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
ENST00000361529	[[100789673, 100789779], [100792124, 100792168], [100792493, 100792565], [100793524, 100793707], [100795062, 100795381], [100795701, 100796715]]	[[100789751, 100789779], [100792124, 100792168], [100792493, 100792565], [100793524, 100793707], [100795062, 100795381], [100795701, 100795982]]
ENST00000557052	[[100789678, 100789779], [100792124, 100792168], [100792432, 100792565], [100793524, 100793707], [100795062, 100795381], [100795701, 100796473]]	[[100795173, 100795381], [100795701, 100795982]]
NM_207117	[[100789678, 100789779], [100792124, 100792168], [100792493, 100792565], [100793524, 100793707], [100795062, 100795381], [100795701, 100796715]]	[[100789751, 100789779], [100792124, 100792168], [100792493, 100792565], [100793524, 100793707], [100795062, 100795381], [100795701, 100795982]]

Promoter

Chrom	Start	End	Description
chr14	100789669	100789685	CAGE_peak_1_at_SLC25A47_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I100402	100402800	100403000	0.63	[{'connected_gene': 'WDR25', 'score': 26.4}, {'connected_gene': 'WARS', 'score': 23.05}, {'connected_gene': 'SLC25A47', 'score': 9.93}, {'connected_gene': 'GC14P100409', 'score': 0.77}]
chr14	GH14I100284	100284037	100286517	1.69	[{'connected_gene': 'WARS', 'score': 16.7}, {'connected_gene': 'CCNK', 'score': 12.55}, {'connected_gene': 'WDR25', 'score': 11.61}, {'connected_gene': 'SLC25A47', 'score': 11.19}, {'connected_gene': 'PIR46113', 'score': 0.77}, {'connected_gene': 'GC14P100279', 'score': 0.44}, {'connected_gene': 'ENSG00000259052', 'score': 0.44}, {'connected_gene': 'SLC25A29', 'score': 0.34}]
chr14	GH14I100424	100424585	100426009	1	[{'connected_gene': 'WARS', 'score': 10.38}, {'connected_gene': 'WDR25', 'score': 10.38}, {'connected_gene': 'BEGAIN', 'score': 10.37}, {'connected_gene': 'SLC25A47', 'score': 9.75}, {'connected_gene': 'LOC105370664', 'score': 0.37}, {'connected_gene': 'HMGN1P25', 'score': 0.22}]
chr14	GH14I100383	100383601	100394790	1.31	[{'connected_gene': 'WARS', 'score': 17.18}, {'connected_gene': 'WDR25', 'score': 16.32}, {'connected_gene': 'SLC25A47', 'score': 10.76}, {'connected_gene': 'BEGAIN', 'score': 10.22}, {'connected_gene': 'MIR493', 'score': 9.51}, {'connected_gene': 'MIR337', 'score': 9.51}, {'connected_gene': 'MIR136', 'score': 9.51}, {'connected_gene': 'RTL1', 'score': 9.51}, {'connected_gene': 'MIR431', 'score': 9.5}, {'connected_gene': 'MIR433', 'score': 9.5}, {'connected_gene': 'MIR127', 'score': 9.5}, {'connected_gene': 'GC14P100409', 'score': 0.37}]
chr14	GH14I100423	100423501	100423890	1.01	[{'connected_gene': 'WARS', 'score': 10.36}, {'connected_gene': 'WDR25', 'score': 10.36}, {'connected_gene': 'SLC25A47', 'score': 9.75}, {'connected_gene': 'BEGAIN', 'score': 1.58}, {'connected_gene': 'LOC105370664', 'score': 0.37}, {'connected_gene': 'HMGN1P25', 'score': 0.22}]
chr14	GH14I100397	100397514	100399403	1.18	[{'connected_gene': 'WARS', 'score': 16.45}, {'connected_gene': 'WDR25', 'score': 11.36}, {'connected_gene': 'SLC25A47', 'score': 10.35}, {'connected_gene': 'GC14P100409', 'score': 0.44}]
chr14	GH14I100328	100328420	100329368	0.83	[{'connected_gene': 'WARS', 'score': 26.4}, {'connected_gene': 'WDR25', 'score': 23.05}, {'connected_gene': 'ENSG00000258666', 'score': 0.77}, {'connected_gene': 'SLC25A47', 'score': 0.44}, {'connected_gene': 'GC14M100323', 'score': 0.31}]
chr14	GH14I100400	100400001	100400800	0.6	[{'connected_gene': 'WARS', 'score': 11.5}, {'connected_gene': 'WDR25', 'score': 11.5}, {'connected_gene': 'SLC25A47', 'score': 10.35}, {'connected_gene': 'GC14P100409', 'score': 0.44}]
chr14	GH14I100628	100628072	100631326	0.2	[{'connected_gene': 'BEGAIN', 'score': 12.43}, {'connected_gene': 'WARS', 'score': 10.32}, {'connected_gene': 'WDR25', 'score': 10.32}, {'connected_gene': 'DLK1', 'score': 9.81}, {'connected_gene': 'SLC25A47', 'score': 9.68}, {'connected_gene': 'PIR56329', 'score': 0.34}, {'connected_gene': 'ENSG00000258576', 'score': 0.26}]
chr14	GH14I100645	100645066	100646453	1.27	[{'connected_gene': 'BEGAIN', 'score': 11.16}, {'connected_gene': 'WARS', 'score': 10.84}, {'connected_gene': 'WDR25', 'score': 10.84}, {'connected_gene': 'SLC25A47', 'score': 9.52}, {'connected_gene': 'PIR56329', 'score': 0.44}, {'connected_gene': 'ENSG00000258576', 'score': 0.22}]
chr14	GH14I100632	100632500	100636702	0.52	[{'connected_gene': 'BEGAIN', 'score': 12.01}, {'connected_gene': 'MEG3', 'score': 10.01}, {'connected_gene': 'SLC25A47', 'score': 9.68}, {'connected_gene': 'PIR56329', 'score': 0.37}, {'connected_gene': 'ENSG00000258576', 'score': 0.25}]
chr14	GH14I100294	100294124	100294453	0.76	[{'connected_gene': 'SLC25A47', 'score': 11.65}, {'connected_gene': 'WARS', 'score': 11.15}, {'connected_gene': 'WDR25', 'score': 11.15}, {'connected_gene': 'ENSG00000258504', 'score': 0.77}, {'connected_gene': 'ENSG00000259052', 'score': 0.77}, {'connected_gene': 'SLC25A29', 'score': 0.39}]
chr14	GH14I100396	100396356	100396939	0.38	[{'connected_gene': 'SLC25A47', 'score': 10.5}, {'connected_gene': 'MIR337', 'score': 9.51}, {'connected_gene': 'MIR493', 'score': 9.51}, {'connected_gene': 'MIR433', 'score': 9.51}, {'connected_gene': 'MIR136', 'score': 9.51}, {'connected_gene': 'RTL1', 'score': 9.51}, {'connected_gene': 'MIR127', 'score': 9.51}, {'connected_gene': 'MIR431', 'score': 9.51}, {'connected_gene': 'GC14P100409', 'score': 0.44}, {'connected_gene': 'WARS', 'score': 0.37}, {'connected_gene': 'WDR25', 'score': 0.34}]
chr14	GH14I100323	100323290	100323349	1.06	[{'connected_gene': 'SLC25A47', 'score': 550.77}, {'connected_gene': 'RN7SL523P', 'score': 0.77}, {'connected_gene': 'GC14M100323', 'score': 0.29}]
chr14	GH14I100325	100325264	100325413	0.74	[{'connected_gene': 'SLC25A47', 'score': 0.77}, {'connected_gene': 'ENSG00000258666', 'score': 0.44}, {'connected_gene': 'GC14M100323', 'score': 0.29}]
chr14	GH14I100231	100231953	100232920	0.58	[{'connected_gene': 'DEGS2', 'score': 10.31}, {'connected_gene': 'MIR342', 'score': 9.73}, {'connected_gene': 'SLC25A47', 'score': 9.4}, {'connected_gene': 'ENSG00000258982', 'score': 0.44}, {'connected_gene': 'YY1', 'score': 0.44}, {'connected_gene': 'GC14M100190', 'score': 0.28}]
chr14	GH14I100234	100234194	100235563	0.38	[{'connected_gene': 'DEGS2', 'score': 10.31}, {'connected_gene': 'MIR342', 'score': 9.73}, {'connected_gene': 'SLC25A47', 'score': 9.4}, {'connected_gene': 'SLC25A29', 'score': 8.08}, {'connected_gene': 'ENSG00000258982', 'score': 0.77}, {'connected_gene': 'YY1', 'score': 0.77}, {'connected_gene': 'GC14M100190', 'score': 0.26}]
chr14	GH14I100266	100266070	100269012	0.46	[{'connected_gene': 'SLC25A29', 'score': 18.83}, {'connected_gene': 'YY1', 'score': 11.56}, {'connected_gene': 'MIR345', 'score': 11.01}, {'connected_gene': 'SLC25A47', 'score': 10.75}, {'connected_gene': 'WARS', 'score': 10.65}, {'connected_gene': 'WDR25', 'score': 10.65}, {'connected_gene': 'DEGS2', 'score': 9.61}, {'connected_gene': 'MIR342', 'score': 9.34}, {'connected_gene': 'ENSG00000258904', 'score': 0.77}, {'connected_gene': 'GC14P100275', 'score': 0.44}]
chr14	GH14I100281	100281267	100282125	0.31	[{'connected_gene': 'SLC25A29', 'score': 12.19}, {'connected_gene': 'MIR345', 'score': 12.16}, {'connected_gene': 'WDR25', 'score': 10.86}, {'connected_gene': 'WARS', 'score': 10.86}, {'connected_gene': 'SLC25A47', 'score': 10.41}, {'connected_gene': 'MIR342', 'score': 9.6}, {'connected_gene': 'GC14P100279', 'score': 0.77}, {'connected_gene': 'ENSG00000259052', 'score': 0.44}, {'connected_gene': 'PIR46113', 'score': 0.44}, {'connected_gene': 'YY1', 'score': 0.26}]
chr14	GH14I100297	100295296	100295472	0.4	[{'connected_gene': 'SLC25A29', 'score': 19.28}, {'connected_gene': 'SLC25A47', 'score': 11.65}, {'connected_gene': 'WARS', 'score': 11.15}, {'connected_gene': 'WDR25', 'score': 11.15}, {'connected_gene': 'ENSG00000259052', 'score': 0.77}]
chr14	GH14I100405	100405471	100411311	1.72	[{'connected_gene': 'LOC105370664', 'score': 550.77}, {'connected_gene': 'WDR25', 'score': 35.22}, {'connected_gene': 'WARS', 'score': 28.44}, {'connected_gene': 'SLC25A47', 'score': 9.94}, {'connected_gene': 'GC14P100409', 'score': 0.77}, {'connected_gene': 'HMGN1P25', 'score': 0.19}]
chr14	GH14I100273	100273479	100277337	0.46	[{'connected_gene': 'MIR6764', 'score': 550.77}, {'connected_gene': 'GC14P100275', 'score': 550.77}, {'connected_gene': 'SLC25A29', 'score': 20.23}, {'connected_gene': 'MIR345', 'score': 12.14}, {'connected_gene': 'YY1', 'score': 11.34}, {'connected_gene': 'WARS', 'score': 10.85}, {'connected_gene': 'WDR25', 'score': 10.85}, {'connected_gene': 'SLC25A47', 'score': 10.71}, {'connected_gene': 'DEGS2', 'score': 9.61}, {'connected_gene': 'MIR342', 'score': 9.61}, {'connected_gene': 'ENSG00000258904', 'score': 0.39}]
chr14	GH14I100332	100332147	100333073	0.57	[{'connected_gene': 'ENSG00000258666', 'score': 550.77}, {'connected_gene': 'WARS', 'score': 19.83}, {'connected_gene': 'SLC25A47', 'score': 0.44}, {'connected_gene': 'GC14M100323', 'score': 0.34}]
chr14	GH14I100290	100290330	100291622	1.02	[{'connected_gene': 'ENSG00000258504', 'score': 550.77}, {'connected_gene': 'ENSG00000259052', 'score': 550.77}, {'connected_gene': 'SLC25A47', 'score': 11.63}, {'connected_gene': 'WARS', 'score': 11.14}, {'connected_gene': 'WDR25', 'score': 11.14}, {'connected_gene': 'PIR46113', 'score': 0.77}, {'connected_gene': 'SLC25A29', 'score': 0.37}]
chr14	GH14I100279	100278645	100279533	0.79	[{'connected_gene': 'GC14P100279', 'score': 550.77}, {'connected_gene': 'MIR6764', 'score': 550.77}, {'connected_gene': 'MIR345', 'score': 12.16}, {'connected_gene': 'SLC25A29', 'score': 12.16}, {'connected_gene': 'WARS', 'score': 10.86}, {'connected_gene': 'WDR25', 'score': 10.86}, {'connected_gene': 'SLC25A47', 'score': 10.41}, {'connected_gene': 'MIR342', 'score': 9.61}, {'connected_gene': 'GC14P100275', 'score': 0.77}, {'connected_gene': 'YY1', 'score': 0.26}]
chr14	GH14I100278	100278041	100278310	0.6	[{'connected_gene': 'GC14P100279', 'score': 550.77}, {'connected_gene': 'MIR6764', 'score': 550.77}, {'connected_gene': 'MIR345', 'score': 12.16}, {'connected_gene': 'SLC25A29', 'score': 12.16}, {'connected_gene': 'WARS', 'score': 10.86}, {'connected_gene': 'WDR25', 'score': 10.86}, {'connected_gene': 'SLC25A47', 'score': 10.39}, {'connected_gene': 'MIR342', 'score': 9.61}, {'connected_gene': 'GC14P100275', 'score': 0.77}, {'connected_gene': 'YY1', 'score': 0.28}]