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
ENST00000340811	[[32943678, 32945426], [32945577, 32945665], [32949042, 32949232], [32955336, 32955490], [32974289, 32974463], [32975400, 32975565], [32976978, 32977096], [32993961, 32994139], [33003699, 33003907], [33021860, 33021996], [33030779, 33031477], [33031853, 33031966], [33049442, 33049774]]	[[32945357, 32945426], [32945577, 32945665], [32949042, 32949232], [32955336, 32955490], [32974289, 32974463], [32975400, 32975565], [32976978, 32977096], [32993961, 32994139], [33003699, 33003907], [33021860, 33021996], [33030779, 33031477], [33031853, 33031966], [33049442, 33049665]]
ENST00000070846	[[32943787, 32945426], [32945577, 32945665], [32949042, 32949232], [32955336, 32955490], [32974289, 32974463], [32975400, 32975565], [32976978, 32977096], [32993961, 32994139], [32996115, 32996247], [33003699, 33003907], [33021860, 33021996], [33030779, 33031477], [33031853, 33031966], [33049442, 33049690]]	[[32945357, 32945426], [32945577, 32945665], [32949042, 32949232], [32955336, 32955490], [32974289, 32974463], [32975400, 32975565], [32976978, 32977096], [32993961, 32994139], [32996115, 32996247], [33003699, 33003907], [33021860, 33021996], [33030779, 33031477], [33031853, 33031966], [33049442, 33049665]]
ENST00000546769	[[32944876, 32945426], [32945577, 32945809]]	None
ENST00000549461	[[32955383, 32955490], [32974289, 32974748]]	None
ENST00000552612	[[32973822, 32974463], [32975400, 32975565], [32976978, 32977073]]	None
ENST00000546498	[[32974400, 32974463], [32975400, 32975565], [32976978, 32977339]]	None
ENST00000546741	[[33047216, 33047712], [33049442, 33049535]]	None
NM_004572	[[32943679, 32945426], [32945577, 32945665], [32949042, 32949232], [32955336, 32955490], [32974289, 32974463], [32975400, 32975565], [32976978, 32977096], [32993961, 32994139], [32996115, 32996247], [33003699, 33003907], [33021860, 33021996], [33030779, 33031477], [33031853, 33031966], [33049442, 33049780]]	[[32945357, 32945426], [32945577, 32945665], [32949042, 32949232], [32955336, 32955490], [32974289, 32974463], [32975400, 32975565], [32976978, 32977096], [32993961, 32994139], [32996115, 32996247], [33003699, 33003907], [33021860, 33021996], [33030779, 33031477], [33031853, 33031966], [33049442, 33049665]]
NM_001005242	[[32943679, 32945426], [32945577, 32945665], [32949042, 32949232], [32955336, 32955490], [32974289, 32974463], [32975400, 32975565], [32976978, 32977096], [32993961, 32994139], [33003699, 33003907], [33021860, 33021996], [33030779, 33031477], [33031853, 33031966], [33049442, 33049780]]	[[32945357, 32945426], [32945577, 32945665], [32949042, 32949232], [32955336, 32955490], [32974289, 32974463], [32975400, 32975565], [32976978, 32977096], [32993961, 32994139], [33003699, 33003907], [33021860, 33021996], [33030779, 33031477], [33031853, 33031966], [33049442, 33049665]]

Promoter

Chrom	Start	End	Description
chr12	32974355	32974372	CAGE_peak_3_at_PKP2_5end
chr12	32974714	32974725	CAGE_peak_13_at_PKP2_5end
chr12	32974731	32974751	CAGE_peak_6_at_PKP2_5end
chr12	32974753	32974763	CAGE_peak_11_at_PKP2_5end
chr12	32974766	32974775	CAGE_peak_16_at_PKP2_5end
chr12	32974832	32974843	CAGE_peak_9_at_PKP2_5end
chr12	33049691	33049756	CAGE_peak_1_at_PKP2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I032891	32891107	32899830	2.64	[{'connected_gene': 'PKP2', 'score': 560.81}, {'connected_gene': 'BICD1', 'score': 15.42}, {'connected_gene': 'DNM1L', 'score': 12.84}, {'connected_gene': 'LOC100420981', 'score': 10.08}, {'connected_gene': 'RPL35AP27', 'score': 0.29}]
chr12	GH12I032811	32811429	32812495	0.2	[{'connected_gene': 'PKP2', 'score': 4.76}, {'connected_gene': 'ENSG00000274976', 'score': 0.44}, {'connected_gene': 'YARS2', 'score': 0.22}]
chr12	GH12I032808	32808451	32810784	0.2	[{'connected_gene': 'PKP2', 'score': 4.75}, {'connected_gene': 'ENSG00000274976', 'score': 0.39}, {'connected_gene': 'YARS2', 'score': 0.23}]
chr12	GH12I032883	32883472	32884314	0.31	[{'connected_gene': 'PKP2', 'score': 0.39}, {'connected_gene': 'RPL35AP27', 'score': 0.34}]
chr12	GH12I032886	32886605	32888029	0.2	[{'connected_gene': 'PKP2', 'score': 0.44}, {'connected_gene': 'RPL35AP27', 'score': 0.34}]
chr12	GH12I032884	32884889	32885786	0.31	[{'connected_gene': 'PKP2', 'score': 0.39}, {'connected_gene': 'RPL35AP27', 'score': 0.34}]
chr12	GH12I032870	32870702	32871471	0.2	[{'connected_gene': 'PKP2', 'score': 12.23}, {'connected_gene': 'GC12P032861', 'score': 0.44}, {'connected_gene': 'RPL35AP27', 'score': 0.44}, {'connected_gene': 'GC12P032848', 'score': 0.34}]
chr12	GH12I032882	32882933	32883469	0.2	[{'connected_gene': 'PKP2', 'score': 0.39}, {'connected_gene': 'RPL35AP27', 'score': 0.34}]
chr12	GH12I032873	32873987	32876744	0.58	[{'connected_gene': 'PKP2', 'score': 17.25}, {'connected_gene': 'RPL35AP27', 'score': 0.39}]
chr12	GH12I032885	32885855	32886437	0.31	[{'connected_gene': 'PKP2', 'score': 0.39}, {'connected_gene': 'RPL35AP27', 'score': 0.34}]
chr12	GH12I032872	32872752	32873502	0.2	[{'connected_gene': 'PKP2', 'score': 12.26}, {'connected_gene': 'RPL35AP27', 'score': 0.39}]
chr12	GH12I032888	32888410	32890118	0.71	[{'connected_gene': 'PKP2', 'score': 0.44}, {'connected_gene': 'RPL35AP27', 'score': 0.31}]
chr12	GH12I032881	32880707	32880736	0.4	[{'connected_gene': 'PKP2', 'score': 0.37}, {'connected_gene': 'RPL35AP27', 'score': 0.37}]
chr12	GH12I032879	32879463	32880465	0.76	[{'connected_gene': 'PKP2', 'score': 0.37}, {'connected_gene': 'RPL35AP27', 'score': 0.37}]
chr12	GH12I032871	32871617	32872390	0.2	[{'connected_gene': 'PKP2', 'score': 12.26}, {'connected_gene': 'RPL35AP27', 'score': 0.44}]
chr12	GH12I032880	32880587	32880636	0.4	[{'connected_gene': 'PKP2', 'score': 0.37}, {'connected_gene': 'RPL35AP27', 'score': 0.37}]
chr12	GH12I032835	32835639	32837733	0.2	[{'connected_gene': 'PKP2', 'score': 11.52}, {'connected_gene': 'GC12P032848', 'score': 0.39}, {'connected_gene': 'ENSG00000274976', 'score': 0.37}]
chr12	GH12I032843	32843239	32844303	0.83	[{'connected_gene': 'PKP2', 'score': 11.54}, {'connected_gene': 'GC12P032848', 'score': 0.77}, {'connected_gene': 'ENSG00000274976', 'score': 0.34}]
chr12	GH12I032840	32840700	32842062	0.31	[{'connected_gene': 'PKP2', 'score': 11.53}, {'connected_gene': 'GC12P032848', 'score': 0.44}, {'connected_gene': 'ENSG00000274976', 'score': 0.34}]
chr12	GH12I032853	32853402	32855509	0.2	[{'connected_gene': 'PKP2', 'score': 12.24}, {'connected_gene': 'GC12P032848', 'score': 0.44}, {'connected_gene': 'GC12P032861', 'score': 0.44}]
chr12	GH12I032856	32856760	32857470	0.38	[{'connected_gene': 'PKP2', 'score': 16.59}, {'connected_gene': 'GC12P032861', 'score': 0.77}, {'connected_gene': 'GC12P032848', 'score': 0.44}]
chr12	GH12I032839	32839452	32840554	0.2	[{'connected_gene': 'PKP2', 'score': 11.53}, {'connected_gene': 'GC12P032848', 'score': 0.44}, {'connected_gene': 'ENSG00000274976', 'score': 0.37}]
chr12	GH12I032906	32906090	32907358	0.84	[{'connected_gene': 'PKP2', 'score': 0.44}, {'connected_gene': 'GC12P032918', 'score': 0.39}]
chr12	GH12I032900	32900936	32902769	0.63	[{'connected_gene': 'PKP2', 'score': 6.87}, {'connected_gene': 'GC12P032918', 'score': 0.37}]
chr12	GH12I032984	32984087	32984336	0.76	[{'connected_gene': 'ASS1P14', 'score': 550.77}, {'connected_gene': 'PKP2', 'score': 3.52}, {'connected_gene': 'GC12P032966', 'score': 0.37}]
chr12	GH12I032864	32864745	32865199	0.2	[{'connected_gene': 'RPL35AP27', 'score': 550.77}, {'connected_gene': 'GC12P032861', 'score': 0.77}, {'connected_gene': 'GC12P032848', 'score': 0.37}, {'connected_gene': 'PKP2', 'score': 0.29}]
chr12	GH12I032877	32877787	32877936	0.51	[{'connected_gene': 'RPL35AP27', 'score': 0.39}, {'connected_gene': 'PKP2', 'score': 0.37}]
chr12	GH12I032851	32851930	32852674	0.2	[{'connected_gene': 'GC12P032848', 'score': 0.77}, {'connected_gene': 'GC12P032861', 'score': 0.44}, {'connected_gene': 'PKP2', 'score': 0.26}]
chr12	GH12I032846	32846017	32848343	0.2	[{'connected_gene': 'GC12P032848', 'score': 550.77}, {'connected_gene': 'PKP2', 'score': 5.32}, {'connected_gene': 'ENSG00000274976', 'score': 0.31}]
chr12	GH12I032859	32859951	32860695	0.31	[{'connected_gene': 'GC12P032861', 'score': 550.77}, {'connected_gene': 'GC12P032848', 'score': 0.39}, {'connected_gene': 'PKP2', 'score': 0.28}]
chr12	GH12I032826	32826581	32827469	0.38	[{'connected_gene': 'ENSG00000274976', 'score': 0.44}, {'connected_gene': 'GC12P032848', 'score': 0.34}, {'connected_gene': 'PKP2', 'score': 0.2}]
chr12	GH12I032820	32820973	32822449	0.58	[{'connected_gene': 'ENSG00000274976', 'score': 550.77}, {'connected_gene': 'GC12P032848', 'score': 0.31}, {'connected_gene': 'PKP2', 'score': 0.18}]
chr12	GH12I032833	32833753	32835036	0.2	[{'connected_gene': 'ENSG00000274976', 'score': 0.39}, {'connected_gene': 'GC12P032848', 'score': 0.39}, {'connected_gene': 'PKP2', 'score': 0.21}]
chr12	GH12I032827	32827826	32830758	0.2	[{'connected_gene': 'ENSG00000274976', 'score': 0.44}, {'connected_gene': 'GC12P032848', 'score': 0.37}, {'connected_gene': 'PKP2', 'score': 0.2}]
chr12	GH12I032916	32916714	32922310	1.02	[{'connected_gene': 'GC12P032918', 'score': 550.77}, {'connected_gene': 'PKP2', 'score': 6.19}, {'connected_gene': 'GC12P032966', 'score': 0.25}]
chr12	GH12I032825	32825096	32826353	0.2	[{'connected_gene': 'ENSG00000274976', 'score': 0.44}, {'connected_gene': 'GC12P032848', 'score': 0.34}, {'connected_gene': 'PKP2', 'score': 0.19}]
chr12	GH12I032823	32823754	32824586	0.2	[{'connected_gene': 'ENSG00000274976', 'score': 0.77}, {'connected_gene': 'GC12P032848', 'score': 0.34}, {'connected_gene': 'PKP2', 'score': 0.19}]
chr12	GH12I032817	32817701	32818294	0.2	[{'connected_gene': 'ENSG00000274976', 'score': 0.77}, {'connected_gene': 'YARS2', 'score': 0.21}, {'connected_gene': 'PKP2', 'score': 0.18}]
chr12	GH12I032800	32800347	32800927	0.2	[{'connected_gene': 'ENSG00000274976', 'score': 0.37}, {'connected_gene': 'YARS2', 'score': 0.26}, {'connected_gene': 'PKP2', 'score': 0.15}]
chr12	GH12I032813	32813884	32814762	0.2	[{'connected_gene': 'ENSG00000274976', 'score': 0.44}, {'connected_gene': 'YARS2', 'score': 0.22}, {'connected_gene': 'PKP2', 'score': 0.18}]
chr12	GH12I032869	32869820	32870587	0.31	[{'connected_gene': 'GC12P032861', 'score': 0.44}, {'connected_gene': 'RPL35AP27', 'score': 0.44}, {'connected_gene': 'GC12P032848', 'score': 0.34}, {'connected_gene': 'PKP2', 'score': 0.31}]