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
ENST00000457799 [[157644110, 157644467], [157646465, 157646522]] None
ENST00000494724 [[157646270, 157646558], [157648384, 157648646], [157648731, 157648763], [157650491, 157650560], [157650770, 157650889], [157653006, 157653034], [157659587, 157659707], [157660044, 157660323], [157665118, 157665397], [157665829, 157666117], [157666929, 157667119], [157667448, 157667709], [157668173, 157668419], [157669481, 157669502], [157670248, 157670375], [157670451, 157670520]] None
ENST00000477837 [[157646270, 157646558], [157648384, 157648646], [157648731, 157648763], [157650491, 157650560], [157650770, 157650889], [157653006, 157653034], [157659587, 157659707], [157660044, 157660323], [157665118, 157665397], [157665829, 157666117], [157667448, 157667709], [157668173, 157668419], [157669481, 157669502], [157670248, 157670375], [157670451, 157670520]] [[157648499, 157648646], [157648731, 157648763], [157650491, 157650560], [157650770, 157650889], [157653006, 157653034], [157659587, 157659707], [157660044, 157660323], [157665118, 157665397], [157665829, 157666117], [157667448, 157667709], [157668173, 157668419], [157669481, 157669502], [157670248, 157670279]]
ENST00000480682 [[157646270, 157646558], [157648384, 157648646], [157648731, 157648763], [157650491, 157650560], [157650770, 157650889], [157653006, 157653034], [157659587, 157659707], [157660044, 157660323], [157665118, 157665397], [157665829, 157666117], [157666929, 157667709], [157668173, 157668419], [157669481, 157669502], [157670248, 157670375], [157670451, 157670520]] None
ENST00000492769 [[157646270, 157646558], [157648384, 157648646], [157648731, 157648763], [157650491, 157650560], [157650770, 157650889], [157653006, 157653034], [157659587, 157659707], [157660044, 157660323], [157665118, 157665415], [157665829, 157666117], [157666929, 157667214], [157667448, 157667709], [157668173, 157668419], [157669481, 157669502], [157670248, 157670375], [157670451, 157670520]] [[157648499, 157648646], [157648731, 157648763], [157650491, 157650560], [157650770, 157650889], [157653006, 157653034], [157659587, 157659707], [157660044, 157660323], [157665118, 157665415], [157665829, 157666117], [157666929, 157667214], [157667448, 157667709], [157668173, 157668419], [157669481, 157669502], [157670248, 157670279]]
ENST00000368186 [[157646270, 157646558], [157648532, 157648646], [157648731, 157648763], [157650491, 157650560], [157650770, 157650889], [157653006, 157653034], [157659587, 157659707], [157660044, 157660323], [157665118, 157665397], [157665829, 157666117], [157666929, 157667214], [157667448, 157667709], [157668173, 157668419], [157669481, 157669502], [157670248, 157670375], [157670451, 157670528]] [[157646501, 157646558], [157648532, 157648646], [157648731, 157648763], [157650491, 157650560], [157650770, 157650889], [157653006, 157653034], [157659587, 157659707], [157660044, 157660323], [157665118, 157665397], [157665829, 157666117], [157666929, 157667214], [157667448, 157667709], [157668173, 157668419], [157669481, 157669502], [157670248, 157670279]]
ENST00000485028 [[157646270, 157646558], [157648384, 157648646], [157648731, 157648763], [157650491, 157650560], [157650770, 157650889], [157653006, 157653034], [157659587, 157659707], [157660044, 157660323], [157665118, 157665397], [157665829, 157666117], [157666929, 157667214], [157667448, 157667709], [157668173, 157668419], [157669481, 157669502], [157670248, 157670375], [157670451, 157670533]] [[157648499, 157648646], [157648731, 157648763], [157650491, 157650560], [157650770, 157650889], [157653006, 157653034], [157659587, 157659707], [157660044, 157660323], [157665118, 157665397], [157665829, 157666117], [157666929, 157667214], [157667448, 157667709], [157668173, 157668419], [157669481, 157669502], [157670248, 157670279]]
ENST00000368184 [[157646271, 157648646], [157648731, 157648763], [157650491, 157650560], [157650770, 157650889], [157653006, 157653034], [157659587, 157659707], [157660044, 157660323], [157665118, 157665397], [157665829, 157666117], [157666929, 157667214], [157667448, 157667709], [157668173, 157668419], [157669481, 157669502], [157670248, 157670375], [157670451, 157670647]] [[157648499, 157648646], [157648731, 157648763], [157650491, 157650560], [157650770, 157650889], [157653006, 157653034], [157659587, 157659707], [157660044, 157660323], [157665118, 157665397], [157665829, 157666117], [157666929, 157667214], [157667448, 157667709], [157668173, 157668419], [157669481, 157669502], [157670248, 157670279]]
ENST00000473231 [[157648110, 157648646], [157648731, 157648763], [157650491, 157650560], [157650770, 157650889], [157653006, 157653034], [157659587, 157659707], [157660044, 157660323], [157665118, 157665397], [157665829, 157667803]] None
ENST00000468507 [[157648480, 157648975], [157650491, 157650560], [157650770, 157650889], [157653006, 157653034], [157659587, 157659680]] None
ENST00000478179 [[157666957, 157667084], [157667448, 157667709]] None
ENST00000496769 [[157667005, 157667214], [157667448, 157667709], [157668173, 157668419], [157669481, 157669502], [157670248, 157670375], [157670492, 157670535]] [[157667005, 157667214], [157667448, 157667709], [157668173, 157668419], [157669481, 157669502], [157670248, 157670279]]
NR_135214 [[157646270, 157646558], [157648384, 157648646], [157648731, 157648763], [157650491, 157650560], [157650770, 157650889], [157653006, 157653034], [157659587, 157659707], [157660044, 157660323], [157665118, 157665415], [157665829, 157666117], [157666929, 157667214], [157667448, 157667709], [157668173, 157668419], [157669481, 157669502], [157670248, 157670375], [157670451, 157670662]] None
NR_135215 [[157646270, 157646558], [157648384, 157648646], [157648731, 157648763], [157650491, 157650560], [157650770, 157650889], [157653006, 157653034], [157659587, 157659707], [157660044, 157660323], [157665118, 157665397], [157665829, 157666117], [157666929, 157667214], [157667448, 157667709], [157668173, 157668419], [157669481, 157669502], [157670248, 157670375], [157670451, 157670662]] None
NM_001320333 [[157646270, 157646558], [157648532, 157648646], [157648731, 157648763], [157650491, 157650560], [157650770, 157650889], [157653006, 157653034], [157659587, 157659707], [157660044, 157660323], [157665118, 157665397], [157665829, 157666117], [157666929, 157667214], [157667448, 157667709], [157668173, 157668419], [157669481, 157669502], [157670248, 157670375], [157670451, 157670662]] [[157646501, 157646558], [157648532, 157648646], [157648731, 157648763], [157650491, 157650560], [157650770, 157650889], [157653006, 157653034], [157659587, 157659707], [157660044, 157660323], [157665118, 157665397], [157665829, 157666117], [157666929, 157667214], [157667448, 157667709], [157668173, 157668419], [157669481, 157669502], [157670248, 157670279]]
NR_135216 [[157646270, 157646558], [157648384, 157648646], [157648731, 157648763], [157650491, 157650560], [157650770, 157650889], [157653006, 157653034], [157659587, 157659707], [157660044, 157660323], [157665118, 157665397], [157665829, 157666117], [157666929, 157667119], [157667448, 157667709], [157668173, 157668419], [157669481, 157669502], [157670248, 157670375], [157670451, 157670662]] None
NR_135217 [[157646270, 157646558], [157648384, 157648646], [157648731, 157648763], [157650491, 157650560], [157650770, 157650889], [157653006, 157653034], [157659587, 157659707], [157660044, 157660323], [157665118, 157665397], [157665829, 157666117], [157667448, 157667709], [157668173, 157668419], [157669481, 157669502], [157670248, 157670375], [157670451, 157670662]] None
NM_052939 [[157647977, 157648646], [157648731, 157648763], [157650491, 157650560], [157650770, 157650889], [157653006, 157653034], [157659587, 157659707], [157660044, 157660323], [157665118, 157665397], [157665829, 157666117], [157666929, 157667214], [157667448, 157667709], [157668173, 157668419], [157669481, 157669502], [157670248, 157670375], [157670451, 157670647]] [[157648499, 157648646], [157648731, 157648763], [157650491, 157650560], [157650770, 157650889], [157653006, 157653034], [157659587, 157659707], [157660044, 157660323], [157665118, 157665397], [157665829, 157666117], [157666929, 157667214], [157667448, 157667709], [157668173, 157668419], [157669481, 157669502], [157670248, 157670279]]
Promoter
Chrom Start End Description
chr1 157670333 157670347 CAGE_peak_7_at_FCRL3_5end
chr1 157670355 157670367 CAGE_peak_8_at_FCRL3_5end
chr1 157670380 157670392 CAGE_peak_6_at_FCRL3_5end
chr1 157670537 157670568 CAGE_peak_1_at_FCRL3_5end
chr1 157670658 157670667 CAGE_peak_4_at_FCRL3_5end
chr1 157670670 157670684 CAGE_peak_5_at_FCRL3_5end
chr1 157670686 157670730 CAGE_peak_2_at_FCRL3_5end
chr1 157670738 157670753 CAGE_peak_3_at_FCRL3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I157566 157566125 157567786 0.62 [{'connected_gene': 'FCRL5', 'score': 36.21}, {'connected_gene': 'ENSG00000227217', 'score': 10.3}, {'connected_gene': 'FCRL3', 'score': 10.29}, {'connected_gene': 'FCRL4', 'score': 0.29}]
chr1 GH01I157595 157595491 157595580 0.75 [{'connected_gene': 'FCRL5', 'score': 11.25}, {'connected_gene': 'ENSG00000227217', 'score': 10.82}, {'connected_gene': 'FCRL3', 'score': 10.81}, {'connected_gene': 'FCRL2', 'score': 10.06}, {'connected_gene': 'FCRL1', 'score': 9.52}, {'connected_gene': 'FCRL4', 'score': 0.77}]
chr1 GH01I157522 157522164 157525977 0.38 [{'connected_gene': 'FCRL5', 'score': 17.17}, {'connected_gene': 'FCRL3', 'score': 10.22}, {'connected_gene': 'ENSG00000227217', 'score': 9.97}, {'connected_gene': 'PIR33564', 'score': 0.29}, {'connected_gene': 'GC01P157412', 'score': 0.13}]
chr1 GH01I157652 157652801 157653600 0.77 [{'connected_gene': 'RRNAD1', 'score': 53.96}, {'connected_gene': 'PRCC', 'score': 18.96}, {'connected_gene': 'LOC246784', 'score': 11.72}, {'connected_gene': 'FCRL3', 'score': 9.88}, {'connected_gene': 'LRRC71', 'score': 9.75}, {'connected_gene': 'CD1E', 'score': 9.7}, {'connected_gene': 'MIR765', 'score': 4.66}, {'connected_gene': 'LOC105371457', 'score': 0.44}, {'connected_gene': 'ENSG00000233712', 'score': 0.39}]
chr1 GH01I157721 157721259 157727608 1.05 [{'connected_gene': 'VDAC1P9', 'score': 550.77}, {'connected_gene': 'FCRL3', 'score': 23.98}, {'connected_gene': 'ENSG00000227217', 'score': 11.71}, {'connected_gene': 'FCRL2', 'score': 10.56}, {'connected_gene': 'FCRL1', 'score': 10.05}, {'connected_gene': 'SONP1', 'score': 0.37}]
chr1 GH01I157707 157707054 157711288 0.31 [{'connected_gene': 'SONP1', 'score': 550.77}, {'connected_gene': 'FCRL3', 'score': 8.99}, {'connected_gene': 'VDAC1P9', 'score': 0.37}]
chr1 GH01I157703 157703789 157705359 0.31 [{'connected_gene': 'FCRL3', 'score': 17.66}, {'connected_gene': 'SONP1', 'score': 0.77}]
chr1 GH01I157733 157733540 157735611 0.51 [{'connected_gene': 'FCRL3', 'score': 11.54}, {'connected_gene': 'FCRL2', 'score': 10.76}, {'connected_gene': 'ENSG00000227217', 'score': 10.72}, {'connected_gene': 'FCRL1', 'score': 10.25}, {'connected_gene': 'VDAC1P9', 'score': 0.44}, {'connected_gene': 'PIR43091', 'score': 0.28}]
chr1 GH01I157695 157695106 157702762 1.01 [{'connected_gene': 'FCRL3', 'score': 570.67}, {'connected_gene': 'ENSG00000227217', 'score': 0.44}]
chr1 GH01I157849 157849201 157850200 0.31 [{'connected_gene': 'FCRL1', 'score': 11.19}, {'connected_gene': 'CD5L', 'score': 11.08}, {'connected_gene': 'FCRL2', 'score': 10.75}, {'connected_gene': 'FCRL3', 'score': 10.03}, {'connected_gene': 'MRPS21P2', 'score': 0.39}]
chr1 GH01I157278 157278653 157279068 0.83 [{'connected_gene': 'LOC105371456', 'score': 550.77}, {'connected_gene': 'LOC105371455', 'score': 6.66}, {'connected_gene': 'FCRL3', 'score': 1.37}]
chr1 GH01I157773 157773452 157774930 0.52 [{'connected_gene': 'PIR43091', 'score': 550.77}, {'connected_gene': 'FCRL3', 'score': 18.13}, {'connected_gene': 'FCRL1', 'score': 15.52}, {'connected_gene': 'FCRL5', 'score': 9.46}, {'connected_gene': 'FCRL2', 'score': 0.77}]