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
ENST00000368465	[[154916551, 154917593], [154918047, 154919279], [154919892, 154920024], [154920117, 154920188], [154920457, 154920481], [154920608, 154920842], [154923707, 154923873], [154923946, 154924011], [154924270, 154924395], [154928544, 154928597]]	[[154917499, 154917593], [154918047, 154919279], [154919892, 154920024], [154920117, 154920188], [154920457, 154920481], [154920608, 154920842], [154923707, 154923873], [154923946, 154924011], [154924270, 154924361]]
ENST00000368463	[[154916555, 154917593], [154918047, 154919279], [154919892, 154920024], [154920117, 154920188], [154920457, 154920481], [154920608, 154920842], [154923707, 154923873], [154923946, 154924011], [154924270, 154924397], [154926146, 154926233], [154928544, 154928580]]	[[154917499, 154917593], [154918047, 154919279], [154919892, 154920024], [154920117, 154920188], [154920457, 154920481], [154920608, 154920842], [154923707, 154923873], [154923946, 154924011], [154924270, 154924397], [154926146, 154926197]]
ENST00000539880	[[154917060, 154917593], [154918047, 154919279], [154919892, 154920024], [154920117, 154920188], [154920457, 154920481], [154920608, 154920689], [154926154, 154926233], [154928544, 154928583]]	[[154917499, 154917593], [154918047, 154919279], [154919892, 154920024], [154920117, 154920188], [154920457, 154920481], [154920608, 154920689], [154926154, 154926197]]
ENST00000542459	[[154917485, 154917593], [154918047, 154919279], [154919892, 154920024], [154920117, 154920188], [154920457, 154920481], [154920608, 154920842], [154923707, 154923732], [154928544, 154928583]]	[[154917499, 154917593], [154918047, 154919279], [154919892, 154920024], [154920117, 154920188], [154920457, 154920481], [154920608, 154920786]]
ENST00000368460	[[154919573, 154920024], [154920117, 154920188], [154920457, 154920481], [154920701, 154920842], [154923707, 154923873], [154923946, 154924011], [154924270, 154924397], [154926146, 154926233], [154928544, 154928587]]	[[154919721, 154920024], [154920117, 154920188], [154920457, 154920481], [154920701, 154920842], [154923707, 154923873], [154923946, 154924011], [154924270, 154924397], [154926146, 154926197]]
ENST00000490230	[[154920128, 154920188], [154920457, 154920481], [154920608, 154920877], [154923707, 154923873], [154923946, 154924011], [154924270, 154924397], [154926146, 154926233], [154928544, 154928599]]	[[154920842, 154920877], [154923707, 154923873], [154923946, 154924011], [154924270, 154924397], [154926146, 154926197]]
ENST00000498553	[[154919894, 154920024], [154920117, 154920188], [154920457, 154920481], [154920608, 154920842], [154923707, 154923873], [154923946, 154924011], [154926146, 154926233]]	None
ENST00000493133	[[154923704, 154923873], [154923946, 154924397], [154926146, 154926233]]	None
NM_020524	[[154916555, 154917593], [154918047, 154919279], [154919892, 154920024], [154920117, 154920188], [154920457, 154920481], [154920608, 154920842], [154923707, 154923873], [154923946, 154924011], [154924270, 154924397], [154926146, 154926233], [154928544, 154928639]]	[[154917499, 154917593], [154918047, 154919279], [154919892, 154920024], [154920117, 154920188], [154920457, 154920481], [154920608, 154920842], [154923707, 154923873], [154923946, 154924011], [154924270, 154924397], [154926146, 154926197]]
NM_001317734	[[154916555, 154917593], [154918047, 154919279], [154919892, 154920024], [154920117, 154920188], [154920457, 154920481], [154920608, 154920842], [154923707, 154923873], [154923946, 154924011], [154924270, 154924395], [154928544, 154928639]]	[[154917499, 154917593], [154918047, 154919279], [154919892, 154920024], [154920117, 154920188], [154920457, 154920481], [154920608, 154920842], [154923707, 154923873], [154923946, 154924011], [154924270, 154924361]]
NM_001317735	[[154916555, 154917593], [154918047, 154919279], [154919892, 154920024], [154920117, 154920188], [154920457, 154920481], [154920608, 154920842], [154923707, 154923732], [154928544, 154928639]]	[[154917499, 154917593], [154918047, 154919279], [154919892, 154920024], [154920117, 154920188], [154920457, 154920481], [154920608, 154920786]]

Promoter

Chrom	Start	End	Description
chr1	154926344	154926365	CAGE_peak_4_at_PBXIP1_5end
chr1	154926384	154926395	CAGE_peak_9_at_PBXIP1_5end
chr1	154927634	154927643	CAGE_peak_15_at_PBXIP1_5end
chr1	154927768	154927782	CAGE_peak_2_at_PBXIP1_5end
chr1	154927795	154927814	CAGE_peak_6_at_PBXIP1_5end
chr1	154927819	154927829	CAGE_peak_18_at_PBXIP1_5end
chr1	154928562	154928629	CAGE_peak_1_at_PBXIP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I155084	155084020	155086534	1.78	[{'connected_gene': 'THBS3', 'score': 20.77}, {'connected_gene': 'ADAM15', 'score': 17.47}, {'connected_gene': 'UBAP2L', 'score': 15.69}, {'connected_gene': 'GON4L', 'score': 14.4}, {'connected_gene': 'KHDC4', 'score': 13.29}, {'connected_gene': 'EFNA1', 'score': 12.82}, {'connected_gene': 'SLC50A1', 'score': 11.92}, {'connected_gene': 'ENSG00000271267', 'score': 11.19}, {'connected_gene': 'KRTCAP2', 'score': 11.06}, {'connected_gene': 'MUC1', 'score': 11.03}, {'connected_gene': 'ENSG00000231064', 'score': 11.03}, {'connected_gene': 'MTX1', 'score': 11.02}, {'connected_gene': 'DCST1-AS1', 'score': 11.0}, {'connected_gene': 'GBAP1', 'score': 9.95}, {'connected_gene': 'DAP3', 'score': 4.72}, {'connected_gene': 'PBXIP1', 'score': 4.34}, {'connected_gene': 'EFNA3', 'score': 0.44}, {'connected_gene': 'ENSG00000251246', 'score': 0.34}, {'connected_gene': 'GC01P155124', 'score': 0.28}]
chr1	GH01I154950	154950372	154959084	2.37	[{'connected_gene': 'PBXIP1', 'score': 550.77}, {'connected_gene': 'ZBTB7B', 'score': 11.56}, {'connected_gene': 'SHC1', 'score': 11.22}, {'connected_gene': 'FLAD1', 'score': 11.0}, {'connected_gene': 'CHRNB2', 'score': 10.05}, {'connected_gene': 'UBE2Q1', 'score': 10.05}, {'connected_gene': 'UBE2Q1-AS1', 'score': 9.3}, {'connected_gene': 'PIR58601', 'score': 0.77}, {'connected_gene': 'ENSG00000268154', 'score': 0.77}, {'connected_gene': 'PYGO2', 'score': 0.44}]
chr1	GH01I154998	154998814	155010088	2.67	[{'connected_gene': 'ZBTB7B', 'score': 571.61}, {'connected_gene': 'GON4L', 'score': 93.39}, {'connected_gene': 'CLK2', 'score': 91.42}, {'connected_gene': 'UBAP2L', 'score': 79.31}, {'connected_gene': 'KHDC4', 'score': 68.73}, {'connected_gene': 'ENSG00000271267', 'score': 60.04}, {'connected_gene': 'RUSC1-AS1', 'score': 44.78}, {'connected_gene': 'MSTO1', 'score': 44.46}, {'connected_gene': 'THBS3', 'score': 40.85}, {'connected_gene': 'MSTO2P', 'score': 35.49}, {'connected_gene': 'SHC1', 'score': 32.19}, {'connected_gene': 'FLAD1', 'score': 30.8}, {'connected_gene': 'YY1AP1', 'score': 28.63}, {'connected_gene': 'ASH1L-AS1', 'score': 28.1}, {'connected_gene': 'DCST1', 'score': 24.65}, {'connected_gene': 'LOC101928120', 'score': 19.88}, {'connected_gene': 'ASH1L', 'score': 19.06}, {'connected_gene': 'KRTCAP2', 'score': 19.05}, {'connected_gene': 'DCST2', 'score': 17.03}, {'connected_gene': 'DPM3', 'score': 12.44}, {'connected_gene': 'ADAR', 'score': 12.39}, {'connected_gene': 'SLC50A1', 'score': 10.1}, {'connected_gene': 'MTX1', 'score': 2.99}, {'connected_gene': 'PYGO2', 'score': 1.93}, {'connected_gene': 'CKS1B', 'score': 1.49}, {'connected_gene': 'PBXIP1', 'score': 1.43}, {'connected_gene': 'GC01M154997', 'score': 0.77}, {'connected_gene': 'GC01P155005', 'score': 0.77}]
chr1	GH01I154790	154790865	154792442	1.01	[{'connected_gene': 'KCNN3', 'score': 11.57}, {'connected_gene': 'UBE2Q1', 'score': 10.22}, {'connected_gene': 'UBE2Q1-AS1', 'score': 10.22}, {'connected_gene': 'ADAM15', 'score': 10.14}, {'connected_gene': 'DCST1-AS1', 'score': 10.13}, {'connected_gene': 'PBXIP1', 'score': 4.18}, {'connected_gene': 'PIR50309', 'score': 0.29}, {'connected_gene': 'PIR49202', 'score': 0.18}]
chr1	GH01I154940	154940001	154946025	1.7	[{'connected_gene': 'KCNN3', 'score': 20.78}, {'connected_gene': 'EFNA3', 'score': 5.39}, {'connected_gene': 'MSTO2P', 'score': 4.34}, {'connected_gene': 'RUSC1', 'score': 3.76}, {'connected_gene': 'PMVK', 'score': 2.71}, {'connected_gene': 'ADAR', 'score': 2.68}, {'connected_gene': 'CLK2', 'score': 1.72}, {'connected_gene': 'RUSC1-AS1', 'score': 1.31}, {'connected_gene': 'GC01M154946', 'score': 0.77}, {'connected_gene': 'ENSG00000270361', 'score': 0.44}, {'connected_gene': 'PBXIP1', 'score': 0.39}]
chr1	GH01I154857	154857951	154863620	2.08	[{'connected_gene': 'KCNN3', 'score': 563.59}, {'connected_gene': 'ADAR', 'score': 11.61}, {'connected_gene': 'PBXIP1', 'score': 7.54}, {'connected_gene': 'RUSC1', 'score': 5.66}, {'connected_gene': 'MUC1', 'score': 5.05}, {'connected_gene': 'FDPS', 'score': 4.49}, {'connected_gene': 'PMVK', 'score': 2.67}, {'connected_gene': 'RUSC1-AS1', 'score': 1.92}, {'connected_gene': 'CLK2', 'score': 1.53}, {'connected_gene': 'PIR50309', 'score': 0.28}]
chr1	GH01I154606	154606413	154610516	2.56	[{'connected_gene': 'ADAR', 'score': 560.0}, {'connected_gene': 'CLK2', 'score': 29.25}, {'connected_gene': 'CHTOP', 'score': 24.56}, {'connected_gene': 'ILF2', 'score': 20.07}, {'connected_gene': 'ASH1L-AS1', 'score': 18.57}, {'connected_gene': 'ENSG00000271267', 'score': 18.04}, {'connected_gene': 'CHRNB2', 'score': 17.92}, {'connected_gene': 'RUSC1-AS1', 'score': 15.26}, {'connected_gene': 'CRTC2', 'score': 14.73}, {'connected_gene': 'UBAP2L', 'score': 14.13}, {'connected_gene': 'CREB3L4', 'score': 12.53}, {'connected_gene': 'DPM3', 'score': 11.71}, {'connected_gene': 'FLAD1', 'score': 11.36}, {'connected_gene': 'SLC27A3', 'score': 11.18}, {'connected_gene': 'LOC101928120', 'score': 11.15}, {'connected_gene': 'UBE2Q1', 'score': 11.12}, {'connected_gene': 'UBE2Q1-AS1', 'score': 10.72}, {'connected_gene': 'DCST1', 'score': 10.2}, {'connected_gene': 'DCST2', 'score': 10.09}, {'connected_gene': 'IL6R', 'score': 7.75}, {'connected_gene': 'PBXIP1', 'score': 3.9}, {'connected_gene': 'ATP8B2', 'score': 1.61}, {'connected_gene': 'SHC1', 'score': 1.21}, {'connected_gene': 'PIR46675', 'score': 0.44}]
chr1	GH01I154948	154948425	154949093	0.31	[{'connected_gene': 'ENSG00000268154', 'score': 550.77}, {'connected_gene': 'SHC1', 'score': 10.42}, {'connected_gene': 'GC01M154946', 'score': 0.77}, {'connected_gene': 'PBXIP1', 'score': 0.44}]
chr1	GH01I154935	154935757	154939545	2.61	[{'connected_gene': 'ENSG00000270361', 'score': 550.77}, {'connected_gene': 'PMVK', 'score': 550.77}, {'connected_gene': 'GON4L', 'score': 49.33}, {'connected_gene': 'CLK2', 'score': 49.29}, {'connected_gene': 'KHDC4', 'score': 48.43}, {'connected_gene': 'ENSG00000271267', 'score': 38.28}, {'connected_gene': 'UBAP2L', 'score': 35.23}, {'connected_gene': 'THBS3', 'score': 31.03}, {'connected_gene': 'RUSC1-AS1', 'score': 30.29}, {'connected_gene': 'CRTC2', 'score': 29.35}, {'connected_gene': 'SHC1', 'score': 27.4}, {'connected_gene': 'CREB3L4', 'score': 21.71}, {'connected_gene': 'KRTCAP2', 'score': 18.19}, {'connected_gene': 'MSTO1', 'score': 13.38}, {'connected_gene': 'YY1AP1', 'score': 12.57}, {'connected_gene': 'MSTO2P', 'score': 11.75}, {'connected_gene': 'FLAD1', 'score': 11.56}, {'connected_gene': 'LOC101928120', 'score': 11.04}, {'connected_gene': 'RPS27', 'score': 10.57}, {'connected_gene': 'ASH1L', 'score': 9.89}, {'connected_gene': 'DPM3', 'score': 9.88}, {'connected_gene': 'SLC39A1', 'score': 9.71}, {'connected_gene': 'KCNN3', 'score': 9.44}, {'connected_gene': 'PBXIP1', 'score': 6.11}, {'connected_gene': 'MTX1', 'score': 1.51}, {'connected_gene': 'ADAR', 'score': 1.24}, {'connected_gene': 'GC01M154946', 'score': 0.44}]