score': 10.61}, {'connected_gene': 'RPL19', 'score': 10.48}, {'connected_gene': 'TCAP', 'score': 8.67}, {'connected_gene': 'ORMDL3', 'score': 5.17}, {'connected_gene': 'GSDMB', 'score': 3.76}, {'connected_gene': 'NR1D1', 'score': 3.17}, {'connected_gene': 'PPP1R1B', 'score': 1.54}, {'connected_gene': 'NEUROD2', 'score': 1.27}, {'connected_gene': 'GC17P040059', 'score': 0.39}, {'connected_gene': 'GC17P040082', 'score': 0.39}]
chr17	GH17I038876	38876583	38887714	1.38	[{'connected_gene': 'SNORA21', 'score': 22.77}, {'connected_gene': 'MED1', 'score': 20.39}, {'connected_gene': 'RPS20P35', 'score': 13.04}, {'connected_gene': 'RPL23', 'score': 13.04}, {'connected_gene': 'SNORA21B', 'score': 13.03}, {'connected_gene': 'C17orf98', 'score': 11.85}, {'connected_gene': 'CWC25', 'score': 11.29}, {'connected_gene': 'PSMB3', 'score': 10.93}, {'connected_gene': 'LASP1', 'score': 9.99}, {'connected_gene': 'PCGF2', 'score': 7.25}, {'connected_gene': 'PPP1R1B', 'score': 5.75}, {'connected_gene': 'PIP4K2B', 'score': 5.44}, {'connected_gene': 'TBC1D3', 'score': 4.78}, {'connected_gene': 'TCAP', 'score': 4.11}, {'connected_gene': 'GC17M038893', 'score': 0.39}]
chr17	GH17I039623	39623393	39623991	1	[{'connected_gene': 'CDK12', 'score': 14.73}, {'connected_gene': 'SNORA21', 'score': 13.18}, {'connected_gene': 'STARD3', 'score': 12.94}, {'connected_gene': 'MSL1', 'score': 11.13}, {'connected_gene': 'RPL19', 'score': 9.87}, {'connected_gene': 'PPP1R1B', 'score': 0.77}, {'connected_gene': 'ENSG00000214546', 'score': 0.77}]
chr17	GH17I039621	39621548	39622617	1.38	[{'connected_gene': 'CDK12', 'score': 16.83}, {'connected_gene': 'STARD3', 'score': 15.54}, {'connected_gene': 'LOC105371762', 'score': 14.47}, {'connected_gene': 'SNORA21', 'score': 14.15}, {'connected_gene': 'MED1', 'score': 13.2}, {'connected_gene': 'MSL1', 'score': 11.88}, {'connected_gene': 'RPL23', 'score': 10.95}, {'connected_gene': 'RPL19', 'score': 10.5}, {'connected_gene': 'PPP1R1B', 'score': 0.77}, {'connected_gene': 'ENSG00000214546', 'score': 0.77}]
chr17	GH17I039635	39635637	39638803	2.26	[{'connected_gene': 'STARD3', 'score': 568.75}, {'connected_gene': 'MED24', 'score': 20.5}, {'connected_gene': 'CDK12', 'score': 16.78}, {'connected_gene': 'SNORA21', 'score': 16.27}, {'connected_gene': 'MED1', 'score': 14.93}, {'connected_gene': 'LOC105371762', 'score': 11.77}, {'connected_gene': 'PPP1R1B', 'score': 11.42}, {'connected_gene': 'PGAP3', 'score': 11.02}, {'connected_gene': 'MSL1', 'score': 10.32}, {'connected_gene': 'SNORD124', 'score': 10.05}, {'connected_gene': 'ORMDL3', 'score': 5.36}, {'connected_gene': 'TCAP', 'score': 0.31}]
chr17	GH17I039624	39623198	39623351	0.85	[{'connected_gene': 'STARD3', 'score': 6.5}, {'connected_gene': 'PPP1R1B', 'score': 0.77}, {'connected_gene': 'ENSG00000214546', 'score': 0.77}]