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
ENST00000381911	[[1860218, 1860263], [1860904, 1860934], [1861078, 1861085], [1861632, 1861674], [1861757, 1861886], [1862048, 1862138], [1862260, 1862437], [1862685, 1862908]]	[[1860926, 1860934], [1861078, 1861085], [1861632, 1861674], [1861757, 1861886], [1862048, 1862138], [1862260, 1862437], [1862685, 1862781]]
ENST00000381906	[[1860710, 1860757], [1860904, 1860934], [1861078, 1861085], [1861632, 1861674], [1861757, 1861886], [1862048, 1862138], [1862260, 1862437], [1862685, 1862908]]	[[1860926, 1860934], [1861078, 1861085], [1861632, 1861674], [1861757, 1861886], [1862048, 1862138], [1862260, 1862437], [1862685, 1862781]]
ENST00000252898	[[1860926, 1860934], [1861078, 1861085], [1861632, 1861674], [1861757, 1861886], [1862048, 1862138], [1862260, 1862437], [1862685, 1862910]]	[[1860926, 1860934], [1861078, 1861085], [1861632, 1861674], [1861757, 1861886], [1862048, 1862138], [1862260, 1862437], [1862685, 1862781]]
ENST00000381905	[[1861423, 1861468], [1861632, 1861674], [1861757, 1861886], [1862048, 1862138], [1862260, 1862437], [1862685, 1862908]]	[[1861453, 1861468], [1861632, 1861674], [1861757, 1861886], [1862048, 1862138], [1862260, 1862437], [1862685, 1862781]]
ENST00000468473	[[1861447, 1861674], [1861757, 1861965]]	None
NM_003282	[[1860232, 1860263], [1860904, 1860934], [1861078, 1861085], [1861632, 1861674], [1861757, 1861886], [1862048, 1862138], [1862260, 1862437], [1862685, 1862910]]	[[1860926, 1860934], [1861078, 1861085], [1861632, 1861674], [1861757, 1861886], [1862048, 1862138], [1862260, 1862437], [1862685, 1862781]]
NM_001145829	[[1860718, 1860757], [1860904, 1860934], [1861078, 1861085], [1861632, 1861674], [1861757, 1861886], [1862048, 1862138], [1862260, 1862437], [1862685, 1862910]]	[[1860926, 1860934], [1861078, 1861085], [1861632, 1861674], [1861757, 1861886], [1862048, 1862138], [1862260, 1862437], [1862685, 1862781]]
NM_001145841	[[1861431, 1861468], [1861632, 1861674], [1861757, 1861886], [1862048, 1862138], [1862260, 1862437], [1862685, 1862910]]	[[1861453, 1861468], [1861632, 1861674], [1861757, 1861886], [1862048, 1862138], [1862260, 1862437], [1862685, 1862781]]

Promoter

Chrom	Start	End	Description
chr11	1860200	1860218	CAGE_peak_1_at_TNNI2_5end
chr11	1860624	1860629	CAGE_peak_11_at_TNNI2_5end
chr11	1860671	1860678	CAGE_peak_9_at_TNNI2_5end
chr11	1860682	1860726	CAGE_peak_3_at_TNNI2_5end
chr11	1860832	1860856	CAGE_peak_5_at_TNNI2_5end
chr11	1861376	1861396	CAGE_peak_4_at_TNNI2_5end
chr11	1861399	1861466	CAGE_peak_2_at_TNNI2_5end
chr11	1861476	1861488	CAGE_peak_7_at_TNNI2_5end
chr11	1861626	1861651	CAGE_peak_6_at_TNNI2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I001768	1768571	1769449	0.87	[{'connected_gene': 'SYT8', 'score': 11.4}, {'connected_gene': 'TNNI2', 'score': 11.38}, {'connected_gene': 'KRTAP5-6', 'score': 11.06}, {'connected_gene': 'LOC100505570', 'score': 11.04}, {'connected_gene': 'FAM99B', 'score': 11.04}, {'connected_gene': 'CTSD', 'score': 0.77}, {'connected_gene': 'LOC105376517', 'score': 0.44}]
chr11	GH11I001825	1825794	1836210	2.13	[{'connected_gene': 'SYT8', 'score': 556.54}, {'connected_gene': 'GC11P001831', 'score': 550.77}, {'connected_gene': 'KRTAP5-3', 'score': 2.07}, {'connected_gene': 'KRTAP5-5', 'score': 1.6}, {'connected_gene': 'TNNI2', 'score': 0.44}]
chr11	GH11I002003	2003873	2005329	0.64	[{'connected_gene': 'TNNI2', 'score': 11.25}, {'connected_gene': 'SYT8', 'score': 11.24}, {'connected_gene': 'KRTAP5-6', 'score': 10.91}, {'connected_gene': 'FAM99B', 'score': 10.91}, {'connected_gene': 'LOC100505570', 'score': 10.91}, {'connected_gene': 'MRPL23-AS1', 'score': 10.46}, {'connected_gene': 'H19', 'score': 0.77}, {'connected_gene': 'PIR50683', 'score': 0.77}, {'connected_gene': 'MRPL23', 'score': 0.22}]
chr11	GH11I001836	1836230	1836692	0.2	[{'connected_gene': 'TNNI2', 'score': 0.77}, {'connected_gene': 'SYT8', 'score': 0.44}, {'connected_gene': 'GC11P001831', 'score': 0.44}]
chr11	GH11I001915	1915425	1915812	0.47	[{'connected_gene': 'TNNI2', 'score': 6.61}, {'connected_gene': 'LSP1', 'score': 6.61}, {'connected_gene': 'C11orf21', 'score': 3.38}, {'connected_gene': 'TSPAN32', 'score': 2.0}, {'connected_gene': 'TSSC4', 'score': 1.38}, {'connected_gene': 'TNNT3', 'score': 0.77}, {'connected_gene': 'LINC01150', 'score': 0.37}]
chr11	GH11I001837	1837097	1846599	2.24	[{'connected_gene': 'TNNI2', 'score': 567.4}, {'connected_gene': 'IFITM10', 'score': 10.37}, {'connected_gene': 'LSP1', 'score': 10.25}, {'connected_gene': 'LINC01219', 'score': 4.47}, {'connected_gene': 'C11orf21', 'score': 1.79}, {'connected_gene': 'SYT8', 'score': 0.39}, {'connected_gene': 'GC11P001831', 'score': 0.39}]
chr11	GH11I001810	1810601	1811400	0.38	[{'connected_gene': 'TNNI2', 'score': 12.89}, {'connected_gene': 'ENSG00000229512', 'score': 11.99}, {'connected_gene': 'CTSD', 'score': 11.99}, {'connected_gene': 'ENSG00000250644', 'score': 11.99}, {'connected_gene': 'ENSG00000235027', 'score': 11.97}, {'connected_gene': 'IFITM10', 'score': 11.87}, {'connected_gene': 'MRPL23-AS1', 'score': 11.28}, {'connected_gene': 'LINC01219', 'score': 11.27}, {'connected_gene': 'H19', 'score': 11.26}, {'connected_gene': 'KRTAP5-6', 'score': 11.17}, {'connected_gene': 'FAM99B', 'score': 11.16}, {'connected_gene': 'LOC100505570', 'score': 11.16}, {'connected_gene': 'LOC390029', 'score': 0.44}, {'connected_gene': 'SYT8', 'score': 0.37}]
chr11	GH11I001770	1770041	1773855	1.65	[{'connected_gene': 'SNORA52', 'score': 26.44}, {'connected_gene': 'TSPAN4', 'score': 25.02}, {'connected_gene': 'PIDD1', 'score': 22.73}, {'connected_gene': 'IFITM10', 'score': 17.91}, {'connected_gene': 'TNNI2', 'score': 17.45}, {'connected_gene': 'ENSG00000255142', 'score': 12.46}, {'connected_gene': 'SYT8', 'score': 11.4}, {'connected_gene': 'KRTAP5-6', 'score': 11.06}, {'connected_gene': 'LOC100505570', 'score': 11.04}, {'connected_gene': 'FAM99B', 'score': 11.03}, {'connected_gene': 'RPLP2', 'score': 10.43}, {'connected_gene': 'TSSC4', 'score': 10.31}, {'connected_gene': 'RPL26P30', 'score': 10.1}, {'connected_gene': 'LSP1', 'score': 9.87}, {'connected_gene': 'ENSG00000235027', 'score': 7.01}, {'connected_gene': 'TOLLIP', 'score': 2.08}, {'connected_gene': 'CTSD', 'score': 1.83}, {'connected_gene': 'MOB2', 'score': 1.45}, {'connected_gene': 'LOC105376517', 'score': 0.44}]
chr11	GH11I001769	1769491	1769640	0.71	[{'connected_gene': 'PIDD1', 'score': 27.76}, {'connected_gene': 'SNORA52', 'score': 15.21}, {'connected_gene': 'SYT8', 'score': 11.4}, {'connected_gene': 'TNNI2', 'score': 11.38}, {'connected_gene': 'KRTAP5-6', 'score': 11.06}, {'connected_gene': 'FAM99B', 'score': 11.04}, {'connected_gene': 'LOC100505570', 'score': 11.04}, {'connected_gene': 'TSPAN4', 'score': 11.04}, {'connected_gene': 'RPL26P30', 'score': 10.72}, {'connected_gene': 'ENSG00000255142', 'score': 10.18}, {'connected_gene': 'KCNQ1OT1', 'score': 9.68}, {'connected_gene': 'CTSD', 'score': 0.77}, {'connected_gene': 'LOC105376517', 'score': 0.44}]
chr11	GH11I001771	1769859	1769920	0.77	[{'connected_gene': 'PIDD1', 'score': 27.76}, {'connected_gene': 'SNORA52', 'score': 15.21}, {'connected_gene': 'SYT8', 'score': 11.4}, {'connected_gene': 'TNNI2', 'score': 11.38}, {'connected_gene': 'KRTAP5-6', 'score': 11.06}, {'connected_gene': 'FAM99B', 'score': 11.04}, {'connected_gene': 'LOC100505570', 'score': 11.04}, {'connected_gene': 'TSPAN4', 'score': 11.04}, {'connected_gene': 'RPL26P30', 'score': 10.72}, {'connected_gene': 'ENSG00000255142', 'score': 10.18}, {'connected_gene': 'KCNQ1OT1', 'score': 9.68}, {'connected_gene': 'LOC105376517', 'score': 0.44}, {'connected_gene': 'CTSD', 'score': 0.44}]
chr11	GH11I001871	1870401	1872681	1.36	[{'connected_gene': 'LSP1', 'score': 556.04}, {'connected_gene': 'TNNT3', 'score': 12.54}, {'connected_gene': 'TNNI2', 'score': 11.72}, {'connected_gene': 'SYT8', 'score': 11.69}, {'connected_gene': 'GC11P001865', 'score': 0.44}, {'connected_gene': 'MIR7847', 'score': 0.44}, {'connected_gene': 'GC11P001831', 'score': 0.26}]
chr11	GH11I001780	1780590	1783999	1.55	[{'connected_gene': 'LSP1', 'score': 13.79}, {'connected_gene': 'TNNI2', 'score': 10.2}, {'connected_gene': 'ENSG00000250397', 'score': 5.31}, {'connected_gene': 'SYT8', 'score': 5.12}, {'connected_gene': 'TOLLIP', 'score': 1.84}, {'connected_gene': 'LOC105376517', 'score': 0.77}, {'connected_gene': 'RPL36AP39', 'score': 0.39}]
chr11	GH11I001848	1848202	1849030	0.94	[{'connected_gene': 'LSP1', 'score': 0.77}, {'connected_gene': 'TNNI2', 'score': 0.44}, {'connected_gene': 'GC11P001831', 'score': 0.37}]
chr11	GH11I001849	1849656	1855952	2.35	[{'connected_gene': 'LSP1', 'score': 566.13}, {'connected_gene': 'KCNQ1OT1', 'score': 9.68}, {'connected_gene': 'TNNI2', 'score': 8.56}, {'connected_gene': 'TNNT3', 'score': 5.32}, {'connected_gene': 'H19', 'score': 5.27}, {'connected_gene': 'C11orf21', 'score': 2.92}, {'connected_gene': 'TSPAN32', 'score': 1.84}, {'connected_gene': 'IGF2', 'score': 1.36}, {'connected_gene': 'GC11P001831', 'score': 0.34}]
chr11	GH11I001545	1545734	1549956	1.53	[{'connected_gene': 'KRTAP5-AS1', 'score': 20.26}, {'connected_gene': 'MOB2', 'score': 9.21}, {'connected_gene': 'TNNI2', 'score': 2.8}, {'connected_gene': 'TNNT3', 'score': 2.28}, {'connected_gene': 'BRSK2', 'score': 1.6}, {'connected_gene': 'DUSP8', 'score': 1.59}, {'connected_gene': 'KRTAP5-3', 'score': 1.53}, {'connected_gene': 'LOC101927562', 'score': 0.44}, {'connected_gene': 'GC11P001533', 'score': 0.39}]
chr11	GH11I002001	2001378	2003100	0.89	[{'connected_gene': 'H19', 'score': 550.77}, {'connected_gene': 'TNNI2', 'score': 11.24}, {'connected_gene': 'SYT8', 'score': 11.24}, {'connected_gene': 'KRTAP5-6', 'score': 10.91}, {'connected_gene': 'LOC100505570', 'score': 10.91}, {'connected_gene': 'FAM99B', 'score': 10.91}, {'connected_gene': 'PIR50683', 'score': 0.77}, {'connected_gene': 'MRPL23', 'score': 0.23}]
chr11	GH11I001850	1849053	1849283	0.5	[{'connected_gene': 'CTSD', 'score': 2.02}, {'connected_gene': 'MOB2', 'score': 1.9}, {'connected_gene': 'LSP1', 'score': 0.77}, {'connected_gene': 'TNNI2', 'score': 0.39}, {'connected_gene': 'GC11P001831', 'score': 0.37}]
chr11	GH11I001914	1914659	1914984	0.39	[{'connected_gene': 'MRPL23-AS1', 'score': 8.27}, {'connected_gene': 'TNNT3', 'score': 4.56}, {'connected_gene': 'TNNI2', 'score': 2.5}, {'connected_gene': 'KRTAP5-3', 'score': 2.08}, {'connected_gene': 'IGF2', 'score': 1.59}, {'connected_gene': 'LINC01150', 'score': 0.37}]
chr11	GH11I001962	1962482	1972699	1.99	[{'connected_gene': 'MRPL23-AS1', 'score': 17.72}, {'connected_gene': 'IGF2', 'score': 7.76}, {'connected_gene': 'TH', 'score': 5.64}, {'connected_gene': 'TNNI2', 'score': 2.17}, {'connected_gene': 'TNNT3', 'score': 1.6}, {'connected_gene': 'TSSC4', 'score': 1.53}, {'connected_gene': 'SYT8', 'score': 1.26}, {'connected_gene': 'GC11P001973', 'score': 0.44}, {'connected_gene': 'GC11P001949', 'score': 0.37}, {'connected_gene': 'MRPL23', 'score': 0.34}]
chr11	GH11I002076	2076611	2078442	0.82	[{'connected_gene': 'GC11P002077', 'score': 550.77}, {'connected_gene': 'MIR483', 'score': 11.41}, {'connected_gene': 'IGF2-AS', 'score': 11.34}, {'connected_gene': 'IGF2', 'score': 11.32}, {'connected_gene': 'SYT8', 'score': 9.85}, {'connected_gene': 'TNNI2', 'score': 9.85}, {'connected_gene': 'GC11M002043', 'score': 0.29}]