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
ENST00000374877	[[78010434, 78010490], [78011921, 78011985], [78013610, 78014069], [78021077, 78021201], [78022381, 78022560], [78023704, 78023788], [78023862, 78024082], [78032292, 78032450], [78032656, 78032779], [78039283, 78039405], [78055344, 78055588], [78055674, 78055857], [78058541, 78058787], [78059801, 78060015], [78061405, 78061575], [78061809, 78061901], [78063562, 78063683], [78063937, 78064198]]	[[78010461, 78010490], [78011921, 78011985], [78013610, 78014069], [78021077, 78021201], [78022381, 78022560], [78023704, 78023788], [78023862, 78024082], [78032292, 78032450], [78032656, 78032779], [78039283, 78039405], [78055344, 78055588], [78055674, 78055857], [78058541, 78058787], [78059801, 78060015], [78061405, 78061575], [78061809, 78061901], [78063562, 78063683], [78063937, 78064198]]
ENST00000397545	[[78010434, 78010490], [78011921, 78011985], [78013610, 78014069], [78021077, 78021201], [78022381, 78022560], [78023704, 78023788], [78023862, 78024082], [78032292, 78032450], [78032656, 78032779], [78039283, 78039405], [78055344, 78055588], [78055674, 78055857], [78058541, 78058787], [78059801, 78060015], [78061405, 78061575], [78061809, 78061901], [78063562, 78063683], [78069061, 78069250], [78071043, 78071202], [78073325, 78074412]]	[[78010461, 78010490], [78011921, 78011985], [78013610, 78014069], [78021077, 78021201], [78022381, 78022560], [78023704, 78023788], [78023862, 78024082], [78032292, 78032450], [78032656, 78032779], [78039283, 78039405], [78055344, 78055588], [78055674, 78055857], [78058541, 78058787], [78059801, 78060015], [78061405, 78061575], [78061809, 78061901], [78063562, 78063683], [78069061, 78069250], [78071043, 78071202], [78073325, 78073574]]
ENST00000572270	[[78010450, 78010556], [78013610, 78013964]]	None
ENST00000269318	[[78010450, 78010490], [78011921, 78011985], [78013610, 78014069], [78021077, 78021201], [78022381, 78022560], [78023704, 78023788], [78023862, 78024082], [78032292, 78032450], [78032656, 78032779], [78039283, 78039405], [78041303, 78041700]]	[[78010461, 78010490], [78011921, 78011985], [78013610, 78014069], [78021077, 78021201], [78022381, 78022560], [78023704, 78023788], [78023862, 78024082], [78032292, 78032450], [78032656, 78032779], [78039283, 78039405], [78041303, 78041481]]
ENST00000374876	[[78010456, 78010490], [78011921, 78011985], [78013610, 78014069], [78021077, 78021201], [78022381, 78022560], [78023704, 78023788], [78023862, 78024082], [78032292, 78032450], [78039881, 78040569]]	[[78010461, 78010490], [78011921, 78011985], [78013610, 78014069], [78021077, 78021201], [78022381, 78022560], [78023704, 78023788], [78023862, 78024082], [78032292, 78032450], [78039881, 78040001]]
ENST00000576033	[[78010459, 78010490], [78011750, 78011827], [78011921, 78011985], [78013610, 78013904]]	[[78011982, 78011985], [78013610, 78013904]]
ENST00000574099	[[78010459, 78010556], [78011921, 78011985], [78013610, 78013986]]	[[78011982, 78011985], [78013610, 78013986]]
ENST00000572083	[[78010462, 78010490], [78011921, 78011985], [78013610, 78014334]]	None
ENST00000576241	[[78010475, 78010490], [78011921, 78011985], [78013610, 78014069], [78021077, 78021253]]	None
ENST00000573474	[[78013803, 78013839], [78021107, 78021201], [78022381, 78022560], [78023704, 78023788], [78023862, 78024023]]	[[78013803, 78013839], [78021107, 78021201], [78022381, 78022508]]
ENST00000574799	[[78022168, 78022560], [78023704, 78023788], [78023862, 78024082], [78032292, 78032450], [78032656, 78032779], [78039283, 78039405], [78055344, 78055588], [78055674, 78055857], [78058541, 78058787], [78059801, 78060015], [78061405, 78061575], [78061809, 78061901], [78063562, 78063683], [78069061, 78069250], [78071043, 78071202], [78073325, 78074403]]	None
ENST00000571028	[[78032723, 78032779], [78039283, 78039405], [78040672, 78041087]]	[[78032723, 78032779], [78039283, 78039405], [78040672, 78040745]]
ENST00000572253	[[78055241, 78055857], [78058541, 78058787], [78059801, 78061901], [78063562, 78063683], [78069061, 78069250], [78071043, 78071733]]	None
ENST00000575431	[[78061312, 78061575], [78061809, 78061901], [78063562, 78063683], [78069061, 78069136]]	None
ENST00000574933	[[78061501, 78061625], [78061809, 78062011]]	None
ENST00000573903	[[78061903, 78061988], [78062095, 78062193], [78063372, 78063683], [78065877, 78065944]]	None
NM_001330508	[[78010430, 78010490], [78011921, 78011985], [78013610, 78014069], [78021077, 78021201], [78022381, 78022560], [78023704, 78023788], [78023862, 78024082], [78032292, 78032450], [78032656, 78032779], [78039283, 78039405], [78041303, 78043216]]	[[78010461, 78010490], [78011921, 78011985], [78013610, 78014069], [78021077, 78021201], [78022381, 78022560], [78023704, 78023788], [78023862, 78024082], [78032292, 78032450], [78032656, 78032779], [78039283, 78039405], [78041303, 78041481]]
NM_001243342	[[78010430, 78010490], [78011921, 78011985], [78013610, 78014069], [78021077, 78021201], [78022381, 78022560], [78023704, 78023788], [78023862, 78024082], [78032292, 78032450], [78032656, 78032779], [78039283, 78039405], [78055344, 78055588], [78055674, 78055857], [78058541, 78058787], [78059801, 78060015], [78061405, 78061575], [78061809, 78061901], [78063562, 78063683], [78063937, 78064621]]	[[78010461, 78010490], [78011921, 78011985], [78013610, 78014069], [78021077, 78021201], [78022381, 78022560], [78023704, 78023788], [78023862, 78024082], [78032292, 78032450], [78032656, 78032779], [78039283, 78039405], [78055344, 78055588], [78055674, 78055857], [78058541, 78058787], [78059801, 78060015], [78061405, 78061575], [78061809, 78061901], [78063562, 78063683], [78063937, 78064198]]
NM_017950	[[78010430, 78010490], [78011921, 78011985], [78013610, 78014069], [78021077, 78021201], [78022381, 78022560], [78023704, 78023788], [78023862, 78024082], [78032292, 78032450], [78032656, 78032779], [78039283, 78039405], [78055344, 78055588], [78055674, 78055857], [78058541, 78058787], [78059801, 78060015], [78061405, 78061575], [78061809, 78061901], [78063562, 78063683], [78069061, 78069250], [78071043, 78071202], [78073325, 78074412]]	[[78010461, 78010490], [78011921, 78011985], [78013610, 78014069], [78021077, 78021201], [78022381, 78022560], [78023704, 78023788], [78023862, 78024082], [78032292, 78032450], [78032656, 78032779], [78039283, 78039405], [78055344, 78055588], [78055674, 78055857], [78058541, 78058787], [78059801, 78060015], [78061405, 78061575], [78061809, 78061901], [78063562, 78063683], [78069061, 78069250], [78071043, 78071202], [78073325, 78073574]]

Promoter

Chrom	Start	End	Description
chr17	78010428	78010465	CAGE_peak_1_at_CCDC40_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I079984	79984528	79995585	2.3	[{'connected_gene': 'EIF4A3', 'score': 25.29}, {'connected_gene': 'CCDC40', 'score': 23.25}, {'connected_gene': 'ENGASE', 'score': 14.06}, {'connected_gene': 'CBX2', 'score': 13.73}, {'connected_gene': 'TBC1D16', 'score': 11.96}, {'connected_gene': 'LOC100294362', 'score': 11.2}, {'connected_gene': 'ENDOV', 'score': 10.82}, {'connected_gene': 'SGSH', 'score': 9.93}, {'connected_gene': 'CANT1', 'score': 9.69}, {'connected_gene': 'ENSG00000262580', 'score': 5.5}, {'connected_gene': 'CBX4', 'score': 3.89}, {'connected_gene': 'CBX8', 'score': 2.16}, {'connected_gene': 'GAA', 'score': 1.26}, {'connected_gene': 'RNF213', 'score': 1.14}, {'connected_gene': 'ENSG00000262172', 'score': 0.77}, {'connected_gene': 'GC17P079977', 'score': 0.39}]
chr17	GH17I080018	80018700	80020871	1.04	[{'connected_gene': 'EIF4A3', 'score': 11.14}, {'connected_gene': 'CCDC40', 'score': 8.2}, {'connected_gene': 'GAA', 'score': 4.95}, {'connected_gene': 'ENSG00000261978', 'score': 0.77}, {'connected_gene': 'PIR44772', 'score': 0.39}, {'connected_gene': 'GC17P080013', 'score': 0.39}, {'connected_gene': 'TBC1D16', 'score': 0.37}]
chr17	GH17I080082	80082354	80083408	0.92	[{'connected_gene': 'EIF4A3', 'score': 11.86}, {'connected_gene': 'GAA', 'score': 11.84}, {'connected_gene': 'CARD14', 'score': 5.19}, {'connected_gene': 'MIR1268B', 'score': 0.37}, {'connected_gene': 'GC17P080040', 'score': 0.26}, {'connected_gene': 'CCDC40', 'score': 0.25}]
chr17	GH17I080068	80068338	80072096	1.13	[{'connected_gene': 'EIF4A3', 'score': 26.37}, {'connected_gene': 'GAA', 'score': 25.87}, {'connected_gene': 'CCDC40', 'score': 20.41}, {'connected_gene': 'TBC1D16', 'score': 12.58}, {'connected_gene': 'CBX2', 'score': 9.87}, {'connected_gene': 'MIR1268B', 'score': 0.31}, {'connected_gene': 'GC17P080040', 'score': 0.31}]
chr17	GH17I079835	79835510	79847030	2.59	[{'connected_gene': 'CBX4', 'score': 550.77}, {'connected_gene': 'USP36', 'score': 19.6}, {'connected_gene': 'CCDC40', 'score': 11.62}, {'connected_gene': 'LOC100294362', 'score': 11.19}, {'connected_gene': 'ENDOV', 'score': 10.8}, {'connected_gene': 'CBX8', 'score': 5.01}, {'connected_gene': 'ENSG00000262343', 'score': 0.44}]
chr17	GH17I079830	79830457	79833869	1.4	[{'connected_gene': 'USP36', 'score': 20.3}, {'connected_gene': 'CCDC40', 'score': 11.62}, {'connected_gene': 'LOC100294362', 'score': 11.19}, {'connected_gene': 'ENDOV', 'score': 10.8}, {'connected_gene': 'CBX8', 'score': 5.38}, {'connected_gene': 'LINC01977', 'score': 0.44}, {'connected_gene': 'CBX4', 'score': 0.44}]
chr17	GH17I079808	79808561	79816578	1.82	[{'connected_gene': 'CBX8', 'score': 15.99}, {'connected_gene': 'EIF4A3', 'score': 15.49}, {'connected_gene': 'CBX2', 'score': 13.41}, {'connected_gene': 'CBX4', 'score': 12.04}, {'connected_gene': 'USP36', 'score': 10.16}, {'connected_gene': 'ENGASE', 'score': 9.73}, {'connected_gene': 'CCDC40', 'score': 4.97}, {'connected_gene': 'PIR54271', 'score': 0.77}, {'connected_gene': 'LOC102723961', 'score': 0.77}]
chr17	GH17I079802	79802711	79803099	1.3	[{'connected_gene': 'CBX8', 'score': 550.77}, {'connected_gene': 'CCDC40', 'score': 1.18}, {'connected_gene': 'PIR54271', 'score': 0.39}]
chr17	GH17I079996	79996188	79998467	1.11	[{'connected_gene': 'CCDC40', 'score': 6.69}, {'connected_gene': 'EIF4A3', 'score': 5.17}, {'connected_gene': 'ENGASE', 'score': 4.77}, {'connected_gene': 'RNF213', 'score': 4.57}, {'connected_gene': 'GAA', 'score': 3.46}, {'connected_gene': 'CBX4', 'score': 2.59}, {'connected_gene': 'SGSH', 'score': 2.54}, {'connected_gene': 'ENSG00000262172', 'score': 0.77}, {'connected_gene': 'PIR41919', 'score': 0.44}, {'connected_gene': 'TBC1D16', 'score': 0.28}]
chr17	GH17I080028	80028168	80031655	1.2	[{'connected_gene': 'CCDC40', 'score': 37.58}, {'connected_gene': 'EIF4A3', 'score': 10.64}, {'connected_gene': 'TBC1D16', 'score': 5.89}, {'connected_gene': 'GAA', 'score': 5.73}, {'connected_gene': 'ENSG00000262580', 'score': 5.1}, {'connected_gene': 'ENSG00000261978', 'score': 0.44}]
chr17	GH17I080064	80064091	80064860	1.03	[{'connected_gene': 'CCDC40', 'score': 13.6}, {'connected_gene': 'CARD14', 'score': 11.46}, {'connected_gene': 'EIF4A3', 'score': 11.23}, {'connected_gene': 'TBC1D16', 'score': 5.12}, {'connected_gene': 'GC17P080040', 'score': 0.34}, {'connected_gene': 'MIR1268B', 'score': 0.29}]
chr17	GH17I079294	79294599	79294748	0.93	[{'connected_gene': 'CCDC40', 'score': 10.49}, {'connected_gene': 'USP36', 'score': 9.72}, {'connected_gene': 'GC17M079269', 'score': 0.34}, {'connected_gene': 'GC17P079350', 'score': 0.22}, {'connected_gene': 'RBFOX3', 'score': 0.06}]
chr17	GH17I079183	79183459	79183648	0.96	[{'connected_gene': 'CCDC40', 'score': 11.57}, {'connected_gene': 'GC17P079166', 'score': 0.37}, {'connected_gene': 'PIR62880', 'score': 0.34}, {'connected_gene': 'RBFOX3', 'score': 0.04}]
chr17	GH17I080034	80034689	80037498	2.21	[{'connected_gene': 'CCDC40', 'score': 590.38}, {'connected_gene': 'TBC1D16', 'score': 566.49}, {'connected_gene': 'GAA', 'score': 11.29}]
chr17	GH17I080109	80109722	80109891	0.46	[{'connected_gene': 'GAA', 'score': 39.52}, {'connected_gene': 'EIF4A3', 'score': 11.91}, {'connected_gene': 'CARD14', 'score': 11.68}, {'connected_gene': 'TBC1D16', 'score': 11.15}, {'connected_gene': 'CCDC40', 'score': 11.15}, {'connected_gene': 'GC17M080103', 'score': 0.77}, {'connected_gene': 'GC17P080128', 'score': 0.37}]
chr17	GH17I080092	80092001	80093407	0.31	[{'connected_gene': 'GAA', 'score': 17.71}, {'connected_gene': 'EIF4A3', 'score': 11.89}, {'connected_gene': 'CARD14', 'score': 11.77}, {'connected_gene': 'ENSG00000262580', 'score': 5.45}, {'connected_gene': 'MIR1268B', 'score': 0.44}, {'connected_gene': 'GC17P080040', 'score': 0.23}, {'connected_gene': 'CCDC40', 'score': 0.22}]
chr17	GH17I080065	80065271	80066380	0.31	[{'connected_gene': 'GAA', 'score': 19.86}, {'connected_gene': 'CARD14', 'score': 11.47}, {'connected_gene': 'EIF4A3', 'score': 11.23}, {'connected_gene': 'TBC1D16', 'score': 6.63}, {'connected_gene': 'GC17P080040', 'score': 0.31}, {'connected_gene': 'CCDC40', 'score': 0.31}, {'connected_gene': 'MIR1268B', 'score': 0.29}]
chr17	GH17I080063	80063903	80064051	0.46	[{'connected_gene': 'GAA', 'score': 13.2}, {'connected_gene': 'GC17P080040', 'score': 0.34}, {'connected_gene': 'CCDC40', 'score': 0.31}, {'connected_gene': 'MIR1268B', 'score': 0.29}]
chr17	GH17I080100	80100562	80103502	2	[{'connected_gene': 'GAA', 'score': 592.6}, {'connected_gene': 'GC17M080103', 'score': 0.77}, {'connected_gene': 'CCDC40', 'score': 0.2}]
chr17	GH17I080822	80822989	80822997	0.79	[{'connected_gene': 'CEP131', 'score': 36.13}, {'connected_gene': 'ENSG00000262877', 'score': 21.38}, {'connected_gene': 'CCDC40', 'score': 11.57}, {'connected_gene': 'LOC100294362', 'score': 11.2}, {'connected_gene': 'HGS', 'score': 11.19}, {'connected_gene': 'RPTOR', 'score': 11.0}, {'connected_gene': 'ENDOV', 'score': 10.82}, {'connected_gene': 'LOC100130370', 'score': 10.41}, {'connected_gene': 'TEPSIN', 'score': 9.86}, {'connected_gene': 'FAAP100', 'score': 9.84}, {'connected_gene': 'ENSG00000229848', 'score': 9.75}, {'connected_gene': 'LOC101928855', 'score': 0.37}, {'connected_gene': 'LOC105371921', 'score': 0.2}]
chr17	GH17I080186	80186821	80188691	0.77	[{'connected_gene': 'LOC100294362', 'score': 10.83}, {'connected_gene': 'GAA', 'score': 7.43}, {'connected_gene': 'ENSG00000262580', 'score': 7.36}, {'connected_gene': 'CCDC40', 'score': 4.62}, {'connected_gene': 'GC17P080181', 'score': 0.44}, {'connected_gene': 'CARD14', 'score': 0.37}]
chr17	GH17I080958	80958598	80962964	1.03	[{'connected_gene': 'ENSG00000262662', 'score': 550.77}, {'connected_gene': 'CHMP6', 'score': 17.07}, {'connected_gene': 'CEP131', 'score': 14.76}, {'connected_gene': 'LOC100294362', 'score': 14.24}, {'connected_gene': 'ENDOV', 'score': 12.96}, {'connected_gene': 'RPTOR', 'score': 10.87}, {'connected_gene': 'ARL16', 'score': 10.85}, {'connected_gene': 'CCDC40', 'score': 10.49}, {'connected_gene': 'ENSG00000262877', 'score': 10.46}, {'connected_gene': 'ENSG00000262313', 'score': 0.37}]
chr17	GH17I080022	80022855	80027076	1.33	[{'connected_gene': 'ENSG00000261978', 'score': 550.77}, {'connected_gene': 'CCDC40', 'score': 33.77}, {'connected_gene': 'EIF4A3', 'score': 25.89}, {'connected_gene': 'GAA', 'score': 11.13}, {'connected_gene': 'CHMP6', 'score': 10.27}, {'connected_gene': 'TBC1D16', 'score': 5.49}]
chr17	GH17I080005	80005422	80006772	1.5	[{'connected_gene': 'PIR51050', 'score': 550.77}, {'connected_gene': 'PIR50563', 'score': 550.77}, {'connected_gene': 'PIR41919', 'score': 550.77}, {'connected_gene': 'GC17P080012', 'score': 550.77}, {'connected_gene': 'PIR38024', 'score': 550.77}, {'connected_gene': 'GC17P080014', 'score': 550.77}, {'connected_gene': 'GC17P080015', 'score': 550.77}, {'connected_gene': 'CCDC40', 'score': 5.72}, {'connected_gene': 'ENGASE', 'score': 5.04}, {'connected_gene': 'TBC1D16', 'score': 0.31}]
chr17	GH17I080049	80049485	80049579	0.22	[{'connected_gene': 'GC17P080040', 'score': 0.44}, {'connected_gene': 'CCDC40', 'score': 0.39}, {'connected_gene': 'MIR1268B', 'score': 0.25}]
chr17	GH17I080053	80053942	80053977	0.38	[{'connected_gene': 'GC17P080040', 'score': 0.39}, {'connected_gene': 'CCDC40', 'score': 0.37}, {'connected_gene': 'MIR1268B', 'score': 0.26}]
chr17	GH17I080528	80528473	80530571	0.43	[{'connected_gene': 'ENSG00000262877', 'score': 11.79}, {'connected_gene': 'CCDC40', 'score': 11.58}, {'connected_gene': 'LOC100294362', 'score': 11.29}, {'connected_gene': 'ENDOV', 'score': 10.91}, {'connected_gene': 'CEP131', 'score': 9.96}, {'connected_gene': 'RPTOR', 'score': 6.71}, {'connected_gene': 'RNF213', 'score': 6.2}, {'connected_gene': 'ENSG00000271340', 'score': 0.39}, {'connected_gene': 'RPL32P31', 'score': 0.39}, {'connected_gene': 'GC17P080548', 'score': 0.39}]
chr17	GH17I079948	79948470	79953634	1.62	[{'connected_gene': 'ENSG00000275516', 'score': 550.77}, {'connected_gene': 'TBC1D16', 'score': 550.18}, {'connected_gene': 'LOC100294362', 'score': 14.26}, {'connected_gene': 'ENDOV', 'score': 12.97}, {'connected_gene': 'CBX4', 'score': 11.3}, {'connected_gene': 'CBX2', 'score': 11.27}, {'connected_gene': 'CCDC40', 'score': 10.63}, {'connected_gene': 'PIR49167', 'score': 0.77}, {'connected_gene': 'GC17P079941', 'score': 0.44}]