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
ENST00000298130	[[34901994, 34904510], [34931301, 34931562]]	[[34904406, 34904510], [34931301, 34931413]]
NM_138288	[[34902143, 34904510], [34931301, 34931468]]	[[34904406, 34904510], [34931301, 34931413]]

Promoter

Chrom	Start	End	Description
chr14	34931435	34931455	CAGE_peak_1_at_SPTSSA_5end
chr14	34931458	34931479	CAGE_peak_2_at_SPTSSA_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I034495	34495743	34499200	1.23	[{'connected_gene': 'RPS19P3', 'score': 10.2}, {'connected_gene': 'SNX6', 'score': 7.69}, {'connected_gene': 'SPTSSA', 'score': 7.49}, {'connected_gene': 'KIAA0391', 'score': 4.46}, {'connected_gene': 'RPL23AP71', 'score': 0.39}, {'connected_gene': 'EAPP', 'score': 0.26}]
chr14	GH14I034372	34372283	34373864	0.83	[{'connected_gene': 'RPS19P3', 'score': 18.74}, {'connected_gene': 'EAPP', 'score': 13.47}, {'connected_gene': 'SPTSSA', 'score': 10.24}, {'connected_gene': 'LOC100421787', 'score': 0.26}, {'connected_gene': 'EGLN3', 'score': 0.17}, {'connected_gene': 'GC14M034245', 'score': 0.13}]
chr14	GH14I034578	34578936	34582164	0.31	[{'connected_gene': 'SNX6', 'score': 19.72}, {'connected_gene': 'RNU1-27P', 'score': 12.87}, {'connected_gene': 'EAPP', 'score': 12.84}, {'connected_gene': 'SPTSSA', 'score': 9.25}, {'connected_gene': 'RPS19P3', 'score': 0.39}]
chr14	GH14I034518	34518269	34518302	0.26	[{'connected_gene': 'EAPP', 'score': 14.46}, {'connected_gene': 'RNU1-27P', 'score': 11.86}, {'connected_gene': 'RNU1-28P', 'score': 11.84}, {'connected_gene': 'RPS19P3', 'score': 11.79}, {'connected_gene': 'SPTSSA', 'score': 11.36}, {'connected_gene': 'RPL23AP71', 'score': 0.29}]
chr14	GH14I034500	34500247	34500786	0.77	[{'connected_gene': 'SPTSSA', 'score': 7.93}, {'connected_gene': 'RPL23AP71', 'score': 0.39}, {'connected_gene': 'EAPP', 'score': 0.28}]
chr14	GH14I034505	34505364	34506671	0.72	[{'connected_gene': 'SPTSSA', 'score': 7.23}, {'connected_gene': 'SNX6', 'score': 4.89}, {'connected_gene': 'RPL23AP71', 'score': 0.34}, {'connected_gene': 'EAPP', 'score': 0.29}]
chr14	GH14I034425	34425535	34425684	0.71	[{'connected_gene': 'SPTSSA', 'score': 11.06}, {'connected_gene': 'PIR58118', 'score': 0.77}, {'connected_gene': 'EGLN3', 'score': 0.28}]
chr14	GH14I034436	34436244	34438013	0.97	[{'connected_gene': 'SPTSSA', 'score': 11.78}, {'connected_gene': 'PIR58118', 'score': 0.37}, {'connected_gene': 'EGLN3', 'score': 0.31}]
chr14	GH14I034423	34423595	34423744	0.43	[{'connected_gene': 'SPTSSA', 'score': 11.06}, {'connected_gene': 'PIR58118', 'score': 0.77}, {'connected_gene': 'EGLN3', 'score': 0.28}]
chr14	GH14I034426	34426784	34426875	0.2	[{'connected_gene': 'SPTSSA', 'score': 11.06}, {'connected_gene': 'PIR58118', 'score': 0.44}, {'connected_gene': 'EGLN3', 'score': 0.28}]
chr14	GH14I034379	34379062	34380494	0.69	[{'connected_gene': 'SPTSSA', 'score': 16.88}, {'connected_gene': 'LOC100421787', 'score': 0.28}, {'connected_gene': 'EGLN3', 'score': 0.18}, {'connected_gene': 'GC14M034245', 'score': 0.12}]
chr14	GH14I034380	34380595	34380744	0.56	[{'connected_gene': 'SPTSSA', 'score': 10.94}, {'connected_gene': 'LOC100421787', 'score': 0.28}, {'connected_gene': 'EGLN3', 'score': 0.18}, {'connected_gene': 'GC14M034245', 'score': 0.12}]
chr14	GH14I034365	34365435	34365564	0.54	[{'connected_gene': 'SPTSSA', 'score': 10.72}, {'connected_gene': 'LOC100421787', 'score': 0.23}, {'connected_gene': 'EGLN3', 'score': 0.15}, {'connected_gene': 'GC14M034245', 'score': 0.13}]
chr14	GH14I034374	34374454	34375970	0.71	[{'connected_gene': 'SPTSSA', 'score': 19.8}, {'connected_gene': 'LOC100421787', 'score': 0.26}, {'connected_gene': 'EGLN3', 'score': 0.17}, {'connected_gene': 'GC14M034245', 'score': 0.13}]
chr14	GH14I034367	34367512	34370522	1.32	[{'connected_gene': 'SPTSSA', 'score': 10.74}, {'connected_gene': 'LOC100421787', 'score': 0.25}, {'connected_gene': 'EGLN3', 'score': 0.16}, {'connected_gene': 'GC14M034245', 'score': 0.13}]
chr14	GH14I034331	34331489	34333100	1.43	[{'connected_gene': 'SPTSSA', 'score': 3.34}, {'connected_gene': 'LOC100421787', 'score': 0.17}, {'connected_gene': 'GC14M034245', 'score': 0.17}, {'connected_gene': 'EGLN3', 'score': 0.12}]
chr14	GH14I034460	34460674	34463282	1.54	[{'connected_gene': 'EGLN3', 'score': 550.77}, {'connected_gene': 'SPTSSA', 'score': 550.77}, {'connected_gene': 'PIR58118', 'score': 0.26}]
chr14	GH14I035330	35330774	35343106	1.79	[{'connected_gene': 'GC14P035335', 'score': 550.77}, {'connected_gene': 'PSMA6', 'score': 52.13}, {'connected_gene': 'NFKBIA', 'score': 32.66}, {'connected_gene': 'PPP2R3C', 'score': 20.48}, {'connected_gene': 'BAZ1A', 'score': 15.31}, {'connected_gene': 'FAM177A1', 'score': 10.74}, {'connected_gene': 'SPTSSA', 'score': 4.9}, {'connected_gene': 'KIAA0391', 'score': 4.89}, {'connected_gene': 'RALGAPA1', 'score': 3.97}, {'connected_gene': 'SRP54', 'score': 1.22}, {'connected_gene': 'ENSG00000258860', 'score': 0.31}]