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
ENST00000442114	[[43968316, 43968880], [43969789, 43969864], [43970417, 43972887]]	[[43968732, 43968880], [43969789, 43969864], [43970417, 43970863]]
ENST00000336600	[[43968336, 43968437], [43968753, 43968880], [43969789, 43969864], [43970417, 43973695]]	[[43968356, 43968437], [43968753, 43968880], [43969789, 43969864], [43970417, 43970863]]
ENST00000439969	[[43968353, 43968437], [43968710, 43968880], [43969789, 43969864], [43970417, 43972845]]	[[43968356, 43968437], [43968710, 43968880], [43969789, 43969856]]
ENST00000448947	[[43968368, 43968437], [43969789, 43969864], [43970417, 43971142]]	None
NM_001324369	[[43968336, 43968437], [43969789, 43969864], [43970417, 43975352]]	[[43970470, 43970863]]
NM_153246	[[43968336, 43968437], [43968753, 43968880], [43969789, 43969864], [43970417, 43975352]]	[[43968356, 43968437], [43968753, 43968880], [43969789, 43969864], [43970417, 43970863]]
NM_001171992	[[43968336, 43968437], [43968710, 43968880], [43969789, 43969864], [43970417, 43975352]]	[[43968356, 43968437], [43968710, 43968880], [43969789, 43969856]]

Promoter

Chrom	Start	End	Description
chr6	43968306	43968377	CAGE_peak_1_at_C6orf223_5end
chr6	43968387	43968410	CAGE_peak_2_at_C6orf223_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I044033	44033804	44037400	1.42	[{'connected_gene': 'NFKBIE', 'score': 13.83}, {'connected_gene': 'C6orf223', 'score': 12.99}, {'connected_gene': 'VEGFA', 'score': 12.84}, {'connected_gene': 'RSPH9', 'score': 10.24}, {'connected_gene': 'SLC29A1', 'score': 9.53}, {'connected_gene': 'GTPBP2', 'score': 1.58}, {'connected_gene': 'MAD2L1BP', 'score': 1.37}, {'connected_gene': 'GC06P044013', 'score': 0.34}, {'connected_gene': 'GC06M044069', 'score': 0.28}, {'connected_gene': 'LOC101929705', 'score': 0.28}]
chr6	GH06I044040	44040234	44045150	1.75	[{'connected_gene': 'ZNF318', 'score': 85.89}, {'connected_gene': 'ABCC10', 'score': 78.37}, {'connected_gene': 'POLH', 'score': 74.43}, {'connected_gene': 'GTPBP2', 'score': 72.18}, {'connected_gene': 'CUL7', 'score': 66.48}, {'connected_gene': 'RPS2P29', 'score': 41.83}, {'connected_gene': 'RPL34P14', 'score': 32.15}, {'connected_gene': 'XPO5', 'score': 27.58}, {'connected_gene': 'POLR1C', 'score': 22.33}, {'connected_gene': 'SLC35B2', 'score': 21.73}, {'connected_gene': 'TJAP1', 'score': 18.55}, {'connected_gene': 'MYMX', 'score': 12.66}, {'connected_gene': 'AARS2', 'score': 11.62}, {'connected_gene': 'YIPF3', 'score': 10.87}, {'connected_gene': 'ENSG00000271970', 'score': 9.72}, {'connected_gene': 'MRPL14', 'score': 2.2}, {'connected_gene': 'C6orf223', 'score': 1.77}, {'connected_gene': 'VEGFA', 'score': 1.38}, {'connected_gene': 'GC06P044013', 'score': 0.31}, {'connected_gene': 'GC06M044069', 'score': 0.29}, {'connected_gene': 'LOC101929705', 'score': 0.29}]
chr6	GH06I044007	44007396	44007460	0.59	[{'connected_gene': 'C6orf223', 'score': 2.22}, {'connected_gene': 'CDC5L', 'score': 1.38}, {'connected_gene': 'GC06P044013', 'score': 0.44}, {'connected_gene': 'LOC101929705', 'score': 0.2}]
chr6	GH06I043977	43977228	43978187	1.34	[{'connected_gene': 'C6orf223', 'score': 12.49}, {'connected_gene': 'NFKBIE', 'score': 6.83}, {'connected_gene': 'GC06M043993', 'score': 0.37}, {'connected_gene': 'LOC105375067', 'score': 0.18}]
chr6	GH06I043999	43999661	44007000	2.39	[{'connected_gene': 'C6orf223', 'score': 550.77}, {'connected_gene': 'ZNF318', 'score': 12.18}, {'connected_gene': 'LOC101929705', 'score': 11.18}, {'connected_gene': 'CDC5L', 'score': 11.12}, {'connected_gene': 'RPL34P14', 'score': 10.4}, {'connected_gene': 'CUL7', 'score': 4.93}, {'connected_gene': 'GC06P044013', 'score': 0.44}]
chr6	GH06I044028	44028776	44030228	0.77	[{'connected_gene': 'C6orf223', 'score': 13.03}, {'connected_gene': 'RSPH9', 'score': 10.24}, {'connected_gene': 'SLC29A1', 'score': 9.52}, {'connected_gene': 'GC06P044013', 'score': 0.37}, {'connected_gene': 'GC06M044069', 'score': 0.26}, {'connected_gene': 'LOC101929705', 'score': 0.25}]
chr6	GH06I044030	44030975	44031526	0.2	[{'connected_gene': 'C6orf223', 'score': 13.01}, {'connected_gene': 'RSPH9', 'score': 10.25}, {'connected_gene': 'SLC29A1', 'score': 9.53}, {'connected_gene': 'GC06P044013', 'score': 0.37}, {'connected_gene': 'LOC101929705', 'score': 0.26}, {'connected_gene': 'GC06M044069', 'score': 0.26}]
chr6	GH06I044027	44027493	44028405	0.31	[{'connected_gene': 'C6orf223', 'score': 13.03}, {'connected_gene': 'RSPH9', 'score': 10.24}, {'connected_gene': 'SLC29A1', 'score': 9.52}, {'connected_gene': 'GC06P044013', 'score': 0.39}, {'connected_gene': 'LOC101929705', 'score': 0.25}, {'connected_gene': 'GC06M044069', 'score': 0.25}]
chr6	GH06I043997	43997464	43997549	0.63	[{'connected_gene': 'C6orf223', 'score': 0.77}, {'connected_gene': 'GC06M043993', 'score': 0.77}, {'connected_gene': 'LOC101929705', 'score': 0.18}]
chr6	GH06I044009	44009869	44013397	1.63	[{'connected_gene': 'GC06P044013', 'score': 550.77}, {'connected_gene': 'NFKBIE', 'score': 7.97}, {'connected_gene': 'VEGFA', 'score': 2.42}, {'connected_gene': 'MAD2L1BP', 'score': 1.45}, {'connected_gene': 'C6orf223', 'score': 0.39}, {'connected_gene': 'LOC101929705', 'score': 0.21}]
chr6	GH06I044008	44007715	44009692	0.46	[{'connected_gene': 'GC06P044013', 'score': 0.77}, {'connected_gene': 'C6orf223', 'score': 0.44}, {'connected_gene': 'LOC101929705', 'score': 0.2}]
chr6	GH06I044071	44071244	44077836	2.08	[{'connected_gene': 'GC06M044069', 'score': 550.77}, {'connected_gene': 'LOC101929705', 'score': 550.77}, {'connected_gene': 'ENSG00000231881', 'score': 550.77}, {'connected_gene': 'ZNF318', 'score': 30.86}, {'connected_gene': 'GTPBP2', 'score': 30.12}, {'connected_gene': 'POLH', 'score': 28.64}, {'connected_gene': 'ABCC10', 'score': 26.14}, {'connected_gene': 'VEGFA', 'score': 14.42}, {'connected_gene': 'RPS2P29', 'score': 13.48}, {'connected_gene': 'RPL34P14', 'score': 12.93}, {'connected_gene': 'AARS2', 'score': 11.63}, {'connected_gene': 'YIPF3', 'score': 11.38}, {'connected_gene': 'SLC35B2', 'score': 10.58}, {'connected_gene': 'CDC5L', 'score': 10.55}, {'connected_gene': 'SPATS1', 'score': 9.76}, {'connected_gene': 'PTK7', 'score': 9.68}, {'connected_gene': 'MRPL14', 'score': 7.3}, {'connected_gene': 'TMEM63B', 'score': 5.29}, {'connected_gene': 'NFKBIE', 'score': 4.84}, {'connected_gene': 'C6orf223', 'score': 1.86}, {'connected_gene': 'MAD2L1BP', 'score': 1.47}]
chr6	GH06I043995	43995924	43997397	1	[{'connected_gene': 'GC06M043993', 'score': 550.77}, {'connected_gene': 'LOC101929705', 'score': 7.58}, {'connected_gene': 'C6orf223', 'score': 0.77}]