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
chr18	12308046	12308094	CAGE_peak_2_at_TUBB6_5end
chr18	12308232	12308252	CAGE_peak_1_at_TUBB6_5end
chr18	12308546	12308564	CAGE_peak_3_at_TUBB6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr18	GH18I012313	12313042	12318885	1.34	[{'connected_gene': 'TUBB6', 'score': 27.21}, {'connected_gene': 'AFG3L2', 'score': 11.19}, {'connected_gene': 'RNU7-129P', 'score': 10.23}, {'connected_gene': 'PRELID3A', 'score': 10.21}, {'connected_gene': 'IMPA2', 'score': 5.38}, {'connected_gene': 'CHMP1B', 'score': 1.8}]
chr18	GH18I012333	12333970	12337778	1.07	[{'connected_gene': 'TUBB6', 'score': 38.32}, {'connected_gene': 'AFG3L2', 'score': 11.98}, {'connected_gene': 'RNU7-129P', 'score': 10.5}, {'connected_gene': 'PRELID3A', 'score': 10.49}, {'connected_gene': 'ENSG00000267199', 'score': 8.22}]
chr18	GH18I012311	12311648	12312868	0.46	[{'connected_gene': 'TUBB6', 'score': 26.97}, {'connected_gene': 'AFG3L2', 'score': 11.19}, {'connected_gene': 'RNU7-129P', 'score': 10.22}, {'connected_gene': 'PRELID3A', 'score': 10.21}]
chr18	GH18I012338	12338224	12339071	0.2	[{'connected_gene': 'TUBB6', 'score': 25.71}, {'connected_gene': 'AFG3L2', 'score': 12.82}, {'connected_gene': 'RNU6-170P', 'score': 11.62}, {'connected_gene': 'RNU7-129P', 'score': 10.92}, {'connected_gene': 'PRELID3A', 'score': 10.91}, {'connected_gene': 'PSMG2', 'score': 10.43}, {'connected_gene': 'CEP76', 'score': 10.43}, {'connected_gene': 'ENSG00000267069', 'score': 4.83}]
chr18	GH18I012327	12327177	12328896	1.04	[{'connected_gene': 'TUBB6', 'score': 24.36}, {'connected_gene': 'AFG3L2', 'score': 12.03}, {'connected_gene': 'RNU6-170P', 'score': 11.85}]
chr18	GH18I012320	12320287	12321902	0.38	[{'connected_gene': 'TUBB6', 'score': 27.21}, {'connected_gene': 'AFG3L2', 'score': 0.22}]
chr18	GH18I012371	12371315	12374005	0.86	[{'connected_gene': 'TUBB6', 'score': 16.29}, {'connected_gene': 'AFG3L2', 'score': 0.77}]
chr18	GH18I012306	12306052	12311260	2.49	[{'connected_gene': 'TUBB6', 'score': 576.94}, {'connected_gene': 'PRELID3A', 'score': 14.99}, {'connected_gene': 'PTPN2', 'score': 12.71}, {'connected_gene': 'MPPE1', 'score': 11.76}, {'connected_gene': 'AFG3L2', 'score': 11.19}, {'connected_gene': 'PSMG2', 'score': 10.64}, {'connected_gene': 'RNU7-129P', 'score': 10.21}, {'connected_gene': 'CHMP1B', 'score': 5.74}]
chr18	GH18I012366	12366187	12367798	0.2	[{'connected_gene': 'TUBB6', 'score': 15.2}, {'connected_gene': 'RNU7-129P', 'score': 11.43}, {'connected_gene': 'PRELID3A', 'score': 11.4}, {'connected_gene': 'AFG3L2', 'score': 0.39}]
chr18	GH18I012257	12257421	12257642	0.51	[{'connected_gene': 'CIDEA', 'score': 13.45}, {'connected_gene': 'RNU6-170P', 'score': 11.35}, {'connected_gene': 'TUBB6', 'score': 11.34}, {'connected_gene': 'LOC105371996', 'score': 0.77}, {'connected_gene': 'ENSG00000280302', 'score': 0.34}]
chr18	GH18I012254	12253429	12256701	1.47	[{'connected_gene': 'CIDEA', 'score': 566.06}, {'connected_gene': 'LOC105371996', 'score': 550.77}, {'connected_gene': 'TUBB6', 'score': 11.9}, {'connected_gene': 'RNU6-170P', 'score': 11.28}, {'connected_gene': 'ENSG00000267733', 'score': 5.1}, {'connected_gene': 'PRELID3A', 'score': 4.81}, {'connected_gene': 'ENSG00000267199', 'score': 4.65}, {'connected_gene': 'ENSG00000280302', 'score': 0.34}]
chr18	GH18I012375	12375096	12378580	2.08	[{'connected_gene': 'AFG3L2', 'score': 550.77}, {'connected_gene': 'ENSG00000267199', 'score': 24.97}, {'connected_gene': 'TUBB6', 'score': 16.96}, {'connected_gene': 'PRELID3A', 'score': 11.11}, {'connected_gene': 'ENSG00000267108', 'score': 10.32}]
chr18	GH18I012374	12374448	12374749	0.56	[{'connected_gene': 'AFG3L2', 'score': 0.77}, {'connected_gene': 'TUBB6', 'score': 0.2}]
chr18	GH18I012347	12347443	12347508	0.26	[{'connected_gene': 'AFG3L2', 'score': 14.26}, {'connected_gene': 'CEP76', 'score': 12.06}, {'connected_gene': 'TUBB6', 'score': 11.6}, {'connected_gene': 'RNU6-170P', 'score': 11.58}, {'connected_gene': 'RNU7-129P', 'score': 10.94}, {'connected_gene': 'PRELID3A', 'score': 10.92}, {'connected_gene': 'PSMG2', 'score': 10.43}]
chr18	GH18I012415	12415322	12416200	0.77	[{'connected_gene': 'PRELID3A', 'score': 13.48}, {'connected_gene': 'SPIRE1', 'score': 11.3}, {'connected_gene': 'AFG3L2', 'score': 10.93}, {'connected_gene': 'PSMG2', 'score': 9.88}, {'connected_gene': 'CEP76', 'score': 9.87}, {'connected_gene': 'TUBB6', 'score': 4.45}, {'connected_gene': 'GC18P012573', 'score': 0.37}]
chr18	GH18I012258	12258909	12259254	0.54	[{'connected_gene': 'RNU6-170P', 'score': 11.35}, {'connected_gene': 'TUBB6', 'score': 11.35}, {'connected_gene': 'CIDEA', 'score': 9.14}, {'connected_gene': 'LOC105371996', 'score': 0.77}, {'connected_gene': 'ENSG00000280302', 'score': 0.34}]
chr18	GH18I012277	12277496	12284245	1.67	[{'connected_gene': 'ENSG00000280302', 'score': 550.77}, {'connected_gene': 'TUBB6', 'score': 22.77}, {'connected_gene': 'ENSG00000267199', 'score': 9.01}, {'connected_gene': 'PRELID3A', 'score': 7.47}, {'connected_gene': 'ENSG00000267069', 'score': 6.36}, {'connected_gene': 'CIDEA', 'score': 4.84}]
chr18	GH18I012286	12286885	12290503	1.56	[{'connected_gene': 'ENSG00000267069', 'score': 560.87}, {'connected_gene': 'ENSG00000267199', 'score': 7.98}, {'connected_gene': 'TUBB6', 'score': 6.88}, {'connected_gene': 'GC18M015132', 'score': 0.37}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000590693	[[12307667, 12307768], [12308260, 12308348], [12308685, 12308794], [12310941, 12311052], [12325065, 12325180]]	[[12308291, 12308348], [12308685, 12308794], [12310941, 12311052], [12325065, 12325180]]
ENST00000317702	[[12308057, 12308348], [12308685, 12308794], [12310941, 12311052], [12325065, 12326618]]	[[12308291, 12308348], [12308685, 12308794], [12310941, 12311052], [12325065, 12326129]]
ENST00000590103	[[12308230, 12308348], [12308685, 12308794], [12325065, 12325913]]	[[12308291, 12308348], [12308685, 12308794], [12325065, 12325913]]
ENST00000591909	[[12308232, 12308348], [12308685, 12308794], [12310941, 12311052], [12329144, 12329825]]	[[12308291, 12308348], [12308685, 12308794], [12310941, 12311052], [12329144, 12329182]]
ENST00000590388	[[12308239, 12308348], [12308685, 12308794], [12310941, 12311052], [12320627, 12320743], [12325065, 12325196]]	[[12308291, 12308348], [12308685, 12308794], [12310941, 12311052], [12320627, 12320683]]
ENST00000586653	[[12308239, 12308348], [12308685, 12308794], [12310941, 12311052], [12324807, 12325266]]	[[12308291, 12308348], [12308685, 12308794], [12310941, 12311052], [12324807, 12324821]]
ENST00000586810	[[12308239, 12308348], [12308685, 12308794], [12310941, 12311052], [12320534, 12320743], [12324807, 12325762]]	[[12308291, 12308348], [12308685, 12308794], [12310941, 12311052], [12320534, 12320683]]
ENST00000417736	[[12308239, 12308794], [12310941, 12311052], [12325065, 12326562]]	None
ENST00000592683	[[12308245, 12308348], [12308685, 12308794], [12310941, 12311052], [12324965, 12325123]]	[[12308291, 12308348], [12308685, 12308794], [12310941, 12311052], [12324965, 12325003]]
ENST00000590967	[[12308251, 12308348], [12308685, 12308794], [12310941, 12311052], [12337111, 12337224]]	[[12308291, 12308348], [12308685, 12308794], [12310941, 12311052], [12337111, 12337182]]
ENST00000591208	[[12308260, 12308348], [12308685, 12308794], [12310941, 12311052], [12325065, 12325099], [12325181, 12326331]]	[[12308291, 12308348], [12308685, 12308794], [12310941, 12311052], [12325065, 12325099], [12325181, 12325281]]
ENST00000591463	[[12308261, 12308348], [12310941, 12311052], [12325065, 12325352]]	[[12310991, 12311052], [12325065, 12325352]]
ENST00000586691	[[12310965, 12311052], [12344047, 12344319]]	[[12310965, 12311052], [12344047, 12344055]]
ENST00000587204	[[12308242, 12308348], [12308685, 12308794], [12310941, 12311134]]	None
NM_001303524	[[12307667, 12307768], [12308260, 12308348], [12308685, 12308794], [12310941, 12311052], [12325065, 12326615]]	[[12308291, 12308348], [12308685, 12308794], [12310941, 12311052], [12325065, 12326129]]
NM_001303527	[[12308057, 12308348], [12310941, 12311052], [12325065, 12326615]]	[[12310991, 12311052], [12325065, 12326129]]
NM_001303526	[[12308057, 12308348], [12308685, 12308794], [12325065, 12326615]]	[[12308291, 12308348], [12308685, 12308794], [12325065, 12326129]]
NM_032525	[[12308057, 12308348], [12308685, 12308794], [12310941, 12311052], [12325065, 12326615]]	[[12308291, 12308348], [12308685, 12308794], [12310941, 12311052], [12325065, 12326129]]
NM_001303529	[[12308057, 12308348], [12308685, 12308794], [12310941, 12311052], [12324807, 12326615]]	[[12325226, 12326129]]
NM_001303528	[[12308057, 12308348], [12308685, 12308794], [12310941, 12311052], [12320627, 12320743], [12325065, 12326615]]	[[12320661, 12320743], [12325065, 12326129]]
NM_001303530	[[12308057, 12308348], [12308685, 12308794], [12310941, 12311052], [12320534, 12320743], [12324807, 12326615]]	[[12325226, 12326129]]
NM_001303525	[[12308057, 12308348], [12308685, 12308794], [12310941, 12311052], [12329144, 12329825]]	[[12308291, 12308348], [12308685, 12308794], [12310941, 12311052], [12329144, 12329182]]