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
ENST00000367262	[[202848084, 202850351], [202858100, 202858263]]	[[202850105, 202850351], [202858100, 202858226]]
NM_002871	[[202847409, 202850351], [202858100, 202858385]]	[[202850105, 202850351], [202858100, 202858226]]

Promoter

Chrom	Start	End	Description
chr1	202858227	202858283	CAGE_peak_1_at_RABIF_5end
chr1	202858289	202858300	CAGE_peak_2_at_RABIF_5end
chr1	202858305	202858314	CAGE_peak_4_at_RABIF_5end
chr1	202858334	202858355	CAGE_peak_3_at_RABIF_5end
chr1	202858369	202858390	CAGE_peak_6_at_RABIF_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I203319	203319506	203329281	1.82	[{'connected_gene': 'ZC3H11A', 'score': 37.1}, {'connected_gene': 'HNRNPA1P59', 'score': 24.23}, {'connected_gene': 'ZBED6', 'score': 21.48}, {'connected_gene': 'FMOD', 'score': 17.2}, {'connected_gene': 'SNRPE', 'score': 11.59}, {'connected_gene': 'LOC100131747', 'score': 11.25}, {'connected_gene': 'BTG2', 'score': 10.74}, {'connected_gene': 'RPS27P8', 'score': 10.03}, {'connected_gene': 'KDM5B', 'score': 9.86}, {'connected_gene': 'TMEM183A', 'score': 2.51}, {'connected_gene': 'RABIF', 'score': 1.7}, {'connected_gene': 'KLHL12', 'score': 1.67}, {'connected_gene': 'LAX1', 'score': 1.65}, {'connected_gene': 'GC01M203320', 'score': 0.44}, {'connected_gene': 'RNU6-487P', 'score': 0.44}]
chr1	GH01I203479	203479839	203481922	1.21	[{'connected_gene': 'ZC3H11A', 'score': 29.39}, {'connected_gene': 'SNRPE', 'score': 25.95}, {'connected_gene': 'KLHL12', 'score': 11.26}, {'connected_gene': 'ZBED6', 'score': 10.84}, {'connected_gene': 'ENSG00000226330', 'score': 10.55}, {'connected_gene': 'RABIF', 'score': 5.5}, {'connected_gene': 'OPTC', 'score': 4.97}, {'connected_gene': 'PRELP', 'score': 0.44}, {'connected_gene': 'GC01M203457', 'score': 0.28}]
chr1	GH01I203486	203486693	203488422	1.38	[{'connected_gene': 'ZC3H11A', 'score': 17.42}, {'connected_gene': 'SNRPE', 'score': 11.13}, {'connected_gene': 'ZBED6', 'score': 11.08}, {'connected_gene': 'PPP1R15B', 'score': 9.76}, {'connected_gene': 'PPFIA4', 'score': 6.35}, {'connected_gene': 'OPTC', 'score': 5.3}, {'connected_gene': 'RABIF', 'score': 4.66}, {'connected_gene': 'PRELP', 'score': 0.39}, {'connected_gene': 'GC01M203457', 'score': 0.29}]
chr1	GH01I203276	203276452	203284323	1.57	[{'connected_gene': 'BTG2', 'score': 19.58}, {'connected_gene': 'SNRPE', 'score': 14.95}, {'connected_gene': 'LINC01136', 'score': 13.26}, {'connected_gene': 'RNU6-487P', 'score': 13.05}, {'connected_gene': 'LOC100506672', 'score': 10.87}, {'connected_gene': 'KDM5B', 'score': 10.76}, {'connected_gene': 'ZBED6', 'score': 10.72}, {'connected_gene': 'ZC3H11A', 'score': 10.48}, {'connected_gene': 'FMOD', 'score': 10.28}, {'connected_gene': 'LOC100131747', 'score': 10.28}, {'connected_gene': 'OPTC', 'score': 10.25}, {'connected_gene': 'PRELP', 'score': 9.59}, {'connected_gene': 'LINC01353', 'score': 6.43}, {'connected_gene': 'RABIF', 'score': 1.28}, {'connected_gene': 'TMEM183A', 'score': 1.27}, {'connected_gene': 'CHIT1', 'score': 0.44}, {'connected_gene': 'GC01P203263', 'score': 0.37}]
chr1	GH01I202862	202862459	202863990	0.72	[{'connected_gene': 'LOC730222', 'score': 568.93}, {'connected_gene': 'LOC148709', 'score': 550.77}, {'connected_gene': 'RABIF', 'score': 12.08}, {'connected_gene': 'KDM5B', 'score': 11.68}, {'connected_gene': 'PCAT6', 'score': 11.68}, {'connected_gene': 'PIR34155', 'score': 0.37}]
chr1	GH01I202887	202887801	202889869	2.04	[{'connected_gene': 'RABIF', 'score': 550.77}, {'connected_gene': 'KLHL12', 'score': 9.82}, {'connected_gene': 'PIR34155', 'score': 0.44}]
chr1	GH01I202865	202865202	202865599	0.2	[{'connected_gene': 'RABIF', 'score': 12.11}, {'connected_gene': 'PCAT6', 'score': 11.68}, {'connected_gene': 'KDM5B', 'score': 11.67}, {'connected_gene': 'LOC148709', 'score': 0.77}, {'connected_gene': 'PIR34155', 'score': 0.37}]
chr1	GH01I202963	202963332	202969976	2.48	[{'connected_gene': 'CYB5R1', 'score': 570.46}, {'connected_gene': 'BTG2', 'score': 14.52}, {'connected_gene': 'ZC3H11A', 'score': 13.63}, {'connected_gene': 'KLHL12', 'score': 13.39}, {'connected_gene': 'LOC100506747', 'score': 11.1}, {'connected_gene': 'ADIPOR1', 'score': 10.86}, {'connected_gene': 'ELF3-AS1', 'score': 10.46}, {'connected_gene': 'PCAT6', 'score': 8.99}, {'connected_gene': 'KDM5B', 'score': 8.99}, {'connected_gene': 'LOC148709', 'score': 6.1}, {'connected_gene': 'LOC730222', 'score': 5.04}, {'connected_gene': 'RABIF', 'score': 2.87}, {'connected_gene': 'GC01M202941', 'score': 0.39}]
chr1	GH01I203158	203158799	203161615	0.2	[{'connected_gene': 'ADORA1', 'score': 15.91}, {'connected_gene': 'CHI3L1', 'score': 11.66}, {'connected_gene': 'MYOG', 'score': 11.04}, {'connected_gene': 'RABIF', 'score': 5.51}, {'connected_gene': 'ENSG00000224671', 'score': 0.44}, {'connected_gene': 'MYBPH', 'score': 0.37}]
chr1	GH01I203161	203161638	203165255	0.57	[{'connected_gene': 'CHI3L1', 'score': 11.69}, {'connected_gene': 'ADORA1', 'score': 11.09}, {'connected_gene': 'MYOG', 'score': 11.03}, {'connected_gene': 'RABIF', 'score': 5.5}, {'connected_gene': 'MYBPH', 'score': 0.39}, {'connected_gene': 'ENSG00000224671', 'score': 0.39}]
chr1	GH01I202856	202856678	202862401	1.72	[{'connected_gene': 'KDM5B', 'score': 24.61}, {'connected_gene': 'LOC730222', 'score': 18.45}, {'connected_gene': 'ADIPOR1', 'score': 16.1}, {'connected_gene': 'RABIF', 'score': 12.08}, {'connected_gene': 'PCAT6', 'score': 11.99}, {'connected_gene': 'LOC148709', 'score': 0.77}, {'connected_gene': 'MGAT4EP', 'score': 0.28}]
chr1	GH01I202835	202835181	202838202	0.72	[{'connected_gene': 'KDM5B', 'score': 42.74}, {'connected_gene': 'PCAT6', 'score': 17.13}, {'connected_gene': 'RABIF', 'score': 11.44}, {'connected_gene': 'CYB5R1', 'score': 10.12}, {'connected_gene': 'CHIT1', 'score': 5.28}, {'connected_gene': 'MGAT4EP', 'score': 0.37}, {'connected_gene': 'LOC730222', 'score': 0.34}]
chr1	GH01I202886	202886601	202886800	0.52	[{'connected_gene': 'KDM5B', 'score': 10.81}, {'connected_gene': 'PCAT6', 'score': 10.81}, {'connected_gene': 'RABIF', 'score': 0.77}, {'connected_gene': 'PIR34155', 'score': 0.44}]
chr1	GH01I203284	203284402	203292791	1.83	[{'connected_gene': 'LINC01353', 'score': 556.14}, {'connected_gene': 'BTG2', 'score': 31.96}, {'connected_gene': 'RNU6-487P', 'score': 12.75}, {'connected_gene': 'KDM5B', 'score': 10.53}, {'connected_gene': 'FMOD', 'score': 9.94}, {'connected_gene': 'LOC100131747', 'score': 9.94}, {'connected_gene': 'RABIF', 'score': 3.51}, {'connected_gene': 'ADIPOR1', 'score': 1.93}, {'connected_gene': 'KLHL12', 'score': 1.48}, {'connected_gene': 'LINC01136', 'score': 0.37}, {'connected_gene': 'GC01P203263', 'score': 0.31}]
chr1	GH01I203150	203150090	203156175	1.44	[{'connected_gene': 'ENSG00000224671', 'score': 550.77}, {'connected_gene': 'ADORA1', 'score': 6.43}, {'connected_gene': 'RABIF', 'score': 5.68}, {'connected_gene': 'FMOD', 'score': 1.41}, {'connected_gene': 'MYBPH', 'score': 0.34}]