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
ENST00000310653	[[73386682, 73389007], [73390698, 73390765], [73418464, 73418558], [73427295, 73427407], [73429829, 73429935], [73431890, 73431944], [73441809, 73441868], [73471610, 73472182]]	[[73388942, 73389007], [73390698, 73390765], [73418464, 73418558], [73427295, 73427407], [73429829, 73429935], [73431890, 73431944], [73441809, 73441868], [73471610, 73471680]]
ENST00000336083	[[73386940, 73389007], [73390698, 73390765], [73418464, 73418558], [73427295, 73427407], [73429657, 73429763], [73431890, 73431944], [73441809, 73441868], [73471610, 73472136]]	[[73388942, 73389007], [73390698, 73390765], [73418464, 73418558], [73427295, 73427407], [73429657, 73429763], [73431890, 73431944], [73441809, 73441868], [73471610, 73471680]]
ENST00000536566	[[73388443, 73389007], [73390698, 73390765], [73418464, 73418558], [73427295, 73427407], [73429829, 73429935], [73431890, 73431944], [73441809, 73441868], [73471092, 73471138]]	[[73388942, 73389007], [73390698, 73390765], [73418464, 73418558], [73427295, 73427407], [73429829, 73429935], [73431890, 73431944], [73441809, 73441839]]
ENST00000541973	[[73388443, 73389007], [73390698, 73390765], [73418464, 73418558], [73427295, 73427407], [73429829, 73429935], [73431890, 73431944], [73441809, 73441868], [73471092, 73471140]]	[[73388942, 73389007], [73390698, 73390765], [73418464, 73418558], [73427295, 73427407], [73429829, 73429935], [73431890, 73431944], [73441809, 73441868], [73471092, 73471140]]
ENST00000541588	[[73388938, 73389007], [73390698, 73390765], [73431890, 73431944], [73441809, 73441868], [73471610, 73472119]]	[[73388942, 73389007], [73390698, 73390765], [73431890, 73431944], [73441809, 73441868], [73471610, 73471680]]
ENST00000545625	[[73388952, 73389007], [73418464, 73418558], [73427295, 73427407], [73431890, 73431944], [73441809, 73441868], [73471610, 73471683]]	[[73427326, 73427407], [73431890, 73431944], [73441809, 73441868], [73471610, 73471680]]
ENST00000540771	[[73388988, 73389007], [73390698, 73390765], [73441809, 73441868], [73471610, 73472164]]	[[73388988, 73389007], [73390698, 73390765], [73441809, 73441868], [73471610, 73471680]]
ENST00000537446	[[73390730, 73390765], [73418464, 73418558], [73427295, 73427407], [73431890, 73431944], [73441809, 73441868], [73471610, 73471703]]	[[73427326, 73427407], [73431890, 73431944], [73441809, 73441868], [73471610, 73471680]]
ENST00000400470	[[73415208, 73415260], [73418464, 73418558], [73427295, 73427407], [73429657, 73429763], [73431890, 73431944], [73441809, 73441868], [73471610, 73471655]]	[[73415208, 73415260], [73418464, 73418558], [73427295, 73427407], [73429657, 73429763], [73431890, 73431944], [73441809, 73441868], [73471610, 73471655]]
ENST00000541795	[[73440508, 73441868], [73471610, 73472062]]	None
NM_001243719	[[73386682, 73389007], [73390698, 73390765], [73418464, 73418558], [73427295, 73427407], [73429829, 73429935], [73431890, 73431944], [73441809, 73441868], [73471092, 73471138]]	[[73388942, 73389007], [73390698, 73390765], [73418464, 73418558], [73427295, 73427407], [73429829, 73429935], [73431890, 73431944], [73441809, 73441839]]
NM_002869	[[73386682, 73389007], [73390698, 73390765], [73418464, 73418558], [73427295, 73427407], [73429829, 73429935], [73431890, 73431944], [73441809, 73441868], [73471610, 73472201]]	[[73388942, 73389007], [73390698, 73390765], [73418464, 73418558], [73427295, 73427407], [73429829, 73429935], [73431890, 73431944], [73441809, 73441868], [73471610, 73471680]]
NM_198896	[[73386682, 73389007], [73390698, 73390765], [73418464, 73418558], [73427295, 73427407], [73429657, 73429763], [73431890, 73431944], [73441809, 73441868], [73471610, 73472201]]	[[73388942, 73389007], [73390698, 73390765], [73418464, 73418558], [73427295, 73427407], [73429657, 73429763], [73431890, 73431944], [73441809, 73441868], [73471610, 73471680]]
NM_001243718	[[73386682, 73389007], [73390698, 73390765], [73431890, 73431944], [73441809, 73441868], [73471610, 73472201]]	[[73388942, 73389007], [73390698, 73390765], [73431890, 73431944], [73441809, 73441868], [73471610, 73471680]]

Promoter

Chrom	Start	End	Description
chr11	73388527	73388572	CAGE_peak_6_at_RAB6A_5end
chr11	73388773	73388807	CAGE_peak_5_at_RAB6A_5end
chr11	73388844	73388869	CAGE_peak_8_at_RAB6A_5end
chr11	73388901	73388915	CAGE_peak_7_at_RAB6A_5end
chr11	73388939	73388961	CAGE_peak_2_at_RAB6A_5end
chr11	73471699	73471767	CAGE_peak_4_at_RAB6A_5end
chr11	73472079	73472088	CAGE_peak_3_at_RAB6A_5end
chr11	73472096	73472204	CAGE_peak_1_at_RAB6A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I073375	73375301	73390293	2.62	[{'connected_gene': 'RELT', 'score': 562.44}, {'connected_gene': 'ENSG00000206913', 'score': 50.94}, {'connected_gene': 'C2CD3', 'score': 29.55}, {'connected_gene': 'ARPC3P4', 'score': 29.47}, {'connected_gene': 'ARHGEF17', 'score': 15.87}, {'connected_gene': 'ENSG00000256448', 'score': 13.6}, {'connected_gene': 'P4HA3', 'score': 9.96}, {'connected_gene': 'FAM168A', 'score': 6.42}, {'connected_gene': 'PAAF1', 'score': 6.17}, {'connected_gene': 'RAB6A', 'score': 4.35}, {'connected_gene': 'FCHSD2', 'score': 2.94}, {'connected_gene': 'P2RY2', 'score': 1.71}, {'connected_gene': 'ENSG00000256928', 'score': 0.39}, {'connected_gene': 'GC11P073353', 'score': 0.31}]
chr11	GH11I073880	73880596	73880745	0.67	[{'connected_gene': 'PAAF1', 'score': 14.82}, {'connected_gene': 'RAB6A', 'score': 10.34}, {'connected_gene': 'ENSG00000256034', 'score': 10.33}, {'connected_gene': 'ENSG00000255847', 'score': 10.28}, {'connected_gene': 'MRPL48', 'score': 10.18}, {'connected_gene': 'ENSG00000255928', 'score': 9.26}, {'connected_gene': 'COA4', 'score': 0.77}, {'connected_gene': 'PIR59200', 'score': 0.37}, {'connected_gene': 'GC11P073901', 'score': 0.37}]
chr11	GH11I073783	73783145	73785606	1.18	[{'connected_gene': 'RAB6A', 'score': 11.66}, {'connected_gene': 'UCP2', 'score': 5.0}, {'connected_gene': 'MRPL48', 'score': 0.77}]
chr11	GH11I073757	73757396	73762012	2.07	[{'connected_gene': 'RAB6A', 'score': 550.77}, {'connected_gene': 'ENSG00000256034', 'score': 550.77}, {'connected_gene': 'MRPL48', 'score': 30.45}, {'connected_gene': 'POLD3', 'score': 18.01}, {'connected_gene': 'ENSG00000206913', 'score': 13.5}, {'connected_gene': 'ENSG00000255928', 'score': 10.51}, {'connected_gene': 'PAAF1', 'score': 10.38}, {'connected_gene': 'COA4', 'score': 10.38}, {'connected_gene': 'RNF169', 'score': 9.85}, {'connected_gene': 'PLEKHB1', 'score': 9.17}, {'connected_gene': 'GC11P073724', 'score': 0.28}]
chr11	GH11I073797	73797133	73798081	0.2	[{'connected_gene': 'RAB6A', 'score': 22.72}, {'connected_gene': 'ENSG00000256034', 'score': 11.53}, {'connected_gene': 'ENSG00000255928', 'score': 10.7}, {'connected_gene': 'MRPL48', 'score': 6.05}, {'connected_gene': 'GC11M073833', 'score': 0.28}, {'connected_gene': 'RN7SKP243', 'score': 0.28}]
chr11	GH11I073796	73796036	73796165	0.31	[{'connected_gene': 'RAB6A', 'score': 11.55}, {'connected_gene': 'ENSG00000256034', 'score': 11.53}, {'connected_gene': 'MRPL48', 'score': 0.44}, {'connected_gene': 'GC11M073833', 'score': 0.28}, {'connected_gene': 'RN7SKP243', 'score': 0.28}]
chr11	GH11I073778	73778610	73781341	1.62	[{'connected_gene': 'MRPL48', 'score': 17.28}, {'connected_gene': 'RAB6A', 'score': 11.77}, {'connected_gene': 'UCP2', 'score': 6.07}, {'connected_gene': 'FAM168A', 'score': 4.74}]
chr11	GH11I073856	73856176	73856325	0.31	[{'connected_gene': 'MRPL48', 'score': 10.6}, {'connected_gene': 'RAB6A', 'score': 10.48}, {'connected_gene': 'ENSG00000256034', 'score': 10.48}, {'connected_gene': 'UCP2', 'score': 6.98}, {'connected_gene': 'CCDC58P5', 'score': 0.44}, {'connected_gene': 'PAAF1', 'score': 0.34}]
chr11	GH11I073866	73866051	73870887	0.93	[{'connected_gene': 'MRPL48', 'score': 22.91}, {'connected_gene': 'RAB6A', 'score': 14.49}, {'connected_gene': 'ENSG00000256034', 'score': 10.45}, {'connected_gene': 'ENSG00000255928', 'score': 9.72}, {'connected_gene': 'PLEKHB1', 'score': 9.22}, {'connected_gene': 'PAAF1', 'score': 0.44}, {'connected_gene': 'CCDC58P5', 'score': 0.37}]
chr11	GH11I073838	73838120	73839145	0.43	[{'connected_gene': 'MRPL48', 'score': 18.16}, {'connected_gene': 'RAB6A', 'score': 8.19}, {'connected_gene': 'PLEKHB1', 'score': 1.48}, {'connected_gene': 'GC11M073833', 'score': 0.44}, {'connected_gene': 'RN7SKP243', 'score': 0.44}, {'connected_gene': 'CCDC58P5', 'score': 0.39}]
chr11	GH11I073752	73752110	73754795	0.74	[{'connected_gene': 'MRPL48', 'score': 23.39}, {'connected_gene': 'ENSG00000255928', 'score': 11.89}, {'connected_gene': 'PLEKHB1', 'score': 7.87}, {'connected_gene': 'RAB6A', 'score': 0.44}, {'connected_gene': 'ENSG00000256034', 'score': 0.44}, {'connected_gene': 'GC11P073724', 'score': 0.31}]
chr11	GH11I073749	73749404	73751796	0.77	[{'connected_gene': 'MRPL48', 'score': 28.43}, {'connected_gene': 'ENSG00000255928', 'score': 11.91}, {'connected_gene': 'PLEKHB1', 'score': 10.3}, {'connected_gene': 'RAB6A', 'score': 8.45}, {'connected_gene': 'ENSG00000256034', 'score': 0.44}, {'connected_gene': 'GC11P073724', 'score': 0.31}]
chr11	GH11I073911	73911135	73912852	0.31	[{'connected_gene': 'MRPL48', 'score': 20.73}, {'connected_gene': 'DNAJB13', 'score': 11.74}, {'connected_gene': 'PAAF1', 'score': 11.5}, {'connected_gene': 'COA4', 'score': 11.5}, {'connected_gene': 'RAB6A', 'score': 10.34}, {'connected_gene': 'ENSG00000256034', 'score': 10.34}, {'connected_gene': 'ENSG00000255928', 'score': 10.06}, {'connected_gene': 'PLEKHB1', 'score': 8.09}, {'connected_gene': 'PIR59200', 'score': 0.39}, {'connected_gene': 'ARPC3P4', 'score': 0.39}, {'connected_gene': 'GC11P073901', 'score': 0.39}]
chr11	GH11I073786	73786738	73789983	2.14	[{'connected_gene': 'MRPL48', 'score': 568.12}, {'connected_gene': 'POLD3', 'score': 58.83}, {'connected_gene': 'ENSG00000206913', 'score': 43.22}, {'connected_gene': 'RNF169', 'score': 29.89}, {'connected_gene': 'ARPC3P4', 'score': 25.4}, {'connected_gene': 'RAB6A', 'score': 22.67}, {'connected_gene': 'C2CD3', 'score': 20.55}, {'connected_gene': 'P4HA3', 'score': 12.73}, {'connected_gene': 'ENSG00000256034', 'score': 11.57}, {'connected_gene': 'ENSG00000254837', 'score': 10.7}, {'connected_gene': 'PLEKHB1', 'score': 8.09}, {'connected_gene': 'GC11M073833', 'score': 0.26}, {'connected_gene': 'RN7SKP243', 'score': 0.26}]
chr11	GH11I073851	73851196	73851669	0.69	[{'connected_gene': 'CCDC58P5', 'score': 550.77}, {'connected_gene': 'PAAF1', 'score': 11.77}, {'connected_gene': 'COA4', 'score': 11.77}, {'connected_gene': 'MRPL48', 'score': 10.44}, {'connected_gene': 'RAB6A', 'score': 10.37}, {'connected_gene': 'ENSG00000256034', 'score': 10.37}, {'connected_gene': 'ENSG00000255928', 'score': 10.3}]
chr11	GH11I073716	73716276	73716425	0.69	[{'connected_gene': 'GC11P073716', 'score': 550.77}, {'connected_gene': 'MRPL48', 'score': 10.28}, {'connected_gene': 'PIR54387', 'score': 0.44}, {'connected_gene': 'RAB6A', 'score': 0.26}]