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
ENST00000377540	[[40086897, 40087090], [40091469, 40091601], [40091851, 40092002], [40092725, 40092787], [40093014, 40093180], [40101389, 40101513], [40113399, 40113484], [40117010, 40117648]]	None
ENST00000591658	[[40086908, 40087090], [40091469, 40091601], [40091851, 40092002], [40092725, 40092787], [40093014, 40093180], [40094809, 40095034], [40095217, 40095425], [40101389, 40101476], [40107234, 40107335], [40113399, 40113484], [40117010, 40117363]]	None
ENST00000593239	[[40086887, 40087090], [40091469, 40091601], [40091723, 40091796], [40092725, 40092787], [40093014, 40093180], [40094809, 40094943]]	None
ENST00000585530	[[40091550, 40091601], [40091723, 40091796], [40092725, 40092787], [40093014, 40093294]]	None
NR_110662	[[40086875, 40087090], [40091469, 40091601], [40091851, 40092002], [40092725, 40092787], [40093014, 40093180], [40101389, 40101479], [40107234, 40107335], [40113399, 40113484], [40117010, 40117669]]	None
NM_031421	[[40086875, 40087090], [40091469, 40091601], [40091851, 40092002], [40092725, 40092787], [40093014, 40093180], [40094809, 40095034], [40095217, 40095425], [40101389, 40101477], [40107236, 40107335], [40113399, 40113484], [40117010, 40117669]]	[[40086976, 40087090], [40091469, 40091601], [40091851, 40092002], [40092725, 40092787], [40093014, 40093180], [40094809, 40095034], [40095217, 40095425], [40101389, 40101477], [40107236, 40107335], [40113399, 40113484], [40117010, 40117501]]

Promoter

Chrom	Start	End	Description
chr17	40086852	40086934	CAGE_peak_1_at_TTC25_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I041705	41705005	41706620	1.3	[{'connected_gene': 'HAP1', 'score': 16.73}, {'connected_gene': 'RN7SL399P', 'score': 11.99}, {'connected_gene': 'FKBP10', 'score': 10.93}, {'connected_gene': 'P3H4', 'score': 10.93}, {'connected_gene': 'KLHL10', 'score': 10.75}, {'connected_gene': 'NT5C3B', 'score': 10.74}, {'connected_gene': 'ENSG00000267765', 'score': 5.03}, {'connected_gene': 'ZNF385C', 'score': 3.98}, {'connected_gene': 'TTC25', 'score': 1.3}, {'connected_gene': 'GAST', 'score': 0.44}, {'connected_gene': 'GC17P041692', 'score': 0.39}, {'connected_gene': 'GC17P041691', 'score': 0.39}]
chr17	GH17I041938	41938054	41938497	1	[{'connected_gene': 'TTC25', 'score': 0.44}, {'connected_gene': 'GC17M041929', 'score': 0.44}, {'connected_gene': 'CNP', 'score': 0.31}]
chr17	GH17I042088	42088458	42088468	0.78	[{'connected_gene': 'DHX58', 'score': 12.14}, {'connected_gene': 'KCNH4', 'score': 10.41}, {'connected_gene': 'HCRT', 'score': 10.41}, {'connected_gene': 'KLHL10', 'score': 5.13}, {'connected_gene': 'HSPB9', 'score': 5.1}, {'connected_gene': 'CNP', 'score': 2.41}, {'connected_gene': 'TTC25', 'score': 1.53}, {'connected_gene': 'ZNF385C', 'score': 0.39}, {'connected_gene': 'C17orf113', 'score': 0.28}]
chr17	GH17I041781	41781194	41787975	2.29	[{'connected_gene': 'JUP', 'score': 635.76}, {'connected_gene': 'KLHL10', 'score': 15.78}, {'connected_gene': 'ACLY', 'score': 11.7}, {'connected_gene': 'ENSG00000267765', 'score': 11.24}, {'connected_gene': 'DHX58', 'score': 11.21}, {'connected_gene': 'KLHL11', 'score': 11.0}, {'connected_gene': 'ENSG00000267758', 'score': 10.59}, {'connected_gene': 'PLEKHH3', 'score': 10.15}, {'connected_gene': 'NT5C3B', 'score': 8.67}, {'connected_gene': 'TTC25', 'score': 6.37}, {'connected_gene': 'TUBG2', 'score': 4.5}, {'connected_gene': 'PIR32942', 'score': 0.77}, {'connected_gene': 'HAP1', 'score': 0.25}]
chr17	GH17I041798	41798764	41802238	1.65	[{'connected_gene': 'JUP', 'score': 39.38}, {'connected_gene': 'NT5C3B', 'score': 25.67}, {'connected_gene': 'ENSG00000267758', 'score': 16.39}, {'connected_gene': 'KLHL11', 'score': 11.68}, {'connected_gene': 'KLHL10', 'score': 11.12}, {'connected_gene': 'RETREG3', 'score': 10.69}, {'connected_gene': 'STAT5A', 'score': 10.1}, {'connected_gene': 'LOC108783654', 'score': 10.0}, {'connected_gene': 'CNP', 'score': 9.85}, {'connected_gene': 'TTC25', 'score': 4.51}, {'connected_gene': 'KRT19', 'score': 3.0}, {'connected_gene': 'KRT17', 'score': 2.85}, {'connected_gene': 'KRT15', 'score': 1.67}, {'connected_gene': 'KRT16', 'score': 1.58}, {'connected_gene': 'KRT14', 'score': 1.37}, {'connected_gene': 'PIR33798', 'score': 0.39}, {'connected_gene': 'PIR32942', 'score': 0.39}, {'connected_gene': 'P3H4', 'score': 0.39}]
chr17	GH17I041932	41932002	41933860	0.83	[{'connected_gene': 'NT5C3B', 'score': 33.97}, {'connected_gene': 'TTC25', 'score': 0.77}, {'connected_gene': 'GC17M041929', 'score': 0.77}, {'connected_gene': 'CNP', 'score': 0.29}]
chr17	GH17I041939	41939599	41940794	0.38	[{'connected_gene': 'NT5C3B', 'score': 61.3}, {'connected_gene': 'TTC25', 'score': 0.44}, {'connected_gene': 'GC17M041929', 'score': 0.44}, {'connected_gene': 'CNP', 'score': 0.31}]
chr17	GH17I041956	41956671	41958449	1.22	[{'connected_gene': 'NT5C3B', 'score': 16.08}, {'connected_gene': 'KLHL11', 'score': 10.95}, {'connected_gene': 'CNP', 'score': 0.44}, {'connected_gene': 'TTC25', 'score': 0.31}, {'connected_gene': 'GC17M041929', 'score': 0.31}]
chr17	GH17I041959	41959044	41960712	1.28	[{'connected_gene': 'NT5C3B', 'score': 21.13}, {'connected_gene': 'KLHL11', 'score': 10.72}, {'connected_gene': 'CNP', 'score': 0.44}, {'connected_gene': 'TTC25', 'score': 0.31}, {'connected_gene': 'GC17M041929', 'score': 0.31}]
chr17	GH17I041962	41962612	41963692	1.22	[{'connected_gene': 'NT5C3B', 'score': 60.0}, {'connected_gene': 'CNP', 'score': 0.77}, {'connected_gene': 'TTC25', 'score': 0.29}, {'connected_gene': 'GC17M041929', 'score': 0.29}]
chr17	GH17I041929	41929078	41931441	2.3	[{'connected_gene': 'GC17M041929', 'score': 550.77}, {'connected_gene': 'TTC25', 'score': 550.77}, {'connected_gene': 'ACLY', 'score': 550.77}, {'connected_gene': 'NT5C3B', 'score': 67.67}, {'connected_gene': 'PLEKHH3', 'score': 14.4}, {'connected_gene': 'HSD17B1', 'score': 12.07}, {'connected_gene': 'ENSG00000259623', 'score': 11.16}, {'connected_gene': 'HSD17B1P1', 'score': 11.02}, {'connected_gene': 'CNTNAP1', 'score': 10.9}, {'connected_gene': 'TUBG2', 'score': 10.06}, {'connected_gene': 'ENSG00000267765', 'score': 9.7}, {'connected_gene': 'GC17P041919', 'score': 0.39}]
chr17	GH17I041965	41965171	41968624	2.22	[{'connected_gene': 'GC17P041968', 'score': 550.77}, {'connected_gene': 'GC17P041973', 'score': 550.77}, {'connected_gene': 'PIR42788', 'score': 550.77}, {'connected_gene': 'CNP', 'score': 550.77}, {'connected_gene': 'NT5C3B', 'score': 59.04}, {'connected_gene': 'ENSG00000267758', 'score': 16.37}, {'connected_gene': 'NKIRAS2', 'score': 11.12}, {'connected_gene': 'DNAJC7', 'score': 11.09}, {'connected_gene': 'ZNF385C', 'score': 10.7}, {'connected_gene': 'DHX58', 'score': 10.61}, {'connected_gene': 'STAT5A', 'score': 10.47}, {'connected_gene': 'KLHL11', 'score': 10.3}, {'connected_gene': 'RAB5C', 'score': 10.27}, {'connected_gene': 'PSME3', 'score': 10.24}, {'connected_gene': 'VPS25', 'score': 10.15}, {'connected_gene': 'TTC25', 'score': 0.28}]
chr17	GH17I041674	41674903	41680514	1.74	[{'connected_gene': 'ENSG00000267758', 'score': 42.76}, {'connected_gene': 'RETREG3', 'score': 25.61}, {'connected_gene': 'NKIRAS2', 'score': 25.57}, {'connected_gene': 'DHX58', 'score': 19.89}, {'connected_gene': 'TTC25', 'score': 13.04}, {'connected_gene': 'STAT5A', 'score': 12.09}, {'connected_gene': 'ACLY', 'score': 11.66}, {'connected_gene': 'STAT3', 'score': 10.5}, {'connected_gene': 'CAVIN1', 'score': 10.21}, {'connected_gene': 'LOC108783654', 'score': 9.7}, {'connected_gene': 'EIF1', 'score': 6.32}, {'connected_gene': 'HAP1', 'score': 6.24}, {'connected_gene': 'RAB5C', 'score': 5.96}, {'connected_gene': 'KRT13', 'score': 5.44}, {'connected_gene': 'DNAJC7', 'score': 1.27}, {'connected_gene': 'GC17M041665', 'score': 0.39}]