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
ENST00000537065	[[60691934, 60692205], [60694050, 60694103]]	None
ENST00000544065	[[60691941, 60692015], [60694675, 60694890], [60695112, 60695331], [60696100, 60696432], [60697981, 60698131]]	[[60696352, 60696432], [60697981, 60698131]]
ENST00000453848	[[60691947, 60692205], [60694675, 60694890], [60695112, 60695331], [60696100, 60696432], [60697981, 60698131], [60699160, 60699356], [60699455, 60699599], [60701013, 60701216], [60701959, 60702236], [60702723, 60702915], [60703335, 60704495]]	[[60692105, 60692205], [60694675, 60694890], [60695112, 60695331], [60696100, 60696432], [60697981, 60698131], [60699160, 60699356], [60699455, 60699599], [60701013, 60701216], [60701959, 60702236], [60702723, 60702915], [60703335, 60704379]]
ENST00000005286	[[60691952, 60692205], [60694675, 60694890], [60695112, 60695331], [60696100, 60696432], [60697981, 60698131], [60699157, 60699356], [60699455, 60699599], [60701013, 60701216], [60701959, 60702236], [60702723, 60702915], [60703335, 60704631]]	[[60692105, 60692205], [60694675, 60694890], [60695112, 60695331], [60696100, 60696432], [60697981, 60698131], [60699157, 60699356], [60699455, 60699599], [60701013, 60701216], [60701959, 60702236], [60702723, 60702915], [60703335, 60704379]]
ENST00000543732	[[60691963, 60692205], [60692679, 60693179]]	None
ENST00000540276	[[60691969, 60692205], [60694830, 60694890], [60695112, 60695330]]	None
ENST00000537110	[[60693175, 60693556], [60694050, 60694115]]	None
ENST00000534983	[[60694520, 60694890], [60695112, 60695331], [60696100, 60696432], [60697981, 60698131], [60699160, 60699356], [60699455, 60699599], [60701013, 60702079]]	None
ENST00000544098	[[60694539, 60694890], [60695112, 60695331], [60696100, 60696432], [60697981, 60698131], [60699160, 60702089]]	None
ENST00000536409	[[60699226, 60699356], [60701013, 60701216], [60701959, 60702080]]	[[60699226, 60699356], [60701013, 60701216], [60701959, 60702080]]
ENST00000539899	[[60699475, 60699599], [60701013, 60701043], [60701209, 60701477]]	None
ENST00000536928	[[60701468, 60701677], [60701959, 60702236], [60702723, 60702819]]	None
ENST00000538090	[[60701809, 60702236], [60702723, 60702887]]	None
ENST00000540112	[[60702114, 60702236], [60702723, 60704614]]	[[60702114, 60702236], [60702723, 60702942]]
ENST00000535480	[[60702789, 60702915], [60703335, 60703488], [60704218, 60704631]]	[[60702789, 60702915], [60703335, 60703488], [60704218, 60704251]]
NM_178031	[[60691912, 60692205], [60694675, 60694890], [60695112, 60695331], [60696100, 60696432], [60697981, 60698131], [60699160, 60699356], [60699455, 60699599], [60701013, 60701216], [60701959, 60702236], [60702723, 60702915], [60703335, 60704631]]	[[60692105, 60692205], [60694675, 60694890], [60695112, 60695331], [60696100, 60696432], [60697981, 60698131], [60699160, 60699356], [60699455, 60699599], [60701013, 60701216], [60701959, 60702236], [60702723, 60702915], [60703335, 60704379]]
NM_017870	[[60691912, 60692205], [60694675, 60694890], [60695112, 60695331], [60696100, 60696432], [60697981, 60698131], [60699157, 60699356], [60699455, 60699599], [60701013, 60701216], [60701959, 60702236], [60702723, 60702915], [60703335, 60704631]]	[[60692105, 60692205], [60694675, 60694890], [60695112, 60695331], [60696100, 60696432], [60697981, 60698131], [60699157, 60699356], [60699455, 60699599], [60701013, 60701216], [60701959, 60702236], [60702723, 60702915], [60703335, 60704379]]

Promoter

Chrom	Start	End	Description
chr11	60691749	60691762	CAGE_peak_4_at_TMEM132A_5end
chr11	60691924	60691966	CAGE_peak_1_at_TMEM132A_5end
chr11	60699222	60699225	CAGE_peak_2_at_TMEM132A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I060970	60970601	60975095	1.72	[{'connected_gene': 'CD6', 'score': 570.28}, {'connected_gene': 'CD5', 'score': 22.13}, {'connected_gene': 'SLC15A3', 'score': 11.97}, {'connected_gene': 'TMEM132A', 'score': 11.87}, {'connected_gene': 'VPS37C', 'score': 10.96}, {'connected_gene': 'CCDC86', 'score': 5.41}, {'connected_gene': 'FTH1', 'score': 4.22}, {'connected_gene': 'SDHAF2', 'score': 1.17}, {'connected_gene': 'RNU6-933P', 'score': 0.39}]
chr11	GH11I061040	61040969	61043954	1.39	[{'connected_gene': 'CD6', 'score': 33.6}, {'connected_gene': 'CD5', 'score': 15.97}, {'connected_gene': 'SLC15A3', 'score': 11.17}, {'connected_gene': 'TMEM132A', 'score': 11.13}, {'connected_gene': 'SDHAF2', 'score': 1.3}, {'connected_gene': 'ENSG00000256733', 'score': 0.39}, {'connected_gene': 'LOC105369326', 'score': 0.29}, {'connected_gene': 'LOC105369325', 'score': 0.25}]
chr11	GH11I061173	61173569	61173718	0.74	[{'connected_gene': 'CD6', 'score': 10.97}, {'connected_gene': 'SLC15A3', 'score': 10.83}, {'connected_gene': 'TMEM132A', 'score': 10.82}, {'connected_gene': 'CD5', 'score': 10.68}, {'connected_gene': 'TKFC', 'score': 9.54}, {'connected_gene': 'DDB1', 'score': 9.54}, {'connected_gene': 'GC11P061168', 'score': 0.44}, {'connected_gene': 'PGA3', 'score': 0.31}]
chr11	GH11I061174	61174289	61174478	0.69	[{'connected_gene': 'CD6', 'score': 10.97}, {'connected_gene': 'SLC15A3', 'score': 10.83}, {'connected_gene': 'TMEM132A', 'score': 10.82}, {'connected_gene': 'CD5', 'score': 10.68}, {'connected_gene': 'TKFC', 'score': 9.54}, {'connected_gene': 'DDB1', 'score': 9.54}, {'connected_gene': 'GC11P061168', 'score': 0.44}, {'connected_gene': 'PGA3', 'score': 0.31}]
chr11	GH11I061001	61001413	61002679	0.2	[{'connected_gene': 'CD6', 'score': 18.27}, {'connected_gene': 'SLC15A3', 'score': 11.3}, {'connected_gene': 'TMEM132A', 'score': 11.24}, {'connected_gene': 'GC11M060996', 'score': 0.77}, {'connected_gene': 'LOC105369326', 'score': 0.44}]
chr11	GH11I061003	61003606	61005548	0.8	[{'connected_gene': 'CD6', 'score': 18.88}, {'connected_gene': 'SLC15A3', 'score': 11.29}, {'connected_gene': 'TMEM132A', 'score': 11.23}, {'connected_gene': 'LOC105369326', 'score': 0.77}, {'connected_gene': 'GC11M060996', 'score': 0.44}]
chr11	GH11I061000	61000128	61001326	0.2	[{'connected_gene': 'CD6', 'score': 19.74}, {'connected_gene': 'SLC15A3', 'score': 11.3}, {'connected_gene': 'TMEM132A', 'score': 11.24}, {'connected_gene': 'GC11M060996', 'score': 0.77}, {'connected_gene': 'LOC105369326', 'score': 0.44}]
chr11	GH11I061171	61171565	61173085	0.89	[{'connected_gene': 'CD5', 'score': 25.0}, {'connected_gene': 'CD6', 'score': 10.97}, {'connected_gene': 'RNU6-933P', 'score': 10.92}, {'connected_gene': 'SLC15A3', 'score': 10.83}, {'connected_gene': 'TMEM132A', 'score': 10.82}, {'connected_gene': 'TKFC', 'score': 9.87}, {'connected_gene': 'DDB1', 'score': 9.87}, {'connected_gene': 'GC11P061168', 'score': 0.44}, {'connected_gene': 'PGA3', 'score': 0.29}]
chr11	GH11I061580	61580323	61582138	2.04	[{'connected_gene': 'SYT7', 'score': 550.44}, {'connected_gene': 'TMEM132A', 'score': 10.49}, {'connected_gene': 'TMEM216', 'score': 4.58}, {'connected_gene': 'LOC105369331', 'score': 0.44}, {'connected_gene': 'ENSG00000256443', 'score': 0.28}]
chr11	GH11I061064	61064981	61067511	0.68	[{'connected_gene': 'VPS37C', 'score': 11.63}, {'connected_gene': 'CD5', 'score': 11.58}, {'connected_gene': 'CD6', 'score': 11.54}, {'connected_gene': 'SLC15A3', 'score': 11.43}, {'connected_gene': 'TMEM132A', 'score': 11.41}, {'connected_gene': 'RNU6-933P', 'score': 11.23}, {'connected_gene': 'ENSG00000256733', 'score': 0.39}, {'connected_gene': 'LOC105369325', 'score': 0.31}]
chr11	GH11I060923	60923829	60925889	1.94	[{'connected_gene': 'TMEM132A', 'score': 550.77}, {'connected_gene': 'ENSG00000256196', 'score': 550.77}, {'connected_gene': 'CPSF7', 'score': 19.58}, {'connected_gene': 'TMEM138', 'score': 16.37}, {'connected_gene': 'RN7SL23P', 'score': 15.65}, {'connected_gene': 'TMEM109', 'score': 11.4}, {'connected_gene': 'RNU6-933P', 'score': 10.52}, {'connected_gene': 'PTGDR2', 'score': 5.22}, {'connected_gene': 'GC11P060921', 'score': 0.77}]
chr11	GH11I060892	60892598	60893268	0.46	[{'connected_gene': 'TMEM132A', 'score': 7.77}, {'connected_gene': 'PRPF19', 'score': 7.57}, {'connected_gene': 'PIR47747', 'score': 0.34}]
chr11	GH11I060922	60922303	60923354	0.31	[{'connected_gene': 'TMEM132A', 'score': 550.77}, {'connected_gene': 'GC11P060921', 'score': 550.77}, {'connected_gene': 'RNU6-933P', 'score': 10.52}, {'connected_gene': 'ENSG00000256196', 'score': 0.77}, {'connected_gene': 'TMEM109', 'score': 0.44}]
chr11	GH11I060925	60925949	60926138	0.46	[{'connected_gene': 'TMEM132A', 'score': 550.77}, {'connected_gene': 'ENSG00000256196', 'score': 550.77}, {'connected_gene': 'GC11P060921', 'score': 0.77}, {'connected_gene': 'GC11P060938', 'score': 0.39}]
chr11	GH11I060932	60932109	60932258	0.31	[{'connected_gene': 'TMEM132A', 'score': 0.44}, {'connected_gene': 'ENSG00000256196', 'score': 0.44}, {'connected_gene': 'GC11P060938', 'score': 0.44}]
chr11	GH11I060980	60980670	60985328	0.54	[{'connected_gene': 'SLC15A3', 'score': 11.92}, {'connected_gene': 'TMEM132A', 'score': 11.85}, {'connected_gene': 'CD5', 'score': 11.21}, {'connected_gene': 'VPS37C', 'score': 10.97}, {'connected_gene': 'CD6', 'score': 6.04}, {'connected_gene': 'FTH1', 'score': 5.12}, {'connected_gene': 'RNU6-933P', 'score': 0.77}]
chr11	GH11I060975	60975601	60975800	0.4	[{'connected_gene': 'SLC15A3', 'score': 11.97}, {'connected_gene': 'TMEM132A', 'score': 11.86}, {'connected_gene': 'CD5', 'score': 11.21}, {'connected_gene': 'VPS37C', 'score': 10.96}, {'connected_gene': 'CD6', 'score': 0.77}, {'connected_gene': 'RNU6-933P', 'score': 0.44}]
chr11	GH11I060976	60976865	60980370	0.8	[{'connected_gene': 'SLC15A3', 'score': 11.94}, {'connected_gene': 'TMEM132A', 'score': 11.86}, {'connected_gene': 'CD5', 'score': 11.2}, {'connected_gene': 'VPS37C', 'score': 10.96}, {'connected_gene': 'FTH1', 'score': 5.1}, {'connected_gene': 'PTGDR2', 'score': 4.93}, {'connected_gene': 'CD6', 'score': 4.81}, {'connected_gene': 'RNU6-933P', 'score': 0.44}]
chr11	GH11I060939	60939146	60945222	0.79	[{'connected_gene': 'PTGDR2', 'score': 8.29}, {'connected_gene': 'PRPF19', 'score': 8.09}, {'connected_gene': 'TMEM132A', 'score': 6.12}, {'connected_gene': 'GC11P060938', 'score': 0.77}, {'connected_gene': 'SLC15A3', 'score': 0.39}]
chr11	GH11I060947	60947627	60948862	0.38	[{'connected_gene': 'PTGDR2', 'score': 6.9}, {'connected_gene': 'PRPF19', 'score': 6.01}, {'connected_gene': 'TMEM132A', 'score': 5.02}, {'connected_gene': 'SLC15A3', 'score': 0.77}, {'connected_gene': 'GC11P060938', 'score': 0.44}]
chr11	GH11I061047	61047413	61049142	0.38	[{'connected_gene': 'RNU6-933P', 'score': 11.73}, {'connected_gene': 'SLC15A3', 'score': 11.04}, {'connected_gene': 'TMEM132A', 'score': 11.01}, {'connected_gene': 'VPS37C', 'score': 10.97}, {'connected_gene': 'ENSG00000256733', 'score': 0.44}, {'connected_gene': 'LOC105369326', 'score': 0.28}, {'connected_gene': 'LOC105369325', 'score': 0.26}]
chr11	GH11I061007	61007303	61009054	0.96	[{'connected_gene': 'LOC105369326', 'score': 550.77}, {'connected_gene': 'CD6', 'score': 30.17}, {'connected_gene': 'SLC15A3', 'score': 11.28}, {'connected_gene': 'TMEM132A', 'score': 11.23}, {'connected_gene': 'GC11M060996', 'score': 0.39}]