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
ENST00000289707	[[159796539, 159796728], [159799655, 159799982], [159802665, 159802971], [159803051, 159803159], [159804973, 159807039]]	[[159796688, 159796728], [159799655, 159799982], [159802665, 159802971], [159803051, 159803159], [159804973, 159805050]]
ENST00000368104	[[159796600, 159796728], [159802665, 159802971], [159803051, 159803159], [159804973, 159805469]]	[[159796688, 159796728], [159802665, 159802971], [159803051, 159803159], [159804973, 159805050]]
ENST00000471286	[[159799797, 159799982], [159802665, 159802971], [159803051, 159803159], [159806874, 159807039]]	None
ENST00000497141	[[159802794, 159802971], [159803051, 159803159], [159806459, 159806585], [159806874, 159807039]]	None
NM_001330741	[[159796478, 159796728], [159802665, 159802971], [159803051, 159803159], [159804973, 159807282]]	[[159796688, 159796728], [159802665, 159802971], [159803051, 159803159], [159804973, 159805050]]
NM_020125	[[159796478, 159796728], [159799655, 159799982], [159802665, 159802971], [159803051, 159803159], [159804973, 159807282]]	[[159796688, 159796728], [159799655, 159799982], [159802665, 159802971], [159803051, 159803159], [159804973, 159805050]]

Promoter

Chrom	Start	End	Description
chr1	159796435	159796444	CAGE_peak_8_at_SLAMF8_5end
chr1	159796471	159796474	CAGE_peak_9_at_SLAMF8_5end
chr1	159796480	159796494	CAGE_peak_5_at_SLAMF8_5end
chr1	159796513	159796524	CAGE_peak_7_at_SLAMF8_5end
chr1	159796534	159796545	CAGE_peak_6_at_SLAMF8_5end
chr1	159796561	159796581	CAGE_peak_4_at_SLAMF8_5end
chr1	159796589	159796617	CAGE_peak_2_at_SLAMF8_5end
chr1	159796620	159796645	CAGE_peak_3_at_SLAMF8_5end
chr1	159796650	159796690	CAGE_peak_1_at_SLAMF8_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I160538	160538049	160545200	1.68	[{'connected_gene': 'CD84', 'score': 17.94}, {'connected_gene': 'SLAMF1', 'score': 16.27}, {'connected_gene': 'VANGL2', 'score': 15.91}, {'connected_gene': 'PPOX', 'score': 10.1}, {'connected_gene': 'ENSG00000228863', 'score': 9.93}, {'connected_gene': 'SLAMF8', 'score': 9.78}, {'connected_gene': 'TSTD1', 'score': 5.87}, {'connected_gene': 'SLAMF6', 'score': 4.36}, {'connected_gene': 'CD48', 'score': 1.96}, {'connected_gene': 'DCAF8', 'score': 1.63}, {'connected_gene': 'LOC105371468', 'score': 0.44}]
chr1	GH01I160187	160187430	160194124	1.9	[{'connected_gene': 'CASQ1', 'score': 566.16}, {'connected_gene': 'USP21', 'score': 39.43}, {'connected_gene': 'LOC100287049', 'score': 31.12}, {'connected_gene': 'PPOX', 'score': 27.9}, {'connected_gene': 'LOC729867', 'score': 22.43}, {'connected_gene': 'NCSTN', 'score': 18.53}, {'connected_gene': 'SNHG28', 'score': 14.99}, {'connected_gene': 'RPSAP18', 'score': 12.38}, {'connected_gene': 'SLAMF8', 'score': 11.13}, {'connected_gene': 'B4GALT3', 'score': 10.65}, {'connected_gene': 'DEDD', 'score': 10.53}, {'connected_gene': 'DCAF8', 'score': 10.45}, {'connected_gene': 'ACKR1', 'score': 10.14}, {'connected_gene': 'CADM3-AS1', 'score': 9.82}, {'connected_gene': 'ATP1A4', 'score': 5.76}, {'connected_gene': 'CFAP45', 'score': 5.32}, {'connected_gene': 'COPA', 'score': 4.97}, {'connected_gene': 'PEA15', 'score': 0.39}]
chr1	GH01I159908	159908211	159926755	2.87	[{'connected_gene': 'TAGLN2', 'score': 559.83}, {'connected_gene': 'GC01M159919', 'score': 550.77}, {'connected_gene': 'GC01M159886', 'score': 550.77}, {'connected_gene': 'LOC100287049', 'score': 34.57}, {'connected_gene': 'NCSTN', 'score': 32.37}, {'connected_gene': 'SLAMF8', 'score': 31.57}, {'connected_gene': 'RAD1P2', 'score': 30.68}, {'connected_gene': 'ENSG00000272668', 'score': 20.86}, {'connected_gene': 'SNHG28', 'score': 17.8}, {'connected_gene': 'VSIG8', 'score': 13.81}, {'connected_gene': 'DCAF8', 'score': 11.97}, {'connected_gene': 'COPA', 'score': 10.55}, {'connected_gene': 'ENSG00000256029', 'score': 9.99}, {'connected_gene': 'FCRL6', 'score': 7.6}, {'connected_gene': 'ENSG00000279430', 'score': 0.44}]
chr1	GH01I159991	159991584	159992000	0.97	[{'connected_gene': 'SLAMF8', 'score': 12.44}, {'connected_gene': 'SLAMF9', 'score': 3.0}, {'connected_gene': 'FCRL6P1', 'score': 0.37}, {'connected_gene': 'RPL27AP2', 'score': 0.31}]
chr1	GH01I159824	159824555	159824922	0.24	[{'connected_gene': 'SLAMF8', 'score': 558.44}, {'connected_gene': 'SNHG28', 'score': 5.54}, {'connected_gene': 'SLAMF9', 'score': 3.38}, {'connected_gene': 'OR10J5', 'score': 1.35}, {'connected_gene': 'LOC105371464', 'score': 0.37}]
chr1	GH01I159825	159825801	159827644	1.29	[{'connected_gene': 'SLAMF8', 'score': 550.77}, {'connected_gene': 'GC01M159841', 'score': 0.37}]
chr1	GH01I159827	159827711	159827860	0.31	[{'connected_gene': 'SLAMF8', 'score': 550.77}, {'connected_gene': 'GC01M159841', 'score': 0.37}]
chr1	GH01I160283	160283082	160285780	2	[{'connected_gene': 'NHLH1', 'score': 550.77}, {'connected_gene': 'ENSG00000258465', 'score': 550.77}, {'connected_gene': 'PEX19', 'score': 550.77}, {'connected_gene': 'DEDD', 'score': 14.97}, {'connected_gene': 'B4GALT3', 'score': 14.71}, {'connected_gene': 'LINC01133', 'score': 13.9}, {'connected_gene': 'NCSTN', 'score': 12.82}, {'connected_gene': 'SLAMF8', 'score': 11.38}, {'connected_gene': 'USP21', 'score': 9.97}, {'connected_gene': 'COPA', 'score': 5.57}, {'connected_gene': 'RPSAP18', 'score': 0.37}]
chr1	GH01I159881	159881288	159882982	1.61	[{'connected_gene': 'RPSAP18', 'score': 36.6}, {'connected_gene': 'ENSG00000272668', 'score': 32.19}, {'connected_gene': 'SNHG28', 'score': 31.7}, {'connected_gene': 'LOC100287049', 'score': 22.64}, {'connected_gene': 'SLAMF8', 'score': 12.57}, {'connected_gene': 'PIGM', 'score': 12.13}, {'connected_gene': 'DCAF8', 'score': 11.34}, {'connected_gene': 'CADM3', 'score': 11.13}, {'connected_gene': 'CADM3-AS1', 'score': 10.32}, {'connected_gene': 'COPA', 'score': 9.98}, {'connected_gene': 'VSIG8', 'score': 6.77}, {'connected_gene': 'SLAMF9', 'score': 5.45}, {'connected_gene': 'TAGLN2', 'score': 2.04}, {'connected_gene': 'ENSG00000256029', 'score': 0.44}, {'connected_gene': 'CFAP45', 'score': 0.37}, {'connected_gene': 'MIR4259', 'score': 0.37}]
chr1	GH01I159823	159823351	159823502	0.39	[{'connected_gene': 'FCRL6', 'score': 10.97}, {'connected_gene': 'ENSG00000212161', 'score': 10.66}, {'connected_gene': 'SNHG28', 'score': 10.56}, {'connected_gene': 'VSIG8', 'score': 10.55}, {'connected_gene': 'SLAMF8', 'score': 2.18}, {'connected_gene': 'LOC105371464', 'score': 0.37}]
chr1	GH01I159828	159828001	159831083	1.28	[{'connected_gene': 'SNHG28', 'score': 34.24}, {'connected_gene': 'SLAMF8', 'score': 14.96}, {'connected_gene': 'SLAMF9', 'score': 3.7}, {'connected_gene': 'GC01M159841', 'score': 0.37}]
chr1	GH01I159803	159803878	159805343	0.46	[{'connected_gene': 'LOC105371464', 'score': 550.77}, {'connected_gene': 'SLAMF8', 'score': 11.92}, {'connected_gene': 'ENSG00000212161', 'score': 10.86}, {'connected_gene': 'SNHG28', 'score': 10.73}, {'connected_gene': 'VSIG8', 'score': 10.72}, {'connected_gene': 'DUSP23', 'score': 10.7}, {'connected_gene': 'IGSF9', 'score': 10.23}, {'connected_gene': 'FCRL6', 'score': 0.77}]
chr1	GH01I159090	159089911	159093035	1.06	[{'connected_gene': 'RAD1P2', 'score': 12.11}, {'connected_gene': 'SLAMF8', 'score': 11.14}, {'connected_gene': 'SNHG28', 'score': 10.54}, {'connected_gene': 'AIM2', 'score': 6.36}, {'connected_gene': 'GC01M159143', 'score': 0.23}, {'connected_gene': 'TRR-TCT4-1', 'score': 0.23}]
chr1	GH01I159848	159848591	159850463	1.09	[{'connected_gene': 'ENSG00000272668', 'score': 47.09}, {'connected_gene': 'SLAMF9', 'score': 4.37}, {'connected_gene': 'SLAMF8', 'score': 1.74}, {'connected_gene': 'TAGLN2', 'score': 1.31}, {'connected_gene': 'GC01M159841', 'score': 0.77}, {'connected_gene': 'ENSG00000212161', 'score': 0.77}, {'connected_gene': 'GC01M159852', 'score': 0.77}, {'connected_gene': 'SNHG28', 'score': 0.44}]
chr1	GH01I159872	159872506	159873576	0.2	[{'connected_gene': 'ENSG00000256029', 'score': 550.77}, {'connected_gene': 'ENSG00000212161', 'score': 12.13}, {'connected_gene': 'ENSG00000272668', 'score': 11.88}, {'connected_gene': 'SLAMF8', 'score': 11.59}, {'connected_gene': 'FCRL6', 'score': 10.62}, {'connected_gene': 'CFAP45', 'score': 0.31}]
chr1	GH01I159868	159868798	159870099	0.92	[{'connected_gene': 'ENSG00000272668', 'score': 12.11}, {'connected_gene': 'SLAMF8', 'score': 11.29}, {'connected_gene': 'FCRL6', 'score': 10.57}, {'connected_gene': 'ENSG00000256029', 'score': 0.77}]
chr1	GH01I159888	159888967	159891999	1.66	[{'connected_gene': 'ENSG00000272668', 'score': 34.46}, {'connected_gene': 'SLAMF8', 'score': 17.04}, {'connected_gene': 'SNHG28', 'score': 16.35}, {'connected_gene': 'FCRL6', 'score': 12.13}, {'connected_gene': 'VSIG8', 'score': 11.62}, {'connected_gene': 'ENSG00000212161', 'score': 11.59}, {'connected_gene': 'IGSF9', 'score': 10.93}, {'connected_gene': 'DUSP23', 'score': 10.84}, {'connected_gene': 'PIGM', 'score': 9.57}, {'connected_gene': 'SLAMF9', 'score': 5.85}, {'connected_gene': 'TAGLN2', 'score': 2.78}, {'connected_gene': 'COPA', 'score': 1.22}, {'connected_gene': 'MIR4259', 'score': 0.44}, {'connected_gene': 'CFAP45', 'score': 0.44}, {'connected_gene': 'ENSG00000256029', 'score': 0.37}, {'connected_gene': 'GC01M159886', 'score': 0.31}]
chr1	GH01I159845	159845625	159847612	0.66	[{'connected_gene': 'GC01M159841', 'score': 550.77}, {'connected_gene': 'SNHG28', 'score': 20.58}, {'connected_gene': 'SLAMF8', 'score': 10.3}, {'connected_gene': 'ENSG00000212161', 'score': 0.44}, {'connected_gene': 'GC01M159852', 'score': 0.44}]
chr1	GH01I159842	159842855	159844303	0.49	[{'connected_gene': 'GC01M159841', 'score': 550.77}, {'connected_gene': 'SNHG28', 'score': 22.94}, {'connected_gene': 'SLAMF8', 'score': 0.37}]
chr1	GH01I159817	159817241	159818095	0.85	[{'connected_gene': 'ENSG00000212161', 'score': 11.62}, {'connected_gene': 'SNHG28', 'score': 11.19}, {'connected_gene': 'VSIG8', 'score': 11.17}, {'connected_gene': 'SLAMF8', 'score': 0.44}, {'connected_gene': 'LOC105371464', 'score': 0.39}]