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
ENST00000266735	[[96252705, 96252854], [96254945, 96255071], [96259101, 96259166], [96259782, 96260831]]	[[96252851, 96252854], [96254945, 96255071], [96259101, 96259166], [96259782, 96259849]]
ENST00000551316	[[96252741, 96252854], [96254945, 96255619]]	None
ENST00000553192	[[96252742, 96252854], [96254945, 96255071], [96273465, 96273779]]	[[96252851, 96252854], [96254945, 96255071], [96273465, 96273540]]
ENST00000552085	[[96252746, 96252854], [96254945, 96255071], [96273465, 96273499], [96282836, 96282959], [96297182, 96297606]]	[[96252851, 96252854], [96254945, 96255071], [96273465, 96273499], [96282836, 96282959], [96297182, 96297280]]
ENST00000549580	[[96258856, 96259166], [96259782, 96260229]]	None
NM_003095	[[96252708, 96252854], [96254945, 96255071], [96259101, 96259166], [96259782, 96260238]]	[[96252851, 96252854], [96254945, 96255071], [96259101, 96259166], [96259782, 96259849]]

Promoter

Chrom	Start	End	Description
chr12	96252710	96252789	CAGE_peak_1_at_SNRPF_5end
chr12	96255011	96255034	CAGE_peak_2_at_SNRPF_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I095446	95446185	95447270	1.03	[{'connected_gene': 'USP44', 'score': 6.11}, {'connected_gene': 'SNRPF', 'score': 4.44}, {'connected_gene': 'METAP2', 'score': 2.37}, {'connected_gene': 'LOC105369917', 'score': 0.77}, {'connected_gene': 'GC12M095468', 'score': 0.34}]
chr12	GH12I095652	95652519	95654945	1.59	[{'connected_gene': 'NR2C1', 'score': 61.55}, {'connected_gene': 'ELK3', 'score': 40.26}, {'connected_gene': 'METAP2', 'score': 31.25}, {'connected_gene': 'SNRPF', 'score': 30.34}, {'connected_gene': 'LTA4H', 'score': 19.44}, {'connected_gene': 'NTN4', 'score': 11.54}, {'connected_gene': 'USP44', 'score': 10.66}, {'connected_gene': 'RPL29P26', 'score': 10.06}, {'connected_gene': 'VEZT', 'score': 10.06}, {'connected_gene': 'ENSG00000212448', 'score': 0.28}, {'connected_gene': 'GC12M095719', 'score': 0.2}, {'connected_gene': 'PGAM1P5', 'score': 0.15}]
chr12	GH12I095829	95829643	95829692	0.67	[{'connected_gene': 'SNRPF', 'score': 11.25}, {'connected_gene': 'GC12P095807', 'score': 0.34}, {'connected_gene': 'GC12M095850', 'score': 0.34}, {'connected_gene': 'LOC105369921', 'score': 0.31}]
chr12	GH12I095610	95610985	95612796	1.04	[{'connected_gene': 'SNRPF', 'score': 9.88}, {'connected_gene': 'ENSG00000212448', 'score': 0.44}, {'connected_gene': 'PGAM1P5', 'score': 0.21}]
chr12	GH12I095788	95788392	95791979	2.1	[{'connected_gene': 'NTN4', 'score': 550.77}, {'connected_gene': 'SNRPF', 'score': 8.33}, {'connected_gene': 'LOC105369921', 'score': 5.18}, {'connected_gene': 'GC12M095785', 'score': 0.77}]
chr12	GH12I095761	95761683	95767259	1.34	[{'connected_gene': 'NTN4', 'score': 11.92}, {'connected_gene': 'RNU6-247P', 'score': 11.92}, {'connected_gene': 'LOC105369921', 'score': 9.26}, {'connected_gene': 'SNRPF', 'score': 7.15}, {'connected_gene': 'LOC102723340', 'score': 4.83}, {'connected_gene': 'GC12M095785', 'score': 0.34}, {'connected_gene': 'LOC105369919', 'score': 0.28}]
chr12	GH12I095147	95147849	95148428	0.49	[{'connected_gene': 'NDUFA12', 'score': 6.72}, {'connected_gene': 'SNRPF', 'score': 4.28}, {'connected_gene': 'RPL14P4', 'score': 0.34}, {'connected_gene': 'GC12P095210', 'score': 0.21}, {'connected_gene': 'FGD6', 'score': 0.2}]
chr12	GH12I094982	94982612	94985369	0.66	[{'connected_gene': 'NDUFA12', 'score': 19.55}, {'connected_gene': 'FGD6', 'score': 14.41}, {'connected_gene': 'SNRPF', 'score': 4.56}, {'connected_gene': 'GC12M094957', 'score': 0.44}, {'connected_gene': 'GC12M095002', 'score': 0.39}, {'connected_gene': 'GC12M095001', 'score': 0.39}, {'connected_gene': 'PIR32865', 'score': 0.39}, {'connected_gene': 'GC12M095000', 'score': 0.39}]
chr12	GH12I095986	95986943	95987092	0.31	[{'connected_gene': 'HAL', 'score': 10.74}, {'connected_gene': 'LTA4H', 'score': 10.32}, {'connected_gene': 'SNRPF', 'score': 9.76}, {'connected_gene': 'GC12M095983', 'score': 0.77}]
chr12	GH12I096486	96486843	96490434	1.72	[{'connected_gene': 'CFAP54', 'score': 550.77}, {'connected_gene': 'USP44', 'score': 13.98}, {'connected_gene': 'CDK17', 'score': 11.39}, {'connected_gene': 'ELK3', 'score': 10.91}, {'connected_gene': 'SNRPF', 'score': 10.58}, {'connected_gene': 'LTA4H', 'score': 9.84}, {'connected_gene': 'ENSG00000258272', 'score': 0.77}, {'connected_gene': 'GC12M096423', 'score': 0.13}]
chr12	GH12I095941	95941989	95944343	2.03	[{'connected_gene': 'AMDHD1', 'score': 593.99}, {'connected_gene': 'CCDC38', 'score': 550.77}, {'connected_gene': 'NR2C1', 'score': 66.92}, {'connected_gene': 'USP44', 'score': 22.56}, {'connected_gene': 'ELK3', 'score': 21.23}, {'connected_gene': 'METAP2', 'score': 20.69}, {'connected_gene': 'SNRPF', 'score': 10.73}, {'connected_gene': 'VEZT', 'score': 10.15}, {'connected_gene': 'LTA4H', 'score': 9.94}, {'connected_gene': 'HAL', 'score': 6.23}, {'connected_gene': 'GC12P095914', 'score': 0.31}]
chr12	GH12I096419	96419566	96432192	1.67	[{'connected_gene': 'RN7SKP11', 'score': 550.77}, {'connected_gene': 'USP44', 'score': 31.77}, {'connected_gene': 'ELK3', 'score': 31.75}, {'connected_gene': 'METAP2', 'score': 30.19}, {'connected_gene': 'CDK17', 'score': 11.68}, {'connected_gene': 'CFAP54', 'score': 11.06}, {'connected_gene': 'SNRPF', 'score': 10.58}, {'connected_gene': 'LTA4H', 'score': 9.85}, {'connected_gene': 'GC12P096416', 'score': 0.44}, {'connected_gene': 'ENSG00000258272', 'score': 0.22}, {'connected_gene': 'GC12M096423', 'score': 0.09}]
chr12	GH12I095858	95858200	95860488	2.04	[{'connected_gene': 'LOC105369921', 'score': 594.29}, {'connected_gene': 'PIR48032', 'score': 550.77}, {'connected_gene': 'SNRPF', 'score': 550.77}, {'connected_gene': 'CCDC38', 'score': 10.31}, {'connected_gene': 'AMDHD1', 'score': 10.31}]
chr12	GH12I095857	95857283	95857432	0.2	[{'connected_gene': 'LOC105369921', 'score': 550.77}, {'connected_gene': 'SNRPF', 'score': 550.77}, {'connected_gene': 'GC12M095850', 'score': 0.77}]
chr12	GH12I095835	95835783	95838588	1.04	[{'connected_gene': 'LOC105369921', 'score': 48.22}, {'connected_gene': 'ELK3', 'score': 21.21}, {'connected_gene': 'NR2C1', 'score': 13.81}, {'connected_gene': 'RNU6-247P', 'score': 10.8}, {'connected_gene': 'NTN4', 'score': 10.78}, {'connected_gene': 'LTA4H', 'score': 9.87}, {'connected_gene': 'SNRPF', 'score': 6.59}, {'connected_gene': 'CFAP54', 'score': 5.58}, {'connected_gene': 'CCDC38', 'score': 5.56}, {'connected_gene': 'GC12M095850', 'score': 0.37}, {'connected_gene': 'GC12P095807', 'score': 0.29}]
chr12	GH12I095783	95783465	95786952	0.2	[{'connected_gene': 'LOC105369921', 'score': 12.35}, {'connected_gene': 'LOC102723340', 'score': 5.93}, {'connected_gene': 'SNRPF', 'score': 5.14}, {'connected_gene': 'GC12M095785', 'score': 0.77}, {'connected_gene': 'NTN4', 'score': 0.44}, {'connected_gene': 'LOC105369919', 'score': 0.21}]
chr12	GH12I095801	95801860	95804499	1.29	[{'connected_gene': 'LINC02410', 'score': 550.77}, {'connected_gene': 'GC12M095799', 'score': 550.77}, {'connected_gene': 'LOC105369921', 'score': 13.38}, {'connected_gene': 'SNRPF', 'score': 6.44}, {'connected_gene': 'GC12P095807', 'score': 0.77}]
chr12	GH12I095885	95885103	95885252	0.57	[{'connected_gene': 'GC12M095887', 'score': 0.77}, {'connected_gene': 'GC12M095870', 'score': 0.39}, {'connected_gene': 'SNRPF', 'score': 0.31}, {'connected_gene': 'CCDC38', 'score': 0.22}]
chr12	GH12I095874	95874543	95874692	0.38	[{'connected_gene': 'GC12M095870', 'score': 0.77}, {'connected_gene': 'GC12M095887', 'score': 0.39}, {'connected_gene': 'SNRPF', 'score': 0.37}, {'connected_gene': 'CCDC38', 'score': 0.2}]
chr12	GH12I096044	96044002	96049400	1.53	[{'connected_gene': 'GC12P096047', 'score': 550.77}, {'connected_gene': 'LTA4H', 'score': 20.35}, {'connected_gene': 'HAL', 'score': 10.5}, {'connected_gene': 'ELK3', 'score': 6.34}, {'connected_gene': 'SNRPF', 'score': 5.31}, {'connected_gene': 'AMDHD1', 'score': 4.77}]
chr12	GH12I095804	95804848	95807549	1.2	[{'connected_gene': 'GC12P095807', 'score': 550.77}, {'connected_gene': 'LOC105369921', 'score': 13.4}, {'connected_gene': 'SNRPF', 'score': 6.45}, {'connected_gene': 'CCDC38', 'score': 6.05}, {'connected_gene': 'LINC02410', 'score': 0.77}, {'connected_gene': 'GC12M095850', 'score': 0.25}]