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
ENST00000434640	[[3118607, 3118796], [3119518, 3119746], [3123890, 3123994], [3127475, 3127642], [3129278, 3129432], [3137595, 3137727], [3140619, 3140743], [3152721, 3152809]]	[[3119690, 3119746], [3123890, 3123994], [3127475, 3127642], [3129278, 3129432], [3137595, 3137727], [3140619, 3140743], [3152721, 3152809]]
ENST00000424847	[[3118609, 3119081], [3119518, 3119746], [3123890, 3123994], [3127475, 3127642], [3129278, 3129432], [3137595, 3137727], [3140619, 3140743], [3152721, 3152903]]	[[3118974, 3119081], [3119518, 3119546]]
ENST00000380368	[[3118609, 3119081], [3119518, 3119746], [3123890, 3123994], [3127475, 3127642], [3129278, 3129432], [3137595, 3137656], [3138274, 3138413], [3140619, 3140743], [3152721, 3153428]]	[[3119690, 3119746], [3123890, 3123994], [3127475, 3127642], [3129278, 3129432], [3137595, 3137656], [3138274, 3138317]]
ENST00000380375	[[3118609, 3119081], [3119518, 3119746], [3123890, 3123994], [3127475, 3127642], [3129278, 3129432], [3137595, 3137727], [3140619, 3140743], [3152721, 3153428]]	[[3119690, 3119746], [3123890, 3123994], [3127475, 3127642], [3129278, 3129432], [3137595, 3137727], [3140619, 3140743], [3152721, 3152809]]
ENST00000430655	[[3118609, 3119081], [3119518, 3119746], [3123890, 3123994], [3127475, 3127642], [3129278, 3129432], [3137595, 3137656], [3138274, 3138413], [3140619, 3140743], [3152721, 3153429]]	[[3118974, 3119081], [3119518, 3119546]]
ENST00000433912	[[3118925, 3119081], [3123890, 3123994], [3127475, 3127642], [3129278, 3129432], [3137595, 3137656], [3138274, 3138413], [3140619, 3140743], [3152721, 3152879]]	[[3118974, 3119081], [3123890, 3123994], [3127475, 3127642], [3129278, 3129432], [3137595, 3137656], [3138274, 3138317]]
ENST00000380379	[[3118925, 3119081], [3123890, 3123994], [3127475, 3127642], [3129278, 3129432], [3137595, 3137727], [3140619, 3140743], [3152721, 3153812]]	[[3118974, 3119081], [3123890, 3123994], [3127475, 3127642], [3129278, 3129432], [3137595, 3137727], [3140619, 3140743], [3152721, 3152809]]
ENST00000490918	[[3118959, 3119081], [3123890, 3123994], [3127475, 3127642], [3129278, 3129432], [3137595, 3137727], [3138274, 3140743], [3152721, 3153296]]	None
ENST00000488487	[[3127029, 3127642], [3129278, 3129432], [3137595, 3137656], [3138274, 3138413], [3140619, 3140743], [3152721, 3152767]]	None
ENST00000423798	[[3140658, 3140743], [3152771, 3153262]]	[[3140658, 3140743], [3152771, 3152775]]
ENST00000479273	[[3118961, 3119081], [3123890, 3124377]]	None
ENST00000464040	[[3150247, 3150379], [3152721, 3153280]]	None
NR_026649	[[3118609, 3119081], [3123890, 3123994], [3127475, 3127642], [3129278, 3129432], [3137595, 3137656], [3138274, 3138413], [3140619, 3140743], [3152721, 3153432]]	None
NM_004332	[[3118609, 3119081], [3123890, 3123994], [3127475, 3127642], [3129278, 3129432], [3137595, 3137727], [3140619, 3140743], [3152721, 3153432]]	[[3118974, 3119081], [3123890, 3123994], [3127475, 3127642], [3129278, 3129432], [3137595, 3137727], [3140619, 3140743], [3152721, 3152809]]
NR_026648	[[3118609, 3119081], [3119518, 3119746], [3123890, 3123994], [3127475, 3127642], [3129278, 3129432], [3137595, 3137656], [3138274, 3138413], [3140619, 3140743], [3152721, 3153432]]	None
NM_001302777	[[3118609, 3119081], [3119518, 3119746], [3123890, 3123994], [3127475, 3127642], [3129278, 3129432], [3137595, 3137727], [3140619, 3140743], [3152721, 3153432]]	[[3119690, 3119746], [3123890, 3123994], [3127475, 3127642], [3129278, 3129432], [3137595, 3137727], [3140619, 3140743], [3152721, 3152809]]

Promoter

Chrom	Start	End	Description
chr6	3118929	3118976	CAGE_peak_1_at_BPHL_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I003073	3073562	3077179	1.42	[{'connected_gene': 'RIPK1', 'score': 564.17}, {'connected_gene': 'GC06P003076', 'score': 550.77}, {'connected_gene': 'BPHL', 'score': 12.79}, {'connected_gene': 'TUBB2B', 'score': 10.65}, {'connected_gene': 'PSMG4', 'score': 10.65}, {'connected_gene': 'TUBB2A', 'score': 4.9}, {'connected_gene': 'GC06M003076', 'score': 0.77}, {'connected_gene': 'ENSG00000272277', 'score': 0.44}]
chr6	GH06I003063	3063267	3065001	1.66	[{'connected_gene': 'RIPK1', 'score': 550.77}, {'connected_gene': 'ENSG00000272277', 'score': 42.47}, {'connected_gene': 'LINC01011', 'score': 11.28}, {'connected_gene': 'NQO2', 'score': 11.28}, {'connected_gene': 'BPHL', 'score': 11.11}, {'connected_gene': 'HTATSF1P2', 'score': 10.21}]
chr6	GH06I003065	3065292	3065792	0.49	[{'connected_gene': 'RIPK1', 'score': 550.77}, {'connected_gene': 'LINC01011', 'score': 11.28}, {'connected_gene': 'NQO2', 'score': 11.28}, {'connected_gene': 'BPHL', 'score': 11.11}, {'connected_gene': 'ENSG00000272277', 'score': 0.77}]
chr6	GH06I003242	3242886	3243140	0.22	[{'connected_gene': 'TUBB2A', 'score': 12.57}, {'connected_gene': 'BPHL', 'score': 11.17}, {'connected_gene': 'ENSG00000228170', 'score': 10.87}, {'connected_gene': 'TUBB2B', 'score': 3.02}, {'connected_gene': 'PSMG4', 'score': 0.39}, {'connected_gene': 'PIR45758', 'score': 0.34}]
chr6	GH06I003246	3246622	3249686	1.53	[{'connected_gene': 'TUBB2A', 'score': 20.87}, {'connected_gene': 'TUBB2B', 'score': 17.06}, {'connected_gene': 'ENSG00000228170', 'score': 11.32}, {'connected_gene': 'BPHL', 'score': 10.93}, {'connected_gene': 'SLC22A23', 'score': 2.0}, {'connected_gene': 'PIR45758', 'score': 0.37}, {'connected_gene': 'PSMG4', 'score': 0.37}]
chr6	GH06I003171	3171485	3173085	0.85	[{'connected_gene': 'TUBB2A', 'score': 43.28}, {'connected_gene': 'TUBB2B', 'score': 16.01}, {'connected_gene': 'PSMG4', 'score': 11.61}, {'connected_gene': 'BPHL', 'score': 10.88}, {'connected_gene': 'TUBB2BP1', 'score': 0.44}, {'connected_gene': 'LOC105374889', 'score': 0.39}, {'connected_gene': 'GC06M003095', 'score': 0.37}, {'connected_gene': 'GC06P003150', 'score': 0.34}]
chr6	GH06I003156	3156309	3167906	2.78	[{'connected_gene': 'TUBB2A', 'score': 63.25}, {'connected_gene': 'TUBB2B', 'score': 53.37}, {'connected_gene': 'TUBB2BP1', 'score': 39.52}, {'connected_gene': 'PSMG4', 'score': 32.39}, {'connected_gene': 'PRPF4B', 'score': 25.57}, {'connected_gene': 'C6orf201', 'score': 11.34}, {'connected_gene': 'RIPK1', 'score': 11.2}, {'connected_gene': 'BPHL', 'score': 10.89}, {'connected_gene': 'LOC105374889', 'score': 0.77}, {'connected_gene': 'GC06P003150', 'score': 0.39}, {'connected_gene': 'GC06M003095', 'score': 0.31}]
chr6	GH06I003117	3117503	3121143	2.25	[{'connected_gene': 'BPHL', 'score': 556.08}, {'connected_gene': 'TUBB2A', 'score': 11.71}, {'connected_gene': 'ENSG00000228170', 'score': 11.58}, {'connected_gene': 'TUBB2B', 'score': 11.3}, {'connected_gene': 'PSMG4', 'score': 11.3}, {'connected_gene': 'TUBB2BP1', 'score': 6.14}, {'connected_gene': 'GC06P003115', 'score': 0.77}, {'connected_gene': 'GC06P003150', 'score': 0.29}, {'connected_gene': 'GC06M003095', 'score': 0.19}]
chr6	GH06I003142	3142187	3143393	0.63	[{'connected_gene': 'BPHL', 'score': 11.35}, {'connected_gene': 'TUBB2B', 'score': 10.79}, {'connected_gene': 'PSMG4', 'score': 10.79}, {'connected_gene': 'GC06P003150', 'score': 0.44}, {'connected_gene': 'ENSG00000228170', 'score': 0.39}, {'connected_gene': 'GC06M003095', 'score': 0.25}]
chr6	GH06I003254	3254039	3254408	0.64	[{'connected_gene': 'SLC22A23', 'score': 15.47}, {'connected_gene': 'ENSG00000228170', 'score': 11.32}, {'connected_gene': 'BPHL', 'score': 10.92}, {'connected_gene': 'PSMG4', 'score': 9.98}, {'connected_gene': 'PIR45758', 'score': 0.44}, {'connected_gene': 'TUBB2B', 'score': 0.34}]
chr6	GH06I003020	3020861	3021706	0.49	[{'connected_gene': 'HTATSF1P2', 'score': 15.2}, {'connected_gene': 'NQO2', 'score': 12.78}, {'connected_gene': 'BPHL', 'score': 10.33}, {'connected_gene': 'LOC105374888', 'score': 0.34}, {'connected_gene': 'GC06P002980', 'score': 0.26}]
chr6	GH06I003021	3021890	3027718	1.78	[{'connected_gene': 'HTATSF1P2', 'score': 631.33}, {'connected_gene': 'LOC101927759', 'score': 550.77}, {'connected_gene': 'NQO2', 'score': 39.78}, {'connected_gene': 'PRPF4B', 'score': 33.02}, {'connected_gene': 'RIPK1', 'score': 29.61}, {'connected_gene': 'LINC01011', 'score': 11.38}, {'connected_gene': 'BPHL', 'score': 10.76}, {'connected_gene': 'ENSG00000272277', 'score': 8.18}, {'connected_gene': 'GC06P002980', 'score': 0.26}]
chr6	GH06I003061	3061547	3061696	0.6	[{'connected_gene': 'LINC01011', 'score': 11.29}, {'connected_gene': 'NQO2', 'score': 11.29}, {'connected_gene': 'BPHL', 'score': 11.1}, {'connected_gene': 'RIPK1', 'score': 0.77}, {'connected_gene': 'PIR47178', 'score': 0.44}]
chr6	GH06I003125	3125275	3127000	1.37	[{'connected_gene': 'TUBB2B', 'score': 17.05}, {'connected_gene': 'TUBB2A', 'score': 11.73}, {'connected_gene': 'ENSG00000228170', 'score': 11.6}, {'connected_gene': 'PSMG4', 'score': 11.31}, {'connected_gene': 'BPHL', 'score': 0.44}, {'connected_gene': 'GC06P003150', 'score': 0.34}, {'connected_gene': 'GC06M003095', 'score': 0.21}]
chr6	GH06I003134	3134901	3136673	0.87	[{'connected_gene': 'TUBB2B', 'score': 10.77}, {'connected_gene': 'PSMG4', 'score': 10.77}, {'connected_gene': 'GC06P003150', 'score': 0.39}, {'connected_gene': 'BPHL', 'score': 0.37}, {'connected_gene': 'GC06M003095', 'score': 0.22}]
chr6	GH06I003137	3137475	3140281	1.38	[{'connected_gene': 'TUBB2B', 'score': 44.98}, {'connected_gene': 'TUBB2BP1', 'score': 15.07}, {'connected_gene': 'BPHL', 'score': 11.45}, {'connected_gene': 'PSMG4', 'score': 10.78}, {'connected_gene': 'ENSG00000228170', 'score': 0.39}, {'connected_gene': 'GC06P003150', 'score': 0.39}, {'connected_gene': 'GC06M003095', 'score': 0.23}]
chr6	GH06I003179	3179800	3180400	0.84	[{'connected_gene': 'TUBB2BP1', 'score': 550.77}, {'connected_gene': 'ENSG00000228170', 'score': 10.81}, {'connected_gene': 'TUBB2B', 'score': 10.6}, {'connected_gene': 'PSMG4', 'score': 10.6}, {'connected_gene': 'BPHL', 'score': 10.04}, {'connected_gene': 'GC06M003095', 'score': 0.39}, {'connected_gene': 'GC06P003150', 'score': 0.31}]
chr6	GH06I003067	3067528	3070337	1.77	[{'connected_gene': 'ENSG00000272277', 'score': 596.59}, {'connected_gene': 'PRPF4B', 'score': 17.69}, {'connected_gene': 'HTATSF1P2', 'score': 14.98}, {'connected_gene': 'PSMG4', 'score': 13.09}, {'connected_gene': 'BPHL', 'score': 12.72}, {'connected_gene': 'RIPK1', 'score': 0.77}, {'connected_gene': 'GC06P003076', 'score': 0.44}]
chr6	GH06I003249	3249692	3252052	1.17	[{'connected_gene': 'ENSG00000228170', 'score': 11.32}, {'connected_gene': 'BPHL', 'score': 10.92}, {'connected_gene': 'PSMG4', 'score': 9.52}, {'connected_gene': 'TUBB2BP1', 'score': 8.21}, {'connected_gene': 'PIR45758', 'score': 0.39}, {'connected_gene': 'TUBB2B', 'score': 0.37}]
chr6	GH06I003252	3252527	3252736	0.49	[{'connected_gene': 'ENSG00000228170', 'score': 11.32}, {'connected_gene': 'BPHL', 'score': 10.92}, {'connected_gene': 'PIR45758', 'score': 0.39}, {'connected_gene': 'TUBB2B', 'score': 0.34}, {'connected_gene': 'PSMG4', 'score': 0.34}]
chr6	GH06I003401	3401539	3412531	1.74	[{'connected_gene': 'GC06M003358', 'score': 550.77}, {'connected_gene': 'SLC22A23', 'score': 14.84}, {'connected_gene': 'BPHL', 'score': 2.37}, {'connected_gene': 'TUBB2B', 'score': 2.07}, {'connected_gene': 'LOC105374890', 'score': 0.77}]
chr6	GH06I003055	3055601	3056453	0.95	[{'connected_gene': 'ENSG00000229282', 'score': 550.77}, {'connected_gene': 'PIR47178', 'score': 550.77}, {'connected_gene': 'ENSG00000272277', 'score': 18.8}, {'connected_gene': 'LINC01011', 'score': 11.77}, {'connected_gene': 'NQO2', 'score': 11.77}, {'connected_gene': 'BPHL', 'score': 11.22}, {'connected_gene': 'RIPK1', 'score': 0.44}]
chr6	GH06I003269	3269706	3271135	0.49	[{'connected_gene': 'PIR47461', 'score': 550.77}, {'connected_gene': 'PSMG4', 'score': 17.29}, {'connected_gene': 'TUBB2B', 'score': 11.95}, {'connected_gene': 'BPHL', 'score': 10.89}, {'connected_gene': 'ENSG00000228170', 'score': 10.47}, {'connected_gene': 'GC06P003292', 'score': 0.34}, {'connected_gene': 'SLC22A23', 'score': 0.09}]
chr6	GH06I003151	3151396	3152585	0.43	[{'connected_gene': 'ENSG00000228170', 'score': 550.77}, {'connected_gene': 'GC06P003150', 'score': 550.77}, {'connected_gene': 'TUBB2B', 'score': 5.65}, {'connected_gene': 'BPHL', 'score': 0.29}, {'connected_gene': 'GC06M003095', 'score': 0.28}]
chr6	GH06I003207	3207510	3210671	1.49	[{'connected_gene': 'GC06P003208', 'score': 550.77}, {'connected_gene': 'TUBB2B', 'score': 17.54}, {'connected_gene': 'PSMG4', 'score': 16.57}, {'connected_gene': 'TUBB2A', 'score': 13.02}, {'connected_gene': 'BPHL', 'score': 11.98}, {'connected_gene': 'ENSG00000228170', 'score': 10.86}, {'connected_gene': 'SERPINB9', 'score': 3.95}, {'connected_gene': 'GC06P003221', 'score': 0.39}]