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
ENST00000380121	[[33006553, 33007109], [33010497, 33010542], [33012788, 33012874], [33016524, 33018263], [33020495, 33020617], [33052023, 33052185], [33052364, 33052412], [33054726, 33054775]]	None
ENST00000503296	[[33006923, 33007109], [33010497, 33010542], [33012788, 33012874], [33016524, 33018263], [33052023, 33052185], [33054726, 33054774], [33064228, 33064277]]	None
ENST00000504114	[[33006923, 33007109], [33010497, 33010542], [33012788, 33012874], [33016524, 33018263], [33091993, 33092140], [33095509, 33095586], [33096318, 33096407], [33101594, 33101669], [33112754, 33112823]]	[[33010518, 33010542], [33012788, 33012874], [33016524, 33018263], [33091993, 33092140], [33095509, 33095586], [33096318, 33096407], [33101594, 33101646]]
ENST00000357505	[[33006923, 33007109], [33010497, 33010542], [33012788, 33012874], [33016524, 33018263], [33091993, 33092140], [33095509, 33095586], [33096318, 33096407], [33101594, 33101669], [33112754, 33112821], [33112914, 33112929]]	[[33010518, 33010542], [33012788, 33012874], [33016524, 33018263], [33091993, 33092140], [33095509, 33095586], [33096318, 33096407], [33101594, 33101646]]
ENST00000399396	[[33006929, 33007109], [33010497, 33010542], [33012788, 33012874], [33016524, 33018263], [33091993, 33092140], [33095509, 33095586], [33096318, 33096407], [33101594, 33101669], [33111142, 33111164], [33112914, 33112936]]	[[33010518, 33010542], [33012788, 33012874], [33016524, 33018263], [33091993, 33092140], [33095509, 33095586], [33096318, 33096407], [33101594, 33101669], [33111142, 33111164]]
ENST00000509076	[[33006967, 33007109], [33010497, 33010542], [33012788, 33012874], [33016524, 33018261], [33091993, 33092140], [33095509, 33096412]]	None
ENST00000446957	[[33007027, 33007109], [33010497, 33010542], [33012788, 33012874], [33016524, 33016685], [33091993, 33092140], [33095509, 33095586], [33096318, 33096407], [33101544, 33101669], [33109905, 33111164]]	[[33010518, 33010542], [33012788, 33012874], [33016524, 33016685], [33091993, 33092140], [33095509, 33095586], [33096318, 33096407], [33101544, 33101669], [33109905, 33111164]]
ENST00000505213	[[33017833, 33018263], [33091993, 33092140], [33095509, 33095586], [33096318, 33096407], [33101544, 33101669], [33109905, 33111164], [33112754, 33112970]]	[[33017833, 33018263], [33091993, 33092140], [33095509, 33095586], [33096318, 33096407], [33101544, 33101669], [33109905, 33111164]]
ENST00000473025	[[33018102, 33018263], [33054726, 33054774], [33091993, 33092057]]	None
ENST00000503814	[[33091030, 33092140], [33095509, 33099716]]	None
ENST00000267068	[[33091030, 33092140], [33095509, 33095586], [33096318, 33096407], [33101544, 33101669], [33109905, 33111164], [33112754, 33112919]]	[[33091938, 33092140], [33095509, 33095586], [33096318, 33096407], [33101544, 33101669], [33109905, 33111164]]
ENST00000511143	[[33091624, 33092140], [33101544, 33101669], [33112754, 33112929]]	None
ENST00000475731	[[33092011, 33092140], [33096318, 33096407], [33101544, 33101669], [33109905, 33110006]]	None
ENST00000512755	[[33101011, 33101669], [33109905, 33110520]]	None
ENST00000483088	[[33110563, 33111164], [33112754, 33112821], [33112914, 33112962]]	None
NM_001320836	[[33006624, 33007109], [33010497, 33010542], [33012788, 33012874], [33016524, 33018263], [33091993, 33092140], [33095509, 33095586], [33096318, 33096407], [33101544, 33101669], [33109905, 33111164], [33112754, 33112932]]	[[33010518, 33010542], [33012788, 33012874], [33016524, 33018263], [33091993, 33092140], [33095509, 33095586], [33096318, 33096407], [33101544, 33101669], [33109905, 33111164]]
NM_001278432	[[33006624, 33007109], [33010497, 33010542], [33012788, 33012874], [33016524, 33018263], [33091993, 33092140], [33095509, 33095586], [33096318, 33096407], [33101594, 33101669], [33112754, 33112821], [33112914, 33113022]]	[[33010518, 33010542], [33012788, 33012874], [33016524, 33018263], [33091993, 33092140], [33095509, 33095586], [33096318, 33096407], [33101594, 33101646]]
NM_033111	[[33006624, 33007109], [33010497, 33010542], [33012788, 33012874], [33016524, 33018263], [33091993, 33092140], [33095509, 33095586], [33096318, 33096407], [33101594, 33101669], [33111142, 33111164], [33112914, 33113022]]	[[33010518, 33010542], [33012788, 33012874], [33016524, 33018263], [33091993, 33092140], [33095509, 33095586], [33096318, 33096407], [33101594, 33101669], [33111142, 33111164]]
NM_014887	[[33091029, 33092140], [33095509, 33095586], [33096318, 33096407], [33101544, 33101669], [33109905, 33111164], [33112754, 33112932]]	[[33091938, 33092140], [33095509, 33095586], [33096318, 33096407], [33101544, 33101669], [33109905, 33111164]]

Promoter

Chrom	Start	End	Description
chr13	33097524	33097528	CAGE_peak_5_at_N4BP2L2_5end
chr13	33112849	33112858	CAGE_peak_4_at_N4BP2L2_5end
chr13	33112869	33112882	CAGE_peak_2_at_N4BP2L2_5end
chr13	33112899	33112948	CAGE_peak_1_at_N4BP2L2_5end
chr13	33112956	33112967	CAGE_peak_3_at_N4BP2L2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I033015	33014977	33018292	1.73	[{'connected_gene': 'KL', 'score': 550.77}, {'connected_gene': 'RFC3', 'score': 13.47}, {'connected_gene': 'N4BP2L2', 'score': 10.9}, {'connected_gene': 'STARD13', 'score': 4.34}, {'connected_gene': 'STARD13-IT1', 'score': 0.11}]
chr13	GH13I032425	32425605	32430537	2.19	[{'connected_gene': 'N4BP2L1', 'score': 550.77}, {'connected_gene': 'ENSG00000212293', 'score': 14.17}, {'connected_gene': 'N4BP2L2', 'score': 10.7}, {'connected_gene': 'PDS5B', 'score': 10.28}, {'connected_gene': 'ENSG00000270008', 'score': 0.77}, {'connected_gene': 'GC13M032672', 'score': 0.44}]
chr13	GH13I033270	33270274	33286886	2.6	[{'connected_gene': 'STARD13', 'score': 555.36}, {'connected_gene': 'N4BP2L2', 'score': 31.7}, {'connected_gene': 'STARD13-AS', 'score': 12.72}, {'connected_gene': 'RFC3', 'score': 10.81}, {'connected_gene': 'KL', 'score': 9.71}, {'connected_gene': 'LINC02344', 'score': 0.22}]
chr13	GH13I032314	32314292	32317235	2.05	[{'connected_gene': 'BRCA2', 'score': 562.87}, {'connected_gene': 'ZAR1L', 'score': 550.77}, {'connected_gene': 'N4BP2L2', 'score': 11.95}, {'connected_gene': 'IFIT1P1', 'score': 0.2}]
chr13	GH13I032585	32585562	32590025	1.98	[{'connected_gene': 'PDS5B', 'score': 550.77}, {'connected_gene': 'KL', 'score': 9.89}, {'connected_gene': 'ENSG00000212293', 'score': 9.74}, {'connected_gene': 'N4BP2L2', 'score': 5.97}, {'connected_gene': 'GC13M032670', 'score': 0.18}]
chr13	GH13I032542	32542233	32542855	0.2	[{'connected_gene': 'PDS5B', 'score': 11.06}, {'connected_gene': 'ATP8A2P2', 'score': 10.65}, {'connected_gene': 'N4BP2L1', 'score': 10.14}, {'connected_gene': 'N4BP2L2', 'score': 0.77}]
chr13	GH13I032471	32471084	32472842	1.02	[{'connected_gene': 'N4BP2L2', 'score': 11.25}, {'connected_gene': 'N4BP2L1', 'score': 11.18}, {'connected_gene': 'ENSG00000212293', 'score': 10.6}, {'connected_gene': 'PDS5B', 'score': 10.26}, {'connected_gene': 'ATP8A2P2', 'score': 0.44}, {'connected_gene': 'ENSG00000270008', 'score': 0.28}]
chr13	GH13I032115	32114469	32116881	1.03	[{'connected_gene': 'N4BP2L2', 'score': 4.47}, {'connected_gene': 'BRCA2', 'score': 1.58}, {'connected_gene': 'N4BP2L1', 'score': 1.21}, {'connected_gene': 'GC13P032060', 'score': 0.22}, {'connected_gene': 'FRY', 'score': 0.18}, {'connected_gene': 'GC13P032297', 'score': 0.09}]
chr13	GH13I032117	32117201	32118079	0.93	[{'connected_gene': 'N4BP2L2', 'score': 3.88}, {'connected_gene': 'BRCA2', 'score': 1.59}, {'connected_gene': 'N4BP2L1', 'score': 1.37}, {'connected_gene': 'GC13P032060', 'score': 0.22}, {'connected_gene': 'FRY', 'score': 0.17}, {'connected_gene': 'GC13P032297', 'score': 0.1}]
chr13	GH13I032113	32113605	32114000	0.42	[{'connected_gene': 'N4BP2L2', 'score': 1.58}, {'connected_gene': 'GC13P032060', 'score': 0.22}, {'connected_gene': 'FRY', 'score': 0.18}, {'connected_gene': 'GC13P032297', 'score': 0.09}]
chr13	GH13I032537	32537320	32539683	2.24	[{'connected_gene': 'N4BP2L2', 'score': 550.77}, {'connected_gene': 'GC13M032638', 'score': 0.31}]
chr13	GH13I032535	32535001	32535200	0.31	[{'connected_gene': 'N4BP2L2', 'score': 0.77}, {'connected_gene': 'GC13M032638', 'score': 0.34}]
chr13	GH13I032045	32045802	32048399	1.5	[{'connected_gene': 'FRY', 'score': 5.52}, {'connected_gene': 'FRY-AS1', 'score': 5.4}, {'connected_gene': 'N4BP2L2', 'score': 5.32}, {'connected_gene': 'N4BP2L1', 'score': 1.5}, {'connected_gene': 'BRCA2', 'score': 1.17}, {'connected_gene': 'GC13P032060', 'score': 0.39}]
chr13	GH13I032124	32124709	32126799	1.02	[{'connected_gene': 'FRY', 'score': 11.23}, {'connected_gene': 'FRY-AS1', 'score': 11.23}, {'connected_gene': 'N4BP2L2', 'score': 3.0}, {'connected_gene': 'BRCA2', 'score': 1.25}, {'connected_gene': 'N4BP2L1', 'score': 1.23}, {'connected_gene': 'GC13P032060', 'score': 0.2}, {'connected_gene': 'GC13P032297', 'score': 0.09}]
chr13	GH13I032503	32503294	32505264	0.68	[{'connected_gene': 'ATP8A2P2', 'score': 12.49}, {'connected_gene': 'N4BP2L1', 'score': 10.08}, {'connected_gene': 'N4BP2L2-IT2', 'score': 0.44}, {'connected_gene': 'MINOS1P1', 'score': 0.44}, {'connected_gene': 'N4BP2L2', 'score': 0.29}]
chr13	GH13I032454	32454904	32455787	0.73	[{'connected_gene': 'ATP8A2P2', 'score': 12.53}, {'connected_gene': 'N4BP2L1', 'score': 11.82}, {'connected_gene': 'N4BP2L2', 'score': 10.39}, {'connected_gene': 'PDS5B', 'score': 10.18}, {'connected_gene': 'ENSG00000270008', 'score': 0.34}]
chr13	GH13I032475	32475624	32476651	0.54	[{'connected_gene': 'ATP8A2P2', 'score': 550.77}, {'connected_gene': 'ENSG00000270008', 'score': 0.26}, {'connected_gene': 'N4BP2L2', 'score': 0.21}]
chr13	GH13I032530	32530364	32532293	0.83	[{'connected_gene': 'ATP8A2P2', 'score': 10.55}, {'connected_gene': 'N4BP2L2', 'score': 0.44}, {'connected_gene': 'GC13M032638', 'score': 0.34}]
chr13	GH13I032452	32452868	32453693	0.72	[{'connected_gene': 'ATP8A2P2', 'score': 12.06}, {'connected_gene': 'ENSG00000212293', 'score': 11.84}, {'connected_gene': 'ENSG00000270008', 'score': 0.34}, {'connected_gene': 'N4BP2L2', 'score': 0.17}]
chr13	GH13I032447	32446304	32446473	0.82	[{'connected_gene': 'ENSG00000270008', 'score': 0.39}, {'connected_gene': 'ATP8A2P2', 'score': 0.29}, {'connected_gene': 'N4BP2L2', 'score': 0.16}]
chr13	GH13I032446	32446517	32447352	0.81	[{'connected_gene': 'ENSG00000270008', 'score': 0.39}, {'connected_gene': 'ATP8A2P2', 'score': 0.29}, {'connected_gene': 'N4BP2L2', 'score': 0.16}]
chr13	GH13I032443	32443224	32443393	0.56	[{'connected_gene': 'ENSG00000270008', 'score': 0.39}, {'connected_gene': 'ATP8A2P2', 'score': 0.29}, {'connected_gene': 'N4BP2L2', 'score': 0.15}]
chr13	GH13I032445	32443024	32443173	0.56	[{'connected_gene': 'ENSG00000270008', 'score': 0.39}, {'connected_gene': 'ATP8A2P2', 'score': 0.29}, {'connected_gene': 'N4BP2L2', 'score': 0.15}]
chr13	GH13I032444	32443513	32444606	0.79	[{'connected_gene': 'ENSG00000270008', 'score': 0.39}, {'connected_gene': 'ATP8A2P2', 'score': 0.29}, {'connected_gene': 'N4BP2L2', 'score': 0.16}]