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
ENST00000378466	[[2439971, 2440499], [2441300, 2441369], [2441495, 2441596], [2442116, 2442221], [2442776, 2442826], [2443066, 2443122], [2444326, 2444478], [2445440, 2445528], [2445792, 2445905], [2447000, 2447156], [2449602, 2449703], [2449954, 2450036], [2450581, 2450763], [2451239, 2451393], [2451760, 2451853], [2452161, 2452345], [2452539, 2452754], [2453156, 2453239], [2457902, 2458039]]	[[2440285, 2440499], [2441300, 2441369], [2441495, 2441596], [2442116, 2442221], [2442776, 2442826], [2443066, 2443122], [2444326, 2444478], [2445440, 2445528], [2445792, 2445905], [2447000, 2447156], [2449602, 2449703], [2449954, 2450036], [2450581, 2450763], [2451239, 2451393], [2451760, 2451853], [2452161, 2452345], [2452539, 2452754], [2453156, 2453239], [2457902, 2458026]]
ENST00000435556	[[2439975, 2440499], [2441300, 2441369], [2441495, 2441596], [2442116, 2442221], [2442776, 2442826], [2443066, 2443122], [2444326, 2444478], [2445440, 2445528], [2445792, 2445905], [2447000, 2447156], [2449602, 2449703], [2449954, 2450036], [2450581, 2450763], [2451239, 2451393], [2451760, 2451853], [2452161, 2452272], [2452583, 2452754], [2453156, 2453239], [2457902, 2458035]]	[[2440285, 2440499], [2441300, 2441369], [2441495, 2441596], [2442116, 2442221], [2442776, 2442826], [2443066, 2443122], [2444326, 2444478], [2445440, 2445528], [2445792, 2445905], [2447000, 2447156], [2449602, 2449703], [2449954, 2450036], [2450581, 2450763], [2451239, 2451393], [2451760, 2451853], [2452161, 2452272], [2452583, 2452754], [2453156, 2453239], [2457902, 2458026]]
ENST00000505228	[[2440233, 2440499], [2441300, 2441369], [2441495, 2441596], [2442116, 2442187], [2442776, 2442826], [2443066, 2443122], [2444326, 2444478], [2445440, 2445528], [2445792, 2445905], [2447000, 2447156], [2449602, 2449703], [2449954, 2450036], [2450581, 2450763], [2451239, 2451393], [2451760, 2451853], [2452161, 2452340]]	[[2442172, 2442187], [2442776, 2442826], [2443066, 2443122], [2444326, 2444478], [2445440, 2445528], [2445792, 2445905], [2447000, 2447156], [2449602, 2449703], [2449954, 2450036], [2450581, 2450763], [2451239, 2451393], [2451760, 2451853], [2452161, 2452340]]
ENST00000502512	[[2441231, 2441369], [2441495, 2441596], [2442116, 2442187], [2442776, 2442826], [2443066, 2443122], [2444326, 2444478], [2445440, 2445528], [2445792, 2445842]]	[[2442172, 2442187], [2442776, 2442826], [2443066, 2443122], [2444326, 2444478], [2445440, 2445528], [2445792, 2445842]]
ENST00000471361	[[2441731, 2442221], [2442776, 2442826], [2443066, 2443122], [2444326, 2444452]]	None
ENST00000487804	[[2443844, 2444478], [2445440, 2445524]]	None
ENST00000515423	[[2445851, 2445905], [2447000, 2447376]]	None
ENST00000468002	[[2445871, 2445905], [2446696, 2446840], [2447000, 2447156], [2449602, 2449703], [2449954, 2450036], [2450581, 2450734]]	[[2446759, 2446840], [2447000, 2447156], [2449602, 2449703], [2449954, 2450036], [2450581, 2450734]]
ENST00000486396	[[2450642, 2450763], [2451239, 2451393], [2451760, 2451853], [2452161, 2452345], [2452539, 2452754], [2457902, 2458014]]	[[2452740, 2452754], [2457902, 2458014]]
ENST00000502770	[[2452278, 2452345], [2452539, 2453380], [2457902, 2458035]]	[[2453048, 2453380], [2457902, 2458026]]
ENST00000491212	[[2452699, 2452754], [2453156, 2453239], [2457039, 2457626]]	None
ENST00000514922	[[2452805, 2453239], [2457902, 2458036]]	None
NM_018216	[[2439969, 2440499], [2441300, 2441369], [2441495, 2441596], [2442116, 2442221], [2442776, 2442826], [2443066, 2443122], [2444326, 2444478], [2445440, 2445528], [2445792, 2445905], [2447000, 2447156], [2449602, 2449703], [2449954, 2450036], [2450581, 2450763], [2451239, 2451393], [2451760, 2451853], [2452161, 2452345], [2452539, 2452754], [2453156, 2453239], [2457902, 2458067]]	[[2440285, 2440499], [2441300, 2441369], [2441495, 2441596], [2442116, 2442221], [2442776, 2442826], [2443066, 2443122], [2444326, 2444478], [2445440, 2445528], [2445792, 2445905], [2447000, 2447156], [2449602, 2449703], [2449954, 2450036], [2450581, 2450763], [2451239, 2451393], [2451760, 2451853], [2452161, 2452345], [2452539, 2452754], [2453156, 2453239], [2457902, 2458050]]

Promoter

Chrom	Start	End	Description
chr1	2458026	2458056	CAGE_peak_1_at_PANK4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I002640	2640940	2644129	1.49	[{'connected_gene': 'MMEL1', 'score': 41.7}, {'connected_gene': 'ACTRT2', 'score': 14.69}, {'connected_gene': 'FAM213B', 'score': 7.94}, {'connected_gene': 'MORN1', 'score': 1.4}, {'connected_gene': 'PANK4', 'score': 1.26}, {'connected_gene': 'GC01M002636', 'score': 0.77}, {'connected_gene': 'GC01P002648', 'score': 0.44}, {'connected_gene': 'TTC34', 'score': 0.1}]
chr1	GH01I002239	2239686	2241010	1.38	[{'connected_gene': 'NADK', 'score': 17.2}, {'connected_gene': 'SKI', 'score': 4.07}, {'connected_gene': 'TNFRSF14', 'score': 3.91}, {'connected_gene': 'GNB1', 'score': 2.2}, {'connected_gene': 'PANK4', 'score': 2.0}, {'connected_gene': 'PIR45792', 'score': 0.28}]
chr1	GH01I002522	2522844	2530166	2.22	[{'connected_gene': 'PANK4', 'score': 555.73}, {'connected_gene': 'ENSG00000224387', 'score': 15.36}, {'connected_gene': 'MORN1', 'score': 15.02}, {'connected_gene': 'FAAP20', 'score': 13.92}, {'connected_gene': 'LOC100129534', 'score': 11.86}, {'connected_gene': 'ENSG00000234396', 'score': 11.79}, {'connected_gene': 'SLC35E2', 'score': 10.84}, {'connected_gene': 'MIB2', 'score': 10.29}, {'connected_gene': 'SLC35E2B', 'score': 9.91}, {'connected_gene': 'LOC100129381', 'score': 9.85}, {'connected_gene': 'MMEL1', 'score': 7.63}, {'connected_gene': 'ENSG00000272449', 'score': 5.8}, {'connected_gene': 'GC01P002529', 'score': 0.77}, {'connected_gene': 'HES5', 'score': 0.77}, {'connected_gene': 'GC01M002529', 'score': 0.77}, {'connected_gene': 'GC01P002503', 'score': 0.34}]
chr1	GH01I003153	3153873	3155986	0.2	[{'connected_gene': 'PANK4', 'score': 5.19}, {'connected_gene': 'GC01P003150', 'score': 0.77}, {'connected_gene': 'LOC105378606', 'score': 0.39}, {'connected_gene': 'PRDM16', 'score': 0.17}]
chr1	GH01I002150	2150201	2153326	1.23	[{'connected_gene': 'PIR38701', 'score': 550.77}, {'connected_gene': 'NADK', 'score': 30.32}, {'connected_gene': 'FAAP20', 'score': 11.25}, {'connected_gene': 'PRKCZ-AS1', 'score': 8.87}, {'connected_gene': 'ENSG00000271806', 'score': 7.72}, {'connected_gene': 'ENSG00000234396', 'score': 5.88}, {'connected_gene': 'LOC105378589', 'score': 4.56}, {'connected_gene': 'CDK11A', 'score': 4.42}, {'connected_gene': 'CDK11B', 'score': 4.41}, {'connected_gene': 'TNFRSF14', 'score': 3.11}, {'connected_gene': 'GNB1', 'score': 2.27}, {'connected_gene': 'SKI', 'score': 2.17}, {'connected_gene': 'PANK4', 'score': 1.84}, {'connected_gene': 'GC01M002157', 'score': 0.77}, {'connected_gene': 'PRKCZ', 'score': 0.15}]
chr1	GH01I002499	2499527	2500595	0.56	[{'connected_gene': 'ENSG00000224387', 'score': 14.98}, {'connected_gene': 'PANK4', 'score': 12.62}, {'connected_gene': 'MORN1', 'score': 11.18}, {'connected_gene': 'GC01P002503', 'score': 0.77}, {'connected_gene': 'ENSG00000229393', 'score': 0.44}, {'connected_gene': 'PLCH2', 'score': 0.18}]
chr1	GH01I002495	2495817	2496850	0.69	[{'connected_gene': 'ENSG00000229393', 'score': 550.77}, {'connected_gene': 'ENSG00000224387', 'score': 15.36}, {'connected_gene': 'PANK4', 'score': 12.6}, {'connected_gene': 'MMEL1', 'score': 11.32}, {'connected_gene': 'MORN1', 'score': 11.18}, {'connected_gene': 'GC01P002503', 'score': 0.44}, {'connected_gene': 'PLCH2', 'score': 0.18}]
chr1	GH01I003181	3181883	3184703	0.63	[{'connected_gene': 'GC01P003185', 'score': 550.77}, {'connected_gene': 'PANK4', 'score': 4.83}, {'connected_gene': 'LOC105378606', 'score': 0.37}, {'connected_gene': 'PRDM16', 'score': 0.13}]
chr1	GH01I002543	2543335	2550837	2.12	[{'connected_gene': 'GC01M002542', 'score': 550.77}, {'connected_gene': 'ENSG00000272449', 'score': 550.77}, {'connected_gene': 'LOC100288379', 'score': 37.53}, {'connected_gene': 'CDK11A', 'score': 33.31}, {'connected_gene': 'SLC35E2', 'score': 32.23}, {'connected_gene': 'LOC100129381', 'score': 22.22}, {'connected_gene': 'TNFRSF14', 'score': 21.58}, {'connected_gene': 'FAAP20', 'score': 19.7}, {'connected_gene': 'MMEL1', 'score': 18.46}, {'connected_gene': 'RER1', 'score': 13.84}, {'connected_gene': 'ENSG00000234396', 'score': 13.28}, {'connected_gene': 'SLC35E2B', 'score': 12.84}, {'connected_gene': 'ENSG00000225931', 'score': 10.8}, {'connected_gene': 'MORN1', 'score': 10.27}, {'connected_gene': 'FAM213B', 'score': 6.66}, {'connected_gene': 'ENSG00000224387', 'score': 6.32}, {'connected_gene': 'SKI', 'score': 3.71}, {'connected_gene': 'PANK4', 'score': 1.48}, {'connected_gene': 'TNFRSF14-AS1', 'score': 0.44}]