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
ENST00000343242	[[1570349, 1570534], [1578784, 1578864], [1579576, 1582679]]	[[1578828, 1578864], [1579576, 1580011]]
ENST00000403150	[[1577122, 1578093], [1578784, 1578864], [1579576, 1580910], [1581934, 1582322]]	[[1578828, 1578864], [1579576, 1580011]]
ENST00000406174	[[1578343, 1578462], [1578784, 1578864], [1579576, 1580009]]	[[1578828, 1578864], [1579576, 1580009]]
NM_002360	[[1570367, 1570534], [1578784, 1578864], [1579576, 1582679]]	[[1578828, 1578864], [1579576, 1580011]]

Promoter

Chrom	Start	End	Description
chr7	1570322	1570360	CAGE_peak_1_at_MAFK_5end
chr7	1570388	1570418	CAGE_peak_2_at_MAFK_5end
chr7	1577076	1577095	CAGE_peak_5_at_MAFK_5end
chr7	1577111	1577132	CAGE_peak_4_at_MAFK_5end
chr7	1577854	1577864	CAGE_peak_11_at_MAFK_5end
chr7	1577899	1577943	CAGE_peak_3_at_MAFK_5end
chr7	1577952	1577963	CAGE_peak_8_at_MAFK_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I001456	1456872	1464041	2.57	[{'connected_gene': 'MICALL2', 'score': 550.77}, {'connected_gene': 'ENSG00000225981', 'score': 550.77}, {'connected_gene': 'INTS1', 'score': 44.63}, {'connected_gene': 'DNAAF5', 'score': 30.01}, {'connected_gene': 'SUN1', 'score': 21.68}, {'connected_gene': 'CHST12', 'score': 19.59}, {'connected_gene': 'EIF3B', 'score': 12.07}, {'connected_gene': 'MRM2', 'score': 10.68}, {'connected_gene': 'MAFK', 'score': 5.19}, {'connected_gene': 'ENSG00000273230', 'score': 0.44}]
chr7	GH07I001580	1579845	1579994	0.8	[{'connected_gene': 'MAFK', 'score': 12.27}, {'connected_gene': 'EIF3B', 'score': 9.71}, {'connected_gene': 'PSMG3', 'score': 0.44}, {'connected_gene': 'PSMG3-AS1', 'score': 0.44}, {'connected_gene': 'LOC105375122', 'score': 0.39}]
chr7	GH07I001579	1579400	1579801	0.96	[{'connected_gene': 'MAFK', 'score': 12.27}, {'connected_gene': 'PSMG3', 'score': 0.44}, {'connected_gene': 'PSMG3-AS1', 'score': 0.44}, {'connected_gene': 'LOC105375122', 'score': 0.39}]
chr7	GH07I001919	1919148	1921111	1.42	[{'connected_gene': 'MAFK', 'score': 3.31}, {'connected_gene': 'SNX8', 'score': 2.2}, {'connected_gene': 'GC07M001848', 'score': 0.34}, {'connected_gene': 'GC07P001949', 'score': 0.31}, {'connected_gene': 'MAD1L1', 'score': 0.06}]
chr7	GH07I001575	1575717	1577709	0.92	[{'connected_gene': 'MAFK', 'score': 13.19}, {'connected_gene': 'BRAT1', 'score': 12.53}, {'connected_gene': 'DNAAF5', 'score': 11.6}, {'connected_gene': 'ENSG00000231927', 'score': 11.0}, {'connected_gene': 'INTS1', 'score': 10.98}, {'connected_gene': 'EIF3B', 'score': 10.93}, {'connected_gene': 'SUN1', 'score': 9.93}, {'connected_gene': 'PSMG3-AS1', 'score': 8.97}, {'connected_gene': 'ELFN1', 'score': 4.35}, {'connected_gene': 'PSMG3', 'score': 0.44}, {'connected_gene': 'GC07P001567', 'score': 0.44}, {'connected_gene': 'LOC105375122', 'score': 0.37}]
chr7	GH07I001529	1529572	1540052	2.61	[{'connected_gene': 'MAFK', 'score': 563.5}, {'connected_gene': 'LOC100128653', 'score': 550.77}, {'connected_gene': 'INTS1', 'score': 18.63}, {'connected_gene': 'TMEM184A', 'score': 16.66}, {'connected_gene': 'DNAAF5', 'score': 12.18}, {'connected_gene': 'SUN1', 'score': 11.92}, {'connected_gene': 'EIF3B', 'score': 10.45}, {'connected_gene': 'ZFAND2A', 'score': 7.06}, {'connected_gene': 'PSMG3-AS1', 'score': 6.2}]
chr7	GH07I001950	1950791	1951915	1.23	[{'connected_gene': 'CHST12', 'score': 10.5}, {'connected_gene': 'MRM2', 'score': 10.41}, {'connected_gene': 'BRAT1', 'score': 10.12}, {'connected_gene': 'MAFK', 'score': 7.46}, {'connected_gene': 'SNX8', 'score': 4.87}, {'connected_gene': 'GC07P001949', 'score': 0.77}, {'connected_gene': 'GC07M001985', 'score': 0.28}, {'connected_gene': 'MAD1L1', 'score': 0.06}]
chr7	GH07I002018	2018002	2021159	1.42	[{'connected_gene': 'MRM2', 'score': 10.43}, {'connected_gene': 'PSMG3', 'score': 6.14}, {'connected_gene': 'NUDT1', 'score': 5.14}, {'connected_gene': 'SNX8', 'score': 3.42}, {'connected_gene': 'MAFK', 'score': 3.34}, {'connected_gene': 'GC07M001999', 'score': 0.37}, {'connected_gene': 'GC07M002088', 'score': 0.19}, {'connected_gene': 'MAD1L1', 'score': 0.08}]
chr7	GH07I001522	1522892	1525109	0.63	[{'connected_gene': 'INTS1', 'score': 18.5}, {'connected_gene': 'MAFK', 'score': 0.44}, {'connected_gene': 'ENSG00000231927', 'score': 0.39}]
chr7	GH07I001525	1525877	1527000	0.98	[{'connected_gene': 'INTS1', 'score': 16.47}, {'connected_gene': 'DNAAF5', 'score': 11.6}, {'connected_gene': 'EIF3B', 'score': 10.93}, {'connected_gene': 'SUN1', 'score': 9.93}, {'connected_gene': 'MAFK', 'score': 0.77}, {'connected_gene': 'ENSG00000231927', 'score': 0.37}]
chr7	GH07I001519	1519719	1522164	1.68	[{'connected_gene': 'INTS1', 'score': 19.16}, {'connected_gene': 'TMEM184A', 'score': 3.1}, {'connected_gene': 'MAFK', 'score': 2.31}, {'connected_gene': 'PSMG3', 'score': 2.25}, {'connected_gene': 'C7orf50', 'score': 1.38}, {'connected_gene': 'ENSG00000231927', 'score': 0.39}]
chr7	GH07I001512	1512202	1518419	1.65	[{'connected_gene': 'INTS1', 'score': 23.41}, {'connected_gene': 'TMEM184A', 'score': 16.8}, {'connected_gene': 'MAFK', 'score': 6.9}, {'connected_gene': 'MICALL2', 'score': 5.2}, {'connected_gene': 'ZFAND2A', 'score': 2.92}, {'connected_gene': 'ENSG00000231927', 'score': 0.44}]
chr7	GH07I001921	1921919	1922869	1.37	[{'connected_gene': 'LOC100127955', 'score': 11.32}, {'connected_gene': 'MRM2', 'score': 9.17}, {'connected_gene': 'MAFK', 'score': 3.4}, {'connected_gene': 'SNX8', 'score': 1.52}, {'connected_gene': 'GC07M001848', 'score': 0.34}, {'connected_gene': 'GC07P001949', 'score': 0.31}, {'connected_gene': 'MAD1L1', 'score': 0.06}]
chr7	GH07I001509	1509258	1509838	0.2	[{'connected_gene': 'ENSG00000231927', 'score': 550.77}, {'connected_gene': 'MAFK', 'score': 0.34}]
chr7	GH07I001540	1540666	1542184	0.38	[{'connected_gene': 'PIR48186', 'score': 550.77}, {'connected_gene': 'PIR32494', 'score': 550.77}, {'connected_gene': 'GC07P001540', 'score': 550.77}, {'connected_gene': 'INTS1', 'score': 17.86}, {'connected_gene': 'MICALL2', 'score': 7.13}, {'connected_gene': 'MAFK', 'score': 0.39}, {'connected_gene': 'TMEM184A', 'score': 0.37}]
chr7	GH07I001510	1510241	1511994	1.14	[{'connected_gene': 'ENSG00000231927', 'score': 550.77}, {'connected_gene': 'INTS1', 'score': 22.19}, {'connected_gene': 'TMEM184A', 'score': 12.17}, {'connected_gene': 'MRM2', 'score': 4.87}, {'connected_gene': 'MAFK', 'score': 0.37}]
chr7	GH07I001542	1542290	1543708	0.52	[{'connected_gene': 'PIR48186', 'score': 550.77}, {'connected_gene': 'INTS1', 'score': 16.6}, {'connected_gene': 'PSMG3-AS1', 'score': 6.29}, {'connected_gene': 'MAFK', 'score': 0.39}, {'connected_gene': 'TMEM184A', 'score': 0.37}]
chr7	GH07I001058	1058425	1061325	1.45	[{'connected_gene': 'GC07M001041', 'score': 550.77}, {'connected_gene': 'PIR54334', 'score': 550.77}, {'connected_gene': 'ENSG00000257607', 'score': 550.77}, {'connected_gene': 'LOC105375120', 'score': 47.99}, {'connected_gene': 'LOC101927021', 'score': 31.42}, {'connected_gene': 'ZFAND2A', 'score': 9.69}, {'connected_gene': 'COX19', 'score': 6.65}, {'connected_gene': 'GPER1', 'score': 5.06}, {'connected_gene': 'MAFK', 'score': 3.97}, {'connected_gene': 'ADAP1', 'score': 3.09}, {'connected_gene': 'GPR146', 'score': 0.37}, {'connected_gene': 'C7orf50', 'score': 0.18}]
chr7	GH07I001061	1061844	1062792	1.47	[{'connected_gene': 'GC07M001041', 'score': 550.77}, {'connected_gene': 'LOC105375120', 'score': 47.84}, {'connected_gene': 'LOC101927021', 'score': 8.01}, {'connected_gene': 'MAFK', 'score': 4.68}, {'connected_gene': 'ADAP1', 'score': 3.53}, {'connected_gene': 'ZFAND2A', 'score': 2.2}, {'connected_gene': 'COX19', 'score': 1.55}, {'connected_gene': 'GC07P001069', 'score': 0.44}, {'connected_gene': 'C7orf50', 'score': 0.18}]
chr7	GH07I001541	1540065	1540186	0.51	[{'connected_gene': 'PIR48186', 'score': 550.77}, {'connected_gene': 'PIR32494', 'score': 550.77}, {'connected_gene': 'GC07P001540', 'score': 550.77}, {'connected_gene': 'LOC100128653', 'score': 0.44}, {'connected_gene': 'MAFK', 'score': 0.44}]