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
ENST00000274458	[[115420687, 115420790], [115423193, 115423284], [115426775, 115426886], [115428241, 115428397], [115469764, 115469875], [115627213, 115627273], [115628147, 115628984]]	[[115420749, 115420790], [115423193, 115423284], [115426775, 115426886], [115428241, 115428397], [115469764, 115469875], [115627213, 115627273], [115628147, 115628186]]
ENST00000507356	[[115420712, 115420790], [115423193, 115423284], [115426775, 115426886], [115428241, 115428392], [115469764, 115469875], [115627213, 115627273], [115628147, 115628415]]	[[115420749, 115420790], [115423193, 115423284], [115426775, 115426886], [115428241, 115428392], [115469764, 115469790]]
ENST00000515539	[[115421170, 115421303], [115423193, 115423284], [115426775, 115426886], [115428241, 115428397], [115469764, 115469875], [115627213, 115627273], [115628147, 115628354]]	[[115423194, 115423284], [115426775, 115426886], [115428241, 115428397], [115469764, 115469875], [115627213, 115627273], [115628147, 115628186]]
ENST00000506589	[[115426775, 115426886], [115428241, 115428397], [115627213, 115627273], [115628147, 115628613]]	[[115426775, 115426886], [115428241, 115428397], [115627213, 115627273], [115628147, 115628186]]
ENST00000503424	[[115628153, 115628257], [115633943, 115634089], [115639226, 115639380], [115717974, 115718151], [115735178, 115735319], [115748339, 115748459]]	None
ENST00000508250	[[115627235, 115627273], [115628147, 115628257], [115633943, 115634089], [115639226, 115639380], [115642496, 115642620]]	None
NM_016144	[[115420672, 115420790], [115423193, 115423284], [115426775, 115426886], [115428241, 115428397], [115469764, 115469875], [115627213, 115627273], [115628147, 115628987]]	[[115420749, 115420790], [115423193, 115423284], [115426775, 115426886], [115428241, 115428397], [115469764, 115469875], [115627213, 115627273], [115628147, 115628186]]
NM_001308080	[[115421158, 115421303], [115423193, 115423284], [115426775, 115426886], [115428241, 115428397], [115469764, 115469875], [115627213, 115627273], [115628147, 115628987]]	[[115423194, 115423284], [115426775, 115426886], [115428241, 115428397], [115469764, 115469875], [115627213, 115627273], [115628147, 115628186]]

Promoter

Chrom	Start	End	Description
chr5	115420690	115420751	CAGE_peak_1_at_COMMD10_5end
chr5	115626749	115626788	CAGE_peak_6_at_COMMD10_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I116453	116453141	116456141	1.23	[{'connected_gene': 'SEMA6A', 'score': 20.59}, {'connected_gene': 'SEMA6A-AS2', 'score': 10.16}, {'connected_gene': 'COMMD10', 'score': 4.7}, {'connected_gene': 'SEMA6A-AS1', 'score': 0.44}, {'connected_gene': 'GC05P116420', 'score': 0.29}, {'connected_gene': 'GC05P116544', 'score': 0.16}]
chr5	GH05I116459	116459114	116459181	0.22	[{'connected_gene': 'SEMA6A', 'score': 10.42}, {'connected_gene': 'SEMA6A-AS2', 'score': 9.02}, {'connected_gene': 'COMMD10', 'score': 1.79}, {'connected_gene': 'SEMA6A-AS1', 'score': 0.39}, {'connected_gene': 'GC05P116544', 'score': 0.17}]
chr5	GH05I116858	116858481	116861108	0.78	[{'connected_gene': 'COMMD10', 'score': 4.32}, {'connected_gene': 'ENSG00000249150', 'score': 0.31}, {'connected_gene': 'LOC105379136', 'score': 0.28}]
chr5	GH05I116466	116466216	116468212	0.38	[{'connected_gene': 'COMMD10', 'score': 4.29}, {'connected_gene': 'SEMA6A-AS1', 'score': 0.37}, {'connected_gene': 'GC05P116544', 'score': 0.18}, {'connected_gene': 'SEMA6A', 'score': 0.14}]
chr5	GH05I116358	116358392	116362067	1.09	[{'connected_gene': 'COMMD10', 'score': 13.69}, {'connected_gene': 'SEMA6A-AS1', 'score': 10.7}, {'connected_gene': 'ENSG00000271918', 'score': 5.21}, {'connected_gene': 'LOC101927190', 'score': 0.39}, {'connected_gene': 'ENSG00000250015', 'score': 0.22}]
chr5	GH05I116428	116428497	116429853	0.43	[{'connected_gene': 'COMMD10', 'score': 7.83}, {'connected_gene': 'PIR40677', 'score': 0.77}, {'connected_gene': 'GC05P116420', 'score': 0.44}, {'connected_gene': 'PIR39104', 'score': 0.39}]
chr5	GH05I116089	116089265	116091131	0.46	[{'connected_gene': 'COMMD10', 'score': 16.66}, {'connected_gene': 'ENSG00000271918', 'score': 6.54}, {'connected_gene': 'ENSG00000272265', 'score': 5.66}, {'connected_gene': 'GC05P116137', 'score': 0.25}]
chr5	GH05I116052	116052001	116052400	0.5	[{'connected_gene': 'RPS25P6', 'score': 550.77}, {'connected_gene': 'GC05M116052', 'score': 550.77}, {'connected_gene': 'LVRN', 'score': 11.37}, {'connected_gene': 'ENSG00000251118', 'score': 8.75}, {'connected_gene': 'RNU2-49P', 'score': 8.75}, {'connected_gene': 'COMMD10', 'score': 6.13}, {'connected_gene': 'ARL14EPL', 'score': 0.37}]
chr5	GH05I116371	116371401	116372000	0.69	[{'connected_gene': 'SEMA6A-AS1', 'score': 10.56}, {'connected_gene': 'SEMA6A', 'score': 9.83}, {'connected_gene': 'SEMA6A-AS2', 'score': 9.83}, {'connected_gene': 'LOC101927190', 'score': 0.77}, {'connected_gene': 'ENSG00000250015', 'score': 0.2}, {'connected_gene': 'COMMD10', 'score': 0.06}]
chr5	GH05I116395	116395200	116396104	0.46	[{'connected_gene': 'SEMA6A-AS1', 'score': 10.86}, {'connected_gene': 'SEMA6A', 'score': 5.76}, {'connected_gene': 'LOC101927190', 'score': 0.34}, {'connected_gene': 'GC05P116420', 'score': 0.34}, {'connected_gene': 'COMMD10', 'score': 0.06}]
chr5	GH05I116273	116273564	116273713	0.65	[{'connected_gene': 'SEMA6A-AS1', 'score': 9.35}, {'connected_gene': 'GC05P116279', 'score': 0.44}, {'connected_gene': 'GC05M116263', 'score': 0.44}, {'connected_gene': 'COMMD10', 'score': 0.09}]
chr5	GH05I116389	116389024	116389113	0.49	[{'connected_gene': 'SEMA6A-AS1', 'score': 10.85}, {'connected_gene': 'LOC101927190', 'score': 0.39}, {'connected_gene': 'GC05P116420', 'score': 0.29}, {'connected_gene': 'COMMD10', 'score': 0.06}]
chr5	GH05I116385	116385499	116385861	0.28	[{'connected_gene': 'SEMA6A-AS1', 'score': 10.14}, {'connected_gene': 'LOC101927190', 'score': 0.39}, {'connected_gene': 'GC05P116420', 'score': 0.29}, {'connected_gene': 'COMMD10', 'score': 0.06}]
chr5	GH05I116344	116344001	116344213	0.69	[{'connected_gene': 'LOC101927190', 'score': 0.29}, {'connected_gene': 'ENSG00000250015', 'score': 0.28}, {'connected_gene': 'COMMD10', 'score': 0.07}]
chr5	GH05I116340	116340568	116340591	0.22	[{'connected_gene': 'LOC101927190', 'score': 0.29}, {'connected_gene': 'ENSG00000250015', 'score': 0.28}, {'connected_gene': 'COMMD10', 'score': 0.07}]
chr5	GH05I115623	115623046	115627266	2.3	[{'connected_gene': 'TMED7-TICAM2', 'score': 550.77}, {'connected_gene': 'TICAM2', 'score': 10.26}, {'connected_gene': 'LOC101927100', 'score': 7.28}, {'connected_gene': 'TMED7', 'score': 5.15}, {'connected_gene': 'COMMD10', 'score': 1.28}]
chr5	GH05I116083	116083871	116086386	2.26	[{'connected_gene': 'ENSG00000271918', 'score': 563.75}, {'connected_gene': 'COMMD10', 'score': 550.77}, {'connected_gene': 'GC05M116084', 'score': 550.77}, {'connected_gene': 'ENSG00000250015', 'score': 11.26}, {'connected_gene': 'ENSG00000272265', 'score': 6.32}]
chr5	GH05I116440	116440219	116442831	0.77	[{'connected_gene': 'PIR39104', 'score': 550.77}, {'connected_gene': 'COMMD10', 'score': 4.69}, {'connected_gene': 'PIR34238', 'score': 0.77}, {'connected_gene': 'GC05P116420', 'score': 0.34}]
chr5	GH05I116300	116300144	116300293	0.49	[{'connected_gene': 'ENSG00000271918', 'score': 6.62}, {'connected_gene': 'ENSG00000250015', 'score': 0.77}, {'connected_gene': 'GC05P116279', 'score': 0.34}, {'connected_gene': 'COMMD10', 'score': 0.08}]
chr5	GH05I116271	116271556	116271693	0.2	[{'connected_gene': 'GC05P116279', 'score': 0.44}, {'connected_gene': 'GC05M116263', 'score': 0.44}, {'connected_gene': 'COMMD10', 'score': 0.09}]
chr5	GH05I116076	116076436	116077000	1.1	[{'connected_gene': 'ENSG00000272265', 'score': 555.59}, {'connected_gene': 'LVRN', 'score': 10.92}, {'connected_gene': 'ATG12', 'score': 10.49}, {'connected_gene': 'AP3S1', 'score': 10.49}, {'connected_gene': 'TMED7', 'score': 10.48}, {'connected_gene': 'COMMD10', 'score': 6.56}, {'connected_gene': 'ENSG00000271918', 'score': 5.5}, {'connected_gene': 'RPS25P6', 'score': 0.34}]
chr5	GH05I116377	116377796	116379054	0.97	[{'connected_gene': 'ENSG00000250015', 'score': 16.02}, {'connected_gene': 'SEMA6A-AS1', 'score': 10.17}, {'connected_gene': 'COMMD10', 'score': 5.46}, {'connected_gene': 'ENSG00000271918', 'score': 4.45}, {'connected_gene': 'LOC101927190', 'score': 0.77}, {'connected_gene': 'GC05P116420', 'score': 0.26}]
chr5	GH05I116411	116411145	116411632	0.31	[{'connected_gene': 'GC05P116420', 'score': 0.44}, {'connected_gene': 'LOC101927190', 'score': 0.28}, {'connected_gene': 'COMMD10', 'score': 0.05}]