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
ENST00000502506 [[19626544, 19627141], [19636833, 19637069], [19638089, 19638161], [19638509, 19638579], [19638815, 19639006]] [[19627047, 19627141], [19636833, 19637063]]
ENST00000507754 [[19626563, 19627141], [19636990, 19637069], [19638089, 19638161], [19638509, 19638579], [19638815, 19639007]] [[19627047, 19627141], [19636990, 19637069], [19638089, 19638161], [19638509, 19638579], [19638815, 19638935]]
ENST00000252576 [[19626798, 19627141], [19636990, 19637069], [19638089, 19638161], [19638509, 19638579], [19638815, 19639013]] [[19626798, 19627141], [19636990, 19637069], [19638089, 19638161], [19638509, 19638579], [19638815, 19638935]]
ENST00000503283 [[19627036, 19627141], [19636990, 19637069], [19638089, 19638161], [19638509, 19638579], [19639364, 19639863]] [[19627047, 19627141], [19636990, 19637069], [19638089, 19638161], [19638509, 19638579], [19639364, 19639412]]
ENST00000512771 [[19627037, 19627141], [19636990, 19637069], [19638089, 19638161], [19638509, 19638579], [19638815, 19638925], [19640172, 19640326], [19643440, 19643549], [19643912, 19644285]] [[19627047, 19627141], [19636990, 19637069], [19638089, 19638161], [19638509, 19638579], [19638815, 19638925], [19640172, 19640326], [19643440, 19643530]]
ENST00000511584 [[19627038, 19627141], [19636990, 19637527]] None
ENST00000428459 [[19627038, 19627141], [19636990, 19637069], [19638089, 19638161], [19638509, 19638831]] [[19627047, 19627141], [19636990, 19637069], [19638089, 19638161], [19638509, 19638717]]
ENST00000511180 [[19627049, 19627141], [19636990, 19637069], [19638089, 19638511]] None
ENST00000606722 [[19627069, 19627141], [19636990, 19637069], [19638089, 19638181], [19638509, 19638579], [19638815, 19639004]] [[19627069, 19627141], [19636990, 19637069], [19638089, 19638165]]
NM_015965 [[19627018, 19627141], [19636990, 19637069], [19638089, 19638161], [19638509, 19638579], [19638815, 19639013]] [[19627047, 19627141], [19636990, 19637069], [19638089, 19638161], [19638509, 19638579], [19638815, 19638935]]
Promoter
Chrom Start End Description
chr19 19626515 19626522 CAGE_peak_3_at_NDUFA13_5end
chr19 19626531 19626574 CAGE_peak_2_at_NDUFA13_5end
chr19 19627026 19627049 CAGE_peak_1_at_NDUFA13_5end,CAGE_peak_1_at_YJEFN3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I019514 19514592 19514741 0.43 [{'connected_gene': 'TSSK6', 'score': 550.77}, {'connected_gene': 'ENSG00000258674', 'score': 550.77}, {'connected_gene': 'NDUFA13', 'score': 550.77}, {'connected_gene': 'PIR50534', 'score': 550.77}, {'connected_gene': 'GATAD2A', 'score': 14.65}, {'connected_gene': 'GC19M019509', 'score': 0.77}]
chr19 GH19I019516 19514392 19514541 0.38 [{'connected_gene': 'TSSK6', 'score': 550.77}, {'connected_gene': 'ENSG00000258674', 'score': 550.77}, {'connected_gene': 'NDUFA13', 'score': 550.77}, {'connected_gene': 'PIR50534', 'score': 550.77}, {'connected_gene': 'GC19M019509', 'score': 0.77}]
chr19 GH19I019517 19514852 19514968 0.43 [{'connected_gene': 'TSSK6', 'score': 550.77}, {'connected_gene': 'ENSG00000258674', 'score': 550.77}, {'connected_gene': 'NDUFA13', 'score': 550.77}, {'connected_gene': 'PIR50534', 'score': 550.77}, {'connected_gene': 'GC19M019509', 'score': 0.44}]
chr19 GH19I019667 19667036 19670580 2.02 [{'connected_gene': 'ATP13A1', 'score': 566.5}, {'connected_gene': 'ZNF101', 'score': 550.77}, {'connected_gene': 'UPF1', 'score': 26.99}, {'connected_gene': 'NDUFA13', 'score': 17.57}, {'connected_gene': 'LPAR2', 'score': 16.18}, {'connected_gene': 'MAU2', 'score': 12.97}, {'connected_gene': 'BNIP3P16', 'score': 10.75}, {'connected_gene': 'ZNF90', 'score': 10.44}, {'connected_gene': 'NR2C2AP', 'score': 10.09}, {'connected_gene': 'GC19M019685', 'score': 0.34}]
chr19 GH19I019666 19666672 19666821 0.38 [{'connected_gene': 'ATP13A1', 'score': 550.77}, {'connected_gene': 'ZNF101', 'score': 550.77}, {'connected_gene': 'NDUFA13', 'score': 16.51}, {'connected_gene': 'GC19M019627', 'score': 0.39}]
chr19 GH19I019594 19594525 19603458 1.58 [{'connected_gene': 'ATP13A1', 'score': 34.0}, {'connected_gene': 'LPAR2', 'score': 20.58}, {'connected_gene': 'UPF1', 'score': 19.98}, {'connected_gene': 'GATAD2A', 'score': 17.9}, {'connected_gene': 'NR2C2AP', 'score': 15.98}, {'connected_gene': 'ZNF90', 'score': 15.27}, {'connected_gene': 'GMIP', 'score': 15.24}, {'connected_gene': 'MAU2', 'score': 13.87}, {'connected_gene': 'ENSG00000267481', 'score': 12.01}, {'connected_gene': 'BNIP3P16', 'score': 10.9}, {'connected_gene': 'MEF2B', 'score': 10.53}, {'connected_gene': 'PBX4', 'score': 5.43}, {'connected_gene': 'NDUFA13', 'score': 4.89}, {'connected_gene': 'RFXANK', 'score': 2.09}, {'connected_gene': 'ZNF14', 'score': 2.05}, {'connected_gene': 'ZNF506', 'score': 1.45}, {'connected_gene': 'ENSG00000259242', 'score': 0.44}, {'connected_gene': 'PHF5CP', 'score': 0.39}]
chr19 GH19I019661 19661144 19664800 2.04 [{'connected_gene': 'ATP13A1', 'score': 562.81}, {'connected_gene': 'NDUFA13', 'score': 16.64}, {'connected_gene': 'SUGP2', 'score': 15.16}, {'connected_gene': 'LPAR2', 'score': 13.73}, {'connected_gene': 'GC19M019627', 'score': 0.44}]
chr19 GH19I019384 19384704 19389984 2.24 [{'connected_gene': 'GATAD2A', 'score': 565.11}, {'connected_gene': 'NDUFA13', 'score': 34.09}, {'connected_gene': 'MIR640', 'score': 12.92}, {'connected_gene': 'UPF1', 'score': 11.15}, {'connected_gene': 'ELL', 'score': 10.58}, {'connected_gene': 'ENSG00000267234', 'score': 0.37}]
chr19 GH19I019402 19402800 19408068 2.56 [{'connected_gene': 'GATAD2A', 'score': 580.59}, {'connected_gene': 'NDUFA13', 'score': 36.06}, {'connected_gene': 'ENSG00000268030', 'score': 18.23}, {'connected_gene': 'UPF1', 'score': 17.7}, {'connected_gene': 'ATP13A1', 'score': 15.79}, {'connected_gene': 'ENSG00000268938', 'score': 14.69}, {'connected_gene': 'ELL', 'score': 13.68}, {'connected_gene': 'MAU2', 'score': 13.1}, {'connected_gene': 'ENSG00000269191', 'score': 12.17}, {'connected_gene': 'TM6SF2', 'score': 11.36}, {'connected_gene': 'BNIP3P16', 'score': 10.75}, {'connected_gene': 'ZNF90', 'score': 10.42}, {'connected_gene': 'NR2C2AP', 'score': 10.13}, {'connected_gene': 'YJEFN3', 'score': 4.87}, {'connected_gene': 'GMIP', 'score': 3.09}, {'connected_gene': 'HOMER3', 'score': 1.79}, {'connected_gene': 'RFXANK', 'score': 1.49}, {'connected_gene': 'ENSG00000267234', 'score': 0.77}, {'connected_gene': 'GC19P019700', 'score': 0.31}]
chr19 GH19I019456 19456515 19466015 1.63 [{'connected_gene': 'GATAD2A', 'score': 46.6}, {'connected_gene': 'NDUFA13', 'score': 36.16}, {'connected_gene': 'GMIP', 'score': 18.63}, {'connected_gene': 'MIR640', 'score': 13.29}, {'connected_gene': 'MAU2', 'score': 5.17}, {'connected_gene': 'TM6SF2', 'score': 4.01}, {'connected_gene': 'RFXANK', 'score': 3.89}, {'connected_gene': 'PBX4', 'score': 1.9}, {'connected_gene': 'ZNF14', 'score': 1.65}, {'connected_gene': 'ZNF506', 'score': 1.31}, {'connected_gene': 'PIR48619', 'score': 0.39}, {'connected_gene': 'GC19P019843', 'score': 0.31}]
chr19 GH19I019515 19515451 19517412 2.04 [{'connected_gene': 'NDUFA13', 'score': 586.7}, {'connected_gene': 'TSSK6', 'score': 550.77}, {'connected_gene': 'ENSG00000258674', 'score': 550.77}, {'connected_gene': 'PIR50534', 'score': 550.77}, {'connected_gene': 'GATAD2A', 'score': 8.01}, {'connected_gene': 'YJEFN3', 'score': 0.39}]
chr19 GH19I019391 19391601 19393399 0.79 [{'connected_gene': 'NDUFA13', 'score': 29.85}, {'connected_gene': 'MIR640', 'score': 12.93}, {'connected_gene': 'GATAD2A', 'score': 10.6}, {'connected_gene': 'TMEM161A', 'score': 4.21}, {'connected_gene': 'TM6SF2', 'score': 4.05}, {'connected_gene': 'ENSG00000267234', 'score': 0.39}]
chr19 GH19I019614 19614614 19616189 0.76 [{'connected_gene': 'NDUFA13', 'score': 18.3}, {'connected_gene': 'GATAD2A', 'score': 8.11}, {'connected_gene': 'ATP13A1', 'score': 5.1}, {'connected_gene': 'PBX4', 'score': 0.77}, {'connected_gene': 'ENSG00000259242', 'score': 0.44}]
chr19 GH19I019416 19416756 19420068 0.78 [{'connected_gene': 'NDUFA13', 'score': 36.08}, {'connected_gene': 'GATAD2A', 'score': 14.71}, {'connected_gene': 'TM6SF2', 'score': 4.04}, {'connected_gene': 'GC19P019700', 'score': 0.37}, {'connected_gene': 'ENSG00000267234', 'score': 0.37}]
chr19 GH19I019437 19437501 19439615 0.46 [{'connected_gene': 'NDUFA13', 'score': 36.11}, {'connected_gene': 'GATAD2A', 'score': 10.57}, {'connected_gene': 'TM6SF2', 'score': 4.03}, {'connected_gene': 'GC19P019843', 'score': 0.77}, {'connected_gene': 'PIR48619', 'score': 0.29}]
chr19 GH19I019420 19420477 19421784 0.89 [{'connected_gene': 'NDUFA13', 'score': 24.05}, {'connected_gene': 'GATAD2A', 'score': 10.44}, {'connected_gene': 'TM6SF2', 'score': 4.04}, {'connected_gene': 'GC19P019700', 'score': 0.39}, {'connected_gene': 'ENSG00000267234', 'score': 0.37}]
chr19 GH19I019473 19473152 19477388 1.15 [{'connected_gene': 'NDUFA13', 'score': 36.18}, {'connected_gene': 'GATAD2A', 'score': 14.69}, {'connected_gene': 'TM6SF2', 'score': 4.01}, {'connected_gene': 'PIR48619', 'score': 0.77}, {'connected_gene': 'GC19M019490', 'score': 0.31}]
chr19 GH19I019449 19449959 19453672 1.28 [{'connected_gene': 'NDUFA13', 'score': 36.14}, {'connected_gene': 'GATAD2A', 'score': 22.8}, {'connected_gene': 'GMIP', 'score': 20.22}, {'connected_gene': 'YJEFN3', 'score': 4.93}, {'connected_gene': 'MAU2', 'score': 4.92}, {'connected_gene': 'RFXANK', 'score': 2.92}, {'connected_gene': 'BORCS8', 'score': 1.86}, {'connected_gene': 'GC19P019843', 'score': 0.37}, {'connected_gene': 'PIR48619', 'score': 0.34}]
chr19 GH19I019532 19532059 19532981 0.84 [{'connected_gene': 'NDUFA13', 'score': 36.3}, {'connected_gene': 'GATAD2A', 'score': 14.33}, {'connected_gene': 'ZNF506', 'score': 11.54}, {'connected_gene': 'ZNF14', 'score': 11.11}, {'connected_gene': 'YJEFN3', 'score': 0.77}, {'connected_gene': 'GC19M019535', 'score': 0.77}, {'connected_gene': 'ENSG00000258674', 'score': 0.37}]
chr19 GH19I019443 19443653 19448599 1.3 [{'connected_gene': 'NDUFA13', 'score': 36.13}, {'connected_gene': 'GATAD2A', 'score': 14.58}, {'connected_gene': 'YJEFN3', 'score': 4.92}, {'connected_gene': 'LINC00663', 'score': 4.33}, {'connected_gene': 'GC19P019843', 'score': 0.39}, {'connected_gene': 'PIR48619', 'score': 0.31}]
chr19 GH19I019408 19408617 19411803 0.92 [{'connected_gene': 'NDUFA13', 'score': 32.6}, {'connected_gene': 'GATAD2A', 'score': 14.71}, {'connected_gene': 'LINC00663', 'score': 4.26}, {'connected_gene': 'TM6SF2', 'score': 4.05}, {'connected_gene': 'ENSG00000267234', 'score': 0.44}, {'connected_gene': 'GC19P019700', 'score': 0.34}]
chr19 GH19I019539 19539584 19542062 0.92 [{'connected_gene': 'NDUFA13', 'score': 36.28}, {'connected_gene': 'GATAD2A', 'score': 9.45}, {'connected_gene': 'CILP2', 'score': 0.77}, {'connected_gene': 'GC19M019560', 'score': 0.37}]
chr19 GH19I019366 19366387 19367561 1.44 [{'connected_gene': 'NDUFA13', 'score': 36.04}, {'connected_gene': 'GATAD2A', 'score': 12.38}, {'connected_gene': 'SUGP2', 'score': 11.52}, {'connected_gene': 'LPAR2', 'score': 4.4}, {'connected_gene': 'GC19P020007', 'score': 0.44}, {'connected_gene': 'PIR49867', 'score': 0.44}, {'connected_gene': 'GC19P020224', 'score': 0.37}]
chr19 GH19I019360 19360692 19361670 1.27 [{'connected_gene': 'NDUFA13', 'score': 25.62}, {'connected_gene': 'GATAD2A', 'score': 13.84}, {'connected_gene': 'GC19P020007', 'score': 0.77}, {'connected_gene': 'PIR49867', 'score': 0.77}, {'connected_gene': 'GC19P020252', 'score': 0.44}, {'connected_gene': 'GC19P020224', 'score': 0.34}]
chr19 GH19I019370 19370569 19373839 1.28 [{'connected_gene': 'NDUFA13', 'score': 35.01}, {'connected_gene': 'GATAD2A', 'score': 14.61}, {'connected_gene': 'GC19P020224', 'score': 0.39}, {'connected_gene': 'GC19P020007', 'score': 0.37}, {'connected_gene': 'PIR49867', 'score': 0.37}]
chr19 GH19I019393 19393794 19395621 1.25 [{'connected_gene': 'NDUFA13', 'score': 37.07}, {'connected_gene': 'GATAD2A', 'score': 10.57}, {'connected_gene': 'ENSG00000267234', 'score': 0.44}]
chr19 GH19I019275 19275837 19277807 0.31 [{'connected_gene': 'NDUFA13', 'score': 29.62}, {'connected_gene': 'TM6SF2', 'score': 14.7}, {'connected_gene': 'GATAD2A', 'score': 13.85}, {'connected_gene': 'MAU2', 'score': 7.67}, {'connected_gene': 'GC19M019307', 'score': 0.29}, {'connected_gene': 'SUGP1', 'score': 0.26}]
chr19 GH19I019480 19480349 19481959 0.49 [{'connected_gene': 'NDUFA13', 'score': 36.22}, {'connected_gene': 'TM6SF2', 'score': 4.01}, {'connected_gene': 'PIR48619', 'score': 0.44}, {'connected_gene': 'GC19M019490', 'score': 0.34}, {'connected_gene': 'GATAD2A', 'score': 0.15}]
chr19 GH19I019454 19454289 19455266 0.2 [{'connected_gene': 'NDUFA13', 'score': 36.14}, {'connected_gene': 'TM6SF2', 'score': 4.28}, {'connected_gene': 'PIR48619', 'score': 0.37}, {'connected_gene': 'GC19P019843', 'score': 0.37}, {'connected_gene': 'GATAD2A', 'score': 0.2}]
chr19 GH19I019380 19380172 19380321 0.31 [{'connected_gene': 'NDUFA13', 'score': 35.93}, {'connected_gene': 'GC19P020224', 'score': 0.77}, {'connected_gene': 'GC19P020007', 'score': 0.34}, {'connected_gene': 'PIR49867', 'score': 0.34}]
chr19 GH19I019260 19260376 19262588 0.92 [{'connected_gene': 'HAPLN4', 'score': 550.77}, {'connected_gene': 'NR2C2AP', 'score': 30.03}, {'connected_gene': 'ZNF90', 'score': 24.43}, {'connected_gene': 'ENSG00000268030', 'score': 24.27}, {'connected_gene': 'NDUFA13', 'score': 23.39}, {'connected_gene': 'ATP13A1', 'score': 16.6}, {'connected_gene': 'IQCN', 'score': 14.35}, {'connected_gene': 'MAU2', 'score': 14.34}, {'connected_gene': 'UPF1', 'score': 13.52}, {'connected_gene': 'ENSG00000267481', 'score': 11.48}, {'connected_gene': 'TMEM161A', 'score': 11.16}, {'connected_gene': 'ZNF93', 'score': 9.66}, {'connected_gene': 'ENSG00000280282', 'score': 0.44}, {'connected_gene': 'ENSG00000267629', 'score': 0.39}]
chr19 GH19I019528 19528862 19528921 0.68 [{'connected_gene': 'YJEFN3', 'score': 550.77}, {'connected_gene': 'GC19M019535', 'score': 0.44}, {'connected_gene': 'ENSG00000258674', 'score': 0.39}, {'connected_gene': 'NDUFA13', 'score': 0.39}]
chr19 GH19I019536 19536810 19539373 1.43 [{'connected_gene': 'CILP2', 'score': 550.77}, {'connected_gene': 'GC19M019535', 'score': 550.77}, {'connected_gene': 'NDUFA13', 'score': 36.3}, {'connected_gene': 'GATAD2A', 'score': 14.51}, {'connected_gene': 'YJEFN3', 'score': 0.44}]
chr19 GH19I019434 19434312 19435322 0.76 [{'connected_gene': 'GC19P019700', 'score': 550.77}, {'connected_gene': 'GC19P019843', 'score': 550.77}, {'connected_gene': 'MIR640', 'score': 550.77}, {'connected_gene': 'NDUFA13', 'score': 36.1}, {'connected_gene': 'GATAD2A', 'score': 14.62}, {'connected_gene': 'ENSG00000267234', 'score': 0.29}]
chr19 GH19I019271 19271784 19274019 1.65 [{'connected_gene': 'ENSG00000267629', 'score': 550.77}, {'connected_gene': 'TM6SF2', 'score': 550.77}, {'connected_gene': 'NDUFA13', 'score': 23.39}, {'connected_gene': 'GATAD2A', 'score': 13.6}, {'connected_gene': 'MAU2', 'score': 9.38}, {'connected_gene': 'HAPLN4', 'score': 0.39}]
chr19 GH19I019274 19274374 19275820 0.56 [{'connected_gene': 'ENSG00000267629', 'score': 550.77}, {'connected_gene': 'TM6SF2', 'score': 550.77}, {'connected_gene': 'NDUFA13', 'score': 16.35}, {'connected_gene': 'GATAD2A', 'score': 13.6}, {'connected_gene': 'GC19M019307', 'score': 0.29}]
chr19 GH19I019358 19358083 19359173 0.2 [{'connected_gene': 'GC19P020007', 'score': 550.77}, {'connected_gene': 'PIR49867', 'score': 550.77}, {'connected_gene': 'NDUFA13', 'score': 20.74}, {'connected_gene': 'MAU2', 'score': 8.53}, {'connected_gene': 'GC19P020252', 'score': 0.44}, {'connected_gene': 'GC19P020224', 'score': 0.34}]

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