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
ENST00000528185	[[144501351, 144501508], [144511679, 144512068]]	None
ENST00000333480	[[144510229, 144512576]]	[[144511514, 144512576]]
NM_201589	[[144510229, 144512602]]	[[144511514, 144512576]]

Promoter

Chrom	Start	End	Description
chr8	144512897	144512903	CAGE_peak_1_at_MAFA_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I143914	143914531	143959729	2.91	[{'connected_gene': 'PLEC', 'score': 593.47}, {'connected_gene': 'ZNF251', 'score': 28.19}, {'connected_gene': 'ZNF517', 'score': 24.0}, {'connected_gene': 'ZNF250', 'score': 23.66}, {'connected_gene': 'ZNF7', 'score': 23.43}, {'connected_gene': 'LOC105375803', 'score': 22.19}, {'connected_gene': 'ZNF623', 'score': 20.89}, {'connected_gene': 'CPSF1', 'score': 20.24}, {'connected_gene': 'VPS28', 'score': 19.54}, {'connected_gene': 'LRRC14', 'score': 15.8}, {'connected_gene': 'RPL8', 'score': 13.14}, {'connected_gene': 'EEF1D', 'score': 12.75}, {'connected_gene': 'GPAA1', 'score': 12.72}, {'connected_gene': 'ZNF696', 'score': 11.41}, {'connected_gene': 'ZNF34', 'score': 11.09}, {'connected_gene': 'ENSG00000255050', 'score': 10.64}, {'connected_gene': 'ENSG00000254533', 'score': 10.19}, {'connected_gene': 'CYHR1', 'score': 10.1}, {'connected_gene': 'WDR97', 'score': 6.9}, {'connected_gene': 'C8orf82', 'score': 6.65}, {'connected_gene': 'HSF1', 'score': 5.42}, {'connected_gene': 'ZC3H3', 'score': 5.21}, {'connected_gene': 'SLC39A4', 'score': 4.95}, {'connected_gene': 'ENSG00000253931', 'score': 4.86}, {'connected_gene': 'ENSG00000254973', 'score': 4.84}, {'connected_gene': 'MAFA', 'score': 4.76}, {'connected_gene': 'SPATC1', 'score': 4.66}, {'connected_gene': 'TOP1MT', 'score': 4.46}, {'connected_gene': 'TONSL', 'score': 4.22}, {'connected_gene': 'GRINA', 'score': 4.08}, {'connected_gene': 'EPPK1', 'score': 2.6}, {'connected_gene': 'PARP10', 'score': 1.88}, {'connected_gene': 'FAM83H', 'score': 1.77}, {'connected_gene': 'GSDMD', 'score': 1.45}, {'connected_gene': 'NAPRT', 'score': 1.25}, {'connected_gene': 'MIR661', 'score': 0.44}, {'connected_gene': 'GC08P143945', 'score': 0.44}, {'connected_gene': 'GC08M143946', 'score': 0.44}, {'connected_gene': 'GC08M143943', 'score': 0.44}, {'connected_gene': 'GC08P143922', 'score': 0.39}, {'connected_gene': 'PIR31533', 'score': 0.37}, {'connected_gene': 'PIR52203', 'score': 0.37}, {'connected_gene': 'PIR42402', 'score': 0.37}, {'connected_gene': 'GC08M143922', 'score': 0.37}]
chr8	GH08I143428	143427961	143429826	0.84	[{'connected_gene': 'MAFA', 'score': 558.1}, {'connected_gene': 'JRK', 'score': 12.32}, {'connected_gene': 'ZNF696', 'score': 11.5}, {'connected_gene': 'ZNF623', 'score': 10.77}, {'connected_gene': 'CPSF1', 'score': 9.92}, {'connected_gene': 'VPS28', 'score': 9.67}, {'connected_gene': 'TOP1MT', 'score': 8.41}, {'connected_gene': 'MROH6', 'score': 6.22}, {'connected_gene': 'ENSG00000254859', 'score': 6.1}, {'connected_gene': 'MAFA-AS1', 'score': 0.39}]
chr8	GH08I143430	143430291	143431872	2.18	[{'connected_gene': 'MAFA', 'score': 558.24}, {'connected_gene': 'LOC105375798', 'score': 7.5}, {'connected_gene': 'GSDMD', 'score': 6.21}, {'connected_gene': 'ZNF696', 'score': 5.31}, {'connected_gene': 'GRINA', 'score': 5.14}, {'connected_gene': 'PIR44330', 'score': 0.39}]
chr8	GH08I143427	143427231	143427380	0.77	[{'connected_gene': 'MAFA', 'score': 7.41}, {'connected_gene': 'MAFA-AS1', 'score': 0.44}]
chr8	GH08I143422	143422911	143422960	0.46	[{'connected_gene': 'MAFA', 'score': 0.44}, {'connected_gene': 'MAFA-AS1', 'score': 0.44}]
chr8	GH08I143423	143422971	143423060	0.49	[{'connected_gene': 'MAFA', 'score': 5.09}, {'connected_gene': 'MAFA-AS1', 'score': 0.44}]
chr8	GH08I143426	143426971	143427120	0.77	[{'connected_gene': 'MAFA', 'score': 0.77}, {'connected_gene': 'MAFA-AS1', 'score': 0.44}]
chr8	GH08I143217	143217985	143221761	1.49	[{'connected_gene': 'GPIHBP1', 'score': 14.54}, {'connected_gene': 'TOP1MT', 'score': 5.12}, {'connected_gene': 'LY6H', 'score': 2.15}, {'connected_gene': 'MAFA', 'score': 1.48}, {'connected_gene': 'GC08P143216', 'score': 0.77}, {'connected_gene': 'ZFP41', 'score': 0.31}]
chr8	GH08I143021	143021552	143028619	1.64	[{'connected_gene': 'LY6E-DT', 'score': 24.56}, {'connected_gene': 'MAFA', 'score': 1.29}, {'connected_gene': 'PIR51584', 'score': 0.77}, {'connected_gene': 'LY6E', 'score': 0.44}, {'connected_gene': 'GC08P143031', 'score': 0.44}]
chr8	GH08I143439	143439319	143439533	0.4	[{'connected_gene': 'PIR44330', 'score': 550.77}, {'connected_gene': 'MAFA', 'score': 0.44}, {'connected_gene': 'ZC3H3', 'score': 0.15}]
chr8	GH08I143434	143434222	143436689	0.8	[{'connected_gene': 'ENSG00000254859', 'score': 7.79}, {'connected_gene': 'MAFA-AS1', 'score': 6.47}, {'connected_gene': 'GSDMD', 'score': 5.45}, {'connected_gene': 'MINCR', 'score': 5.16}, {'connected_gene': 'BOP1', 'score': 4.86}, {'connected_gene': 'PLEC', 'score': 4.42}, {'connected_gene': 'PIR44330', 'score': 0.44}, {'connected_gene': 'MAFA', 'score': 0.44}]
chr8	GH08I143383	143382911	143387198	1.18	[{'connected_gene': 'ENSG00000253931', 'score': 13.14}, {'connected_gene': 'MAFA-AS1', 'score': 13.12}, {'connected_gene': 'MINCR', 'score': 13.09}, {'connected_gene': 'TOP1MT', 'score': 12.83}, {'connected_gene': 'RHPN1', 'score': 12.41}, {'connected_gene': 'MROH6', 'score': 5.03}, {'connected_gene': 'MAFA', 'score': 5.02}, {'connected_gene': 'OPLAH', 'score': 4.68}, {'connected_gene': 'GC08M143377', 'score': 0.77}]