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
chr4	175443138	175443164	CAGE_peak_5_at_HPGD_5end
chr4	175443274	175443286	CAGE_peak_7_at_HPGD_5end
chr4	175443630	175443646	CAGE_peak_1_at_HPGD_5end
chr4	175443788	175443795	CAGE_peak_2_at_HPGD_5end
chr4	175443943	175443956	CAGE_peak_3_at_HPGD_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I174603	174603914	174604798	0.99	[{'connected_gene': 'HPGD', 'score': 6.81}, {'connected_gene': 'CEP44', 'score': 1.27}, {'connected_gene': 'LOC105377549', 'score': 0.44}, {'connected_gene': 'LOC100419741', 'score': 0.21}]
chr4	GH04I174382	174382766	174384405	0.85	[{'connected_gene': 'HPGD', 'score': 10.41}, {'connected_gene': 'CEP44', 'score': 6.43}, {'connected_gene': 'ENSG00000249875', 'score': 0.44}, {'connected_gene': 'LOC105377547', 'score': 0.31}, {'connected_gene': 'MIR4276', 'score': 0.26}]
chr4	GH04I174681	174681233	174682480	1.17	[{'connected_gene': 'HPGD', 'score': 3.89}, {'connected_gene': 'GC04P174661', 'score': 0.34}, {'connected_gene': 'GC04M174697', 'score': 0.21}, {'connected_gene': 'GLRA3', 'score': 0.11}]
chr4	GH04I174626	174626303	174627367	0.2	[{'connected_gene': 'HPGD', 'score': 20.56}, {'connected_gene': 'LOC105377551', 'score': 0.77}, {'connected_gene': 'LOC105377549', 'score': 0.37}, {'connected_gene': 'GLRA3', 'score': 0.08}]
chr4	GH04I174582	174582877	174583122	0.22	[{'connected_gene': 'HPGD', 'score': 51.99}, {'connected_gene': 'LOC105377549', 'score': 0.31}, {'connected_gene': 'LOC100419741', 'score': 0.26}]
chr4	GH04I174594	174594907	174596217	0.43	[{'connected_gene': 'HPGD', 'score': 11.5}, {'connected_gene': 'LOC105377549', 'score': 0.39}, {'connected_gene': 'LOC100419741', 'score': 0.22}]
chr4	GH04I174580	174580626	174580966	0.58	[{'connected_gene': 'HPGD', 'score': 48.01}, {'connected_gene': 'LOC105377549', 'score': 0.31}, {'connected_gene': 'LOC100419741', 'score': 0.26}]
chr4	GH04I174591	174591201	174592199	0.77	[{'connected_gene': 'HPGD', 'score': 24.24}, {'connected_gene': 'LOC105377549', 'score': 0.37}, {'connected_gene': 'LOC100419741', 'score': 0.23}]
chr4	GH04I174596	174596597	174597319	0.31	[{'connected_gene': 'HPGD', 'score': 12.88}, {'connected_gene': 'LOC105377549', 'score': 0.39}, {'connected_gene': 'LOC100419741', 'score': 0.22}]
chr4	GH04I174592	174592801	174593401	0.63	[{'connected_gene': 'HPGD', 'score': 11.51}, {'connected_gene': 'LOC105377549', 'score': 0.37}, {'connected_gene': 'LOC100419741', 'score': 0.23}]
chr4	GH04I174519	174519716	174519784	0.26	[{'connected_gene': 'HPGD', 'score': 19.98}, {'connected_gene': 'MIR4276', 'score': 0.15}]
chr4	GH04I174461	174461777	174462519	0.76	[{'connected_gene': 'HPGD', 'score': 10.18}, {'connected_gene': 'MIR4276', 'score': 0.28}]
chr4	GH04I174502	174502729	174504560	0.31	[{'connected_gene': 'HPGD', 'score': 0.37}, {'connected_gene': 'MIR4276', 'score': 0.18}]
chr4	GH04I174481	174481690	174481882	0.22	[{'connected_gene': 'HPGD', 'score': 0.26}, {'connected_gene': 'MIR4276', 'score': 0.22}]
chr4	GH04I174556	174556310	174556459	0.6	[{'connected_gene': 'HPGD', 'score': 10.83}, {'connected_gene': 'LOC100419741', 'score': 0.37}, {'connected_gene': 'LOC105377549', 'score': 0.23}]
chr4	GH04I174553	174553950	174554099	0.2	[{'connected_gene': 'HPGD', 'score': 10.77}, {'connected_gene': 'LOC100419741', 'score': 0.39}, {'connected_gene': 'LOC105377549', 'score': 0.22}]
chr4	GH04I174569	174569380	174569624	0.23	[{'connected_gene': 'HPGD', 'score': 32.04}, {'connected_gene': 'LOC100419741', 'score': 0.31}, {'connected_gene': 'LOC105377549', 'score': 0.26}]
chr4	GH04I174521	174521156	174525041	1.9	[{'connected_gene': 'HPGD', 'score': 558.99}, {'connected_gene': 'LOC100419741', 'score': 50.69}, {'connected_gene': 'MIR4276', 'score': 0.15}]
chr4	GH04I174495	174495500	174500134	0.43	[{'connected_gene': 'HPGD', 'score': 17.72}, {'connected_gene': 'LOC100419741', 'score': 5.61}, {'connected_gene': 'MIR4276', 'score': 0.19}]
chr4	GH04I174559	174559121	174561416	0.2	[{'connected_gene': 'LOC105377548', 'score': 10.56}, {'connected_gene': 'CEP44', 'score': 9.24}, {'connected_gene': 'FBXO8', 'score': 9.24}, {'connected_gene': 'HPGD', 'score': 7.96}, {'connected_gene': 'LOC100419741', 'score': 0.37}, {'connected_gene': 'LOC105377549', 'score': 0.25}]
chr4	GH04I174535	174535150	174535299	0.2	[{'connected_gene': 'LOC105377548', 'score': 550.77}, {'connected_gene': 'LOC100419741', 'score': 0.44}, {'connected_gene': 'HPGD', 'score': 0.39}]
chr4	GH04I174540	174540310	174540459	0.31	[{'connected_gene': 'LOC100419741', 'score': 550.77}, {'connected_gene': 'HPGD', 'score': 6.61}, {'connected_gene': 'LOC105377548', 'score': 0.77}, {'connected_gene': 'LOC105377549', 'score': 0.2}]
chr4	GH04I174537	174537878	174540259	0.85	[{'connected_gene': 'LOC100419741', 'score': 562.34}, {'connected_gene': 'HPGD', 'score': 6.14}, {'connected_gene': 'LOC105377548', 'score': 0.77}]
chr4	GH04I174460	174460790	174460939	0.43	[{'connected_gene': 'LOC100419741', 'score': 4.86}, {'connected_gene': 'MIR4276', 'score': 0.28}, {'connected_gene': 'HPGD', 'score': 0.21}]
chr4	GH04I174437	174437310	174438036	0.6	[{'connected_gene': 'LOC100419741', 'score': 7.12}, {'connected_gene': 'MIR4276', 'score': 0.39}, {'connected_gene': 'HPGD', 'score': 0.17}]
chr4	GH04I174662	174662614	174662852	0.39	[{'connected_gene': 'GC04P174661', 'score': 550.77}, {'connected_gene': 'HPGD', 'score': 1.54}, {'connected_gene': 'GC04M174697', 'score': 0.18}, {'connected_gene': 'GLRA3', 'score': 0.1}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000296522	[[175411327, 175413245], [175414301, 175414465], [175416698, 175416775], [175429846, 175429943], [175439121, 175439228], [175443094, 175443218], [175443509, 175444049]]	[[175413106, 175413245], [175414301, 175414465], [175416698, 175416775], [175429846, 175429943], [175439121, 175439228], [175443094, 175443218], [175443509, 175443602]]
ENST00000510835	[[175412254, 175413245], [175414301, 175414465], [175416698, 175416775], [175429846, 175429943], [175439121, 175439228], [175443509, 175443626]]	[[175439207, 175439228], [175443509, 175443602]]
ENST00000296521	[[175412608, 175413245], [175416698, 175416775], [175429846, 175429943], [175439121, 175439228], [175443094, 175443218], [175443509, 175443638]]	[[175413206, 175413245], [175416698, 175416775], [175429846, 175429943], [175439121, 175439228], [175443094, 175443218], [175443509, 175443602]]
ENST00000510901	[[175412721, 175413245], [175414301, 175414465], [175416698, 175416775], [175429846, 175429943], [175439121, 175439228], [175443094, 175443218], [175443774, 175444216]]	[[175413106, 175413245], [175414301, 175414465], [175416698, 175416775], [175429846, 175429904]]
ENST00000511499	[[175412905, 175413245], [175414301, 175414465], [175416698, 175416980]]	None
ENST00000422112	[[175412935, 175413245], [175414301, 175414465], [175416698, 175416775], [175443094, 175443218], [175443509, 175443639]]	[[175413106, 175413245], [175414301, 175414465], [175416698, 175416775], [175443094, 175443218], [175443509, 175443602]]
ENST00000508330	[[175412944, 175413245], [175414301, 175414465], [175416698, 175416775], [175429846, 175429943], [175443094, 175443218], [175443509, 175443792]]	[[175429896, 175429943], [175443094, 175443218], [175443509, 175443602]]
ENST00000541923	[[175412944, 175413245], [175414301, 175414465], [175416698, 175416775], [175429846, 175429943], [175443094, 175443218], [175443509, 175443792]]	[[175413106, 175413245], [175414301, 175414465], [175416698, 175416775], [175429846, 175429904]]
ENST00000509512	[[175413020, 175413245], [175414301, 175414612]]	None
ENST00000542498	[[175413083, 175413245], [175429846, 175429943], [175439121, 175439228], [175443094, 175443218], [175443509, 175443602]]	[[175413234, 175413245], [175429846, 175429943], [175439121, 175439228], [175443094, 175443218], [175443509, 175443602]]
ENST00000506910	[[175414302, 175414465], [175416698, 175416775], [175429846, 175429943], [175439121, 175439228], [175443094, 175443218], [175443774, 175443882], [175444162, 175444305]]	[[175414302, 175414465], [175416698, 175416775], [175429846, 175429904]]
ENST00000514584	[[175414309, 175414465], [175416698, 175416775], [175429846, 175429943], [175439121, 175439228], [175443094, 175443484]]	[[175414309, 175414465], [175416698, 175416775], [175429846, 175429904]]
ENST00000512410	[[175416511, 175416775], [175429846, 175429943], [175439121, 175439228], [175443094, 175443218], [175443509, 175443583]]	None
ENST00000504433	[[175427893, 175429334], [175429846, 175429943], [175439121, 175439228], [175443094, 175443218], [175443509, 175443650]]	[[175429224, 175429334], [175429846, 175429943], [175439121, 175439228], [175443094, 175443218], [175443509, 175443602]]
NM_001256301	[[175411327, 175413245], [175414301, 175414465], [175416698, 175416775], [175429846, 175429943], [175439121, 175439228], [175443094, 175443218], [175443774, 175444044]]	[[175413106, 175413245], [175414301, 175414465], [175416698, 175416775], [175429846, 175429904]]
NM_000860	[[175411327, 175413245], [175414301, 175414465], [175416698, 175416775], [175429846, 175429943], [175439121, 175439228], [175443094, 175443218], [175443509, 175444049]]	[[175413106, 175413245], [175414301, 175414465], [175416698, 175416775], [175429846, 175429943], [175439121, 175439228], [175443094, 175443218], [175443509, 175443602]]
NM_001145816	[[175411327, 175413245], [175416698, 175416775], [175429846, 175429943], [175439121, 175439228], [175443094, 175443218], [175443509, 175444049]]	[[175413206, 175413245], [175416698, 175416775], [175429846, 175429943], [175439121, 175439228], [175443094, 175443218], [175443509, 175443602]]
NM_001256305	[[175411327, 175413245], [175429846, 175429943], [175439121, 175439228], [175443094, 175443218], [175443509, 175444049]]	[[175413234, 175413245], [175429846, 175429943], [175439121, 175439228], [175443094, 175443218], [175443509, 175443602]]
NM_001256307	[[175411327, 175413245], [175414301, 175414465], [175416698, 175416775], [175429846, 175429943], [175443094, 175443218], [175443509, 175444049]]	[[175413106, 175413245], [175414301, 175414465], [175416698, 175416775], [175429846, 175429904]]
NM_001256306	[[175411327, 175413245], [175414301, 175414465], [175416698, 175416775], [175443094, 175443218], [175443509, 175444049]]	[[175413106, 175413245], [175414301, 175414465], [175416698, 175416775], [175443094, 175443218], [175443509, 175443602]]