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
ENST00000511601 [[153857503, 153857561], [153864079, 153864707], [153874650, 153874712], [153875368, 153875471], [153881716, 153881802], [153881895, 153881996], [153883965, 153884036], [153884174, 153884282], [153886056, 153886127], [153889131, 153889249], [153893528, 153893693], [153895826, 153900838]] [[153864209, 153864707], [153874650, 153874712], [153875368, 153875471], [153881716, 153881802], [153881895, 153881996], [153883965, 153884036], [153884174, 153884282], [153886056, 153886127], [153889131, 153889249], [153893528, 153893693], [153895826, 153897875]]
ENST00000260008 [[153864134, 153864707], [153874650, 153874712], [153875368, 153875471], [153881716, 153881802], [153881895, 153881996], [153883965, 153884036], [153884174, 153884282], [153886056, 153886127], [153889131, 153889249], [153893528, 153893693], [153895826, 153900848]] [[153864209, 153864707], [153874650, 153874712], [153875368, 153875471], [153881716, 153881802], [153881895, 153881996], [153883965, 153884036], [153884174, 153884282], [153886056, 153886127], [153889131, 153889249], [153893528, 153893693], [153895826, 153897875]]
NM_033393 [[153864134, 153864707], [153874650, 153874712], [153875368, 153875471], [153881716, 153881802], [153881895, 153881996], [153883965, 153884036], [153884174, 153884282], [153886056, 153886127], [153889131, 153889249], [153893528, 153893693], [153895826, 153900848]] [[153864209, 153864707], [153874650, 153874712], [153875368, 153875471], [153881716, 153881802], [153881895, 153881996], [153883965, 153884036], [153884174, 153884282], [153886056, 153886127], [153889131, 153889249], [153893528, 153893693], [153895826, 153897875]]
Promoter
Chrom Start End Description
chr4 153857031 153857047 CAGE_peak_3_at_FHDC1_5end
chr4 153857468 153857520 CAGE_peak_1_at_FHDC1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I152953 152953898 152959507 1.4 [{'connected_gene': 'FHDC1', 'score': 22.39}, {'connected_gene': 'RNF175', 'score': 8.92}, {'connected_gene': 'ARFIP1', 'score': 7.71}, {'connected_gene': 'TRIM2', 'score': 1.38}, {'connected_gene': 'PIR52121', 'score': 0.44}, {'connected_gene': 'GC04P152944', 'score': 0.39}, {'connected_gene': 'GC04P152946', 'score': 0.39}, {'connected_gene': 'GC04P152943', 'score': 0.39}, {'connected_gene': 'GC04P152945', 'score': 0.39}]
chr4 GH04I152848 152848815 152851747 0.89 [{'connected_gene': 'FHDC1', 'score': 11.32}, {'connected_gene': 'GC04P152882', 'score': 0.29}, {'connected_gene': 'GC04M152803', 'score': 0.29}, {'connected_gene': 'ARFIP1', 'score': 0.19}]
chr4 GH04I153079 153079957 153080306 0.66 [{'connected_gene': 'FHDC1', 'score': 19.16}, {'connected_gene': 'TMEM131L', 'score': 2.63}, {'connected_gene': 'GC04P153071', 'score': 0.44}, {'connected_gene': 'GC04P153070', 'score': 0.44}, {'connected_gene': 'ENSG00000249022', 'score': 0.25}, {'connected_gene': 'TRIM2', 'score': 0.19}]
chr4 GH04I152979 152979612 152984818 0.83 [{'connected_gene': 'FHDC1', 'score': 11.57}, {'connected_gene': 'PIR52121', 'score': 0.37}, {'connected_gene': 'GC04P152944', 'score': 0.28}, {'connected_gene': 'GC04P152946', 'score': 0.28}, {'connected_gene': 'GC04P152945', 'score': 0.28}, {'connected_gene': 'GC04P152943', 'score': 0.28}, {'connected_gene': 'ENSG00000249022', 'score': 0.23}]
chr4 GH04I153062 153062553 153068480 1.23 [{'connected_gene': 'FHDC1', 'score': 10.52}, {'connected_gene': 'GC04P153072', 'score': 0.44}, {'connected_gene': 'ENSG00000249022', 'score': 0.29}]
chr4 GH04I153000 152999492 152999653 0.58 [{'connected_gene': 'FHDC1', 'score': 10.66}, {'connected_gene': 'ENSG00000249022', 'score': 0.29}, {'connected_gene': 'PIR52121', 'score': 0.28}, {'connected_gene': 'GC04P152944', 'score': 0.22}, {'connected_gene': 'GC04P152946', 'score': 0.22}, {'connected_gene': 'GC04P152945', 'score': 0.22}, {'connected_gene': 'GC04P152943', 'score': 0.22}]
chr4 GH04I152994 152994723 152999125 0.85 [{'connected_gene': 'FHDC1', 'score': 10.88}, {'connected_gene': 'PIR52121', 'score': 0.29}, {'connected_gene': 'ENSG00000249022', 'score': 0.28}, {'connected_gene': 'GC04P152944', 'score': 0.23}, {'connected_gene': 'GC04P152946', 'score': 0.23}, {'connected_gene': 'GC04P152945', 'score': 0.23}, {'connected_gene': 'GC04P152943', 'score': 0.23}]
chr4 GH04I152989 152989449 152989598 0.4 [{'connected_gene': 'FHDC1', 'score': 11.56}, {'connected_gene': 'PIR52121', 'score': 0.31}, {'connected_gene': 'ENSG00000249022', 'score': 0.26}, {'connected_gene': 'GC04P152944', 'score': 0.25}, {'connected_gene': 'GC04P152946', 'score': 0.25}, {'connected_gene': 'GC04P152945', 'score': 0.25}, {'connected_gene': 'GC04P152943', 'score': 0.25}]
chr4 GH04I152990 152990869 152991038 0.88 [{'connected_gene': 'FHDC1', 'score': 11.56}, {'connected_gene': 'PIR52121', 'score': 0.31}, {'connected_gene': 'ENSG00000249022', 'score': 0.26}, {'connected_gene': 'GC04P152944', 'score': 0.25}, {'connected_gene': 'GC04P152946', 'score': 0.25}, {'connected_gene': 'GC04P152945', 'score': 0.25}, {'connected_gene': 'GC04P152943', 'score': 0.25}]
chr4 GH04I152999 152999849 152999998 0.4 [{'connected_gene': 'FHDC1', 'score': 10.66}, {'connected_gene': 'ENSG00000249022', 'score': 0.29}, {'connected_gene': 'PIR52121', 'score': 0.28}, {'connected_gene': 'GC04P152944', 'score': 0.22}, {'connected_gene': 'GC04P152946', 'score': 0.22}, {'connected_gene': 'GC04P152945', 'score': 0.22}, {'connected_gene': 'GC04P152943', 'score': 0.22}]
chr4 GH04I152969 152969688 152971694 0.74 [{'connected_gene': 'FHDC1', 'score': 11.13}, {'connected_gene': 'PIR52121', 'score': 0.44}, {'connected_gene': 'GC04P152944', 'score': 0.31}, {'connected_gene': 'GC04P152946', 'score': 0.31}, {'connected_gene': 'GC04P152945', 'score': 0.31}, {'connected_gene': 'GC04P152943', 'score': 0.31}, {'connected_gene': 'ENSG00000249022', 'score': 0.21}]
chr4 GH04I153003 153003557 153006507 0.43 [{'connected_gene': 'FHDC1', 'score': 10.39}, {'connected_gene': 'ENSG00000249022', 'score': 0.31}, {'connected_gene': 'PIR52121', 'score': 0.26}, {'connected_gene': 'GC04P152944', 'score': 0.21}, {'connected_gene': 'GC04P152946', 'score': 0.21}, {'connected_gene': 'GC04P152945', 'score': 0.21}, {'connected_gene': 'GC04P152943', 'score': 0.21}]
chr4 GH04I152991 152991267 152993056 0.84 [{'connected_gene': 'FHDC1', 'score': 11.55}, {'connected_gene': 'PIR52121', 'score': 0.31}, {'connected_gene': 'ENSG00000249022', 'score': 0.26}, {'connected_gene': 'GC04P152944', 'score': 0.25}, {'connected_gene': 'GC04P152946', 'score': 0.25}, {'connected_gene': 'GC04P152945', 'score': 0.25}, {'connected_gene': 'GC04P152943', 'score': 0.25}]
chr4 GH04I153038 153038889 153039038 0.79 [{'connected_gene': 'FHDC1', 'score': 10.66}, {'connected_gene': 'ENSG00000249022', 'score': 0.77}, {'connected_gene': 'GC04P153072', 'score': 0.29}, {'connected_gene': 'GC04P152943', 'score': 0.15}]
chr4 GH04I152968 152968949 152969098 0.63 [{'connected_gene': 'FHDC1', 'score': 10.91}, {'connected_gene': 'PIR52121', 'score': 0.44}, {'connected_gene': 'GC04P152944', 'score': 0.31}, {'connected_gene': 'GC04P152946', 'score': 0.31}, {'connected_gene': 'GC04P152945', 'score': 0.31}, {'connected_gene': 'GC04P152943', 'score': 0.31}, {'connected_gene': 'ENSG00000249022', 'score': 0.2}]
chr4 GH04I152972 152972191 152974590 1.07 [{'connected_gene': 'FHDC1', 'score': 11.46}, {'connected_gene': 'PIR52121', 'score': 0.39}, {'connected_gene': 'GC04P152944', 'score': 0.31}, {'connected_gene': 'GC04P152946', 'score': 0.31}, {'connected_gene': 'GC04P152945', 'score': 0.31}, {'connected_gene': 'GC04P152943', 'score': 0.31}, {'connected_gene': 'ENSG00000249022', 'score': 0.21}]
chr4 GH04I153142 153142549 153145341 1.32 [{'connected_gene': 'MND1', 'score': 10.7}, {'connected_gene': 'FHDC1', 'score': 10.27}, {'connected_gene': 'RNF175', 'score': 9.56}, {'connected_gene': 'TRIM2', 'score': 9.16}, {'connected_gene': 'GC04P153071', 'score': 0.19}, {'connected_gene': 'GC04P153070', 'score': 0.19}]
chr4 GH04I152939 152939801 152940000 0.38 [{'connected_gene': 'LOC729870', 'score': 550.77}, {'connected_gene': 'GC04P152943', 'score': 0.77}, {'connected_gene': 'FHDC1', 'score': 0.31}]
chr4 GH04I152938 152938989 152939035 0.31 [{'connected_gene': 'LOC729870', 'score': 550.77}, {'connected_gene': 'ARFIP1', 'score': 36.36}, {'connected_gene': 'GC04P152943', 'score': 0.77}, {'connected_gene': 'FHDC1', 'score': 0.31}]
chr4 GH04I152934 152934766 152938834 1.86 [{'connected_gene': 'LOC729870', 'score': 550.77}, {'connected_gene': 'ARFIP1', 'score': 29.39}, {'connected_gene': 'MIR4453HG', 'score': 10.48}, {'connected_gene': 'TRIM2', 'score': 3.07}, {'connected_gene': 'FHDC1', 'score': 3.0}, {'connected_gene': 'FAM192BP', 'score': 0.44}]
chr4 GH04I152949 152949610 152952398 0.96 [{'connected_gene': 'ARFIP1', 'score': 20.46}, {'connected_gene': 'GC04P152944', 'score': 0.44}, {'connected_gene': 'GC04P152946', 'score': 0.44}, {'connected_gene': 'GC04P152945', 'score': 0.44}, {'connected_gene': 'GC04P152943', 'score': 0.44}, {'connected_gene': 'PIR52121', 'score': 0.39}, {'connected_gene': 'FHDC1', 'score': 0.28}]
chr4 GH04I152892 152892243 152893852 0.2 [{'connected_gene': 'ARFIP1', 'score': 32.1}, {'connected_gene': 'GC04M152863', 'score': 0.44}, {'connected_gene': 'GC04P152882', 'score': 0.39}, {'connected_gene': 'FHDC1', 'score': 0.37}]
chr4 GH04I153210 153210172 153213589 0.57 [{'connected_gene': 'TRIM2', 'score': 31.25}, {'connected_gene': 'RNU6-1196P', 'score': 11.28}, {'connected_gene': 'ENSG00000201786', 'score': 11.27}, {'connected_gene': 'FHDC1', 'score': 9.69}, {'connected_gene': 'GC04M153170', 'score': 0.37}, {'connected_gene': 'LOC105377496', 'score': 0.28}]
chr4 GH04I153216 153216065 153217852 0.31 [{'connected_gene': 'TRIM2', 'score': 33.39}, {'connected_gene': 'RNU6-1196P', 'score': 11.22}, {'connected_gene': 'ENSG00000201786', 'score': 11.2}, {'connected_gene': 'FHDC1', 'score': 9.5}, {'connected_gene': 'GC04M153170', 'score': 0.34}, {'connected_gene': 'LOC105377496', 'score': 0.29}]
chr4 GH04I152926 152926390 152927698 0.31 [{'connected_gene': 'FAM192BP', 'score': 550.77}, {'connected_gene': 'FHDC1', 'score': 0.37}]
chr4 GH04I152924 152924669 152924982 0.2 [{'connected_gene': 'FAM192BP', 'score': 0.77}, {'connected_gene': 'FHDC1', 'score': 0.39}]
chr4 GH04I152010 152010173 152012084 0.73 [{'connected_gene': 'LINC02273', 'score': 6.93}, {'connected_gene': 'ENSG00000249818', 'score': 6.41}, {'connected_gene': 'FHDC1', 'score': 5.77}, {'connected_gene': 'GC04P152008', 'score': 0.77}, {'connected_gene': 'PIR40553', 'score': 0.34}]
chr4 GH04I152961 152961144 152961640 0.43 [{'connected_gene': 'PIR52121', 'score': 550.77}, {'connected_gene': 'FHDC1', 'score': 11.58}, {'connected_gene': 'MIR4453HG', 'score': 4.75}, {'connected_gene': 'GC04P152944', 'score': 0.37}, {'connected_gene': 'GC04P152946', 'score': 0.37}, {'connected_gene': 'GC04P152945', 'score': 0.37}, {'connected_gene': 'GC04P152943', 'score': 0.37}]
chr4 GH04I152942 152942812 152945309 1.08 [{'connected_gene': 'GC04P152944', 'score': 550.77}, {'connected_gene': 'GC04P152946', 'score': 550.77}, {'connected_gene': 'GC04P152945', 'score': 550.77}, {'connected_gene': 'GC04P152943', 'score': 550.77}, {'connected_gene': 'FHDC1', 'score': 550.29}, {'connected_gene': 'ARFIP1', 'score': 35.97}, {'connected_gene': 'PIR52121', 'score': 0.37}]
chr4 GH04I152894 152894749 152894898 0.31 [{'connected_gene': 'GC04P152882', 'score': 0.39}, {'connected_gene': 'GC04M152863', 'score': 0.39}, {'connected_gene': 'FHDC1', 'score': 0.37}, {'connected_gene': 'ARFIP1', 'score': 0.14}]
chr4 GH04I152962 152961749 152961898 0.64 [{'connected_gene': 'PIR52121', 'score': 550.77}, {'connected_gene': 'FHDC1', 'score': 11.57}, {'connected_gene': 'GC04P152944', 'score': 0.37}, {'connected_gene': 'GC04P152946', 'score': 0.37}, {'connected_gene': 'GC04P152945', 'score': 0.37}, {'connected_gene': 'GC04P152943', 'score': 0.37}]
chr4 GH04I152945 152945657 152947452 0.72 [{'connected_gene': 'GC04P152944', 'score': 0.77}, {'connected_gene': 'GC04P152946', 'score': 0.77}, {'connected_gene': 'GC04P152945', 'score': 0.77}, {'connected_gene': 'GC04P152943', 'score': 0.77}, {'connected_gene': 'PIR52121', 'score': 0.37}, {'connected_gene': 'FHDC1', 'score': 0.29}]