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
ENST00000283309	[[168456424, 168458019], [168459803, 168459868], [168461440, 168461737], [168462486, 168462661], [168463573, 168463639], [168464280, 168464436], [168465550, 168465737], [168467434, 168467511], [168468046, 168468126], [168475924, 168476015], [168479561, 168479839]]	[[168457776, 168458019], [168459803, 168459868], [168461440, 168461737], [168462486, 168462661], [168463573, 168463639], [168464280, 168464436], [168465550, 168465737], [168467434, 168467511], [168468046, 168468126], [168475924, 168476015], [168479561, 168479774]]
ENST00000432403	[[168456463, 168458019], [168459803, 168459868], [168461440, 168461737], [168462486, 168462661], [168463350, 168463419], [168463573, 168463639], [168464280, 168464436], [168465550, 168465737], [168466578, 168466657]]	None
ENST00000358587	[[168456483, 168458019], [168459803, 168459868], [168461440, 168461737], [168462486, 168462661], [168463350, 168463419], [168463573, 168463639], [168464280, 168464436], [168465584, 168467511], [168468046, 168468126], [168475924, 168476015], [168479561, 168479704], [168479785, 168479857]]	None
ENST00000440994	[[168456484, 168458019], [168459803, 168459868], [168461440, 168461737], [168462486, 168462661], [168463573, 168463639], [168464280, 168464436], [168465550, 168465737], [168467434, 168467511], [168468046, 168468126], [168475924, 168476015], [168476418, 168476546]]	[[168457776, 168458019], [168459803, 168459868], [168461440, 168461737], [168462486, 168462661], [168463573, 168463639], [168464280, 168464436], [168465550, 168465737], [168467434, 168467511], [168468046, 168468126], [168475924, 168476015], [168476418, 168476427]]
ENST00000468647	[[168456484, 168458019], [168458184, 168458403], [168459803, 168459868], [168461440, 168461737], [168462486, 168462661], [168463350, 168463419], [168463573, 168463639], [168464280, 168464436], [168465550, 168465737], [168466578, 168466658], [168466918, 168467014], [168467434, 168467809], [168468046, 168468126], [168475924, 168476015], [168479561, 168479704], [168482022, 168482209]]	[[168467767, 168467809], [168468046, 168468126], [168475924, 168476015], [168479561, 168479704], [168482022, 168482209]]
ENST00000537786	[[168457496, 168458019], [168459803, 168459868], [168461440, 168461737], [168462486, 168462661], [168463573, 168463639], [168464280, 168464436], [168465550, 168465737], [168467434, 168467511], [168467748, 168467809], [168468046, 168468088]]	[[168457776, 168458019], [168459803, 168459868], [168461440, 168461737], [168462486, 168462661], [168463573, 168463639], [168464280, 168464397]]
ENST00000509157	[[168457496, 168458019], [168459803, 168459868], [168461440, 168461737], [168462486, 168462661], [168463573, 168463639], [168464280, 168464436], [168465550, 168465737], [168467434, 168467511], [168467748, 168467809], [168468046, 168468126], [168475924, 168476015], [168479561, 168479704], [168482022, 168482209]]	[[168467767, 168467809], [168468046, 168468126], [168475924, 168476015], [168479561, 168479704], [168482022, 168482209]]
ENST00000336070	[[168457668, 168458019], [168459803, 168459868], [168461440, 168461737], [168462486, 168462661], [168463350, 168463419], [168463573, 168463639], [168464280, 168464436], [168465550, 168465737], [168467434, 168467511], [168468046, 168468203]]	None
ENST00000506415	[[168464354, 168464436], [168465550, 168465737], [168467434, 168467511], [168467748, 168467809], [168468046, 168468195]]	None
ENST00000511714	[[168465735, 168465737], [168467434, 168467511], [168468046, 168468126], [168475924, 168476015], [168479561, 168479704], [168482022, 168482237]]	[[168467434, 168467511], [168468046, 168468126], [168475924, 168476015], [168479561, 168479704], [168482022, 168482218]]
NM_001122841	[[168456463, 168458019], [168459803, 168459868], [168461440, 168461737], [168462486, 168462661], [168463573, 168463639], [168464280, 168464436], [168465550, 168465737], [168467434, 168467511], [168468046, 168468126], [168475924, 168476015], [168476418, 168476546]]	[[168457776, 168458019], [168459803, 168459868], [168461440, 168461737], [168462486, 168462661], [168463573, 168463639], [168464280, 168464436], [168465550, 168465737], [168467434, 168467511], [168468046, 168468126], [168475924, 168476015], [168476418, 168476427]]
NM_024919	[[168456463, 168458019], [168459803, 168459868], [168461440, 168461737], [168462486, 168462661], [168463573, 168463639], [168464280, 168464436], [168465550, 168465737], [168467434, 168467511], [168468046, 168468126], [168475924, 168476015], [168479561, 168479839]]	[[168457776, 168458019], [168459803, 168459868], [168461440, 168461737], [168462486, 168462661], [168463573, 168463639], [168464280, 168464436], [168465550, 168465737], [168467434, 168467511], [168468046, 168468126], [168475924, 168476015], [168479561, 168479774]]
NR_110312	[[168456463, 168458019], [168458184, 168458403], [168459803, 168459868], [168461440, 168461737], [168462486, 168462661], [168463350, 168463419], [168463573, 168463639], [168464280, 168464436], [168465550, 168465737], [168466578, 168466658], [168466918, 168467014], [168467434, 168467809], [168468046, 168468126], [168475924, 168476015], [168479561, 168479704], [168482022, 168482237]]	None

Promoter

Chrom	Start	End	Description
chr6	168468082	168468089	CAGE_peak_2_at_FRMD1_5end
chr6	168468189	168468206	CAGE_peak_4_at_FRMD1_5end
chr6	168476511	168476518	CAGE_peak_7_at_FRMD1_5end
chr6	168479679	168479688	CAGE_peak_6_at_FRMD1_5end
chr6	168479694	168479708	CAGE_peak_3_at_FRMD1_5end
chr6	168479856	168479904	CAGE_peak_1_at_FRMD1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I168909	168908833	168909175	0.7	[{'connected_gene': 'FRMD1', 'score': 9.02}, {'connected_gene': 'THBS2', 'score': 1.44}, {'connected_gene': 'GC06P168880', 'score': 0.31}, {'connected_gene': 'GC06P168941', 'score': 0.29}]
chr6	GH06I167892	167892207	167894628	0.57	[{'connected_gene': 'FRMD1', 'score': 9.56}, {'connected_gene': 'AFDN', 'score': 6.95}, {'connected_gene': 'LOC441179', 'score': 6.54}, {'connected_gene': 'PIR39756', 'score': 0.77}]
chr6	GH06I167956	167956720	167957786	0.72	[{'connected_gene': 'FRMD1', 'score': 10.08}, {'connected_gene': 'AFDN', 'score': 7.9}, {'connected_gene': 'HGC6.3', 'score': 0.34}, {'connected_gene': 'PIR39756', 'score': 0.22}]
chr6	GH06I167860	167860371	167861192	0.74	[{'connected_gene': 'FRMD1', 'score': 8.83}, {'connected_gene': 'AFDN', 'score': 0.29}, {'connected_gene': 'PIR39756', 'score': 0.28}]
chr6	GH06I168024	168024261	168024410	0.91	[{'connected_gene': 'FRMD1', 'score': 11.61}, {'connected_gene': 'KIF25', 'score': 7.38}, {'connected_gene': 'LOC105378135', 'score': 0.34}, {'connected_gene': 'KIF25-AS1', 'score': 0.31}]
chr6	GH06I168260	168260305	168262830	0.89	[{'connected_gene': 'FRMD1', 'score': 10.24}, {'connected_gene': 'LOC105378137', 'score': 4.85}, {'connected_gene': 'LOC101929420', 'score': 0.37}, {'connected_gene': 'CTAGE13P', 'score': 0.31}]
chr6	GH06I168200	168200221	168200230	0.31	[{'connected_gene': 'FRMD1', 'score': 9.85}, {'connected_gene': 'ENSG00000234768', 'score': 0.44}, {'connected_gene': 'LOC105378137', 'score': 0.31}]
chr6	GH06I168202	168200318	168201371	0.91	[{'connected_gene': 'FRMD1', 'score': 9.85}, {'connected_gene': 'ENSG00000234768', 'score': 0.44}, {'connected_gene': 'LOC105378137', 'score': 0.31}]
chr6	GH06I168025	168024452	168024702	0.86	[{'connected_gene': 'FRMD1', 'score': 11.61}, {'connected_gene': 'LOC105378135', 'score': 0.34}, {'connected_gene': 'KIF25-AS1', 'score': 0.31}, {'connected_gene': 'KIF25', 'score': 0.31}]
chr6	GH06I167491	167491309	167492325	0.43	[{'connected_gene': 'FRMD1', 'score': 9.85}, {'connected_gene': 'LOC105378128', 'score': 0.39}, {'connected_gene': 'LOC105378129', 'score': 0.23}]
chr6	GH06I167494	167494002	167494748	0.46	[{'connected_gene': 'FRMD1', 'score': 9.85}, {'connected_gene': 'LOC105378128', 'score': 0.39}, {'connected_gene': 'LOC105378129', 'score': 0.23}]
chr6	GH06I167473	167473238	167473447	0.31	[{'connected_gene': 'FRMD1', 'score': 9.64}, {'connected_gene': 'LOC105378127', 'score': 0.44}, {'connected_gene': 'LOC105378128', 'score': 0.44}]
chr6	GH06I168033	168033970	168038256	1.2	[{'connected_gene': 'FRMD1', 'score': 12.03}, {'connected_gene': 'KIF25-AS1', 'score': 7.98}, {'connected_gene': 'LOC105378135', 'score': 0.39}, {'connected_gene': 'KIF25', 'score': 0.28}]
chr6	GH06I168281	168281535	168281914	0.22	[{'connected_gene': 'FRMD1', 'score': 10.48}, {'connected_gene': 'CTAGE13P', 'score': 0.44}, {'connected_gene': 'LOC101929420', 'score': 0.28}]
chr6	GH06I168915	168914948	168917387	0.38	[{'connected_gene': 'FRMD1', 'score': 9.18}, {'connected_gene': 'GC06P168941', 'score': 0.31}, {'connected_gene': 'GC06P168880', 'score': 0.28}]
chr6	GH06I168913	168913131	168914232	0.57	[{'connected_gene': 'FRMD1', 'score': 9.02}, {'connected_gene': 'ENSG00000232640', 'score': 5.6}, {'connected_gene': 'GC06P168941', 'score': 0.31}, {'connected_gene': 'GC06P168880', 'score': 0.29}]
chr6	GH06I168914	168914235	168914334	0.22	[{'connected_gene': 'FRMD1', 'score': 9.02}, {'connected_gene': 'GC06P168941', 'score': 0.31}, {'connected_gene': 'GC06P168880', 'score': 0.29}]
chr6	GH06I168098	168098041	168098190	0.38	[{'connected_gene': 'FRMD1', 'score': 0.77}, {'connected_gene': 'PIR41270', 'score': 0.28}]
chr6	GH06I168131	168131955	168133713	1.04	[{'connected_gene': 'FRMD1', 'score': 11.14}, {'connected_gene': 'GC06M168169', 'score': 0.26}]
chr6	GH06I168093	168093050	168093330	1	[{'connected_gene': 'FRMD1', 'score': 0.44}, {'connected_gene': 'PIR41270', 'score': 0.29}]
chr6	GH06I168075	168075825	168075884	0.86	[{'connected_gene': 'FRMD1', 'score': 550.31}, {'connected_gene': 'PIR41270', 'score': 0.37}]
chr6	GH06I168079	168079073	168079555	0.54	[{'connected_gene': 'FRMD1', 'score': 21.16}, {'connected_gene': 'PIR41270', 'score': 0.37}]
chr6	GH06I168116	168116724	168118024	0.73	[{'connected_gene': 'FRMD1', 'score': 0.37}, {'connected_gene': 'GC06M168169', 'score': 0.22}]
chr6	GH06I168071	168071701	168071850	0.54	[{'connected_gene': 'FRMD1', 'score': 13.73}, {'connected_gene': 'PIR41270', 'score': 0.39}]
chr6	GH06I168102	168102701	168102830	0.31	[{'connected_gene': 'FRMD1', 'score': 550.77}, {'connected_gene': 'GC06M168169', 'score': 0.19}]
chr6	GH06I168087	168087519	168089972	0.94	[{'connected_gene': 'FRMD1', 'score': 11.45}, {'connected_gene': 'PIR41270', 'score': 0.31}]
chr6	GH06I167506	167506368	167507320	0.77	[{'connected_gene': 'LINC01558', 'score': 9.98}, {'connected_gene': 'FRMD1', 'score': 9.78}, {'connected_gene': 'LOC105378128', 'score': 0.31}, {'connected_gene': 'LOC105378129', 'score': 0.28}]
chr6	GH06I167854	167854546	167859638	1.44	[{'connected_gene': 'LINC01558', 'score': 10.36}, {'connected_gene': 'FRMD1', 'score': 8.83}, {'connected_gene': 'KIF25-AS1', 'score': 6.24}, {'connected_gene': 'AFDN', 'score': 0.29}, {'connected_gene': 'PIR39756', 'score': 0.26}]
chr6	GH06I168007	168007021	168008732	1.22	[{'connected_gene': 'KIF25-AS1', 'score': 13.95}, {'connected_gene': 'FRMD1', 'score': 10.56}, {'connected_gene': 'KIF25', 'score': 4.82}, {'connected_gene': 'LOC105378135', 'score': 0.28}]
chr6	GH06I167963	167963141	167966297	0.88	[{'connected_gene': 'KIF25-AS1', 'score': 11.47}, {'connected_gene': 'KIF25', 'score': 11.47}, {'connected_gene': 'FRMD1', 'score': 10.22}, {'connected_gene': 'AFDN', 'score': 8.12}, {'connected_gene': 'HGC6.3', 'score': 5.68}, {'connected_gene': 'PIR39756', 'score': 0.2}]
chr6	GH06I168017	168017281	168017430	0.2	[{'connected_gene': 'KIF25-AS1', 'score': 21.94}, {'connected_gene': 'KIF25', 'score': 11.67}, {'connected_gene': 'FRMD1', 'score': 10.77}, {'connected_gene': 'LOC105378135', 'score': 0.31}]
chr6	GH06I168030	168030667	168033667	0.82	[{'connected_gene': 'KIF25-AS1', 'score': 21.12}, {'connected_gene': 'KIF25', 'score': 18.5}, {'connected_gene': 'FRMD1', 'score': 11.39}, {'connected_gene': 'LOC105378135', 'score': 0.39}]
chr6	GH06I168018	168016912	168017242	0.31	[{'connected_gene': 'KIF25-AS1', 'score': 25.48}, {'connected_gene': 'KIF25', 'score': 16.62}, {'connected_gene': 'FRMD1', 'score': 10.77}, {'connected_gene': 'LOC105378135', 'score': 0.31}]
chr6	GH06I167948	167948260	167950119	0.31	[{'connected_gene': 'KIF25-AS1', 'score': 11.34}, {'connected_gene': 'KIF25', 'score': 11.34}, {'connected_gene': 'FRMD1', 'score': 10.03}, {'connected_gene': 'HGC6.3', 'score': 5.44}, {'connected_gene': 'AFDN', 'score': 5.06}, {'connected_gene': 'PIR39756', 'score': 0.23}]
chr6	GH06I168289	168289307	168289408	0.33	[{'connected_gene': 'CTAGE13P', 'score': 550.77}, {'connected_gene': 'FRMD1', 'score': 29.14}, {'connected_gene': 'LOC105378138', 'score': 0.39}]
chr6	GH06I167979	167979401	167980309	0.2	[{'connected_gene': 'HGC6.3', 'score': 550.77}, {'connected_gene': 'FRMD1', 'score': 10.35}, {'connected_gene': 'KIF25', 'score': 0.37}]
chr6	GH06I168171	168171121	168172946	0.49	[{'connected_gene': 'GC06M168169', 'score': 0.77}, {'connected_gene': 'FRMD1', 'score': 0.19}]
chr6	GH06I168156	168156852	168159039	0.97	[{'connected_gene': 'GC06M168169', 'score': 0.37}, {'connected_gene': 'FRMD1', 'score': 0.22}]
chr6	GH06I168060	168060400	168060710	0.88	[{'connected_gene': 'PIR41270', 'score': 550.77}, {'connected_gene': 'LOC105378135', 'score': 0.39}, {'connected_gene': 'FRMD1', 'score': 0.26}]