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

Promoter

Chrom	Start	End	Description
chr12	49412304	49412319	CAGE_peak_8_at_PRKAG1_5end
chr12	49412346	49412358	CAGE_peak_11_at_PRKAG1_5end
chr12	49412370	49412383	CAGE_peak_6_at_PRKAG1_5end
chr12	49412525	49412539	CAGE_peak_2_at_PRKAG1_5end
chr12	49412541	49412580	CAGE_peak_1_at_PRKAG1_5end
chr12	49412588	49412594	CAGE_peak_3_at_PRKAG1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I048850	48850476	48853781	2.1	[{'connected_gene': 'DDX23', 'score': 607.9}, {'connected_gene': 'LOC105369755', 'score': 550.77}, {'connected_gene': 'CCNT1', 'score': 55.05}, {'connected_gene': 'KMT2D', 'score': 45.44}, {'connected_gene': 'SENP1', 'score': 41.88}, {'connected_gene': 'KANSL2', 'score': 40.87}, {'connected_gene': 'LOC390314', 'score': 32.94}, {'connected_gene': 'LMBR1L', 'score': 26.29}, {'connected_gene': 'ENSG00000257964', 'score': 11.68}, {'connected_gene': 'PRPF40B', 'score': 10.73}, {'connected_gene': 'PRKAG1', 'score': 10.39}, {'connected_gene': 'SPATS2', 'score': 10.12}, {'connected_gene': 'BCDIN3D', 'score': 9.68}, {'connected_gene': 'CCDC65', 'score': 5.68}]
chr12	GH12I049017	49017037	49021005	2.08	[{'connected_gene': 'PRKAG1', 'score': 550.77}, {'connected_gene': 'DDN', 'score': 30.78}, {'connected_gene': 'DDX23', 'score': 15.88}, {'connected_gene': 'CCNT1', 'score': 13.32}, {'connected_gene': 'LOC390314', 'score': 11.35}, {'connected_gene': 'LMBR1L', 'score': 10.32}, {'connected_gene': 'KMT2D', 'score': 10.03}, {'connected_gene': 'SENP1', 'score': 10.01}, {'connected_gene': 'DDN-AS1', 'score': 0.34}]
chr12	GH12I049015	49015138	49015168	0.38	[{'connected_gene': 'PRKAG1', 'score': 0.77}, {'connected_gene': 'DDN', 'score': 0.39}, {'connected_gene': 'DDN-AS1', 'score': 0.37}]
chr12	GH12I049012	49012793	49014850	1.07	[{'connected_gene': 'PRKAG1', 'score': 550.44}, {'connected_gene': 'DDN', 'score': 30.72}, {'connected_gene': 'DDN-AS1', 'score': 0.37}]
chr12	GH12I048104	48104238	48108341	2.11	[{'connected_gene': 'SENP1', 'score': 593.55}, {'connected_gene': 'PFKM', 'score': 550.77}, {'connected_gene': 'DDX23', 'score': 75.47}, {'connected_gene': 'KMT2D', 'score': 63.45}, {'connected_gene': 'CCNT1', 'score': 62.92}, {'connected_gene': 'LOC390314', 'score': 52.81}, {'connected_gene': 'KANSL2', 'score': 48.84}, {'connected_gene': 'RPL37P19', 'score': 31.3}, {'connected_gene': 'OR5BK1P', 'score': 30.48}, {'connected_gene': 'HDAC7', 'score': 23.07}, {'connected_gene': 'ADCY6', 'score': 21.1}, {'connected_gene': 'RPAP3', 'score': 19.31}, {'connected_gene': 'ZNF641', 'score': 16.44}, {'connected_gene': 'H1FNT', 'score': 15.89}, {'connected_gene': 'RNU6-1203P', 'score': 10.72}, {'connected_gene': 'C12orf54', 'score': 10.55}, {'connected_gene': 'PRKAG1', 'score': 10.31}, {'connected_gene': 'TMEM106C', 'score': 9.98}, {'connected_gene': 'ASB8', 'score': 9.74}, {'connected_gene': 'CCDC184', 'score': 9.66}, {'connected_gene': 'ENDOU', 'score': 4.24}]
chr12	GH12I049129	49129079	49133654	2.35	[{'connected_gene': 'ENSG00000200309', 'score': 550.77}, {'connected_gene': 'TUBA1B', 'score': 550.77}, {'connected_gene': 'GC12M049133', 'score': 550.77}, {'connected_gene': 'DDX23', 'score': 103.71}, {'connected_gene': 'LMBR1L', 'score': 94.6}, {'connected_gene': 'KMT2D', 'score': 90.82}, {'connected_gene': 'SMARCD1', 'score': 89.14}, {'connected_gene': 'LOC390314', 'score': 77.32}, {'connected_gene': 'BCDIN3D', 'score': 69.37}, {'connected_gene': 'CCNT1', 'score': 68.9}, {'connected_gene': 'PRPF40B', 'score': 64.33}, {'connected_gene': 'KANSL2', 'score': 63.56}, {'connected_gene': 'LOC100422296', 'score': 43.94}, {'connected_gene': 'OR5BK1P', 'score': 39.52}, {'connected_gene': 'ENSG00000257964', 'score': 30.91}, {'connected_gene': 'LOC102725258', 'score': 29.89}, {'connected_gene': 'LOC105369760', 'score': 24.94}, {'connected_gene': 'FAM186B', 'score': 23.74}, {'connected_gene': 'ADCY6', 'score': 21.09}, {'connected_gene': 'LOC101927267', 'score': 19.71}, {'connected_gene': 'ENSG00000272368', 'score': 19.27}, {'connected_gene': 'SPATS2', 'score': 18.27}, {'connected_gene': 'CCDC184', 'score': 12.5}, {'connected_gene': 'BCDIN3D-AS1', 'score': 11.28}, {'connected_gene': 'CACNB3', 'score': 10.03}, {'connected_gene': 'OR8T1P', 'score': 9.77}, {'connected_gene': 'PRKAG1', 'score': 4.91}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000548362	[[49396056, 49396653], [49396747, 49396789], [49396926, 49397073], [49397340, 49397376]]	[[49396596, 49396653], [49396747, 49396789], [49396926, 49397073], [49397340, 49397376]]
ENST00000395170	[[49396057, 49396789], [49396926, 49397073], [49397340, 49397378], [49397539, 49397705], [49398289, 49398416], [49398746, 49398801], [49398902, 49398948], [49399088, 49399147], [49399244, 49399375], [49399525, 49399635], [49406844, 49406893], [49412514, 49412592]]	[[49396681, 49396789], [49396926, 49397073], [49397340, 49397378], [49397539, 49397705], [49398289, 49398416], [49398746, 49398801], [49398902, 49398948], [49399088, 49399145]]
ENST00000547306	[[49396060, 49396789], [49396926, 49397073], [49397340, 49397378], [49397539, 49397705], [49398289, 49398416], [49398746, 49398801], [49398902, 49398948], [49399088, 49399147], [49399244, 49399326], [49406844, 49406893], [49412514, 49412547]]	[[49396681, 49396789], [49396926, 49397073], [49397340, 49397378], [49397539, 49397705], [49398289, 49398416], [49398746, 49398801], [49398902, 49398948], [49399088, 49399147], [49399244, 49399326], [49406844, 49406859]]
ENST00000316299	[[49396060, 49396789], [49396926, 49397073], [49397340, 49397378], [49397539, 49397705], [49398289, 49398416], [49398746, 49398801], [49398902, 49398948], [49399088, 49399174], [49399244, 49399326], [49399525, 49399635], [49406844, 49406893], [49412514, 49412562]]	[[49396681, 49396789], [49396926, 49397073], [49397340, 49397378], [49397539, 49397705], [49398289, 49398416], [49398746, 49398801], [49398902, 49398948], [49399088, 49399174], [49399244, 49399326], [49399525, 49399635], [49406844, 49406893], [49412514, 49412523]]
ENST00000548065	[[49396063, 49396789], [49396926, 49397073], [49397340, 49397378], [49397539, 49397705], [49398289, 49398416], [49398746, 49398801], [49398902, 49398948], [49399088, 49399147], [49399244, 49399326], [49399525, 49399635], [49406844, 49406893], [49412514, 49412980]]	[[49396681, 49396789], [49396926, 49397073], [49397340, 49397378], [49397539, 49397705], [49398289, 49398416], [49398746, 49398801], [49398902, 49398948], [49399088, 49399147], [49399244, 49399326], [49399525, 49399635], [49406844, 49406893], [49412514, 49412523]]
ENST00000546531	[[49396094, 49396789], [49396926, 49397073], [49397340, 49397378], [49397539, 49397705], [49398289, 49398416], [49398746, 49398801], [49398902, 49398948], [49399088, 49399147], [49399244, 49399375], [49399525, 49399635], [49406844, 49406893], [49412514, 49412570]]	[[49399294, 49399375], [49399525, 49399635], [49406844, 49406893], [49412514, 49412523]]
ENST00000552212	[[49396396, 49396789], [49396926, 49397073], [49397340, 49397378], [49397539, 49397705], [49398289, 49398416], [49398746, 49398801], [49398902, 49398948], [49399088, 49399147], [49399244, 49399326], [49399525, 49399635], [49406844, 49406893], [49412306, 49412531]]	[[49396681, 49396789], [49396926, 49397073], [49397340, 49397378], [49397539, 49397705], [49398289, 49398416], [49398746, 49398801], [49398902, 49398948], [49399088, 49399147], [49399244, 49399326], [49399525, 49399597]]
ENST00000551770	[[49396422, 49396789], [49396926, 49397073], [49397539, 49397705], [49398746, 49398801], [49398902, 49398948], [49399088, 49399147], [49399244, 49399326], [49399525, 49399618]]	[[49396681, 49396789], [49396926, 49397073], [49397539, 49397705], [49398746, 49398801], [49398902, 49398948], [49399088, 49399147], [49399244, 49399326], [49399525, 49399618]]
ENST00000551696	[[49396751, 49396789], [49396926, 49397073], [49397539, 49397705], [49398746, 49398801], [49398902, 49398948], [49399088, 49399147], [49399244, 49399326], [49406844, 49406893], [49412514, 49412560]]	[[49396751, 49396789], [49396926, 49397073], [49397539, 49397705], [49398746, 49398801], [49398902, 49398948], [49399088, 49399147], [49399244, 49399326], [49406844, 49406859]]
ENST00000550125	[[49397539, 49397705], [49398289, 49398416], [49398746, 49398801], [49398902, 49398948], [49399088, 49399326], [49406844, 49406893], [49412514, 49412558]]	None
ENST00000552793	[[49397544, 49397705], [49398289, 49398416], [49398746, 49398801], [49398902, 49398948], [49399088, 49399147], [49399244, 49399612]]	None
ENST00000548950	[[49397554, 49397705], [49398289, 49398416], [49398746, 49398801], [49398902, 49398948], [49399088, 49399147], [49399244, 49399326], [49399450, 49399525], [49406844, 49406893], [49412514, 49412533]]	[[49397554, 49397705], [49398289, 49398416], [49398746, 49398801], [49398902, 49398948], [49399088, 49399145]]
ENST00000549726	[[49397592, 49397705], [49398289, 49398801], [49398902, 49398948], [49399088, 49399147], [49399244, 49399326], [49399525, 49399635], [49406844, 49406893], [49412514, 49412547]]	None
ENST00000551121	[[49397662, 49397705], [49398289, 49398416], [49398746, 49398801], [49398902, 49398948], [49399088, 49399147], [49399244, 49399326], [49399525, 49399664], [49406844, 49406893], [49412514, 49412526]]	[[49397662, 49397705], [49398289, 49398416], [49398746, 49398801], [49398902, 49398948], [49399088, 49399147], [49399244, 49399326], [49399525, 49399597]]
ENST00000550448	[[49398006, 49398801], [49398902, 49398948], [49399088, 49399147], [49399244, 49399326], [49399525, 49399635], [49406844, 49406893], [49412514, 49412547]]	None
ENST00000552463	[[49398354, 49398416], [49398746, 49398801], [49398902, 49398948], [49399088, 49399147], [49399244, 49399326], [49399525, 49399635], [49406844, 49406893], [49410389, 49410622], [49412116, 49412198]]	[[49398354, 49398416], [49398746, 49398801], [49398902, 49398948], [49399088, 49399147], [49399244, 49399326], [49399525, 49399597]]
ENST00000548857	[[49398913, 49398948], [49399088, 49399147], [49399244, 49399326], [49399525, 49399635], [49402208, 49402382], [49406844, 49406893], [49412514, 49412558]]	[[49398913, 49398948], [49399088, 49399147], [49399244, 49399326], [49399525, 49399597]]
ENST00000548605	[[49398920, 49398948], [49399088, 49399147], [49399244, 49399375], [49399525, 49399635], [49402208, 49402382], [49406844, 49406893], [49412514, 49412531]]	[[49398920, 49398948], [49399088, 49399145]]
ENST00000547082	[[49399093, 49399147], [49399244, 49399326], [49399525, 49399635], [49406844, 49406893], [49410389, 49410622], [49412514, 49412590]]	[[49399093, 49399147], [49399244, 49399326], [49399525, 49399597]]
ENST00000547125	[[49399577, 49399635], [49406844, 49406893], [49410939, 49411333], [49412514, 49412540]]	[[49399577, 49399635], [49406844, 49406893], [49410939, 49410963]]
ENST00000552657	[[49406395, 49406893], [49412514, 49412569]]	None
NM_001206710	[[49396054, 49396789], [49396926, 49397073], [49397340, 49397378], [49397539, 49397705], [49398289, 49398416], [49398746, 49398801], [49398902, 49398948], [49399088, 49399147], [49399244, 49399326], [49399525, 49399635], [49406844, 49406893], [49412306, 49412531]]	[[49396681, 49396789], [49396926, 49397073], [49397340, 49397378], [49397539, 49397705], [49398289, 49398416], [49398746, 49398801], [49398902, 49398948], [49399088, 49399147], [49399244, 49399326], [49399525, 49399597]]
NM_001206709	[[49396054, 49396789], [49396926, 49397073], [49397340, 49397378], [49397539, 49397705], [49398289, 49398416], [49398746, 49398801], [49398902, 49398948], [49399088, 49399174], [49399244, 49399326], [49399525, 49399635], [49406844, 49406893], [49412514, 49412629]]	[[49396681, 49396789], [49396926, 49397073], [49397340, 49397378], [49397539, 49397705], [49398289, 49398416], [49398746, 49398801], [49398902, 49398948], [49399088, 49399174], [49399244, 49399326], [49399525, 49399635], [49406844, 49406893], [49412514, 49412523]]
NM_002733	[[49396054, 49396789], [49396926, 49397073], [49397340, 49397378], [49397539, 49397705], [49398289, 49398416], [49398746, 49398801], [49398902, 49398948], [49399088, 49399147], [49399244, 49399326], [49399525, 49399635], [49406844, 49406893], [49412514, 49412629]]	[[49396681, 49396789], [49396926, 49397073], [49397340, 49397378], [49397539, 49397705], [49398289, 49398416], [49398746, 49398801], [49398902, 49398948], [49399088, 49399147], [49399244, 49399326], [49399525, 49399635], [49406844, 49406893], [49412514, 49412523]]