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
ENST00000216484	[[77972339, 77978746], [77984380, 77984510], [77987788, 77987924], [78018438, 78018565], [78021642, 78021862], [78023383, 78023489], [78028738, 78028832], [78036726, 78036851], [78043109, 78043258], [78045297, 78045452], [78063528, 78063723], [78082790, 78083116]]	[[77978626, 77978746], [77984380, 77984510], [77987788, 77987924], [78018438, 78018565], [78021642, 78021862], [78023383, 78023489], [78028738, 78028832], [78036726, 78036851], [78043109, 78043258], [78045297, 78045452], [78063528, 78063723], [78082790, 78082922]]
ENST00000556607	[[77978683, 77978746], [77984380, 77984510], [77987788, 77987958], [78018438, 78018535]]	[[77987932, 77987958], [78018438, 78018535]]
ENST00000554901	[[78001942, 78002348], [78018438, 78018565], [78021642, 78021862], [78023383, 78023489], [78028738, 78028832], [78036726, 78036851], [78043109, 78043258], [78045297, 78045452], [78063528, 78063664]]	[[78002238, 78002348], [78018438, 78018565], [78021642, 78021862], [78023383, 78023489], [78028738, 78028832], [78036726, 78036851], [78043109, 78043258], [78045297, 78045452], [78063528, 78063664]]
ENST00000554365	[[78018462, 78018565], [78021642, 78021862], [78023383, 78023664]]	None
ENST00000556264	[[78018471, 78018565], [78021100, 78021269]]	None
ENST00000557566	[[78045108, 78045452], [78063528, 78063694]]	None
NM_004863	[[77972339, 77978746], [77984380, 77984510], [77987788, 77987924], [78018438, 78018565], [78021642, 78021862], [78023383, 78023489], [78028738, 78028832], [78036726, 78036851], [78043109, 78043258], [78045297, 78045452], [78063528, 78063723], [78082790, 78083110]]	[[77978626, 77978746], [77984380, 77984510], [77987788, 77987924], [78018438, 78018565], [78021642, 78021862], [78023383, 78023489], [78028738, 78028832], [78036726, 78036851], [78043109, 78043258], [78045297, 78045452], [78063528, 78063723], [78082790, 78082922]]

Promoter

Chrom	Start	End	Description
chr14	78021251	78021260	CAGE_peak_8_at_SPTLC2_5end
chr14	78023445	78023492	CAGE_peak_5_at_SPTLC2_5end
chr14	78082923	78082932	CAGE_peak_6_at_SPTLC2_5end
chr14	78082940	78082969	CAGE_peak_2_at_SPTLC2_5end
chr14	78082973	78083036	CAGE_peak_1_at_SPTLC2_5end
chr14	78083112	78083140	CAGE_peak_3_at_SPTLC2_5end
chr14	78083149	78083160	CAGE_peak_4_at_SPTLC2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I077588	77588065	77595054	1.36	[{'connected_gene': 'SPTLC2', 'score': 22.2}, {'connected_gene': 'ADCK1', 'score': 20.42}, {'connected_gene': 'RPL21P10', 'score': 4.74}, {'connected_gene': 'SNW1', 'score': 3.45}, {'connected_gene': 'RN7SL587P', 'score': 0.26}]
chr14	GH14I077608	77608971	77609758	0.38	[{'connected_gene': 'SPTLC2', 'score': 10.49}, {'connected_gene': 'ADCK1', 'score': 4.36}, {'connected_gene': 'RN7SL587P', 'score': 0.21}]
chr14	GH14I077611	77611873	77614322	0.92	[{'connected_gene': 'SPTLC2', 'score': 9.97}, {'connected_gene': 'ADCK1', 'score': 4.93}, {'connected_gene': 'RN7SL587P', 'score': 0.2}]
chr14	GH14I077553	77553912	77555447	0.92	[{'connected_gene': 'SPTLC2', 'score': 9.44}, {'connected_gene': 'ADCK1', 'score': 5.77}, {'connected_gene': 'RN7SL587P', 'score': 0.44}]
chr14	GH14I077580	77580445	77583199	1.24	[{'connected_gene': 'SPTLC2', 'score': 27.14}, {'connected_gene': 'RPL21P10', 'score': 14.27}, {'connected_gene': 'ALKBH1', 'score': 12.8}, {'connected_gene': 'SNW1', 'score': 12.7}, {'connected_gene': 'VIPAS39', 'score': 12.33}, {'connected_gene': 'VASH1', 'score': 11.15}, {'connected_gene': 'ZMYND19P1', 'score': 11.12}, {'connected_gene': 'ENSG00000259081', 'score': 11.01}, {'connected_gene': 'RPL22P2', 'score': 10.64}, {'connected_gene': 'NGB', 'score': 9.83}, {'connected_gene': 'ANGEL1', 'score': 4.83}, {'connected_gene': 'RN7SL587P', 'score': 0.29}]
chr14	GH14I077598	77598270	77600472	0.89	[{'connected_gene': 'SPTLC2', 'score': 12.88}, {'connected_gene': 'RPL21P10', 'score': 10.18}, {'connected_gene': 'RN7SL587P', 'score': 0.23}]
chr14	GH14I077575	77575700	77576148	0.2	[{'connected_gene': 'SPTLC2', 'score': 22.19}, {'connected_gene': 'RPL21P10', 'score': 7.62}, {'connected_gene': 'RN7SL587P', 'score': 0.31}]
chr14	GH14I077604	77604557	77607027	1.24	[{'connected_gene': 'SPTLC2', 'score': 10.85}, {'connected_gene': 'RPL21P10', 'score': 6.87}, {'connected_gene': 'RN7SL587P', 'score': 0.22}]
chr14	GH14I077565	77565001	77566600	1.05	[{'connected_gene': 'SPTLC2', 'score': 16.59}, {'connected_gene': 'POMT2', 'score': 9.96}, {'connected_gene': 'GSTZ1', 'score': 9.96}, {'connected_gene': 'SNW1', 'score': 2.46}, {'connected_gene': 'RN7SL587P', 'score': 0.37}]
chr14	GH14I077570	77570039	77571594	0.56	[{'connected_gene': 'SPTLC2', 'score': 18.05}, {'connected_gene': 'TMED8', 'score': 4.46}, {'connected_gene': 'GSTZ1', 'score': 4.29}, {'connected_gene': 'RN7SL587P', 'score': 0.34}]
chr14	GH14I077614	77614894	77617550	2.23	[{'connected_gene': 'SPTLC2', 'score': 561.1}, {'connected_gene': 'SNW1', 'score': 46.87}, {'connected_gene': 'VIPAS39', 'score': 34.59}, {'connected_gene': 'ALKBH1', 'score': 34.59}, {'connected_gene': 'RPL22P2', 'score': 34.22}, {'connected_gene': 'ADCK1', 'score': 19.91}, {'connected_gene': 'ZMYND19P1', 'score': 19.89}, {'connected_gene': 'RPL21P10', 'score': 10.42}, {'connected_gene': 'IRF2BPL', 'score': 9.91}, {'connected_gene': 'RN7SL587P', 'score': 0.2}]
chr14	GH14I077528	77528854	77529972	0.49	[{'connected_gene': 'SPTLC2', 'score': 7.74}, {'connected_gene': 'ISM2', 'score': 6.14}, {'connected_gene': 'TMED8', 'score': 5.13}, {'connected_gene': 'GSTZ1', 'score': 5.02}, {'connected_gene': 'RN7SL587P', 'score': 0.37}, {'connected_gene': 'GC14M077506', 'score': 0.34}]
chr14	GH14I077558	77558710	77560588	0.2	[{'connected_gene': 'SPTLC2', 'score': 5.85}, {'connected_gene': 'NOXRED1', 'score': 4.64}, {'connected_gene': 'RN7SL587P', 'score': 0.39}]
chr14	GH14I077655	77655000	77655401	0.93	[{'connected_gene': 'SPTLC2', 'score': 11.91}, {'connected_gene': 'COX6CP11', 'score': 0.77}, {'connected_gene': 'GC14P077671', 'score': 0.37}]
chr14	GH14I077583	77583722	77586046	0.38	[{'connected_gene': 'SPTLC2', 'score': 5.67}, {'connected_gene': 'RN7SL587P', 'score': 0.28}]
chr14	GH14I077556	77556844	77558031	0.4	[{'connected_gene': 'SPTLC2', 'score': 10.27}, {'connected_gene': 'RN7SL587P', 'score': 0.44}]
chr14	GH14I077301	77301832	77308334	1.39	[{'connected_gene': 'VIPAS39', 'score': 24.31}, {'connected_gene': 'IRF2BPL', 'score': 16.36}, {'connected_gene': 'GSTZ1', 'score': 15.6}, {'connected_gene': 'ALKBH1', 'score': 13.09}, {'connected_gene': 'NGB', 'score': 11.62}, {'connected_gene': 'MIR1260A', 'score': 11.22}, {'connected_gene': 'ZDHHC22', 'score': 10.98}, {'connected_gene': 'ENSG00000201384', 'score': 10.97}, {'connected_gene': 'SAMD15', 'score': 10.85}, {'connected_gene': 'TMED8', 'score': 10.85}, {'connected_gene': 'AHSA1', 'score': 10.53}, {'connected_gene': 'SNW1', 'score': 10.45}, {'connected_gene': 'RPL21P10', 'score': 10.32}, {'connected_gene': 'CIPC', 'score': 9.66}, {'connected_gene': 'POMT2', 'score': 6.49}, {'connected_gene': 'SPTLC2', 'score': 4.43}, {'connected_gene': 'PIR44060', 'score': 0.77}]
chr14	GH14I077551	77551679	77552743	0.49	[{'connected_gene': 'VIPAS39', 'score': 12.05}, {'connected_gene': 'AHSA1', 'score': 12.05}, {'connected_gene': 'POMT2', 'score': 10.61}, {'connected_gene': 'GSTZ1', 'score': 10.61}, {'connected_gene': 'ZDHHC22', 'score': 10.41}, {'connected_gene': 'TMED8', 'score': 10.06}, {'connected_gene': 'SAMD15', 'score': 10.06}, {'connected_gene': 'SPTLC2', 'score': 9.43}, {'connected_gene': 'RN7SL587P', 'score': 0.77}]
chr14	GH14I077552	77551458	77551607	0.74	[{'connected_gene': 'VIPAS39', 'score': 12.05}, {'connected_gene': 'AHSA1', 'score': 12.05}, {'connected_gene': 'POMT2', 'score': 10.61}, {'connected_gene': 'GSTZ1', 'score': 10.61}, {'connected_gene': 'ZDHHC22', 'score': 10.41}, {'connected_gene': 'TMED8', 'score': 10.06}, {'connected_gene': 'SAMD15', 'score': 10.06}, {'connected_gene': 'SPTLC2', 'score': 9.41}, {'connected_gene': 'RN7SL587P', 'score': 0.77}]
chr14	GH14I077596	77596268	77597483	0.31	[{'connected_gene': 'ADCK1', 'score': 20.2}, {'connected_gene': 'SPTLC2', 'score': 11.14}, {'connected_gene': 'RPL21P10', 'score': 6.24}, {'connected_gene': 'RN7SL587P', 'score': 0.25}]
chr14	GH14I077601	77601953	77602757	0.2	[{'connected_gene': 'ADCK1', 'score': 19.91}, {'connected_gene': 'SPTLC2', 'score': 10.46}, {'connected_gene': 'RPL21P10', 'score': 6.24}, {'connected_gene': 'RN7SL587P', 'score': 0.23}]
chr14	GH14I077622	77622238	77623414	0.68	[{'connected_gene': 'ADCK1', 'score': 20.45}, {'connected_gene': 'SPTLC2', 'score': 0.44}, {'connected_gene': 'COX6CP11', 'score': 0.29}]
chr14	GH14I077607	77607310	77608930	1	[{'connected_gene': 'ADCK1', 'score': 19.9}, {'connected_gene': 'SPTLC2', 'score': 9.62}, {'connected_gene': 'RN7SL587P', 'score': 0.21}]
chr14	GH14I077603	77603801	77604400	1.14	[{'connected_gene': 'ADCK1', 'score': 19.91}, {'connected_gene': 'SPTLC2', 'score': 10.73}, {'connected_gene': 'RN7SL587P', 'score': 0.22}]
chr14	GH14I077640	77640793	77642847	0.76	[{'connected_gene': 'ADCK1', 'score': 19.73}, {'connected_gene': 'RPL21P10', 'score': 7.9}, {'connected_gene': 'COX6CP11', 'score': 0.39}, {'connected_gene': 'SPTLC2', 'score': 0.31}]
chr14	GH14I077637	77637876	77639942	0.89	[{'connected_gene': 'ADCK1', 'score': 15.73}, {'connected_gene': 'RPL21P10', 'score': 10.95}, {'connected_gene': 'COX6CP11', 'score': 0.39}, {'connected_gene': 'SPTLC2', 'score': 0.34}]
chr14	GH14I077647	77647998	77648147	0.31	[{'connected_gene': 'RPL21P10', 'score': 5.66}, {'connected_gene': 'COX6CP11', 'score': 0.77}, {'connected_gene': 'SPTLC2', 'score': 0.29}]
chr14	GH14I077561	77561888	77564268	0.51	[{'connected_gene': 'POMT2', 'score': 9.79}, {'connected_gene': 'GSTZ1', 'score': 9.79}, {'connected_gene': 'SPTLC2', 'score': 6.28}, {'connected_gene': 'NOXRED1', 'score': 4.59}, {'connected_gene': 'RN7SL587P', 'score': 0.37}]
chr14	GH14I077541	77541586	77545009	1.04	[{'connected_gene': 'TMED8', 'score': 15.96}, {'connected_gene': 'VIPAS39', 'score': 11.64}, {'connected_gene': 'AHSA1', 'score': 11.64}, {'connected_gene': 'SAMD15', 'score': 10.23}, {'connected_gene': 'SPTLC2', 'score': 8.01}, {'connected_gene': 'ISM2', 'score': 6.02}, {'connected_gene': 'RN7SL587P', 'score': 0.77}, {'connected_gene': 'GC14M077506', 'score': 0.28}]
chr14	GH14I078007	78007086	78007497	0.52	[{'connected_gene': 'SNW1', 'score': 2.71}, {'connected_gene': 'SPTLC2', 'score': 1.4}, {'connected_gene': 'NRXN3', 'score': 0.39}, {'connected_gene': 'LOC105370581', 'score': 0.26}, {'connected_gene': 'GC14M077970', 'score': 0.1}]
chr14	GH14I077638	77637598	77637687	0.31	[{'connected_gene': 'COX6CP11', 'score': 0.37}, {'connected_gene': 'SPTLC2', 'score': 0.34}]
chr14	GH14I077574	77574538	77574687	0.4	[{'connected_gene': 'RN7SL587P', 'score': 0.31}, {'connected_gene': 'SPTLC2', 'score': 0.26}]
chr14	GH14I077579	77579198	77579347	0.51	[{'connected_gene': 'RN7SL587P', 'score': 0.29}, {'connected_gene': 'SPTLC2', 'score': 0.28}]
chr14	GH14I077537	77537801	77538000	0.4	[{'connected_gene': 'RN7SL587P', 'score': 0.44}, {'connected_gene': 'GC14M077506', 'score': 0.29}, {'connected_gene': 'SPTLC2', 'score': 0.18}]
chr14	GH14I077548	77548703	77550079	0.4	[{'connected_gene': 'RN7SL587P', 'score': 550.77}, {'connected_gene': 'TMED8', 'score': 16.16}, {'connected_gene': 'VIPAS39', 'score': 12.05}, {'connected_gene': 'AHSA1', 'score': 12.05}, {'connected_gene': 'POMT2', 'score': 10.62}, {'connected_gene': 'GSTZ1', 'score': 10.62}, {'connected_gene': 'SAMD15', 'score': 10.42}, {'connected_gene': 'ZDHHC22', 'score': 10.41}, {'connected_gene': 'SPTLC2', 'score': 7.57}]
chr14	GH14I077507	77507621	77509363	0.72	[{'connected_gene': 'GC14M077506', 'score': 550.77}, {'connected_gene': 'VIPAS39', 'score': 15.83}, {'connected_gene': 'AHSA1', 'score': 10.88}, {'connected_gene': 'TMED8', 'score': 10.5}, {'connected_gene': 'SAMD15', 'score': 10.5}, {'connected_gene': 'ISM2', 'score': 8.83}, {'connected_gene': 'RN7SL587P', 'score': 0.28}, {'connected_gene': 'SPTLC2', 'score': 0.14}]