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
ENST00000525116 [[104813592, 104813700], [104815474, 104815578], [104817809, 104817919], [104819259, 104819621]] None
ENST00000444739 [[104813592, 104813700], [104815474, 104815578], [104817809, 104817919], [104819259, 104819403], [104820269, 104820504], [104821651, 104821825], [104822622, 104822732], [104825473, 104825728], [104839245, 104840163]] [[104815479, 104815578], [104817809, 104817919], [104819259, 104819403], [104820269, 104820504], [104821651, 104821825], [104822622, 104822732], [104825473, 104825728], [104839245, 104839252]]
ENST00000393150 [[104813594, 104813700], [104815474, 104815578], [104817809, 104817919], [104819259, 104819403], [104820269, 104820504], [104821651, 104821825], [104822622, 104822732], [104825473, 104825728], [104827323, 104827425]] [[104815479, 104815578], [104817809, 104817919], [104819259, 104819403], [104820269, 104820504], [104821651, 104821825], [104822622, 104822732], [104825473, 104825567]]
ENST00000533252 [[104813595, 104813700], [104817809, 104817919]] [[104813595, 104813700], [104817809, 104817919]]
ENST00000529565 [[104813596, 104815578], [104817809, 104820504], [104821651, 104821719]] None
ENST00000530309 [[104813599, 104813700], [104815474, 104815578], [104817809, 104818085]] None
ENST00000533730 [[104815479, 104815578], [104817809, 104817919], [104819259, 104819403], [104820269, 104820504], [104821651, 104821825], [104822622, 104822790], [104825473, 104825728], [104839245, 104839274]] None
ENST00000534356 [[104817350, 104817919], [104819259, 104819461]] None
ENST00000529183 [[104819328, 104819403], [104820269, 104820504], [104825473, 104825728], [104839245, 104839292]] None
ENST00000524843 [[104820128, 104820504], [104821651, 104821825], [104822622, 104822732], [104825473, 104825728], [104839245, 104839308]] None
ENST00000531333 [[104820387, 104820504], [104821651, 104821825], [104825473, 104825728], [104839245, 104839366]] None
ENST00000417440 [[104821754, 104821825], [104822622, 104822732], [104825473, 104825728], [104839245, 104839455], [104839976, 104840093]] [[104821754, 104821825], [104822622, 104822732], [104825473, 104825728], [104839245, 104839252]]
ENST00000531546 [[104822123, 104822732], [104825473, 104825728], [104839245, 104839302]] None
NM_033306 [[104813593, 104813700], [104815474, 104815578], [104817809, 104817919], [104819259, 104819403], [104820269, 104820504], [104821651, 104821825], [104822622, 104822732], [104825473, 104825728], [104827323, 104827422], [104839245, 104839259]] [[104815479, 104815578], [104817809, 104817919], [104819259, 104819403], [104820269, 104820504], [104821651, 104821825], [104822622, 104822732], [104825473, 104825567]]
NM_001225 [[104813593, 104813700], [104815474, 104815578], [104817809, 104817919], [104819259, 104819403], [104820269, 104820504], [104821651, 104821825], [104822622, 104822732], [104825473, 104825728], [104839245, 104839325]] [[104815479, 104815578], [104817809, 104817919], [104819259, 104819403], [104820269, 104820504], [104821651, 104821825], [104822622, 104822732], [104825473, 104825728], [104839245, 104839252]]
Promoter
Chrom Start End Description
chr11 104825675 104825688 CAGE_peak_2_at_CASP4_5end
chr11 104839260 104839327 CAGE_peak_1_at_CASP4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I104836 104836601 104837197 0.42 [{'connected_gene': 'CASP4', 'score': 15.09}, {'connected_gene': 'CASP5', 'score': 7.34}, {'connected_gene': 'CARD17', 'score': 7.17}, {'connected_gene': 'LOC643733', 'score': 4.58}, {'connected_gene': 'CARD16', 'score': 4.22}, {'connected_gene': 'PIR51559', 'score': 0.34}, {'connected_gene': 'ENSG00000254569', 'score': 0.28}]
chr11 GH11I104875 104875592 104877797 0.89 [{'connected_gene': 'CASP4', 'score': 11.17}, {'connected_gene': 'LOC643733', 'score': 7.16}, {'connected_gene': 'CASP5', 'score': 4.66}, {'connected_gene': 'CARD17', 'score': 2.9}, {'connected_gene': 'CARD16', 'score': 2.56}, {'connected_gene': 'ENSG00000254569', 'score': 0.77}, {'connected_gene': 'CASP12', 'score': 0.34}]
chr11 GH11I104965 104965298 104970176 2.08 [{'connected_gene': 'CASP4', 'score': 575.62}, {'connected_gene': 'LOC643733', 'score': 16.48}, {'connected_gene': 'CASP5', 'score': 11.81}, {'connected_gene': 'CASP12', 'score': 11.38}, {'connected_gene': 'CARD17', 'score': 8.49}, {'connected_gene': 'CARD16', 'score': 7.28}]
chr11 GH11I104956 104956624 104956683 1.07 [{'connected_gene': 'CASP4', 'score': 550.39}, {'connected_gene': 'LOC643733', 'score': 0.28}]
chr11 GH11I104704 104704275 104707886 1.13 [{'connected_gene': 'CASP4', 'score': 12.41}, {'connected_gene': 'CARD17', 'score': 10.26}, {'connected_gene': 'LOC643733', 'score': 6.4}, {'connected_gene': 'CARD16', 'score': 6.11}, {'connected_gene': 'LINC02552', 'score': 6.02}, {'connected_gene': 'CASP5', 'score': 5.19}, {'connected_gene': 'ENSG00000270449', 'score': 0.34}, {'connected_gene': 'PIR54951', 'score': 0.26}]
chr11 GH11I105032 105032452 105036193 2.2 [{'connected_gene': 'CASP1', 'score': 550.77}, {'connected_gene': 'CARD17', 'score': 35.46}, {'connected_gene': 'CASP4', 'score': 14.13}, {'connected_gene': 'CASP5', 'score': 13.37}, {'connected_gene': 'CARD16', 'score': 12.42}, {'connected_gene': 'CASP1P2', 'score': 4.34}]
chr11 GH11I104947 104947034 104947183 0.54 [{'connected_gene': 'LOC643733', 'score': 11.11}, {'connected_gene': 'CASP12', 'score': 11.04}, {'connected_gene': 'CASP4', 'score': 0.34}]
chr11 GH11I104914 104914774 104919132 1.08 [{'connected_gene': 'LOC643733', 'score': 7.77}, {'connected_gene': 'CASP12', 'score': 5.26}, {'connected_gene': 'CASP4', 'score': 5.24}]
chr11 GH11I105208 105208089 105208344 0.32 [{'connected_gene': 'CARD17', 'score': 24.71}, {'connected_gene': 'CASP5', 'score': 6.95}, {'connected_gene': 'CASP4', 'score': 6.35}, {'connected_gene': 'CARD16', 'score': 5.6}, {'connected_gene': 'GRIA4', 'score': 4.14}, {'connected_gene': 'GC11P105198', 'score': 0.39}, {'connected_gene': 'ENSG00000255336', 'score': 0.28}, {'connected_gene': 'LOC105369468', 'score': 0.06}]
chr11 GH11I105189 105189478 105189950 0.4 [{'connected_gene': 'CARD17', 'score': 32.58}, {'connected_gene': 'CASP5', 'score': 12.73}, {'connected_gene': 'CASP4', 'score': 9.54}, {'connected_gene': 'CARD16', 'score': 8.0}, {'connected_gene': 'GC11M105194', 'score': 0.44}, {'connected_gene': 'LOC105369469', 'score': 0.31}, {'connected_gene': 'LOC105369468', 'score': 0.05}]
chr11 GH11I105297 105297492 105297743 0.64 [{'connected_gene': 'CARD17', 'score': 9.55}, {'connected_gene': 'CASP5', 'score': 6.92}, {'connected_gene': 'CASP4', 'score': 4.72}, {'connected_gene': 'CARD16', 'score': 3.37}, {'connected_gene': 'ENSG00000255336', 'score': 0.23}, {'connected_gene': 'ENSG00000278640', 'score': 0.22}, {'connected_gene': 'LOC105369468', 'score': 0.07}]
chr11 GH11I105177 105177337 105178483 0.59 [{'connected_gene': 'CARD17', 'score': 17.85}, {'connected_gene': 'CASP5', 'score': 3.22}, {'connected_gene': 'CARD16', 'score': 2.84}, {'connected_gene': 'CASP4', 'score': 2.75}, {'connected_gene': 'LOC105369469', 'score': 0.37}, {'connected_gene': 'GC11M105194', 'score': 0.37}, {'connected_gene': 'LOC105369468', 'score': 0.05}]
chr11 GH11I105200 105200587 105204144 0.83 [{'connected_gene': 'CARD17', 'score': 5.24}, {'connected_gene': 'CASP1', 'score': 4.52}, {'connected_gene': 'CASP4', 'score': 4.24}, {'connected_gene': 'GC11P105198', 'score': 0.77}, {'connected_gene': 'ENSG00000255336', 'score': 0.26}, {'connected_gene': 'LOC105369468', 'score': 0.05}]
chr11 GH11I104688 104688810 104689033 0.27 [{'connected_gene': 'CARD17', 'score': 19.41}, {'connected_gene': 'LOC643733', 'score': 5.52}, {'connected_gene': 'CASP4', 'score': 4.5}, {'connected_gene': 'CARD16', 'score': 3.72}, {'connected_gene': 'CASP5', 'score': 2.62}, {'connected_gene': 'ENSG00000270449', 'score': 0.44}, {'connected_gene': 'LOC105369466', 'score': 0.37}, {'connected_gene': 'PIR54951', 'score': 0.22}]
chr11 GH11I105243 105243239 105246157 1.13 [{'connected_gene': 'CARD17', 'score': 8.15}, {'connected_gene': 'GRIA4', 'score': 4.19}, {'connected_gene': 'CASP1', 'score': 4.16}, {'connected_gene': 'CARD16', 'score': 2.63}, {'connected_gene': 'CASP4', 'score': 2.16}, {'connected_gene': 'CASP5', 'score': 1.44}, {'connected_gene': 'ENSG00000255336', 'score': 0.77}, {'connected_gene': 'GC11P105198', 'score': 0.25}, {'connected_gene': 'LOC105369468', 'score': 0.06}]
chr11 GH11I105039 105039150 105039205 0.23 [{'connected_gene': 'CARD17', 'score': 3.86}, {'connected_gene': 'CARD16', 'score': 3.13}, {'connected_gene': 'CASP4', 'score': 2.36}, {'connected_gene': 'CASP5', 'score': 1.97}, {'connected_gene': 'CASP1', 'score': 0.77}, {'connected_gene': 'CASP1P2', 'score': 0.29}]
chr11 GH11I105219 105219926 105220800 0.73 [{'connected_gene': 'CARD17', 'score': 15.05}, {'connected_gene': 'CARD16', 'score': 6.36}, {'connected_gene': 'CASP4', 'score': 6.16}, {'connected_gene': 'CASP5', 'score': 5.69}, {'connected_gene': 'GC11P105198', 'score': 0.34}, {'connected_gene': 'ENSG00000255336', 'score': 0.31}, {'connected_gene': 'LOC105369468', 'score': 0.05}]
chr11 GH11I104694 104694122 104695343 1.03 [{'connected_gene': 'CARD17', 'score': 16.29}, {'connected_gene': 'CASP12', 'score': 11.11}, {'connected_gene': 'LOC643733', 'score': 11.1}, {'connected_gene': 'CASP4', 'score': 3.77}, {'connected_gene': 'CARD16', 'score': 3.21}, {'connected_gene': 'CASP5', 'score': 2.39}, {'connected_gene': 'ENSG00000270449', 'score': 0.39}, {'connected_gene': 'LOC105369466', 'score': 0.34}, {'connected_gene': 'PIR54951', 'score': 0.23}]
chr11 GH11I105164 105164201 105164656 0.31 [{'connected_gene': 'LOC105369469', 'score': 550.77}, {'connected_gene': 'CARD17', 'score': 16.08}, {'connected_gene': 'CASP5', 'score': 12.55}, {'connected_gene': 'CASP4', 'score': 5.98}, {'connected_gene': 'CASP1P2', 'score': 4.13}, {'connected_gene': 'CARD16', 'score': 4.08}, {'connected_gene': 'GC11M105194', 'score': 0.29}, {'connected_gene': 'LOC105369468', 'score': 0.05}]
chr11 GH11I104934 104934486 104935299 0.31 [{'connected_gene': 'CASP12', 'score': 11.84}, {'connected_gene': 'LOC643733', 'score': 0.37}, {'connected_gene': 'CASP4', 'score': 0.29}]