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
ENST00000366872	[[223714982, 223715222], [223716469, 223716528], [223717428, 223717545], [223718133, 223718212], [223718592, 223718661], [223722680, 223722745], [223722758, 223722925], [223803474, 223803501], [223803514, 223803562], [223803575, 223803643], [223803656, 223803847], [223806994, 223807155], [223810428, 223810500], [223810516, 223810602], [223813506, 223813590], [223814690, 223814859], [223815710, 223815844], [223816363, 223816482], [223842031, 223842101], [223853111, 223853348]]	[[223715198, 223715222], [223716469, 223716528], [223717428, 223717545], [223718133, 223718212], [223718592, 223718661], [223722680, 223722745], [223722758, 223722925], [223803474, 223803501], [223803514, 223803562], [223803575, 223803643], [223803656, 223803847], [223806994, 223807155], [223810428, 223810500], [223810516, 223810602], [223813506, 223813590], [223814690, 223814859], [223815710, 223815844], [223816363, 223816482], [223842031, 223842101], [223853111, 223853348]]
ENST00000484873	[[223711348, 223711481], [223711740, 223711833], [223712762, 223712841], [223716469, 223716528]]	[[223712838, 223712841], [223716469, 223716528]]
ENST00000442247	[[223711349, 223711481], [223712762, 223712834], [223722680, 223722745], [223724322, 223724380]]	[[223711370, 223711481], [223712762, 223712834], [223722680, 223722745], [223724322, 223724380]]
ENST00000430824	[[223714974, 223715222], [223716469, 223716528], [223717428, 223717545], [223718133, 223718212], [223718592, 223718661], [223722680, 223722745], [223724322, 223724380]]	[[223715198, 223715222], [223716469, 223716528], [223717428, 223717545], [223718133, 223718212], [223718592, 223718661], [223722680, 223722745], [223724322, 223724380]]
ENST00000482401	[[223714978, 223715222], [223716469, 223716528], [223717428, 223717545], [223718133, 223718736]]	None
ENST00000482183	[[223715010, 223715222], [223716469, 223716528], [223717428, 223717632]]	None
ENST00000419193	[[223803671, 223803847], [223806994, 223807155], [223807893, 223807968], [223810516, 223810602], [223813506, 223813590], [223814690, 223814859], [223815710, 223815844], [223816363, 223816482], [223842031, 223842101], [223853111, 223853436]]	[[223803671, 223803847], [223806994, 223807155], [223807893, 223807968], [223810516, 223810602], [223813506, 223813590], [223814690, 223814859], [223815710, 223815844], [223816363, 223816482], [223842031, 223842101], [223853111, 223853348]]
ENST00000366873	[[223804599, 223805983], [223806994, 223807155], [223807893, 223807968], [223810516, 223810602], [223813506, 223813590], [223814690, 223814859], [223815710, 223815844], [223816363, 223816482], [223842031, 223842101], [223853111, 223853425]]	[[223805972, 223805983], [223806994, 223807155], [223807893, 223807968], [223810516, 223810602], [223813506, 223813590], [223814690, 223814859], [223815710, 223815844], [223816363, 223816482], [223842031, 223842101], [223853111, 223853348]]
ENST00000467384	[[223807897, 223807968], [223810516, 223810602], [223813506, 223813590], [223814690, 223814859], [223815710, 223815844], [223816363, 223816482], [223830384, 223830535], [223842031, 223842101]]	[[223830488, 223830535], [223842031, 223842101]]
ENST00000465098	[[223810323, 223810602], [223813506, 223813590], [223814690, 223814859], [223815710, 223815844], [223816363, 223816407]]	[[223810512, 223810602], [223813506, 223813590], [223814690, 223814859], [223815710, 223815844], [223816363, 223816407]]
ENST00000525760	[[223814741, 223814859], [223815710, 223815844], [223816363, 223816672]]	None
NM_001143962	[[223714971, 223715222], [223716469, 223716528], [223717428, 223717545], [223718133, 223718212], [223718592, 223718661], [223722680, 223722745], [223724322, 223724380], [223743112, 223743130], [223799947, 223799959], [223803671, 223803847], [223806994, 223807155], [223807893, 223807968], [223810516, 223810602], [223813506, 223813590], [223814690, 223814859], [223815710, 223815844], [223816363, 223816482], [223842031, 223842101], [223853111, 223853436]]	[[223715198, 223715222], [223716469, 223716528], [223717428, 223717545], [223718133, 223718212], [223718592, 223718661], [223722680, 223722745], [223724322, 223724380], [223743112, 223743130], [223799947, 223799959], [223803671, 223803847], [223806994, 223807155], [223807893, 223807968], [223810516, 223810602], [223813506, 223813590], [223814690, 223814859], [223815710, 223815844], [223816363, 223816482], [223842031, 223842101], [223853111, 223853348]]

Promoter

Chrom	Start	End	Description
chr1	223853431	223853436	CAGE_peak_4_at_CAPN8_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I223746	223746811	223749868	1.25	[{'connected_gene': 'CAPN2', 'score': 28.3}, {'connected_gene': 'CICP5', 'score': 17.13}, {'connected_gene': 'NVL', 'score': 15.36}, {'connected_gene': 'CAPN8', 'score': 11.07}, {'connected_gene': 'LOC100287497', 'score': 10.18}, {'connected_gene': 'LOC105373046', 'score': 0.44}, {'connected_gene': 'LOC105373041', 'score': 0.31}]
chr1	GH01I223698	223698949	223704092	1.83	[{'connected_gene': 'CAPN2', 'score': 563.01}, {'connected_gene': 'CICP5', 'score': 20.27}, {'connected_gene': 'NVL', 'score': 14.66}, {'connected_gene': 'LOC100287497', 'score': 10.2}, {'connected_gene': 'WDR26', 'score': 10.06}, {'connected_gene': 'CAPN8', 'score': 9.44}, {'connected_gene': 'GTF2IP20', 'score': 4.45}, {'connected_gene': 'LOC105373281', 'score': 0.44}, {'connected_gene': 'RNU6-1248P', 'score': 0.39}]
chr1	GH01I223710	223710431	223722216	2.82	[{'connected_gene': 'CAPN2', 'score': 579.21}, {'connected_gene': 'CICP5', 'score': 85.99}, {'connected_gene': 'NVL', 'score': 84.61}, {'connected_gene': 'LOC100287497', 'score': 47.33}, {'connected_gene': 'TP53BP2', 'score': 27.69}, {'connected_gene': 'WDR26', 'score': 27.45}, {'connected_gene': 'CAPN8', 'score': 14.59}, {'connected_gene': 'GTF2IP20', 'score': 12.95}, {'connected_gene': 'FBXO28', 'score': 11.41}, {'connected_gene': 'RNU6-1248P', 'score': 11.06}, {'connected_gene': 'LOC105373281', 'score': 0.44}, {'connected_gene': 'GC01P223725', 'score': 0.44}]
chr1	GH01I223764	223764416	223766496	0.98	[{'connected_gene': 'CAPN2', 'score': 8.6}, {'connected_gene': 'GTF2IP20', 'score': 7.3}, {'connected_gene': 'CAPN8', 'score': 5.47}, {'connected_gene': 'LOC105373041', 'score': 0.44}, {'connected_gene': 'LOC105373046', 'score': 0.31}]
chr1	GH01I223745	223745415	223746587	0.46	[{'connected_gene': 'CAPN2', 'score': 24.0}, {'connected_gene': 'CAPN8', 'score': 11.07}, {'connected_gene': 'LOC105373046', 'score': 0.44}, {'connected_gene': 'LOC105373041', 'score': 0.31}]
chr1	GH01I223735	223735528	223736764	0.31	[{'connected_gene': 'CAPN2', 'score': 8.57}, {'connected_gene': 'CAPN8', 'score': 8.41}, {'connected_gene': 'GC01M223736', 'score': 0.77}, {'connected_gene': 'GC01M223727', 'score': 0.44}]
chr1	GH01I223670	223670559	223670728	0.59	[{'connected_gene': 'CAPN2', 'score': 11.13}, {'connected_gene': 'CAPN8', 'score': 0.77}, {'connected_gene': 'GC01P223691', 'score': 0.37}]
chr1	GH01I223769	223769475	223773465	1.45	[{'connected_gene': 'WDR26', 'score': 30.32}, {'connected_gene': 'CICP5', 'score': 24.37}, {'connected_gene': 'CAPN2', 'score': 19.46}, {'connected_gene': 'NVL', 'score': 12.69}, {'connected_gene': 'LOC100287497', 'score': 11.78}, {'connected_gene': 'CAPN8', 'score': 10.85}, {'connected_gene': 'GTF2IP20', 'score': 10.5}, {'connected_gene': 'TP53BP2', 'score': 7.14}, {'connected_gene': 'LOC105373041', 'score': 0.77}, {'connected_gene': 'LOC105373046', 'score': 0.29}]
chr1	GH01I223831	223831002	223837799	1.6	[{'connected_gene': 'TP53BP2', 'score': 29.85}, {'connected_gene': 'NVL', 'score': 26.99}, {'connected_gene': 'CICP5', 'score': 18.33}, {'connected_gene': 'CAPN2', 'score': 18.22}, {'connected_gene': 'GTF2IP20', 'score': 10.17}, {'connected_gene': 'LOC100287497', 'score': 10.1}, {'connected_gene': 'CAPN8', 'score': 8.73}, {'connected_gene': 'FBXO28', 'score': 2.04}, {'connected_gene': 'GC01M223821', 'score': 0.44}]
chr1	GH01I223550	223550658	223550807	0.69	[{'connected_gene': 'NVL', 'score': 37.13}, {'connected_gene': 'ENSG00000272750', 'score': 31.21}, {'connected_gene': 'CICP5', 'score': 25.24}, {'connected_gene': 'TAF1A', 'score': 24.99}, {'connected_gene': 'LOC105373034', 'score': 0.26}, {'connected_gene': 'GC01M223645', 'score': 0.16}, {'connected_gene': 'CAPN8', 'score': 0.13}]
chr1	GH01I223664	223664778	223666821	1.13	[{'connected_gene': 'CAPN8', 'score': 560.46}, {'connected_gene': 'CAPN2', 'score': 12.35}, {'connected_gene': 'GTF2IP20', 'score': 4.57}, {'connected_gene': 'GC01P223691', 'score': 0.34}]
chr1	GH01I223621	223621479	223621628	0.81	[{'connected_gene': 'CAPN8', 'score': 11.79}, {'connected_gene': 'CAPN2', 'score': 10.57}, {'connected_gene': 'GC01M223645', 'score': 0.34}, {'connected_gene': 'LOC105373034', 'score': 0.13}]
chr1	GH01I223620	223620401	223620600	0.6	[{'connected_gene': 'CAPN8', 'score': 11.77}, {'connected_gene': 'CAPN2', 'score': 10.57}, {'connected_gene': 'GC01M223645', 'score': 0.34}, {'connected_gene': 'LOC105373034', 'score': 0.14}]
chr1	GH01I223622	223622143	223622807	0.76	[{'connected_gene': 'CAPN8', 'score': 16.51}, {'connected_gene': 'CAPN2', 'score': 10.58}, {'connected_gene': 'GC01M223645', 'score': 0.34}, {'connected_gene': 'LOC105373034', 'score': 0.13}]
chr1	GH01I223654	223653951	223655997	0.8	[{'connected_gene': 'CAPN8', 'score': 15.78}, {'connected_gene': 'GTF2IP20', 'score': 4.58}, {'connected_gene': 'SNRPEP10', 'score': 0.39}]
chr1	GH01I223684	223684319	223684448	0.74	[{'connected_gene': 'CAPN8', 'score': 14.14}, {'connected_gene': 'GC01P223691', 'score': 0.44}, {'connected_gene': 'LOC105373281', 'score': 0.34}]
chr1	GH01I223653	223652799	223652948	0.2	[{'connected_gene': 'CAPN8', 'score': 13.89}, {'connected_gene': 'SNRPEP10', 'score': 0.44}]
chr1	GH01I223704	223704306	223709799	1.71	[{'connected_gene': 'LOC105373281', 'score': 550.77}, {'connected_gene': 'CICP5', 'score': 47.43}, {'connected_gene': 'CAPN2', 'score': 37.01}, {'connected_gene': 'WDR26', 'score': 32.57}, {'connected_gene': 'LOC100287497', 'score': 30.01}, {'connected_gene': 'NVL', 'score': 21.24}, {'connected_gene': 'CNIH4', 'score': 19.66}, {'connected_gene': 'CAPN8', 'score': 14.61}, {'connected_gene': 'FBXO28', 'score': 11.72}, {'connected_gene': 'AIDA', 'score': 10.07}, {'connected_gene': 'DISP1', 'score': 9.84}, {'connected_gene': 'LOC102724017', 'score': 9.68}]
chr1	GH01I223736	223736872	223742434	1.24	[{'connected_gene': 'LOC105373046', 'score': 550.77}, {'connected_gene': 'GC01M223736', 'score': 550.77}, {'connected_gene': 'CAPN2', 'score': 11.01}, {'connected_gene': 'NVL', 'score': 10.71}, {'connected_gene': 'GTF2IP20', 'score': 10.37}, {'connected_gene': 'CAPN8', 'score': 5.33}, {'connected_gene': 'GC01M223727', 'score': 0.39}]
chr1	GH01I223652	223652479	223652628	0.46	[{'connected_gene': 'SNRPEP10', 'score': 0.44}, {'connected_gene': 'CAPN8', 'score': 0.39}]
chr1	GH01I223722	223722418	223728531	1.77	[{'connected_gene': 'GC01P223725', 'score': 550.77}, {'connected_gene': 'TP53BP2', 'score': 37.83}, {'connected_gene': 'NVL', 'score': 33.81}, {'connected_gene': 'CAPN2', 'score': 29.98}, {'connected_gene': 'CICP5', 'score': 12.56}, {'connected_gene': 'RNU6-1248P', 'score': 11.17}, {'connected_gene': 'CAPN8', 'score': 5.57}, {'connected_gene': 'FBXO28', 'score': 1.76}, {'connected_gene': 'GC01M223727', 'score': 0.77}, {'connected_gene': 'LOC105373281', 'score': 0.37}]
chr1	GH01I223641	223641719	223641808	0.64	[{'connected_gene': 'GC01M223645', 'score': 0.77}, {'connected_gene': 'CAPN8', 'score': 0.34}, {'connected_gene': 'LOC105373034', 'score': 0.12}]