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

Promoter

Chrom	Start	End	Description
chr3	52739588	52739621	CAGE_peak_2_at_GLT8D1_5end
chr3	52739715	52739730	CAGE_peak_5_at_GLT8D1_5end
chr3	52739741	52739760	CAGE_peak_4_at_GLT8D1_5end
chr3	52739762	52739823	CAGE_peak_1_at_GLT8D1_5end
chr3	52739826	52739833	CAGE_peak_8_at_GLT8D1_5end
chr3	52740012	52740091	CAGE_peak_3_at_GLT8D1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I053517	53517757	53520554	1.13	[{'connected_gene': 'GLT8D1', 'score': 16.13}, {'connected_gene': 'RFT1', 'score': 12.28}, {'connected_gene': 'CACNA1D', 'score': 12.09}, {'connected_gene': 'SNORD38C', 'score': 9.95}, {'connected_gene': 'PBRM1', 'score': 9.68}, {'connected_gene': 'NT5DC2', 'score': 5.37}, {'connected_gene': 'TKT', 'score': 4.52}, {'connected_gene': 'GC03P053524', 'score': 0.44}, {'connected_gene': 'RPS25P4', 'score': 0.26}]
chr3	GH03I053140	53140402	53141800	1.43	[{'connected_gene': 'GLT8D1', 'score': 24.09}, {'connected_gene': 'RFT1', 'score': 22.26}, {'connected_gene': 'NISCH', 'score': 19.52}, {'connected_gene': 'PRKCD', 'score': 14.47}, {'connected_gene': 'ACTR8', 'score': 11.38}, {'connected_gene': 'NEK4', 'score': 11.24}, {'connected_gene': 'STIMATE', 'score': 8.07}, {'connected_gene': 'ITIH4', 'score': 7.34}, {'connected_gene': 'DCP1A', 'score': 6.17}, {'connected_gene': 'ITIH3', 'score': 4.87}, {'connected_gene': 'PBRM1', 'score': 1.98}, {'connected_gene': 'TKT', 'score': 1.23}, {'connected_gene': 'PIR59540', 'score': 0.77}]
chr3	GH03I053165	53165269	53172654	1.36	[{'connected_gene': 'PRKCD', 'score': 21.13}, {'connected_gene': 'STIMATE', 'score': 5.73}, {'connected_gene': 'GLT8D1', 'score': 4.48}, {'connected_gene': 'TKT', 'score': 4.29}, {'connected_gene': 'GNL3', 'score': 4.13}, {'connected_gene': 'DCP1A', 'score': 3.57}, {'connected_gene': 'PBRM1', 'score': 2.75}]
chr3	GH03I052714	52714225	52715806	0.69	[{'connected_gene': 'PBRM1', 'score': 30.75}, {'connected_gene': 'GLT8D1', 'score': 0.44}, {'connected_gene': 'LOC100301990', 'score': 0.37}, {'connected_gene': 'NEK4', 'score': 0.22}]
chr3	GH03I052696	52696408	52697995	0.83	[{'connected_gene': 'PBRM1', 'score': 30.72}, {'connected_gene': 'ITIH1', 'score': 5.39}, {'connected_gene': 'ITIH3', 'score': 4.62}, {'connected_gene': 'GNL3', 'score': 4.45}, {'connected_gene': 'SNORD69', 'score': 0.77}, {'connected_gene': 'SPCS1', 'score': 0.44}, {'connected_gene': 'GLT8D1', 'score': 0.44}]
chr3	GH03I052719	52719885	52723010	0.99	[{'connected_gene': 'PBRM1', 'score': 41.18}, {'connected_gene': 'GNL3', 'score': 16.81}, {'connected_gene': 'SNORD69', 'score': 11.43}, {'connected_gene': 'ENSG00000222345', 'score': 11.41}, {'connected_gene': 'SNORD19B', 'score': 11.41}, {'connected_gene': 'SNORD19', 'score': 11.41}, {'connected_gene': 'ENSG00000252787', 'score': 11.41}, {'connected_gene': 'ITIH1', 'score': 11.4}, {'connected_gene': 'STAB1', 'score': 6.12}, {'connected_gene': 'SFMBT1', 'score': 5.02}, {'connected_gene': 'LOC100301990', 'score': 0.39}, {'connected_gene': 'GLT8D1', 'score': 0.37}, {'connected_gene': 'NEK4', 'score': 0.25}]
chr3	GH03I052739	52739072	52740909	0.31	[{'connected_gene': 'PBRM1', 'score': 38.37}, {'connected_gene': 'GNL3', 'score': 21.8}, {'connected_gene': 'ITIH4', 'score': 19.08}, {'connected_gene': 'RFT1', 'score': 12.13}, {'connected_gene': 'RRP9', 'score': 12.0}, {'connected_gene': 'GLT8D1', 'score': 11.83}, {'connected_gene': 'SNORD69', 'score': 11.15}, {'connected_gene': 'ITIH4-AS1', 'score': 11.0}, {'connected_gene': 'ENSG00000243696', 'score': 10.97}, {'connected_gene': 'MUSTN1', 'score': 10.66}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 10.61}, {'connected_gene': 'STIMATE', 'score': 10.61}, {'connected_gene': 'NT5DC2', 'score': 10.01}, {'connected_gene': 'SMIM4', 'score': 10.01}, {'connected_gene': 'STAB1', 'score': 10.0}, {'connected_gene': 'LOC100499399', 'score': 0.77}, {'connected_gene': 'LOC101059924', 'score': 0.39}, {'connected_gene': 'NEK4', 'score': 0.29}]
chr3	GH03I053354	53354779	53355851	1.09	[{'connected_gene': 'PBRM1', 'score': 17.32}, {'connected_gene': 'SNORD38C', 'score': 11.61}, {'connected_gene': 'ENSG00000212608', 'score': 11.11}, {'connected_gene': 'GLT8D1', 'score': 10.4}, {'connected_gene': 'GNL3', 'score': 10.07}, {'connected_gene': 'DCP1A', 'score': 10.05}, {'connected_gene': 'RFT1', 'score': 9.9}, {'connected_gene': 'TKT', 'score': 5.96}, {'connected_gene': 'LOC105377094', 'score': 0.37}, {'connected_gene': 'CACNA1D', 'score': 0.31}, {'connected_gene': 'GC03P053298', 'score': 0.22}]
chr3	GH03I052618	52618242	52618613	0.24	[{'connected_gene': 'ITIH1', 'score': 5.27}, {'connected_gene': 'GLT8D1', 'score': 2.97}, {'connected_gene': 'GLYCTK', 'score': 1.44}, {'connected_gene': 'MUSTN1', 'score': 1.27}, {'connected_gene': 'RNU6ATAC16P', 'score': 0.22}, {'connected_gene': 'GNL3', 'score': 0.21}, {'connected_gene': 'PBRM1', 'score': 0.2}]
chr3	GH03I052703	52703448	52708025	2.26	[{'connected_gene': 'SPCS1', 'score': 550.77}, {'connected_gene': 'GLT8D1', 'score': 550.77}, {'connected_gene': 'PBRM1', 'score': 30.81}, {'connected_gene': 'RFT1', 'score': 4.56}]
chr3	GH03I052021	52021601	52023039	1.05	[{'connected_gene': 'RAD54L2', 'score': 17.48}, {'connected_gene': 'GLT8D1', 'score': 16.13}, {'connected_gene': 'NISCH', 'score': 11.72}, {'connected_gene': 'RRP9', 'score': 9.89}, {'connected_gene': 'PBRM1', 'score': 9.68}, {'connected_gene': 'GPR62', 'score': 6.23}, {'connected_gene': 'GC03P052016', 'score': 0.44}, {'connected_gene': 'LOC105377088', 'score': 0.39}]
chr3	GH03I052243	52243437	52248334	2.45	[{'connected_gene': 'PPM1M', 'score': 568.16}, {'connected_gene': 'PBRM1', 'score': 18.78}, {'connected_gene': 'LOC101929054', 'score': 16.73}, {'connected_gene': 'GLYCTK', 'score': 16.24}, {'connected_gene': 'IQCF2', 'score': 14.8}, {'connected_gene': 'IQCF5', 'score': 14.46}, {'connected_gene': 'PHF7', 'score': 14.39}, {'connected_gene': 'IQCF6', 'score': 13.91}, {'connected_gene': 'IQCF1', 'score': 13.7}, {'connected_gene': 'WDR82', 'score': 13.64}, {'connected_gene': 'MIR135A1', 'score': 11.7}, {'connected_gene': 'GLYCTK-AS1', 'score': 11.69}, {'connected_gene': 'MUSTN1', 'score': 4.88}, {'connected_gene': 'RPL29', 'score': 4.6}, {'connected_gene': 'GLT8D1', 'score': 1.88}, {'connected_gene': 'DNAH1', 'score': 1.81}, {'connected_gene': 'TWF2', 'score': 1.7}, {'connected_gene': 'GC03M052258', 'score': 0.39}, {'connected_gene': 'GC03M052257', 'score': 0.39}, {'connected_gene': 'PIR61179', 'score': 0.39}]
chr3	GH03I051955	51955129	51957143	1.44	[{'connected_gene': 'GPR62', 'score': 554.83}, {'connected_gene': 'RPL29', 'score': 33.15}, {'connected_gene': 'NISCH', 'score': 14.95}, {'connected_gene': 'GLT8D1', 'score': 14.31}, {'connected_gene': 'RAD54L2', 'score': 12.13}, {'connected_gene': 'NT5DC2', 'score': 9.55}, {'connected_gene': 'PARP3', 'score': 6.3}, {'connected_gene': 'GC03P051963', 'score': 0.44}]
chr3	GH03I052729	52729905	52731754	0.2	[{'connected_gene': 'LOC100301990', 'score': 550.77}, {'connected_gene': 'PBRM1', 'score': 29.99}, {'connected_gene': 'ITIH1', 'score': 5.46}, {'connected_gene': 'GNL3', 'score': 4.83}, {'connected_gene': 'ITIH4', 'score': 4.82}, {'connected_gene': 'GLT8D1', 'score': 0.34}, {'connected_gene': 'NEK4', 'score': 0.26}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000478968	[[52728504, 52729051], [52729205, 52729318], [52729436, 52729603], [52729943, 52730056], [52730249, 52730334], [52730557, 52730675], [52731736, 52731950], [52734277, 52734376], [52734460, 52734512], [52738739, 52738968], [52739718, 52739807]]	[[52728860, 52729051], [52729205, 52729318], [52729436, 52729603], [52729943, 52730056], [52730249, 52730334], [52730557, 52730675], [52731736, 52731950], [52734277, 52734376], [52734460, 52734476]]
ENST00000394783	[[52728507, 52729051], [52729205, 52729318], [52729436, 52729603], [52729943, 52730056], [52730249, 52730334], [52730557, 52730675], [52731736, 52731950], [52734277, 52734376], [52734460, 52734512], [52737519, 52737635]]	[[52728860, 52729051], [52729205, 52729318], [52729436, 52729603], [52729943, 52730056], [52730249, 52730334], [52730557, 52730675], [52731736, 52731950], [52734277, 52734376], [52734460, 52734476]]
ENST00000407584	[[52728507, 52729051], [52729205, 52729318], [52729436, 52729603], [52729943, 52730056], [52730249, 52730334], [52730557, 52730675], [52731736, 52731950], [52734277, 52734376], [52734460, 52734512], [52738739, 52738968], [52739462, 52740048]]	[[52728860, 52729051], [52729205, 52729318], [52729436, 52729603], [52729943, 52730056], [52730249, 52730334], [52730557, 52730675], [52731736, 52731950], [52734277, 52734376], [52734460, 52734476]]
ENST00000266014	[[52728507, 52729051], [52729205, 52729318], [52729436, 52729603], [52729943, 52730056], [52730249, 52730334], [52730557, 52730675], [52731736, 52731950], [52734277, 52734376], [52734460, 52734512], [52739462, 52740048]]	[[52728860, 52729051], [52729205, 52729318], [52729436, 52729603], [52729943, 52730056], [52730249, 52730334], [52730557, 52730675], [52731736, 52731950], [52734277, 52734376], [52734460, 52734476]]
ENST00000491606	[[52728518, 52729051], [52729205, 52729318], [52729436, 52729603], [52729943, 52730056], [52730249, 52730334], [52730557, 52730675], [52731736, 52731950], [52734277, 52734376], [52734460, 52734512], [52739714, 52739797]]	[[52728860, 52729051], [52729205, 52729318], [52729436, 52729603], [52729943, 52730056], [52730249, 52730334], [52730557, 52730675], [52731736, 52731950], [52734277, 52734376], [52734460, 52734476]]
ENST00000481643	[[52728687, 52729051], [52729205, 52729318], [52729436, 52729603], [52729943, 52730056], [52730557, 52730596]]	[[52730023, 52730056], [52730557, 52730596]]
ENST00000484163	[[52728817, 52729051], [52729205, 52730056], [52730249, 52730334], [52730557, 52730675], [52731736, 52731950], [52734277, 52734376], [52734460, 52734512], [52739462, 52739698]]	None
ENST00000463827	[[52728914, 52729051], [52729205, 52729318], [52729436, 52729603], [52729943, 52730056], [52730249, 52730334], [52730557, 52730675], [52731520, 52731550]]	None
ENST00000480080	[[52729255, 52730056], [52730557, 52730653]]	None
ENST00000485899	[[52730212, 52730675], [52731736, 52731950], [52734277, 52734376], [52734460, 52734513]]	None
ENST00000479553	[[52730258, 52730334], [52730557, 52730675], [52731736, 52731950], [52734277, 52734376], [52734460, 52734673]]	[[52730258, 52730334], [52730557, 52730675], [52731736, 52731950], [52734277, 52734376], [52734460, 52734476]]
ENST00000489119	[[52731735, 52731950], [52734277, 52734376], [52734460, 52734512], [52739462, 52739802]]	[[52731735, 52731950], [52734277, 52734376], [52734460, 52734476]]
ENST00000497436	[[52731797, 52731950], [52734277, 52734376], [52734460, 52734512], [52735224, 52735359], [52739718, 52739856]]	[[52731797, 52731950], [52734277, 52734376], [52734460, 52734476]]
ENST00000497953	[[52731875, 52731950], [52734277, 52734376], [52734460, 52734512], [52737814, 52737944], [52738739, 52738964], [52739462, 52739670]]	[[52731875, 52731950], [52734277, 52734376], [52734460, 52734476]]
ENST00000487642	[[52731878, 52731950], [52734277, 52734376], [52734460, 52734512], [52738739, 52738968], [52739462, 52739780]]	[[52731878, 52731950], [52734277, 52734376], [52734460, 52734476]]
ENST00000464705	[[52734300, 52734376], [52734460, 52734512], [52737102, 52737271], [52739462, 52739787]]	[[52734300, 52734376], [52734460, 52734476]]
ENST00000463762	[[52738828, 52738968], [52739462, 52740048]]	None
NM_152932	[[52728499, 52729051], [52729205, 52729318], [52729436, 52729603], [52729943, 52730056], [52730249, 52730334], [52730557, 52730675], [52731736, 52731950], [52734277, 52734376], [52734460, 52734512], [52737519, 52737714]]	[[52728860, 52729051], [52729205, 52729318], [52729436, 52729603], [52729943, 52730056], [52730249, 52730334], [52730557, 52730675], [52731736, 52731950], [52734277, 52734376], [52734460, 52734476]]
NM_001010983	[[52728499, 52729051], [52729205, 52729318], [52729436, 52729603], [52729943, 52730056], [52730249, 52730334], [52730557, 52730675], [52731736, 52731950], [52734277, 52734376], [52734460, 52734512], [52738739, 52738968], [52739462, 52740099]]	[[52728860, 52729051], [52729205, 52729318], [52729436, 52729603], [52729943, 52730056], [52730249, 52730334], [52730557, 52730675], [52731736, 52731950], [52734277, 52734376], [52734460, 52734476]]
NM_001278280	[[52728499, 52729051], [52729205, 52729318], [52729436, 52729603], [52729943, 52730056], [52730249, 52730334], [52730557, 52730675], [52731736, 52731950], [52734277, 52734376], [52734460, 52734512], [52738739, 52738964], [52739462, 52740099]]	[[52728860, 52729051], [52729205, 52729318], [52729436, 52729603], [52729943, 52730056], [52730249, 52730334], [52730557, 52730675], [52731736, 52731950], [52734277, 52734376], [52734460, 52734476]]
NM_018446	[[52728499, 52729051], [52729205, 52729318], [52729436, 52729603], [52729943, 52730056], [52730249, 52730334], [52730557, 52730675], [52731736, 52731950], [52734277, 52734376], [52734460, 52734512], [52739462, 52740099]]	[[52728860, 52729051], [52729205, 52729318], [52729436, 52729603], [52729943, 52730056], [52730249, 52730334], [52730557, 52730675], [52731736, 52731950], [52734277, 52734376], [52734460, 52734476]]
NM_001278281	[[52728499, 52729051], [52729205, 52729318], [52729436, 52729603], [52729943, 52730056], [52730249, 52730334], [52730557, 52730675], [52731736, 52731950], [52734277, 52734376], [52734460, 52734512], [52738739, 52738968], [52739718, 52740099]]	[[52728860, 52729051], [52729205, 52729318], [52729436, 52729603], [52729943, 52730056], [52730249, 52730334], [52730557, 52730675], [52731736, 52731950], [52734277, 52734376], [52734460, 52734476]]