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
ENST00000588623	[[5083960, 5084062], [5092095, 5092968], [5122951, 5123029], [5123153, 5123257], [5125388, 5125537], [5127445, 5127535], [5127907, 5128018], [5128757, 5128879], [5129064, 5129103], [5129748, 5129808], [5130946, 5131057], [5132559, 5132674], [5133682, 5133758], [5134750, 5135391]]	[[5123200, 5123257], [5125388, 5125537], [5127445, 5127535], [5127907, 5128018], [5128757, 5128879], [5129064, 5129103], [5129748, 5129808], [5130946, 5131057], [5132559, 5132674], [5133682, 5133758], [5134750, 5134882]]
ENST00000591961	[[5083702, 5084062], [5092095, 5094000]]	None
ENST00000262374	[[5121819, 5122058], [5122951, 5123029], [5123153, 5123257], [5125388, 5125537], [5127445, 5127535], [5127907, 5128018], [5128757, 5128879], [5129064, 5129103], [5129748, 5129808], [5130946, 5131057], [5132559, 5132674], [5133682, 5133758], [5134750, 5135395]]	[[5121850, 5122058], [5122951, 5123029], [5123153, 5123257], [5125388, 5125537], [5127445, 5127535], [5127907, 5128018], [5128757, 5128879], [5129064, 5129103], [5129748, 5129808], [5130946, 5131057], [5132559, 5132674], [5133682, 5133758], [5134750, 5134882]]
ENST00000586840	[[5121822, 5122058], [5122951, 5123029], [5123153, 5123257], [5125398, 5125537], [5127445, 5127470]]	[[5121850, 5122058], [5122951, 5123029], [5123153, 5123257], [5125398, 5125537], [5127445, 5127470]]
ENST00000592793	[[5121843, 5122058], [5122951, 5123029], [5123153, 5123429]]	None
ENST00000591822	[[5121849, 5122214], [5122951, 5123029], [5123153, 5123257], [5125388, 5125537], [5127445, 5127535], [5127907, 5128018], [5128757, 5128879], [5129064, 5129103], [5129748, 5129808], [5130946, 5131057], [5132559, 5132674], [5133682, 5133758], [5134750, 5135019]]	[[5121850, 5122105]]
ENST00000591783	[[5122205, 5122319], [5122951, 5123029], [5123153, 5123257], [5125388, 5125537], [5127445, 5127535], [5127907, 5128018], [5128757, 5128853]]	[[5123200, 5123257], [5125388, 5125537], [5127445, 5127535], [5127907, 5128018], [5128757, 5128853]]
ENST00000544428	[[5122248, 5122304], [5122951, 5123029], [5123153, 5123257], [5125388, 5125537], [5127445, 5127535], [5127907, 5128018], [5128757, 5128879], [5129064, 5129103], [5129748, 5129808], [5130946, 5131057], [5132559, 5132674], [5133682, 5133758], [5134750, 5135058]]	[[5123200, 5123257], [5125388, 5125537], [5127445, 5127535], [5127907, 5128018], [5128757, 5128879], [5129064, 5129103], [5129748, 5129808], [5130946, 5131057], [5132559, 5132674], [5133682, 5133758], [5134750, 5134882]]
ENST00000592661	[[5135071, 5135665], [5136501, 5137380]]	None
NM_019109	[[5121809, 5122058], [5122951, 5123029], [5123153, 5123257], [5125388, 5125537], [5127445, 5127535], [5127907, 5128018], [5128757, 5128879], [5129064, 5129103], [5129748, 5129808], [5130946, 5131057], [5132559, 5132674], [5133682, 5133758], [5134750, 5137380]]	[[5121850, 5122058], [5122951, 5123029], [5123153, 5123257], [5125388, 5125537], [5127445, 5127535], [5127907, 5128018], [5128757, 5128879], [5129064, 5129103], [5129748, 5129808], [5130946, 5131057], [5132559, 5132674], [5133682, 5133758], [5134750, 5134882]]
NM_001330504	[[5122248, 5122304], [5122951, 5123029], [5123153, 5123257], [5125388, 5125537], [5127445, 5127535], [5127907, 5128018], [5128757, 5128879], [5129064, 5129103], [5129748, 5129808], [5130946, 5131057], [5132559, 5132674], [5133682, 5133758], [5134750, 5137380]]	[[5123200, 5123257], [5125388, 5125537], [5127445, 5127535], [5127907, 5128018], [5128757, 5128879], [5129064, 5129103], [5129748, 5129808], [5130946, 5131057], [5132559, 5132674], [5133682, 5133758], [5134750, 5134882]]

Promoter

Chrom	Start	End	Description
chr16	5083950	5083971	CAGE_peak_2_at_ALG1_5end
chr16	5121814	5121855	CAGE_peak_1_at_ALG1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I004692	4692080	4696365	2.19	[{'connected_gene': 'NUDT16L1', 'score': 550.77}, {'connected_gene': 'ZNF500', 'score': 32.68}, {'connected_gene': 'MGRN1', 'score': 29.47}, {'connected_gene': 'EEF2KMT', 'score': 22.15}, {'connected_gene': 'CREBBP', 'score': 21.85}, {'connected_gene': 'UBN1', 'score': 13.2}, {'connected_gene': 'ANKS3', 'score': 12.82}, {'connected_gene': 'ALG1', 'score': 10.51}, {'connected_gene': 'GLYR1', 'score': 9.86}, {'connected_gene': 'HMOX2', 'score': 5.95}, {'connected_gene': 'GC16P004728', 'score': 0.29}]
chr16	GH16I004211	4211823	4222864	1.56	[{'connected_gene': 'SRL', 'score': 24.53}, {'connected_gene': 'ZNF597', 'score': 20.21}, {'connected_gene': 'ZNF200', 'score': 12.28}, {'connected_gene': 'UBN1', 'score': 12.25}, {'connected_gene': 'ZNF263', 'score': 12.14}, {'connected_gene': 'ALG1', 'score': 11.63}, {'connected_gene': 'ADCY9', 'score': 11.46}, {'connected_gene': 'CREBBP', 'score': 10.6}, {'connected_gene': 'ZNF500', 'score': 10.42}, {'connected_gene': 'LINC01569', 'score': 6.11}, {'connected_gene': 'PPL', 'score': 4.79}, {'connected_gene': 'ZNF75A', 'score': 4.56}, {'connected_gene': 'HMOX2', 'score': 4.5}, {'connected_gene': 'GC16P004207', 'score': 0.44}, {'connected_gene': 'GC16P004232', 'score': 0.37}]
chr16	GH16I005042	5042600	5042629	0.66	[{'connected_gene': 'ALG1', 'score': 0.44}, {'connected_gene': 'NAGPA', 'score': 0.44}, {'connected_gene': 'C16orf89', 'score': 0.34}, {'connected_gene': 'NAGPA-AS1', 'score': 0.29}]
chr16	GH16I005032	5032547	5037549	2.49	[{'connected_gene': 'NAGPA', 'score': 560.03}, {'connected_gene': 'ALG1', 'score': 550.77}, {'connected_gene': 'ZNF500', 'score': 17.89}, {'connected_gene': 'C16orf89', 'score': 12.75}, {'connected_gene': 'CDIP1', 'score': 11.22}, {'connected_gene': 'PPL', 'score': 10.19}, {'connected_gene': 'NAGPA-AS1', 'score': 0.34}]
chr16	GH16I004845	4845975	4849199	2.04	[{'connected_gene': 'UBN1', 'score': 558.9}, {'connected_gene': 'GLYR1', 'score': 555.56}, {'connected_gene': 'SEPT12', 'score': 12.74}, {'connected_gene': 'ROGDI', 'score': 12.62}, {'connected_gene': 'LOC102724927', 'score': 10.6}, {'connected_gene': 'ALG1', 'score': 10.54}, {'connected_gene': 'ENSG00000267077', 'score': 6.1}, {'connected_gene': 'SMIM22', 'score': 5.8}, {'connected_gene': 'PIR33451', 'score': 0.39}]
chr16	GH16I004666	4666710	4668404	0.67	[{'connected_gene': 'ZNF500', 'score': 24.71}, {'connected_gene': 'MGRN1', 'score': 22.04}, {'connected_gene': 'ALG1', 'score': 20.4}, {'connected_gene': 'EEF2KMT', 'score': 12.2}, {'connected_gene': 'ANKS3', 'score': 11.1}, {'connected_gene': 'MIR6769A', 'score': 0.77}, {'connected_gene': 'ENSG00000278700', 'score': 0.44}]
chr16	GH16I005070	5070870	5073210	2.05	[{'connected_gene': 'ZNF500', 'score': 17.89}, {'connected_gene': 'ANKS3', 'score': 10.95}, {'connected_gene': 'C16orf89', 'score': 0.44}, {'connected_gene': 'ENSG00000260882', 'score': 0.44}, {'connected_gene': 'ALG1', 'score': 0.28}]
chr16	GH16I005043	5041980	5042129	0.76	[{'connected_gene': 'C16orf89', 'score': 14.13}, {'connected_gene': 'ALG1', 'score': 0.44}, {'connected_gene': 'NAGPA', 'score': 0.44}, {'connected_gene': 'NAGPA-AS1', 'score': 0.29}]
chr16	GH16I005041	5041760	5041909	0.76	[{'connected_gene': 'C16orf89', 'score': 14.13}, {'connected_gene': 'ALG1', 'score': 0.44}, {'connected_gene': 'NAGPA', 'score': 0.44}, {'connected_gene': 'NAGPA-AS1', 'score': 0.29}]
chr16	GH16I005060	5060960	5060971	0.22	[{'connected_gene': 'C16orf89', 'score': 0.44}, {'connected_gene': 'ALG1', 'score': 0.31}, {'connected_gene': 'NAGPA', 'score': 0.31}]
chr16	GH16I005058	5058335	5059078	0.49	[{'connected_gene': 'C16orf89', 'score': 4.96}, {'connected_gene': 'ALG1', 'score': 0.34}, {'connected_gene': 'NAGPA', 'score': 0.34}]
chr16	GH16I005056	5056500	5056589	0.64	[{'connected_gene': 'C16orf89', 'score': 0.44}, {'connected_gene': 'ALG1', 'score': 0.34}, {'connected_gene': 'NAGPA', 'score': 0.34}]
chr16	GH16I005059	5059471	5060386	0.38	[{'connected_gene': 'C16orf89', 'score': 5.21}, {'connected_gene': 'ALG1', 'score': 0.31}, {'connected_gene': 'NAGPA', 'score': 0.31}]
chr16	GH16I005066	5066133	5066192	0.68	[{'connected_gene': 'C16orf89', 'score': 555.82}, {'connected_gene': 'ENSG00000260882', 'score': 0.39}, {'connected_gene': 'ALG1', 'score': 0.29}]
chr16	GH16I005064	5064694	5066041	1.35	[{'connected_gene': 'C16orf89', 'score': 574.66}, {'connected_gene': 'ZNF500', 'score': 13.43}, {'connected_gene': 'ALG1', 'score': 0.29}, {'connected_gene': 'NAGPA', 'score': 0.29}]
chr16	GH16I004252	4252820	4254477	1.79	[{'connected_gene': 'LINC01569', 'score': 562.53}, {'connected_gene': 'LOC105371063', 'score': 550.77}, {'connected_gene': 'CREBBP', 'score': 50.17}, {'connected_gene': 'ZNF500', 'score': 46.31}, {'connected_gene': 'ZNF263', 'score': 43.23}, {'connected_gene': 'ENSG00000261938', 'score': 37.98}, {'connected_gene': 'ZNF597', 'score': 33.51}, {'connected_gene': 'ZNF75A', 'score': 21.84}, {'connected_gene': 'UBN1', 'score': 12.48}, {'connected_gene': 'ANKS3', 'score': 10.93}, {'connected_gene': 'CDIP1', 'score': 10.5}, {'connected_gene': 'ALG1', 'score': 9.92}, {'connected_gene': 'TIGD7', 'score': 9.92}, {'connected_gene': 'MTCO1P28', 'score': 9.77}, {'connected_gene': 'GC16M004246', 'score': 0.44}]
chr16	GH16I005084	5084920	5085049	0.57	[{'connected_gene': 'ENSG00000260882', 'score': 0.44}, {'connected_gene': 'EEF2KMT', 'score': 0.39}, {'connected_gene': 'ALG1', 'score': 0.23}]