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
ENST00000309982	[[104152937, 104153285], [104225146, 104225313], [104240216, 104242532]]	[[104153125, 104153285], [104225146, 104225313], [104240216, 104240327]]
ENST00000438105	[[104152940, 104153285], [104240216, 104242533]]	[[104153125, 104153285], [104240216, 104240221]]
ENST00000297574	[[104152986, 104153285], [104212885, 104212990], [104225146, 104225313], [104240216, 104240446]]	[[104153125, 104153285], [104212885, 104212990], [104225146, 104225313], [104240216, 104240327]]
ENST00000330955	[[104153125, 104153285], [104210326, 104210388]]	[[104153125, 104153285], [104210326, 104210388]]
ENST00000519507	[[104165366, 104165538], [104225146, 104225313], [104240216, 104240360]]	None
ENST00000306391	[[104153125, 104153285], [104195594, 104195677]]	[[104153125, 104153285], [104195594, 104195677]]
ENST00000517863	[[104220419, 104220725], [104225146, 104225313], [104227148, 104227231]]	None
ENST00000523754	[[104225558, 104225822], [104240216, 104241373]]	None
ENST00000521926	[[104225638, 104225822], [104231692, 104231782], [104240216, 104240394]]	None
NM_001024372	[[104152920, 104153285], [104240216, 104242533]]	[[104153125, 104153285], [104240216, 104240221]]
NM_024812	[[104152920, 104153285], [104225146, 104225313], [104240216, 104242533]]	[[104153125, 104153285], [104225146, 104225313], [104240216, 104240327]]

Promoter

Chrom	Start	End	Description
chr8	104152597	104152607	CAGE_peak_4_at_BAALC_5end
chr8	104152922	104152992	CAGE_peak_1_at_BAALC_5end
chr8	104153060	104153101	CAGE_peak_2_at_BAALC_5end
chr8	104153147	104153150	CAGE_peak_3_at_BAALC_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I103136	103136173	103136282	0.93	[{'connected_gene': 'FZD6', 'score': 12.29}, {'connected_gene': 'BAALC', 'score': 0.77}, {'connected_gene': 'BAALC-AS2', 'score': 0.44}, {'connected_gene': 'LINC01181', 'score': 0.37}]
chr8	GH08I103266	103266133	103266282	0.2	[{'connected_gene': 'FZD6', 'score': 14.99}, {'connected_gene': 'BAALC-AS2', 'score': 11.05}, {'connected_gene': 'BAALC-AS1', 'score': 10.94}, {'connected_gene': 'ENSG00000253851', 'score': 10.81}, {'connected_gene': 'LINC01181', 'score': 10.54}, {'connected_gene': 'BAALC', 'score': 5.08}, {'connected_gene': 'PIR51808', 'score': 0.39}, {'connected_gene': 'LOC105369147', 'score': 0.29}]
chr8	GH08I103333	103333813	103335305	0.46	[{'connected_gene': 'FZD6', 'score': 24.57}, {'connected_gene': 'RNU6-1011P', 'score': 10.71}, {'connected_gene': 'BAALC-AS1', 'score': 10.7}, {'connected_gene': 'LINC01181', 'score': 9.16}, {'connected_gene': 'CTHRC1', 'score': 6.5}, {'connected_gene': 'BAALC', 'score': 4.35}, {'connected_gene': 'GC08P103328', 'score': 0.44}, {'connected_gene': 'GC08P103357', 'score': 0.34}]
chr8	GH08I103268	103268311	103270368	0.71	[{'connected_gene': 'FZD6', 'score': 24.49}, {'connected_gene': 'BAALC-AS1', 'score': 11.55}, {'connected_gene': 'CTHRC1', 'score': 11.31}, {'connected_gene': 'BAALC-AS2', 'score': 11.06}, {'connected_gene': 'ENSG00000253851', 'score': 11.04}, {'connected_gene': 'LINC01181', 'score': 10.54}, {'connected_gene': 'BAALC', 'score': 5.2}, {'connected_gene': 'PIR51808', 'score': 0.39}, {'connected_gene': 'LOC105369147', 'score': 0.31}]
chr8	GH08I103196	103196506	103198441	0.31	[{'connected_gene': 'FZD6', 'score': 9.89}, {'connected_gene': 'PIR39342', 'score': 0.34}, {'connected_gene': 'MIR3151', 'score': 0.26}, {'connected_gene': 'BAALC', 'score': 0.22}, {'connected_gene': 'BAALC-AS1', 'score': 0.15}]
chr8	GH08I103176	103176734	103176877	0.42	[{'connected_gene': 'BAALC', 'score': 16.83}, {'connected_gene': 'BAALC-AS2', 'score': 12.48}, {'connected_gene': 'LINC01181', 'score': 10.64}, {'connected_gene': 'FZD6', 'score': 10.47}, {'connected_gene': 'BAALC-AS1', 'score': 10.47}, {'connected_gene': 'AZIN1', 'score': 2.98}, {'connected_gene': 'ATP6V1C1', 'score': 2.14}, {'connected_gene': 'MIR3151', 'score': 0.34}, {'connected_gene': 'PIR39342', 'score': 0.25}]
chr8	GH08I103138	103138215	103139514	0.4	[{'connected_gene': 'BAALC', 'score': 557.06}, {'connected_gene': 'BAALC-AS2', 'score': 0.77}, {'connected_gene': 'LINC01181', 'score': 0.37}]
chr8	GH08I103104	103104080	103106859	1.36	[{'connected_gene': 'KLF10', 'score': 11.82}, {'connected_gene': 'ATP6V1C1', 'score': 11.53}, {'connected_gene': 'BAALC', 'score': 4.35}, {'connected_gene': 'AZIN1', 'score': 3.5}, {'connected_gene': 'SLC25A32', 'score': 1.98}, {'connected_gene': 'MTCO2P4', 'score': 0.39}, {'connected_gene': 'LINC01181', 'score': 0.37}]
chr8	GH08I103137	103136418	103137962	1.08	[{'connected_gene': 'KLF10', 'score': 4.5}, {'connected_gene': 'ATP6V1C1', 'score': 2.95}, {'connected_gene': 'AZIN1', 'score': 2.79}, {'connected_gene': 'SLC25A32', 'score': 1.32}, {'connected_gene': 'BAALC-AS2', 'score': 0.77}, {'connected_gene': 'BAALC', 'score': 0.77}, {'connected_gene': 'LINC01181', 'score': 0.37}]
chr8	GH08I103122	103122673	103122926	0.42	[{'connected_gene': 'LINC01181', 'score': 550.77}, {'connected_gene': 'BAALC', 'score': 2.06}]
chr8	GH08I103119	103119473	103120942	0.66	[{'connected_gene': 'LINC01181', 'score': 561.96}, {'connected_gene': 'BAALC-AS2', 'score': 11.42}, {'connected_gene': 'BAALC', 'score': 11.34}, {'connected_gene': 'FZD6', 'score': 4.46}, {'connected_gene': 'MTCO2P4', 'score': 0.31}]
chr8	GH08I103175	103175432	103176158	0.2	[{'connected_gene': 'BAALC-AS2', 'score': 12.5}, {'connected_gene': 'BAALC', 'score': 11.67}, {'connected_gene': 'LINC01181', 'score': 10.65}, {'connected_gene': 'FZD6', 'score': 10.47}, {'connected_gene': 'BAALC-AS1', 'score': 10.47}, {'connected_gene': 'MIR3151', 'score': 0.34}, {'connected_gene': 'PIR39342', 'score': 0.25}]
chr8	GH08I103210	103210553	103210702	0.62	[{'connected_gene': 'BAALC-AS2', 'score': 11.18}, {'connected_gene': 'BAALC', 'score': 11.18}, {'connected_gene': 'LINC01181', 'score': 10.17}, {'connected_gene': 'PIR39342', 'score': 0.39}, {'connected_gene': 'MIR3151', 'score': 0.22}, {'connected_gene': 'BAALC-AS1', 'score': 0.17}]
chr8	GH08I103140	103140600	103141201	1.79	[{'connected_gene': 'BAALC-AS2', 'score': 550.77}, {'connected_gene': 'BAALC', 'score': 550.77}]
chr8	GH08I103108	103108553	103109660	0.98	[{'connected_gene': 'BAALC-AS2', 'score': 11.36}, {'connected_gene': 'ATP6V1C1', 'score': 7.25}, {'connected_gene': 'KLF10', 'score': 3.34}, {'connected_gene': 'BAALC', 'score': 1.85}, {'connected_gene': 'LINC01181', 'score': 0.39}, {'connected_gene': 'MTCO2P4', 'score': 0.37}]
chr8	GH08I103183	103183244	103187809	1.37	[{'connected_gene': 'BAALC-AS2', 'score': 11.7}, {'connected_gene': 'ENSG00000253851', 'score': 10.82}, {'connected_gene': 'LINC01181', 'score': 10.48}, {'connected_gene': 'FZD6', 'score': 6.98}, {'connected_gene': 'DCAF13', 'score': 5.06}, {'connected_gene': 'ENSG00000266289', 'score': 4.68}, {'connected_gene': 'BAALC', 'score': 4.49}, {'connected_gene': 'AZIN1', 'score': 2.53}, {'connected_gene': 'MIR3151', 'score': 0.29}, {'connected_gene': 'PIR39342', 'score': 0.28}, {'connected_gene': 'BAALC-AS1', 'score': 0.14}]
chr8	GH08I103149	103149233	103149382	0.43	[{'connected_gene': 'BAALC-AS2', 'score': 0.44}, {'connected_gene': 'MIR3151', 'score': 0.44}, {'connected_gene': 'BAALC', 'score': 0.44}]
chr8	GH08I103254	103254993	103256862	1.18	[{'connected_gene': 'PIR51808', 'score': 550.77}, {'connected_gene': 'FZD6', 'score': 13.23}, {'connected_gene': 'ENSG00000253851', 'score': 11.04}, {'connected_gene': 'LINC01181', 'score': 9.96}, {'connected_gene': 'BAALC', 'score': 4.9}, {'connected_gene': 'LOC105369147', 'score': 0.26}, {'connected_gene': 'BAALC-AS1', 'score': 0.26}]
chr8	GH08I103132	103132033	103133389	0.92	[{'connected_gene': 'ENSG00000253851', 'score': 9.92}, {'connected_gene': 'BAALC', 'score': 6.06}, {'connected_gene': 'BAALC-AS2', 'score': 0.44}, {'connected_gene': 'LINC01181', 'score': 0.39}]
chr8	GH08I103207	103207378	103210549	1.02	[{'connected_gene': 'ENSG00000253851', 'score': 11.54}, {'connected_gene': 'BAALC-AS2', 'score': 11.18}, {'connected_gene': 'BAALC', 'score': 11.18}, {'connected_gene': 'LINC01181', 'score': 10.31}, {'connected_gene': 'FZD6', 'score': 10.21}, {'connected_gene': 'PIR39342', 'score': 0.39}, {'connected_gene': 'MIR3151', 'score': 0.23}, {'connected_gene': 'BAALC-AS1', 'score': 0.17}]
chr8	GH08I103229	103229813	103230062	0.69	[{'connected_gene': 'ENSG00000253851', 'score': 550.77}, {'connected_gene': 'PIR51808', 'score': 0.31}, {'connected_gene': 'LOC105369147', 'score': 0.2}, {'connected_gene': 'BAALC-AS1', 'score': 0.2}, {'connected_gene': 'BAALC', 'score': 0.17}]
chr8	GH08I103151	103151228	103153342	0.92	[{'connected_gene': 'ENSG00000266289', 'score': 4.66}, {'connected_gene': 'MIR3151', 'score': 0.77}, {'connected_gene': 'BAALC-AS2', 'score': 0.39}, {'connected_gene': 'BAALC', 'score': 0.39}]