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
ENST00000402989	[[17846713, 17846880], [17847686, 17847784], [17851689, 17851842], [17860125, 17860231], [17864904, 17865030], [17876418, 17876564], [17877555, 17877693], [17881474, 17881645], [17883095, 17883176], [17884423, 17884559], [17888485, 17888646], [17889905, 17890020], [17896127, 17896332], [17897352, 17897531], [17898007, 17898172], [17898354, 17898443], [17899343, 17899490], [17902206, 17902305], [17902408, 17902528], [17906523, 17906625], [17907655, 17907736], [17912344, 17912406], [17913007, 17913144], [17919487, 17919593], [17922878, 17922996], [17927093, 17927218], [17969081, 17969188], [17980417, 17980492], [17980905, 17981027], [17981370, 17981462]]	[[17846765, 17846880], [17847686, 17847784], [17851689, 17851842], [17860125, 17860231], [17864904, 17865030], [17876418, 17876564], [17877555, 17877693], [17881474, 17881645], [17883095, 17883176], [17884423, 17884559], [17888485, 17888646], [17889905, 17890020], [17896127, 17896332], [17897352, 17897531], [17898007, 17898172], [17898354, 17898443], [17899343, 17899490], [17902206, 17902305], [17902408, 17902528], [17906523, 17906625], [17907655, 17907736], [17912344, 17912406], [17913007, 17913144], [17919487, 17919593], [17922878, 17922996], [17927093, 17927213]]
ENST00000428868	[[17922945, 17922996], [17927093, 17927218], [17969081, 17969188], [17980905, 17981027], [17981370, 17981509]]	[[17922945, 17922996], [17927093, 17927213]]
ENST00000448223	[[17845078, 17846880], [17847686, 17847784], [17851689, 17851842], [17860125, 17860231], [17864904, 17865030], [17876418, 17876564], [17877555, 17877693], [17881474, 17881645], [17883095, 17883176], [17884423, 17884559], [17888485, 17888646], [17889905, 17890020], [17896127, 17896332], [17897352, 17897531], [17898007, 17898172], [17898354, 17898443], [17899343, 17899490], [17902206, 17902305], [17902408, 17902528], [17906523, 17906625], [17907655, 17907736], [17912344, 17912406], [17913007, 17913144], [17919487, 17919593], [17922878, 17922996], [17927093, 17927218], [17934244, 17934331], [17934892, 17935070]]	[[17846765, 17846880], [17847686, 17847784], [17851689, 17851842], [17860125, 17860231], [17864904, 17865030], [17876418, 17876564], [17877555, 17877693], [17881474, 17881645], [17883095, 17883176], [17884423, 17884559], [17888485, 17888646], [17889905, 17890020], [17896127, 17896332], [17897352, 17897531], [17898007, 17898172], [17898354, 17898443], [17899343, 17899490], [17902206, 17902305], [17902408, 17902528], [17906523, 17906625], [17907655, 17907736], [17912344, 17912406], [17913007, 17913144], [17919487, 17919593], [17922878, 17922996], [17927093, 17927213]]
ENST00000351948	[[17845078, 17846880], [17847686, 17847784], [17851689, 17851842], [17860125, 17860231], [17864904, 17865030], [17876418, 17876564], [17877555, 17877693], [17881474, 17881645], [17883095, 17883176], [17884423, 17884559], [17888485, 17888646], [17889905, 17890020], [17896127, 17896332], [17897352, 17897531], [17898007, 17898172], [17898354, 17898443], [17899343, 17899490], [17902206, 17902305], [17902408, 17902528], [17906523, 17906625], [17907655, 17907736], [17912344, 17912406], [17913007, 17913144], [17919487, 17919593], [17922878, 17922996], [17927093, 17927218], [17934892, 17935097]]	[[17846765, 17846880], [17847686, 17847784], [17851689, 17851842], [17860125, 17860231], [17864904, 17865030], [17876418, 17876564], [17877555, 17877693], [17881474, 17881645], [17883095, 17883176], [17884423, 17884559], [17888485, 17888646], [17889905, 17890020], [17896127, 17896332], [17897352, 17897531], [17898007, 17898172], [17898354, 17898443], [17899343, 17899490], [17902206, 17902305], [17902408, 17902528], [17906523, 17906625], [17907655, 17907736], [17912344, 17912406], [17913007, 17913144], [17919487, 17919593], [17922878, 17922996], [17927093, 17927213]]
ENST00000481708	[[17846392, 17846880], [17847686, 17847784], [17851689, 17851842], [17860125, 17863283]]	None
ENST00000381272	[[17846665, 17846880], [17847686, 17847784], [17851689, 17851842], [17860125, 17860231], [17864904, 17865030], [17876418, 17876564], [17877555, 17877693], [17881474, 17881645], [17883095, 17883176], [17884423, 17884559], [17888485, 17888646], [17889905, 17890020], [17896127, 17896332], [17897352, 17897531], [17898007, 17898172], [17898354, 17898443], [17899343, 17899490], [17902206, 17902305], [17902408, 17902528], [17906523, 17906625], [17907655, 17907736], [17912344, 17912406], [17913007, 17913144], [17919487, 17919593], [17922011, 17922089], [17922878, 17922996], [17927093, 17927218], [17934244, 17934331], [17934892, 17935070]]	[[17846765, 17846880], [17847686, 17847784], [17851689, 17851842], [17860125, 17860231], [17864904, 17865030], [17876418, 17876564], [17877555, 17877693], [17881474, 17881645], [17883095, 17883176], [17884423, 17884559], [17888485, 17888646], [17889905, 17890020], [17896127, 17896332], [17897352, 17897531], [17898007, 17898172], [17898354, 17898443], [17899343, 17899490], [17902206, 17902305], [17902408, 17902528], [17906523, 17906625], [17907655, 17907736], [17912344, 17912406], [17913007, 17913144], [17919487, 17919593], [17922011, 17922089], [17922878, 17922996], [17927093, 17927213]]
ENST00000446852	[[17884423, 17884559], [17888485, 17888646], [17889905, 17890020], [17896127, 17896332], [17897352, 17897531], [17898007, 17898172], [17898354, 17898443], [17899343, 17899490], [17902206, 17902305], [17902408, 17902528], [17906523, 17906625], [17907655, 17907736], [17912344, 17912406], [17913007, 17913144], [17919487, 17919593], [17922011, 17922089], [17922878, 17922996], [17927093, 17927218], [17934244, 17934331], [17934892, 17935040]]	[[17884423, 17884559], [17888485, 17888646], [17889905, 17890020], [17896127, 17896332], [17897352, 17897531], [17898007, 17898172], [17898354, 17898443], [17899343, 17899490], [17902206, 17902305], [17902408, 17902528], [17906523, 17906625], [17907655, 17907736], [17912344, 17912406], [17913007, 17913144], [17919487, 17919593], [17922011, 17922089], [17922878, 17922996], [17927093, 17927213]]
ENST00000430591	[[17888494, 17888646], [17889905, 17890020], [17894651, 17894847], [17896127, 17896144]]	[[17894795, 17894847], [17896127, 17896144]]
ENST00000489535	[[17978831, 17979165], [17980417, 17980492], [17980905, 17981027], [17981370, 17981425]]	None
NM_001142286	[[17845078, 17846880], [17847686, 17847784], [17851689, 17851842], [17860125, 17860231], [17864904, 17865030], [17876418, 17876564], [17877555, 17877693], [17881474, 17881645], [17883095, 17883176], [17884423, 17884559], [17888485, 17888646], [17889905, 17890020], [17896127, 17896332], [17897352, 17897531], [17898007, 17898172], [17898354, 17898443], [17899343, 17899490], [17902206, 17902305], [17902408, 17902528], [17906523, 17906625], [17907655, 17907736], [17912344, 17912406], [17913007, 17913144], [17919487, 17919593], [17922878, 17922996], [17927093, 17927218], [17934244, 17934331], [17934892, 17935096]]	[[17846765, 17846880], [17847686, 17847784], [17851689, 17851842], [17860125, 17860231], [17864904, 17865030], [17876418, 17876564], [17877555, 17877693], [17881474, 17881645], [17883095, 17883176], [17884423, 17884559], [17888485, 17888646], [17889905, 17890020], [17896127, 17896332], [17897352, 17897531], [17898007, 17898172], [17898354, 17898443], [17899343, 17899490], [17902206, 17902305], [17902408, 17902528], [17906523, 17906625], [17907655, 17907736], [17912344, 17912406], [17913007, 17913144], [17919487, 17919593], [17922878, 17922996], [17927093, 17927213]]
NM_024624	[[17845078, 17846880], [17847686, 17847784], [17851689, 17851842], [17860125, 17860231], [17864904, 17865030], [17876418, 17876564], [17877555, 17877693], [17881474, 17881645], [17883095, 17883176], [17884423, 17884559], [17888485, 17888646], [17889905, 17890020], [17896127, 17896332], [17897352, 17897531], [17898007, 17898172], [17898354, 17898443], [17899343, 17899490], [17902206, 17902305], [17902408, 17902528], [17906523, 17906625], [17907655, 17907736], [17912344, 17912406], [17913007, 17913144], [17919487, 17919593], [17922878, 17922996], [17927093, 17927218], [17934892, 17935096]]	[[17846765, 17846880], [17847686, 17847784], [17851689, 17851842], [17860125, 17860231], [17864904, 17865030], [17876418, 17876564], [17877555, 17877693], [17881474, 17881645], [17883095, 17883176], [17884423, 17884559], [17888485, 17888646], [17889905, 17890020], [17896127, 17896332], [17897352, 17897531], [17898007, 17898172], [17898354, 17898443], [17899343, 17899490], [17902206, 17902305], [17902408, 17902528], [17906523, 17906625], [17907655, 17907736], [17912344, 17912406], [17913007, 17913144], [17919487, 17919593], [17922878, 17922996], [17927093, 17927213]]

Promoter

Chrom	Start	End	Description
chr2	17934975	17934984	CAGE_peak_5_at_SMC6_5end
chr2	17935027	17935053	CAGE_peak_2_at_SMC6_5end
chr2	17935059	17935102	CAGE_peak_1_at_SMC6_5end
chr2	17981577	17981584	CAGE_peak_11_at_SMC6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I017830	17830401	17831200	1.04	[{'connected_gene': 'SMC6', 'score': 12.2}, {'connected_gene': 'GEN1', 'score': 12.09}, {'connected_gene': 'GC02M017816', 'score': 0.77}, {'connected_gene': 'ZPAXP', 'score': 0.37}]
chr2	GH02I017354	17354681	17357120	0.66	[{'connected_gene': 'SMC6', 'score': 4.63}, {'connected_gene': 'GEN1', 'score': 4.57}, {'connected_gene': 'PIR41459', 'score': 0.44}, {'connected_gene': 'LOC105373447', 'score': 0.34}]
chr2	GH02I017736	17736513	17738381	0.31	[{'connected_gene': 'SMC6', 'score': 8.85}, {'connected_gene': 'GEN1', 'score': 0.37}, {'connected_gene': 'PIR36041', 'score': 0.13}]
chr2	GH02I017798	17798259	17801652	1.08	[{'connected_gene': 'SMC6', 'score': 560.25}, {'connected_gene': 'LOC105373449', 'score': 550.77}, {'connected_gene': 'GEN1', 'score': 28.74}, {'connected_gene': 'GC02M017752', 'score': 0.28}]
chr2	GH02I017302	17302575	17304127	0.43	[{'connected_gene': 'SMC6', 'score': 4.07}, {'connected_gene': 'GC02M017300', 'score': 0.37}, {'connected_gene': 'ZFYVE9P2', 'score': 0.37}]
chr2	GH02I017609	17609103	17609604	0.2	[{'connected_gene': 'VSNL1', 'score': 10.64}, {'connected_gene': 'GEN1', 'score': 9.85}, {'connected_gene': 'SMC6', 'score': 4.5}, {'connected_gene': 'PIR36041', 'score': 0.44}, {'connected_gene': 'GC02M017549', 'score': 0.22}]
chr2	GH02I017821	17821050	17823274	1.04	[{'connected_gene': 'GEN1', 'score': 17.02}, {'connected_gene': 'SMC6', 'score': 12.38}, {'connected_gene': 'GC02M017816', 'score': 0.77}, {'connected_gene': 'MSGN1', 'score': 0.44}]
chr2	GH02I017780	17780275	17781669	0.31	[{'connected_gene': 'GEN1', 'score': 24.32}, {'connected_gene': 'SMC6', 'score': 8.89}, {'connected_gene': 'GC02M017752', 'score': 0.37}, {'connected_gene': 'LOC105373449', 'score': 0.34}]
chr2	GH02I017790	17790802	17792608	0.66	[{'connected_gene': 'GEN1', 'score': 22.9}, {'connected_gene': 'SMC6', 'score': 8.88}, {'connected_gene': 'LOC105373449', 'score': 0.44}, {'connected_gene': 'GC02M017752', 'score': 0.31}]
chr2	GH02I017793	17793356	17794136	0.51	[{'connected_gene': 'GEN1', 'score': 11.69}, {'connected_gene': 'SMC6', 'score': 4.62}, {'connected_gene': 'LOC105373449', 'score': 0.44}, {'connected_gene': 'GC02M017752', 'score': 0.29}]
chr2	GH02I017749	17749943	17755877	2.02	[{'connected_gene': 'GEN1', 'score': 574.86}, {'connected_gene': 'SMC6', 'score': 558.96}, {'connected_gene': 'GC02M017752', 'score': 0.39}, {'connected_gene': 'PIR36041', 'score': 0.12}]
chr2	GH02I017756	17756394	17758600	1.05	[{'connected_gene': 'GEN1', 'score': 28.74}, {'connected_gene': 'GC02M017752', 'score': 0.44}, {'connected_gene': 'SMC6', 'score': 0.26}]
chr2	GH02I017747	17747774	17748823	0.56	[{'connected_gene': 'GEN1', 'score': 0.44}, {'connected_gene': 'SMC6', 'score': 0.23}, {'connected_gene': 'PIR36041', 'score': 0.12}]
chr2	GH02I017750	17749016	17749207	0.54	[{'connected_gene': 'GEN1', 'score': 0.77}, {'connected_gene': 'SMC6', 'score': 0.23}, {'connected_gene': 'PIR36041', 'score': 0.12}]
chr2	GH02I017759	17759689	17759748	0.73	[{'connected_gene': 'GEN1', 'score': 550.44}, {'connected_gene': 'GC02M017752', 'score': 0.77}, {'connected_gene': 'SMC6', 'score': 0.26}]
chr2	GH02I017658	17658105	17659650	0.66	[{'connected_gene': 'GEN1', 'score': 22.23}, {'connected_gene': 'SMC6', 'score': 6.1}, {'connected_gene': 'PIR36041', 'score': 0.26}]
chr2	GH02I017642	17642590	17646632	1.18	[{'connected_gene': 'GEN1', 'score': 14.65}, {'connected_gene': 'VSNL1', 'score': 10.27}, {'connected_gene': 'SMC6', 'score': 10.07}, {'connected_gene': 'PIR36041', 'score': 0.31}]
chr2	GH02I017786	17786556	17786600	0.22	[{'connected_gene': 'GEN1', 'score': 28.33}, {'connected_gene': 'MSGN1', 'score': 2.89}, {'connected_gene': 'LOC105373449', 'score': 0.39}, {'connected_gene': 'SMC6', 'score': 0.39}, {'connected_gene': 'GC02M017752', 'score': 0.34}]
chr2	GH02I017827	17827379	17827858	0.38	[{'connected_gene': 'GC02M017816', 'score': 550.77}, {'connected_gene': 'SMC6', 'score': 12.35}, {'connected_gene': 'GEN1', 'score': 11.57}, {'connected_gene': 'ZPAXP', 'score': 0.34}]