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
ENST00000539993	[[69242956, 69243574], [69351733, 69351881], [69358563, 69358695], [69380926, 69381055], [69400257, 69400286], [69434033, 69434206], [69445217, 69445384], [69552610, 69552746], [69621228, 69621314], [69633595, 69633672], [69688633, 69688684], [69699677, 69699771], [69728120, 69728180], [69730473, 69730790]]	[[69243505, 69243574], [69351733, 69351881], [69358563, 69358695], [69380926, 69381055], [69400257, 69400286], [69434033, 69434206], [69445217, 69445384], [69552610, 69552746], [69621228, 69621314], [69633595, 69633672], [69688633, 69688684], [69699677, 69699771], [69728120, 69728180], [69730473, 69730481]]
ENST00000518698	[[69242956, 69243574], [69351733, 69351881], [69358563, 69358695], [69380926, 69381055], [69400257, 69400286], [69434033, 69434206], [69445217, 69445384], [69552610, 69552746], [69621228, 69621314], [69633595, 69633672], [69688633, 69688684], [69699677, 69699771], [69728120, 69728180], [69730473, 69730796]]	[[69243247, 69243574], [69351733, 69351881], [69358563, 69358695], [69380926, 69381055], [69400257, 69400286], [69434033, 69434206], [69445217, 69445384], [69552610, 69552746], [69621228, 69621314], [69633595, 69633672], [69688633, 69688684], [69699677, 69699771], [69728120, 69728180], [69730473, 69730481]]
ENST00000349492	[[69243376, 69243574], [69351733, 69351881], [69358563, 69358695], [69400257, 69400286], [69434033, 69434174]]	None
ENST00000523686	[[69243456, 69243574], [69351733, 69351881], [69358563, 69360245]]	[[69243505, 69243574], [69351733, 69351881], [69358563, 69358736]]
ENST00000348340	[[69243459, 69243574], [69351733, 69351881], [69358563, 69358695], [69380926, 69381055], [69400257, 69400286], [69434033, 69434206], [69445217, 69448062]]	[[69243505, 69243574], [69351733, 69351881], [69358563, 69358695], [69380926, 69381055], [69400257, 69400286], [69434033, 69434206], [69445217, 69445401]]
ENST00000337103	[[69350147, 69351881], [69358563, 69358695], [69380926, 69381055], [69400257, 69400286], [69434033, 69434206], [69445217, 69445384], [69552610, 69552746], [69621228, 69621314], [69633595, 69633672], [69688633, 69688684], [69699677, 69699771], [69728120, 69728180], [69730473, 69731257]]	[[69351739, 69351881], [69358563, 69358695], [69380926, 69381055], [69400257, 69400286], [69434033, 69434206], [69445217, 69445384], [69552610, 69552746], [69621228, 69621314], [69633595, 69633672], [69688633, 69688684], [69699677, 69699771], [69728120, 69728180], [69730473, 69730481]]
ENST00000521406	[[69351710, 69351881], [69358563, 69358695], [69380926, 69381055], [69400257, 69400286], [69434033, 69434206], [69442827, 69442914], [69445217, 69445384], [69552610, 69552746], [69621228, 69621314], [69633595, 69633672], [69688633, 69688684], [69699677, 69699771], [69728120, 69728180], [69730473, 69730509]]	[[69351739, 69351881], [69358563, 69358695], [69380926, 69381055], [69400257, 69400286], [69434033, 69434206], [69442827, 69442843]]
ENST00000518515	[[69445254, 69445384], [69621228, 69621314], [69633595, 69633672], [69699677, 69699848]]	None
ENST00000325233	[[69537693, 69537890], [69552610, 69552746], [69621228, 69621314], [69633595, 69633672], [69688633, 69688684], [69699677, 69699771], [69703049, 69703108], [69703225, 69704806]]	[[69537811, 69537890], [69552610, 69552746], [69621228, 69621314], [69633595, 69633672], [69688633, 69688684], [69699677, 69699771], [69703049, 69703108], [69703225, 69703249]]
NM_001195639	[[69242956, 69243574], [69351733, 69351881], [69358563, 69358695], [69380926, 69381055], [69400257, 69400286], [69434033, 69434206], [69445217, 69448062]]	[[69243247, 69243574], [69351733, 69351881], [69358563, 69358695], [69380926, 69381055], [69400257, 69400286], [69434033, 69434206], [69445217, 69445401]]
NM_052958	[[69242956, 69243574], [69351733, 69351881], [69358563, 69358695], [69380926, 69381055], [69400257, 69400286], [69434033, 69434206], [69445217, 69445384], [69552610, 69552746], [69621228, 69621314], [69633595, 69633672], [69688633, 69688684], [69699677, 69699771], [69728120, 69728180], [69730473, 69731258]]	[[69243247, 69243574], [69351733, 69351881], [69358563, 69358695], [69380926, 69381055], [69400257, 69400286], [69434033, 69434206], [69445217, 69445384], [69552610, 69552746], [69621228, 69621314], [69633595, 69633672], [69688633, 69688684], [69699677, 69699771], [69728120, 69728180], [69730473, 69730481]]

Promoter

Chrom	Start	End	Description
chr8	69242969	69242990	CAGE_peak_3_at_C8orf34_5end
chr8	69243002	69243020	CAGE_peak_2_at_C8orf34_5end
chr8	69243028	69243043	CAGE_peak_4_at_C8orf34_5end
chr8	69243165	69243213	CAGE_peak_1_at_C8orf34_5end
chr8	69243266	69243284	CAGE_peak_5_at_C8orf34_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I068583	68583585	68586977	0.56	[{'connected_gene': 'RPS15AP25', 'score': 0.22}, {'connected_gene': 'RNA5SP269', 'score': 0.14}, {'connected_gene': 'C8orf34', 'score': 0.07}]
chr8	GH08I068330	68330089	68331668	1.84	[{'connected_gene': 'C8orf34-AS1', 'score': 556.05}, {'connected_gene': 'C8orf34', 'score': 550.77}]
chr8	GH08I068229	68229066	68230818	0.51	[{'connected_gene': 'C8orf34', 'score': 10.46}, {'connected_gene': 'C8orf34-AS1', 'score': 10.46}, {'connected_gene': 'GC08P068234', 'score': 0.77}, {'connected_gene': 'ENSG00000252210', 'score': 0.44}, {'connected_gene': 'PREX2', 'score': 0.06}]
chr8	GH08I068182	68182119	68182310	0.48	[{'connected_gene': 'C8orf34', 'score': 10.31}, {'connected_gene': 'C8orf34-AS1', 'score': 10.31}, {'connected_gene': 'ENSG00000254051', 'score': 0.44}, {'connected_gene': 'ENSG00000252210', 'score': 0.26}, {'connected_gene': 'PREX2', 'score': 0.07}]
chr8	GH08I068258	68257126	68257275	0.38	[{'connected_gene': 'C8orf34', 'score': 10.94}, {'connected_gene': 'C8orf34-AS1', 'score': 10.94}, {'connected_gene': 'GC08P068234', 'score': 0.34}, {'connected_gene': 'RPL31P40', 'score': 0.28}]
chr8	GH08I068262	68262962	68263173	0.22	[{'connected_gene': 'C8orf34', 'score': 11.41}, {'connected_gene': 'C8orf34-AS1', 'score': 11.41}, {'connected_gene': 'GC08P068234', 'score': 0.31}, {'connected_gene': 'RPL31P40', 'score': 0.29}]
chr8	GH08I068256	68256800	68257035	0.51	[{'connected_gene': 'C8orf34', 'score': 10.94}, {'connected_gene': 'C8orf34-AS1', 'score': 10.94}, {'connected_gene': 'GC08P068234', 'score': 0.34}, {'connected_gene': 'RPL31P40', 'score': 0.28}]
chr8	GH08I068260	68260601	68261698	0.38	[{'connected_gene': 'C8orf34', 'score': 17.52}, {'connected_gene': 'C8orf34-AS1', 'score': 11.4}, {'connected_gene': 'GC08P068234', 'score': 0.31}, {'connected_gene': 'RPL31P40', 'score': 0.29}]
chr8	GH08I068257	68257601	68257801	0.54	[{'connected_gene': 'C8orf34', 'score': 10.94}, {'connected_gene': 'C8orf34-AS1', 'score': 10.94}, {'connected_gene': 'GC08P068234', 'score': 0.34}, {'connected_gene': 'RPL31P40', 'score': 0.28}]
chr8	GH08I068821	68821388	68821550	0.22	[{'connected_gene': 'C8orf34', 'score': 1.36}, {'connected_gene': 'ENSG00000254337', 'score': 0.29}, {'connected_gene': 'RNA5SP269', 'score': 0.13}]
chr8	GH08I068503	68503655	68503800	0.39	[{'connected_gene': 'C8orf34', 'score': 3.59}, {'connected_gene': 'RFPL4AP2', 'score': 0.77}, {'connected_gene': 'RPS15AP25', 'score': 0.34}]
chr8	GH08I068621	68621807	68622580	0.69	[{'connected_gene': 'RNA5SP269', 'score': 0.19}, {'connected_gene': 'RPS15AP25', 'score': 0.15}, {'connected_gene': 'C8orf34', 'score': 0.06}]
chr8	GH08I068640	68640021	68641749	0.31	[{'connected_gene': 'RNA5SP269', 'score': 0.23}, {'connected_gene': 'RPS15AP25', 'score': 0.14}, {'connected_gene': 'C8orf34', 'score': 0.06}]
chr8	GH08I068623	68623385	68624037	0.4	[{'connected_gene': 'RNA5SP269', 'score': 0.19}, {'connected_gene': 'RPS15AP25', 'score': 0.15}, {'connected_gene': 'C8orf34', 'score': 0.06}]
chr8	GH08I068624	68624305	68629623	0.4	[{'connected_gene': 'RNA5SP269', 'score': 0.2}, {'connected_gene': 'RPS15AP25', 'score': 0.15}, {'connected_gene': 'C8orf34', 'score': 0.06}]
chr8	GH08I068732	68732829	68735206	0.77	[{'connected_gene': 'RNA5SP269', 'score': 0.28}, {'connected_gene': 'ENSG00000254337', 'score': 0.13}, {'connected_gene': 'C8orf34', 'score': 0.05}]
chr8	GH08I068773	68773926	68774075	0.38	[{'connected_gene': 'RNA5SP269', 'score': 0.18}, {'connected_gene': 'ENSG00000254337', 'score': 0.18}, {'connected_gene': 'C8orf34', 'score': 0.04}]
chr8	GH08I068698	68698520	68700721	0.69	[{'connected_gene': 'RNA5SP269', 'score': 0.77}, {'connected_gene': 'ENSG00000254337', 'score': 0.1}, {'connected_gene': 'C8orf34', 'score': 0.05}]
chr8	GH08I068750	68750503	68752853	0.38	[{'connected_gene': 'RNA5SP269', 'score': 0.22}, {'connected_gene': 'ENSG00000254337', 'score': 0.15}, {'connected_gene': 'C8orf34', 'score': 0.05}]
chr8	GH08I068753	68753020	68754730	0.66	[{'connected_gene': 'RNA5SP269', 'score': 0.22}, {'connected_gene': 'ENSG00000254337', 'score': 0.15}, {'connected_gene': 'C8orf34', 'score': 0.05}]
chr8	GH08I068729	68729811	68730420	0.49	[{'connected_gene': 'RNA5SP269', 'score': 0.29}, {'connected_gene': 'ENSG00000254337', 'score': 0.13}, {'connected_gene': 'C8orf34', 'score': 0.05}]
chr8	GH08I068757	68757785	68762156	1.4	[{'connected_gene': 'RNA5SP269', 'score': 0.21}, {'connected_gene': 'ENSG00000254337', 'score': 0.16}, {'connected_gene': 'C8orf34', 'score': 0.04}]
chr8	GH08I068361	68361388	68361778	0.2	[{'connected_gene': 'GC08P068370', 'score': 0.44}, {'connected_gene': 'C8orf34', 'score': 0.29}, {'connected_gene': 'C8orf34-AS1', 'score': 0.29}]
chr8	GH08I068805	68805509	68805768	0.22	[{'connected_gene': 'ENSG00000254337', 'score': 0.25}, {'connected_gene': 'RNA5SP269', 'score': 0.14}, {'connected_gene': 'C8orf34', 'score': 0.04}]
chr8	GH08I068791	68791212	68792376	0.31	[{'connected_gene': 'ENSG00000254337', 'score': 0.21}, {'connected_gene': 'RNA5SP269', 'score': 0.15}, {'connected_gene': 'C8orf34', 'score': 0.04}]