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
ENST00000580377	[[26904587, 26904788], [26905027, 26905310], [26905390, 26905448]]	None
ENST00000582175	[[26904587, 26904788], [26905027, 26905108], [26905235, 26905546], [26905689, 26905753]]	None
ENST00000321765	[[26904591, 26904788], [26905027, 26905108], [26905235, 26905310], [26905390, 26905546], [26905689, 26905770], [26906158, 26906270], [26906382, 26906503], [26906768, 26906855], [26907026, 26907138], [26910528, 26910667], [26910870, 26911004], [26911167, 26911270], [26911350, 26911498], [26911669, 26911763], [26912119, 26912233], [26912336, 26912429], [26912551, 26912671], [26912881, 26913016], [26913107, 26913200], [26913442, 26913517], [26918715, 26918890], [26918999, 26920084], [26925527, 26925653], [26925913, 26926297]]	[[26904716, 26904788], [26905027, 26905108], [26905235, 26905310], [26905390, 26905546], [26905689, 26905770], [26906158, 26906270], [26906382, 26906503], [26906768, 26906855], [26907026, 26907138], [26910528, 26910667], [26910870, 26911004], [26911167, 26911270], [26911350, 26911498], [26911669, 26911763], [26912119, 26912233], [26912336, 26912429], [26912551, 26912671], [26912881, 26913016], [26913107, 26913200], [26913442, 26913517], [26918715, 26918890], [26918999, 26920084], [26925527, 26925653], [26925913, 26925964]]
ENST00000582076	[[26904597, 26904769], [26905027, 26905108], [26905235, 26905310], [26905390, 26905546], [26905689, 26905770], [26906158, 26906270], [26906382, 26906424]]	[[26904760, 26904769], [26905027, 26905108], [26905235, 26905310], [26905390, 26905546], [26905689, 26905770], [26906158, 26906270], [26906382, 26906424]]
ENST00000580676	[[26904620, 26904788], [26905027, 26905770], [26906158, 26906270]]	None
ENST00000581133	[[26905394, 26905546], [26905689, 26905770], [26906158, 26906503], [26906768, 26906855], [26907026, 26907104]]	None
ENST00000580682	[[26906177, 26906270], [26906382, 26906503], [26906768, 26907189]]	None
ENST00000577259	[[26906226, 26906270], [26906382, 26906503], [26906768, 26907138], [26910528, 26910644]]	None
ENST00000580406	[[26906417, 26906503], [26906768, 26906855], [26907026, 26907790]]	None
ENST00000378976	[[26906771, 26906855], [26907026, 26907162], [26910528, 26910667], [26910870, 26911004], [26911167, 26911270], [26911350, 26911498], [26911669, 26911680]]	[[26907138, 26907162], [26910528, 26910667], [26910870, 26911004], [26911167, 26911270], [26911350, 26911498], [26911669, 26911680]]
ENST00000578230	[[26906833, 26906855], [26907026, 26907138], [26909744, 26909837], [26910528, 26910636]]	[[26909771, 26909837], [26910528, 26910636]]
ENST00000580083	[[26907026, 26907138], [26910528, 26910667], [26910870, 26911004], [26911167, 26911270], [26911350, 26911498], [26912119, 26912233], [26912336, 26912429], [26912881, 26913016]]	[[26911450, 26911498], [26912119, 26912233], [26912336, 26912429], [26912881, 26913016]]
ENST00000584206	[[26911443, 26911498], [26911669, 26911763], [26912119, 26912233], [26912336, 26912429], [26912881, 26913016], [26913107, 26913200], [26913442, 26913517], [26918715, 26918771]]	[[26911443, 26911498], [26911669, 26911763], [26912119, 26912233], [26912336, 26912429], [26912881, 26913016], [26913107, 26913200], [26913442, 26913517], [26918715, 26918771]]
ENST00000580567	[[26918715, 26918890], [26918999, 26919495], [26925527, 26925653], [26925913, 26926015]]	[[26919450, 26919495], [26925527, 26925653], [26925913, 26925964]]
ENST00000578479	[[26918715, 26918890], [26918999, 26919492], [26925527, 26925653], [26925913, 26926023]]	[[26919450, 26919492], [26925527, 26925653], [26925913, 26925964]]
ENST00000536674	[[26919489, 26920084], [26925482, 26925653], [26925913, 26926017]]	[[26919489, 26920084], [26925482, 26925653], [26925913, 26925964]]
NM_006461	[[26904582, 26904788], [26905027, 26905108], [26905235, 26905310], [26905390, 26905546], [26905689, 26905770], [26906158, 26906270], [26906382, 26906503], [26906768, 26906855], [26907026, 26907138], [26910528, 26910667], [26910870, 26911004], [26911167, 26911270], [26911350, 26911498], [26911669, 26911763], [26912119, 26912233], [26912336, 26912429], [26912551, 26912671], [26912881, 26913016], [26913107, 26913200], [26913442, 26913517], [26918715, 26918890], [26918999, 26920084], [26925527, 26925653], [26925913, 26926056]]	[[26904716, 26904788], [26905027, 26905108], [26905235, 26905310], [26905390, 26905546], [26905689, 26905770], [26906158, 26906270], [26906382, 26906503], [26906768, 26906855], [26907026, 26907138], [26910528, 26910667], [26910870, 26911004], [26911167, 26911270], [26911350, 26911498], [26911669, 26911763], [26912119, 26912233], [26912336, 26912429], [26912551, 26912671], [26912881, 26913016], [26913107, 26913200], [26913442, 26913517], [26918715, 26918890], [26918999, 26920084], [26925527, 26925653], [26925913, 26925964]]

Promoter

Chrom	Start	End	Description
chr17	26911586	26911592	CAGE_peak_9_at_SPAG5_5end
chr17	26911596	26911605	CAGE_peak_8_at_SPAG5_5end
chr17	26926005	26926070	CAGE_peak_1_at_SPAG5_5end
chr17	26926596	26926673	CAGE_peak_2_at_SPAG5_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	GH17I028660	28660658	28664192	2.27	[{'connected_gene': 'SUPT6H', 'score': 561.53}, {'connected_gene': 'SDF2', 'score': 550.77}, {'connected_gene': 'PROCA1', 'score': 12.31}, {'connected_gene': 'ENSG00000264044', 'score': 11.43}, {'connected_gene': 'SNORD42A', 'score': 11.3}, {'connected_gene': 'SNORD4B', 'score': 11.3}, {'connected_gene': 'SGK494', 'score': 11.14}, {'connected_gene': 'SPAG5-AS1', 'score': 11.1}, {'connected_gene': 'NEK8', 'score': 10.6}, {'connected_gene': 'TLCD1', 'score': 10.59}, {'connected_gene': 'SPAG5', 'score': 4.31}, {'connected_gene': 'ENSG00000265205', 'score': 0.39}]
chr17	GH17I028944	28944905	28953772	2.57	[{'connected_gene': 'PHF12', 'score': 594.3}, {'connected_gene': 'PIPOX', 'score': 550.77}, {'connected_gene': 'SUPT6H', 'score': 55.98}, {'connected_gene': 'NUFIP2', 'score': 55.55}, {'connected_gene': 'ENSG00000264577', 'score': 54.5}, {'connected_gene': 'ENSG00000265908', 'score': 34.21}, {'connected_gene': 'ENSG00000265205', 'score': 34.14}, {'connected_gene': 'SDF2', 'score': 32.89}, {'connected_gene': 'TMEM199', 'score': 30.97}, {'connected_gene': 'RPL23A', 'score': 30.09}, {'connected_gene': 'ENSG00000264290', 'score': 10.11}, {'connected_gene': 'MYO18A', 'score': 5.48}, {'connected_gene': 'SPAG5', 'score': 4.91}]
chr17	GH17I028576	28576383	28578020	2.02	[{'connected_gene': 'ALDOC', 'score': 550.77}, {'connected_gene': 'SUPT6H', 'score': 24.64}, {'connected_gene': 'ENSG00000264577', 'score': 23.83}, {'connected_gene': 'PHF12', 'score': 21.98}, {'connected_gene': 'NUFIP2', 'score': 21.87}, {'connected_gene': 'TMEM199', 'score': 21.42}, {'connected_gene': 'SDF2', 'score': 14.28}, {'connected_gene': 'SPAG5-AS1', 'score': 12.02}, {'connected_gene': 'SGK494', 'score': 11.96}, {'connected_gene': 'RPL23A', 'score': 11.17}, {'connected_gene': 'KIAA0100', 'score': 11.17}, {'connected_gene': 'UNC119', 'score': 7.25}, {'connected_gene': 'ENSG00000265168', 'score': 0.77}, {'connected_gene': 'SPAG5', 'score': 0.34}, {'connected_gene': 'ENSG00000258472', 'score': 0.28}]
chr17	GH17I028863	28863697	28866975	1.69	[{'connected_gene': 'DHRS13', 'score': 42.9}, {'connected_gene': 'RPL23A', 'score': 21.98}, {'connected_gene': 'PROCA1', 'score': 19.61}, {'connected_gene': 'NUFIP2', 'score': 16.69}, {'connected_gene': 'SUPT6H', 'score': 16.46}, {'connected_gene': 'PHF12', 'score': 15.73}, {'connected_gene': 'ENSG00000264577', 'score': 15.32}, {'connected_gene': 'ENSG00000265908', 'score': 12.55}, {'connected_gene': 'FLOT2', 'score': 12.53}, {'connected_gene': 'TLCD1', 'score': 11.65}, {'connected_gene': 'NEK8', 'score': 11.65}, {'connected_gene': 'SNORD42A', 'score': 11.64}, {'connected_gene': 'SNORD4B', 'score': 11.64}, {'connected_gene': 'ENSG00000265205', 'score': 11.57}, {'connected_gene': 'SDF2', 'score': 11.21}, {'connected_gene': 'RAB34', 'score': 10.7}, {'connected_gene': 'SNORD42B', 'score': 10.7}, {'connected_gene': 'ENSG00000264290', 'score': 10.11}, {'connected_gene': 'TMEM199', 'score': 9.93}, {'connected_gene': 'KIAA0100', 'score': 9.55}, {'connected_gene': 'TIAF1', 'score': 5.95}, {'connected_gene': 'UNC119', 'score': 5.18}, {'connected_gene': 'SPAG5', 'score': 1.29}, {'connected_gene': 'ENSG00000264066', 'score': 0.77}, {'connected_gene': 'ENSG00000264304', 'score': 0.31}]
chr17	GH17I028932	28932530	28933870	0.31	[{'connected_gene': 'DHRS13', 'score': 12.22}, {'connected_gene': 'FLOT2', 'score': 11.52}, {'connected_gene': 'SUPT6H', 'score': 9.95}, {'connected_gene': 'ENSG00000264577', 'score': 4.94}, {'connected_gene': 'PROCA1', 'score': 4.14}, {'connected_gene': 'SPAG5', 'score': 4.04}, {'connected_gene': 'LOC101927018', 'score': 0.44}, {'connected_gene': 'ENSG00000265908', 'score': 0.39}, {'connected_gene': 'PHF12', 'score': 0.37}]
chr17	GH17I028581	28581202	28581800	0.38	[{'connected_gene': 'SGK494', 'score': 11.97}, {'connected_gene': 'UNC119', 'score': 11.36}, {'connected_gene': 'KIAA0100', 'score': 11.32}, {'connected_gene': 'ALDOC', 'score': 0.77}, {'connected_gene': 'SPAG5-AS1', 'score': 0.37}, {'connected_gene': 'SPAG5', 'score': 0.37}, {'connected_gene': 'ENSG00000258472', 'score': 0.29}]
chr17	GH17I028597	28597501	28600504	2.07	[{'connected_gene': 'SPAG5-AS1', 'score': 550.77}, {'connected_gene': 'SPAG5', 'score': 550.77}, {'connected_gene': 'NUFIP2', 'score': 42.18}, {'connected_gene': 'SUPT6H', 'score': 42.09}, {'connected_gene': 'ENSG00000264577', 'score': 41.39}, {'connected_gene': 'PHF12', 'score': 39.88}, {'connected_gene': 'SDF2', 'score': 34.26}, {'connected_gene': 'ENSG00000265908', 'score': 26.07}, {'connected_gene': 'ITM2BP1', 'score': 22.38}, {'connected_gene': 'PROCA1', 'score': 22.14}, {'connected_gene': 'TMEM199', 'score': 21.55}, {'connected_gene': 'ENSG00000265205', 'score': 21.47}, {'connected_gene': 'RPL23A', 'score': 20.74}, {'connected_gene': 'ENSG00000264290', 'score': 18.14}, {'connected_gene': 'PIGS', 'score': 12.7}, {'connected_gene': 'LOC101927018', 'score': 11.11}, {'connected_gene': 'ENSG00000258472', 'score': 0.37}]
chr17	GH17I029412	29412201	29414376	0.69	[{'connected_gene': 'GC17P029416', 'score': 550.77}, {'connected_gene': 'GC17P029417', 'score': 550.77}, {'connected_gene': 'GC17P029414', 'score': 550.77}, {'connected_gene': 'GC17P029418', 'score': 550.77}, {'connected_gene': 'GC17P029413', 'score': 550.77}, {'connected_gene': 'GC17P029419', 'score': 550.77}, {'connected_gene': 'PIR55086', 'score': 550.77}, {'connected_gene': 'GC17P029415', 'score': 550.77}, {'connected_gene': 'ENSG00000264808', 'score': 8.43}, {'connected_gene': 'SPAG5', 'score': 5.67}, {'connected_gene': 'PROCA1', 'score': 5.26}, {'connected_gene': 'RNU6-711P', 'score': 0.39}, {'connected_gene': 'TAOK1', 'score': 0.34}]