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
ENST00000228437	[[108126642, 108128299], [108133159, 108133328], [108134722, 108135037], [108135997, 108136125], [108136973, 108137059], [108138319, 108138438], [108140051, 108140201], [108145191, 108145986], [108147700, 108147886], [108150608, 108150742], [108154281, 108154548], [108154733, 108154937]]	[[108127986, 108128299], [108133159, 108133328], [108134722, 108135037], [108135997, 108136125], [108136973, 108137059], [108138319, 108138438], [108140051, 108140201], [108145191, 108145986], [108147700, 108147886], [108150608, 108150742], [108154281, 108154292]]
ENST00000550376	[[108127967, 108128299], [108133159, 108133328], [108134722, 108135037], [108135997, 108136125], [108136973, 108137059], [108138319, 108138438], [108140051, 108140201], [108145423, 108145986], [108147700, 108147886], [108150608, 108150742], [108154281, 108154548], [108154907, 108155049]]	[[108140144, 108140201], [108145423, 108145986], [108147700, 108147886], [108150608, 108150742], [108154281, 108154292]]
ENST00000549416	[[108134842, 108135037], [108135997, 108136370]]	None
ENST00000550659	[[108136025, 108136125], [108136973, 108137059], [108138319, 108138459], [108140051, 108140201], [108145191, 108145552]]	[[108136025, 108136125], [108136973, 108137059], [108138319, 108138459], [108140051, 108140201], [108145191, 108145552]]
ENST00000547268	[[108147802, 108147886], [108148605, 108148637], [108150608, 108150742], [108154281, 108154548], [108154733, 108154801]]	None
ENST00000547188	[[108147804, 108147886], [108150608, 108150742], [108154281, 108154705]]	[[108147804, 108147886], [108150608, 108150742], [108154281, 108154292]]
NM_012406	[[108126642, 108128299], [108133159, 108133328], [108134722, 108135037], [108135997, 108136125], [108136973, 108137059], [108138319, 108138438], [108140051, 108140201], [108145191, 108145986], [108147700, 108147886], [108150608, 108150742], [108154281, 108154548], [108154733, 108154914]]	[[108127986, 108128299], [108133159, 108133328], [108134722, 108135037], [108135997, 108136125], [108136973, 108137059], [108138319, 108138438], [108140051, 108140201], [108145191, 108145986], [108147700, 108147886], [108150608, 108150742], [108154281, 108154292]]

Promoter

Chrom	Start	End	Description
chr12	108154309	108154359	CAGE_peak_6_at_PRDM4_5end
chr12	108154762	108154776	CAGE_peak_4_at_PRDM4_5end
chr12	108154891	108154923	CAGE_peak_1_at_PRDM4_5end
chr12	108154925	108154945	CAGE_peak_2_at_PRDM4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I108596	108595601	108595800	0.77	[{'connected_gene': 'SART3', 'score': 12.0}, {'connected_gene': 'UBE3B', 'score': 11.14}, {'connected_gene': 'PRDM4', 'score': 10.04}, {'connected_gene': 'TMEM119', 'score': 0.77}, {'connected_gene': 'GC12M108565', 'score': 0.44}, {'connected_gene': 'ISCU', 'score': 0.29}]
chr12	GH12I108559	108559380	108571769	2.51	[{'connected_gene': 'SART3', 'score': 572.83}, {'connected_gene': 'ISCU', 'score': 567.41}, {'connected_gene': 'PWP1', 'score': 22.52}, {'connected_gene': 'FICD', 'score': 21.31}, {'connected_gene': 'UBE3B', 'score': 19.87}, {'connected_gene': 'PRDM4', 'score': 9.81}, {'connected_gene': 'GC12P108558', 'score': 0.44}, {'connected_gene': 'TMEM119', 'score': 0.29}, {'connected_gene': 'GC12M108565', 'score': 0.28}, {'connected_gene': 'GC12P108510', 'score': 0.22}]
chr12	GH12I108578	108578674	108579442	0.69	[{'connected_gene': 'SART3', 'score': 57.79}, {'connected_gene': 'PWP1', 'score': 55.09}, {'connected_gene': 'PRDM4', 'score': 39.14}, {'connected_gene': 'UBE3B', 'score': 18.02}, {'connected_gene': 'WSCD2', 'score': 15.09}, {'connected_gene': 'ALKBH2', 'score': 13.8}, {'connected_gene': 'LOC101929162', 'score': 12.36}, {'connected_gene': 'USP30', 'score': 11.96}, {'connected_gene': 'KCTD10', 'score': 11.12}, {'connected_gene': 'RNU4-32P', 'score': 9.96}, {'connected_gene': 'TMEM119', 'score': 4.84}, {'connected_gene': 'ISCU', 'score': 0.37}, {'connected_gene': 'GC12M108565', 'score': 0.31}]
chr12	GH12I106984	106984883	106988173	2.04	[{'connected_gene': 'MTERF2', 'score': 558.1}, {'connected_gene': 'GC12P106984', 'score': 550.77}, {'connected_gene': 'PWP1', 'score': 14.38}, {'connected_gene': 'PRDM4', 'score': 13.67}, {'connected_gene': 'ENSG00000260329', 'score': 9.19}, {'connected_gene': 'CRY1', 'score': 4.31}]
chr12	GH12I108626	108626747	108650980	2.81	[{'connected_gene': 'SELPLG', 'score': 561.83}, {'connected_gene': 'PWP1', 'score': 46.82}, {'connected_gene': 'SART3', 'score': 38.69}, {'connected_gene': 'PRDM4', 'score': 20.42}, {'connected_gene': 'UBE3B', 'score': 20.14}, {'connected_gene': 'RNU4-32P', 'score': 19.44}, {'connected_gene': 'CORO1C', 'score': 17.53}, {'connected_gene': 'FICD', 'score': 15.49}, {'connected_gene': 'LOC101929162', 'score': 15.2}, {'connected_gene': 'TMEM119', 'score': 11.32}, {'connected_gene': 'RNU7-169P', 'score': 10.97}, {'connected_gene': 'LINC01498', 'score': 10.47}, {'connected_gene': 'ALKBH2', 'score': 10.34}, {'connected_gene': 'ENSG00000257221', 'score': 8.22}, {'connected_gene': 'FOXN4', 'score': 5.63}, {'connected_gene': 'MVK', 'score': 5.5}, {'connected_gene': 'ACACB', 'score': 4.69}, {'connected_gene': 'ISCU', 'score': 4.63}, {'connected_gene': 'SSH1', 'score': 1.87}, {'connected_gene': 'MIR4496', 'score': 0.77}, {'connected_gene': 'GC12P108645', 'score': 0.44}, {'connected_gene': 'GC12P108633', 'score': 0.44}, {'connected_gene': 'LOC105369968', 'score': 0.39}]
chr12	GH12I108595	108595818	108598769	1.92	[{'connected_gene': 'TMEM119', 'score': 563.16}, {'connected_gene': 'PRDM4', 'score': 10.04}, {'connected_gene': 'ISCU', 'score': 5.83}, {'connected_gene': 'GC12M108565', 'score': 0.44}]
chr12	GH12I108726	108726440	108735770	2.31	[{'connected_gene': 'CORO1C', 'score': 560.11}, {'connected_gene': 'LOC101929162', 'score': 21.77}, {'connected_gene': 'RNU4-32P', 'score': 19.39}, {'connected_gene': 'RNU7-169P', 'score': 11.01}, {'connected_gene': 'SSH1', 'score': 10.68}, {'connected_gene': 'SART3', 'score': 10.58}, {'connected_gene': 'SELPLG', 'score': 10.4}, {'connected_gene': 'UBE3B', 'score': 10.07}, {'connected_gene': 'PRDM4', 'score': 10.04}, {'connected_gene': 'ENSG00000257221', 'score': 8.16}, {'connected_gene': 'ACACB', 'score': 5.48}, {'connected_gene': 'FOXN4', 'score': 4.45}, {'connected_gene': 'LOC105369969', 'score': 0.77}, {'connected_gene': 'GC12M108717', 'score': 0.39}]
chr12	GH12I108614	108614207	108615339	0.62	[{'connected_gene': 'PWP1', 'score': 16.11}, {'connected_gene': 'SART3', 'score': 13.6}, {'connected_gene': 'ALKBH2', 'score': 12.03}, {'connected_gene': 'UBE3B', 'score': 11.91}, {'connected_gene': 'TMEM119', 'score': 11.72}, {'connected_gene': 'PRDM4', 'score': 10.94}, {'connected_gene': 'ISCU', 'score': 6.06}, {'connected_gene': 'GC12M108565', 'score': 0.44}, {'connected_gene': 'LOC105369968', 'score': 0.39}]
chr12	GH12I107514	107514736	107516718	1.01	[{'connected_gene': 'PWP1', 'score': 11.49}, {'connected_gene': 'CRY1', 'score': 10.2}, {'connected_gene': 'PRDM4', 'score': 9.86}, {'connected_gene': 'ENSG00000200897', 'score': 9.84}, {'connected_gene': 'BTBD11', 'score': 5.6}, {'connected_gene': 'RNA5SP371', 'score': 0.31}, {'connected_gene': 'ENSG00000257579', 'score': 0.15}]
chr12	GH12I107104	107104601	107104972	0.92	[{'connected_gene': 'PWP1', 'score': 11.93}, {'connected_gene': 'PRDM4', 'score': 10.08}, {'connected_gene': 'MTERF2', 'score': 9.82}, {'connected_gene': 'ENSG00000257548', 'score': 0.39}, {'connected_gene': 'CRY1', 'score': 0.39}, {'connected_gene': 'GC12M107118', 'score': 0.37}]
chr12	GH12I107747	107747246	107750276	0.78	[{'connected_gene': 'PWP1', 'score': 25.15}, {'connected_gene': 'PRDM4', 'score': 15.68}, {'connected_gene': 'ASCL4', 'score': 10.95}, {'connected_gene': 'GC12M107739', 'score': 0.44}, {'connected_gene': 'LOC101929162', 'score': 0.39}]
chr12	GH12I107057	107057263	107057412	0.79	[{'connected_gene': 'PWP1', 'score': 12.78}, {'connected_gene': 'LOC101929162', 'score': 10.4}, {'connected_gene': 'CRY1', 'score': 10.16}, {'connected_gene': 'MTERF2', 'score': 10.09}, {'connected_gene': 'PRDM4', 'score': 9.98}, {'connected_gene': 'PIR33339', 'score': 0.34}, {'connected_gene': 'ENSG00000257548', 'score': 0.28}]
chr12	GH12I107758	107758604	107762329	2.23	[{'connected_gene': 'PRDM4', 'score': 565.96}, {'connected_gene': 'PWP1', 'score': 19.39}, {'connected_gene': 'GC12M107739', 'score': 0.37}, {'connected_gene': 'LOC101929162', 'score': 0.34}]
chr12	GH12I107709	107709517	107709530	0.36	[{'connected_gene': 'PRDM4', 'score': 2.21}, {'connected_gene': 'PIR45111', 'score': 0.77}, {'connected_gene': 'PWP1', 'score': 0.34}]
chr12	GH12I107703	107703538	107704412	0.43	[{'connected_gene': 'PRDM4', 'score': 15.67}, {'connected_gene': 'PIR45111', 'score': 0.44}, {'connected_gene': 'PWP1', 'score': 0.37}]
chr12	GH12I107676	107676364	107676513	0.63	[{'connected_gene': 'PRDM4', 'score': 10.8}, {'connected_gene': 'PWP1', 'score': 0.44}, {'connected_gene': 'ENSG00000222160', 'score': 0.31}]
chr12	GH12I108611	108611381	108613801	1.22	[{'connected_gene': 'PRDM4', 'score': 10.04}, {'connected_gene': 'GC12M108565', 'score': 0.44}, {'connected_gene': 'LOC105369968', 'score': 0.37}]
chr12	GH12I108684	108684834	108698437	1.8	[{'connected_gene': 'LOC101929162', 'score': 25.33}, {'connected_gene': 'CORO1C', 'score': 20.64}, {'connected_gene': 'SART3', 'score': 14.49}, {'connected_gene': 'PRDM4', 'score': 12.36}, {'connected_gene': 'RNU7-169P', 'score': 11.59}, {'connected_gene': 'SELPLG', 'score': 11.16}, {'connected_gene': 'RNU4-32P', 'score': 10.85}, {'connected_gene': 'ALKBH2', 'score': 10.65}, {'connected_gene': 'UBE3B', 'score': 9.81}, {'connected_gene': 'ENSG00000257221', 'score': 8.09}, {'connected_gene': 'MVK', 'score': 5.53}, {'connected_gene': 'SSH1', 'score': 2.24}, {'connected_gene': 'GC12P108678', 'score': 0.39}, {'connected_gene': 'GC12P108720', 'score': 0.31}]
chr12	GH12I107735	107735833	107738313	0.86	[{'connected_gene': 'LOC101929162', 'score': 550.77}, {'connected_gene': 'PWP1', 'score': 26.13}, {'connected_gene': 'PRDM4', 'score': 15.79}, {'connected_gene': 'GC12M107739', 'score': 0.44}]
chr12	GH12I108605	108605239	108606746	0.9	[{'connected_gene': 'GC12M108565', 'score': 550.77}, {'connected_gene': 'SART3', 'score': 98.2}, {'connected_gene': 'PWP1', 'score': 79.3}, {'connected_gene': 'ALKBH2', 'score': 33.12}, {'connected_gene': 'PRDM4', 'score': 30.14}, {'connected_gene': 'RNU4-32P', 'score': 24.91}, {'connected_gene': 'LOC101929162', 'score': 22.79}, {'connected_gene': 'UBE3B', 'score': 19.49}, {'connected_gene': 'USP30', 'score': 11.96}, {'connected_gene': 'TMEM119', 'score': 10.27}, {'connected_gene': 'ISCU', 'score': 4.93}, {'connected_gene': 'LOC105369968', 'score': 0.34}]
chr12	GH12I108046	108046178	108047792	0.69	[{'connected_gene': 'PIR57656', 'score': 550.77}, {'connected_gene': 'PWP1', 'score': 16.12}, {'connected_gene': 'SART3', 'score': 14.4}, {'connected_gene': 'CRY1', 'score': 12.74}, {'connected_gene': 'PRDM4', 'score': 12.4}, {'connected_gene': 'GC12P108090', 'score': 0.26}]
chr12	GH12I108268	108268524	108268653	0.64	[{'connected_gene': 'GC12M108264', 'score': 550.77}, {'connected_gene': 'PWP1', 'score': 16.09}, {'connected_gene': 'SART3', 'score': 14.43}, {'connected_gene': 'PRDM4', 'score': 12.37}, {'connected_gene': 'ALKBH2', 'score': 10.63}, {'connected_gene': 'LOC105369965', 'score': 0.29}]
chr12	GH12I107729	107729962	107733446	0.43	[{'connected_gene': 'GC12M107733', 'score': 550.77}, {'connected_gene': 'PWP1', 'score': 26.16}, {'connected_gene': 'PRDM4', 'score': 15.76}, {'connected_gene': 'GC12M107724', 'score': 0.77}]
chr12	GH12I107784	107784297	107784955	0.43	[{'connected_gene': 'GC12P107784', 'score': 550.77}, {'connected_gene': 'PRDM4', 'score': 11.4}, {'connected_gene': 'PWP1', 'score': 4.84}, {'connected_gene': 'ASCL4', 'score': 0.39}]