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
ENST00000325995	[[124657766, 124658268], [124659148, 124659254], [124663816, 124665190]]	[[124657978, 124658268], [124659148, 124659254], [124663816, 124665166]]
NM_001081675	[[124657914, 124658268], [124659148, 124659254], [124663816, 124665190]]	[[124657978, 124658268], [124659148, 124659254], [124663816, 124665166]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I123676	123676863	123679275	0.31	[{'connected_gene': 'DERL1', 'score': 12.52}, {'connected_gene': 'TRMT12', 'score': 10.25}, {'connected_gene': 'KLHL38', 'score': 0.34}, {'connected_gene': 'LOC105375739', 'score': 0.26}]
chr8	GH08I123616	123615921	123620888	1.35	[{'connected_gene': 'DERL1', 'score': 15.23}, {'connected_gene': 'FAM91A1', 'score': 12.97}, {'connected_gene': 'KLHL38', 'score': 11.48}, {'connected_gene': 'FBXO32', 'score': 10.29}, {'connected_gene': 'LOC105375738', 'score': 8.0}, {'connected_gene': 'GC08P123594', 'score': 0.34}]
chr8	GH08I123722	123722226	123724527	0.43	[{'connected_gene': 'WDYHV1', 'score': 11.44}, {'connected_gene': 'KLHL38', 'score': 10.67}, {'connected_gene': 'FAM91A1', 'score': 10.55}, {'connected_gene': 'TATDN1', 'score': 10.21}, {'connected_gene': 'ZHX1', 'score': 10.12}, {'connected_gene': 'FBXO32', 'score': 9.95}, {'connected_gene': 'LOC105375738', 'score': 9.68}, {'connected_gene': 'FAM83A-AS1', 'score': 9.27}, {'connected_gene': 'LOC105375739', 'score': 0.77}, {'connected_gene': 'ANXA13', 'score': 0.39}]
chr8	GH08I123490	123490014	123490841	0.89	[{'connected_gene': 'WDYHV1', 'score': 15.9}, {'connected_gene': 'FBXO32', 'score': 11.08}, {'connected_gene': 'ATAD2', 'score': 10.8}, {'connected_gene': 'LOC105375738', 'score': 10.29}, {'connected_gene': 'ANXA13', 'score': 10.16}, {'connected_gene': 'KLHL38', 'score': 9.95}, {'connected_gene': 'GC08M123499', 'score': 0.39}, {'connected_gene': 'ENSG00000278374', 'score': 0.28}]
chr8	GH08I123573	123573757	123575366	0.46	[{'connected_gene': 'KLHL38', 'score': 10.79}, {'connected_gene': 'FBXO32', 'score': 10.78}, {'connected_gene': 'ENSG00000254113', 'score': 0.44}, {'connected_gene': 'RN7SKP155', 'score': 0.39}]
chr8	GH08I123509	123509326	123510091	0.31	[{'connected_gene': 'KLHL38', 'score': 10.82}, {'connected_gene': 'FBXO32', 'score': 10.8}, {'connected_gene': 'LOC105375738', 'score': 10.39}, {'connected_gene': 'GC08M123499', 'score': 0.44}, {'connected_gene': 'GC08M123523', 'score': 0.37}]
chr8	GH08I123675	123675807	123676502	0.38	[{'connected_gene': 'KLHL38', 'score': 0.34}, {'connected_gene': 'LOC105375739', 'score': 0.26}]
chr8	GH08I123669	123669421	123669570	0.66	[{'connected_gene': 'KLHL38', 'score': 0.37}, {'connected_gene': 'LOC105375739', 'score': 0.23}]
chr8	GH08I123670	123670201	123672229	1.12	[{'connected_gene': 'KLHL38', 'score': 0.37}, {'connected_gene': 'LOC105375739', 'score': 0.25}]
chr8	GH08I123652	123652201	123655931	1.68	[{'connected_gene': 'KLHL38', 'score': 550.77}, {'connected_gene': 'LOC105375738', 'score': 0.28}, {'connected_gene': 'GC08P123594', 'score': 0.22}, {'connected_gene': 'LOC105375739', 'score': 0.2}]
chr8	GH08I123637	123637001	123637150	0.43	[{'connected_gene': 'KLHL38', 'score': 0.37}, {'connected_gene': 'LOC105375738', 'score': 0.34}, {'connected_gene': 'GC08P123594', 'score': 0.26}]
chr8	GH08I123649	123649124	123650871	0.2	[{'connected_gene': 'KLHL38', 'score': 0.77}, {'connected_gene': 'LOC105375738', 'score': 0.28}, {'connected_gene': 'GC08P123594', 'score': 0.22}]
chr8	GH08I123639	123639746	123641214	0.72	[{'connected_gene': 'KLHL38', 'score': 0.39}, {'connected_gene': 'LOC105375738', 'score': 0.31}, {'connected_gene': 'GC08P123594', 'score': 0.25}]
chr8	GH08I123688	123688970	123694931	1.2	[{'connected_gene': 'ANXA13', 'score': 15.95}, {'connected_gene': 'TATDN1', 'score': 14.16}, {'connected_gene': 'KLHL38', 'score': 11.18}, {'connected_gene': 'WDYHV1', 'score': 10.88}, {'connected_gene': 'ATAD2', 'score': 10.88}, {'connected_gene': 'LOC105375738', 'score': 10.72}, {'connected_gene': 'FBXO32', 'score': 10.54}, {'connected_gene': 'DUTP2', 'score': 10.32}, {'connected_gene': 'RNU6-875P', 'score': 10.32}, {'connected_gene': 'MIR548AA1', 'score': 10.31}, {'connected_gene': 'LOC105375739', 'score': 0.31}]
chr8	GH08I123685	123685521	123685670	0.4	[{'connected_gene': 'ANXA13', 'score': 11.43}, {'connected_gene': 'KLHL38', 'score': 10.93}, {'connected_gene': 'FBXO32', 'score': 10.3}, {'connected_gene': 'LOC105375739', 'score': 0.29}]
chr8	GH08I123727	123727456	123731198	0.38	[{'connected_gene': 'ANXA13', 'score': 11.89}, {'connected_gene': 'FAM91A1', 'score': 10.98}, {'connected_gene': 'KLHL38', 'score': 10.32}, {'connected_gene': 'WDYHV1', 'score': 9.86}, {'connected_gene': 'ATAD2', 'score': 9.86}, {'connected_gene': 'FBXO32', 'score': 9.71}, {'connected_gene': 'LOC105375739', 'score': 0.44}]
chr8	GH08I123724	123724579	123726683	0.31	[{'connected_gene': 'ANXA13', 'score': 11.12}, {'connected_gene': 'FAM91A1', 'score': 10.97}, {'connected_gene': 'KLHL38', 'score': 10.33}, {'connected_gene': 'WDYHV1', 'score': 10.17}, {'connected_gene': 'ATAD2', 'score': 10.17}, {'connected_gene': 'LOC105375738', 'score': 10.05}, {'connected_gene': 'FBXO32', 'score': 9.95}, {'connected_gene': 'DUTP2', 'score': 9.54}, {'connected_gene': 'MIR548AA1', 'score': 9.54}, {'connected_gene': 'RNU6-875P', 'score': 9.53}, {'connected_gene': 'FAM83A-AS1', 'score': 9.27}, {'connected_gene': 'DERL1', 'score': 6.28}, {'connected_gene': 'LOC105375739', 'score': 0.44}]
chr8	GH08I123699	123699825	123701297	0.56	[{'connected_gene': 'ANXA13', 'score': 6.83}, {'connected_gene': 'LOC105375739', 'score': 0.37}, {'connected_gene': 'KLHL38', 'score': 0.25}]
chr8	GH08I123707	123707875	123709218	1.12	[{'connected_gene': 'ANXA13', 'score': 5.37}, {'connected_gene': 'LOC105375739', 'score': 0.39}, {'connected_gene': 'KLHL38', 'score': 0.23}]
chr8	GH08I123686	123686421	123688755	0.83	[{'connected_gene': 'FBXO32', 'score': 11.98}, {'connected_gene': 'KLHL38', 'score': 11.95}, {'connected_gene': 'ANXA13', 'score': 11.45}, {'connected_gene': 'FAM91A1', 'score': 10.98}, {'connected_gene': 'LOC105375738', 'score': 10.73}, {'connected_gene': 'WDYHV1', 'score': 10.59}, {'connected_gene': 'ATAD2', 'score': 10.59}, {'connected_gene': 'MIR548AA1', 'score': 9.53}, {'connected_gene': 'DUTP2', 'score': 9.53}, {'connected_gene': 'RNU6-875P', 'score': 9.53}, {'connected_gene': 'LOC105375739', 'score': 0.29}]
chr8	GH08I123574	123573261	123573490	0.54	[{'connected_gene': 'FBXO32', 'score': 11.76}, {'connected_gene': 'KLHL38', 'score': 11.11}, {'connected_gene': 'ENSG00000254113', 'score': 0.77}, {'connected_gene': 'RN7SKP155', 'score': 0.37}]
chr8	GH08I123572	123572450	123573139	0.31	[{'connected_gene': 'FBXO32', 'score': 11.76}, {'connected_gene': 'KLHL38', 'score': 11.11}, {'connected_gene': 'ENSG00000254113', 'score': 0.77}, {'connected_gene': 'RN7SKP155', 'score': 0.37}]
chr8	GH08I123679	123679506	123682152	0.92	[{'connected_gene': 'FBXO32', 'score': 6.28}, {'connected_gene': 'KLHL38', 'score': 0.31}, {'connected_gene': 'LOC105375739', 'score': 0.28}, {'connected_gene': 'ANXA13', 'score': 0.22}]
chr8	GH08I123519	123519752	123521923	0.86	[{'connected_gene': 'FBXO32', 'score': 11.77}, {'connected_gene': 'KLHL38', 'score': 10.46}, {'connected_gene': 'LOC105375738', 'score': 10.2}, {'connected_gene': 'WDYHV1', 'score': 9.95}, {'connected_gene': 'ATAD2', 'score': 9.95}, {'connected_gene': 'GC08M123523', 'score': 0.77}, {'connected_gene': 'GC08M123499', 'score': 0.37}]
chr8	GH08I123504	123504227	123509263	0.56	[{'connected_gene': 'FBXO32', 'score': 11.17}, {'connected_gene': 'KLHL38', 'score': 10.82}, {'connected_gene': 'LOC105375738', 'score': 10.35}, {'connected_gene': 'WDYHV1', 'score': 4.39}, {'connected_gene': 'GC08M123499', 'score': 0.77}, {'connected_gene': 'GC08M123523', 'score': 0.37}]
chr8	GH08I123518	123518495	123519455	0.31	[{'connected_gene': 'FBXO32', 'score': 11.77}, {'connected_gene': 'KLHL38', 'score': 10.46}, {'connected_gene': 'LOC105375738', 'score': 10.2}, {'connected_gene': 'GC08M123523', 'score': 0.44}, {'connected_gene': 'GC08M123499', 'score': 0.37}]
chr8	GH08I123516	123516017	123518399	1.6	[{'connected_gene': 'FBXO32', 'score': 21.42}, {'connected_gene': 'KLHL38', 'score': 10.46}, {'connected_gene': 'LOC105375738', 'score': 10.2}, {'connected_gene': 'GC08M123523', 'score': 0.44}, {'connected_gene': 'GC08M123499', 'score': 0.39}]
chr8	GH08I123513	123513421	123514837	1.06	[{'connected_gene': 'FBXO32', 'score': 19.05}, {'connected_gene': 'KLHL38', 'score': 10.46}, {'connected_gene': 'LOC105375738', 'score': 10.2}, {'connected_gene': 'GC08M123523', 'score': 0.39}, {'connected_gene': 'GC08M123499', 'score': 0.39}]
chr8	GH08I123682	123682591	123683707	0.81	[{'connected_gene': 'FBXO32', 'score': 14.76}, {'connected_gene': 'ANXA13', 'score': 11.43}, {'connected_gene': 'KLHL38', 'score': 10.95}, {'connected_gene': 'LOC105375739', 'score': 0.28}]
chr8	GH08I123512	123512193	123513002	1.26	[{'connected_gene': 'FBXO32', 'score': 17.71}, {'connected_gene': 'LOC105375738', 'score': 10.2}, {'connected_gene': 'KLHL38', 'score': 10.06}, {'connected_gene': 'GC08M123499', 'score': 0.44}, {'connected_gene': 'GC08M123523', 'score': 0.39}]
chr8	GH08I123285	123285901	123286070	0.6	[{'connected_gene': 'RNU6-628P', 'score': 11.38}, {'connected_gene': 'RNU6-875P', 'score': 11.35}, {'connected_gene': 'MIR548AA1', 'score': 11.34}, {'connected_gene': 'DUTP2', 'score': 11.34}, {'connected_gene': 'FAM83A', 'score': 10.02}, {'connected_gene': 'FAM83A-AS1', 'score': 9.93}, {'connected_gene': 'KLHL38', 'score': 9.93}, {'connected_gene': 'LOC392266', 'score': 0.77}, {'connected_gene': 'ZHX1', 'score': 0.39}]
chr8	GH08I123589	123589013	123591597	0.97	[{'connected_gene': 'RN7SKP155', 'score': 550.77}, {'connected_gene': 'LOC105375738', 'score': 12.8}, {'connected_gene': 'KLHL38', 'score': 11.05}, {'connected_gene': 'FBXO32', 'score': 10.75}, {'connected_gene': 'GC08P123594', 'score': 0.77}]
chr8	GH08I123585	123585781	123586421	0.46	[{'connected_gene': 'LOC105375738', 'score': 11.52}, {'connected_gene': 'WDYHV1', 'score': 11.48}, {'connected_gene': 'KLHL38', 'score': 11.31}, {'connected_gene': 'FBXO32', 'score': 10.79}, {'connected_gene': 'TATDN1', 'score': 10.21}, {'connected_gene': 'ZHX1', 'score': 10.13}, {'connected_gene': 'RN7SKP155', 'score': 0.77}, {'connected_gene': 'ENSG00000254113', 'score': 0.37}]
chr8	GH08I123522	123522233	123523530	0.31	[{'connected_gene': 'LOC105375738', 'score': 10.02}, {'connected_gene': 'WDYHV1', 'score': 9.84}, {'connected_gene': 'ATAD2', 'score': 9.84}, {'connected_gene': 'KLHL38', 'score': 9.78}, {'connected_gene': 'GC08M123523', 'score': 0.77}, {'connected_gene': 'FBXO32', 'score': 0.37}, {'connected_gene': 'GC08M123499', 'score': 0.34}]
chr8	GH08I123664	123664158	123667650	0.52	[{'connected_gene': 'LOC105375738', 'score': 11.09}, {'connected_gene': 'WDYHV1', 'score': 10.34}, {'connected_gene': 'ATAD2', 'score': 10.34}, {'connected_gene': 'FBXO32', 'score': 10.19}, {'connected_gene': 'KLHL38', 'score': 0.39}, {'connected_gene': 'LOC105375739', 'score': 0.23}]
chr8	GH08I123661	123661550	123663907	0.89	[{'connected_gene': 'LOC105375738', 'score': 11.1}, {'connected_gene': 'WDYHV1', 'score': 10.34}, {'connected_gene': 'ATAD2', 'score': 10.34}, {'connected_gene': 'FBXO32', 'score': 10.3}, {'connected_gene': 'FAM83A-AS1', 'score': 9.12}, {'connected_gene': 'KLHL38', 'score': 0.44}, {'connected_gene': 'LOC105375739', 'score': 0.22}]
chr8	GH08I123527	123527801	123532398	0.9	[{'connected_gene': 'LOC105375738', 'score': 10.71}, {'connected_gene': 'KLHL38', 'score': 10.25}, {'connected_gene': 'WDYHV1', 'score': 10.0}, {'connected_gene': 'ATAD2', 'score': 10.0}, {'connected_gene': 'DUTP2', 'score': 9.39}, {'connected_gene': 'MIR548AA1', 'score': 9.38}, {'connected_gene': 'RNU6-875P', 'score': 9.38}, {'connected_gene': 'GC08M123523', 'score': 0.77}, {'connected_gene': 'FBXO32', 'score': 0.39}]
chr8	GH08I123579	123579841	123581914	1.05	[{'connected_gene': 'LOC105375738', 'score': 11.71}, {'connected_gene': 'KLHL38', 'score': 10.9}, {'connected_gene': 'ANXA13', 'score': 10.79}, {'connected_gene': 'FBXO32', 'score': 10.72}, {'connected_gene': 'WDYHV1', 'score': 9.9}, {'connected_gene': 'ATAD2', 'score': 9.9}, {'connected_gene': 'RN7SKP155', 'score': 0.44}, {'connected_gene': 'ENSG00000254113', 'score': 0.39}]
chr8	GH08I123592	123592060	123593190	0.96	[{'connected_gene': 'LOC105375738', 'score': 12.8}, {'connected_gene': 'KLHL38', 'score': 11.05}, {'connected_gene': 'FBXO32', 'score': 10.73}, {'connected_gene': 'RN7SKP155', 'score': 0.77}, {'connected_gene': 'GC08P123594', 'score': 0.77}]
chr8	GH08I123550	123550356	123551719	0.69	[{'connected_gene': 'LOC105375738', 'score': 10.72}, {'connected_gene': 'KLHL38', 'score': 9.95}, {'connected_gene': 'GC08P123547', 'score': 0.77}, {'connected_gene': 'ENSG00000254113', 'score': 0.37}]
chr8	GH08I123625	123625301	123625450	0.54	[{'connected_gene': 'LOC105375738', 'score': 0.39}, {'connected_gene': 'KLHL38', 'score': 0.31}, {'connected_gene': 'GC08P123594', 'score': 0.29}]
chr8	GH08I123615	123615157	123615720	0.2	[{'connected_gene': 'LOC105375738', 'score': 550.77}, {'connected_gene': 'GC08P123594', 'score': 0.34}, {'connected_gene': 'KLHL38', 'score': 0.28}]
chr8	GH08I123622	123622257	123623355	0.63	[{'connected_gene': 'LOC105375738', 'score': 0.44}, {'connected_gene': 'GC08P123594', 'score': 0.31}, {'connected_gene': 'KLHL38', 'score': 0.29}]
chr8	GH08I123632	123632053	123634003	0.57	[{'connected_gene': 'LOC105375738', 'score': 0.37}, {'connected_gene': 'KLHL38', 'score': 0.34}, {'connected_gene': 'GC08P123594', 'score': 0.28}]
chr8	GH08I123629	123629523	123631505	1.37	[{'connected_gene': 'LOC105375738', 'score': 0.37}, {'connected_gene': 'KLHL38', 'score': 0.34}, {'connected_gene': 'GC08P123594', 'score': 0.28}]
chr8	GH08I123563	123563549	123564663	0.95	[{'connected_gene': 'LOC105375738', 'score': 11.52}, {'connected_gene': 'FBXO32', 'score': 11.26}, {'connected_gene': 'KLHL38', 'score': 10.67}, {'connected_gene': 'WDYHV1', 'score': 10.31}, {'connected_gene': 'ATAD2', 'score': 10.31}, {'connected_gene': 'FAM83A-AS1', 'score': 9.68}, {'connected_gene': 'ENSG00000254113', 'score': 0.77}, {'connected_gene': 'GC08P123547', 'score': 0.37}]
chr8	GH08I123643	123643579	123645214	0.77	[{'connected_gene': 'LOC105375738', 'score': 11.78}, {'connected_gene': 'FBXO32', 'score': 10.43}, {'connected_gene': 'KLHL38', 'score': 0.44}, {'connected_gene': 'GC08P123594', 'score': 0.25}]
chr8	GH08I123647	123647923	123649121	0.38	[{'connected_gene': 'LOC105375738', 'score': 11.78}, {'connected_gene': 'FBXO32', 'score': 10.42}, {'connected_gene': 'KLHL38', 'score': 0.44}, {'connected_gene': 'GC08P123594', 'score': 0.23}]
chr8	GH08I123645	123645742	123646541	0.51	[{'connected_gene': 'LOC105375738', 'score': 11.78}, {'connected_gene': 'FBXO32', 'score': 10.43}, {'connected_gene': 'KLHL38', 'score': 0.44}, {'connected_gene': 'GC08P123594', 'score': 0.23}]
chr8	GH08I123657	123657359	123659206	1.25	[{'connected_gene': 'RNF139-AS1', 'score': 11.34}, {'connected_gene': 'LOC105375738', 'score': 10.98}, {'connected_gene': 'FBXO32', 'score': 10.3}, {'connected_gene': 'KLHL38', 'score': 0.77}, {'connected_gene': 'GC08P123594', 'score': 0.21}, {'connected_gene': 'LOC105375739', 'score': 0.21}]
chr8	GH08I123546	123546182	123549133	1.22	[{'connected_gene': 'GC08P123547', 'score': 550.77}, {'connected_gene': 'LOC105375738', 'score': 10.46}, {'connected_gene': 'ANXA13', 'score': 10.19}, {'connected_gene': 'KLHL38', 'score': 9.95}, {'connected_gene': 'WDYHV1', 'score': 9.76}, {'connected_gene': 'ATAD2', 'score': 9.76}, {'connected_gene': 'ENSG00000254113', 'score': 0.34}]