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
ENST00000261712	[[30771278, 30771632], [30773962, 30774064], [30781512, 30781637], [30791066, 30791138], [30791538, 30791596], [30796016, 30796211], [30800818, 30800963], [30801781, 30801842], [30804538, 30804601], [30806268, 30806394], [30806868, 30806904], [30807163, 30807215], [30807506, 30807649], [30807770, 30810336]]	[[30771541, 30771632], [30773962, 30774064], [30781512, 30781637], [30791066, 30791138], [30791538, 30791596], [30796016, 30796211], [30800818, 30800963], [30801781, 30801842], [30804538, 30804601], [30806268, 30806394], [30806868, 30806904], [30807163, 30807215], [30807506, 30807649]]
ENST00000457654	[[30771491, 30771632], [30773962, 30774064], [30781512, 30781637], [30791066, 30791138], [30791538, 30791596], [30796016, 30796211], [30800818, 30800963], [30801781, 30801842], [30804538, 30804601], [30806268, 30806394], [30806868, 30806904], [30807163, 30807215], [30807506, 30808489]]	[[30771541, 30771632], [30773962, 30774064], [30781512, 30781637], [30791066, 30791138], [30791538, 30791596], [30796016, 30796211], [30800818, 30800963], [30801781, 30801842], [30804538, 30804601], [30806268, 30806394], [30806868, 30806904], [30807163, 30807215], [30807506, 30807649]]
ENST00000578397	[[30771521, 30771632], [30773962, 30774064], [30781512, 30781637], [30791066, 30791138], [30791538, 30791596], [30796016, 30796211], [30800818, 30800963], [30801781, 30801842], [30804538, 30804847]]	None
ENST00000584340	[[30796089, 30796211], [30800818, 30801099], [30801781, 30801842], [30804538, 30804601], [30806268, 30806300]]	[[30796089, 30796211], [30800818, 30800967]]
ENST00000578213	[[30771396, 30771536], [30773962, 30774064], [30781512, 30781637], [30791066, 30791138], [30791538, 30791579]]	[[30781613, 30781637], [30791066, 30791138], [30791538, 30791579]]
ENST00000579451	[[30771522, 30771632], [30773962, 30774064], [30781512, 30781637], [30781769, 30781895], [30791066, 30791138], [30791538, 30791585]]	[[30771541, 30771632], [30773962, 30774064], [30781512, 30781637], [30781769, 30781895], [30791066, 30791138], [30791538, 30791585]]
ENST00000481992	[[30771529, 30771632], [30773962, 30774351]]	None
ENST00000580904	[[30772684, 30773005], [30773962, 30774064], [30781512, 30781629]]	[[30781613, 30781629]]
ENST00000493026	[[30803697, 30804601], [30806268, 30807215], [30807506, 30808042]]	None
ENST00000469475	[[30807095, 30807215], [30807506, 30807649], [30807770, 30807980]]	None
ENST00000585265	[[30807209, 30807649], [30807770, 30808000]]	None
NM_002815	[[30771480, 30771632], [30773962, 30774064], [30781512, 30781637], [30791066, 30791138], [30791538, 30791596], [30796016, 30796211], [30800818, 30800963], [30801781, 30801842], [30804538, 30804601], [30806268, 30806394], [30806868, 30806904], [30807163, 30807215], [30807506, 30807649], [30807770, 30810337]]	[[30771541, 30771632], [30773962, 30774064], [30781512, 30781637], [30791066, 30791138], [30791538, 30791596], [30796016, 30796211], [30800818, 30800963], [30801781, 30801842], [30804538, 30804601], [30806268, 30806394], [30806868, 30806904], [30807163, 30807215], [30807506, 30807649]]
NM_001270482	[[30771480, 30771632], [30773962, 30774064], [30781512, 30781637], [30791066, 30791138], [30791538, 30791596], [30796016, 30796211], [30800818, 30800963], [30801781, 30801842], [30804538, 30804601], [30806268, 30806394], [30806868, 30806904], [30807163, 30807215], [30807506, 30810337]]	[[30771541, 30771632], [30773962, 30774064], [30781512, 30781637], [30791066, 30791138], [30791538, 30791596], [30796016, 30796211], [30800818, 30800963], [30801781, 30801842], [30804538, 30804601], [30806268, 30806394], [30806868, 30806904], [30807163, 30807215], [30807506, 30807649]]

Promoter

Chrom	Start	End	Description
chr17	30771479	30771536	CAGE_peak_1_at_PSMD11_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I032451	32451118	32451402	0.27	[{'connected_gene': 'CDK5R1', 'score': 11.66}, {'connected_gene': 'ZNF207', 'score': 11.5}, {'connected_gene': 'C17orf75', 'score': 10.98}, {'connected_gene': 'MIR632', 'score': 10.34}, {'connected_gene': 'GC17P032446', 'score': 0.77}, {'connected_gene': 'PSMD11', 'score': 0.44}, {'connected_gene': 'ENSG00000202100', 'score': 0.39}, {'connected_gene': 'GC17M032464', 'score': 0.39}, {'connected_gene': 'GC17M032351', 'score': 0.31}]
chr17	GH17I032485	32485394	32488080	2.13	[{'connected_gene': 'CDK5R1', 'score': 550.77}, {'connected_gene': 'PSMD11', 'score': 22.71}, {'connected_gene': 'ENSG00000266718', 'score': 0.44}]
chr17	GH17I032348	32348589	32352670	2.3	[{'connected_gene': 'ZNF207', 'score': 605.36}, {'connected_gene': 'C17orf75', 'score': 569.36}, {'connected_gene': 'GC17P032358', 'score': 550.77}, {'connected_gene': 'MIR632', 'score': 550.77}, {'connected_gene': 'PIR54391', 'score': 550.77}, {'connected_gene': 'GC17M032350', 'score': 550.77}, {'connected_gene': 'SUZ12', 'score': 53.73}, {'connected_gene': 'UTP6', 'score': 53.56}, {'connected_gene': 'PSMD11', 'score': 28.28}, {'connected_gene': 'LRRC37B', 'score': 18.57}, {'connected_gene': 'RHBDL3', 'score': 12.14}, {'connected_gene': 'MYO1D', 'score': 10.03}, {'connected_gene': 'ENSG00000265794', 'score': 0.31}, {'connected_gene': 'ENSG00000274341', 'score': 0.22}, {'connected_gene': 'GC17M032351', 'score': 0.13}]
chr17	GH17I032340	32340990	32343150	2.12	[{'connected_gene': 'C17orf75', 'score': 569.43}, {'connected_gene': 'ZNF207', 'score': 67.17}, {'connected_gene': 'UTP6', 'score': 64.43}, {'connected_gene': 'SUZ12', 'score': 61.44}, {'connected_gene': 'RHBDL3', 'score': 12.15}, {'connected_gene': 'TMEM98', 'score': 11.24}, {'connected_gene': 'SH3GL1P1', 'score': 10.99}, {'connected_gene': 'PSMD11', 'score': 10.45}, {'connected_gene': 'MYO1D', 'score': 10.03}, {'connected_gene': 'OOSP1P2', 'score': 0.77}, {'connected_gene': 'ENSG00000265139', 'score': 0.39}, {'connected_gene': 'ENSG00000265794', 'score': 0.37}]
chr17	GH17I031802	31802343	31804806	0.94	[{'connected_gene': 'PSMD11', 'score': 5.71}, {'connected_gene': 'RAB11FIP4', 'score': 4.16}, {'connected_gene': 'GC17P031792', 'score': 0.39}, {'connected_gene': 'ENSG00000265046', 'score': 0.31}]
chr17	GH17I032443	32443800	32447126	2.06	[{'connected_gene': 'PSMD11', 'score': 583.77}, {'connected_gene': 'GC17P032446', 'score': 550.77}, {'connected_gene': 'ENSG00000279762', 'score': 550.77}, {'connected_gene': 'ZNF207', 'score': 21.15}, {'connected_gene': 'UTP6', 'score': 13.05}, {'connected_gene': 'SUZ12', 'score': 12.47}, {'connected_gene': 'ENSG00000265139', 'score': 11.77}, {'connected_gene': 'CDK5R1', 'score': 11.65}, {'connected_gene': 'TMEM98', 'score': 11.16}, {'connected_gene': 'RHBDL3', 'score': 11.05}, {'connected_gene': 'C17orf75', 'score': 10.98}, {'connected_gene': 'MIR632', 'score': 10.34}, {'connected_gene': 'GC17M032351', 'score': 0.29}]
chr17	GH17I032491	32491233	32493400	1.17	[{'connected_gene': 'PSMD11', 'score': 20.61}, {'connected_gene': 'C17orf75', 'score': 9.02}, {'connected_gene': 'RHBDL3', 'score': 6.01}, {'connected_gene': 'ENSG00000266718', 'score': 0.77}, {'connected_gene': 'CDK5R1', 'score': 0.44}, {'connected_gene': 'MYO1D', 'score': 0.05}]
chr17	GH17I032354	32354758	32355416	0.38	[{'connected_gene': 'PSMD11', 'score': 19.55}, {'connected_gene': 'RHBDL3', 'score': 5.92}, {'connected_gene': 'ZNF207', 'score': 0.77}, {'connected_gene': 'ENSG00000265794', 'score': 0.29}, {'connected_gene': 'ENSG00000274341', 'score': 0.23}, {'connected_gene': 'GC17M032351', 'score': 0.13}]
chr17	GH17I032335	32335531	32336312	0.2	[{'connected_gene': 'PSMD11', 'score': 19.56}, {'connected_gene': 'RHBDL3', 'score': 10.84}, {'connected_gene': 'OOSP1P2', 'score': 0.44}, {'connected_gene': 'ENSG00000265139', 'score': 0.44}, {'connected_gene': 'C17orf75', 'score': 0.39}, {'connected_gene': 'ENSG00000265794', 'score': 0.39}]
chr17	GH17I032305	32305162	32305291	0.2	[{'connected_gene': 'PSMD11', 'score': 13.55}, {'connected_gene': 'PIR39108', 'score': 0.37}, {'connected_gene': 'LOC105371732', 'score': 0.34}, {'connected_gene': 'RHBDL3', 'score': 0.28}]
chr17	GH17I032310	32310902	32311748	0.43	[{'connected_gene': 'PSMD11', 'score': 14.45}, {'connected_gene': 'PIR39108', 'score': 0.44}, {'connected_gene': 'LOC105371732', 'score': 0.29}, {'connected_gene': 'RHBDL3', 'score': 0.25}]
chr17	GH17I031900	31900600	31902400	2.03	[{'connected_gene': 'UTP6', 'score': 571.19}, {'connected_gene': 'ZNF207', 'score': 22.17}, {'connected_gene': 'SUZ12', 'score': 16.95}, {'connected_gene': 'COPRS', 'score': 15.39}, {'connected_gene': 'TEFM', 'score': 14.09}, {'connected_gene': 'PSMD11', 'score': 13.34}, {'connected_gene': 'DPRXP4', 'score': 12.5}, {'connected_gene': 'SH3GL1P1', 'score': 11.05}, {'connected_gene': 'ENSG00000264456', 'score': 10.49}, {'connected_gene': 'ENSG00000263990', 'score': 0.31}]
chr17	GH17I032482	32482473	32484992	1.26	[{'connected_gene': 'RHBDL3', 'score': 5.66}, {'connected_gene': 'CDK5R1', 'score': 0.77}, {'connected_gene': 'GC17M032351', 'score': 0.77}, {'connected_gene': 'PSMD11', 'score': 0.28}]
chr17	GH17I031464	31464791	31465746	0.43	[{'connected_gene': 'RN7SL79P', 'score': 550.77}, {'connected_gene': 'PSMD11', 'score': 13.33}, {'connected_gene': 'RAB11FIP4', 'score': 11.22}, {'connected_gene': 'LOC105371725', 'score': 0.28}]
chr17	GH17I031548	31548601	31551000	1.47	[{'connected_gene': 'TRT-CGT4-1', 'score': 550.77}, {'connected_gene': 'NF1', 'score': 32.69}, {'connected_gene': 'LRRC37BP1', 'score': 28.86}, {'connected_gene': 'ENSG00000266490', 'score': 26.27}, {'connected_gene': 'UTP6', 'score': 24.6}, {'connected_gene': 'SUZ12P1', 'score': 15.67}, {'connected_gene': 'ENSG00000263990', 'score': 13.14}, {'connected_gene': 'SUZ12', 'score': 13.02}, {'connected_gene': 'LRRC37B', 'score': 12.97}, {'connected_gene': 'RHBDL3', 'score': 11.99}, {'connected_gene': 'ENSG00000265791', 'score': 11.49}, {'connected_gene': 'SMURF2P1', 'score': 10.47}, {'connected_gene': 'ATAD5', 'score': 10.42}, {'connected_gene': 'C17orf75', 'score': 10.06}, {'connected_gene': 'RAB11FIP4', 'score': 6.18}, {'connected_gene': 'PSMD11', 'score': 4.74}, {'connected_gene': 'GC17P031541', 'score': 0.44}]
chr17	GH17I032463	32462443	32462592	0.43	[{'connected_gene': 'GC17M032464', 'score': 550.77}, {'connected_gene': 'ENSG00000202100', 'score': 550.77}, {'connected_gene': 'CDK5R1', 'score': 12.07}, {'connected_gene': 'PSMD11', 'score': 0.37}, {'connected_gene': 'GC17P032446', 'score': 0.37}, {'connected_gene': 'GC17M032351', 'score': 0.37}]
chr17	GH17I032478	32478987	32480576	0.2	[{'connected_gene': 'GC17M032351', 'score': 550.77}, {'connected_gene': 'CDK5R1', 'score': 0.44}, {'connected_gene': 'PSMD11', 'score': 0.28}]
chr17	GH17I032462	32461623	32461772	0.56	[{'connected_gene': 'ENSG00000202100', 'score': 550.77}, {'connected_gene': 'GC17M032464', 'score': 550.77}, {'connected_gene': 'CDK5R1', 'score': 11.99}, {'connected_gene': 'RHBDL3', 'score': 10.28}, {'connected_gene': 'MYO1D', 'score': 9.84}, {'connected_gene': 'ENSG00000226377', 'score': 9.84}, {'connected_gene': 'GC17P032446', 'score': 0.37}, {'connected_gene': 'PSMD11', 'score': 0.37}, {'connected_gene': 'GC17M032351', 'score': 0.37}]
chr17	GH17I032494	32494401	32498550	1.29	[{'connected_gene': 'ENSG00000266718', 'score': 557.09}, {'connected_gene': 'PSMD11', 'score': 13.06}, {'connected_gene': 'CDK5R1', 'score': 10.63}, {'connected_gene': 'C17orf75', 'score': 8.46}, {'connected_gene': 'ENSG00000280245', 'score': 0.44}, {'connected_gene': 'MYO1D', 'score': 0.05}]
chr17	GH17I032318	32318801	32319859	1.04	[{'connected_gene': 'PIR39108', 'score': 550.77}, {'connected_gene': 'UTP6', 'score': 14.75}, {'connected_gene': 'SUZ12', 'score': 12.6}, {'connected_gene': 'ZNF207', 'score': 11.31}, {'connected_gene': 'PSMD11', 'score': 10.43}, {'connected_gene': 'RHBDL3', 'score': 4.6}, {'connected_gene': 'LOC105371732', 'score': 0.28}]
chr17	GH17I032461	32461883	32462032	0.57	[{'connected_gene': 'ENSG00000202100', 'score': 550.77}, {'connected_gene': 'GC17M032464', 'score': 550.77}, {'connected_gene': 'RHBDL3', 'score': 15.88}, {'connected_gene': 'CDK5R1', 'score': 11.99}, {'connected_gene': 'ENSG00000226377', 'score': 9.85}, {'connected_gene': 'MYO1D', 'score': 9.84}, {'connected_gene': 'GC17P032446', 'score': 0.37}, {'connected_gene': 'PSMD11', 'score': 0.37}, {'connected_gene': 'GC17M032351', 'score': 0.37}]