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
ENST00000261530 [[76618278, 76618334], [76620696, 76621368], [76633005, 76633070], [76638185, 76638362], [76639888, 76639968], [76642965, 76643033], [76644330, 76644385], [76647106, 76647192], [76662220, 76662315], [76668033, 76680686]] [[76620706, 76621368], [76633005, 76633070], [76638185, 76638362], [76639888, 76639968], [76642965, 76643033], [76644330, 76644385], [76647106, 76647192], [76662220, 76662315], [76668033, 76668194]]
ENST00000556675 [[76647157, 76647192], [76662220, 76662315], [76696150, 76696296], [76696671, 76696762], [76700865, 76701269]] None
ENST00000556372 [[76662250, 76662315], [76696150, 76696296], [76718393, 76718451], [76720415, 76720685]] [[76720556, 76720670]]
ENST00000554375 [[76618258, 76618334], [76620696, 76621368], [76633005, 76633070], [76638185, 76638362], [76639888, 76639968], [76642965, 76643033], [76644234, 76644274], [76644550, 76644665], [76647106, 76647192], [76662220, 76662315], [76668033, 76668350]] [[76620706, 76621368], [76633005, 76633070], [76638185, 76638362], [76639888, 76639968], [76642965, 76643033], [76644234, 76644274], [76644550, 76644556]]
ENST00000557542 [[76618261, 76618334], [76618878, 76618923], [76620696, 76621024]] [[76620706, 76621024]]
ENST00000556109 [[76618261, 76618334], [76620696, 76621099], [76621222, 76621321]] [[76620706, 76621024]]
ENST00000557263 [[76618264, 76618318], [76620696, 76621368], [76633005, 76633070], [76638185, 76638362], [76639888, 76640378]] [[76620706, 76621368], [76633005, 76633070], [76638185, 76638362], [76639888, 76640040]]
ENST00000557207 [[76618272, 76618334], [76618878, 76619345]] [[76618974, 76619160]]
ENST00000554125 [[76618276, 76618334], [76620696, 76621368], [76633005, 76633070], [76638185, 76638362], [76639888, 76643033], [76644234, 76646365]] None
ENST00000312858 [[76618277, 76618334], [76620696, 76621368], [76633005, 76633070], [76638185, 76638362], [76639888, 76639968], [76642965, 76643033], [76644234, 76644274], [76647106, 76647192], [76662220, 76662315], [76668033, 76669131]] [[76620706, 76621368], [76633005, 76633070], [76638185, 76638362], [76639888, 76639968], [76642965, 76643033], [76644234, 76644274], [76647106, 76647192], [76662220, 76662315], [76668033, 76668194]]
ENST00000556663 [[76619988, 76621368], [76633005, 76633070], [76638185, 76638362], [76639888, 76640378]] [[76620706, 76621368], [76633005, 76633070], [76638185, 76638362], [76639888, 76640040]]
ENST00000554799 [[76636938, 76637068], [76638185, 76638362], [76639888, 76639968], [76642965, 76643033], [76644330, 76644385], [76644550, 76644665], [76647106, 76647192], [76662220, 76662330]] [[76647137, 76647192], [76662220, 76662330]]
ENST00000553588 [[76647124, 76647192], [76662220, 76662928]] [[76647137, 76647192], [76662220, 76662468]]
NM_017926 [[76618227, 76618334], [76620696, 76621368], [76633005, 76633070], [76638185, 76638362], [76639888, 76639968], [76642965, 76643033], [76644330, 76644385], [76647106, 76647192], [76662220, 76662315], [76668033, 76679146]] [[76620706, 76621368], [76633005, 76633070], [76638185, 76638362], [76639888, 76639968], [76642965, 76643033], [76644330, 76644385], [76647106, 76647192], [76662220, 76662315], [76668033, 76668194]]
NM_017972 [[76620696, 76621368], [76633005, 76633070], [76638185, 76638362], [76639888, 76639968], [76642965, 76643033], [76644234, 76644274], [76647106, 76647192], [76662220, 76662315], [76668033, 76679146]] [[76620706, 76621368], [76633005, 76633070], [76638185, 76638362], [76639888, 76639968], [76642965, 76643033], [76644234, 76644274], [76647106, 76647192], [76662220, 76662315], [76668033, 76668194]]
NR_110314 [[76620696, 76621368], [76633005, 76633070], [76638185, 76638362], [76639888, 76639968], [76642965, 76643033], [76644234, 76644274], [76644550, 76644665], [76647106, 76647192], [76662220, 76662315], [76668033, 76679146]] None
NM_001322031 [[76618227, 76618334], [76620696, 76621368], [76633005, 76637541]] [[76620706, 76621368], [76633005, 76633159]]
NM_001322027 [[76618227, 76618334], [76620696, 76621368], [76633005, 76633070], [76638185, 76641836]] [[76620706, 76621368], [76633005, 76633070], [76638185, 76638373]]
NM_001322026 [[76618227, 76618334], [76620696, 76621368], [76633005, 76633070], [76638185, 76638362], [76639888, 76639968], [76642965, 76643033], [76644234, 76645653]] [[76620706, 76621368], [76633005, 76633070], [76638185, 76638362], [76639888, 76639968], [76642965, 76643033], [76644234, 76644487]]
NM_001322032 [[76618227, 76618334], [76620696, 76621368], [76633005, 76633070], [76638185, 76638362], [76639888, 76639968], [76642965, 76643033], [76644330, 76646212]] [[76620706, 76621368], [76633005, 76633070], [76638185, 76638362], [76639888, 76639968], [76642965, 76643033], [76644330, 76644487]]
NM_001322029 [[76618227, 76618334], [76620696, 76621368], [76633005, 76633070], [76638185, 76638362], [76639888, 76639968], [76642965, 76643033], [76644330, 76644385], [76647106, 76647192], [76662220, 76662739]] [[76620706, 76621368], [76633005, 76633070], [76638185, 76638362], [76639888, 76639968], [76642965, 76643033], [76644330, 76644385], [76647106, 76647192], [76662220, 76662368]]
NM_001322030 [[76618227, 76618334], [76620696, 76621368], [76633005, 76633070], [76638185, 76638362], [76639888, 76639968], [76642965, 76643033], [76644330, 76644385], [76647106, 76647192], [76662220, 76662315], [76664011, 76665823]] [[76620706, 76621368], [76633005, 76633070], [76638185, 76638362], [76639888, 76639968], [76642965, 76643033], [76644330, 76644385], [76647106, 76647192], [76662220, 76662315], [76664011, 76664133]]
NM_001322028 [[76618227, 76618334], [76620696, 76621368], [76633005, 76633070], [76638185, 76638362], [76639888, 76639968], [76642965, 76643033], [76644330, 76644385], [76647106, 76647192], [76662220, 76662315], [76666222, 76666642]] [[76620706, 76621368], [76633005, 76633070], [76638185, 76638362], [76639888, 76639968], [76642965, 76643033], [76644330, 76644385], [76647106, 76647192], [76662220, 76662315], [76666222, 76666278]]
Promoter
Chrom Start End Description
chr14 76618242 76618305 CAGE_peak_1_at_C14orf118_5end
chr14 76618319 76618330 CAGE_peak_2_at_C14orf118_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I075249 75249038 75261045 2.69 [{'connected_gene': 'NEK9', 'score': 21.0}, {'connected_gene': 'GPATCH2L', 'score': 10.22}, {'connected_gene': 'IFT43', 'score': 6.53}, {'connected_gene': 'FOS', 'score': 5.48}, {'connected_gene': 'ABCD4', 'score': 4.69}, {'connected_gene': 'ENSG00000258740', 'score': 4.59}, {'connected_gene': 'YLPM1', 'score': 1.41}, {'connected_gene': 'LOC105370571', 'score': 0.77}, {'connected_gene': 'RNU4ATAC14P', 'score': 0.23}]
chr14 GH14I077003 77003662 77010833 1.26 [{'connected_gene': 'CIPC', 'score': 15.64}, {'connected_gene': 'SNW1', 'score': 13.85}, {'connected_gene': 'IRF2BPL', 'score': 12.61}, {'connected_gene': 'ALKBH1', 'score': 12.34}, {'connected_gene': 'GPATCH2L', 'score': 11.91}, {'connected_gene': 'VIPAS39', 'score': 11.12}, {'connected_gene': 'RPL22P2', 'score': 10.27}, {'connected_gene': 'LINC01629', 'score': 5.31}, {'connected_gene': 'GC14P077023', 'score': 0.37}, {'connected_gene': 'GC14M076985', 'score': 0.34}]
chr14 GH14I077096 77096274 77100655 2.3 [{'connected_gene': 'CIPC', 'score': 556.91}, {'connected_gene': 'ENSG00000259164', 'score': 550.77}, {'connected_gene': 'GC14M077096', 'score': 550.77}, {'connected_gene': 'SNW1', 'score': 36.28}, {'connected_gene': 'VIPAS39', 'score': 35.65}, {'connected_gene': 'ZMYND19P1', 'score': 25.8}, {'connected_gene': 'RPL22P2', 'score': 25.54}, {'connected_gene': 'ALKBH1', 'score': 24.46}, {'connected_gene': 'IRF2BPL', 'score': 23.56}, {'connected_gene': 'GPATCH2L', 'score': 22.56}, {'connected_gene': 'RPL21P10', 'score': 11.91}, {'connected_gene': 'POMT2', 'score': 10.9}, {'connected_gene': 'LINC02288', 'score': 4.73}, {'connected_gene': 'PIR36428', 'score': 0.39}]
chr14 GH14I077021 77021582 77047176 3.06 [{'connected_gene': 'IRF2BPL', 'score': 577.43}, {'connected_gene': 'LOC105370579', 'score': 550.77}, {'connected_gene': 'SNW1', 'score': 32.59}, {'connected_gene': 'ALKBH1', 'score': 32.3}, {'connected_gene': 'RPL22P2', 'score': 31.25}, {'connected_gene': 'VIPAS39', 'score': 29.63}, {'connected_gene': 'POMT2', 'score': 29.33}, {'connected_gene': 'ZMYND19P1', 'score': 27.18}, {'connected_gene': 'GPATCH2L', 'score': 22.24}, {'connected_gene': 'RPL21P10', 'score': 20.39}, {'connected_gene': 'CIPC', 'score': 13.7}, {'connected_gene': 'ENSG00000259081', 'score': 11.08}, {'connected_gene': 'LINC02288', 'score': 8.25}, {'connected_gene': 'TMEM63C', 'score': 1.88}, {'connected_gene': 'VASH1', 'score': 1.72}, {'connected_gene': 'TMED8', 'score': 1.21}, {'connected_gene': 'LRRC74A', 'score': 1.11}, {'connected_gene': 'GC14P077024', 'score': 0.44}, {'connected_gene': 'ENSG00000273729', 'score': 0.44}, {'connected_gene': 'GC14P077023', 'score': 0.39}]
chr14 GH14I076767 76767379 76769592 1.23 [{'connected_gene': 'VIPAS39', 'score': 47.73}, {'connected_gene': 'SNW1', 'score': 37.99}, {'connected_gene': 'ALKBH1', 'score': 37.6}, {'connected_gene': 'ZMYND19P1', 'score': 36.1}, {'connected_gene': 'GPATCH2L', 'score': 33.25}, {'connected_gene': 'RPL22P2', 'score': 32.55}, {'connected_gene': 'IRF2BPL', 'score': 24.3}, {'connected_gene': 'RPL21P10', 'score': 20.19}, {'connected_gene': 'POMT2', 'score': 19.55}, {'connected_gene': 'ENSG00000259081', 'score': 16.72}, {'connected_gene': 'VASH1', 'score': 11.56}, {'connected_gene': 'IFT43', 'score': 10.29}, {'connected_gene': 'NGB', 'score': 9.8}, {'connected_gene': 'ENSG00000258610', 'score': 0.39}]
chr14 GH14I076200 76200512 76205254 1.03 [{'connected_gene': 'GPATCH2L', 'score': 21.51}, {'connected_gene': 'ENSG00000258454', 'score': 14.46}, {'connected_gene': 'ESRRB', 'score': 13.02}, {'connected_gene': 'PIR37482', 'score': 0.77}, {'connected_gene': 'GC14P076200', 'score': 0.77}, {'connected_gene': 'GC14P076173', 'score': 0.31}]
chr14 GH14I076151 76151191 76153603 1.99 [{'connected_gene': 'GPATCH2L', 'score': 573.71}, {'connected_gene': 'ENSG00000283629', 'score': 550.77}, {'connected_gene': 'ESRRB', 'score': 9.21}, {'connected_gene': 'ENSG00000258454', 'score': 6.89}]
chr14 GH14I076138 76138588 76139592 0.68 [{'connected_gene': 'GPATCH2L', 'score': 20.55}, {'connected_gene': 'ENSG00000258454', 'score': 14.06}, {'connected_gene': 'ENSG00000283629', 'score': 0.39}, {'connected_gene': 'PIR42300', 'score': 0.23}]
chr14 GH14I076190 76190801 76191957 0.66 [{'connected_gene': 'GPATCH2L', 'score': 22.7}, {'connected_gene': 'ENSG00000258454', 'score': 14.4}, {'connected_gene': 'GC14P076196', 'score': 0.44}, {'connected_gene': 'GC14P076173', 'score': 0.37}]
chr14 GH14I076154 76154391 76154450 0.68 [{'connected_gene': 'GPATCH2L', 'score': 550.77}, {'connected_gene': 'ENSG00000283629', 'score': 550.77}, {'connected_gene': 'GC14P076173', 'score': 0.37}]
chr14 GH14I076123 76123538 76123687 0.31 [{'connected_gene': 'GPATCH2L', 'score': 0.31}, {'connected_gene': 'PIR42300', 'score': 0.28}]
chr14 GH14I076352 76352281 76353399 1.1 [{'connected_gene': 'RPL22P2', 'score': 13.13}, {'connected_gene': 'GPATCH2L', 'score': 11.36}, {'connected_gene': 'ESRRB', 'score': 6.73}, {'connected_gene': 'GC14M076354', 'score': 0.77}, {'connected_gene': 'GC14P076344', 'score': 0.44}]
chr14 GH14I075659 75659888 75662401 2.04 [{'connected_gene': 'TTLL5', 'score': 561.11}, {'connected_gene': 'ERG28', 'score': 550.77}, {'connected_gene': 'GC14M075659', 'score': 550.77}, {'connected_gene': 'FLVCR2', 'score': 24.62}, {'connected_gene': 'GPATCH2L', 'score': 22.84}, {'connected_gene': 'NEK9', 'score': 12.31}, {'connected_gene': 'FCF1', 'score': 11.69}, {'connected_gene': 'LOC102724153', 'score': 11.16}, {'connected_gene': 'YLPM1', 'score': 10.75}, {'connected_gene': 'MLH3', 'score': 10.17}, {'connected_gene': 'EIF2B2', 'score': 9.92}, {'connected_gene': 'GC14M075662', 'score': 0.77}]
chr14 GH14I075273 75273233 75282407 2.64 [{'connected_gene': 'FOS', 'score': 572.94}, {'connected_gene': 'GC14P075280', 'score': 550.77}, {'connected_gene': 'GC14P075279', 'score': 550.77}, {'connected_gene': 'GPATCH2L', 'score': 31.71}, {'connected_gene': 'FCF1', 'score': 20.5}, {'connected_gene': 'ENSG00000258559', 'score': 20.15}, {'connected_gene': 'NEK9', 'score': 19.52}, {'connected_gene': 'ABCD4', 'score': 11.65}, {'connected_gene': 'ACYP1', 'score': 10.89}, {'connected_gene': 'MLH3', 'score': 10.74}, {'connected_gene': 'ENSG00000258740', 'score': 4.55}, {'connected_gene': 'JDP2', 'score': 3.98}, {'connected_gene': 'FLVCR2', 'score': 3.0}, {'connected_gene': 'BATF', 'score': 1.1}, {'connected_gene': 'GC14P075290', 'score': 0.77}, {'connected_gene': 'GC14P075289', 'score': 0.77}, {'connected_gene': 'ENSG00000283519', 'score': 0.44}]
chr14 GH14I076112 76112922 76114447 0.46 [{'connected_gene': 'IFT43', 'score': 4.89}, {'connected_gene': 'PIR42300', 'score': 0.31}, {'connected_gene': 'GPATCH2L', 'score': 0.28}]
chr14 GH14I076949 76949601 76963502 2.35 [{'connected_gene': 'LINC01629', 'score': 69.23}, {'connected_gene': 'IRF2BPL', 'score': 24.74}, {'connected_gene': 'SNW1', 'score': 22.81}, {'connected_gene': 'ALKBH1', 'score': 15.29}, {'connected_gene': 'ZMYND19P1', 'score': 13.39}, {'connected_gene': 'RPL22P2', 'score': 13.22}, {'connected_gene': 'VIPAS39', 'score': 13.22}, {'connected_gene': 'VASH1', 'score': 11.45}, {'connected_gene': 'ENSG00000243225', 'score': 11.42}, {'connected_gene': 'LINC02288', 'score': 11.11}, {'connected_gene': 'ENSG00000259081', 'score': 11.08}, {'connected_gene': 'RPL21P10', 'score': 10.47}, {'connected_gene': 'GPATCH2L', 'score': 10.22}, {'connected_gene': 'ANGEL1', 'score': 4.47}, {'connected_gene': 'LRRC74A', 'score': 3.89}, {'connected_gene': 'ENSG00000259058', 'score': 0.29}]
chr14 GH14I076227 76227518 76227667 0.54 [{'connected_gene': 'LOC105370575', 'score': 0.44}, {'connected_gene': 'GC14P076212', 'score': 0.39}, {'connected_gene': 'GPATCH2L', 'score': 0.18}]
chr14 GH14I076090 76090713 76091675 0.72 [{'connected_gene': 'LOC102724153', 'score': 4.71}, {'connected_gene': 'PIR42300', 'score': 0.44}, {'connected_gene': 'GPATCH2L', 'score': 0.21}]
chr14 GH14I076197 76197692 76197935 0.4 [{'connected_gene': 'GC14P076196', 'score': 550.77}, {'connected_gene': 'GC14P076200', 'score': 0.77}, {'connected_gene': 'GC14P076173', 'score': 0.34}, {'connected_gene': 'GPATCH2L', 'score': 0.25}]
chr14 GH14I076087 76087988 76090172 0.38 [{'connected_gene': 'PIR42300', 'score': 0.77}, {'connected_gene': 'GPATCH2L', 'score': 0.21}]
chr14 GH14I076114 76114756 76115347 0.38 [{'connected_gene': 'PIR42300', 'score': 0.31}, {'connected_gene': 'GPATCH2L', 'score': 0.28}]
chr14 GH14I076186 76186378 76186547 0.7 [{'connected_gene': 'GC14P076196', 'score': 0.44}, {'connected_gene': 'GC14P076173', 'score': 0.39}, {'connected_gene': 'GPATCH2L', 'score': 0.29}]
chr14 GH14I076085 76085272 76087712 0.2 [{'connected_gene': 'PIR42300', 'score': 550.77}, {'connected_gene': 'IFT43', 'score': 7.74}, {'connected_gene': 'GPATCH2L', 'score': 0.2}]

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