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
ENST00000359933	[[96747594, 96752322], [96755992, 96756142], [96756772, 96756927], [96757150, 96757272], [96757936, 96758019], [96758365, 96758435], [96761296, 96761504], [96761818, 96761897], [96768343, 96768445], [96769397, 96769592], [96770831, 96770940], [96771925, 96772152], [96773050, 96773253], [96775789, 96775931], [96777453, 96777624], [96777878, 96777955], [96778425, 96778496], [96779401, 96779494], [96779665, 96779772], [96781490, 96781571], [96781720, 96781920], [96782869, 96783020], [96783481, 96783654], [96784034, 96784192], [96788448, 96788591], [96788876, 96789072], [96790232, 96790335], [96791985, 96792259], [96794683, 96794872], [96795010, 96795103], [96795820, 96795971], [96797712, 96797974], [96798641, 96798747], [96798837, 96798992], [96800024, 96800210], [96800741, 96800838], [96807858, 96808038], [96809455, 96809618], [96810990, 96811093], [96811569, 96811722], [96813515, 96813678], [96829151, 96830207]]	[[96752091, 96752322], [96755992, 96756142], [96756772, 96756927], [96757150, 96757272], [96757936, 96758019], [96758365, 96758435], [96761296, 96761504], [96761818, 96761897], [96768343, 96768445], [96769397, 96769592], [96770831, 96770940], [96771925, 96772152], [96773050, 96773253], [96775789, 96775931], [96777453, 96777624], [96777878, 96777955], [96778425, 96778496], [96779401, 96779494], [96779665, 96779772], [96781490, 96781571], [96781720, 96781920], [96782869, 96783020], [96783481, 96783654], [96784034, 96784192], [96788448, 96788591], [96788876, 96789072], [96790232, 96790335], [96791985, 96792259], [96794683, 96794872], [96795010, 96795103], [96795820, 96795971], [96797712, 96797974], [96798641, 96798747], [96798837, 96798992], [96800024, 96800210], [96800741, 96800838], [96807858, 96808038], [96809455, 96809618], [96810990, 96811093], [96811569, 96811722], [96813515, 96813678], [96829151, 96829313]]
ENST00000555263	[[96755792, 96756142], [96756772, 96756914]]	None
ENST00000261834	[[96756472, 96756550], [96756772, 96756927], [96757150, 96757272], [96757936, 96758019], [96758365, 96758435], [96761296, 96761504], [96761818, 96761897], [96768343, 96768445], [96769397, 96769592], [96770831, 96770940], [96771925, 96772152], [96773050, 96773253], [96775789, 96775931], [96777453, 96777600]]	None
ENST00000553643	[[96756906, 96756927], [96757150, 96757272], [96757936, 96758275]]	None
ENST00000554151	[[96759318, 96759551], [96761296, 96761396]]	None
ENST00000473234	[[96783484, 96783654], [96788876, 96789072], [96790232, 96790335], [96790434, 96790515]]	None
ENST00000488421	[[96784059, 96784192], [96784570, 96784635], [96788448, 96788772]]	None
NM_018036	[[96745538, 96752322], [96755992, 96756142], [96756772, 96756927], [96757150, 96757272], [96757936, 96758019], [96758365, 96758435], [96761296, 96761504], [96761818, 96761897], [96768343, 96768445], [96769397, 96769592], [96770831, 96770940], [96771925, 96772152], [96773050, 96773253], [96775789, 96775931], [96777453, 96777624], [96777878, 96777955], [96778425, 96778496], [96779401, 96779494], [96779665, 96779772], [96781490, 96781571], [96781720, 96781920], [96782869, 96783020], [96783481, 96783654], [96784034, 96784192], [96788448, 96788591], [96788876, 96789072], [96790232, 96790335], [96791985, 96792259], [96794683, 96794872], [96795010, 96795103], [96795820, 96795971], [96797712, 96797974], [96798641, 96798747], [96798837, 96798992], [96800024, 96800210], [96800741, 96800838], [96807858, 96808038], [96809455, 96809618], [96810990, 96811093], [96811569, 96811722], [96813515, 96813678], [96829151, 96829738]]	[[96752091, 96752322], [96755992, 96756142], [96756772, 96756927], [96757150, 96757272], [96757936, 96758019], [96758365, 96758435], [96761296, 96761504], [96761818, 96761897], [96768343, 96768445], [96769397, 96769592], [96770831, 96770940], [96771925, 96772152], [96773050, 96773253], [96775789, 96775931], [96777453, 96777624], [96777878, 96777955], [96778425, 96778496], [96779401, 96779494], [96779665, 96779772], [96781490, 96781571], [96781720, 96781920], [96782869, 96783020], [96783481, 96783654], [96784034, 96784192], [96788448, 96788591], [96788876, 96789072], [96790232, 96790335], [96791985, 96792259], [96794683, 96794872], [96795010, 96795103], [96795820, 96795971], [96797712, 96797974], [96798641, 96798747], [96798837, 96798992], [96800024, 96800210], [96800741, 96800838], [96807858, 96808038], [96809455, 96809618], [96810990, 96811093], [96811569, 96811722], [96813515, 96813678], [96829151, 96829313]]

Promoter

Chrom	Start	End	Description
chr14	96829576	96829592	CAGE_peak_4_at_ATG2B_5end
chr14	96829615	96829633	CAGE_peak_3_at_ATG2B_5end
chr14	96829635	96829662	CAGE_peak_2_at_ATG2B_5end
chr14	96829670	96829759	CAGE_peak_1_at_ATG2B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I096796	96796724	96798807	2.01	[{'connected_gene': 'VRK1', 'score': 558.36}, {'connected_gene': 'PAPOLA', 'score': 13.8}, {'connected_gene': 'ATG2B', 'score': 10.13}, {'connected_gene': 'GC14P096860', 'score': 0.21}]
chr14	GH14I096260	96260212	96263945	0.98	[{'connected_gene': 'BDKRB2', 'score': 13.66}, {'connected_gene': 'ATG2B', 'score': 9.97}, {'connected_gene': 'PAPOLA', 'score': 9.28}, {'connected_gene': 'ENSG00000258793', 'score': 7.51}, {'connected_gene': 'GC14M096266', 'score': 0.77}, {'connected_gene': 'BDKRB1', 'score': 0.44}, {'connected_gene': 'ENSG00000258691', 'score': 0.22}]
chr14	GH14I096125	96125623	96127587	1.02	[{'connected_gene': 'ATG2B', 'score': 2.96}, {'connected_gene': 'BDKRB2', 'score': 0.18}, {'connected_gene': 'C14orf132', 'score': 0.17}]
chr14	GH14I096331	96331184	96331333	0.2	[{'connected_gene': 'ATG2B', 'score': 11.22}, {'connected_gene': 'GSKIP', 'score': 0.29}, {'connected_gene': 'ENSG00000258729', 'score': 0.23}]
chr14	GH14I095494	95494158	95498113	1.51	[{'connected_gene': 'ATG2B', 'score': 14.62}, {'connected_gene': 'SNHG10', 'score': 11.96}, {'connected_gene': 'BDKRB1', 'score': 9.81}, {'connected_gene': 'SYNE3', 'score': 5.86}, {'connected_gene': 'CLMN', 'score': 1.82}, {'connected_gene': 'LOC101929107', 'score': 0.37}, {'connected_gene': 'LOC105370641', 'score': 0.29}]
chr14	GH14I096282	96282544	96282693	0.2	[{'connected_gene': 'GSKIP', 'score': 7.23}, {'connected_gene': 'ENSG00000258729', 'score': 0.44}, {'connected_gene': 'ATG2B', 'score': 0.18}]
chr14	GH14I096361	96361362	96366013	1.98	[{'connected_gene': 'GSKIP', 'score': 605.33}, {'connected_gene': 'ATG2B', 'score': 550.77}]
chr14	GH14I096285	96285190	96286355	0.72	[{'connected_gene': 'GSKIP', 'score': 10.27}, {'connected_gene': 'PAPOLA', 'score': 9.45}, {'connected_gene': 'ENSG00000258729', 'score': 0.44}, {'connected_gene': 'ATG2B', 'score': 0.18}]
chr14	GH14I096307	96307776	96311710	0.59	[{'connected_gene': 'GSKIP', 'score': 67.03}, {'connected_gene': 'RNU2-33P', 'score': 10.45}, {'connected_gene': 'PAPOLA', 'score': 9.67}, {'connected_gene': 'ENSG00000258729', 'score': 0.29}, {'connected_gene': 'ATG2B', 'score': 0.23}]
chr14	GH14I096224	96224064	96226514	0.99	[{'connected_gene': 'SNHG10', 'score': 23.48}, {'connected_gene': 'SCARNA13', 'score': 16.63}, {'connected_gene': 'PAPOLA', 'score': 15.03}, {'connected_gene': 'ATG2B', 'score': 14.59}, {'connected_gene': 'GC14P096224', 'score': 0.77}, {'connected_gene': 'ENSG00000259036', 'score': 0.44}, {'connected_gene': 'BDKRB2', 'score': 0.34}, {'connected_gene': 'ENSG00000258691', 'score': 0.34}]
chr14	GH14I096116	96116248	96120632	1.09	[{'connected_gene': 'SNHG10', 'score': 13.07}, {'connected_gene': 'ATG2B', 'score': 9.36}, {'connected_gene': 'C14orf132', 'score': 0.18}, {'connected_gene': 'BDKRB2', 'score': 0.17}]
chr14	GH14I096350	96349352	96349628	0.31	[{'connected_gene': 'AK7', 'score': 11.82}, {'connected_gene': 'RNU2-33P', 'score': 10.59}, {'connected_gene': 'GSKIP', 'score': 10.55}, {'connected_gene': 'ATG2B', 'score': 0.39}, {'connected_gene': 'ENSG00000258729', 'score': 0.19}]
chr14	GH14I096349	96349784	96349973	0.31	[{'connected_gene': 'AK7', 'score': 11.82}, {'connected_gene': 'RNU2-33P', 'score': 10.61}, {'connected_gene': 'GSKIP', 'score': 0.39}, {'connected_gene': 'ATG2B', 'score': 0.39}, {'connected_gene': 'ENSG00000258729', 'score': 0.19}]
chr14	GH14I096573	96573115	96575213	0.85	[{'connected_gene': 'PAPOLA', 'score': 26.22}, {'connected_gene': 'LOC730202', 'score': 12.35}, {'connected_gene': 'ATG2B', 'score': 9.87}, {'connected_gene': 'GC14P096563', 'score': 0.39}, {'connected_gene': 'GC14P096593', 'score': 0.37}]
chr14	GH14I096460	96460575	96463476	0.92	[{'connected_gene': 'PAPOLA', 'score': 10.95}, {'connected_gene': 'ATG2B', 'score': 10.01}, {'connected_gene': 'GSKIP', 'score': 4.43}, {'connected_gene': 'RPL23AP10', 'score': 0.77}, {'connected_gene': 'AK7', 'score': 0.2}]
chr14	GH14I096888	96888589	96888866	1.09	[{'connected_gene': 'PAPOLA', 'score': 16.26}, {'connected_gene': 'ATG2B', 'score': 9.83}, {'connected_gene': 'GC14P096860', 'score': 0.31}, {'connected_gene': 'LINC00618', 'score': 0.26}, {'connected_gene': 'VRK1', 'score': 0.16}]
chr14	GH14I096279	96279684	96279833	0.31	[{'connected_gene': 'ENSG00000258729', 'score': 0.77}, {'connected_gene': 'GSKIP', 'score': 0.18}, {'connected_gene': 'ATG2B', 'score': 0.18}]