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
ENST00000315765	[[93754526, 93754704], [93778838, 93779083], [93796673, 93796886], [93797496, 93797676], [93800661, 93800916], [93803539, 93803708], [93806190, 93806330], [93806473, 93806605], [93808339, 93808551], [93815583, 93815734], [93819142, 93819355], [93821920, 93822134], [93826666, 93826806], [93834360, 93834501], [93836079, 93836186], [93837693, 93837916], [93839156, 93839296], [93844068, 93844231], [93844702, 93844771], [93844857, 93846917]]	[[93754534, 93754704], [93778838, 93779083], [93796673, 93796886], [93797496, 93797676], [93800661, 93800916], [93803539, 93803708], [93806190, 93806330], [93806473, 93806605], [93808339, 93808551], [93815583, 93815734], [93819142, 93819355], [93821920, 93822134], [93826666, 93826806], [93834360, 93834501], [93836079, 93836186], [93837693, 93837916], [93839156, 93839296], [93844068, 93844231], [93844702, 93844771], [93844857, 93845060]]
NM_001098672	[[93754377, 93754704], [93778838, 93779083], [93796673, 93796886], [93797496, 93797676], [93800661, 93800916], [93803539, 93803708], [93806190, 93806330], [93806473, 93806605], [93808339, 93808551], [93815583, 93815734], [93819142, 93819355], [93821920, 93822134], [93826666, 93826806], [93834360, 93834501], [93836079, 93836186], [93837693, 93837916], [93839156, 93839296], [93844068, 93844231], [93844702, 93844771], [93844857, 93847374]]	[[93754534, 93754704], [93778838, 93779083], [93796673, 93796886], [93797496, 93797676], [93800661, 93800916], [93803539, 93803708], [93806190, 93806330], [93806473, 93806605], [93808339, 93808551], [93815583, 93815734], [93819142, 93819355], [93821920, 93822134], [93826666, 93826806], [93834360, 93834501], [93836079, 93836186], [93837693, 93837916], [93839156, 93839296], [93844068, 93844231], [93844702, 93844771], [93844857, 93845060]]

Promoter

Chrom	Start	End	Description
chr11	93754316	93754353	CAGE_peak_2_at_HEPHL1_5end
chr11	93754513	93754538	CAGE_peak_1_at_HEPHL1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I093986	93986275	93987601	0.9	[{'connected_gene': 'CEP295', 'score': 22.58}, {'connected_gene': 'ENSG00000255445', 'score': 22.32}, {'connected_gene': 'HEPHL1', 'score': 11.06}, {'connected_gene': 'ENSG00000255995', 'score': 0.77}, {'connected_gene': 'GC11M093931', 'score': 0.37}]
chr11	GH11I094120	94119367	94121653	0.43	[{'connected_gene': 'HEPHL1', 'score': 17.58}, {'connected_gene': 'C11orf54', 'score': 4.25}, {'connected_gene': 'PIR40339', 'score': 0.77}, {'connected_gene': 'GC11P094117', 'score': 0.77}]
chr11	GH11I093938	93938470	93940833	0.52	[{'connected_gene': 'HEPHL1', 'score': 7.08}, {'connected_gene': 'PANX1', 'score': 5.99}, {'connected_gene': 'LOC105369435', 'score': 4.19}, {'connected_gene': 'PIR53523', 'score': 0.37}, {'connected_gene': 'GC11M093931', 'score': 0.31}]
chr11	GH11I094046	94046506	94047167	0.82	[{'connected_gene': 'HEPHL1', 'score': 12.28}, {'connected_gene': 'PANX1', 'score': 6.77}, {'connected_gene': 'PHBP16', 'score': 0.44}, {'connected_gene': 'GC11M094026', 'score': 0.37}]
chr11	GH11I094148	94148764	94154380	1.33	[{'connected_gene': 'HEPHL1', 'score': 13.71}, {'connected_gene': 'PANX1', 'score': 11.75}, {'connected_gene': 'PIR47114', 'score': 0.34}, {'connected_gene': 'GC11P094183', 'score': 0.29}]
chr11	GH11I093922	93922410	93923741	0.8	[{'connected_gene': 'HEPHL1', 'score': 15.94}, {'connected_gene': 'PANX1', 'score': 4.62}, {'connected_gene': 'PIR53523', 'score': 0.77}, {'connected_gene': 'GC11M093931', 'score': 0.26}]
chr11	GH11I093947	93947775	93948974	0.64	[{'connected_gene': 'HEPHL1', 'score': 11.2}, {'connected_gene': 'PANX1', 'score': 5.57}, {'connected_gene': 'GC11M093931', 'score': 0.37}, {'connected_gene': 'PIR53523', 'score': 0.31}]
chr11	GH11I094171	94171755	94172948	0.59	[{'connected_gene': 'HEPHL1', 'score': 13.32}, {'connected_gene': 'PANX1', 'score': 12.67}, {'connected_gene': 'GC11P094183', 'score': 0.39}, {'connected_gene': 'PIR47114', 'score': 0.26}]
chr11	GH11I094147	94147601	94147800	0.52	[{'connected_gene': 'HEPHL1', 'score': 13.7}, {'connected_gene': 'PIR47114', 'score': 0.37}, {'connected_gene': 'PANX1', 'score': 0.37}, {'connected_gene': 'GC11P094183', 'score': 0.28}]
chr11	GH11I094144	94144201	94144600	0.38	[{'connected_gene': 'HEPHL1', 'score': 13.91}, {'connected_gene': 'PIR47114', 'score': 0.39}, {'connected_gene': 'PANX1', 'score': 0.37}, {'connected_gene': 'GC11P094183', 'score': 0.28}]
chr11	GH11I094140	94140988	94142998	1.15	[{'connected_gene': 'HEPHL1', 'score': 13.28}, {'connected_gene': 'PIR47114', 'score': 0.39}, {'connected_gene': 'PANX1', 'score': 0.39}, {'connected_gene': 'GC11P094183', 'score': 0.26}]
chr11	GH11I094090	94090158	94092104	0.2	[{'connected_gene': 'HEPHL1', 'score': 16.79}, {'connected_gene': 'GC11P094117', 'score': 0.31}, {'connected_gene': 'PHBP16', 'score': 0.28}]
chr11	GH11I094020	94020022	94022931	1.3	[{'connected_gene': 'HEPHL1', 'score': 588.2}, {'connected_gene': 'GC11M094026', 'score': 0.44}, {'connected_gene': 'GC11P094003', 'score': 0.37}]
chr11	GH11I094007	94007475	94008977	0.2	[{'connected_gene': 'HEPHL1', 'score': 37.83}, {'connected_gene': 'GC11P094003', 'score': 0.44}, {'connected_gene': 'PIR57850', 'score': 0.44}]
chr11	GH11I094009	94009622	94012249	0.4	[{'connected_gene': 'HEPHL1', 'score': 37.83}, {'connected_gene': 'PIR57850', 'score': 0.77}, {'connected_gene': 'GC11P094003', 'score': 0.44}]
chr11	GH11I093972	93972813	93974757	0.91	[{'connected_gene': 'HEPHL1', 'score': 34.05}, {'connected_gene': 'GC11M093931', 'score': 0.44}, {'connected_gene': 'ENSG00000255995', 'score': 0.37}]
chr11	GH11I094016	94016944	94019663	0.51	[{'connected_gene': 'HEPHL1', 'score': 38.2}, {'connected_gene': 'PIR57850', 'score': 0.77}, {'connected_gene': 'GC11P094003', 'score': 0.37}]
chr11	GH11I094127	94127285	94137684	2.78	[{'connected_gene': 'PANX1', 'score': 574.06}, {'connected_gene': 'MED17', 'score': 43.25}, {'connected_gene': 'ANKRD49', 'score': 30.69}, {'connected_gene': 'MRE11', 'score': 26.25}, {'connected_gene': 'SNORA1', 'score': 23.78}, {'connected_gene': 'HEPHL1', 'score': 17.55}, {'connected_gene': 'FUT4', 'score': 2.13}, {'connected_gene': 'PIR47114', 'score': 0.77}, {'connected_gene': 'GC11P094183', 'score': 0.23}]
chr11	GH11I094174	94174966	94176135	0.2	[{'connected_gene': 'PANX1', 'score': 14.23}, {'connected_gene': 'LOC105369435', 'score': 12.4}, {'connected_gene': 'HEPHL1', 'score': 7.43}, {'connected_gene': 'GC11P094183', 'score': 0.44}, {'connected_gene': 'PIR47114', 'score': 0.25}]
chr11	GH11I094060	94060475	94060624	0.2	[{'connected_gene': 'PHBP16', 'score': 0.77}, {'connected_gene': 'HEPHL1', 'score': 0.28}, {'connected_gene': 'GC11P094117', 'score': 0.22}]
chr11	GH11I094027	94027495	94029852	0.51	[{'connected_gene': 'GC11M094026', 'score': 550.77}, {'connected_gene': 'HEPHL1', 'score': 21.53}, {'connected_gene': 'PANX1', 'score': 6.24}, {'connected_gene': 'GC11P094003', 'score': 0.31}, {'connected_gene': 'PHBP16', 'score': 0.31}]