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
ENST00000447007	[[150254952, 150255028], [150255923, 150256043], [150256214, 150256290], [150256835, 150256914], [150257006, 150257118], [150258841, 150259149]]	[[150255941, 150256043], [150256214, 150256290], [150256835, 150256914], [150257006, 150257118], [150258841, 150259149]]
ENST00000369094	[[150254952, 150255028], [150255871, 150256043], [150256214, 150256290], [150256835, 150256914], [150257006, 150257118], [150258841, 150259505]]	[[150255941, 150256043], [150256214, 150256290], [150256835, 150256914], [150257006, 150257118], [150258841, 150259366]]
ENST00000369095	[[150254952, 150255028], [150255617, 150256043], [150256214, 150256290], [150256835, 150256914], [150257006, 150257118], [150258841, 150259505]]	[[150255677, 150256043], [150256214, 150256290], [150256835, 150256914], [150257006, 150257118], [150258841, 150259366]]
ENST00000417398	[[150255181, 150255233], [150255871, 150256043], [150256214, 150256290], [150256835, 150256914], [150257006, 150257118], [150258841, 150259188]]	[[150255941, 150256043], [150256214, 150256290], [150256835, 150256914], [150257006, 150257118], [150258841, 150259188]]
ENST00000290363	[[150255228, 150256043], [150256214, 150256290], [150256835, 150256914], [150257006, 150257118], [150258841, 150259505]]	[[150255677, 150256043], [150256214, 150256290], [150256835, 150256914], [150257006, 150257118], [150258841, 150259366]]
ENST00000469255	[[150255258, 150256043], [150256835, 150256914], [150257006, 150257945]]	None
ENST00000497211	[[150255943, 150256043], [150256835, 150256914], [150257006, 150257118], [150258841, 150259045]]	None
NM_001300840	[[150254942, 150255028], [150255923, 150256043], [150256214, 150256290], [150256835, 150256914], [150257006, 150257118], [150258841, 150259505]]	[[150255941, 150256043], [150256214, 150256290], [150256835, 150256914], [150257006, 150257118], [150258841, 150259366]]
NM_001300839	[[150254942, 150255028], [150255871, 150256043], [150256214, 150256290], [150256835, 150256914], [150257006, 150257118], [150258841, 150259505]]	[[150255941, 150256043], [150256214, 150256290], [150256835, 150256914], [150257006, 150257118], [150258841, 150259366]]
NM_001300838	[[150254942, 150255028], [150255617, 150256043], [150256214, 150256290], [150256835, 150256914], [150257006, 150257118], [150258841, 150259505]]	[[150255677, 150256043], [150256214, 150256290], [150256835, 150256914], [150257006, 150257118], [150258841, 150259366]]
NM_144697	[[150254942, 150256043], [150256214, 150256290], [150256835, 150256914], [150257006, 150257118], [150258841, 150259505]]	[[150255677, 150256043], [150256214, 150256290], [150256835, 150256914], [150257006, 150257118], [150258841, 150259366]]
NM_001300841	[[150255131, 150255233], [150255871, 150256043], [150256214, 150256290], [150256835, 150256914], [150257006, 150257118], [150258841, 150259505]]	[[150255941, 150256043], [150256214, 150256290], [150256835, 150256914], [150257006, 150257118], [150258841, 150259366]]

Promoter

Chrom	Start	End	Description
chr1	150254936	150255001	CAGE_peak_1_at_C1orf51_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I150464	150464445	150464614	0.72	[{'connected_gene': 'TARS2', 'score': 12.62}, {'connected_gene': 'ECM1', 'score': 12.55}, {'connected_gene': 'ADAMTSL4', 'score': 11.57}, {'connected_gene': 'LOC100289061', 'score': 11.55}, {'connected_gene': 'ADAMTSL4-AS1', 'score': 11.53}, {'connected_gene': 'CA14', 'score': 10.43}, {'connected_gene': 'CIART', 'score': 10.4}, {'connected_gene': 'CTSK', 'score': 9.59}, {'connected_gene': 'UBE2D3P3', 'score': 9.52}, {'connected_gene': 'GC01P150425', 'score': 0.28}, {'connected_gene': 'RPRD2', 'score': 0.15}]
chr1	GH01I150271	150271669	150274000	1.52	[{'connected_gene': 'C1orf54', 'score': 561.53}, {'connected_gene': 'SEMA6C', 'score': 6.86}, {'connected_gene': 'MRPS21', 'score': 5.1}, {'connected_gene': 'APH1A', 'score': 0.77}, {'connected_gene': 'CIART', 'score': 0.44}]
chr1	GH01I150177	150177483	150178790	0.71	[{'connected_gene': 'PLEKHO1', 'score': 12.14}, {'connected_gene': 'HIST2H2AC', 'score': 10.6}, {'connected_gene': 'HIST2H2BE', 'score': 10.6}, {'connected_gene': 'BOLA1', 'score': 10.6}, {'connected_gene': 'CIART', 'score': 10.16}, {'connected_gene': 'LOC105371433', 'score': 0.37}, {'connected_gene': 'GC01P150213', 'score': 0.29}]
chr1	GH01I150191	150191185	150193282	0.77	[{'connected_gene': 'PLEKHO1', 'score': 11.33}, {'connected_gene': 'VPS45', 'score': 10.97}, {'connected_gene': 'MTMR11', 'score': 10.79}, {'connected_gene': 'HIST2H2AC', 'score': 10.78}, {'connected_gene': 'HIST2H2BE', 'score': 10.78}, {'connected_gene': 'BOLA1', 'score': 10.78}, {'connected_gene': 'SF3B4', 'score': 10.59}, {'connected_gene': 'C1orf54', 'score': 10.42}, {'connected_gene': 'APH1A', 'score': 10.42}, {'connected_gene': 'CA14', 'score': 10.32}, {'connected_gene': 'CIART', 'score': 10.05}, {'connected_gene': 'TARS2', 'score': 8.66}, {'connected_gene': 'GC01P150213', 'score': 0.37}, {'connected_gene': 'LOC105371433', 'score': 0.29}]
chr1	GH01I150176	150176801	150177400	0.63	[{'connected_gene': 'PLEKHO1', 'score': 19.13}, {'connected_gene': 'MTMR11', 'score': 10.68}, {'connected_gene': 'BOLA1', 'score': 10.61}, {'connected_gene': 'HIST2H2AC', 'score': 10.6}, {'connected_gene': 'HIST2H2BE', 'score': 10.6}, {'connected_gene': 'CIART', 'score': 10.15}, {'connected_gene': 'LOC105371433', 'score': 0.37}, {'connected_gene': 'GC01P150213', 'score': 0.29}]
chr1	GH01I150280	150280410	150283719	1.97	[{'connected_gene': 'CIART', 'score': 550.77}, {'connected_gene': 'PRPF3', 'score': 34.37}, {'connected_gene': 'SETDB1', 'score': 31.61}, {'connected_gene': 'ARNT', 'score': 28.99}, {'connected_gene': 'PIP5K1A', 'score': 24.55}, {'connected_gene': 'UBE2D3P3', 'score': 23.33}, {'connected_gene': 'GABPB2', 'score': 22.37}, {'connected_gene': 'SF3B4', 'score': 13.42}, {'connected_gene': 'GOLPH3L', 'score': 13.16}, {'connected_gene': 'ADAMTSL4', 'score': 12.18}, {'connected_gene': 'CTSK', 'score': 12.04}, {'connected_gene': 'ZNF687', 'score': 11.53}, {'connected_gene': 'RPRD2', 'score': 11.11}, {'connected_gene': 'HIST2H2AB', 'score': 10.79}, {'connected_gene': 'HIST2H2BD', 'score': 10.25}, {'connected_gene': 'PRUNE1', 'score': 10.09}, {'connected_gene': 'TARS2', 'score': 5.38}, {'connected_gene': 'ENSG00000261168', 'score': 4.38}, {'connected_gene': 'C1orf54', 'score': 0.39}, {'connected_gene': 'APH1A', 'score': 0.39}]
chr1	GH01I151171	151171785	151172728	0.49	[{'connected_gene': 'CIART', 'score': 5.14}, {'connected_gene': 'TMOD4', 'score': 0.77}, {'connected_gene': 'GC01M151175', 'score': 0.77}, {'connected_gene': 'LYSMD1', 'score': 0.44}, {'connected_gene': 'VPS72', 'score': 0.34}]
chr1	GH01I150249	150249678	150250576	0.31	[{'connected_gene': 'CIART', 'score': 11.87}, {'connected_gene': 'RPRD2', 'score': 10.28}, {'connected_gene': 'CA14', 'score': 0.44}, {'connected_gene': 'RNU2-17P', 'score': 0.39}]
chr1	GH01I150386	150386414	150388314	0.82	[{'connected_gene': 'CIART', 'score': 10.4}, {'connected_gene': 'ECM1', 'score': 9.37}, {'connected_gene': 'ADAMTSL4', 'score': 8.09}, {'connected_gene': 'SEMA6C', 'score': 7.29}, {'connected_gene': 'GC01M150369', 'score': 0.39}, {'connected_gene': 'RPRD2', 'score': 0.34}, {'connected_gene': 'GC01P150425', 'score': 0.28}]
chr1	GH01I150213	150213082	150214600	1.42	[{'connected_gene': 'GC01P150215', 'score': 550.77}, {'connected_gene': 'GC01P150214', 'score': 550.77}, {'connected_gene': 'SETDB1', 'score': 19.24}, {'connected_gene': 'SF3B4', 'score': 17.92}, {'connected_gene': 'ANP32E', 'score': 16.41}, {'connected_gene': 'PIP5K1A', 'score': 15.81}, {'connected_gene': 'PRPF3', 'score': 15.57}, {'connected_gene': 'RNU2-17P', 'score': 13.78}, {'connected_gene': 'ARNT', 'score': 12.82}, {'connected_gene': 'HIST2H2AB', 'score': 12.77}, {'connected_gene': 'UBE2D3P3', 'score': 11.81}, {'connected_gene': 'CIART', 'score': 11.6}, {'connected_gene': 'CA14', 'score': 11.46}, {'connected_gene': 'C1orf54', 'score': 10.84}, {'connected_gene': 'APH1A', 'score': 10.83}, {'connected_gene': 'PLEKHO1', 'score': 10.8}, {'connected_gene': 'MTMR11', 'score': 10.46}, {'connected_gene': 'HIST2H2BC', 'score': 9.99}, {'connected_gene': 'TARS2', 'score': 8.01}, {'connected_gene': 'RPRD2', 'score': 6.4}, {'connected_gene': 'MRPS21', 'score': 5.42}, {'connected_gene': 'GOLPH3L', 'score': 4.36}, {'connected_gene': 'HIST2H2AC', 'score': 1.94}, {'connected_gene': 'VPS45', 'score': 1.24}, {'connected_gene': 'RN7SL480P', 'score': 0.77}]