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
ENST00000552951	[[105380087, 105380245], [105381944, 105382031], [105385489, 105385626], [105388255, 105389004]]	[[105380130, 105380245], [105381944, 105382031], [105385489, 105385626], [105388255, 105388474]]
ENST00000280749	[[105380116, 105380245], [105381944, 105382031], [105388255, 105388498]]	[[105380130, 105380245], [105381944, 105382031], [105388255, 105388257]]
ENST00000548583	[[105388269, 105388427], [105389649, 105389804], [105443377, 105443515]]	None
NM_152318	[[105380097, 105380245], [105381944, 105382031], [105385489, 105385626], [105388255, 105388505]]	[[105380130, 105380245], [105381944, 105382031], [105385489, 105385626], [105388255, 105388474]]

Promoter

Chrom	Start	End	Description
chr12	105380073	105380122	CAGE_peak_1_at_C12orf45_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I105036	105036748	105038343	0.46	[{'connected_gene': 'SLC41A2', 'score': 18.06}, {'connected_gene': 'ALDH1L2', 'score': 11.75}, {'connected_gene': 'CHST11', 'score': 9.86}, {'connected_gene': 'C12orf45', 'score': 8.22}, {'connected_gene': 'PIR40149', 'score': 0.39}]
chr12	GH12I105031	105031001	105031600	0.56	[{'connected_gene': 'SLC41A2', 'score': 17.6}, {'connected_gene': 'PIR40149', 'score': 0.77}, {'connected_gene': 'C12orf45', 'score': 0.26}, {'connected_gene': 'ALDH1L2', 'score': 0.23}]
chr12	GH12I104957	104957200	104960546	1.54	[{'connected_gene': 'SLC41A2', 'score': 557.83}, {'connected_gene': 'C12orf45', 'score': 19.42}, {'connected_gene': 'KRT18P20', 'score': 0.37}]
chr12	GH12I104999	104999143	104999292	0.46	[{'connected_gene': 'SLC41A2', 'score': 17.99}, {'connected_gene': 'GC12M104965', 'score': 0.77}, {'connected_gene': 'GC12M105007', 'score': 0.44}, {'connected_gene': 'C12orf45', 'score': 0.39}]
chr12	GH12I104997	104997801	104998200	0.31	[{'connected_gene': 'SLC41A2', 'score': 11.31}, {'connected_gene': 'GC12M104965', 'score': 0.77}, {'connected_gene': 'GC12M105007', 'score': 0.39}, {'connected_gene': 'C12orf45', 'score': 0.39}]
chr12	GH12I104998	104998823	104998972	0.2	[{'connected_gene': 'SLC41A2', 'score': 11.29}, {'connected_gene': 'GC12M104965', 'score': 0.77}, {'connected_gene': 'GC12M105007', 'score': 0.44}, {'connected_gene': 'C12orf45', 'score': 0.39}]
chr12	GH12I104737	104737401	104743492	1.19	[{'connected_gene': 'TTC41P', 'score': 5.2}, {'connected_gene': 'C12orf45', 'score': 4.54}, {'connected_gene': 'GC12P104758', 'score': 0.37}, {'connected_gene': 'PIR42556', 'score': 0.29}, {'connected_gene': 'CHST11', 'score': 0.06}]
chr12	GH12I105020	105020186	105020329	0.31	[{'connected_gene': 'C12orf45', 'score': 11.24}, {'connected_gene': 'SLC41A2', 'score': 10.86}, {'connected_gene': 'PIR45033', 'score': 0.77}, {'connected_gene': 'PIR40149', 'score': 0.44}, {'connected_gene': 'ALDH1L2', 'score': 0.21}]
chr12	GH12I105021	105020604	105021527	0.31	[{'connected_gene': 'C12orf45', 'score': 19.61}, {'connected_gene': 'SLC41A2', 'score': 17.99}, {'connected_gene': 'PIR45033', 'score': 0.77}, {'connected_gene': 'PIR40149', 'score': 0.44}, {'connected_gene': 'ALDH1L2', 'score': 0.21}]
chr12	GH12I105024	105024151	105026641	0.6	[{'connected_gene': 'C12orf45', 'score': 19.8}, {'connected_gene': 'SLC41A2', 'score': 8.53}, {'connected_gene': 'PIR40149', 'score': 0.77}, {'connected_gene': 'PIR45033', 'score': 0.44}, {'connected_gene': 'ALDH1L2', 'score': 0.22}]
chr12	GH12I104952	104952815	104954018	0.56	[{'connected_gene': 'C12orf45', 'score': 10.68}, {'connected_gene': 'SLC41A2', 'score': 7.02}, {'connected_gene': 'GC12M104943', 'score': 0.44}]
chr12	GH12I104944	104944149	104945072	0.75	[{'connected_gene': 'C12orf45', 'score': 17.72}, {'connected_gene': 'GC12M104943', 'score': 0.77}, {'connected_gene': 'SLC41A2', 'score': 0.39}, {'connected_gene': 'GC12M104883', 'score': 0.22}]
chr12	GH12I104971	104971434	104971650	0.22	[{'connected_gene': 'C12orf45', 'score': 8.11}, {'connected_gene': 'WASHC4', 'score': 2.18}, {'connected_gene': 'KRT18P20', 'score': 0.44}, {'connected_gene': 'SLC41A2', 'score': 0.39}, {'connected_gene': 'GC12M104965', 'score': 0.34}]
chr12	GH12I104985	104985619	104987903	1.98	[{'connected_gene': 'C12orf45', 'score': 561.39}, {'connected_gene': 'LOC105369952', 'score': 550.77}, {'connected_gene': 'SLC41A2', 'score': 15.43}, {'connected_gene': 'NFYB', 'score': 11.73}, {'connected_gene': 'ALDH1L2', 'score': 10.58}, {'connected_gene': 'PIR60982', 'score': 0.77}, {'connected_gene': 'GC12M104965', 'score': 0.44}]
chr12	GH12I104986	104985443	104985592	0.52	[{'connected_gene': 'LOC105369952', 'score': 550.77}, {'connected_gene': 'C12orf45', 'score': 550.77}, {'connected_gene': 'KRT18P20', 'score': 0.44}, {'connected_gene': 'GC12M104965', 'score': 0.39}]
chr12	GH12I105053	105053163	105053332	0.77	[{'connected_gene': 'PIR40149', 'score': 0.31}, {'connected_gene': 'ALDH1L2', 'score': 0.29}, {'connected_gene': 'C12orf45', 'score': 0.2}]