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
ENST00000377603	[[18447770, 18448212], [18449587, 18449705], [18453485, 18453553], [18454034, 18454102], [18455718, 18455831], [18460681, 18460825], [18461045, 18461153], [18462262, 18462454], [18464124, 18465287]]	[[18448150, 18448212], [18449587, 18449705], [18453485, 18453553], [18454034, 18454102], [18455718, 18455831], [18460681, 18460825], [18461045, 18461153], [18462262, 18462454], [18464124, 18464202]]
ENST00000461589	[[18448032, 18448212], [18449587, 18450012]]	None
ENST00000462997	[[18448032, 18448315], [18449587, 18449705], [18453485, 18453553], [18454034, 18454102], [18455718, 18455831], [18460681, 18460825], [18461045, 18461153], [18462262, 18462454], [18464124, 18465287]]	None
ENST00000497333	[[18448038, 18448212], [18453485, 18453553], [18461045, 18461153], [18464124, 18464470]]	None
ENST00000475192	[[18448074, 18448212], [18449587, 18449705], [18453485, 18453655]]	None
ENST00000489753	[[18448091, 18448212], [18453485, 18453553], [18454034, 18454102], [18455718, 18455831], [18460681, 18460825], [18461045, 18461153], [18464124, 18464207]]	None
NM_006466	[[18448032, 18448212], [18449587, 18449705], [18453485, 18453553], [18454034, 18454102], [18455718, 18455831], [18460681, 18460825], [18461045, 18461153], [18462262, 18462454], [18464124, 18465292]]	[[18448150, 18448212], [18449587, 18449705], [18453485, 18453553], [18454034, 18454102], [18455718, 18455831], [18460681, 18460825], [18461045, 18461153], [18462262, 18462454], [18464124, 18464202]]
NR_104209	[[18448032, 18448212], [18449587, 18449705], [18451947, 18452009], [18453485, 18453553], [18454034, 18454102], [18455718, 18455831], [18460681, 18460825], [18461045, 18461153], [18462266, 18462454], [18464124, 18465292]]	None
NM_001282526	[[18448032, 18448315], [18449587, 18449705], [18453485, 18453553], [18454034, 18454102], [18455718, 18455831], [18460681, 18460825], [18461045, 18461153], [18462262, 18462454], [18464124, 18465292]]	[[18449648, 18449705], [18453485, 18453553], [18454034, 18454102], [18455718, 18455831], [18460681, 18460825], [18461045, 18461153], [18462262, 18462454], [18464124, 18464202]]

Promoter

Chrom	Start	End	Description
chr20	18448026	18448089	CAGE_peak_1_at_POLR3F_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I018287	18287388	18289809	2.06	[{'connected_gene': 'ZNF133', 'score': 550.77}, {'connected_gene': 'ENSG00000237259', 'score': 12.1}, {'connected_gene': 'POLR3F', 'score': 10.38}, {'connected_gene': 'DZANK1', 'score': 10.38}, {'connected_gene': 'GCNT1P1', 'score': 7.92}, {'connected_gene': 'RN7SKP74', 'score': 0.44}, {'connected_gene': 'GC20M018295', 'score': 0.44}]
chr20	GH20I018585	18585127	18585749	1.1	[{'connected_gene': 'ZNF133', 'score': 14.7}, {'connected_gene': 'LOC100270804', 'score': 13.62}, {'connected_gene': 'POLR3F', 'score': 11.99}, {'connected_gene': 'LOC100286962', 'score': 11.02}, {'connected_gene': 'DZANK1', 'score': 10.75}, {'connected_gene': 'LINC00652', 'score': 10.73}, {'connected_gene': 'DTD1', 'score': 2.17}, {'connected_gene': 'SEC23B', 'score': 1.49}, {'connected_gene': 'RN7SL638P', 'score': 0.44}]
chr20	GH20I018412	18412001	18413926	0.95	[{'connected_gene': 'DZANK1', 'score': 22.22}, {'connected_gene': 'POLR3F', 'score': 11.71}, {'connected_gene': 'LINC00851', 'score': 11.24}, {'connected_gene': 'SMIM26', 'score': 8.43}, {'connected_gene': 'GCNT1P1', 'score': 5.86}]
chr20	GH20I018566	18566519	18568600	1.57	[{'connected_gene': 'SMIM26', 'score': 563.74}, {'connected_gene': 'DTD1', 'score': 562.31}, {'connected_gene': 'SEC23B', 'score': 21.56}, {'connected_gene': 'RBBP9', 'score': 13.2}, {'connected_gene': 'POLR3F', 'score': 10.73}, {'connected_gene': 'DZANK1', 'score': 10.73}, {'connected_gene': 'RN7SL638P', 'score': 0.34}]
chr20	GH20I017566	17566971	17573517	2.24	[{'connected_gene': 'DSTN', 'score': 567.86}, {'connected_gene': 'BFSP1', 'score': 550.77}, {'connected_gene': 'RRBP1', 'score': 18.08}, {'connected_gene': 'ZNF133', 'score': 11.77}, {'connected_gene': 'POLR3F', 'score': 10.95}, {'connected_gene': 'BANF2', 'score': 10.23}, {'connected_gene': 'RN7SKP69', 'score': 0.44}, {'connected_gene': 'GC20M017577', 'score': 0.44}]
chr20	GH20I017536	17536621	17537525	1.33	[{'connected_gene': 'DSTN', 'score': 12.47}, {'connected_gene': 'BFSP1', 'score': 12.47}, {'connected_gene': 'RRBP1', 'score': 10.71}, {'connected_gene': 'POLR3F', 'score': 10.36}, {'connected_gene': 'BANF2', 'score': 10.18}, {'connected_gene': 'GC20P017516', 'score': 0.34}, {'connected_gene': 'ENSG00000277373', 'score': 0.31}]
chr20	GH20I017593	17593526	17595660	1.13	[{'connected_gene': 'DSTN', 'score': 23.89}, {'connected_gene': 'POLR3F', 'score': 14.39}, {'connected_gene': 'BFSP1', 'score': 12.27}, {'connected_gene': 'ZNF133', 'score': 10.69}, {'connected_gene': 'RRBP1', 'score': 9.94}, {'connected_gene': 'LOC100286962', 'score': 0.44}, {'connected_gene': 'RN7SKP69', 'score': 0.37}, {'connected_gene': 'GC20M017577', 'score': 0.37}]
chr20	GH20I018295	18295449	18295803	0.3	[{'connected_gene': 'RN7SKP74', 'score': 550.77}, {'connected_gene': 'GC20M018295', 'score': 550.77}, {'connected_gene': 'POLR3F', 'score': 10.38}, {'connected_gene': 'DZANK1', 'score': 10.38}, {'connected_gene': 'ZNF133', 'score': 0.44}, {'connected_gene': 'ENSG00000237259', 'score': 0.37}]
chr20	GH20I018436	18436601	18437000	0.56	[{'connected_gene': 'POLR3F', 'score': 12.47}, {'connected_gene': 'DZANK1', 'score': 12.47}, {'connected_gene': 'SMIM26', 'score': 8.61}, {'connected_gene': 'RNA5SP476', 'score': 0.77}]
chr20	GH20I018388	18388857	18389313	0.79	[{'connected_gene': 'POLR3F', 'score': 10.09}, {'connected_gene': 'DZANK1', 'score': 10.09}, {'connected_gene': 'GCNT1P1', 'score': 6.18}, {'connected_gene': 'LINC00851', 'score': 0.39}]
chr20	GH20I018465	18465596	18468567	2.07	[{'connected_gene': 'POLR3F', 'score': 550.77}, {'connected_gene': 'DZANK1', 'score': 550.77}, {'connected_gene': 'GCNT1P1', 'score': 12.69}, {'connected_gene': 'LINC00652', 'score': 10.7}, {'connected_gene': 'DTD1', 'score': 7.04}, {'connected_gene': 'RNA5SP476', 'score': 0.29}]
chr20	GH20I018527	18527566	18528184	0.2	[{'connected_gene': 'POLR3F', 'score': 11.7}, {'connected_gene': 'DZANK1', 'score': 11.7}, {'connected_gene': 'RBBP9', 'score': 11.43}, {'connected_gene': 'SEC23B', 'score': 0.34}, {'connected_gene': 'GC20P018562', 'score': 0.29}]
chr20	GH20I018428	18428897	18429046	0.84	[{'connected_gene': 'POLR3F', 'score': 11.78}, {'connected_gene': 'DZANK1', 'score': 11.78}, {'connected_gene': 'RBBP9', 'score': 11.68}, {'connected_gene': 'RNA5SP476', 'score': 0.77}, {'connected_gene': 'GCNT1P1', 'score': 0.44}]
chr20	GH20I018430	18430217	18430426	0.74	[{'connected_gene': 'POLR3F', 'score': 12.46}, {'connected_gene': 'DZANK1', 'score': 12.46}, {'connected_gene': 'RNA5SP476', 'score': 0.77}, {'connected_gene': 'GCNT1P1', 'score': 0.44}]
chr20	GH20I018506	18506612	18508804	2.08	[{'connected_gene': 'SEC23B', 'score': 573.31}, {'connected_gene': 'SMIM26', 'score': 12.66}, {'connected_gene': 'LOC100270804', 'score': 11.59}, {'connected_gene': 'POLR3F', 'score': 10.55}, {'connected_gene': 'DZANK1', 'score': 10.55}, {'connected_gene': 'RN7SKP74', 'score': 10.32}, {'connected_gene': 'GC20P018562', 'score': 0.22}]
chr20	GH20I018543	18543760	18544697	0.64	[{'connected_gene': 'SEC23B', 'score': 25.28}, {'connected_gene': 'RBBP9', 'score': 11.38}, {'connected_gene': 'POLR3F', 'score': 10.71}, {'connected_gene': 'DZANK1', 'score': 10.71}, {'connected_gene': 'DTD1', 'score': 7.97}, {'connected_gene': 'GC20P018562', 'score': 0.37}]