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
ENST00000298875	[[92588280, 92588472], [92592465, 92592524], [92597294, 92597477], [92600354, 92600514], [92600593, 92600699], [92601710, 92601840], [92604575, 92604691], [92608507, 92608695], [92609347, 92609638], [92620701, 92620802], [92621466, 92621667], [92622822, 92622975], [92624002, 92624228], [92625326, 92625626], [92627455, 92627590], [92627995, 92630755]]	[[92597328, 92597477], [92600354, 92600514], [92600593, 92600699], [92601710, 92601840], [92604575, 92604691], [92608507, 92608695], [92609347, 92609638], [92620701, 92620802], [92621466, 92621667], [92622822, 92622975], [92624002, 92624228], [92625326, 92625626], [92627455, 92627590], [92627995, 92628088]]
ENST00000553427	[[92588315, 92588695], [92592465, 92592524], [92597294, 92597477], [92600354, 92600447]]	[[92597328, 92597477], [92600354, 92600447]]
ENST00000554290	[[92588328, 92588472], [92592465, 92592524], [92597294, 92597477], [92600593, 92600699], [92601710, 92601776]]	[[92597328, 92597477], [92600593, 92600633]]
ENST00000556622	[[92620364, 92620802], [92621466, 92621497]]	None
ENST00000555244	[[92621522, 92621667], [92624002, 92624228], [92625326, 92625626], [92627455, 92627590]]	[[92621522, 92621667], [92624002, 92624228], [92625326, 92625626], [92627455, 92627590]]
NM_001322271	[[92588297, 92588472], [92592465, 92592524], [92597294, 92597477], [92600593, 92600699], [92601710, 92601840], [92604575, 92604691], [92608507, 92608695], [92609347, 92609638], [92620701, 92620802], [92621466, 92621667], [92622822, 92622975], [92624002, 92624228], [92625326, 92625626], [92627455, 92627590], [92627995, 92630543]]	[[92601754, 92601840], [92604575, 92604691], [92608507, 92608695], [92609347, 92609638], [92620701, 92620802], [92621466, 92621667], [92622822, 92622975], [92624002, 92624228], [92625326, 92625626], [92627455, 92627590], [92627995, 92628088]]
NM_001322270	[[92588297, 92588472], [92592465, 92592524], [92597294, 92597477], [92600354, 92600514], [92600593, 92600699], [92601710, 92601840], [92604575, 92604691], [92608507, 92608695], [92609347, 92609638], [92620701, 92620802], [92621466, 92621667], [92624002, 92624228], [92625326, 92625626], [92627455, 92627590], [92627995, 92630543]]	[[92597328, 92597477], [92600354, 92600514], [92600593, 92600699], [92601710, 92601840], [92604575, 92604691], [92608507, 92608695], [92609347, 92609638], [92620701, 92620802], [92621466, 92621667], [92624002, 92624228], [92625326, 92625626], [92627455, 92627590], [92627995, 92628088]]
NM_017437	[[92588297, 92588472], [92592465, 92592524], [92597294, 92597477], [92600354, 92600514], [92600593, 92600699], [92601710, 92601840], [92604575, 92604691], [92608507, 92608695], [92609347, 92609638], [92620701, 92620802], [92621466, 92621667], [92622822, 92622975], [92624002, 92624228], [92625326, 92625626], [92627455, 92627590], [92627995, 92630543]]	[[92597328, 92597477], [92600354, 92600514], [92600593, 92600699], [92601710, 92601840], [92604575, 92604691], [92608507, 92608695], [92609347, 92609638], [92620701, 92620802], [92621466, 92621667], [92622822, 92622975], [92624002, 92624228], [92625326, 92625626], [92627455, 92627590], [92627995, 92628088]]
NM_001322272	[[92588315, 92588695], [92592465, 92592524], [92597294, 92597477], [92600354, 92600514], [92600593, 92600699], [92601710, 92601840], [92604575, 92604691], [92608507, 92608695], [92609347, 92609638], [92620701, 92620802], [92621466, 92621667], [92622822, 92622975], [92624002, 92624228], [92625326, 92625626], [92627455, 92627590], [92627995, 92630543]]	[[92597328, 92597477], [92600354, 92600514], [92600593, 92600699], [92601710, 92601840], [92604575, 92604691], [92608507, 92608695], [92609347, 92609638], [92620701, 92620802], [92621466, 92621667], [92622822, 92622975], [92624002, 92624228], [92625326, 92625626], [92627455, 92627590], [92627995, 92628088]]

Promoter

Chrom	Start	End	Description
chr14	92588298	92588336	CAGE_peak_1_at_CPSF2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I092038	92038192	92041517	2.05	[{'connected_gene': 'TRIP11', 'score': 568.95}, {'connected_gene': 'PIR36842', 'score': 550.77}, {'connected_gene': 'PPP4R3A', 'score': 38.03}, {'connected_gene': 'ATXN3', 'score': 30.7}, {'connected_gene': 'CPSF2', 'score': 18.9}, {'connected_gene': 'GOLGA5', 'score': 10.93}, {'connected_gene': 'TC2N', 'score': 10.43}, {'connected_gene': 'CATSPERB', 'score': 10.12}, {'connected_gene': 'NDUFB1', 'score': 5.07}, {'connected_gene': 'GC14P091891', 'score': 0.11}]
chr14	GH14I091927	91927213	91928886	0.2	[{'connected_gene': 'TRIP11', 'score': 14.37}, {'connected_gene': 'TC2N', 'score': 10.68}, {'connected_gene': 'NANOGP7', 'score': 5.22}, {'connected_gene': 'CPSF2', 'score': 4.85}, {'connected_gene': 'FBLN5', 'score': 0.37}, {'connected_gene': 'GC14M092130', 'score': 0.29}, {'connected_gene': 'GC14P091891', 'score': 0.28}]
chr14	GH14I092774	92774453	92776461	0.94	[{'connected_gene': 'LGMN', 'score': 12.76}, {'connected_gene': 'CPSF2', 'score': 5.05}, {'connected_gene': 'GOLGA5', 'score': 0.37}, {'connected_gene': 'GC14P092353', 'score': 0.05}]
chr14	GH14I092767	92767637	92771623	0.94	[{'connected_gene': 'LGMN', 'score': 12.79}, {'connected_gene': 'CPSF2', 'score': 5.03}, {'connected_gene': 'GOLGA5', 'score': 0.34}, {'connected_gene': 'GC14P092353', 'score': 0.05}]
chr14	GH14I091507	91507601	91511763	2.3	[{'connected_gene': 'PPP4R3A', 'score': 583.8}, {'connected_gene': 'TRIP11', 'score': 20.42}, {'connected_gene': 'ATXN3', 'score': 12.98}, {'connected_gene': 'CCDC88C', 'score': 11.81}, {'connected_gene': 'RPS18P2', 'score': 10.64}, {'connected_gene': 'CPSF2', 'score': 9.67}, {'connected_gene': 'TC2N', 'score': 9.46}, {'connected_gene': 'ENSG00000258446', 'score': 0.16}]
chr14	GH14I092153	92153737	92153886	0.49	[{'connected_gene': 'CPSF2', 'score': 10.69}, {'connected_gene': 'NDUFB1', 'score': 10.69}, {'connected_gene': 'TRIP11', 'score': 10.07}, {'connected_gene': 'GC14P092168', 'score': 0.39}]
chr14	GH14I092674	92674047	92674464	0.4	[{'connected_gene': 'CPSF2', 'score': 10.51}, {'connected_gene': 'NDUFB1', 'score': 10.51}, {'connected_gene': 'GC14P092700', 'score': 0.31}, {'connected_gene': 'PIR35810', 'score': 0.15}, {'connected_gene': 'RIN3', 'score': 0.1}, {'connected_gene': 'GC14P092353', 'score': 0.05}]
chr14	GH14I092672	92672220	92673212	0.2	[{'connected_gene': 'CPSF2', 'score': 10.51}, {'connected_gene': 'NDUFB1', 'score': 10.51}, {'connected_gene': 'GC14P092700', 'score': 0.31}, {'connected_gene': 'PIR35810', 'score': 0.15}, {'connected_gene': 'RIN3', 'score': 0.1}, {'connected_gene': 'GC14P092353', 'score': 0.06}]
chr14	GH14I092669	92669357	92671635	0.89	[{'connected_gene': 'CPSF2', 'score': 10.51}, {'connected_gene': 'NDUFB1', 'score': 10.51}, {'connected_gene': 'GC14P092700', 'score': 0.31}, {'connected_gene': 'PIR35810', 'score': 0.16}, {'connected_gene': 'RIN3', 'score': 0.1}, {'connected_gene': 'GC14P092353', 'score': 0.06}]
chr14	GH14I092675	92675251	92678129	1.25	[{'connected_gene': 'CPSF2', 'score': 10.51}, {'connected_gene': 'NDUFB1', 'score': 10.51}, {'connected_gene': 'GC14P092700', 'score': 0.34}, {'connected_gene': 'PIR35810', 'score': 0.15}, {'connected_gene': 'RIN3', 'score': 0.1}, {'connected_gene': 'GC14P092353', 'score': 0.05}]
chr14	GH14I092120	92120600	92123563	2.05	[{'connected_gene': 'CPSF2', 'score': 585.12}, {'connected_gene': 'NDUFB1', 'score': 575.98}, {'connected_gene': 'ATXN3', 'score': 19.51}, {'connected_gene': 'PPP4R3A', 'score': 17.38}, {'connected_gene': 'TRIP11', 'score': 15.57}, {'connected_gene': 'GC14P092168', 'score': 0.25}]
chr14	GH14I091941	91941355	91942703	0.38	[{'connected_gene': 'CPSF2', 'score': 5.52}, {'connected_gene': 'NDUFB1', 'score': 5.43}, {'connected_gene': 'FBLN5', 'score': 0.44}, {'connected_gene': 'GC14M092130', 'score': 0.25}, {'connected_gene': 'GC14P091891', 'score': 0.23}]
chr14	GH14I092160	92160277	92161466	0.43	[{'connected_gene': 'NDUFB1', 'score': 25.49}, {'connected_gene': 'CPSF2', 'score': 16.4}, {'connected_gene': 'ATXN3', 'score': 11.13}, {'connected_gene': 'GC14P092168', 'score': 0.44}]
chr14	GH14I092792	92792599	92795776	2.07	[{'connected_gene': 'GOLGA5', 'score': 566.15}, {'connected_gene': 'ATXN3', 'score': 20.23}, {'connected_gene': 'CPSF2', 'score': 14.29}, {'connected_gene': 'BTBD7', 'score': 12.42}, {'connected_gene': 'TRIP11', 'score': 10.33}, {'connected_gene': 'LGMN', 'score': 0.25}, {'connected_gene': 'GC14P092353', 'score': 0.04}]
chr14	GH14I092105	92105075	92107306	2.34	[{'connected_gene': 'ATXN3', 'score': 576.77}, {'connected_gene': 'PPP4R3A', 'score': 31.93}, {'connected_gene': 'CPSF2', 'score': 11.13}, {'connected_gene': 'NDUFB1', 'score': 10.46}, {'connected_gene': 'TRIP11', 'score': 10.19}, {'connected_gene': 'RIN3', 'score': 6.19}, {'connected_gene': 'SLC24A4', 'score': 6.01}, {'connected_gene': 'CATSPERB', 'score': 1.24}]
chr14	GH14I092784	92784940	92786813	1.16	[{'connected_gene': 'TMEM251', 'score': 9.55}, {'connected_gene': 'GOLGA5', 'score': 5.47}, {'connected_gene': 'CPSF2', 'score': 5.04}, {'connected_gene': 'SLC24A4', 'score': 3.16}, {'connected_gene': 'MOAP1', 'score': 1.72}, {'connected_gene': 'RIN3', 'score': 1.58}, {'connected_gene': 'GON7', 'score': 1.17}, {'connected_gene': 'LGMN', 'score': 0.28}, {'connected_gene': 'GC14P092353', 'score': 0.04}]
chr14	GH14I091929	91929621	91933267	0.31	[{'connected_gene': 'TC2N', 'score': 16.54}, {'connected_gene': 'TRIP11', 'score': 14.53}, {'connected_gene': 'NDUFB1', 'score': 4.65}, {'connected_gene': 'CPSF2', 'score': 4.38}, {'connected_gene': 'FBLN5', 'score': 0.37}, {'connected_gene': 'GC14P091891', 'score': 0.28}, {'connected_gene': 'GC14M092130', 'score': 0.28}]
chr14	GH14I092818	92818906	92821574	0.2	[{'connected_gene': 'CHGA', 'score': 10.6}, {'connected_gene': 'CPSF2', 'score': 5.14}, {'connected_gene': 'GOLGA5', 'score': 5.13}, {'connected_gene': 'GC14P092879', 'score': 0.22}, {'connected_gene': 'GC14P092880', 'score': 0.22}, {'connected_gene': 'GC14P092878', 'score': 0.22}, {'connected_gene': 'PIR36925', 'score': 0.22}, {'connected_gene': 'GC14P092353', 'score': 0.04}]
chr14	GH14I091984	91984597	91985600	0.87	[{'connected_gene': 'FBLN5', 'score': 10.65}, {'connected_gene': 'TRIP11', 'score': 10.12}, {'connected_gene': 'TC2N', 'score': 9.89}, {'connected_gene': 'CPSF2', 'score': 9.49}, {'connected_gene': 'NDUFB1', 'score': 9.49}, {'connected_gene': 'SLC24A4', 'score': 5.14}, {'connected_gene': 'PPP4R3A', 'score': 2.27}, {'connected_gene': 'ATXN3', 'score': 2.23}, {'connected_gene': 'PTMAP7', 'score': 0.26}, {'connected_gene': 'GC14P091891', 'score': 0.16}]
chr14	GH14I091910	91910640	91911065	0.2	[{'connected_gene': 'FBLN5', 'score': 11.49}, {'connected_gene': 'TC2N', 'score': 11.32}, {'connected_gene': 'TRIP11', 'score': 10.01}, {'connected_gene': 'CPSF2', 'score': 5.32}, {'connected_gene': 'GC14P091891', 'score': 0.37}, {'connected_gene': 'GC14M092130', 'score': 0.37}]
chr14	GH14I092161	92161657	92161806	0.2	[{'connected_gene': 'GC14P092168', 'score': 0.44}, {'connected_gene': 'CPSF2', 'score': 0.28}]
chr14	GH14I092154	92154717	92154866	0.74	[{'connected_gene': 'GC14P092168', 'score': 0.39}, {'connected_gene': 'CPSF2', 'score': 0.29}]
chr14	GH14I091889	91889033	91894126	1.09	[{'connected_gene': 'GC14P091891', 'score': 550.77}, {'connected_gene': 'FBLN5', 'score': 10.42}, {'connected_gene': 'TC2N', 'score': 7.69}, {'connected_gene': 'CATSPERB', 'score': 6.72}, {'connected_gene': 'TRIP11', 'score': 5.35}, {'connected_gene': 'ATXN3', 'score': 4.66}, {'connected_gene': 'CPSF2', 'score': 4.43}, {'connected_gene': 'GC14M092130', 'score': 0.77}]