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
ENST00000313766	[[192968, 193804], [195553, 195732], [208897, 208976], [286380, 286473], [288280, 288396], [295814, 295995], [296619, 296729], [296970, 297052], [298611, 298671], [299696, 300711]]	[[193199, 193804], [195553, 195732], [208897, 208976], [286380, 286473], [288280, 288396], [295814, 295995], [296619, 296729], [296970, 297052], [298611, 298671], [299696, 299946]]
ENST00000477004	[[195241, 195327], [195553, 195732], [208897, 208976]]	None
ENST00000471328	[[195624, 195732], [197129, 197575]]	None
ENST00000515795	[[285860, 286473], [288280, 288396], [295814, 295995], [296619, 296729], [296970, 297052], [298611, 298671], [299696, 300711]]	None
ENST00000512382	[[296160, 296729], [296970, 297419]]	None
NM_020223	[[192968, 193804], [195553, 195732], [208897, 208976], [286380, 286473], [288280, 288396], [295814, 295995], [296619, 296729], [296970, 297052], [298611, 298671], [299696, 300740]]	[[193199, 193804], [195553, 195732], [208897, 208976], [286380, 286473], [288280, 288396], [295814, 295995], [296619, 296729], [296970, 297052], [298611, 298671], [299696, 299946]]

Promoter

Chrom	Start	End	Description
chr7	192561	192579	CAGE_peak_1_at_FAM20C_5end
chr7	193412	193430	CAGE_peak_5_at_FAM20C_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I000216	216377	217978	0.43	[{'connected_gene': 'FAM20C', 'score': 13.57}, {'connected_gene': 'ENSG00000240093', 'score': 13.21}, {'connected_gene': 'DNAAF5', 'score': 5.18}, {'connected_gene': 'ENSG00000249852', 'score': 0.39}]
chr7	GH07I000190	190646	196013	2.26	[{'connected_gene': 'FAM20C', 'score': 553.94}, {'connected_gene': 'ENSG00000240093', 'score': 550.77}, {'connected_gene': 'SUN1', 'score': 14.22}, {'connected_gene': 'DNAAF5', 'score': 11.58}, {'connected_gene': 'ENSG00000261795', 'score': 7.95}, {'connected_gene': 'LOC100507642', 'score': 6.75}]
chr7	GH07I000088	88341	88490	0.63	[{'connected_gene': 'FAM20C', 'score': 11.65}, {'connected_gene': 'ENSG00000242611', 'score': 9.98}, {'connected_gene': 'ENSG00000232325', 'score': 0.44}, {'connected_gene': 'LOC101929756', 'score': 0.39}, {'connected_gene': 'GC07M000089', 'score': 0.26}]
chr7	GH07I000131	131201	132716	0.71	[{'connected_gene': 'FAM20C', 'score': 4.92}, {'connected_gene': 'LOC100507642', 'score': 4.9}, {'connected_gene': 'GC07M000089', 'score': 0.77}, {'connected_gene': 'PIR39601', 'score': 0.77}]
chr7	GH07I000218	218194	218701	0.38	[{'connected_gene': 'FAM20C', 'score': 13.54}, {'connected_gene': 'ENSG00000249852', 'score': 0.39}, {'connected_gene': 'ENSG00000240093', 'score': 0.34}]
chr7	GH07I000219	218748	220944	0.84	[{'connected_gene': 'FAM20C', 'score': 13.54}, {'connected_gene': 'ENSG00000249852', 'score': 0.44}, {'connected_gene': 'ENSG00000240093', 'score': 0.31}]
chr7	GH07I001051	1051994	1056800	1.76	[{'connected_gene': 'GPR146', 'score': 550.44}, {'connected_gene': 'LOC105375120', 'score': 48.03}, {'connected_gene': 'LOC101927021', 'score': 43.94}, {'connected_gene': 'ZFAND2A', 'score': 13.04}, {'connected_gene': 'COX19', 'score': 12.46}, {'connected_gene': 'GPER1', 'score': 5.54}, {'connected_gene': 'FAM20C', 'score': 4.88}, {'connected_gene': 'GC07P001058', 'score': 0.77}, {'connected_gene': 'ENSG00000257607', 'score': 0.77}, {'connected_gene': 'GC07M001041', 'score': 0.44}, {'connected_gene': 'PIR31890', 'score': 0.44}, {'connected_gene': 'C7orf50', 'score': 0.18}]
chr7	GH07I000179	179253	179350	0.2	[{'connected_gene': 'LOC105375116', 'score': 0.77}, {'connected_gene': 'FAM20C', 'score': 0.39}]
chr7	GH07I000148	148416	151469	1.69	[{'connected_gene': 'LOC100507642', 'score': 560.36}, {'connected_gene': 'ENSG00000242474', 'score': 557.08}, {'connected_gene': 'LOC102723672', 'score': 550.77}, {'connected_gene': 'ENSG00000261795', 'score': 21.66}, {'connected_gene': 'ENSG00000240093', 'score': 12.11}, {'connected_gene': 'FAM20C', 'score': 12.11}, {'connected_gene': 'ENSG00000242611', 'score': 4.81}, {'connected_gene': 'GC07P000154', 'score': 0.77}, {'connected_gene': 'GC07M000141', 'score': 0.37}]
chr7	GH07I000189	189281	189430	0.43	[{'connected_gene': 'ENSG00000240093', 'score': 0.77}, {'connected_gene': 'FAM20C', 'score': 0.77}, {'connected_gene': 'LOC105375116', 'score': 0.39}]
chr7	GH07I000100	100698	103430	0.97	[{'connected_gene': 'ENSG00000242611', 'score': 10.88}, {'connected_gene': 'FAM20C', 'score': 5.38}, {'connected_gene': 'GC07P000097', 'score': 0.77}, {'connected_gene': 'LOC105375114', 'score': 0.37}, {'connected_gene': 'GC07M000089', 'score': 0.31}]
chr7	GH07I000089	88553	92071	1.37	[{'connected_gene': 'ENSG00000242611', 'score': 18.84}, {'connected_gene': 'FAM20C', 'score': 14.36}, {'connected_gene': 'ENSG00000232325', 'score': 0.44}, {'connected_gene': 'LOC101929756', 'score': 0.39}, {'connected_gene': 'GC07M000089', 'score': 0.28}]
chr7	GH07I000294	294385	295049	0.65	[{'connected_gene': 'ENSG00000249852', 'score': 12.17}, {'connected_gene': 'FAM20C', 'score': 12.12}, {'connected_gene': 'WI2-2373I1.2', 'score': 0.77}, {'connected_gene': 'GC07P000306', 'score': 0.44}]
chr7	GH07I000284	284194	286210	0.31	[{'connected_gene': 'GC07P000283', 'score': 550.77}, {'connected_gene': 'ENSG00000249852', 'score': 12.59}, {'connected_gene': 'FAM20C', 'score': 12.53}, {'connected_gene': 'WI2-2373I1.2', 'score': 0.77}]
chr7	GH07I000214	214319	215229	0.63	[{'connected_gene': 'ENSG00000240093', 'score': 13.21}, {'connected_gene': 'FAM20C', 'score': 13.21}, {'connected_gene': 'ENSG00000242611', 'score': 5.22}, {'connected_gene': 'ENSG00000249852', 'score': 0.39}]
chr7	GH07I000133	133950	135529	0.31	[{'connected_gene': 'ENSG00000240093', 'score': 12.06}, {'connected_gene': 'FAM20C', 'score': 12.06}, {'connected_gene': 'GC07M000089', 'score': 0.77}, {'connected_gene': 'PIR39601', 'score': 0.77}]
chr7	GH07I000233	233202	235860	0.2	[{'connected_gene': 'ENSG00000249852', 'score': 0.77}, {'connected_gene': 'GC07P000259', 'score': 0.34}, {'connected_gene': 'FAM20C', 'score': 0.26}]
chr7	GH07I000213	213646	214008	0.49	[{'connected_gene': 'ENSG00000240093', 'score': 0.37}, {'connected_gene': 'ENSG00000249852', 'score': 0.37}, {'connected_gene': 'FAM20C', 'score': 0.34}]
chr7	GH07I000197	197081	198104	0.81	[{'connected_gene': 'ENSG00000261795', 'score': 6.62}, {'connected_gene': 'ENSG00000240093', 'score': 0.77}, {'connected_gene': 'FAM20C', 'score': 0.77}, {'connected_gene': 'ENSG00000249852', 'score': 0.29}]
chr7	GH07I000094	94384	98664	0.86	[{'connected_gene': 'GC07P000097', 'score': 550.77}, {'connected_gene': 'ENSG00000232325', 'score': 550.77}, {'connected_gene': 'ENSG00000242611', 'score': 16.02}, {'connected_gene': 'FAM20C', 'score': 11.66}, {'connected_gene': 'GC07M000089', 'score': 0.29}]
chr7	GH07I000246	245804	248069	0.38	[{'connected_gene': 'GC07P000259', 'score': 0.39}, {'connected_gene': 'ENSG00000249852', 'score': 0.37}, {'connected_gene': 'FAM20C', 'score': 0.23}]
chr7	GH07I000207	207881	208010	0.52	[{'connected_gene': 'ENSG00000240093', 'score': 0.39}, {'connected_gene': 'FAM20C', 'score': 0.37}, {'connected_gene': 'ENSG00000249852', 'score': 0.34}]
chr7	GH07I000209	209816	210474	0.58	[{'connected_gene': 'ENSG00000240093', 'score': 0.37}, {'connected_gene': 'FAM20C', 'score': 0.37}, {'connected_gene': 'ENSG00000249852', 'score': 0.37}]
chr7	GH07I000245	245294	245645	0.2	[{'connected_gene': 'GC07P000259', 'score': 0.39}, {'connected_gene': 'ENSG00000249852', 'score': 0.37}, {'connected_gene': 'FAM20C', 'score': 0.23}]
chr7	GH07I000225	225974	231038	0.69	[{'connected_gene': 'ENSG00000249852', 'score': 550.77}, {'connected_gene': 'ENSG00000242611', 'score': 4.8}, {'connected_gene': 'SUN1', 'score': 4.67}, {'connected_gene': 'ENSG00000240093', 'score': 0.29}, {'connected_gene': 'FAM20C', 'score': 0.28}]
chr7	GH07I001022	1022758	1030186	2.19	[{'connected_gene': 'PIR42102', 'score': 550.77}, {'connected_gene': 'LOC105375120', 'score': 43.66}, {'connected_gene': 'LOC101927021', 'score': 34.49}, {'connected_gene': 'CYP2W1', 'score': 24.97}, {'connected_gene': 'ZFAND2A', 'score': 18.07}, {'connected_gene': 'COX19', 'score': 12.52}, {'connected_gene': 'DNAAF5', 'score': 10.9}, {'connected_gene': 'SUN1', 'score': 9.78}, {'connected_gene': 'GPER1', 'score': 7.97}, {'connected_gene': 'FAM20C', 'score': 5.05}, {'connected_gene': 'MIR339', 'score': 0.77}, {'connected_gene': 'ENSG00000225146', 'score': 0.77}, {'connected_gene': 'C7orf50', 'score': 0.14}]
chr7	GH07I000184	184379	185347	0.2	[{'connected_gene': 'ENSG00000261795', 'score': 8.68}, {'connected_gene': 'ENSG00000240093', 'score': 5.34}, {'connected_gene': 'LOC105375116', 'score': 0.44}, {'connected_gene': 'FAM20C', 'score': 0.44}]
chr7	GH07I000130	128802	130591	0.6	[{'connected_gene': 'GC07M000089', 'score': 550.77}, {'connected_gene': 'LOC100507642', 'score': 8.62}, {'connected_gene': 'ENSG00000242611', 'score': 5.49}, {'connected_gene': 'FAM20C', 'score': 5.25}, {'connected_gene': 'LOC105375114', 'score': 0.39}]