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
ENST00000586659 [[11274942, 11277287], [11280552, 11280642], [11280723, 11280924], [11283656, 11283799], [11285148, 11285368], [11286577, 11286665], [11287253, 11287493], [11289020, 11289123], [11289228, 11289396], [11303506, 11304718], [11305150, 11305266], [11306297, 11306496], [11308160, 11308197]] [[11277233, 11277287], [11280552, 11280642], [11280723, 11280924], [11283656, 11283799], [11285148, 11285368], [11286577, 11286665], [11287253, 11287493], [11289020, 11289123], [11289228, 11289396], [11303506, 11304718], [11305150, 11305187]]
ENST00000355150 [[11274943, 11277287], [11280552, 11280642], [11280723, 11280924], [11283656, 11283799], [11285148, 11285368], [11286577, 11286665], [11287253, 11287493], [11289020, 11289123], [11289228, 11289396], [11303506, 11304718], [11305150, 11305266]] [[11277233, 11277287], [11280552, 11280642], [11280723, 11280924], [11283656, 11283799], [11285148, 11285368], [11286577, 11286665], [11287253, 11287493], [11289020, 11289123], [11289228, 11289396], [11303506, 11304718], [11305150, 11305187]]
ENST00000432929 [[11274943, 11277287], [11280552, 11280642], [11280723, 11280924], [11283656, 11283799], [11285148, 11285368], [11286577, 11286665], [11287253, 11287493], [11289020, 11289147], [11289228, 11289396], [11303506, 11304718], [11305150, 11305266], [11306297, 11306496], [11308160, 11308243]] [[11277233, 11277287], [11280552, 11280642], [11280723, 11280924], [11283656, 11283799], [11285148, 11285368], [11286577, 11286665], [11287253, 11287493], [11289020, 11289147], [11289228, 11289396], [11303506, 11304718], [11305150, 11305187]]
ENST00000588787 [[11274945, 11277287], [11280723, 11280924], [11283656, 11283799], [11285148, 11285368], [11286577, 11286623]] [[11277233, 11277287], [11280723, 11280924], [11283656, 11283799], [11285148, 11285368], [11286577, 11286623]]
ENST00000587317 [[11276984, 11277287], [11280552, 11280642], [11280723, 11280924], [11281013, 11281091]] None
ENST00000589359 [[11277233, 11277287], [11280552, 11280642], [11280723, 11280924], [11283656, 11283799], [11285148, 11285368], [11286577, 11286665], [11287253, 11287493], [11289020, 11289147], [11289228, 11289396], [11303506, 11304718], [11305150, 11305266], [11306231, 11306557], [11308160, 11308223]] [[11277233, 11277287], [11280552, 11280642], [11280723, 11280924], [11283656, 11283799], [11285148, 11285368], [11286577, 11286665], [11287253, 11287493], [11289020, 11289147], [11289228, 11289396], [11303506, 11304718], [11305150, 11305187]]
ENST00000589894 [[11280351, 11280642], [11280723, 11280924], [11283656, 11283799], [11285148, 11285368], [11286577, 11286665], [11287253, 11287493], [11289020, 11289123], [11289228, 11289396], [11303506, 11304718], [11305150, 11305187]] [[11280528, 11280642], [11280723, 11280924], [11283656, 11283799], [11285148, 11285368], [11286577, 11286665], [11287253, 11287493], [11289020, 11289123], [11289228, 11289396], [11303506, 11304718], [11305150, 11305187]]
ENST00000590400 [[11303107, 11304718], [11305150, 11305266], [11308382, 11308467]] None
ENST00000592675 [[11303556, 11304116], [11306297, 11306361]] [[11303556, 11303924]]
ENST00000590685 [[11304312, 11304718], [11305150, 11305266], [11305467, 11305868]] [[11304312, 11304718], [11305150, 11305187]]
ENST00000588724 [[11304621, 11304718], [11305150, 11305266], [11306231, 11306496], [11308160, 11308224]] [[11304621, 11304718], [11305150, 11305187]]
ENST00000592903 [[11305179, 11305266], [11306231, 11306496], [11306725, 11306903], [11308160, 11308206]] [[11305179, 11305187]]
ENST00000592215 [[11305228, 11305266], [11306297, 11306496], [11306725, 11306905]] None
ENST00000590095 [[11306298, 11306557], [11306725, 11306903]] None
ENST00000589427 [[11306733, 11307859]] None
NM_015493 [[11274942, 11277287], [11280552, 11280642], [11280723, 11280924], [11283656, 11283799], [11285148, 11285368], [11286577, 11286665], [11287253, 11287493], [11289020, 11289147], [11289228, 11289396], [11303506, 11304718], [11305150, 11305266]] [[11277233, 11277287], [11280552, 11280642], [11280723, 11280924], [11283656, 11283799], [11285148, 11285368], [11286577, 11286665], [11287253, 11287493], [11289020, 11289147], [11289228, 11289396], [11303506, 11304718], [11305150, 11305187]]
NM_001329451 [[11274942, 11277287], [11280552, 11280642], [11280723, 11280924], [11283656, 11283799], [11285148, 11285368], [11286577, 11286665], [11287253, 11287493], [11289020, 11289123], [11289228, 11289396], [11303506, 11304718], [11305150, 11305266], [11306231, 11306496]] [[11277233, 11277287], [11280552, 11280642], [11280723, 11280924], [11283656, 11283799], [11285148, 11285368], [11286577, 11286665], [11287253, 11287493], [11289020, 11289123], [11289228, 11289396], [11303506, 11304718], [11305150, 11305187]]
NM_001136191 [[11274942, 11277287], [11280552, 11280642], [11280723, 11280924], [11283656, 11283799], [11285148, 11285368], [11286577, 11286665], [11287253, 11287493], [11289020, 11289123], [11289228, 11289396], [11303506, 11304718], [11305150, 11305266], [11306297, 11306496], [11308160, 11308243]] [[11277233, 11277287], [11280552, 11280642], [11280723, 11280924], [11283656, 11283799], [11285148, 11285368], [11286577, 11286665], [11287253, 11287493], [11289020, 11289123], [11289228, 11289396], [11303506, 11304718], [11305150, 11305187]]
Promoter
Chrom Start End Description
chr19 11281014 11281034 CAGE_peak_8_at_KANK2_5end
chr19 11306638 11306657 CAGE_peak_13_at_KANK2_5end
chr19 11308190 11308244 CAGE_peak_1_at_KANK2_5end
chr19 11308398 11308420 CAGE_peak_3_at_KANK2_5end
chr19 11308457 11308472 CAGE_peak_4_at_KANK2_5end
chr19 11308502 11308553 CAGE_peak_2_at_KANK2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I010895 10895460 10895854 0.46 [{'connected_gene': 'TIMM29', 'score': 12.61}, {'connected_gene': 'YIPF2', 'score': 12.61}, {'connected_gene': 'SMARCA4', 'score': 12.52}, {'connected_gene': 'KANK2', 'score': 10.89}, {'connected_gene': 'CARM1', 'score': 0.34}, {'connected_gene': 'PIR43209', 'score': 0.31}]
chr19 GH19I010896 10896505 10897762 1.15 [{'connected_gene': 'TIMM29', 'score': 12.61}, {'connected_gene': 'YIPF2', 'score': 12.61}, {'connected_gene': 'SMARCA4', 'score': 12.52}, {'connected_gene': 'KANK2', 'score': 10.89}, {'connected_gene': 'CARM1', 'score': 0.31}, {'connected_gene': 'PIR43209', 'score': 0.31}]
chr19 GH19I010984 10984061 10984120 0.5 [{'connected_gene': 'SMARCA4', 'score': 562.07}, {'connected_gene': 'TIMM29', 'score': 11.95}, {'connected_gene': 'YIPF2', 'score': 11.95}, {'connected_gene': 'KANK2', 'score': 11.11}, {'connected_gene': 'SPC24', 'score': 11.01}, {'connected_gene': 'GC19P011005', 'score': 0.34}]
chr19 GH19I011041 11041353 11042975 0.31 [{'connected_gene': 'SMARCA4', 'score': 12.39}, {'connected_gene': 'TIMM29', 'score': 12.35}, {'connected_gene': 'YIPF2', 'score': 12.35}, {'connected_gene': 'KANK2', 'score': 11.34}, {'connected_gene': 'ILF3-AS1', 'score': 7.68}, {'connected_gene': 'ENSG00000278643', 'score': 0.44}, {'connected_gene': 'PIR38577', 'score': 0.39}]
chr19 GH19I010893 10893337 10894830 0.69 [{'connected_gene': 'SMARCA4', 'score': 22.28}, {'connected_gene': 'TIMM29', 'score': 12.61}, {'connected_gene': 'YIPF2', 'score': 12.61}, {'connected_gene': 'KANK2', 'score': 10.89}, {'connected_gene': 'CARM1', 'score': 0.34}, {'connected_gene': 'PIR43209', 'score': 0.31}]
chr19 GH19I010897 10895965 10896114 0.63 [{'connected_gene': 'SMARCA4', 'score': 21.51}, {'connected_gene': 'TIMM29', 'score': 12.61}, {'connected_gene': 'YIPF2', 'score': 12.61}, {'connected_gene': 'KANK2', 'score': 10.89}, {'connected_gene': 'CARM1', 'score': 0.34}, {'connected_gene': 'PIR43209', 'score': 0.31}]
chr19 GH19I011386 11386805 11387914 0.8 [{'connected_gene': 'RGL3', 'score': 20.78}, {'connected_gene': 'PLPPR2', 'score': 18.14}, {'connected_gene': 'KANK2', 'score': 5.13}, {'connected_gene': 'EPOR', 'score': 0.77}, {'connected_gene': 'GC19P011409', 'score': 0.34}]
chr19 GH19I011167 11167671 11170817 0.8 [{'connected_gene': 'ILF3', 'score': 15.01}, {'connected_gene': 'TIMM29', 'score': 14.84}, {'connected_gene': 'ZNF844', 'score': 14.28}, {'connected_gene': 'ZNF433', 'score': 13.92}, {'connected_gene': 'ZNF627', 'score': 13.7}, {'connected_gene': 'KRI1', 'score': 13.35}, {'connected_gene': 'ZNF136', 'score': 11.75}, {'connected_gene': 'SPC24', 'score': 8.59}, {'connected_gene': 'KANK2', 'score': 6.91}, {'connected_gene': 'GC19P011173', 'score': 0.77}]
chr19 GH19I011063 11063594 11064267 0.2 [{'connected_gene': 'KANK2', 'score': 11.67}, {'connected_gene': 'SMARCA4', 'score': 8.65}, {'connected_gene': 'AP1M2', 'score': 5.13}, {'connected_gene': 'SWSAP1', 'score': 5.1}, {'connected_gene': 'SPC24', 'score': 4.91}, {'connected_gene': 'GC19M011064', 'score': 0.44}, {'connected_gene': 'PIR38577', 'score': 0.39}]
chr19 GH19I011188 11188533 11192558 1.19 [{'connected_gene': 'KANK2', 'score': 19.91}, {'connected_gene': 'DOCK6', 'score': 4.53}, {'connected_gene': 'GC19P011173', 'score': 0.37}]
chr19 GH19I011244 11244756 11246094 0.43 [{'connected_gene': 'KANK2', 'score': 6.4}, {'connected_gene': 'GC19M011246', 'score': 0.77}, {'connected_gene': 'GC19M011235', 'score': 0.44}, {'connected_gene': 'DOCK6', 'score': 0.37}]
chr19 GH19I011192 11192697 11199790 2.39 [{'connected_gene': 'KANK2', 'score': 565.93}, {'connected_gene': 'LOC105372273', 'score': 5.57}, {'connected_gene': 'ENSG00000267174', 'score': 4.94}, {'connected_gene': 'GC19P011173', 'score': 0.34}, {'connected_gene': 'DOCK6', 'score': 0.2}]
chr19 GH19I011186 11186553 11187336 0.38 [{'connected_gene': 'KANK2', 'score': 20.39}, {'connected_gene': 'GC19P011173', 'score': 0.39}]
chr19 GH19I011187 11187776 11187928 0.31 [{'connected_gene': 'KANK2', 'score': 19.8}, {'connected_gene': 'GC19P011173', 'score': 0.39}]
chr19 GH19I011185 11185483 11185887 0.4 [{'connected_gene': 'KANK2', 'score': 0.39}, {'connected_gene': 'GC19P011173', 'score': 0.39}]
chr19 GH19I011181 11181274 11181998 0.56 [{'connected_gene': 'KANK2', 'score': 19.95}, {'connected_gene': 'GC19P011173', 'score': 0.44}]
chr19 GH19I011184 11184210 11185212 0.72 [{'connected_gene': 'KANK2', 'score': 6.76}, {'connected_gene': 'GC19P011173', 'score': 0.39}]
chr19 GH19I011379 11379797 11384934 2.3 [{'connected_gene': 'EPOR', 'score': 550.77}, {'connected_gene': 'KRI1', 'score': 50.83}, {'connected_gene': 'ILF3', 'score': 48.58}, {'connected_gene': 'TIMM29', 'score': 33.13}, {'connected_gene': 'ZNF44', 'score': 30.47}, {'connected_gene': 'ZNF136', 'score': 28.81}, {'connected_gene': 'ZNF433', 'score': 22.96}, {'connected_gene': 'ZNF878', 'score': 22.76}, {'connected_gene': 'ZNF20', 'score': 20.78}, {'connected_gene': 'ZNF563', 'score': 18.33}, {'connected_gene': 'ZNF763', 'score': 17.76}, {'connected_gene': 'CDC37', 'score': 15.06}, {'connected_gene': 'ZNF700', 'score': 14.29}, {'connected_gene': 'ZNF844', 'score': 14.28}, {'connected_gene': 'ZNF441', 'score': 14.11}, {'connected_gene': 'RGL3', 'score': 14.08}, {'connected_gene': 'ZNF627', 'score': 13.75}, {'connected_gene': 'SWSAP1', 'score': 12.63}, {'connected_gene': 'ENSG00000242615', 'score': 12.32}, {'connected_gene': 'TMEM205', 'score': 12.16}, {'connected_gene': 'CCDC159', 'score': 12.16}, {'connected_gene': 'RAB3D', 'score': 12.16}, {'connected_gene': 'ZNF442', 'score': 12.03}, {'connected_gene': 'ZNF433-AS1', 'score': 11.2}, {'connected_gene': 'CARM1', 'score': 10.9}, {'connected_gene': 'LOC100289333', 'score': 9.76}, {'connected_gene': 'KANK2', 'score': 4.69}, {'connected_gene': 'PIR61774', 'score': 0.44}]
chr19 GH19I011163 11163404 11167404 0.92 [{'connected_gene': 'ZNF627', 'score': 10.22}, {'connected_gene': 'QTRT1', 'score': 9.7}, {'connected_gene': 'SPC24', 'score': 8.69}, {'connected_gene': 'GC19P011173', 'score': 0.44}, {'connected_gene': 'KANK2', 'score': 0.29}]
chr19 GH19I011443 11443714 11449426 0.82 [{'connected_gene': 'ELAVL3', 'score': 13.26}, {'connected_gene': 'EPOR', 'score': 12.81}, {'connected_gene': 'TSPAN16', 'score': 11.98}, {'connected_gene': 'KANK2', 'score': 11.16}, {'connected_gene': 'PRKCSH', 'score': 6.01}, {'connected_gene': 'ENSG00000267174', 'score': 5.09}, {'connected_gene': 'CCDC159', 'score': 4.57}, {'connected_gene': 'CCDC151', 'score': 0.39}, {'connected_gene': 'GC19M011460', 'score': 0.37}]
chr19 GH19I011150 11150650 11156995 2.46 [{'connected_gene': 'SPC24', 'score': 561.23}, {'connected_gene': 'KRI1', 'score': 50.83}, {'connected_gene': 'ILF3', 'score': 48.59}, {'connected_gene': 'TIMM29', 'score': 33.16}, {'connected_gene': 'ZNF20', 'score': 29.4}, {'connected_gene': 'RAVER1', 'score': 24.91}, {'connected_gene': 'ZNF627', 'score': 23.27}, {'connected_gene': 'ZNF433', 'score': 22.96}, {'connected_gene': 'ZNF878', 'score': 22.76}, {'connected_gene': 'ZNF700', 'score': 22.53}, {'connected_gene': 'DNMT1', 'score': 18.95}, {'connected_gene': 'ZNF763', 'score': 17.76}, {'connected_gene': 'CDC37', 'score': 15.06}, {'connected_gene': 'ZNF844', 'score': 14.28}, {'connected_gene': 'SWSAP1', 'score': 12.27}, {'connected_gene': 'ZNF439', 'score': 11.63}, {'connected_gene': 'PRKCSH', 'score': 11.36}, {'connected_gene': 'ZNF433-AS1', 'score': 11.2}, {'connected_gene': 'CARM1', 'score': 10.93}, {'connected_gene': 'TYK2', 'score': 9.93}, {'connected_gene': 'ENSG00000242615', 'score': 9.73}, {'connected_gene': 'KANK2', 'score': 5.33}, {'connected_gene': 'SMARCA4', 'score': 4.62}, {'connected_gene': 'MIR6886', 'score': 0.26}]
chr19 GH19I011179 11179612 11180801 1.1 [{'connected_gene': 'SPC24', 'score': 12.89}, {'connected_gene': 'PLPPR2', 'score': 5.95}, {'connected_gene': 'GC19P011173', 'score': 0.44}, {'connected_gene': 'KANK2', 'score': 0.37}]
chr19 GH19I011047 11047960 11051194 0.83 [{'connected_gene': 'SPC24', 'score': 11.93}, {'connected_gene': 'KANK2', 'score': 11.27}, {'connected_gene': 'SMARCA4', 'score': 8.21}, {'connected_gene': 'ILF3-AS1', 'score': 5.31}, {'connected_gene': 'PIR38577', 'score': 0.77}, {'connected_gene': 'ENSG00000278643', 'score': 0.37}]
chr19 GH19I011178 11178358 11179023 0.51 [{'connected_gene': 'SPC24', 'score': 12.89}, {'connected_gene': 'GC19P011173', 'score': 0.44}, {'connected_gene': 'KANK2', 'score': 0.37}]
chr19 GH19I011177 11177776 11178255 0.38 [{'connected_gene': 'SPC24', 'score': 12.89}, {'connected_gene': 'GC19P011173', 'score': 0.77}, {'connected_gene': 'KANK2', 'score': 0.37}]
chr19 GH19I011202 11202151 11205268 1.26 [{'connected_gene': 'LOC105372273', 'score': 555.8}, {'connected_gene': 'ANGPTL8', 'score': 12.83}, {'connected_gene': 'DOCK6', 'score': 12.76}, {'connected_gene': 'KANK2', 'score': 6.38}, {'connected_gene': 'GC19P011210', 'score': 0.77}]
chr19 GH19I011200 11200642 11201857 0.31 [{'connected_gene': 'LOC105372273', 'score': 5.98}, {'connected_gene': 'KANK2', 'score': 0.77}, {'connected_gene': 'DOCK6', 'score': 0.21}]
chr19 GH19I011209 11209376 11210870 0.75 [{'connected_gene': 'GC19P011210', 'score': 550.77}, {'connected_gene': 'ENSG00000279807', 'score': 550.77}, {'connected_gene': 'ILF3', 'score': 55.05}, {'connected_gene': 'ZNF627', 'score': 48.43}, {'connected_gene': 'ZNF441', 'score': 44.37}, {'connected_gene': 'ZNF625', 'score': 42.81}, {'connected_gene': 'ZNF136', 'score': 41.72}, {'connected_gene': 'ZNF844', 'score': 36.24}, {'connected_gene': 'ENSG00000242615', 'score': 32.57}, {'connected_gene': 'ZNF788', 'score': 28.71}, {'connected_gene': 'ZNF439', 'score': 28.52}, {'connected_gene': 'ZNF491', 'score': 24.14}, {'connected_gene': 'DNMT1', 'score': 22.45}, {'connected_gene': 'ZNF433', 'score': 21.4}, {'connected_gene': 'KRI1', 'score': 20.12}, {'connected_gene': 'ILF3-AS1', 'score': 19.43}, {'connected_gene': 'ZNF763', 'score': 13.66}, {'connected_gene': 'ZNF878', 'score': 12.76}, {'connected_gene': 'ZNF20', 'score': 12.43}, {'connected_gene': 'TIMM29', 'score': 12.27}, {'connected_gene': 'ZNF700', 'score': 12.14}, {'connected_gene': 'HNRNPA1P10', 'score': 11.67}, {'connected_gene': 'RAVER1', 'score': 11.32}, {'connected_gene': 'YIPF2', 'score': 11.2}, {'connected_gene': 'ZNF440', 'score': 10.46}, {'connected_gene': 'CDC37', 'score': 9.9}, {'connected_gene': 'LOC100289333', 'score': 9.75}, {'connected_gene': 'DOCK6', 'score': 5.44}, {'connected_gene': 'KANK2', 'score': 5.3}, {'connected_gene': 'LOC105372273', 'score': 0.44}, {'connected_gene': 'GC19P011217', 'score': 0.44}]
chr19 GH19I011172 11172036 11175227 0.38 [{'connected_gene': 'GC19P011173', 'score': 550.77}, {'connected_gene': 'KANK2', 'score': 17.51}, {'connected_gene': 'LOC105372273', 'score': 5.25}, {'connected_gene': 'DOCK6', 'score': 4.33}]

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