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
ENST00000418988 [[14526609, 14526794], [14529201, 14529312], [14532417, 14532497], [14535115, 14535245], [14535362, 14535433], [14535948, 14536037], [14539187, 14539291], [14539425, 14539527], [14540542, 14540587], [14632511, 14632697], [14665000, 14665163]] [[14526737, 14526794], [14529201, 14529312], [14532417, 14532497], [14535115, 14535245], [14535362, 14535433], [14535948, 14536037], [14539187, 14539291], [14539425, 14539527], [14540542, 14540587], [14632511, 14632532]]
ENST00000419365 [[14515328, 14515357], [14515755, 14515985], [14520383, 14520531], [14526702, 14526794], [14529201, 14529312], [14532417, 14532497], [14535115, 14535245], [14535935, 14536037], [14539187, 14539291], [14539425, 14539527], [14540542, 14540587], [14541842, 14541890]] [[14532488, 14532497], [14535115, 14535245], [14535935, 14536037], [14539187, 14539291], [14539425, 14539527], [14540542, 14540587], [14541842, 14541845]]
ENST00000524606 [[14526419, 14526794], [14529201, 14529312], [14532417, 14532577]] None
ENST00000396394 [[14526421, 14526794], [14529201, 14529312], [14532417, 14532497], [14535115, 14535245], [14535362, 14535433], [14535948, 14536037], [14539187, 14539291], [14539425, 14539527], [14540542, 14540587], [14541842, 14542242]] [[14526737, 14526794], [14529201, 14529312], [14532417, 14532497], [14535115, 14535245], [14535362, 14535433], [14535948, 14536037], [14539187, 14539291], [14539425, 14539527], [14540542, 14540587], [14541842, 14541845]]
ENST00000396393 [[14526422, 14526794], [14529201, 14529312], [14532417, 14532497], [14535115, 14535245], [14535362, 14535433], [14535948, 14536037], [14539187, 14539291], [14539425, 14539527], [14540542, 14540587], [14540758, 14540761]] [[14526737, 14526794], [14529201, 14529312], [14532417, 14532497], [14535115, 14535245], [14535362, 14535433], [14535948, 14536037], [14539187, 14539291], [14539425, 14539527], [14540542, 14540587], [14540758, 14540761]]
ENST00000530457 [[14526458, 14526794], [14529201, 14529312], [14532417, 14532497], [14535115, 14535245], [14535362, 14535433], [14535948, 14536037], [14539187, 14539291], [14539425, 14539527], [14540542, 14540587], [14541450, 14541909]] [[14526737, 14526794], [14529201, 14529312], [14532417, 14532497], [14535115, 14535245], [14535362, 14535433], [14535948, 14536037], [14539187, 14539291], [14539425, 14539500]]
ENST00000528307 [[14526469, 14526794], [14532417, 14532497], [14535362, 14536037], [14539187, 14539291], [14539425, 14539527], [14540542, 14540587], [14541842, 14541905]] None
ENST00000527632 [[14529132, 14529312], [14532417, 14532497], [14535115, 14535548]] None
ENST00000531023 [[14532459, 14532497], [14535115, 14535245], [14535362, 14535839]] None
ENST00000533331 [[14535005, 14535245], [14539187, 14539291], [14539425, 14539527], [14540542, 14540587], [14541842, 14541926]] None
ENST00000529524 [[14535209, 14535245], [14535362, 14536037], [14539187, 14539219]] None
ENST00000531156 [[14535860, 14536037], [14539187, 14539291], [14539425, 14539527], [14540542, 14540587], [14541738, 14541884]] None
ENST00000526443 [[14535887, 14536037], [14539187, 14539291], [14539425, 14539527], [14540542, 14540587], [14541450, 14541618]] None
ENST00000533068 [[14539457, 14539527], [14540542, 14540587], [14541450, 14541757], [14541842, 14541991]] [[14539457, 14539500]]
ENST00000532256 [[14539494, 14539527], [14540542, 14540587], [14541418, 14541928]] [[14539494, 14539500]]
ENST00000528018 [[14632399, 14632697], [14665000, 14665181]] None
NM_148976 [[14526421, 14526794], [14529201, 14529312], [14532417, 14532497], [14535115, 14535245], [14535362, 14535433], [14535948, 14536037], [14539187, 14539291], [14539425, 14539527], [14540542, 14540587], [14632511, 14632697], [14665000, 14665180]] [[14526737, 14526794], [14529201, 14529312], [14532417, 14532497], [14535115, 14535245], [14535362, 14535433], [14535948, 14536037], [14539187, 14539291], [14539425, 14539527], [14540542, 14540587], [14632511, 14632532]]
NM_002786 [[14526421, 14526794], [14529201, 14529312], [14532417, 14532497], [14535115, 14535245], [14535362, 14535433], [14535948, 14536037], [14539187, 14539291], [14539425, 14539527], [14540542, 14540587], [14541842, 14541991]] [[14526737, 14526794], [14529201, 14529312], [14532417, 14532497], [14535115, 14535245], [14535362, 14535433], [14535948, 14536037], [14539187, 14539291], [14539425, 14539527], [14540542, 14540587], [14541842, 14541845]]
NM_001143937 [[14535511, 14536037], [14539187, 14539291], [14539425, 14539527], [14540542, 14540587], [14541842, 14541991]] [[14535898, 14536037], [14539187, 14539291], [14539425, 14539527], [14540542, 14540587], [14541842, 14541845]]
Promoter
Chrom Start End Description
chr11 14541249 14541265 CAGE_peak_9_at_PSMA1_5end
chr11 14541581 14541623 CAGE_peak_3_at_PSMA1_5end
chr11 14541680 14541712 CAGE_peak_4_at_PSMA1_5end
chr11 14541872 14541956 CAGE_peak_1_at_PSMA1_5end
chr11 14665170 14665221 CAGE_peak_2_at_PSMA1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I014638 14638608 14640877 0.43 [{'connected_gene': 'CALCP', 'score': 10.1}, {'connected_gene': 'CALCB', 'score': 10.1}, {'connected_gene': 'COPB1', 'score': 5.78}, {'connected_gene': 'PSMA1', 'score': 0.77}, {'connected_gene': 'PIR39085', 'score': 0.28}]
chr11 GH11I014635 14635675 14636815 0.51 [{'connected_gene': 'CALCB', 'score': 10.24}, {'connected_gene': 'CALCP', 'score': 10.23}, {'connected_gene': 'CYP2R1', 'score': 9.71}, {'connected_gene': 'PSMA1', 'score': 0.44}, {'connected_gene': 'PIR39085', 'score': 0.28}]
chr11 GH11I014764 14764176 14765944 1.13 [{'connected_gene': 'PSMA1', 'score': 11.78}, {'connected_gene': 'PDE3B', 'score': 11.78}, {'connected_gene': 'MORF4L1P3', 'score': 0.16}, {'connected_gene': 'GC11P014892', 'score': 0.13}]
chr11 GH11I014668 14668016 14671961 0.82 [{'connected_gene': 'PSMA1', 'score': 11.54}, {'connected_gene': 'PDE3B', 'score': 11.54}, {'connected_gene': 'COPB1', 'score': 6.51}, {'connected_gene': 'MORF4L1P3', 'score': 0.77}]
chr11 GH11I014642 14642378 14646744 2.2 [{'connected_gene': 'PSMA1', 'score': 550.77}, {'connected_gene': 'PDE3B', 'score': 550.77}, {'connected_gene': 'COPB1', 'score': 17.78}, {'connected_gene': 'MORF4L1P3', 'score': 0.31}]
chr11 GH11I014540 14540001 14540800 0.85 [{'connected_gene': 'PSMA1', 'score': 12.15}, {'connected_gene': 'PDE3B', 'score': 12.15}, {'connected_gene': 'COPB1', 'score': 11.25}, {'connected_gene': 'RRAS2', 'score': 4.22}, {'connected_gene': 'ENSG00000256206', 'score': 0.34}, {'connected_gene': 'PIR39085', 'score': 0.22}]
chr11 GH11I014536 14536802 14538799 1.1 [{'connected_gene': 'PSMA1', 'score': 13.29}, {'connected_gene': 'PDE3B', 'score': 12.15}, {'connected_gene': 'COPB1', 'score': 11.27}, {'connected_gene': 'ENSG00000256206', 'score': 0.37}, {'connected_gene': 'PIR39085', 'score': 0.21}]
chr11 GH11I014541 14541002 14542000 0.91 [{'connected_gene': 'PSMA1', 'score': 12.15}, {'connected_gene': 'PDE3B', 'score': 12.15}, {'connected_gene': 'COPB1', 'score': 11.25}, {'connected_gene': 'ENSG00000256206', 'score': 0.34}, {'connected_gene': 'PIR39085', 'score': 0.22}]
chr11 GH11I014618 14618913 14620897 1.06 [{'connected_gene': 'PSMA1', 'score': 11.75}, {'connected_gene': 'PDE3B', 'score': 11.75}, {'connected_gene': 'COPB1', 'score': 6.18}, {'connected_gene': 'PIR39085', 'score': 0.37}]
chr11 GH11I014617 14617204 14618613 0.87 [{'connected_gene': 'PSMA1', 'score': 11.72}, {'connected_gene': 'PDE3B', 'score': 11.72}, {'connected_gene': 'COPB1', 'score': 6.61}, {'connected_gene': 'PIR39085', 'score': 0.37}]
chr11 GH11I014543 14543376 14543587 0.27 [{'connected_gene': 'PSMA1', 'score': 13.1}, {'connected_gene': 'PDE3B', 'score': 11.87}, {'connected_gene': 'ENSG00000256206', 'score': 0.34}, {'connected_gene': 'PIR39085', 'score': 0.22}]
chr11 GH11I014542 14542201 14543200 0.2 [{'connected_gene': 'PSMA1', 'score': 11.87}, {'connected_gene': 'PDE3B', 'score': 11.87}, {'connected_gene': 'ENSG00000256206', 'score': 0.34}, {'connected_gene': 'PIR39085', 'score': 0.22}]
chr11 GH11I014566 14566179 14567528 0.59 [{'connected_gene': 'PSMA1', 'score': 11.02}, {'connected_gene': 'PDE3B', 'score': 11.02}, {'connected_gene': 'PIR39085', 'score': 0.29}, {'connected_gene': 'ENSG00000256206', 'score': 0.25}]
chr11 GH11I014544 14544001 14545001 0.98 [{'connected_gene': 'PSMA1', 'score': 11.88}, {'connected_gene': 'PDE3B', 'score': 11.88}, {'connected_gene': 'ENSG00000256206', 'score': 0.34}, {'connected_gene': 'PIR39085', 'score': 0.22}]
chr11 GH11I014611 14611601 14612224 0.6 [{'connected_gene': 'PSMA1', 'score': 11.92}, {'connected_gene': 'PDE3B', 'score': 11.92}, {'connected_gene': 'PIR39085', 'score': 0.39}]
chr11 GH11I014612 14612715 14612864 0.8 [{'connected_gene': 'PSMA1', 'score': 11.92}, {'connected_gene': 'PDE3B', 'score': 11.92}, {'connected_gene': 'PIR39085', 'score': 0.39}]
chr11 GH11I014613 14612955 14613104 0.49 [{'connected_gene': 'PSMA1', 'score': 11.92}, {'connected_gene': 'PDE3B', 'score': 11.92}, {'connected_gene': 'PIR39085', 'score': 0.39}]
chr11 GH11I014518 14518458 14521413 2.08 [{'connected_gene': 'PSMA1', 'score': 560.54}, {'connected_gene': 'ENSG00000256206', 'score': 550.77}, {'connected_gene': 'COPB1', 'score': 36.56}, {'connected_gene': 'CYP2R1', 'score': 9.91}, {'connected_gene': 'SPON1', 'score': 8.83}, {'connected_gene': 'RRAS2', 'score': 6.03}]
chr11 GH11I014577 14577316 14581043 1.42 [{'connected_gene': 'PDE3B', 'score': 14.02}, {'connected_gene': 'PSMA1', 'score': 3.82}, {'connected_gene': 'CYP2R1', 'score': 1.86}, {'connected_gene': 'PIR39085', 'score': 0.34}, {'connected_gene': 'ENSG00000256206', 'score': 0.22}]
chr11 GH11I014672 14672109 14674217 0.31 [{'connected_gene': 'MORF4L1P3', 'score': 550.77}, {'connected_gene': 'PSMA1', 'score': 11.54}, {'connected_gene': 'PDE3B', 'score': 11.54}, {'connected_gene': 'CALCB', 'score': 4.94}, {'connected_gene': 'COPB1', 'score': 4.75}]
chr11 GH11I014625 14625001 14626704 0.71 [{'connected_gene': 'COPB1', 'score': 5.96}, {'connected_gene': 'PSMA1', 'score': 0.37}, {'connected_gene': 'PIR39085', 'score': 0.31}]
chr11 GH11I014587 14587201 14587600 0.2 [{'connected_gene': 'PIR39085', 'score': 0.39}, {'connected_gene': 'PSMA1', 'score': 0.22}, {'connected_gene': 'ENSG00000256206', 'score': 0.2}]
chr11 GH11I014589 14589555 14589704 0.49 [{'connected_gene': 'PIR39085', 'score': 0.39}, {'connected_gene': 'PSMA1', 'score': 0.23}, {'connected_gene': 'ENSG00000256206', 'score': 0.2}]
chr11 GH11I014554 14554275 14556327 0.76 [{'connected_gene': 'ENSG00000256206', 'score': 0.29}, {'connected_gene': 'PIR39085', 'score': 0.26}, {'connected_gene': 'PSMA1', 'score': 0.17}]
chr11 GH11I014582 14582880 14585852 1.09 [{'connected_gene': 'PIR39085', 'score': 0.37}, {'connected_gene': 'PSMA1', 'score': 0.22}, {'connected_gene': 'ENSG00000256206', 'score': 0.21}]
chr11 GH11I014588 14588796 14589213 0.31 [{'connected_gene': 'PIR39085', 'score': 0.39}, {'connected_gene': 'PSMA1', 'score': 0.23}, {'connected_gene': 'ENSG00000256206', 'score': 0.2}]
chr11 GH11I014614 14614181 14614400 0.42 [{'connected_gene': 'PIR39085', 'score': 0.39}, {'connected_gene': 'PSMA1', 'score': 0.31}]

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