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
ENST00000295767	[[14153579, 14154694], [14157925, 14158024], [14163416, 14163586], [14166154, 14166370]]	[[14154386, 14154694], [14157925, 14158024], [14163416, 14163477]]
ENST00000396914	[[14153592, 14154694], [14157925, 14158024], [14166154, 14166358]]	[[14154386, 14154694], [14157925, 14158024], [14166154, 14166176]]
ENST00000420103	[[14154643, 14154694], [14157925, 14158024], [14160644, 14160813], [14163416, 14163586], [14166154, 14166249]]	[[14163506, 14163586], [14166154, 14166176]]
NM_144636	[[14153576, 14154694], [14157925, 14158024], [14163416, 14163586], [14166154, 14166371]]	[[14154386, 14154694], [14157925, 14158024], [14163416, 14163477]]
NM_001098502	[[14153576, 14154694], [14157925, 14158024], [14166154, 14166371]]	[[14154386, 14154694], [14157925, 14158024], [14166154, 14166176]]

Promoter

Chrom	Start	End	Description
chr3	14166209	14166283	CAGE_peak_2_at_CHCHD4_5end
chr3	14166316	14166383	CAGE_peak_1_at_CHCHD4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I014169	14169854	14172089	0.98	[{'connected_gene': 'TMEM43', 'score': 11.43}, {'connected_gene': 'CHCHD4', 'score': 11.43}, {'connected_gene': 'XPC', 'score': 8.66}, {'connected_gene': 'LSM3', 'score': 0.44}, {'connected_gene': 'ENSG00000228242', 'score': 0.31}]
chr3	GH03I014156	14156152	14157854	0.2	[{'connected_gene': 'XPC', 'score': 12.14}, {'connected_gene': 'LSM3', 'score': 12.14}, {'connected_gene': 'TMEM43', 'score': 11.88}, {'connected_gene': 'CHCHD4', 'score': 11.88}, {'connected_gene': 'RBSN', 'score': 4.38}, {'connected_gene': 'ENSG00000228242', 'score': 0.39}]
chr3	GH03I014177	14177306	14180101	2.1	[{'connected_gene': 'XPC', 'score': 582.37}, {'connected_gene': 'LSM3', 'score': 572.82}, {'connected_gene': 'CCDC174', 'score': 32.55}, {'connected_gene': 'CHCHD4', 'score': 21.44}, {'connected_gene': 'ENSG00000228242', 'score': 19.06}, {'connected_gene': 'TMEM43', 'score': 16.95}, {'connected_gene': 'NR2C2', 'score': 14.06}, {'connected_gene': 'MRPS25', 'score': 9.72}]
chr3	GH03I014114	14114061	14114210	0.52	[{'connected_gene': 'XPC', 'score': 10.89}, {'connected_gene': 'LSM3', 'score': 10.89}, {'connected_gene': 'CHCHD4', 'score': 0.39}, {'connected_gene': 'VN1R21P', 'score': 0.34}]
chr3	GH03I014000	14000314	14002184	0.59	[{'connected_gene': 'WNT7A', 'score': 9.51}, {'connected_gene': 'TPRXL', 'score': 7.26}, {'connected_gene': 'XPC', 'score': 6.81}, {'connected_gene': 'VN1R20P', 'score': 5.04}, {'connected_gene': 'CHCHD4', 'score': 4.72}, {'connected_gene': 'PIR57574', 'score': 0.28}, {'connected_gene': 'VN1R21P', 'score': 0.17}]
chr3	GH03I013580	13580268	13583347	0.66	[{'connected_gene': 'WNT7A', 'score': 9.61}, {'connected_gene': 'CHCHD4', 'score': 4.28}, {'connected_gene': 'GC03P013574', 'score': 0.44}, {'connected_gene': 'FBLN2', 'score': 0.29}, {'connected_gene': 'GC03M014469', 'score': 0.29}]
chr3	GH03I014207	14207582	14212707	1.09	[{'connected_gene': 'SLC6A6', 'score': 14.21}, {'connected_gene': 'XPC', 'score': 6.24}, {'connected_gene': 'C3orf20', 'score': 4.69}, {'connected_gene': 'CHCHD4', 'score': 4.55}, {'connected_gene': 'GC03P014217', 'score': 0.44}]
chr3	GH03I014016	14016581	14017832	0.59	[{'connected_gene': 'TPRXL', 'score': 7.27}, {'connected_gene': 'CHCHD4', 'score': 6.72}, {'connected_gene': 'PIR57574', 'score': 0.23}, {'connected_gene': 'VN1R21P', 'score': 0.19}]
chr3	GH03I013890	13890306	13891817	1.25	[{'connected_gene': 'LINC00620', 'score': 11.17}, {'connected_gene': 'TMEM43', 'score': 10.23}, {'connected_gene': 'CHCHD4', 'score': 10.23}, {'connected_gene': 'VN1R20P', 'score': 8.0}, {'connected_gene': 'LOC105376957', 'score': 0.77}, {'connected_gene': 'WNT7A', 'score': 0.39}]
chr3	GH03I014122	14122550	14127923	2.59	[{'connected_gene': 'CHCHD4', 'score': 565.83}, {'connected_gene': 'TMEM43', 'score': 557.46}, {'connected_gene': 'CCDC174', 'score': 31.24}, {'connected_gene': 'XPC', 'score': 30.11}, {'connected_gene': 'NR2C2', 'score': 19.28}, {'connected_gene': 'ENSG00000228242', 'score': 12.56}, {'connected_gene': 'VN1R20P', 'score': 7.49}, {'connected_gene': 'TPRXL', 'score': 6.96}, {'connected_gene': 'ENSG00000268279', 'score': 0.44}]
chr3	GH03I014199	14199614	14201438	0.78	[{'connected_gene': 'CHCHD4', 'score': 7.92}, {'connected_gene': 'XPC', 'score': 7.54}, {'connected_gene': 'GC03P014217', 'score': 0.37}, {'connected_gene': 'LSM3', 'score': 0.34}]
chr3	GH03I014174	14174909	14176600	0.89	[{'connected_gene': 'CHCHD4', 'score': 8.73}, {'connected_gene': 'RBSN', 'score': 4.25}, {'connected_gene': 'XPC', 'score': 0.77}, {'connected_gene': 'LSM3', 'score': 0.77}, {'connected_gene': 'ENSG00000228242', 'score': 0.29}]
chr3	GH03I014118	14118357	14122499	1.17	[{'connected_gene': 'CHCHD4', 'score': 15.83}, {'connected_gene': 'VN1R20P', 'score': 5.76}, {'connected_gene': 'RBSN', 'score': 5.74}, {'connected_gene': 'VN1R21P', 'score': 0.29}]
chr3	GH03I014091	14091801	14092000	0.2	[{'connected_gene': 'VN1R21P', 'score': 0.77}, {'connected_gene': 'CHCHD4', 'score': 0.29}]
chr3	GH03I014166	14166620	14168549	0.2	[{'connected_gene': 'ENSG00000228242', 'score': 12.53}, {'connected_gene': 'TMEM43', 'score': 11.44}, {'connected_gene': 'CHCHD4', 'score': 11.44}, {'connected_gene': 'XPC', 'score': 6.99}, {'connected_gene': 'LSM3', 'score': 0.39}]
chr3	GH03I014132	14132785	14133950	0.66	[{'connected_gene': 'ENSG00000268279', 'score': 550.77}, {'connected_gene': 'XPC', 'score': 17.57}, {'connected_gene': 'LSM3', 'score': 10.75}, {'connected_gene': 'CHCHD4', 'score': 7.22}, {'connected_gene': 'TPRXL', 'score': 6.88}, {'connected_gene': 'TMEM43', 'score': 0.44}]
chr3	GH03I014140	14140511	14149010	1.36	[{'connected_gene': 'ENSG00000228242', 'score': 550.77}, {'connected_gene': 'XPC', 'score': 19.87}, {'connected_gene': 'VN1R20P', 'score': 14.53}, {'connected_gene': 'LSM3', 'score': 12.32}, {'connected_gene': 'CHCHD4', 'score': 9.02}, {'connected_gene': 'TMEM43', 'score': 5.21}, {'connected_gene': 'RBSN', 'score': 4.44}, {'connected_gene': 'ENSG00000268279', 'score': 0.44}]