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
ENST00000276390	[[20054877, 20055053], [20061994, 20062050], [20066943, 20067042], [20067856, 20067950], [20068079, 20068157], [20068687, 20068827], [20069162, 20069264], [20069612, 20069710], [20070292, 20070416], [20072328, 20072479], [20073923, 20074006], [20074730, 20074835], [20075663, 20075793], [20077773, 20079212]]	[[20054917, 20055053], [20061994, 20062050], [20066943, 20067042], [20067856, 20067950], [20068079, 20068157], [20068687, 20068827], [20069162, 20069264], [20069612, 20069710], [20070292, 20070416], [20072328, 20072479], [20073923, 20074006], [20074730, 20074835], [20075663, 20075793], [20077773, 20077913]]
ENST00000523482	[[20054913, 20055053], [20061994, 20062050], [20066943, 20067042], [20067856, 20067950], [20068079, 20068157], [20068687, 20068827], [20069162, 20069264], [20069612, 20069710], [20070292, 20074835], [20075663, 20075793], [20077773, 20079200]]	None
ENST00000523478	[[20054914, 20055053], [20061994, 20062050], [20066951, 20067042], [20067856, 20067950], [20068079, 20068157], [20068687, 20068801]]	[[20054917, 20055053], [20061994, 20062050], [20066951, 20066960]]
ENST00000520830	[[20054934, 20055053], [20061469, 20061594], [20061994, 20062050], [20066943, 20067042], [20067856, 20067950], [20068079, 20068157], [20068687, 20068765]]	[[20054934, 20055053], [20061469, 20061519]]
ENST00000519667	[[20054949, 20055053], [20061994, 20062050], [20066943, 20067042], [20067856, 20067950], [20068079, 20068157], [20068687, 20068926]]	[[20054949, 20055053], [20061994, 20062050], [20066943, 20067042], [20067856, 20067950], [20068079, 20068157], [20068687, 20068854]]
ENST00000521442	[[20075692, 20075793], [20082792, 20082917], [20083199, 20083330], [20083949, 20084330]]	[[20075692, 20075793], [20082792, 20082839]]
NM_001693	[[20054703, 20055053], [20061994, 20062050], [20066943, 20067042], [20067856, 20067950], [20068079, 20068157], [20068687, 20068827], [20069162, 20069264], [20069612, 20069710], [20070292, 20070416], [20072328, 20072479], [20073923, 20074006], [20074730, 20074835], [20075663, 20075793], [20077773, 20079207]]	[[20054917, 20055053], [20061994, 20062050], [20066943, 20067042], [20067856, 20067950], [20068079, 20068157], [20068687, 20068827], [20069162, 20069264], [20069612, 20069710], [20070292, 20070416], [20072328, 20072479], [20073923, 20074006], [20074730, 20074835], [20075663, 20075793], [20077773, 20077913]]

Promoter

Chrom	Start	End	Description
chr8	20054880	20054915	CAGE_peak_1_at_ATP6V1B2_5end
chr8	20067907	20067920	CAGE_peak_2_at_ATP6V1B2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I020099	20099001	20099568	0.62	[{'connected_gene': 'INTS10', 'score': 9.75}, {'connected_gene': 'ATP6V1B2', 'score': 4.46}, {'connected_gene': 'LOC105379310', 'score': 0.39}, {'connected_gene': 'LOC105379311', 'score': 0.34}]
chr8	GH08I020188	20188201	20190000	1.33	[{'connected_gene': 'ATP6V1B2', 'score': 27.64}, {'connected_gene': 'PIR35798', 'score': 0.77}, {'connected_gene': 'SLC18A1', 'score': 0.44}]
chr8	GH08I020186	20186201	20187848	1.18	[{'connected_gene': 'ATP6V1B2', 'score': 18.13}, {'connected_gene': 'SLC18A1', 'score': 0.77}, {'connected_gene': 'PIR35798', 'score': 0.44}]
chr8	GH08I019704	19704770	19705084	0.24	[{'connected_gene': 'ATP6V1B2', 'score': 17.87}, {'connected_gene': 'CSGALNACT1', 'score': 15.27}, {'connected_gene': 'INTS10', 'score': 9.87}, {'connected_gene': 'ENSG00000253270', 'score': 0.31}]
chr8	GH08I020085	20085855	20087844	1.12	[{'connected_gene': 'ATP6V1B2', 'score': 12.97}, {'connected_gene': 'CSGALNACT1', 'score': 8.5}, {'connected_gene': 'LOC105379311', 'score': 0.44}, {'connected_gene': 'LOC105379310', 'score': 0.34}]
chr8	GH08I020196	20196540	20199379	2.57	[{'connected_gene': 'ATP6V1B2', 'score': 589.29}, {'connected_gene': 'INTS10', 'score': 11.64}, {'connected_gene': 'GC08P020230', 'score': 0.29}]
chr8	GH08I020206	20206679	20206996	0.52	[{'connected_gene': 'ATP6V1B2', 'score': 28.61}, {'connected_gene': 'RNU6-892P', 'score': 11.63}, {'connected_gene': 'SLC18A1', 'score': 10.72}, {'connected_gene': 'LZTS1', 'score': 10.14}, {'connected_gene': 'GC08P020230', 'score': 0.34}]
chr8	GH08I020175	20175181	20177164	0.31	[{'connected_gene': 'ATP6V1B2', 'score': 11.25}, {'connected_gene': 'RNU6-892P', 'score': 9.85}, {'connected_gene': 'SLC18A1', 'score': 8.88}, {'connected_gene': 'GC08M020154', 'score': 0.34}]
chr8	GH08I020199	20199566	20205061	1.53	[{'connected_gene': 'ATP6V1B2', 'score': 33.84}, {'connected_gene': 'RNU6-892P', 'score': 10.9}, {'connected_gene': 'GC08P020230', 'score': 0.31}]
chr8	GH08I019975	19975334	19975664	0.24	[{'connected_gene': 'ATP6V1B2', 'score': 8.14}, {'connected_gene': 'GC08M019958', 'score': 0.39}, {'connected_gene': 'LOC105379311', 'score': 0.15}]
chr8	GH08I020208	20208871	20210064	0.2	[{'connected_gene': 'RNU6-892P', 'score': 11.63}, {'connected_gene': 'SLC18A1', 'score': 11.08}, {'connected_gene': 'LZTS1', 'score': 10.15}, {'connected_gene': 'ATP6V1B2', 'score': 0.39}, {'connected_gene': 'GC08P020230', 'score': 0.34}]
chr8	GH08I020125	20125288	20125646	0.44	[{'connected_gene': 'LOC105379312', 'score': 550.77}, {'connected_gene': 'LOC105379311', 'score': 10.96}, {'connected_gene': 'INTS10', 'score': 10.66}, {'connected_gene': 'ATP6V1B2', 'score': 9.17}, {'connected_gene': 'GC08M020154', 'score': 0.31}]
chr8	GH08I020220	20220422	20224454	1.12	[{'connected_gene': 'GC08P020230', 'score': 0.44}, {'connected_gene': 'ATP6V1B2', 'score': 0.31}]
chr8	GH08I020217	20217756	20219669	0.31	[{'connected_gene': 'GC08P020230', 'score': 0.39}, {'connected_gene': 'ATP6V1B2', 'score': 0.34}]
chr8	GH08I020192	20192952	20194273	0.43	[{'connected_gene': 'PIR35798', 'score': 550.77}, {'connected_gene': 'ATP6V1B2', 'score': 0.77}]
chr8	GH08I020226	20226841	20229325	0.2	[{'connected_gene': 'GC08P020230', 'score': 550.77}, {'connected_gene': 'RNU6-892P', 'score': 550.77}, {'connected_gene': 'ATP6V1B2', 'score': 0.29}]