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
ENST00000265354	[[43139036, 43139907], [43141584, 43141851], [43143443, 43143705], [43144285, 43144405], [43146031, 43146223], [43146543, 43146620], [43146832, 43149243]]	[[43139394, 43139907], [43141584, 43141851], [43143443, 43143705], [43144285, 43144405], [43146031, 43146223], [43146543, 43146620], [43146832, 43146928]]
ENST00000457278	[[43140127, 43140189], [43141584, 43141851], [43143443, 43143705], [43144285, 43144405], [43146031, 43146223], [43146543, 43146620], [43146832, 43147164]]	[[43141683, 43141851], [43143443, 43143705], [43144285, 43144405], [43146031, 43146223], [43146543, 43146620], [43146832, 43146928]]
NM_003131	[[43139032, 43139907], [43141584, 43141851], [43143443, 43143705], [43144285, 43144405], [43146031, 43146223], [43146543, 43146620], [43146832, 43149244]]	[[43139394, 43139907], [43141584, 43141851], [43143443, 43143705], [43144285, 43144405], [43146031, 43146223], [43146543, 43146620], [43146832, 43146928]]
NM_001292001	[[43140127, 43140189], [43141584, 43141851], [43143443, 43143705], [43144285, 43144405], [43146031, 43146223], [43146543, 43146620], [43146832, 43149244]]	[[43141683, 43141851], [43143443, 43143705], [43144285, 43144405], [43146031, 43146223], [43146543, 43146620], [43146832, 43146928]]

Promoter

Chrom	Start	End	Description
chr6	43138999	43139017	CAGE_peak_2_at_SRF_5end
chr6	43139041	43139094	CAGE_peak_3_at_SRF_5end
chr6	43139102	43139112	CAGE_peak_7_at_SRF_5end
chr6	43139126	43139137	CAGE_peak_6_at_SRF_5end
chr6	43139153	43139232	CAGE_peak_1_at_SRF_5end
chr6	43139248	43139261	CAGE_peak_4_at_SRF_5end
chr6	43140095	43140145	CAGE_peak_5_at_SRF_5end
chr6	43140149	43140177	CAGE_peak_8_at_SRF_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I043103	43103234	43104091	0.4	[{'connected_gene': 'CUL7', 'score': 30.72}, {'connected_gene': 'PTK7', 'score': 12.61}, {'connected_gene': 'KLC4', 'score': 11.4}, {'connected_gene': 'RN7SL403P', 'score': 10.77}, {'connected_gene': 'PIR51341', 'score': 0.37}, {'connected_gene': 'SRF', 'score': 0.2}]
chr6	GH06I043119	43119030	43127749	1.18	[{'connected_gene': 'CUL7', 'score': 28.32}, {'connected_gene': 'PTK7', 'score': 11.9}, {'connected_gene': 'KLC4', 'score': 11.69}, {'connected_gene': 'RN7SL403P', 'score': 11.38}, {'connected_gene': 'PPP2R5D', 'score': 10.99}, {'connected_gene': 'ENSG00000231113', 'score': 10.88}, {'connected_gene': 'CNPY3', 'score': 10.88}, {'connected_gene': 'DNPH1', 'score': 10.53}, {'connected_gene': 'MEA1', 'score': 10.48}, {'connected_gene': 'KLHDC3', 'score': 10.48}, {'connected_gene': 'RPL7L1', 'score': 10.02}, {'connected_gene': 'PEX6', 'score': 4.93}, {'connected_gene': 'PIR51341', 'score': 0.28}, {'connected_gene': 'SRF', 'score': 0.25}]
chr6	GH06I043113	43113078	43117759	1.62	[{'connected_gene': 'CUL7', 'score': 24.63}, {'connected_gene': 'GTPBP2', 'score': 19.34}, {'connected_gene': 'UBR2', 'score': 16.08}, {'connected_gene': 'POLH', 'score': 15.97}, {'connected_gene': 'RPS2P29', 'score': 14.46}, {'connected_gene': 'ZNF318', 'score': 14.45}, {'connected_gene': 'BICRAL', 'score': 12.88}, {'connected_gene': 'RRP36', 'score': 12.77}, {'connected_gene': 'DNPH1', 'score': 12.56}, {'connected_gene': 'ABCC10', 'score': 11.79}, {'connected_gene': 'PEX6', 'score': 6.13}, {'connected_gene': 'PTK7', 'score': 4.17}, {'connected_gene': 'PIR51341', 'score': 0.31}, {'connected_gene': 'SRF', 'score': 0.22}]
chr6	GH06I043141	43141677	43145247	1.22	[{'connected_gene': 'CUL7', 'score': 24.91}, {'connected_gene': 'DNPH1', 'score': 20.97}, {'connected_gene': 'KLC4', 'score': 11.38}, {'connected_gene': 'RN7SL403P', 'score': 11.38}, {'connected_gene': 'MEA1', 'score': 10.76}, {'connected_gene': 'KLHDC3', 'score': 10.76}, {'connected_gene': 'PPP2R5D', 'score': 10.73}, {'connected_gene': 'RPL7L1', 'score': 5.02}, {'connected_gene': 'SRF', 'score': 0.31}, {'connected_gene': 'PIR51341', 'score': 0.22}, {'connected_gene': 'PTK7', 'score': 0.2}]
chr6	GH06I043169	43169944	43176774	2.31	[{'connected_gene': 'SRF', 'score': 550.77}, {'connected_gene': 'CUL7', 'score': 22.72}, {'connected_gene': 'RPS2P29', 'score': 21.03}, {'connected_gene': 'ABCC10', 'score': 20.77}, {'connected_gene': 'DNPH1', 'score': 18.67}, {'connected_gene': 'GTPBP2', 'score': 15.82}, {'connected_gene': 'POLR1C', 'score': 14.66}, {'connected_gene': 'UBR2', 'score': 14.16}, {'connected_gene': 'BICRAL', 'score': 12.49}, {'connected_gene': 'ZNF318', 'score': 11.85}, {'connected_gene': 'POLH', 'score': 11.5}, {'connected_gene': 'RRP36', 'score': 10.82}, {'connected_gene': 'PTK7', 'score': 10.41}, {'connected_gene': 'RPL34P14', 'score': 10.37}, {'connected_gene': 'YIPF3', 'score': 10.03}, {'connected_gene': 'RPL24P4', 'score': 9.82}, {'connected_gene': 'ENSG00000271754', 'score': 9.8}, {'connected_gene': 'CUL9', 'score': 0.44}]
chr6	GH06I043150	43150423	43150572	0.8	[{'connected_gene': 'SRF', 'score': 0.34}, {'connected_gene': 'PIR51341', 'score': 0.21}, {'connected_gene': 'PTK7', 'score': 0.19}]
chr6	GH06I043129	43129103	43129252	0.4	[{'connected_gene': 'PTK7', 'score': 11.88}, {'connected_gene': 'KLC4', 'score': 11.68}, {'connected_gene': 'CUL7', 'score': 11.4}, {'connected_gene': 'RN7SL403P', 'score': 11.38}, {'connected_gene': 'PPP2R5D', 'score': 10.98}, {'connected_gene': 'ENSG00000231113', 'score': 10.88}, {'connected_gene': 'CNPY3', 'score': 10.87}, {'connected_gene': 'MEA1', 'score': 10.47}, {'connected_gene': 'KLHDC3', 'score': 10.46}, {'connected_gene': 'RPL7L1', 'score': 10.02}, {'connected_gene': 'SRF', 'score': 0.26}, {'connected_gene': 'PIR51341', 'score': 0.26}]
chr6	GH06I043127	43127903	43128052	0.31	[{'connected_gene': 'PTK7', 'score': 11.88}, {'connected_gene': 'KLC4', 'score': 11.68}, {'connected_gene': 'CUL7', 'score': 11.41}, {'connected_gene': 'RN7SL403P', 'score': 11.38}, {'connected_gene': 'PPP2R5D', 'score': 10.98}, {'connected_gene': 'ENSG00000231113', 'score': 10.88}, {'connected_gene': 'CNPY3', 'score': 10.87}, {'connected_gene': 'MEA1', 'score': 10.47}, {'connected_gene': 'KLHDC3', 'score': 10.47}, {'connected_gene': 'RPL7L1', 'score': 10.02}, {'connected_gene': 'SRF', 'score': 0.26}, {'connected_gene': 'PIR51341', 'score': 0.26}]
chr6	GH06I044154	44154717	44157482	1.13	[{'connected_gene': 'TMEM63B', 'score': 17.27}, {'connected_gene': 'MRPL14', 'score': 7.96}, {'connected_gene': 'SRF', 'score': 5.45}, {'connected_gene': 'CAPN11', 'score': 0.77}, {'connected_gene': 'PIR60878', 'score': 0.77}]
chr6	GH06I043095	43095363	43098565	1.19	[{'connected_gene': 'PEX6', 'score': 19.78}, {'connected_gene': 'CUL7', 'score': 18.17}, {'connected_gene': 'PPP2R5D', 'score': 10.82}, {'connected_gene': 'MEA1', 'score': 10.24}, {'connected_gene': 'KLHDC3', 'score': 10.24}, {'connected_gene': 'DNPH1', 'score': 9.97}, {'connected_gene': 'PIR51341', 'score': 0.44}, {'connected_gene': 'PTK7', 'score': 0.34}, {'connected_gene': 'SRF', 'score': 0.19}]
chr6	GH06I043087	43087570	43094831	1.44	[{'connected_gene': 'ZNF318', 'score': 130.29}, {'connected_gene': 'ABCC10', 'score': 93.48}, {'connected_gene': 'CUL7', 'score': 77.97}, {'connected_gene': 'RPS2P29', 'score': 71.6}, {'connected_gene': 'POLH', 'score': 69.13}, {'connected_gene': 'POLR1C', 'score': 68.19}, {'connected_gene': 'XPO5', 'score': 62.78}, {'connected_gene': 'GTPBP2', 'score': 60.98}, {'connected_gene': 'BICRAL', 'score': 55.95}, {'connected_gene': 'ENSG00000271970', 'score': 45.09}, {'connected_gene': 'RPL34P14', 'score': 43.19}, {'connected_gene': 'UBR2', 'score': 34.7}, {'connected_gene': 'PEX6', 'score': 27.5}, {'connected_gene': 'RPL24P4', 'score': 24.52}, {'connected_gene': 'PTK7', 'score': 22.79}, {'connected_gene': 'RRP36', 'score': 22.35}, {'connected_gene': 'ENSG00000272223', 'score': 21.44}, {'connected_gene': 'ENSG00000271754', 'score': 20.31}, {'connected_gene': 'TJAP1', 'score': 20.08}, {'connected_gene': 'RPL7L1', 'score': 11.17}, {'connected_gene': 'CUL9', 'score': 10.58}, {'connected_gene': 'DNPH1', 'score': 10.03}, {'connected_gene': 'PIR51341', 'score': 0.77}, {'connected_gene': 'SRF', 'score': 0.18}]
chr6	GH06I043180	43180589	43183738	2.29	[{'connected_gene': 'CUL9', 'score': 550.77}, {'connected_gene': 'CUL7', 'score': 31.11}, {'connected_gene': 'ZNF318', 'score': 29.99}, {'connected_gene': 'POLH', 'score': 28.95}, {'connected_gene': 'GTPBP2', 'score': 24.21}, {'connected_gene': 'RPS2P29', 'score': 23.94}, {'connected_gene': 'DNPH1', 'score': 22.91}, {'connected_gene': 'ABCC10', 'score': 15.8}, {'connected_gene': 'BICRAL', 'score': 15.34}, {'connected_gene': 'XPO5', 'score': 13.87}, {'connected_gene': 'POLR1C', 'score': 13.47}, {'connected_gene': 'RPL34P14', 'score': 11.54}, {'connected_gene': 'RRP36', 'score': 11.44}, {'connected_gene': 'ENSG00000271754', 'score': 10.52}, {'connected_gene': 'KLC4', 'score': 10.1}, {'connected_gene': 'RN7SL403P', 'score': 10.07}, {'connected_gene': 'UBR2', 'score': 9.96}, {'connected_gene': 'DLK2', 'score': 9.38}, {'connected_gene': 'KLHDC3', 'score': 9.29}, {'connected_gene': 'MEA1', 'score': 9.29}, {'connected_gene': 'PPP2R5D', 'score': 9.27}, {'connected_gene': 'SRF', 'score': 0.39}]
chr6	GH06I043151	43150031	43150305	0.66	[{'connected_gene': 'RSPH9', 'score': 3.54}, {'connected_gene': 'LRRC73', 'score': 2.92}, {'connected_gene': 'MAD2L1BP', 'score': 2.12}, {'connected_gene': 'SRF', 'score': 0.34}, {'connected_gene': 'PIR51341', 'score': 0.21}, {'connected_gene': 'PTK7', 'score': 0.19}]