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
ENST00000395686	[[53106633, 53110348], [53112871, 53113005], [53113092, 53113179], [53118956, 53119026], [53119786, 53120033], [53124634, 53124727], [53124841, 53124868], [53128010, 53128022], [53130518, 53130565], [53133092, 53133213], [53138347, 53138421], [53138512, 53138589], [53145151, 53145190], [53149042, 53149126], [53150505, 53150625], [53162085, 53162423]]	[[53110287, 53110348], [53112871, 53113005], [53113092, 53113179], [53118956, 53119026], [53119786, 53120033], [53124634, 53124727], [53124841, 53124868], [53128010, 53128022], [53130518, 53130565], [53133092, 53133213], [53138347, 53138421], [53138512, 53138589], [53145151, 53145190], [53149042, 53149126], [53150505, 53150625], [53162085, 53162199]]
ENST00000553714	[[53109933, 53110348], [53112871, 53113128]]	None
ENST00000554019	[[53110005, 53110348], [53112871, 53113005], [53113092, 53113179], [53118956, 53119026], [53119786, 53120033], [53124634, 53124744], [53130498, 53130565], [53133092, 53133213], [53138347, 53138421], [53138512, 53138589], [53145151, 53145190], [53149042, 53149126], [53150505, 53150625], [53162085, 53162606]]	[[53124666, 53124744], [53130498, 53130565], [53133092, 53133213], [53138347, 53138421], [53138512, 53138589], [53145151, 53145190], [53149042, 53149126], [53150505, 53150625], [53162085, 53162199]]
ENST00000556039	[[53110122, 53110348], [53113092, 53113179], [53118956, 53119026], [53119786, 53120033], [53124634, 53124744], [53130498, 53130565], [53133092, 53133213], [53138347, 53138421], [53138512, 53138589], [53145151, 53145190], [53149042, 53149126], [53150505, 53150625], [53162085, 53162618]]	[[53124666, 53124744], [53130498, 53130565], [53133092, 53133213], [53138347, 53138421], [53138512, 53138589], [53145151, 53145190], [53149042, 53149126], [53150505, 53150625], [53162085, 53162199]]
ENST00000555069	[[53112909, 53113005], [53113092, 53113842]]	None
ENST00000556358	[[53112969, 53113005], [53113092, 53113179], [53118956, 53119026], [53119786, 53120033], [53124634, 53124727], [53124841, 53125259]]	[[53112969, 53113005], [53113092, 53113179], [53118956, 53119026], [53119786, 53119818]]
ENST00000556769	[[53113096, 53113179], [53118956, 53119026], [53119786, 53120033], [53124634, 53124727], [53124841, 53124868], [53128010, 53128022], [53130518, 53130920]]	None
ENST00000554251	[[53133094, 53133213], [53138347, 53138421], [53138512, 53138589], [53145151, 53145190], [53149042, 53149126], [53162085, 53162247]]	[[53133094, 53133213], [53138347, 53138421], [53138512, 53138589], [53145151, 53145190], [53149042, 53149126], [53162085, 53162199]]
ENST00000557178	[[53138291, 53138421], [53138512, 53138953]]	None
ENST00000556223	[[53138542, 53138589], [53145036, 53145190], [53149042, 53149126], [53150505, 53150625], [53162085, 53162247]]	[[53145130, 53145190], [53149042, 53149126], [53150505, 53150625], [53162085, 53162199]]
NM_014584	[[53106632, 53110348], [53112871, 53113005], [53113092, 53113179], [53118956, 53119026], [53119786, 53120033], [53124634, 53124727], [53124841, 53124868], [53128010, 53128022], [53130518, 53130565], [53133092, 53133213], [53138347, 53138421], [53138512, 53138589], [53145151, 53145190], [53149042, 53149126], [53150505, 53150625], [53162085, 53162649]]	[[53110287, 53110348], [53112871, 53113005], [53113092, 53113179], [53118956, 53119026], [53119786, 53120033], [53124634, 53124727], [53124841, 53124868], [53128010, 53128022], [53130518, 53130565], [53133092, 53133213], [53138347, 53138421], [53138512, 53138589], [53145151, 53145190], [53149042, 53149126], [53150505, 53150625], [53162085, 53162199]]

Promoter

Chrom	Start	End	Description
chr14	53138551	53138585	CAGE_peak_8_at_ERO1L_5end
chr14	53162215	53162261	CAGE_peak_3_at_ERO1L_5end
chr14	53162264	53162282	CAGE_peak_4_at_ERO1L_5end
chr14	53162285	53162297	CAGE_peak_5_at_ERO1L_5end
chr14	53162333	53162354	CAGE_peak_6_at_ERO1L_5end
chr14	53162361	53162513	CAGE_peak_1_at_ERO1L_5end
chr14	53162600	53162680	CAGE_peak_2_at_ERO1L_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I052702	52702843	52704176	0.79	[{'connected_gene': 'STYX', 'score': 25.07}, {'connected_gene': 'PSMC6', 'score': 0.77}, {'connected_gene': 'ERO1A', 'score': 0.44}]
chr14	GH14I052740	52740645	52743999	0.69	[{'connected_gene': 'STYX', 'score': 24.42}, {'connected_gene': 'PSMC6', 'score': 11.34}, {'connected_gene': 'ERO1A', 'score': 10.99}, {'connected_gene': 'ENSG00000259049', 'score': 0.29}]
chr14	GH14I052699	52699544	52702179	0.98	[{'connected_gene': 'STYX', 'score': 29.47}, {'connected_gene': 'ERO1A', 'score': 5.93}, {'connected_gene': 'PSMC6', 'score': 0.44}]
chr14	GH14I052455	52455031	52456710	0.31	[{'connected_gene': 'TXNDC16', 'score': 11.54}, {'connected_gene': 'PTGER2', 'score': 10.88}, {'connected_gene': 'ERO1A', 'score': 5.71}, {'connected_gene': 'GC14M052143', 'score': 0.44}]
chr14	GH14I052457	52457285	52459366	1.16	[{'connected_gene': 'TXNDC16', 'score': 11.54}, {'connected_gene': 'PTGER2', 'score': 11.03}, {'connected_gene': 'ERO1A', 'score': 5.81}, {'connected_gene': 'GC14M052143', 'score': 0.44}]
chr14	GH14I052551	52551039	52554498	2.31	[{'connected_gene': 'TXNDC16', 'score': 565.8}, {'connected_gene': 'GPR137C', 'score': 556.97}, {'connected_gene': 'GC14P052555', 'score': 550.77}, {'connected_gene': 'GC14P052554', 'score': 550.77}, {'connected_gene': 'RTRAF', 'score': 11.62}, {'connected_gene': 'ERO1A', 'score': 7.22}, {'connected_gene': 'PTGDR', 'score': 1.99}]
chr14	GH14I052693	52693623	52699109	1.92	[{'connected_gene': 'ERO1A', 'score': 576.63}, {'connected_gene': 'STYX', 'score': 16.54}, {'connected_gene': 'PSMC6', 'score': 0.39}]
chr14	GH14I052912	52912744	52913996	0.43	[{'connected_gene': 'ERO1A', 'score': 9.89}, {'connected_gene': 'STYX', 'score': 5.94}, {'connected_gene': 'RTRAF', 'score': 4.57}, {'connected_gene': 'FERMT2', 'score': 0.28}, {'connected_gene': 'GC14P052872', 'score': 0.26}, {'connected_gene': 'LOC105370500', 'score': 0.13}]
chr14	GH14I052917	52917225	52920952	1.44	[{'connected_gene': 'ERO1A', 'score': 9.89}, {'connected_gene': 'STYX', 'score': 5.64}, {'connected_gene': 'LOC101927620', 'score': 4.4}, {'connected_gene': 'DDHD1', 'score': 3.68}, {'connected_gene': 'FERMT2', 'score': 0.29}, {'connected_gene': 'GC14P052872', 'score': 0.25}, {'connected_gene': 'LOC105370500', 'score': 0.13}]
chr14	GH14I052909	52909995	52911470	0.2	[{'connected_gene': 'ERO1A', 'score': 9.89}, {'connected_gene': 'RTRAF', 'score': 4.39}, {'connected_gene': 'GC14P052872', 'score': 0.28}, {'connected_gene': 'FERMT2', 'score': 0.26}, {'connected_gene': 'LOC105370500', 'score': 0.13}]
chr14	GH14I052106	52106107	52107653	0.4	[{'connected_gene': 'ERO1A', 'score': 5.11}, {'connected_gene': 'GC14P052112', 'score': 0.44}, {'connected_gene': 'LOC105378180', 'score': 0.28}]
chr14	GH14I052692	52692201	52693000	0.89	[{'connected_gene': 'ERO1A', 'score': 7.43}, {'connected_gene': 'ENSG00000258757', 'score': 0.23}]
chr14	GH14I052846	52846545	52847784	0.38	[{'connected_gene': 'FERMT2', 'score': 4.58}, {'connected_gene': 'ERO1A', 'score': 4.33}, {'connected_gene': 'GC14P052872', 'score': 0.34}, {'connected_gene': 'ENSG00000258698', 'score': 0.31}, {'connected_gene': 'LOC105370500', 'score': 0.22}]
chr14	GH14I053126	53126334	53127889	0.58	[{'connected_gene': 'LOC101927620', 'score': 31.06}, {'connected_gene': 'DDHD1', 'score': 18.34}, {'connected_gene': 'ERO1A', 'score': 10.18}, {'connected_gene': 'GC14M053037', 'score': 0.17}]