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
ENST00000396677	[[8127596, 8132684], [8148205, 8148351], [8149765, 8149803]]	[[8132244, 8132684], [8148205, 8148351], [8149765, 8149803]]
ENST00000335425	[[8127639, 8132684], [8190412, 8190590]]	[[8132244, 8132684], [8190412, 8190536]]
ENST00000343202	[[8130488, 8132684], [8148205, 8148351], [8158924, 8159018], [8159818, 8159894], [8161513, 8161740], [8190412, 8190602]]	[[8132244, 8132684], [8148205, 8148351], [8158924, 8159018], [8159818, 8159894], [8161513, 8161740], [8190412, 8190536]]
ENST00000309737	[[8130495, 8132684], [8148205, 8148354], [8158924, 8159018], [8159818, 8159894], [8161513, 8161740], [8190412, 8190536]]	[[8132244, 8132684], [8148205, 8148354], [8158924, 8159018], [8159818, 8159894], [8161513, 8161740], [8190412, 8190536]]
ENST00000526962	[[8130982, 8132684], [8148205, 8148351], [8190412, 8190587]]	[[8148337, 8148351], [8190412, 8190536]]
ENST00000524799	[[8131790, 8131954], [8132205, 8132684], [8148205, 8148351], [8158924, 8159018], [8159818, 8160106]]	None
ENST00000530060	[[8132016, 8132684], [8148205, 8148351], [8149765, 8149901], [8158924, 8159018], [8159818, 8160325]]	None
ENST00000539720	[[8132211, 8132684], [8148205, 8148354], [8158924, 8159018], [8159818, 8159894], [8161513, 8161740], [8174921, 8174970], [8190412, 8190555]]	[[8132244, 8132684], [8148205, 8148354], [8158924, 8159018], [8159818, 8159894], [8161513, 8161717]]
ENST00000528463	[[8132211, 8132684], [8148205, 8148354], [8158924, 8159018], [8159818, 8159894], [8161513, 8161740], [8174921, 8174970], [8190412, 8190555]]	[[8174962, 8174970], [8190412, 8190536]]
ENST00000425599	[[8132244, 8132684], [8159818, 8159894], [8161513, 8161740], [8190412, 8190536]]	[[8132244, 8132684], [8159818, 8159894], [8161513, 8161740], [8190412, 8190536]]
ENST00000531450	[[8132453, 8132684], [8148205, 8148438], [8158924, 8159018], [8159818, 8159894], [8161513, 8161740], [8190412, 8190568]]	[[8132453, 8132684], [8148205, 8148438], [8158924, 8159018], [8159818, 8159894], [8161513, 8161740], [8190412, 8190536]]
ENST00000529271	[[8157128, 8157391], [8158924, 8159018], [8159818, 8159972]]	None
ENST00000529035	[[8157333, 8157391], [8158924, 8159018], [8159818, 8159894], [8161513, 8161733]]	None
ENST00000419822	[[8160600, 8161740], [8190412, 8190572]]	[[8161477, 8161740], [8190412, 8190536]]
NR_144485	[[8114511, 8115706], [8128881, 8128944], [8131798, 8131954], [8132205, 8132684], [8148205, 8148351], [8158924, 8159018], [8159818, 8159894], [8161513, 8161740], [8174921, 8174970], [8190412, 8190641]]	None
NM_001346693	[[8127596, 8132684], [8148205, 8148438], [8158924, 8159018], [8159818, 8159894], [8161513, 8161740], [8174921, 8174970], [8190412, 8190641]]	[[8132244, 8132684], [8148205, 8148438], [8158924, 8159018], [8159818, 8159894], [8161513, 8161717]]
NM_001346694	[[8127596, 8132684], [8148205, 8148354], [8158924, 8159018], [8159818, 8159894], [8161513, 8161740], [8174921, 8174970], [8190412, 8190641]]	[[8132244, 8132684], [8148205, 8148354], [8158924, 8159018], [8159818, 8159894], [8161513, 8161717]]
NM_001346692	[[8127596, 8132684], [8148205, 8148351], [8158924, 8159018], [8159818, 8159894], [8161513, 8161740], [8174921, 8174970], [8190412, 8190641]]	[[8132244, 8132684], [8148205, 8148351], [8158924, 8159018], [8159818, 8159894], [8161513, 8161717]]
NM_001346690	[[8127596, 8132684], [8148205, 8148351], [8149765, 8149901], [8158924, 8159018], [8159818, 8159894], [8161513, 8161740], [8190412, 8190641]]	[[8132244, 8132684], [8148205, 8148351], [8149765, 8149803]]
NM_001206671	[[8127596, 8132684], [8148205, 8148354], [8158924, 8159018], [8159818, 8159894], [8161513, 8161740], [8190412, 8190641]]	[[8132244, 8132684], [8148205, 8148354], [8158924, 8159018], [8159818, 8159894], [8161513, 8161740], [8190412, 8190536]]
NM_024557	[[8127596, 8132684], [8148205, 8148351], [8158924, 8159018], [8159818, 8159894], [8161513, 8161740], [8190412, 8190641]]	[[8132244, 8132684], [8148205, 8148351], [8158924, 8159018], [8159818, 8159894], [8161513, 8161740], [8190412, 8190536]]
NM_001346691	[[8127596, 8132684], [8158924, 8159018], [8159818, 8159894], [8161513, 8161740], [8190412, 8190641]]	[[8132674, 8132684], [8158924, 8159018], [8159818, 8159894], [8161513, 8161740], [8190412, 8190536]]
NR_144484	[[8127596, 8132684], [8148205, 8148351], [8159818, 8159894], [8161513, 8161740], [8190412, 8190641]]	None
NM_001206672	[[8127596, 8132684], [8159818, 8159894], [8161513, 8161740], [8190412, 8190641]]	[[8132244, 8132684], [8159818, 8159894], [8161513, 8161740], [8190412, 8190536]]
NR_144497	[[8127596, 8132684], [8148205, 8148351], [8190412, 8190641]]	None
NM_001135109	[[8127596, 8132684], [8190412, 8190641]]	[[8132244, 8132684], [8190412, 8190536]]

Promoter

Chrom	Start	End	Description
chr11	8190534	8190595	CAGE_peak_1_at_RIC3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I008091	8091572	8094673	1.07	[{'connected_gene': 'RIC3', 'score': 6.25}, {'connected_gene': 'PIR33685', 'score': 0.77}, {'connected_gene': 'PIR31183', 'score': 0.77}, {'connected_gene': 'TUB', 'score': 0.19}]
chr11	GH11I008204	8204499	8209136	1.75	[{'connected_gene': 'RIC3', 'score': 18.89}, {'connected_gene': 'LOC101927936', 'score': 11.0}, {'connected_gene': 'TUB', 'score': 9.52}, {'connected_gene': 'CASC23', 'score': 9.52}, {'connected_gene': 'EIF3F', 'score': 4.84}, {'connected_gene': 'GC11M008201', 'score': 0.77}, {'connected_gene': 'GC11P008198', 'score': 0.44}]
chr11	GH11I008137	8137864	8139384	0.31	[{'connected_gene': 'RIC3', 'score': 27.34}, {'connected_gene': 'LOC101927936', 'score': 11.55}, {'connected_gene': 'TUB', 'score': 9.99}, {'connected_gene': 'CASC23', 'score': 9.98}, {'connected_gene': 'PIR34942', 'score': 0.29}, {'connected_gene': 'GC11M008105', 'score': 0.29}]
chr11	GH11I008168	8168034	8169563	1.78	[{'connected_gene': 'RIC3', 'score': 566.57}, {'connected_gene': 'LOC101927936', 'score': 550.77}, {'connected_gene': 'PIR34942', 'score': 0.21}, {'connected_gene': 'GC11M008105', 'score': 0.21}]
chr11	GH11I008201	8201440	8203854	1.06	[{'connected_gene': 'RIC3', 'score': 19.77}, {'connected_gene': 'LOC101927936', 'score': 10.81}, {'connected_gene': 'GC11P008198', 'score': 0.77}, {'connected_gene': 'GC11M008201', 'score': 0.44}]
chr11	GH11I008018	8018557	8020340	1.52	[{'connected_gene': 'TUB', 'score': 567.12}, {'connected_gene': 'GC11P008020', 'score': 550.77}, {'connected_gene': 'RIC3', 'score': 5.42}, {'connected_gene': 'OR10A3', 'score': 1.71}]
chr11	GH11I008080	8080363	8083871	1.99	[{'connected_gene': 'TUB', 'score': 566.72}, {'connected_gene': 'CASC23', 'score': 11.26}, {'connected_gene': 'ENSG00000254921', 'score': 11.1}, {'connected_gene': 'LOC100506258', 'score': 6.46}, {'connected_gene': 'TRIM66', 'score': 4.82}, {'connected_gene': 'RIC3', 'score': 4.57}, {'connected_gene': 'ENSG00000279391', 'score': 0.77}, {'connected_gene': 'PIR31183', 'score': 0.44}, {'connected_gene': 'GC11P008020', 'score': 0.21}]
chr11	GH11I008837	8837231	8842007	1.1	[{'connected_gene': 'TMEM9B-AS1', 'score': 27.14}, {'connected_gene': 'AKIP1', 'score': 17.34}, {'connected_gene': 'ST5', 'score': 10.5}, {'connected_gene': 'ENSG00000255159', 'score': 10.5}, {'connected_gene': 'ENSG00000254665', 'score': 10.03}, {'connected_gene': 'RPL27A', 'score': 10.02}, {'connected_gene': 'SCUBE2', 'score': 9.59}, {'connected_gene': 'LOC101927936', 'score': 9.46}, {'connected_gene': 'RIC3', 'score': 9.46}, {'connected_gene': 'TMEM9B', 'score': 4.11}, {'connected_gene': 'RNA5SP330', 'score': 0.44}, {'connected_gene': 'GC11P008808', 'score': 0.29}]
chr11	GH11I008085	8085360	8087488	0.84	[{'connected_gene': 'CASC23', 'score': 11.26}, {'connected_gene': 'TUB', 'score': 11.26}, {'connected_gene': 'ENSG00000254921', 'score': 11.09}, {'connected_gene': 'RIC3', 'score': 6.18}, {'connected_gene': 'PIR31183', 'score': 0.77}, {'connected_gene': 'ENSG00000279391', 'score': 0.44}, {'connected_gene': 'GC11P008020', 'score': 0.2}]
chr11	GH11I008241	8241853	8243393	0.63	[{'connected_gene': 'LOC101927936', 'score': 10.0}, {'connected_gene': 'RIC3', 'score': 10.0}, {'connected_gene': 'LOC105376536', 'score': 0.39}, {'connected_gene': 'GC11P008258', 'score': 0.37}, {'connected_gene': 'LMO1', 'score': 0.31}]
chr11	GH11I008102	8102082	8103510	0.2	[{'connected_gene': 'PIR42669', 'score': 550.77}, {'connected_gene': 'PIR38351', 'score': 550.77}, {'connected_gene': 'PIR42417', 'score': 550.77}, {'connected_gene': 'PIR46603', 'score': 550.77}, {'connected_gene': 'PIR39836', 'score': 550.77}, {'connected_gene': 'RIC3', 'score': 26.18}, {'connected_gene': 'TUB', 'score': 11.28}, {'connected_gene': 'CASC23', 'score': 11.27}, {'connected_gene': 'LOC101927936', 'score': 10.1}, {'connected_gene': 'PIR49098', 'score': 0.77}]
chr11	GH11I008094	8094907	8096580	0.2	[{'connected_gene': 'PIR33685', 'score': 550.77}, {'connected_gene': 'PIR44483', 'score': 550.77}, {'connected_gene': 'RIC3', 'score': 5.68}, {'connected_gene': 'PIR31183', 'score': 0.44}, {'connected_gene': 'TUB', 'score': 0.18}]
chr11	GH11I008099	8099414	8099563	0.76	[{'connected_gene': 'PIR49098', 'score': 550.77}, {'connected_gene': 'PIR44483', 'score': 550.77}, {'connected_gene': 'RIC3', 'score': 10.0}, {'connected_gene': 'PIR42669', 'score': 0.77}, {'connected_gene': 'TUB', 'score': 0.18}]
chr11	GH11I008097	8097032	8098296	0.4	[{'connected_gene': 'PIR49098', 'score': 550.77}, {'connected_gene': 'PIR33685', 'score': 550.77}, {'connected_gene': 'PIR44483', 'score': 550.77}, {'connected_gene': 'RIC3', 'score': 0.19}, {'connected_gene': 'TUB', 'score': 0.18}]
chr11	GH11I008098	8098374	8098703	0.4	[{'connected_gene': 'PIR49098', 'score': 550.77}, {'connected_gene': 'PIR33685', 'score': 550.77}, {'connected_gene': 'PIR44483', 'score': 550.77}, {'connected_gene': 'PIR42669', 'score': 0.77}, {'connected_gene': 'RIC3', 'score': 0.19}, {'connected_gene': 'TUB', 'score': 0.18}]
chr11	GH11I008103	8103776	8106458	0.43	[{'connected_gene': 'PIR38351', 'score': 550.77}, {'connected_gene': 'PIR34942', 'score': 550.77}, {'connected_gene': 'PIR37470', 'score': 550.77}, {'connected_gene': 'GC11M008105', 'score': 550.77}, {'connected_gene': 'PIR42417', 'score': 550.77}, {'connected_gene': 'PIR46603', 'score': 550.77}, {'connected_gene': 'PIR39836', 'score': 550.77}, {'connected_gene': 'RIC3', 'score': 24.14}, {'connected_gene': 'CASC23', 'score': 10.64}, {'connected_gene': 'TUB', 'score': 10.64}, {'connected_gene': 'LOC101927936', 'score': 10.1}]
chr11	GH11I008161	8161714	8161863	0.57	[{'connected_gene': 'ENSG00000252778', 'score': 8.72}, {'connected_gene': 'LOC101927936', 'score': 0.44}, {'connected_gene': 'RIC3', 'score': 0.44}, {'connected_gene': 'PIR34942', 'score': 0.22}, {'connected_gene': 'GC11M008105', 'score': 0.22}]