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
ENST00000303545	[[125486978, 125487531], [125498071, 125500155]]	[[125487350, 125487531], [125498071, 125499885]]
ENST00000517684	[[125495585, 125495648], [125498071, 125498475]]	[[125498271, 125498475]]
NM_007218	[[125487007, 125487531], [125498071, 125500859]]	[[125487350, 125487531], [125498071, 125499885]]

Promoter

Chrom	Start	End	Description
chr8	125486939	125487026	CAGE_peak_2_at_RNF139_5end
chr8	125487084	125487163	CAGE_peak_1_at_RNF139_5end
chr8	125487288	125487347	CAGE_peak_3_at_RNF139_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I124633	124633892	124645152	1.71	[{'connected_gene': 'MTSS1', 'score': 13.15}, {'connected_gene': 'TATDN1', 'score': 10.59}, {'connected_gene': 'RNF139', 'score': 5.3}, {'connected_gene': 'ZNF572', 'score': 1.9}, {'connected_gene': 'GC08P124592', 'score': 0.25}, {'connected_gene': 'GC08P124718', 'score': 0.18}]
chr8	GH08I124626	124626120	124632249	1.77	[{'connected_gene': 'MTSS1', 'score': 14.05}, {'connected_gene': 'SQLE', 'score': 10.37}, {'connected_gene': 'LOC105375744', 'score': 10.37}, {'connected_gene': 'NSMCE2', 'score': 7.03}, {'connected_gene': 'TRMT12', 'score': 4.58}, {'connected_gene': 'RNF139', 'score': 3.34}, {'connected_gene': 'WASHC5', 'score': 3.12}, {'connected_gene': 'ZNF572', 'score': 1.95}, {'connected_gene': 'GC08P124592', 'score': 0.28}, {'connected_gene': 'GC08P124718', 'score': 0.17}]
chr8	GH08I124761	124761431	124762912	1.12	[{'connected_gene': 'MTSS1', 'score': 21.12}, {'connected_gene': 'NSMCE2', 'score': 11.51}, {'connected_gene': 'WASHC5', 'score': 3.96}, {'connected_gene': 'RNF139', 'score': 2.46}, {'connected_gene': 'GC08P124786', 'score': 0.34}, {'connected_gene': 'LOC105375741', 'score': 0.29}]
chr8	GH08I124702	124702852	124703182	0.7	[{'connected_gene': 'MTSS1', 'score': 13.81}, {'connected_gene': 'NSMCE2', 'score': 8.53}, {'connected_gene': 'WASHC5', 'score': 2.69}, {'connected_gene': 'RNF139', 'score': 1.99}, {'connected_gene': 'GC08P124718', 'score': 0.37}, {'connected_gene': 'GC08P124592', 'score': 0.14}]
chr8	GH08I124750	124750522	124753087	1.49	[{'connected_gene': 'MTSS1', 'score': 21.41}, {'connected_gene': 'NSMCE2', 'score': 4.63}, {'connected_gene': 'TATDN1', 'score': 4.54}, {'connected_gene': 'RNF139', 'score': 2.98}, {'connected_gene': 'ZNF572', 'score': 1.74}, {'connected_gene': 'WASHC5', 'score': 1.64}, {'connected_gene': 'LOC105375741', 'score': 0.34}, {'connected_gene': 'GC08P124786', 'score': 0.29}]
chr8	GH08I124592	124592782	124597040	1.51	[{'connected_gene': 'MTSS1', 'score': 13.44}, {'connected_gene': 'ZNF572', 'score': 12.27}, {'connected_gene': 'NDUFB9', 'score': 10.87}, {'connected_gene': 'TATDN1', 'score': 10.87}, {'connected_gene': 'SQLE', 'score': 10.33}, {'connected_gene': 'LOC105375744', 'score': 10.33}, {'connected_gene': 'TRMT12', 'score': 6.38}, {'connected_gene': 'NSMCE2', 'score': 3.12}, {'connected_gene': 'RNF139', 'score': 1.78}, {'connected_gene': 'WASHC5', 'score': 1.29}, {'connected_gene': 'GC08P124592', 'score': 0.77}, {'connected_gene': 'GC08P124718', 'score': 0.13}]
chr8	GH08I124603	124603375	124608831	1.47	[{'connected_gene': 'MTSS1', 'score': 11.97}, {'connected_gene': 'ZNF572', 'score': 11.63}, {'connected_gene': 'RNF139', 'score': 3.23}, {'connected_gene': 'GC08P124592', 'score': 0.39}, {'connected_gene': 'GC08P124718', 'score': 0.14}]
chr8	GH08I124653	124653831	124656386	1.46	[{'connected_gene': 'MTSS1', 'score': 11.74}, {'connected_gene': 'RNF139', 'score': 1.86}, {'connected_gene': 'GC08P124592', 'score': 0.21}, {'connected_gene': 'GC08P124718', 'score': 0.21}]
chr8	GH08I124996	124996795	125002127	2.02	[{'connected_gene': 'SQLE', 'score': 550.77}, {'connected_gene': 'LOC105375744', 'score': 550.77}, {'connected_gene': 'TRMT12', 'score': 14.95}, {'connected_gene': 'RNF139', 'score': 14.4}, {'connected_gene': 'LOC105375740', 'score': 11.81}, {'connected_gene': 'RNF139-AS1', 'score': 11.06}, {'connected_gene': 'LINC00964', 'score': 8.64}, {'connected_gene': 'TATDN1', 'score': 4.39}, {'connected_gene': 'GC08P125034', 'score': 0.28}]
chr8	GH08I124194	124194017	124202681	1.74	[{'connected_gene': 'TRMT12', 'score': 34.73}, {'connected_gene': 'FAM91A1', 'score': 33.34}, {'connected_gene': 'TMEM65', 'score': 30.96}, {'connected_gene': 'WASHC5', 'score': 30.4}, {'connected_gene': 'WASHC5-AS1', 'score': 29.88}, {'connected_gene': 'RNF139-AS1', 'score': 22.34}, {'connected_gene': 'ZNF572', 'score': 19.71}, {'connected_gene': 'RNF139', 'score': 16.81}, {'connected_gene': 'NSMCE2', 'score': 13.44}, {'connected_gene': 'FER1L6-AS2', 'score': 12.96}, {'connected_gene': 'LOC105375740', 'score': 11.82}, {'connected_gene': 'RNU6-756P', 'score': 11.37}, {'connected_gene': 'ENSG00000254249', 'score': 11.31}, {'connected_gene': 'FER1L6-AS1', 'score': 11.31}, {'connected_gene': 'TATDN1', 'score': 10.49}, {'connected_gene': 'ENSG00000253106', 'score': 10.21}, {'connected_gene': 'WDYHV1', 'score': 9.66}, {'connected_gene': 'ANXA13', 'score': 4.87}, {'connected_gene': 'LOC101927588', 'score': 0.25}]
chr8	GH08I124524	124524939	124529577	1.42	[{'connected_gene': 'TRMT12', 'score': 41.91}, {'connected_gene': 'RNF139', 'score': 1.36}, {'connected_gene': 'NDUFB9', 'score': 0.39}, {'connected_gene': 'TATDN1', 'score': 0.39}, {'connected_gene': 'MIR6844', 'score': 0.37}, {'connected_gene': 'GC08P124382', 'score': 0.11}]
chr8	GH08I124351	124351600	124352329	0.92	[{'connected_gene': 'TRMT12', 'score': 15.07}, {'connected_gene': 'RNF139', 'score': 14.49}, {'connected_gene': 'TMEM65', 'score': 12.75}, {'connected_gene': 'LOC105375740', 'score': 11.84}, {'connected_gene': 'GC08M124331', 'score': 0.39}]
chr8	GH08I124780	124780419	124783612	1.34	[{'connected_gene': 'TRMT12', 'score': 14.98}, {'connected_gene': 'RNF139', 'score': 14.32}, {'connected_gene': 'LOC105375740', 'score': 11.84}, {'connected_gene': 'TATDN1', 'score': 10.51}, {'connected_gene': 'MTSS1', 'score': 6.96}, {'connected_gene': 'NSMCE2', 'score': 5.17}, {'connected_gene': 'WASHC5', 'score': 2.44}, {'connected_gene': 'GC08P124786', 'score': 0.77}, {'connected_gene': 'LOC105375741', 'score': 0.23}]
chr8	GH08I124449	124449800	124452046	2.02	[{'connected_gene': 'TRMT12', 'score': 628.13}, {'connected_gene': 'ENSG00000253106', 'score': 25.82}, {'connected_gene': 'WASHC5-AS1', 'score': 23.59}, {'connected_gene': 'FAM91A1', 'score': 19.74}, {'connected_gene': 'RNF139', 'score': 11.41}, {'connected_gene': 'WASHC5', 'score': 11.25}, {'connected_gene': 'RNF139-AS1', 'score': 10.1}, {'connected_gene': 'NSMCE2', 'score': 9.78}, {'connected_gene': 'LOC105375740', 'score': 6.13}, {'connected_gene': 'GC08M124446', 'score': 0.77}, {'connected_gene': 'GC08P124382', 'score': 0.2}]
chr8	GH08I124228	124228031	124229384	0.85	[{'connected_gene': 'TRMT12', 'score': 14.77}, {'connected_gene': 'WASHC5-AS1', 'score': 14.24}, {'connected_gene': 'FAM91A1', 'score': 11.63}, {'connected_gene': 'RNU6-756P', 'score': 11.54}, {'connected_gene': 'RNF139', 'score': 11.14}, {'connected_gene': 'FER1L6-AS2', 'score': 10.37}, {'connected_gene': 'LOC101927588', 'score': 0.37}]
chr8	GH08I124537	124537283	124540516	2.07	[{'connected_gene': 'NDUFB9', 'score': 550.77}, {'connected_gene': 'TATDN1', 'score': 550.77}, {'connected_gene': 'TRMT12', 'score': 43.01}, {'connected_gene': 'FAM91A1', 'score': 30.23}, {'connected_gene': 'WASHC5', 'score': 20.18}, {'connected_gene': 'WASHC5-AS1', 'score': 10.4}, {'connected_gene': 'RNF139', 'score': 10.32}, {'connected_gene': 'RNF139-AS1', 'score': 10.32}, {'connected_gene': 'LOC105375740', 'score': 5.86}, {'connected_gene': 'MIR6844', 'score': 0.29}, {'connected_gene': 'GC08P124382', 'score': 0.1}]
chr8	GH08I124771	124771209	124774503	1.64	[{'connected_gene': 'NSMCE2', 'score': 6.92}, {'connected_gene': 'WASHC5', 'score': 2.56}, {'connected_gene': 'MTSS1', 'score': 2.04}, {'connected_gene': 'RNF139', 'score': 1.94}, {'connected_gene': 'ZNF572', 'score': 1.35}, {'connected_gene': 'GC08P124786', 'score': 0.39}, {'connected_gene': 'LOC105375741', 'score': 0.26}]
chr8	GH08I124865	124865790	124868245	1.37	[{'connected_gene': 'NSMCE2', 'score': 8.87}, {'connected_gene': 'MTSS1', 'score': 6.85}, {'connected_gene': 'WASHC5', 'score': 3.37}, {'connected_gene': 'RNF139', 'score': 2.18}, {'connected_gene': 'ZNF572', 'score': 1.45}, {'connected_gene': 'LOC105375743', 'score': 0.44}, {'connected_gene': 'LINC00964', 'score': 0.37}, {'connected_gene': 'PIRC35', 'score': 0.31}]
chr8	GH08I124789	124789118	124791464	1.44	[{'connected_gene': 'NSMCE2', 'score': 5.85}, {'connected_gene': 'MTSS1', 'score': 5.24}, {'connected_gene': 'WASHC5', 'score': 1.77}, {'connected_gene': 'RNF139', 'score': 1.3}, {'connected_gene': 'GC08P124786', 'score': 0.77}, {'connected_gene': 'MIR4662A', 'score': 0.29}]
chr8	GH08I124802	124802919	124803111	0.74	[{'connected_gene': 'NSMCE2', 'score': 6.35}, {'connected_gene': 'MTSS1', 'score': 2.35}, {'connected_gene': 'RNF139', 'score': 1.99}, {'connected_gene': 'WASHC5', 'score': 1.97}, {'connected_gene': 'ZNF572', 'score': 1.43}, {'connected_gene': 'MIR4662A', 'score': 0.37}, {'connected_gene': 'GC08P124786', 'score': 0.37}]
chr8	GH08I124685	124685163	124690874	1.37	[{'connected_gene': 'FAM91A1', 'score': 31.49}, {'connected_gene': 'WASHC5-AS1', 'score': 31.23}, {'connected_gene': 'ZNF572', 'score': 19.78}, {'connected_gene': 'TRMT12', 'score': 14.77}, {'connected_gene': 'MTSS1', 'score': 12.4}, {'connected_gene': 'WASHC5', 'score': 11.99}, {'connected_gene': 'RNF139', 'score': 11.15}, {'connected_gene': 'NDUFB9', 'score': 9.89}, {'connected_gene': 'TATDN1', 'score': 9.89}, {'connected_gene': 'GC08P124718', 'score': 0.29}, {'connected_gene': 'GC08P124592', 'score': 0.15}]
chr8	GH08I124290	124290219	124290571	0.25	[{'connected_gene': 'TMEM65', 'score': 4.01}, {'connected_gene': 'RNF139', 'score': 1.38}, {'connected_gene': 'ENSG00000237586', 'score': 0.39}, {'connected_gene': 'ENSG00000253227', 'score': 0.37}]
chr8	GH08I124972	124972679	124974476	2.01	[{'connected_gene': 'ZNF572', 'score': 550.13}, {'connected_gene': 'TRMT12', 'score': 14.73}, {'connected_gene': 'WASHC5-AS1', 'score': 14.42}, {'connected_gene': 'RNF139', 'score': 11.11}, {'connected_gene': 'PIR59755', 'score': 0.77}, {'connected_gene': 'PIR40025', 'score': 0.44}]
chr8	GH08I124708	124708256	124711826	1.43	[{'connected_gene': 'ZNF572', 'score': 10.67}, {'connected_gene': 'NDUFB9', 'score': 9.53}, {'connected_gene': 'TATDN1', 'score': 9.53}, {'connected_gene': 'NSMCE2', 'score': 8.12}, {'connected_gene': 'MTSS1', 'score': 3.77}, {'connected_gene': 'WASHC5', 'score': 2.69}, {'connected_gene': 'RNF139', 'score': 2.61}, {'connected_gene': 'GC08P124718', 'score': 0.44}, {'connected_gene': 'GC08P124592', 'score': 0.13}]
chr8	GH08I124471	124471336	124477178	2.31	[{'connected_gene': 'RNF139', 'score': 550.77}, {'connected_gene': 'RNF139-AS1', 'score': 550.77}, {'connected_gene': 'TRMT12', 'score': 59.76}, {'connected_gene': 'WASHC5-AS1', 'score': 12.9}, {'connected_gene': 'FAM91A1', 'score': 11.57}, {'connected_gene': 'WASHC5', 'score': 11.38}, {'connected_gene': 'TATDN1', 'score': 10.64}, {'connected_gene': 'LOC105375740', 'score': 5.95}, {'connected_gene': 'GC08M124446', 'score': 0.37}, {'connected_gene': 'GC08P124382', 'score': 0.16}]
chr8	GH08I124479	124479198	124479525	0.54	[{'connected_gene': 'RNF139', 'score': 0.77}, {'connected_gene': 'GC08P124487', 'score': 0.44}, {'connected_gene': 'GC08P124382', 'score': 0.15}]
chr8	GH08I124260	124260690	124263823	1.54	[{'connected_gene': 'RNU6-756P', 'score': 550.77}, {'connected_gene': 'GC08P124263', 'score': 550.77}, {'connected_gene': 'ENSG00000253227', 'score': 19.36}, {'connected_gene': 'RNF139', 'score': 11.62}, {'connected_gene': 'TATDN1', 'score': 10.5}, {'connected_gene': 'WDYHV1', 'score': 9.66}, {'connected_gene': 'FAM91A1', 'score': 3.21}]
chr8	GH08I125312	125312513	125313408	0.99	[{'connected_gene': 'WASHC5-AS1', 'score': 22.62}, {'connected_gene': 'TRMT12', 'score': 14.72}, {'connected_gene': 'RNF139', 'score': 11.1}, {'connected_gene': 'ENSG00000254431', 'score': 11.09}, {'connected_gene': 'TRIB1', 'score': 10.71}, {'connected_gene': 'RN7SL329P', 'score': 0.26}, {'connected_gene': 'NSMCE2', 'score': 0.07}]
chr8	GH08I124509	124509665	124511485	0.31	[{'connected_gene': 'MIR6844', 'score': 550.77}, {'connected_gene': 'TRMT12', 'score': 45.58}, {'connected_gene': 'ENSG00000253106', 'score': 12.02}, {'connected_gene': 'RNF139', 'score': 11.26}, {'connected_gene': 'RNF139-AS1', 'score': 11.26}, {'connected_gene': 'NDUFB9', 'score': 11.2}, {'connected_gene': 'TATDN1', 'score': 11.2}, {'connected_gene': 'LOC105375740', 'score': 5.79}, {'connected_gene': 'GC08P124382', 'score': 0.13}]
chr8	GH08I125385	125385602	125389342	1.56	[{'connected_gene': 'TRIB1', 'score': 17.55}, {'connected_gene': 'TRMT12', 'score': 14.94}, {'connected_gene': 'RNF139', 'score': 14.39}, {'connected_gene': 'LOC105375740', 'score': 11.79}, {'connected_gene': 'NSMCE2', 'score': 3.61}, {'connected_gene': 'WASHC5', 'score': 1.87}, {'connected_gene': 'GC08P125376', 'score': 0.39}]
chr8	GH08I124784	124784801	124785530	0.94	[{'connected_gene': 'GC08P124786', 'score': 550.77}, {'connected_gene': 'NSMCE2', 'score': 8.68}, {'connected_gene': 'MTSS1', 'score': 6.21}, {'connected_gene': 'WASHC5', 'score': 3.33}, {'connected_gene': 'RNF139', 'score': 2.01}, {'connected_gene': 'LOC105375741', 'score': 0.22}]
chr8	GH08I124266	124266985	124267757	1.15	[{'connected_gene': 'ENSG00000253227', 'score': 20.27}, {'connected_gene': 'FAM91A1', 'score': 2.93}, {'connected_gene': 'RNF139', 'score': 1.64}, {'connected_gene': 'RNU6-756P', 'score': 0.44}]
chr8	GH08I124254	124254272	124256113	1.04	[{'connected_gene': 'ENSG00000253227', 'score': 19.17}, {'connected_gene': 'FAM91A1', 'score': 2.33}, {'connected_gene': 'RNF139', 'score': 1.23}, {'connected_gene': 'GC08P124263', 'score': 0.44}, {'connected_gene': 'LOC101927588', 'score': 0.44}]