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
ENST00000524079	[[133697252, 133697351], [133699707, 133699901], [133714391, 133714485]]	None
ENST00000522780	[[133697252, 133697351], [133699707, 133699901], [133734285, 133734361], [133740043, 133740232]]	[[133699864, 133699901], [133734285, 133734361], [133740043, 133740232]]
ENST00000523829	[[133722193, 133723228], [133726399, 133726461], [133734285, 133734361], [133740043, 133740232], [133759187, 133759360], [133764030, 133764243], [133769479, 133769540], [133771085, 133771161], [133772721, 133772807]]	[[133723100, 133723228], [133726399, 133726461], [133734285, 133734361], [133740043, 133740232], [133759187, 133759360], [133764030, 133764243], [133769479, 133769540], [133771085, 133771125]]
ENST00000377901	[[133722193, 133723228], [133726240, 133726298], [133726399, 133726461], [133734285, 133734361], [133759187, 133759360], [133764030, 133764243], [133769479, 133769540], [133771085, 133771161], [133772721, 133772828]]	[[133723212, 133723228], [133726240, 133726298], [133726399, 133726461], [133734285, 133734361], [133759187, 133759360], [133764030, 133764243], [133769479, 133769540], [133771085, 133771125]]
ENST00000356838	[[133722193, 133723228], [133726240, 133726298], [133726399, 133726461], [133734285, 133734361], [133740043, 133740232], [133759187, 133759303], [133764030, 133764243], [133769479, 133769540], [133771085, 133771161], [133772721, 133772828]]	[[133723212, 133723228], [133726240, 133726298], [133726399, 133726461], [133734285, 133734361], [133740043, 133740232], [133759187, 133759303], [133764030, 133764243], [133769479, 133769540], [133771085, 133771125]]
ENST00000522334	[[133759193, 133759360], [133764030, 133764243], [133769479, 133769540], [133772721, 133772876]]	[[133759193, 133759360], [133764030, 133764053]]
ENST00000519016	[[133759259, 133759360], [133764030, 133764243], [133771085, 133771161], [133772721, 133772876]]	[[133759259, 133759360], [133764030, 133764053]]
ENST00000517538	[[133759289, 133759360], [133764030, 133764243], [133769479, 133769540], [133770228, 133770296], [133771085, 133771161], [133772721, 133772822]]	None
ENST00000519187	[[133764047, 133764243], [133769479, 133769540], [133771085, 133771161], [133771543, 133771693], [133772721, 133772794]]	[[133764047, 133764243], [133769479, 133769540], [133771085, 133771125]]
ENST00000519304	[[133764069, 133764243], [133769479, 133769540], [133771085, 133771161], [133772537, 133772615], [133772721, 133772828]]	[[133764069, 133764243], [133769479, 133769540], [133771085, 133771125]]
ENST00000522594	[[133770619, 133771161], [133772721, 133772958]]	None
NM_001145153	[[133722190, 133723228], [133726240, 133726298], [133726399, 133726461], [133734285, 133734361], [133759187, 133759360], [133764030, 133764243], [133769479, 133769540], [133771085, 133771161], [133772721, 133772914]]	[[133723212, 133723228], [133726240, 133726298], [133726399, 133726461], [133734285, 133734361], [133759187, 133759360], [133764030, 133764243], [133769479, 133769540], [133771085, 133771125]]
NM_144649	[[133722190, 133723228], [133726240, 133726298], [133726399, 133726461], [133734285, 133734361], [133740043, 133740232], [133759187, 133759303], [133764030, 133764243], [133769479, 133769540], [133771085, 133771161], [133772721, 133772914]]	[[133723212, 133723228], [133726240, 133726298], [133726399, 133726461], [133734285, 133734361], [133740043, 133740232], [133759187, 133759303], [133764030, 133764243], [133769479, 133769540], [133771085, 133771125]]

Promoter

Chrom	Start	End	Description
chr8	133772747	133772756	CAGE_peak_6_at_TMEM71_5end
chr8	133772798	133772840	CAGE_peak_1_at_TMEM71_5end
chr8	133772856	133772863	CAGE_peak_3_at_TMEM71_5end
chr8	133772870	133772881	CAGE_peak_2_at_TMEM71_5end
chr8	133772882	133772900	CAGE_peak_4_at_TMEM71_5end
chr8	133772908	133772919	CAGE_peak_5_at_TMEM71_5end
chr8	133772952	133772963	CAGE_peak_7_at_TMEM71_5end
chr8	133773007	133773012	CAGE_peak_8_at_TMEM71_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I133031	133031685	133038373	1.48	[{'connected_gene': 'TG', 'score': 19.41}, {'connected_gene': 'PHF20L1', 'score': 14.74}, {'connected_gene': 'WISP1', 'score': 11.08}, {'connected_gene': 'SLA', 'score': 10.96}, {'connected_gene': 'ENSG00000223697', 'score': 9.54}, {'connected_gene': 'TMEM71', 'score': 4.82}, {'connected_gene': 'GC08P133037', 'score': 0.77}, {'connected_gene': 'LOC105375768', 'score': 0.34}]
chr8	GH08I133030	133030519	133031065	0.38	[{'connected_gene': 'PHF20L1', 'score': 14.42}, {'connected_gene': 'TG', 'score': 12.01}, {'connected_gene': 'SLA', 'score': 10.66}, {'connected_gene': 'ENSG00000223697', 'score': 9.54}, {'connected_gene': 'TMEM71', 'score': 4.77}, {'connected_gene': 'GC08P133037', 'score': 0.44}, {'connected_gene': 'LOC105375768', 'score': 0.37}]
chr8	GH08I132753	132753490	132753843	0.22	[{'connected_gene': 'PHF20L1', 'score': 19.93}, {'connected_gene': 'TMEM71', 'score': 10.29}, {'connected_gene': 'LRRC6', 'score': 10.15}, {'connected_gene': 'SLA', 'score': 1.35}]
chr8	GH08I132789	132789865	132791262	0.38	[{'connected_gene': 'PHF20L1', 'score': 9.57}, {'connected_gene': 'TMEM71', 'score': 5.82}, {'connected_gene': 'GC08P132799', 'score': 0.44}, {'connected_gene': 'GC08M132785', 'score': 0.31}]
chr8	GH08I132774	132774504	132776634	2.18	[{'connected_gene': 'PHF20L1', 'score': 558.28}, {'connected_gene': 'ENSG00000223697', 'score': 12.4}, {'connected_gene': 'TMEM71', 'score': 5.9}, {'connected_gene': 'GC08P132799', 'score': 0.34}]
chr8	GH08I133138	133138175	133140590	1.34	[{'connected_gene': 'SLA', 'score': 13.67}, {'connected_gene': 'WISP1', 'score': 10.78}, {'connected_gene': 'ST3GAL1', 'score': 2.78}, {'connected_gene': 'TMEM71', 'score': 2.76}, {'connected_gene': 'PHF20L1', 'score': 2.36}, {'connected_gene': 'LOC105375769', 'score': 0.77}, {'connected_gene': 'GC08P133116', 'score': 0.34}]
chr8	GH08I133051	133051773	133077615	2.37	[{'connected_gene': 'SLA', 'score': 565.3}, {'connected_gene': 'TG', 'score': 24.13}, {'connected_gene': 'WISP1', 'score': 19.34}, {'connected_gene': 'TMEM71', 'score': 6.45}, {'connected_gene': 'PHF20L1', 'score': 6.32}, {'connected_gene': 'ENSG00000270137', 'score': 5.31}, {'connected_gene': 'GC08P133070', 'score': 0.44}, {'connected_gene': 'GC08P133054', 'score': 0.44}]
chr8	GH08I133177	133177898	133178728	0.97	[{'connected_gene': 'SLA', 'score': 10.98}, {'connected_gene': 'ST3GAL1', 'score': 2.97}, {'connected_gene': 'PHF20L1', 'score': 2.5}, {'connected_gene': 'TMEM71', 'score': 2.19}, {'connected_gene': 'GC08M133177', 'score': 0.77}, {'connected_gene': 'LOC105375769', 'score': 0.29}]
chr8	GH08I132747	132747101	132748700	0.31	[{'connected_gene': 'LRRC6', 'score': 18.75}, {'connected_gene': 'PHF20L1', 'score': 10.67}, {'connected_gene': 'TMEM71', 'score': 0.39}]
chr8	GH08I132755	132755432	132756426	0.2	[{'connected_gene': 'LRRC6', 'score': 17.84}, {'connected_gene': 'PHF20L1', 'score': 6.11}, {'connected_gene': 'TMEM71', 'score': 0.77}]
chr8	GH08I132742	132742920	132744321	0.2	[{'connected_gene': 'LRRC6', 'score': 18.91}, {'connected_gene': 'PHF20L1', 'score': 16.47}, {'connected_gene': 'TMEM71', 'score': 0.37}]
chr8	GH08I132734	132734630	132736728	0.38	[{'connected_gene': 'LRRC6', 'score': 18.65}, {'connected_gene': 'TMEM71', 'score': 11.4}, {'connected_gene': 'PHF20L1', 'score': 10.86}]
chr8	GH08I132704	132704275	132704424	0.57	[{'connected_gene': 'LRRC6', 'score': 0.37}, {'connected_gene': 'TMEM71', 'score': 0.22}]
chr8	GH08I132703	132703479	132703990	0.43	[{'connected_gene': 'LRRC6', 'score': 50.77}, {'connected_gene': 'TMEM71', 'score': 0.22}]
chr8	GH08I132702	132702980	132703167	0.2	[{'connected_gene': 'LRRC6', 'score': 50.78}, {'connected_gene': 'TMEM71', 'score': 0.22}]
chr8	GH08I132587	132587590	132587825	0.25	[{'connected_gene': 'TMEM71', 'score': 1.95}, {'connected_gene': 'HPYR1', 'score': 0.31}, {'connected_gene': 'LOC105375767', 'score': 0.17}, {'connected_gene': 'LRRC6', 'score': 0.15}]
chr8	GH08I133147	133146393	133148089	1.17	[{'connected_gene': 'TMEM71', 'score': 37.56}, {'connected_gene': 'PHF20L1', 'score': 27.98}, {'connected_gene': 'WISP1', 'score': 17.76}, {'connected_gene': 'SLA', 'score': 11.37}, {'connected_gene': 'TG', 'score': 10.26}, {'connected_gene': 'ST3GAL1', 'score': 4.08}, {'connected_gene': 'LOC105375769', 'score': 0.77}, {'connected_gene': 'GC08M133177', 'score': 0.29}]
chr8	GH08I133077	133077825	133078509	0.82	[{'connected_gene': 'TMEM71', 'score': 41.69}, {'connected_gene': 'PHF20L1', 'score': 32.98}, {'connected_gene': 'WISP1', 'score': 16.21}, {'connected_gene': 'SLA', 'score': 12.4}, {'connected_gene': 'ST3GAL1', 'score': 5.78}, {'connected_gene': 'GC08P133070', 'score': 0.44}, {'connected_gene': 'TG', 'score': 0.08}]
chr8	GH08I133080	133080572	133083735	1.25	[{'connected_gene': 'TMEM71', 'score': 42.18}, {'connected_gene': 'PHF20L1', 'score': 33.3}, {'connected_gene': 'WISP1', 'score': 17.19}, {'connected_gene': 'SLA', 'score': 14.02}, {'connected_gene': 'ST3GAL1', 'score': 6.1}, {'connected_gene': 'TG', 'score': 2.87}, {'connected_gene': 'GC08P133070', 'score': 0.39}]
chr8	GH08I133149	133149601	133151800	1.2	[{'connected_gene': 'TMEM71', 'score': 26.0}, {'connected_gene': 'PHF20L1', 'score': 24.93}, {'connected_gene': 'WISP1', 'score': 17.72}, {'connected_gene': 'SLA', 'score': 10.66}, {'connected_gene': 'ST3GAL1', 'score': 8.15}, {'connected_gene': 'LOC105375769', 'score': 0.44}, {'connected_gene': 'GC08M133177', 'score': 0.29}]
chr8	GH08I132740	132740335	132740484	0.51	[{'connected_gene': 'TMEM71', 'score': 11.43}, {'connected_gene': 'PHF20L1', 'score': 10.88}, {'connected_gene': 'LRRC6', 'score': 10.59}]
chr8	GH08I132758	132758025	132762231	2.03	[{'connected_gene': 'TMEM71', 'score': 593.65}, {'connected_gene': 'PHF20L1', 'score': 33.76}, {'connected_gene': 'LRRC6', 'score': 28.33}]
chr8	GH08I132736	132736998	132738279	0.38	[{'connected_gene': 'TMEM71', 'score': 11.43}, {'connected_gene': 'PHF20L1', 'score': 10.86}, {'connected_gene': 'LRRC6', 'score': 10.6}]
chr8	GH08I132767	132767713	132769200	1.29	[{'connected_gene': 'TMEM71', 'score': 18.55}, {'connected_gene': 'PHF20L1', 'score': 17.86}, {'connected_gene': 'LRRC6', 'score': 15.88}]
chr8	GH08I132784	132784486	132785568	0.52	[{'connected_gene': 'TMEM71', 'score': 11.07}, {'connected_gene': 'PHF20L1', 'score': 0.44}, {'connected_gene': 'GC08P132799', 'score': 0.39}, {'connected_gene': 'GC08M132785', 'score': 0.28}]
chr8	GH08I132687	132687546	132687644	0.31	[{'connected_gene': 'TMEM71', 'score': 9.23}, {'connected_gene': 'LRRC6', 'score': 0.77}]
chr8	GH08I133142	133142401	133145999	1.04	[{'connected_gene': 'LOC105375769', 'score': 550.77}, {'connected_gene': 'TMEM71', 'score': 23.52}, {'connected_gene': 'PHF20L1', 'score': 22.4}, {'connected_gene': 'ST3GAL1', 'score': 12.68}, {'connected_gene': 'WISP1', 'score': 11.43}, {'connected_gene': 'SLA', 'score': 11.37}, {'connected_gene': 'NDRG1', 'score': 1.22}, {'connected_gene': 'GC08M133177', 'score': 0.28}]
chr8	GH08I133045	133045674	133046936	1.21	[{'connected_gene': 'MIR7848', 'score': 550.77}, {'connected_gene': 'TG', 'score': 14.45}, {'connected_gene': 'SLA', 'score': 13.43}, {'connected_gene': 'WISP1', 'score': 11.14}, {'connected_gene': 'TMEM71', 'score': 4.86}, {'connected_gene': 'PHF20L1', 'score': 4.84}, {'connected_gene': 'GC08P133041', 'score': 0.44}]
chr8	GH08I132845	132845540	132846704	0.46	[{'connected_gene': 'ENSG00000223697', 'score': 550.77}, {'connected_gene': 'LRRC6', 'score': 15.04}, {'connected_gene': 'TMEM71', 'score': 10.17}, {'connected_gene': 'PHF20L1', 'score': 9.31}, {'connected_gene': 'TG', 'score': 0.34}]