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
ENST00000265080 [[80256490, 80256845], [80338695, 80338802], [80363850, 80363998], [80366310, 80366400], [80369017, 80369271], [80375939, 80376019], [80376414, 80376608], [80381620, 80381730], [80382653, 80382772], [80388619, 80388780], [80390114, 80390181], [80390674, 80390811], [80404814, 80404897], [80408428, 80408677], [80409356, 80409739], [80419460, 80419586], [80422892, 80422982], [80475993, 80476100], [80497148, 80497261], [80502663, 80502724], [80503064, 80503168], [80504172, 80504257], [80508184, 80508382], [80511694, 80511774], [80513174, 80513292], [80515528, 80515597], [80521496, 80525975]] [[80256557, 80256845], [80338695, 80338802], [80363850, 80363998], [80366310, 80366400], [80369017, 80369271], [80375939, 80376019], [80376414, 80376608], [80381620, 80381730], [80382653, 80382772], [80388619, 80388780], [80390114, 80390181], [80390674, 80390811], [80404814, 80404897], [80408428, 80408677], [80409356, 80409739], [80419460, 80419586], [80422892, 80422982], [80475993, 80476100], [80497148, 80497261], [80502663, 80502724], [80503064, 80503168], [80504172, 80504257], [80508184, 80508382], [80511694, 80511774], [80513174, 80513292], [80515528, 80515597], [80521496, 80521589]]
ENST00000503795 [[80256507, 80256845], [80338695, 80338802], [80363850, 80363998], [80366310, 80366400], [80369017, 80369271], [80375939, 80376019], [80376414, 80376608], [80381620, 80381730], [80382653, 80382772], [80388619, 80388780], [80390114, 80390181], [80390674, 80390811], [80404814, 80404897], [80408428, 80408677], [80409356, 80409739], [80419460, 80419586], [80422892, 80422982], [80475993, 80476100], [80497148, 80497261], [80502663, 80502724], [80503064, 80503168], [80504172, 80504257], [80508184, 80508382], [80511694, 80511774], [80512782, 80512813], [80513174, 80513292], [80515528, 80515597], [80521496, 80521631]] [[80256557, 80256845], [80338695, 80338802], [80363850, 80363998], [80366310, 80366400], [80369017, 80369271], [80375939, 80376019], [80376414, 80376608], [80381620, 80381730], [80382653, 80382772], [80388619, 80388780], [80390114, 80390181], [80390674, 80390811], [80404814, 80404897], [80408428, 80408677], [80409356, 80409739], [80419460, 80419586], [80422892, 80422982], [80475993, 80476100], [80497148, 80497261], [80502663, 80502724], [80503064, 80503168], [80504172, 80504257], [80508184, 80508382], [80511694, 80511774], [80512782, 80512804]]
ENST00000514946 [[80315225, 80315404], [80338695, 80338802], [80363850, 80363998], [80366310, 80366400], [80369017, 80369041]] None
ENST00000502677 [[80365842, 80366400], [80369017, 80369271], [80375939, 80376019], [80376414, 80376608], [80381620, 80381730], [80382653, 80382772], [80382946, 80384383]] None
ENST00000512186 [[80388734, 80388780], [80390114, 80390181], [80390674, 80390811], [80391905, 80392325]] None
NM_006909 [[80256507, 80256845], [80338695, 80338802], [80363850, 80363998], [80366310, 80366400], [80369017, 80369271], [80375939, 80376019], [80376414, 80376608], [80381620, 80381730], [80382653, 80382772], [80388619, 80388780], [80390114, 80390181], [80390674, 80390811], [80404814, 80404897], [80408428, 80408677], [80409356, 80409739], [80419460, 80419586], [80422892, 80422982], [80475993, 80476100], [80497148, 80497261], [80502663, 80502724], [80503064, 80503168], [80504172, 80504257], [80508184, 80508382], [80511694, 80511774], [80513174, 80513292], [80515528, 80515597], [80521496, 80525981]] [[80256557, 80256845], [80338695, 80338802], [80363850, 80363998], [80366310, 80366400], [80369017, 80369271], [80375939, 80376019], [80376414, 80376608], [80381620, 80381730], [80382653, 80382772], [80388619, 80388780], [80390114, 80390181], [80390674, 80390811], [80404814, 80404897], [80408428, 80408677], [80409356, 80409739], [80419460, 80419586], [80422892, 80422982], [80475993, 80476100], [80497148, 80497261], [80502663, 80502724], [80503064, 80503168], [80504172, 80504257], [80508184, 80508382], [80511694, 80511774], [80513174, 80513292], [80515528, 80515597], [80521496, 80521589]]
Promoter
Chrom Start End Description
chr5 80255958 80255991 CAGE_peak_3_at_RASGRF2_5end
chr5 80256152 80256157 CAGE_peak_4_at_RASGRF2_5end
chr5 80256173 80256188 CAGE_peak_1_at_RASGRF2_5end
chr5 80256453 80256506 CAGE_peak_2_at_RASGRF2_5end
chr5 80256513 80256530 CAGE_peak_5_at_RASGRF2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I080238 80238217 80240465 1.06 [{'connected_gene': 'RASGRF2', 'score': 6.99}, {'connected_gene': 'SERINC5', 'score': 5.24}, {'connected_gene': 'GC05P080147', 'score': 0.16}]
chr5 GH05I080233 80233773 80235677 0.38 [{'connected_gene': 'RASGRF2', 'score': 5.44}, {'connected_gene': 'SERINC5', 'score': 5.28}, {'connected_gene': 'GC05P080147', 'score': 0.17}]
chr5 GH05I080989 80989857 80991605 0.49 [{'connected_gene': 'RASGRF2', 'score': 6.67}, {'connected_gene': 'DHFR', 'score': 5.28}, {'connected_gene': 'ENSG00000251001', 'score': 0.44}, {'connected_gene': 'RASGRF2-AS1', 'score': 0.31}]
chr5 GH05I081005 81005808 81008022 0.96 [{'connected_gene': 'RASGRF2', 'score': 13.55}, {'connected_gene': 'RASGRF2-AS1', 'score': 11.61}, {'connected_gene': 'MSH3', 'score': 5.59}, {'connected_gene': 'ENSG00000251001', 'score': 0.44}, {'connected_gene': 'ENSG00000249772', 'score': 0.14}]
chr5 GH05I080959 80959121 80962239 1.92 [{'connected_gene': 'RASGRF2', 'score': 559.29}, {'connected_gene': 'RASGRF2-AS1', 'score': 550.77}, {'connected_gene': 'CKMT2-AS1', 'score': 11.9}, {'connected_gene': 'ENSG00000248794', 'score': 9.79}, {'connected_gene': 'MTX3', 'score': 9.72}, {'connected_gene': 'DHFR', 'score': 4.94}]
chr5 GH05I081020 81020396 81021111 0.64 [{'connected_gene': 'RASGRF2', 'score': 14.57}, {'connected_gene': 'RASGRF2-AS1', 'score': 11.46}, {'connected_gene': 'ENSG00000251001', 'score': 0.34}, {'connected_gene': 'ENSG00000249772', 'score': 0.16}]
chr5 GH05I080962 80962934 80965813 0.91 [{'connected_gene': 'RASGRF2', 'score': 9.24}, {'connected_gene': 'RASGRF2-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000251001', 'score': 0.29}]
chr5 GH05I080941 80941302 80942607 0.31 [{'connected_gene': 'DHFR', 'score': 5.25}, {'connected_gene': 'RASGRF2', 'score': 0.37}, {'connected_gene': 'RPS26P27', 'score': 0.17}]
chr5 GH05I080860 80860436 80862170 0.2 [{'connected_gene': 'DHFR', 'score': 22.66}, {'connected_gene': 'MSH3', 'score': 14.62}, {'connected_gene': 'RPS26P27', 'score': 0.44}, {'connected_gene': 'RASGRF2', 'score': 0.15}]
chr5 GH05I081212 81212252 81212989 0.6 [{'connected_gene': 'CKMT2', 'score': 11.8}, {'connected_gene': 'ENSG00000249772', 'score': 10.06}, {'connected_gene': 'ENSG00000248794', 'score': 9.84}, {'connected_gene': 'ATG10', 'score': 4.79}, {'connected_gene': 'GC05P081229', 'score': 0.39}, {'connected_gene': 'CKMT2-AS1', 'score': 0.17}, {'connected_gene': 'RASGRF2', 'score': 0.07}]
chr5 GH05I081004 81004001 81004600 0.2 [{'connected_gene': 'RASGRF2-AS1', 'score': 11.62}, {'connected_gene': 'RASGRF2', 'score': 11.62}, {'connected_gene': 'ENSG00000251001', 'score': 0.44}, {'connected_gene': 'ENSG00000249772', 'score': 0.14}]
chr5 GH05I080966 80966722 80969045 1.27 [{'connected_gene': 'RASGRF2-AS1', 'score': 6.59}, {'connected_gene': 'RASGRF2', 'score': 6.15}, {'connected_gene': 'ENSG00000251001', 'score': 0.29}]
chr5 GH05I080955 80955961 80958962 0.93 [{'connected_gene': 'ENSG00000249772', 'score': 10.05}, {'connected_gene': 'RASGRF2', 'score': 9.04}, {'connected_gene': 'RASGRF2-AS1', 'score': 0.77}, {'connected_gene': 'RPS26P27', 'score': 0.15}]
chr5 GH05I081076 81076812 81076929 0.24 [{'connected_gene': 'ENSG00000249772', 'score': 0.28}, {'connected_gene': 'ENSG00000251001', 'score': 0.18}, {'connected_gene': 'RASGRF2', 'score': 0.13}]
chr5 GH05I081108 81108542 81108671 0.6 [{'connected_gene': 'ENSG00000249772', 'score': 0.44}, {'connected_gene': 'ENSG00000251001', 'score': 0.14}, {'connected_gene': 'RASGRF2', 'score': 0.11}]
chr5 GH05I081043 81043802 81043951 0.56 [{'connected_gene': 'ENSG00000251001', 'score': 0.25}, {'connected_gene': 'ENSG00000249772', 'score': 0.19}, {'connected_gene': 'RASGRF2', 'score': 0.18}]
chr5 GH05I081126 81126001 81126200 0.64 [{'connected_gene': 'ENSG00000249772', 'score': 0.39}, {'connected_gene': 'GC05P081229', 'score': 0.15}, {'connected_gene': 'RASGRF2', 'score': 0.1}]
chr5 GH05I081141 81140963 81141741 0.31 [{'connected_gene': 'ENSG00000249772', 'score': 11.63}, {'connected_gene': 'GC05P081229', 'score': 0.18}, {'connected_gene': 'RASGRF2', 'score': 0.09}]
chr5 GH05I081140 81140542 81140691 0.38 [{'connected_gene': 'ENSG00000249772', 'score': 11.63}, {'connected_gene': 'GC05P081229', 'score': 0.17}, {'connected_gene': 'RASGRF2', 'score': 0.1}]
chr5 GH05I081107 81107194 81107211 0.22 [{'connected_gene': 'ENSG00000249772', 'score': 0.44}, {'connected_gene': 'ENSG00000251001', 'score': 0.14}, {'connected_gene': 'RASGRF2', 'score': 0.11}]
chr5 GH05I081194 81194924 81195599 1.23 [{'connected_gene': 'GC05P081229', 'score': 0.29}, {'connected_gene': 'ENSG00000249772', 'score': 0.18}, {'connected_gene': 'RASGRF2', 'score': 0.07}]
chr5 GH05I081164 81164274 81165596 0.67 [{'connected_gene': 'ENSG00000249772', 'score': 11.03}, {'connected_gene': 'GC05P081229', 'score': 0.21}, {'connected_gene': 'RASGRF2', 'score': 0.08}]
chr5 GH05I080885 80885145 80886173 0.72 [{'connected_gene': 'ENSG00000249772', 'score': 9.78}, {'connected_gene': 'DHFR', 'score': 8.92}, {'connected_gene': 'RPS26P27', 'score': 0.31}, {'connected_gene': 'RASGRF2', 'score': 0.18}]
chr5 GH05I081184 81184073 81185181 0.49 [{'connected_gene': 'ENSG00000249772', 'score': 11.08}, {'connected_gene': 'CKMT2', 'score': 10.88}, {'connected_gene': 'GC05P081229', 'score': 0.26}, {'connected_gene': 'RASGRF2', 'score': 0.07}]
chr5 GH05I081165 81165622 81165771 0.69 [{'connected_gene': 'ENSG00000249772', 'score': 11.03}, {'connected_gene': 'CKMT2', 'score': 10.05}, {'connected_gene': 'ENSG00000248794', 'score': 5.86}, {'connected_gene': 'GC05P081229', 'score': 0.21}, {'connected_gene': 'RASGRF2', 'score': 0.08}]
chr5 GH05I080998 80998601 80998800 0.31 [{'connected_gene': 'ENSG00000251001', 'score': 550.77}, {'connected_gene': 'RASGRF2-AS1', 'score': 11.73}, {'connected_gene': 'RASGRF2', 'score': 11.73}, {'connected_gene': 'ENSG00000249772', 'score': 0.13}]