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
ENST00000334420	[[24521205, 24521402], [24522917, 24523012], [24523296, 24523347], [24523450, 24523510], [24523604, 24523720], [24523919, 24524017], [24524274, 24524345], [24524445, 24524519], [24524751, 24524827], [24524909, 24524998], [24525507, 24525602], [24525830, 24525917], [24526123, 24526233], [24526375, 24526453], [24527011, 24527088], [24527168, 24527273], [24527363, 24527433], [24527888, 24527970], [24528098, 24528195], [24528343, 24528398], [24528478, 24528651], [24528872, 24528941], [24529178, 24529272], [24529365, 24529464], [24529836, 24529965], [24530135, 24530249], [24530705, 24530881], [24531688, 24531776], [24531917, 24532055], [24532328, 24532392], [24532533, 24532742], [24533454, 24533555], [24534166, 24534482], [24535606, 24535673], [24535775, 24535865], [24537792, 24537911], [24537994, 24538175], [24538345, 24538456], [24538587, 24538916]]	[[24532334, 24532392], [24532533, 24532742], [24533454, 24533555], [24534166, 24534482], [24535606, 24535673], [24535775, 24535865], [24537792, 24537911], [24537994, 24538175], [24538345, 24538456], [24538587, 24538613]]
ENST00000342740	[[24521208, 24521402], [24522917, 24523012], [24523296, 24523347], [24523450, 24523510], [24523604, 24523720], [24523919, 24524017], [24524274, 24524345], [24524445, 24524519], [24524751, 24524827], [24524909, 24524998], [24525507, 24525602], [24525830, 24525917], [24526123, 24526233], [24526375, 24526453], [24527011, 24527088], [24527168, 24527273], [24527363, 24527433], [24527888, 24527970], [24528098, 24528195], [24528343, 24528398], [24528478, 24528651], [24528872, 24528941], [24529178, 24529272], [24529365, 24529464], [24529836, 24529965], [24530135, 24530249], [24530705, 24530881], [24531688, 24531776], [24531917, 24532055], [24532328, 24532392], [24532533, 24532742], [24533454, 24533555], [24534166, 24534482], [24534830, 24534959], [24535606, 24535673], [24535775, 24535865], [24537792, 24537911], [24537994, 24538175], [24538345, 24538456], [24538587, 24538937]]	[[24521362, 24521402], [24522917, 24523012], [24523296, 24523347], [24523450, 24523510], [24523604, 24523720], [24523919, 24524017], [24524274, 24524345], [24524445, 24524519], [24524751, 24524827], [24524909, 24524998], [24525507, 24525602], [24525830, 24525917], [24526123, 24526233], [24526375, 24526453], [24527011, 24527088], [24527168, 24527273], [24527363, 24527433], [24527888, 24527970], [24528098, 24528195], [24528343, 24528398], [24528478, 24528651], [24528872, 24528941], [24529178, 24529272], [24529365, 24529464], [24529836, 24529965], [24530135, 24530249], [24530705, 24530881], [24531688, 24531776], [24531917, 24532055], [24532328, 24532392], [24532533, 24532742], [24533454, 24533555], [24534166, 24534482], [24534830, 24534959], [24535606, 24535673], [24535775, 24535865], [24537792, 24537911], [24537994, 24538175], [24538345, 24538456], [24538587, 24538613]]
ENST00000559694	[[24526423, 24526453], [24527011, 24527088], [24527154, 24527273], [24527363, 24527433], [24527888, 24527970], [24528098, 24528195], [24528343, 24528398], [24528478, 24528651], [24528872, 24528941], [24529178, 24529272], [24529365, 24529464], [24529836, 24530881], [24531688, 24531776], [24531917, 24532055], [24532328, 24532392], [24532533, 24532742], [24533454, 24533555], [24534166, 24534959], [24535606, 24535673], [24535775, 24535865], [24537792, 24537911], [24537994, 24538175], [24538345, 24538456], [24538587, 24538935]]	None
ENST00000561354	[[24529949, 24529965], [24530135, 24530249], [24530705, 24531139]]	None
ENST00000560349	[[24531127, 24531776], [24531917, 24532392], [24532533, 24532742], [24533454, 24533555], [24534166, 24534482], [24535606, 24535673], [24535775, 24535865], [24537792, 24537911], [24537994, 24538175], [24538345, 24538456], [24538587, 24538933]]	None
NM_138360	[[24521205, 24521402], [24522917, 24523012], [24523296, 24523347], [24523450, 24523510], [24523604, 24523720], [24523919, 24524017], [24524274, 24524345], [24524445, 24524519], [24524751, 24524827], [24524909, 24524998], [24525507, 24525602], [24525830, 24525917], [24526123, 24526233], [24526375, 24526453], [24527011, 24527088], [24527168, 24527273], [24527363, 24527433], [24527888, 24527970], [24528098, 24528195], [24528343, 24528398], [24528478, 24528651], [24528872, 24528941], [24529178, 24529272], [24529365, 24529464], [24529836, 24529965], [24530135, 24530249], [24530705, 24530881], [24531688, 24531776], [24531917, 24532055], [24532328, 24532392], [24532533, 24532742], [24533454, 24533555], [24534166, 24534482], [24534830, 24534959], [24535606, 24535673], [24535775, 24535865], [24537792, 24537911], [24537994, 24538175], [24538345, 24538456], [24538587, 24538937]]	[[24521362, 24521402], [24522917, 24523012], [24523296, 24523347], [24523450, 24523510], [24523604, 24523720], [24523919, 24524017], [24524274, 24524345], [24524445, 24524519], [24524751, 24524827], [24524909, 24524998], [24525507, 24525602], [24525830, 24525917], [24526123, 24526233], [24526375, 24526453], [24527011, 24527088], [24527168, 24527273], [24527363, 24527433], [24527888, 24527970], [24528098, 24528195], [24528343, 24528398], [24528478, 24528651], [24528872, 24528941], [24529178, 24529272], [24529365, 24529464], [24529836, 24529965], [24530135, 24530249], [24530705, 24530881], [24531688, 24531776], [24531917, 24532055], [24532328, 24532392], [24532533, 24532742], [24533454, 24533555], [24534166, 24534482], [24534830, 24534959], [24535606, 24535673], [24535775, 24535865], [24537792, 24537911], [24537994, 24538175], [24538345, 24538456], [24538587, 24538613]]

Promoter

Chrom	Start	End	Description
chr14	24521202	24521267	CAGE_peak_1_at_LRRC16B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I024106	24106201	24106400	0.69	[{'connected_gene': 'CPNE6', 'score': 12.12}, {'connected_gene': 'CARMIL3', 'score': 11.98}, {'connected_gene': 'FITM1', 'score': 11.34}, {'connected_gene': 'PSME1', 'score': 11.31}, {'connected_gene': 'IRF9', 'score': 11.21}, {'connected_gene': 'EMC9', 'score': 10.96}, {'connected_gene': 'PSME2', 'score': 10.81}, {'connected_gene': 'RNF31', 'score': 10.81}, {'connected_gene': 'TM9SF1', 'score': 10.34}, {'connected_gene': 'ENSG00000254692', 'score': 9.96}, {'connected_gene': 'CHMP4A', 'score': 9.96}, {'connected_gene': 'NRL', 'score': 0.44}, {'connected_gene': 'DCAF11', 'score': 0.44}, {'connected_gene': 'PCK2', 'score': 0.39}]
chr14	GH14I024013	24013801	24014400	1.11	[{'connected_gene': 'CARMIL3', 'score': 12.69}, {'connected_gene': 'REC8', 'score': 10.1}, {'connected_gene': 'DHRS4L1', 'score': 0.44}, {'connected_gene': 'PIR58946', 'score': 0.34}]
chr14	GH14I024051	24051422	24052681	1.94	[{'connected_gene': 'CARMIL3', 'score': 556.06}, {'connected_gene': 'DHRS4L1', 'score': 5.13}, {'connected_gene': 'LOC105370412', 'score': 0.37}]
chr14	GH14I024049	24049201	24049600	0.43	[{'connected_gene': 'CARMIL3', 'score': 0.77}, {'connected_gene': 'PIR58946', 'score': 0.39}, {'connected_gene': 'DHRS4L1', 'score': 0.26}]
chr14	GH14I024080	24080532	24082348	1.44	[{'connected_gene': 'CARMIL3', 'score': 12.89}, {'connected_gene': 'PSME2', 'score': 10.67}, {'connected_gene': 'RNF31', 'score': 10.67}, {'connected_gene': 'IPO4', 'score': 10.35}, {'connected_gene': 'TM9SF1', 'score': 10.34}, {'connected_gene': 'REC8', 'score': 9.96}, {'connected_gene': 'EMC9', 'score': 9.21}, {'connected_gene': 'PCK2', 'score': 0.39}, {'connected_gene': 'CPNE6', 'score': 0.39}, {'connected_gene': 'NRL', 'score': 0.29}]
chr14	GH14I024079	24079812	24079961	0.59	[{'connected_gene': 'CARMIL3', 'score': 11.97}, {'connected_gene': 'EMC9', 'score': 9.13}, {'connected_gene': 'CPNE6', 'score': 0.44}, {'connected_gene': 'PCK2', 'score': 0.39}, {'connected_gene': 'NRL', 'score': 0.28}]
chr14	GH14I024053	24053332	24053421	0.49	[{'connected_gene': 'CARMIL3', 'score': 550.77}, {'connected_gene': 'LOC105370412', 'score': 0.39}]
chr14	GH14I024060	24060632	24062557	0.69	[{'connected_gene': 'PCK2', 'score': 11.66}, {'connected_gene': 'NRL', 'score': 11.6}, {'connected_gene': 'CARMIL3', 'score': 0.44}, {'connected_gene': 'LOC105370412', 'score': 0.44}]
chr14	GH14I024058	24058392	24058541	0.88	[{'connected_gene': 'PCK2', 'score': 21.65}, {'connected_gene': 'NRL', 'score': 11.69}, {'connected_gene': 'PSME2', 'score': 10.33}, {'connected_gene': 'RNF31', 'score': 10.33}, {'connected_gene': 'CARMIL3', 'score': 0.44}, {'connected_gene': 'LOC105370412', 'score': 0.44}]
chr14	GH14I024091	24090400	24096893	2.51	[{'connected_gene': 'PCK2', 'score': 550.77}, {'connected_gene': 'RNA5SP383', 'score': 31.84}, {'connected_gene': 'NGDN', 'score': 31.53}, {'connected_gene': 'ACIN1', 'score': 27.27}, {'connected_gene': 'NYNRIN', 'score': 22.27}, {'connected_gene': 'NFATC4', 'score': 21.86}, {'connected_gene': 'KHNYN', 'score': 21.33}, {'connected_gene': 'IPO4', 'score': 20.52}, {'connected_gene': 'SLC7A8', 'score': 14.08}, {'connected_gene': 'TINF2', 'score': 12.92}, {'connected_gene': 'CARMIL3', 'score': 11.9}, {'connected_gene': 'C14orf119', 'score': 11.57}, {'connected_gene': 'NRL', 'score': 11.43}, {'connected_gene': 'DCAF11', 'score': 11.43}, {'connected_gene': 'SDR39U1', 'score': 11.24}, {'connected_gene': 'ENSG00000259321', 'score': 10.98}, {'connected_gene': 'TM9SF1', 'score': 10.67}, {'connected_gene': 'IRF9', 'score': 10.38}, {'connected_gene': 'RNF31', 'score': 10.16}, {'connected_gene': 'EMC9', 'score': 10.11}, {'connected_gene': 'LOC102724814', 'score': 10.05}, {'connected_gene': 'EFS', 'score': 9.91}, {'connected_gene': 'TSSK4', 'score': 9.89}, {'connected_gene': 'NOP9', 'score': 9.77}, {'connected_gene': 'DHRS4', 'score': 5.72}, {'connected_gene': 'CPNE6', 'score': 0.34}]
chr14	GH14I024108	24108116	24109600	1.19	[{'connected_gene': 'EMC9', 'score': 17.68}, {'connected_gene': 'CPNE6', 'score': 12.12}, {'connected_gene': 'CARMIL3', 'score': 11.97}, {'connected_gene': 'FITM1', 'score': 11.34}, {'connected_gene': 'PSME1', 'score': 11.31}, {'connected_gene': 'IRF9', 'score': 11.21}, {'connected_gene': 'PSME2', 'score': 10.83}, {'connected_gene': 'RNF31', 'score': 10.83}, {'connected_gene': 'TM9SF1', 'score': 10.34}, {'connected_gene': 'ENSG00000254692', 'score': 9.96}, {'connected_gene': 'CHMP4A', 'score': 9.96}, {'connected_gene': 'NRL', 'score': 0.44}, {'connected_gene': 'DCAF11', 'score': 0.44}, {'connected_gene': 'PCK2', 'score': 0.39}]
chr14	GH14I024086	24086636	24086835	0.35	[{'connected_gene': 'NRL', 'score': 23.64}, {'connected_gene': 'CARMIL3', 'score': 12.73}, {'connected_gene': 'DCAF11', 'score': 11.4}, {'connected_gene': 'IRF9', 'score': 10.36}, {'connected_gene': 'IPO4', 'score': 10.02}, {'connected_gene': 'TM9SF1', 'score': 10.02}, {'connected_gene': 'TSSK4', 'score': 9.88}, {'connected_gene': 'PCK2', 'score': 0.44}, {'connected_gene': 'CPNE6', 'score': 0.37}]
chr14	GH14I024084	24084624	24084683	0.5	[{'connected_gene': 'NRL', 'score': 550.29}, {'connected_gene': 'CARMIL3', 'score': 11.73}, {'connected_gene': 'PSME2', 'score': 10.67}, {'connected_gene': 'RNF31', 'score': 10.67}, {'connected_gene': 'IPO4', 'score': 10.0}, {'connected_gene': 'TM9SF1', 'score': 9.99}, {'connected_gene': 'REC8', 'score': 9.71}, {'connected_gene': 'PCK2', 'score': 0.44}, {'connected_gene': 'CPNE6', 'score': 0.39}]
chr14	GH14I024083	24083616	24083675	0.79	[{'connected_gene': 'NRL', 'score': 550.29}, {'connected_gene': 'CARMIL3', 'score': 11.73}, {'connected_gene': 'PSME2', 'score': 10.67}, {'connected_gene': 'RNF31', 'score': 10.67}, {'connected_gene': 'IPO4', 'score': 10.0}, {'connected_gene': 'TM9SF1', 'score': 9.99}, {'connected_gene': 'REC8', 'score': 9.71}, {'connected_gene': 'PCK2', 'score': 0.39}, {'connected_gene': 'CPNE6', 'score': 0.39}]
chr14	GH14I024090	24090212	24090361	0.66	[{'connected_gene': 'NRL', 'score': 11.43}, {'connected_gene': 'DCAF11', 'score': 11.43}, {'connected_gene': 'CARMIL3', 'score': 11.34}, {'connected_gene': 'IRF9', 'score': 10.36}, {'connected_gene': 'IPO4', 'score': 10.03}, {'connected_gene': 'TM9SF1', 'score': 10.02}, {'connected_gene': 'TSSK4', 'score': 9.88}, {'connected_gene': 'PCK2', 'score': 0.77}, {'connected_gene': 'CPNE6', 'score': 0.37}]