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
ENST00000226230	[[26646120, 26646391], [26652528, 26652673], [26653559, 26655707]]	[[26646265, 26646391], [26652528, 26652673], [26653559, 26653819]]
ENST00000583381	[[26646227, 26646285], [26646358, 26646391], [26652528, 26652673], [26653559, 26653901]]	[[26653609, 26653819]]
ENST00000582113	[[26646231, 26646391], [26652528, 26652861]]	[[26646265, 26646391], [26652528, 26652681]]
ENST00000582384	[[26646294, 26646391], [26653559, 26654537]]	[[26646294, 26646391], [26653559, 26653819]]
ENST00000336687	[[26646480, 26646723], [26651715, 26651750], [26652528, 26652673], [26653559, 26655251]]	[[26653609, 26653819]]
NM_014573	[[26646120, 26646391], [26652528, 26652673], [26653559, 26655711]]	[[26646265, 26646391], [26652528, 26652673], [26653559, 26653819]]

Promoter

Chrom	Start	End	Description
chr17	26646122	26646133	CAGE_peak_2_at_TMEM97_5end
chr17	26646150	26646153	CAGE_peak_4_at_TMEM97_5end
chr17	26646161	26646168	CAGE_peak_3_at_TMEM97_5end
chr17	26646175	26646241	CAGE_peak_1_at_TMEM97_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I028500	28500953	28501306	0.95	[{'connected_gene': 'UNC119', 'score': 12.67}, {'connected_gene': 'PIGS', 'score': 11.5}, {'connected_gene': 'SPAG5-AS1', 'score': 11.01}, {'connected_gene': 'SGK494', 'score': 11.0}, {'connected_gene': 'SLC46A1', 'score': 10.71}, {'connected_gene': 'KIAA0100', 'score': 9.8}, {'connected_gene': 'FOXN1', 'score': 5.36}, {'connected_gene': 'SPAG5', 'score': 2.44}, {'connected_gene': 'SEBOX', 'score': 1.8}, {'connected_gene': 'TMEM97', 'score': 1.58}, {'connected_gene': 'RPL23A', 'score': 1.26}, {'connected_gene': 'SLC13A2', 'score': 0.31}, {'connected_gene': 'ENSG00000258472', 'score': 0.14}]
chr17	GH17I028480	28480161	28481749	0.51	[{'connected_gene': 'FOXN1', 'score': 17.55}, {'connected_gene': 'SLC46A1', 'score': 11.27}, {'connected_gene': 'UNC119', 'score': 10.78}, {'connected_gene': 'PIGS', 'score': 10.75}, {'connected_gene': 'TMEM97', 'score': 4.36}, {'connected_gene': 'SLC13A2', 'score': 0.44}, {'connected_gene': 'ENSG00000258472', 'score': 0.12}]
chr17	GH17I028333	28333915	28339817	2.29	[{'connected_gene': 'TNFAIP1', 'score': 550.77}, {'connected_gene': 'IFT20', 'score': 550.77}, {'connected_gene': 'SUPT6H', 'score': 26.21}, {'connected_gene': 'ENSG00000264577', 'score': 24.74}, {'connected_gene': 'NUFIP2', 'score': 24.02}, {'connected_gene': 'ITM2BP1', 'score': 20.74}, {'connected_gene': 'RPL23A', 'score': 12.34}, {'connected_gene': 'TMEM97', 'score': 12.33}, {'connected_gene': 'NEK8', 'score': 12.23}, {'connected_gene': 'POLDIP2', 'score': 12.21}, {'connected_gene': 'TMEM199', 'score': 12.02}, {'connected_gene': 'LOC101927018', 'score': 11.86}, {'connected_gene': 'ENSG00000265474', 'score': 11.23}, {'connected_gene': 'ENSG00000265908', 'score': 10.58}, {'connected_gene': 'PHF12', 'score': 10.52}, {'connected_gene': 'RAB34', 'score': 10.21}, {'connected_gene': 'VTN', 'score': 7.78}, {'connected_gene': 'PIR55130', 'score': 0.44}]
chr17	GH17I028282	28282002	28283787	0.97	[{'connected_gene': 'TMEM97', 'score': 12.11}, {'connected_gene': 'SUPT6H', 'score': 9.94}, {'connected_gene': 'POLDIP2', 'score': 4.87}, {'connected_gene': 'SARM1', 'score': 4.86}, {'connected_gene': 'PIRC93', 'score': 0.77}, {'connected_gene': 'PIR58208', 'score': 0.44}, {'connected_gene': 'GC17M029101', 'score': 0.44}, {'connected_gene': 'KRT18P55', 'score': 0.29}]
chr17	GH17I028317	28317529	28321207	2.04	[{'connected_gene': 'TMEM97', 'score': 564.02}, {'connected_gene': 'PIR55263', 'score': 550.77}, {'connected_gene': 'KRT18P55', 'score': 550.77}, {'connected_gene': 'LOC101927018', 'score': 31.72}, {'connected_gene': 'SUPT6H', 'score': 30.82}, {'connected_gene': 'NUFIP2', 'score': 28.42}, {'connected_gene': 'ENSG00000264577', 'score': 27.01}, {'connected_gene': 'PHF12', 'score': 25.72}, {'connected_gene': 'ENSG00000265908', 'score': 24.26}, {'connected_gene': 'ITM2BP1', 'score': 19.95}, {'connected_gene': 'TMEM199', 'score': 19.62}, {'connected_gene': 'PIGS', 'score': 12.45}, {'connected_gene': 'SDF2', 'score': 12.45}, {'connected_gene': 'ENSG00000265205', 'score': 11.58}, {'connected_gene': 'SLC46A1', 'score': 10.61}, {'connected_gene': 'VTN', 'score': 10.34}, {'connected_gene': 'TRAF4', 'score': 4.67}, {'connected_gene': 'GC17M029020', 'score': 0.39}]
chr17	GH17I028188	28188915	28190466	0.88	[{'connected_gene': 'TMEM199', 'score': 11.69}, {'connected_gene': 'TMEM97', 'score': 4.8}, {'connected_gene': 'LOC105371710', 'score': 0.34}, {'connected_gene': 'GC17M028133', 'score': 0.22}, {'connected_gene': 'NLK', 'score': 0.11}]
chr17	GH17I028323	28323955	28326871	0.94	[{'connected_gene': 'SLC46A1', 'score': 10.61}, {'connected_gene': 'VTN', 'score': 10.24}, {'connected_gene': 'TRAF4', 'score': 4.73}, {'connected_gene': 'GC17M029020', 'score': 0.77}, {'connected_gene': 'TMEM97', 'score': 0.44}]
chr17	GH17I028403	28403896	28408945	2.01	[{'connected_gene': 'SLC46A1', 'score': 550.77}, {'connected_gene': 'ENSG00000265254', 'score': 550.77}, {'connected_gene': 'SUPT6H', 'score': 14.68}, {'connected_gene': 'NUFIP2', 'score': 14.11}, {'connected_gene': 'NEK8', 'score': 12.24}, {'connected_gene': 'ENSG00000264577', 'score': 11.53}, {'connected_gene': 'ENSG00000265474', 'score': 11.23}, {'connected_gene': 'POLDIP2', 'score': 10.68}, {'connected_gene': 'ITM2BP1', 'score': 10.47}, {'connected_gene': 'TMEM97', 'score': 5.09}, {'connected_gene': 'NOS2', 'score': 3.92}, {'connected_gene': 'GC17P028402', 'score': 0.77}, {'connected_gene': 'SARM1', 'score': 0.26}]
chr17	GH17I028326	28326914	28327285	0.54	[{'connected_gene': 'SLC46A1', 'score': 10.61}, {'connected_gene': 'GC17M029020', 'score': 0.77}, {'connected_gene': 'TMEM97', 'score': 0.44}]
chr17	GH17I028250	28250695	28252364	1.13	[{'connected_gene': 'LOC105371712', 'score': 550.77}, {'connected_gene': 'GC17M028252', 'score': 550.77}, {'connected_gene': 'POLDIP2', 'score': 5.33}, {'connected_gene': 'TMEM97', 'score': 4.67}, {'connected_gene': 'PIRC93', 'score': 0.28}]
chr17	GH17I028402	28402423	28402592	0.56	[{'connected_gene': 'GC17P028402', 'score': 550.77}, {'connected_gene': 'GC17M029117', 'score': 550.77}, {'connected_gene': 'TMEM97', 'score': 4.53}, {'connected_gene': 'SLC46A1', 'score': 0.77}, {'connected_gene': 'ENSG00000265254', 'score': 0.77}, {'connected_gene': 'SARM1', 'score': 0.28}]