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
ENST00000253699	[[15111579, 15116437], [15117112, 15117217], [15118568, 15118671], [15119581, 15119668], [15122238, 15122309], [15123873, 15124115], [15126241, 15126403], [15126506, 15126552], [15127367, 15127468], [15131905, 15132046], [15137479, 15137795], [15138041, 15138217], [15139625, 15139781], [15140541, 15140655]]	[[15115288, 15116437], [15117112, 15117217], [15118568, 15118671], [15119581, 15119668], [15122238, 15122309], [15123873, 15124115], [15126241, 15126403], [15126506, 15126552], [15127367, 15127468], [15131905, 15132046], [15137479, 15137627]]
ENST00000476527	[[15115111, 15116437], [15117112, 15117217], [15118568, 15118671], [15119581, 15119668], [15122238, 15122309], [15123873, 15124115], [15126241, 15126403], [15126506, 15126552], [15127367, 15127468], [15131905, 15132046], [15137479, 15137795], [15138041, 15138217], [15140541, 15140670]]	[[15115288, 15116437], [15117112, 15117217], [15118568, 15118671], [15119581, 15119668], [15122238, 15122309], [15123873, 15124115], [15126241, 15126403], [15126506, 15126552], [15127367, 15127468], [15131905, 15132046], [15137479, 15137627]]
ENST00000426541	[[15116411, 15116437], [15116553, 15116623], [15116796, 15116924], [15117112, 15117217], [15118568, 15118671], [15119581, 15119668], [15122238, 15122309], [15123873, 15123947]]	[[15116894, 15116924], [15117112, 15117217], [15118568, 15118671], [15119581, 15119668], [15122238, 15122309], [15123873, 15123947]]
ENST00000483098	[[15119616, 15119668], [15122238, 15122309], [15122561, 15122841], [15122938, 15123067]]	None
ENST00000449964	[[15119663, 15119668], [15122238, 15122309], [15126241, 15126403], [15126506, 15126552], [15127367, 15127468], [15131905, 15132046], [15137479, 15137795], [15138041, 15138217], [15140541, 15140655]]	None
ENST00000435849	[[15122238, 15122309], [15126241, 15126403], [15126506, 15126552], [15127367, 15127468], [15131905, 15132046], [15137479, 15137795], [15138041, 15138217], [15140541, 15140655]]	[[15122280, 15122309], [15126241, 15126403], [15126506, 15126552], [15127367, 15127468], [15131905, 15132046], [15137479, 15137627]]
ENST00000463214	[[15123984, 15124115], [15126241, 15126403], [15126506, 15126552], [15127367, 15127619]]	None
ENST00000441057	[[15126241, 15126403], [15126506, 15126552], [15127367, 15127468], [15131905, 15132046], [15132845, 15133000], [15137479, 15137795], [15138041, 15138217], [15139625, 15139781], [15140541, 15140640]]	[[15132980, 15133000], [15137479, 15137627]]
ENST00000449050	[[15137177, 15137795], [15138041, 15138217], [15140541, 15140650]]	[[15137360, 15137627]]
ENST00000507357	[[15137504, 15137795], [15138041, 15138217], [15140528, 15140643]]	[[15137504, 15137627]]
NM_022340	[[15111575, 15116437], [15117112, 15117217], [15118568, 15118671], [15119581, 15119668], [15122238, 15122309], [15123873, 15124115], [15126241, 15126403], [15126506, 15126552], [15127367, 15127468], [15131905, 15132046], [15137479, 15137795], [15138041, 15138217], [15139625, 15139781], [15140541, 15140664]]	[[15115288, 15116437], [15117112, 15117217], [15118568, 15118671], [15119581, 15119668], [15122238, 15122309], [15123873, 15124115], [15126241, 15126403], [15126506, 15126552], [15127367, 15127468], [15131905, 15132046], [15137479, 15137627]]
NM_001302378	[[15111575, 15116437], [15117112, 15117217], [15118568, 15118671], [15119581, 15119668], [15122238, 15122309], [15123873, 15124115], [15126241, 15126403], [15126506, 15126552], [15127367, 15127468], [15131905, 15132046], [15137479, 15137795], [15138041, 15138217], [15140541, 15140664]]	[[15115288, 15116437], [15117112, 15117217], [15118568, 15118671], [15119581, 15119668], [15122238, 15122309], [15123873, 15124115], [15126241, 15126403], [15126506, 15126552], [15127367, 15127468], [15131905, 15132046], [15137479, 15137627]]
NR_126155	[[15137177, 15137795], [15138041, 15138217], [15140541, 15140664]]	None

Promoter

Chrom	Start	End	Description
chr3	15140629	15140669	CAGE_peak_1_at_ZFYVE20_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I015323	15323230	15334281	2.46	[{'connected_gene': 'SH3BP5', 'score': 564.87}, {'connected_gene': 'RBSN', 'score': 31.01}, {'connected_gene': 'SH3BP5-AS1', 'score': 20.86}, {'connected_gene': 'CCDC174', 'score': 17.31}, {'connected_gene': 'METTL6', 'score': 15.79}, {'connected_gene': 'NR2C2', 'score': 13.79}, {'connected_gene': 'ENSG00000270409', 'score': 13.73}, {'connected_gene': 'CAPN7', 'score': 13.61}, {'connected_gene': 'HACL1', 'score': 11.12}, {'connected_gene': 'RPS3AP53', 'score': 5.17}, {'connected_gene': 'GC03P015339', 'score': 0.39}, {'connected_gene': 'PIR49400', 'score': 0.19}]
chr3	GH03I015267	15267907	15274199	1.94	[{'connected_gene': 'SH3BP5', 'score': 561.71}, {'connected_gene': 'CCDC174', 'score': 43.14}, {'connected_gene': 'SH3BP5-AS1', 'score': 39.68}, {'connected_gene': 'CAPN7', 'score': 36.98}, {'connected_gene': 'NR2C2', 'score': 23.13}, {'connected_gene': 'RNU6-454P', 'score': 11.72}, {'connected_gene': 'COL6A4P1', 'score': 11.07}, {'connected_gene': 'RNU6-1024P', 'score': 10.76}, {'connected_gene': 'RBSN', 'score': 5.77}, {'connected_gene': 'FGD5-AS1', 'score': 4.79}, {'connected_gene': 'RPS24P10', 'score': 4.5}, {'connected_gene': 'PIR49400', 'score': 0.39}, {'connected_gene': 'GC03P015339', 'score': 0.2}]
chr3	GH03I015534	15534914	15538665	0.31	[{'connected_gene': 'EAF1', 'score': 29.75}, {'connected_gene': 'METTL6', 'score': 17.08}, {'connected_gene': 'EAF1-AS1', 'score': 10.68}, {'connected_gene': 'RNU6-1024P', 'score': 10.62}, {'connected_gene': 'HACL1', 'score': 9.71}, {'connected_gene': 'COL6A4P1', 'score': 9.43}, {'connected_gene': 'CAPN7', 'score': 9.43}, {'connected_gene': 'COLQ', 'score': 9.37}, {'connected_gene': 'RBSN', 'score': 4.74}, {'connected_gene': 'PIR61561', 'score': 0.37}]
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	GH03I015302	15302524	15302774	0.44	[{'connected_gene': 'NR2C2', 'score': 2.6}, {'connected_gene': 'RBSN', 'score': 2.21}, {'connected_gene': 'CAPN7', 'score': 1.97}, {'connected_gene': 'SH3BP5', 'score': 1.67}, {'connected_gene': 'EAF1', 'score': 1.21}, {'connected_gene': 'GC03P015339', 'score': 0.28}, {'connected_gene': 'PIR49400', 'score': 0.26}]
chr3	GH03I014946	14946230	14950923	2.28	[{'connected_gene': 'NR2C2', 'score': 592.53}, {'connected_gene': 'FGD5-AS1', 'score': 561.35}, {'connected_gene': 'CCDC174', 'score': 39.72}, {'connected_gene': 'SH3BP5-AS1', 'score': 25.75}, {'connected_gene': 'ENSG00000228242', 'score': 18.79}, {'connected_gene': 'CAPN7', 'score': 16.5}, {'connected_gene': 'EAF1-AS1', 'score': 12.53}, {'connected_gene': 'HACL1', 'score': 12.41}, {'connected_gene': 'XPC', 'score': 11.97}, {'connected_gene': 'METTL6', 'score': 10.51}, {'connected_gene': 'MRPS25', 'score': 6.18}, {'connected_gene': 'RBSN', 'score': 5.19}, {'connected_gene': 'RPS3AP53', 'score': 4.72}, {'connected_gene': 'PIR42856', 'score': 0.39}]
chr3	GH03I014266	14266344	14269074	0.92	[{'connected_gene': 'SLC6A6', 'score': 11.72}, {'connected_gene': 'XPC', 'score': 10.51}, {'connected_gene': 'LSM3', 'score': 10.51}, {'connected_gene': 'RBSN', 'score': 8.35}, {'connected_gene': 'ENSG00000228242', 'score': 4.95}, {'connected_gene': 'ENSG00000255021', 'score': 0.28}, {'connected_gene': 'LOC105376958', 'score': 0.26}]
chr3	GH03I015097	15097647	15100022	2.14	[{'connected_gene': 'RBSN', 'score': 550.77}, {'connected_gene': 'GC03M015143', 'score': 550.77}, {'connected_gene': 'NR2C2', 'score': 66.49}, {'connected_gene': 'CCDC174', 'score': 58.67}, {'connected_gene': 'SH3BP5-AS1', 'score': 50.03}, {'connected_gene': 'CAPN7', 'score': 48.58}, {'connected_gene': 'ENSG00000228242', 'score': 38.11}, {'connected_gene': 'XPC', 'score': 32.56}, {'connected_gene': 'MRPS25', 'score': 12.36}, {'connected_gene': 'HACL1', 'score': 10.72}, {'connected_gene': 'FGD5', 'score': 9.94}, {'connected_gene': 'EAF1-AS1', 'score': 9.88}, {'connected_gene': 'TMEM43', 'score': 9.7}, {'connected_gene': 'FGD5-AS1', 'score': 6.97}]
chr3	GH03I015068	15068057	15068197	0.22	[{'connected_gene': 'RBSN', 'score': 1.61}, {'connected_gene': 'PIRC12', 'score': 0.77}, {'connected_gene': 'PIR31507', 'score': 0.77}]
chr3	GH03I015118	15118600	15119200	0.74	[{'connected_gene': 'CCDC174', 'score': 15.41}, {'connected_gene': 'SH3BP5-AS1', 'score': 13.86}, {'connected_gene': 'CAPN7', 'score': 13.68}, {'connected_gene': 'NR2C2', 'score': 13.63}, {'connected_gene': 'XPC', 'score': 12.03}, {'connected_gene': 'ENSG00000228242', 'score': 10.33}, {'connected_gene': 'HACL1', 'score': 10.32}, {'connected_gene': 'PIR45003', 'score': 0.44}, {'connected_gene': 'RBSN', 'score': 0.37}]
chr3	GH03I015245	15245109	15245238	0.28	[{'connected_gene': 'CAPN7', 'score': 14.44}, {'connected_gene': 'EAF1', 'score': 13.64}, {'connected_gene': 'METTL6', 'score': 11.76}, {'connected_gene': 'COL6A4P1', 'score': 11.69}, {'connected_gene': 'RNU6-1024P', 'score': 10.37}, {'connected_gene': 'EAF1-AS1', 'score': 9.61}, {'connected_gene': 'SH3BP5', 'score': 3.61}, {'connected_gene': 'NR2C2', 'score': 3.58}, {'connected_gene': 'COLQ', 'score': 2.03}, {'connected_gene': 'RBSN', 'score': 1.61}, {'connected_gene': 'SH3BP5-AS1', 'score': 0.44}]
chr3	GH03I015243	15243972	15244192	0.72	[{'connected_gene': 'CAPN7', 'score': 14.93}, {'connected_gene': 'COL6A4P1', 'score': 11.71}, {'connected_gene': 'NR2C2', 'score': 4.39}, {'connected_gene': 'RBSN', 'score': 3.96}, {'connected_gene': 'SH3BP5', 'score': 2.34}, {'connected_gene': 'SH3BP5-AS1', 'score': 0.39}]
chr3	GH03I015344	15344491	15348977	1.22	[{'connected_gene': 'CAPN7', 'score': 28.46}, {'connected_gene': 'SH3BP5-AS1', 'score': 14.24}, {'connected_gene': 'CCDC174', 'score': 12.83}, {'connected_gene': 'COL6A4P1', 'score': 10.11}, {'connected_gene': 'NR2C2', 'score': 10.04}, {'connected_gene': 'EAF1-AS1', 'score': 7.03}, {'connected_gene': 'RBSN', 'score': 5.02}, {'connected_gene': 'SH3BP5', 'score': 0.44}, {'connected_gene': 'GC03M015375', 'score': 0.31}]
chr3	GH03I015528	15528341	15529951	0.2	[{'connected_gene': 'METTL6', 'score': 11.16}, {'connected_gene': 'EAF1', 'score': 11.14}, {'connected_gene': 'EAF1-AS1', 'score': 10.88}, {'connected_gene': 'RNU6-1024P', 'score': 10.83}, {'connected_gene': 'COLQ', 'score': 7.82}, {'connected_gene': 'HACL1', 'score': 7.19}, {'connected_gene': 'RBSN', 'score': 4.27}, {'connected_gene': 'PIR61561', 'score': 0.31}]
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	GH03I015360	15360396	15363339	1.29	[{'connected_gene': 'EAF1-AS1', 'score': 5.32}, {'connected_gene': 'RBSN', 'score': 5.1}, {'connected_gene': 'GC03M015375', 'score': 0.39}, {'connected_gene': 'SH3BP5', 'score': 0.34}]
chr3	GH03I015252	15252538	15254148	0.69	[{'connected_gene': 'SH3BP5-AS1', 'score': 571.91}, {'connected_gene': 'CAPN7', 'score': 11.05}, {'connected_gene': 'COL6A4P1', 'score': 11.05}, {'connected_gene': 'RNU6-1024P', 'score': 10.63}, {'connected_gene': 'EAF1-AS1', 'score': 10.37}, {'connected_gene': 'RBSN', 'score': 6.23}]
chr3	GH03I015258	15258804	15262690	0.46	[{'connected_gene': 'SH3BP5-AS1', 'score': 19.27}, {'connected_gene': 'CAPN7', 'score': 17.94}, {'connected_gene': 'RNU6-454P', 'score': 11.52}, {'connected_gene': 'SH3BP5', 'score': 11.51}, {'connected_gene': 'COL6A4P1', 'score': 11.14}, {'connected_gene': 'EAF1-AS1', 'score': 10.98}, {'connected_gene': 'RNU6-1024P', 'score': 10.63}, {'connected_gene': 'RBSN', 'score': 5.19}, {'connected_gene': 'PIR49400', 'score': 0.77}, {'connected_gene': 'GC03P015339', 'score': 0.18}]
chr3	GH03I015180	15180085	15181025	0.64	[{'connected_gene': 'SH3BP5-AS1', 'score': 18.43}, {'connected_gene': 'RPS24P10', 'score': 11.86}, {'connected_gene': 'CAPN7', 'score': 11.19}, {'connected_gene': 'COL6A4P1', 'score': 11.19}, {'connected_gene': 'RBSN', 'score': 11.01}, {'connected_gene': 'RPS3AP53', 'score': 0.28}]
chr3	GH03I015101	15101432	15103542	0.87	[{'connected_gene': 'FGD5-AS1', 'score': 7.3}, {'connected_gene': 'RBSN', 'score': 0.77}, {'connected_gene': 'PIR45003', 'score': 0.34}]
chr3	GH03I015108	15108001	15108600	0.97	[{'connected_gene': 'FGD5-AS1', 'score': 5.83}, {'connected_gene': 'RBSN', 'score': 0.44}, {'connected_gene': 'PIR45003', 'score': 0.37}]
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}]
chr3	GH03I015256	15256594	15257333	0.51	[{'connected_gene': 'PIR49400', 'score': 550.77}, {'connected_gene': 'CAPN7', 'score': 17.93}, {'connected_gene': 'COL6A4P1', 'score': 11.17}, {'connected_gene': 'RBSN', 'score': 4.59}, {'connected_gene': 'SH3BP5-AS1', 'score': 0.77}, {'connected_gene': 'SH3BP5', 'score': 0.18}]