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
ENST00000544257	[[8834286, 8834414], [8866406, 8866637], [8902457, 8902688], [8904552, 8904639], [8906485, 8906689], [8925916, 8926062], [8930185, 8930398], [8933170, 8933335], [8935507, 8935691]]	[[8866462, 8866637], [8902457, 8902688], [8904552, 8904639], [8906485, 8906689], [8925916, 8926062], [8930185, 8930266]]
ENST00000535829	[[8850495, 8850893], [8866406, 8866637], [8902457, 8902688], [8904552, 8904639], [8906485, 8906689], [8925916, 8927001]]	[[8866462, 8866637], [8902457, 8902688], [8904552, 8904639], [8906485, 8906689], [8925916, 8926380]]
ENST00000357529	[[8850517, 8850893], [8852380, 8853210], [8866406, 8866637], [8902457, 8902688], [8904552, 8904639], [8906485, 8906689], [8925916, 8929787]]	[[8866462, 8866637], [8902457, 8902688], [8904552, 8904639], [8906485, 8906689], [8925916, 8926380]]
ENST00000299673	[[8850632, 8850893], [8852380, 8853210], [8866406, 8866637], [8902457, 8902688], [8904552, 8904639], [8906485, 8906689], [8925916, 8926062], [8930185, 8930228]]	None
ENST00000538135	[[8852441, 8853210], [8866406, 8866637], [8902457, 8902688], [8904552, 8904639], [8906485, 8906689], [8925916, 8929786]]	[[8866462, 8866637], [8902457, 8902688], [8904552, 8904639], [8906485, 8906689], [8925916, 8926380]]
ENST00000538758	[[8834195, 8834414], [8866406, 8866757]]	None
ENST00000541044	[[8849772, 8849928], [8866406, 8866637], [8902457, 8902625]]	[[8866462, 8866637], [8902457, 8902625]]
ENST00000539923	[[8850276, 8850336], [8850813, 8850893], [8866406, 8866637], [8902457, 8902567]]	[[8866462, 8866637], [8902457, 8902567]]
ENST00000537189	[[8850277, 8850374], [8850813, 8850893], [8866406, 8866637], [8902457, 8902609]]	[[8850327, 8850374], [8850813, 8850893], [8866406, 8866637], [8902457, 8902609]]
ENST00000542232	[[8930185, 8930398], [8932630, 8932708], [8933170, 8933335], [8935507, 8935691]]	None
ENST00000504495	[[8931626, 8933335], [8935507, 8935691]]	None
ENST00000510357	[[8932407, 8932708], [8933170, 8933335], [8935507, 8935691]]	None
NR_123740	[[8834272, 8834414], [8866406, 8866637], [8902457, 8902688], [8904552, 8904639], [8906485, 8906689], [8925916, 8926062], [8930185, 8930398], [8933170, 8933335], [8935507, 8935694]]	None
NM_001297776	[[8850495, 8850893], [8866406, 8866637], [8902457, 8902688], [8904552, 8904639], [8906485, 8906689], [8925916, 8929787]]	[[8866462, 8866637], [8902457, 8902688], [8904552, 8904639], [8906485, 8906689], [8925916, 8926380]]
NM_020734	[[8852380, 8853210], [8866406, 8866637], [8902457, 8902688], [8904552, 8904639], [8906485, 8906689], [8925916, 8929787]]	[[8866462, 8866637], [8902457, 8902688], [8904552, 8904639], [8906485, 8906689], [8925916, 8926380]]

Promoter

Chrom	Start	End	Description
chr12	8834179	8834186	CAGE_peak_7_at_RIMKLB_5end
chr12	8834188	8834202	CAGE_peak_3_at_RIMKLB_5end
chr12	8834231	8834269	CAGE_peak_4_at_RIMKLB_5end
chr12	8849887	8849912	CAGE_peak_12_at_RIMKLB_5end
chr12	8850300	8850313	CAGE_peak_10_at_RIMKLB_5end
chr12	8850471	8850534	CAGE_peak_2_at_RIMKLB_5end
chr12	8850541	8850608	CAGE_peak_1_at_RIMKLB_5end
chr12	8850618	8850628	CAGE_peak_9_at_RIMKLB_5end
chr12	8850696	8850708	CAGE_peak_11_at_RIMKLB_5end
chr12	8850796	8850811	CAGE_peak_8_at_RIMKLB_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I008241	8241640	8244401	1.44	[{'connected_gene': 'FAM86FP', 'score': 555.32}, {'connected_gene': 'PHC1', 'score': 41.35}, {'connected_gene': 'NANOG', 'score': 21.53}, {'connected_gene': 'RIMKLB', 'score': 11.82}, {'connected_gene': 'ENSG00000256552', 'score': 6.1}, {'connected_gene': 'LINC00612', 'score': 4.86}, {'connected_gene': 'LINC02449', 'score': 0.44}, {'connected_gene': 'GC12P008268', 'score': 0.31}]
chr12	GH12I008648	8648104	8649548	0.8	[{'connected_gene': 'RIMKLB', 'score': 6.53}, {'connected_gene': 'MFAP5', 'score': 0.39}, {'connected_gene': 'HADHAP2', 'score': 0.39}]
chr12	GH12I008692	8692042	8693727	0.88	[{'connected_gene': 'RIMKLB', 'score': 27.35}, {'connected_gene': 'PHC1', 'score': 17.88}, {'connected_gene': 'RPSAP51', 'score': 0.25}]
chr12	GH12I008695	8695972	8700590	1.98	[{'connected_gene': 'RIMKLB', 'score': 573.0}, {'connected_gene': 'A2M-AS1', 'score': 5.27}, {'connected_gene': 'RPSAP51', 'score': 0.26}]
chr12	GH12I008805	8805201	8805400	0.31	[{'connected_gene': 'RIMKLB', 'score': 4.81}, {'connected_gene': 'ENSG00000249790', 'score': 0.37}, {'connected_gene': 'A2ML1-AS2', 'score': 0.37}, {'connected_gene': 'A2ML1-AS1', 'score': 0.31}]
chr12	GH12I008675	8675201	8676400	0.72	[{'connected_gene': 'RIMKLB', 'score': 35.35}, {'connected_gene': 'LOC101060064', 'score': 0.77}, {'connected_gene': 'ENSG00000255829', 'score': 0.39}]
chr12	GH12I008679	8679063	8683331	1.03	[{'connected_gene': 'RIMKLB', 'score': 588.89}, {'connected_gene': 'LOC101060064', 'score': 0.77}]
chr12	GH12I008687	8687304	8688625	1.31	[{'connected_gene': 'RIMKLB', 'score': 18.4}, {'connected_gene': 'RPSAP51', 'score': 0.23}]
chr12	GH12I008689	8689845	8689994	0.31	[{'connected_gene': 'RIMKLB', 'score': 0.44}, {'connected_gene': 'RPSAP51', 'score': 0.23}]
chr12	GH12I008700	8700670	8701899	0.43	[{'connected_gene': 'RIMKLB', 'score': 0.37}, {'connected_gene': 'RPSAP51', 'score': 0.26}]
chr12	GH12I008634	8634854	8637239	0.31	[{'connected_gene': 'HADHAP2', 'score': 550.77}, {'connected_gene': 'MFAP5', 'score': 13.0}, {'connected_gene': 'ENSG00000255829', 'score': 13.0}, {'connected_gene': 'CLEC4E', 'score': 10.91}, {'connected_gene': 'A2ML1-AS2', 'score': 10.25}, {'connected_gene': 'A2ML1', 'score': 10.25}, {'connected_gene': 'RNU6-275P', 'score': 10.04}, {'connected_gene': 'RIMKLB', 'score': 6.33}]
chr12	GH12I008643	8643915	8646302	0.96	[{'connected_gene': 'CLEC4E', 'score': 10.9}, {'connected_gene': 'A2ML1', 'score': 10.26}, {'connected_gene': 'A2ML1-AS2', 'score': 10.26}, {'connected_gene': 'RNU6-275P', 'score': 10.03}, {'connected_gene': 'RIMKLB', 'score': 6.52}, {'connected_gene': 'HADHAP2', 'score': 0.39}, {'connected_gene': 'MFAP5', 'score': 0.37}]
chr12	GH12I008821	8821579	8824200	1.35	[{'connected_gene': 'A2ML1', 'score': 550.77}, {'connected_gene': 'RIMKLB', 'score': 7.48}, {'connected_gene': 'LINC00987', 'score': 5.37}, {'connected_gene': 'A2ML1-AS1', 'score': 0.44}]
chr12	GH12I008709	8709201	8710234	0.72	[{'connected_gene': 'A2ML1', 'score': 10.44}, {'connected_gene': 'A2ML1-AS2', 'score': 10.44}, {'connected_gene': 'RIMKLB', 'score': 0.31}, {'connected_gene': 'RPSAP51', 'score': 0.29}]
chr12	GH12I009646	9646723	9656743	2.29	[{'connected_gene': 'LOC105369728', 'score': 550.77}, {'connected_gene': 'CLEC2D', 'score': 39.35}, {'connected_gene': 'LOC374443', 'score': 32.68}, {'connected_gene': 'DDX12P', 'score': 18.78}, {'connected_gene': 'KLRB1', 'score': 17.77}, {'connected_gene': 'CLECL1', 'score': 17.05}, {'connected_gene': 'CLEC7A', 'score': 16.86}, {'connected_gene': 'M6PR', 'score': 15.96}, {'connected_gene': 'CLEC12A', 'score': 15.45}, {'connected_gene': 'LOC642846', 'score': 13.69}, {'connected_gene': 'ENSG00000213443', 'score': 12.59}, {'connected_gene': 'ENSG00000214776', 'score': 12.04}, {'connected_gene': 'PHC1', 'score': 11.55}, {'connected_gene': 'EIF2S3B', 'score': 10.79}, {'connected_gene': 'LINC00612', 'score': 9.98}, {'connected_gene': 'RIMKLB', 'score': 9.8}, {'connected_gene': 'CD69', 'score': 9.09}, {'connected_gene': 'CLEC2B', 'score': 6.11}, {'connected_gene': 'KLRA1P', 'score': 5.23}, {'connected_gene': 'KLRF1', 'score': 3.79}, {'connected_gene': 'ENSG00000272917', 'score': 0.44}, {'connected_gene': 'ENSG00000284634', 'score': 0.08}]
chr12	GH12I008678	8678685	8678954	0.43	[{'connected_gene': 'LOC101060064', 'score': 550.77}, {'connected_gene': 'RIMKLB', 'score': 0.77}]
chr12	GH12I008827	8827113	8832932	0.67	[{'connected_gene': 'A2ML1-AS1', 'score': 550.77}, {'connected_gene': 'RIMKLB', 'score': 6.74}, {'connected_gene': 'A2ML1', 'score': 5.77}, {'connected_gene': 'BTG1P1', 'score': 5.2}, {'connected_gene': 'KLRG1', 'score': 4.35}]
chr12	GH12I008809	8809229	8811259	0.51	[{'connected_gene': 'A2ML1-AS1', 'score': 11.69}, {'connected_gene': 'RIMKLB', 'score': 4.81}, {'connected_gene': 'A2ML1-AS2', 'score': 0.39}, {'connected_gene': 'ENSG00000249790', 'score': 0.34}]
chr12	GH12I007993	7993678	7996691	1.58	[{'connected_gene': 'RPS20P28', 'score': 550.77}, {'connected_gene': 'FOXJ2', 'score': 11.9}, {'connected_gene': 'DPPA3', 'score': 10.58}, {'connected_gene': 'HSPD1P12', 'score': 6.0}, {'connected_gene': 'RIMKLB', 'score': 4.4}, {'connected_gene': 'GC12M007989', 'score': 0.31}]