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
ENST00000606214 [[13266773, 13268067], [13305293, 13305419], [13306629, 13306759], [13307831, 13307977], [13316802, 13316940], [13321139, 13321327], [13325325, 13325406], [13327018, 13327144]] [[13305332, 13305419], [13306629, 13306759], [13307831, 13307977], [13316802, 13316940], [13321139, 13321327], [13325325, 13325406], [13327018, 13327130]]
ENST00000421203 [[13275080, 13275780], [13281660, 13281785], [13295027, 13295130], [13316802, 13316940], [13321139, 13321327], [13325325, 13325406], [13327018, 13327138], [13328687, 13328776]] [[13295109, 13295130], [13316802, 13316940], [13321139, 13321327], [13325325, 13325406], [13327018, 13327130]]
ENST00000379300 [[13305182, 13305419], [13306629, 13306759], [13307831, 13307977], [13316802, 13316940], [13321139, 13321327], [13325325, 13325406], [13327018, 13327138], [13328527, 13328763]] [[13305332, 13305419], [13306629, 13306759], [13307831, 13307977], [13316802, 13316940], [13321139, 13321327], [13325325, 13325406], [13327018, 13327130]]
ENST00000356436 [[13305182, 13305419], [13306629, 13306759], [13307831, 13307977], [13316802, 13316940], [13321139, 13321327], [13325325, 13325406], [13327018, 13327138], [13328687, 13328763]] [[13305332, 13305419], [13306629, 13306759], [13307831, 13307977], [13316802, 13316940], [13321139, 13321327], [13325325, 13325406], [13327018, 13327130]]
ENST00000379307 [[13305185, 13305419], [13306629, 13306759], [13307831, 13307977], [13316802, 13316940], [13321139, 13321327], [13327018, 13327138], [13328687, 13328776]] [[13305332, 13305419], [13306629, 13306759], [13307831, 13307977], [13316802, 13316940], [13321139, 13321327], [13327018, 13327130]]
ENST00000343141 [[13305308, 13305419], [13306629, 13306759], [13307831, 13307977], [13321139, 13321327], [13325325, 13325406], [13327018, 13327138], [13328687, 13328737]] [[13305332, 13305419], [13306629, 13306759], [13307831, 13307977], [13321139, 13321327], [13325325, 13325406], [13327018, 13327130]]
ENST00000607658 [[13305849, 13306759], [13307827, 13307977], [13316802, 13316940], [13321139, 13321327], [13327018, 13327138], [13328547, 13328690]] [[13306747, 13306759], [13307827, 13307977], [13316802, 13316940], [13321139, 13321327], [13327018, 13327130]]
ENST00000450347 [[13306629, 13306759], [13307831, 13307977], [13316802, 13316940], [13321139, 13321327], [13327018, 13327138], [13328527, 13328763]] [[13306629, 13306759], [13307831, 13307977], [13316802, 13316940], [13321139, 13321327], [13327018, 13327130]]
ENST00000452989 [[13306629, 13306759], [13307831, 13307977], [13316802, 13316940], [13321139, 13321327], [13327018, 13327138], [13328547, 13328763]] [[13306629, 13306759], [13307831, 13307977], [13316802, 13316940], [13321139, 13321327], [13327018, 13327130]]
ENST00000422136 [[13306676, 13306759], [13307831, 13307977], [13316802, 13316940], [13321139, 13321327], [13325325, 13325406], [13327018, 13327138], [13328547, 13328763]] [[13306676, 13306759], [13307831, 13307977], [13316802, 13316940], [13321139, 13321327], [13325325, 13325406], [13327018, 13327130]]
ENST00000446018 [[13306722, 13306759], [13307831, 13307977], [13316802, 13316940], [13321139, 13321327], [13327018, 13327195], [13328687, 13328763]] [[13306722, 13306759], [13307831, 13307977], [13316802, 13316940], [13321139, 13321327], [13327018, 13327130]]
ENST00000607532 [[13306876, 13307977], [13316802, 13316940], [13321139, 13321327], [13325325, 13325406], [13327018, 13327138], [13328527, 13328776]] None
ENST00000420456 [[13307831, 13307977], [13316802, 13316940], [13321139, 13321327], [13327018, 13327195], [13327909, 13328050]] [[13307831, 13307977], [13316802, 13316940], [13321139, 13321327], [13327018, 13327130]]
ENST00000607208 [[13307945, 13307977], [13316802, 13316940], [13318329, 13318425], [13321139, 13321213]] None
ENST00000428109 [[13316852, 13316940], [13321139, 13321327], [13325325, 13325406], [13327018, 13327195], [13328064, 13328362]] [[13316852, 13316940], [13321139, 13321327], [13325325, 13325406], [13327018, 13327130]]
ENST00000416436 [[13316913, 13316940], [13321139, 13321327], [13325325, 13325406], [13327018, 13327138], [13328064, 13328362]] [[13316913, 13316940], [13321139, 13321327], [13325325, 13325406], [13327018, 13327130]]
ENST00000379291 [[13316929, 13316940], [13321139, 13321327], [13325325, 13325406], [13327018, 13327195], [13328527, 13328763]] [[13316929, 13316940], [13321139, 13321327], [13325325, 13325406], [13327018, 13327130]]
ENST00000606370 [[13318949, 13321327], [13327018, 13327138], [13328687, 13328787]] [[13320944, 13321327], [13327018, 13327130]]
ENST00000606541 [[13321063, 13321327], [13325325, 13325406], [13327018, 13327144]] [[13321063, 13321327], [13325325, 13325406], [13327018, 13327130]]
ENST00000607230 [[13323942, 13324010], [13325325, 13325406], [13327018, 13327138], [13328547, 13328815]] [[13323942, 13324010], [13325325, 13325406], [13327018, 13327130]]
ENST00000606530 [[13327069, 13327138], [13328064, 13328564]] [[13327069, 13327130]]
NM_016495 [[13305182, 13305419], [13306629, 13306759], [13307831, 13307977], [13316802, 13316940], [13321139, 13321327], [13325325, 13325406], [13327018, 13327138], [13328527, 13328815]] [[13305332, 13305419], [13306629, 13306759], [13307831, 13307977], [13316802, 13316940], [13321139, 13321327], [13325325, 13325406], [13327018, 13327130]]
NM_001143964 [[13305182, 13305419], [13306629, 13306759], [13307831, 13307977], [13316802, 13316940], [13321139, 13321327], [13325325, 13325406], [13327018, 13327138], [13328547, 13328815]] [[13305332, 13305419], [13306629, 13306759], [13307831, 13307977], [13316802, 13316940], [13321139, 13321327], [13325325, 13325406], [13327018, 13327130]]
NM_001318805 [[13305182, 13305419], [13306629, 13306759], [13307831, 13307977], [13316802, 13316940], [13321139, 13321327], [13325325, 13325406], [13327018, 13327195], [13328687, 13328815]] [[13305332, 13305419], [13306629, 13306759], [13307831, 13307977], [13316802, 13316940], [13321139, 13321327], [13325325, 13325406], [13327018, 13327130]]
NM_001143965 [[13305182, 13305419], [13306629, 13306759], [13307831, 13307977], [13316802, 13316940], [13321139, 13321327], [13325325, 13325406], [13327018, 13327138], [13328687, 13328815]] [[13305332, 13305419], [13306629, 13306759], [13307831, 13307977], [13316802, 13316940], [13321139, 13321327], [13325325, 13325406], [13327018, 13327130]]
NM_001258457 [[13305182, 13305419], [13306629, 13306759], [13307831, 13307977], [13321139, 13321327], [13325325, 13325406], [13327018, 13327138], [13328687, 13328815]] [[13305332, 13305419], [13306629, 13306759], [13307831, 13307977], [13321139, 13321327], [13325325, 13325406], [13327018, 13327130]]
NM_001143966 [[13305182, 13305419], [13306629, 13306759], [13307831, 13307977], [13316802, 13316940], [13321139, 13321327], [13327018, 13327138], [13328687, 13328815]] [[13305332, 13305419], [13306629, 13306759], [13307831, 13307977], [13316802, 13316940], [13321139, 13321327], [13327018, 13327130]]
NM_001318806 [[13318945, 13321327], [13327018, 13327138], [13328687, 13328815]] [[13320944, 13321327], [13327018, 13327130]]
Promoter
Chrom Start End Description
chr6 13328078 13328102 CAGE_peak_2_at_TBC1D7_5end
chr6 13328364 13328407 CAGE_peak_3_at_TBC1D7_5end
chr6 13328716 13328792 CAGE_peak_1_at_TBC1D7_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I013525 13525602 13528009 1.04 [{'connected_gene': 'GFOD1', 'score': 17.61}, {'connected_gene': 'TBC1D7', 'score': 15.89}, {'connected_gene': 'RPS4XP7', 'score': 0.44}, {'connected_gene': 'GC06P013550', 'score': 0.34}]
chr6 GH06I013353 13353685 13358727 1.4 [{'connected_gene': 'GFOD1', 'score': 11.6}, {'connected_gene': 'TBC1D7', 'score': 11.35}, {'connected_gene': 'SIRT5', 'score': 10.84}, {'connected_gene': 'GC06P013360', 'score': 0.77}, {'connected_gene': 'GC06M013357', 'score': 0.77}, {'connected_gene': 'LOC105374936', 'score': 0.44}, {'connected_gene': 'GC06P013319', 'score': 0.28}]
chr6 GH06I013424 13424961 13436204 1.6 [{'connected_gene': 'GFOD1', 'score': 28.71}, {'connected_gene': 'TBC1D7', 'score': 12.24}, {'connected_gene': 'GFOD1-AS1', 'score': 11.81}, {'connected_gene': 'SIRT5', 'score': 10.9}, {'connected_gene': 'RANBP9', 'score': 1.22}, {'connected_gene': 'GC06M013385', 'score': 0.34}, {'connected_gene': 'GC06M013422', 'score': 0.26}, {'connected_gene': 'GC06P013360', 'score': 0.2}, {'connected_gene': 'PIR51588', 'score': 0.2}]
chr6 GH06I013383 13383050 13384974 1.4 [{'connected_gene': 'GFOD1', 'score': 13.72}, {'connected_gene': 'TBC1D7', 'score': 13.69}, {'connected_gene': 'GFOD1-AS1', 'score': 11.3}, {'connected_gene': 'SIRT5', 'score': 10.38}, {'connected_gene': 'PIR51588', 'score': 0.37}, {'connected_gene': 'GC06P013360', 'score': 0.34}, {'connected_gene': 'GC06M013385', 'score': 0.2}]
chr6 GH06I013453 13453449 13456287 1.6 [{'connected_gene': 'GFOD1', 'score': 15.63}, {'connected_gene': 'GFOD1-AS1', 'score': 12.18}, {'connected_gene': 'SIRT5', 'score': 11.48}, {'connected_gene': 'TBC1D7', 'score': 8.29}, {'connected_gene': 'RANBP9', 'score': 1.27}, {'connected_gene': 'GC06M013385', 'score': 0.77}, {'connected_gene': 'GC06M013422', 'score': 0.37}]
chr6 GH06I013411 13411001 13415373 1.3 [{'connected_gene': 'GFOD1', 'score': 26.62}, {'connected_gene': 'GFOD1-AS1', 'score': 11.32}, {'connected_gene': 'SIRT5', 'score': 10.91}, {'connected_gene': 'TBC1D7', 'score': 10.61}, {'connected_gene': 'GC06M013385', 'score': 0.28}, {'connected_gene': 'PIR51588', 'score': 0.25}, {'connected_gene': 'GC06P013360', 'score': 0.23}]
chr6 GH06I013461 13461402 13463739 1.3 [{'connected_gene': 'GFOD1', 'score': 20.59}, {'connected_gene': 'GFOD1-AS1', 'score': 12.72}, {'connected_gene': 'SIRT5', 'score': 10.91}, {'connected_gene': 'TBC1D7', 'score': 10.17}, {'connected_gene': 'GC06M013422', 'score': 0.44}, {'connected_gene': 'GC06M013385', 'score': 0.39}]
chr6 GH06I013450 13449505 13449728 0.6 [{'connected_gene': 'GFOD1', 'score': 14.23}, {'connected_gene': 'GFOD1-AS1', 'score': 12.11}, {'connected_gene': 'SIRT5', 'score': 11.23}, {'connected_gene': 'TBC1D7', 'score': 5.41}, {'connected_gene': 'GC06M013385', 'score': 0.77}, {'connected_gene': 'GC06M013422', 'score': 0.34}, {'connected_gene': 'PIR51588', 'score': 0.18}]
chr6 GH06I013419 13419401 13424249 1.52 [{'connected_gene': 'GFOD1', 'score': 576.99}, {'connected_gene': 'GFOD1-AS1', 'score': 11.24}, {'connected_gene': 'SIRT5', 'score': 10.79}, {'connected_gene': 'TBC1D7', 'score': 10.43}, {'connected_gene': 'GC06M013385', 'score': 0.29}, {'connected_gene': 'GC06M013422', 'score': 0.25}, {'connected_gene': 'PIR51588', 'score': 0.22}, {'connected_gene': 'GC06P013360', 'score': 0.21}]
chr6 GH06I013394 13394774 13398900 1.74 [{'connected_gene': 'GFOD1', 'score': 30.01}, {'connected_gene': 'GFOD1-AS1', 'score': 11.86}, {'connected_gene': 'SIRT5', 'score': 10.84}, {'connected_gene': 'TBC1D7', 'score': 5.71}, {'connected_gene': 'PIR51588', 'score': 0.29}, {'connected_gene': 'GC06P013360', 'score': 0.28}, {'connected_gene': 'GC06M013385', 'score': 0.22}]
chr6 GH06I013671 13671645 13671939 0.97 [{'connected_gene': 'TBC1D7', 'score': 14.63}, {'connected_gene': 'CD83', 'score': 11.87}, {'connected_gene': 'RANBP9', 'score': 11.6}, {'connected_gene': 'GFOD1', 'score': 3.55}, {'connected_gene': 'GC06P013623', 'score': 0.25}]
chr6 GH06I013271 13271872 13276610 1.71 [{'connected_gene': 'TBC1D7', 'score': 21.49}, {'connected_gene': 'RPL15P3', 'score': 14.44}, {'connected_gene': 'ENSG00000215022', 'score': 12.72}, {'connected_gene': 'SIRT5', 'score': 10.26}, {'connected_gene': 'ENSG00000272379', 'score': 7.9}, {'connected_gene': 'PHACTR1', 'score': 4.3}, {'connected_gene': 'PIR62166', 'score': 0.44}, {'connected_gene': 'LOC105374933', 'score': 0.26}]
chr6 GH06I013327 13327380 13329604 2.03 [{'connected_gene': 'TBC1D7', 'score': 577.02}, {'connected_gene': 'RPL15P3', 'score': 12.48}, {'connected_gene': 'SIRT5', 'score': 9.52}, {'connected_gene': 'GC06P013321', 'score': 0.44}, {'connected_gene': 'GC06P013319', 'score': 0.44}]
chr6 GH06I013300 13300072 13300300 0.36 [{'connected_gene': 'TBC1D7', 'score': 39.41}, {'connected_gene': 'ENSG00000272379', 'score': 10.85}, {'connected_gene': 'GFOD1', 'score': 3.58}, {'connected_gene': 'LOC100130357', 'score': 0.77}, {'connected_gene': 'GC06P013319', 'score': 0.37}]
chr6 GH06I013307 13307016 13308575 1.48 [{'connected_gene': 'TBC1D7', 'score': 31.74}, {'connected_gene': 'ENSG00000272379', 'score': 11.55}, {'connected_gene': 'RNU1-11P', 'score': 11.12}, {'connected_gene': 'GFOD1', 'score': 3.63}, {'connected_gene': 'LOC100130357', 'score': 0.39}, {'connected_gene': 'GC06P013319', 'score': 0.39}]
chr6 GH06I013258 13258758 13263105 1.48 [{'connected_gene': 'TBC1D7', 'score': 21.08}, {'connected_gene': 'RNU1-11P', 'score': 12.05}, {'connected_gene': 'ENSG00000215022', 'score': 7.4}, {'connected_gene': 'PHACTR1', 'score': 6.55}, {'connected_gene': 'GFOD1', 'score': 2.23}, {'connected_gene': 'RANBP9', 'score': 1.22}, {'connected_gene': 'PIR62166', 'score': 0.34}, {'connected_gene': 'LOC105374933', 'score': 0.29}]
chr6 GH06I013336 13336401 13337001 1.02 [{'connected_gene': 'TBC1D7', 'score': 21.57}, {'connected_gene': 'SIRT5', 'score': 11.59}, {'connected_gene': 'GFOD1', 'score': 11.21}, {'connected_gene': 'GFOD1-AS1', 'score': 11.16}, {'connected_gene': 'LOC105374936', 'score': 0.39}, {'connected_gene': 'GC06P013321', 'score': 0.37}, {'connected_gene': 'GC06P013319', 'score': 0.37}]
chr6 GH06I013337 13337801 13338751 0.4 [{'connected_gene': 'TBC1D7', 'score': 14.35}, {'connected_gene': 'SIRT5', 'score': 11.59}, {'connected_gene': 'GFOD1', 'score': 11.21}, {'connected_gene': 'GFOD1-AS1', 'score': 11.16}, {'connected_gene': 'LOC105374936', 'score': 0.39}, {'connected_gene': 'GC06P013321', 'score': 0.37}, {'connected_gene': 'GC06P013319', 'score': 0.37}]
chr6 GH06I013301 13301287 13305712 1.75 [{'connected_gene': 'TBC1D7', 'score': 61.29}, {'connected_gene': 'ENSG00000215022', 'score': 16.09}, {'connected_gene': 'ENSG00000272379', 'score': 10.25}, {'connected_gene': 'SIRT5', 'score': 10.08}, {'connected_gene': 'GFOD1', 'score': 5.27}, {'connected_gene': 'LOC100130357', 'score': 0.44}, {'connected_gene': 'GC06P013319', 'score': 0.37}]
chr6 GH06I013035 13035278 13035681 0.2 [{'connected_gene': 'TBC1D7', 'score': 10.45}, {'connected_gene': 'GC06M012692', 'score': 0.2}, {'connected_gene': 'GC06P013134', 'score': 0.15}, {'connected_gene': 'PHACTR1', 'score': 0.06}]
chr6 GH06I013269 13269309 13269378 0.67 [{'connected_gene': 'TBC1D7', 'score': 10.91}, {'connected_gene': 'PIR62166', 'score': 0.39}, {'connected_gene': 'ENSG00000215022', 'score': 0.31}, {'connected_gene': 'LOC105374933', 'score': 0.28}, {'connected_gene': 'PHACTR1', 'score': 0.03}]
chr6 GH06I013277 13277308 13278538 0.72 [{'connected_gene': 'TBC1D7', 'score': 19.51}, {'connected_gene': 'ENSG00000215022', 'score': 12.76}, {'connected_gene': 'PIR62166', 'score': 0.77}, {'connected_gene': 'LOC105374933', 'score': 0.25}, {'connected_gene': 'PHACTR1', 'score': 0.03}]
chr6 GH06I013248 13248000 13248401 0.68 [{'connected_gene': 'TBC1D7', 'score': 11.02}, {'connected_gene': 'LOC105374933', 'score': 0.37}, {'connected_gene': 'PIR62166', 'score': 0.29}, {'connected_gene': 'PHACTR1', 'score': 0.03}]
chr6 GH06I013280 13280121 13281018 0.4 [{'connected_gene': 'TBC1D7', 'score': 19.58}, {'connected_gene': 'ENSG00000215022', 'score': 13.42}, {'connected_gene': 'ENSG00000272379', 'score': 11.82}, {'connected_gene': 'PIR62166', 'score': 0.77}, {'connected_gene': 'LOC100130357', 'score': 0.37}, {'connected_gene': 'LOC105374933', 'score': 0.23}, {'connected_gene': 'PHACTR1', 'score': 0.03}]
chr6 GH06I013279 13279189 13279358 0.4 [{'connected_gene': 'TBC1D7', 'score': 19.58}, {'connected_gene': 'ENSG00000215022', 'score': 12.94}, {'connected_gene': 'ENSG00000272379', 'score': 10.96}, {'connected_gene': 'PIR62166', 'score': 0.77}, {'connected_gene': 'LOC100130357', 'score': 0.37}, {'connected_gene': 'LOC105374933', 'score': 0.25}, {'connected_gene': 'PHACTR1', 'score': 0.03}]
chr6 GH06I013335 13335009 13335158 0.67 [{'connected_gene': 'SIRT5', 'score': 10.54}, {'connected_gene': 'GFOD1', 'score': 10.18}, {'connected_gene': 'TBC1D7', 'score': 0.44}, {'connected_gene': 'GC06P013321', 'score': 0.39}, {'connected_gene': 'LOC105374936', 'score': 0.37}, {'connected_gene': 'GC06P013319', 'score': 0.37}]
chr6 GH06I013351 13351058 13351838 0.31 [{'connected_gene': 'LOC105374936', 'score': 550.77}, {'connected_gene': 'TBC1D7', 'score': 27.06}, {'connected_gene': 'SIRT5', 'score': 10.63}, {'connected_gene': 'GFOD1', 'score': 10.54}, {'connected_gene': 'GC06P013360', 'score': 0.44}, {'connected_gene': 'GC06P013319', 'score': 0.29}]
chr6 GH06I013708 13708088 13713473 2.58 [{'connected_gene': 'RANBP9', 'score': 564.44}, {'connected_gene': 'SIRT5', 'score': 19.51}, {'connected_gene': 'MCUR1', 'score': 5.84}, {'connected_gene': 'CD83', 'score': 1.37}, {'connected_gene': 'TBC1D7', 'score': 1.26}, {'connected_gene': 'GC06P013623', 'score': 0.17}]
chr6 GH06I013636 13636001 13636739 0.92 [{'connected_gene': 'RANBP9', 'score': 11.2}, {'connected_gene': 'SIRT5', 'score': 11.02}, {'connected_gene': 'TBC1D7', 'score': 6.46}, {'connected_gene': 'CD83', 'score': 4.73}, {'connected_gene': 'GFOD1', 'score': 1.56}, {'connected_gene': 'GC06P013623', 'score': 0.39}]
chr6 GH06I013294 13294038 13295953 0.2 [{'connected_gene': 'ENSG00000215022', 'score': 564.38}, {'connected_gene': 'TBC1D7', 'score': 23.9}, {'connected_gene': 'PHACTR1', 'score': 7.66}, {'connected_gene': 'LOC100130357', 'score': 0.77}, {'connected_gene': 'ENSG00000272379', 'score': 0.77}]
chr6 GH06I013289 13289171 13290706 1.12 [{'connected_gene': 'ENSG00000272379', 'score': 565.12}, {'connected_gene': 'TBC1D7', 'score': 11.35}, {'connected_gene': 'ENSG00000215022', 'score': 0.44}, {'connected_gene': 'LOC100130357', 'score': 0.44}, {'connected_gene': 'PIR51554', 'score': 0.44}, {'connected_gene': 'PHACTR1', 'score': 0.03}]
chr6 GH06I013281 13281693 13282312 0.2 [{'connected_gene': 'PIR62166', 'score': 550.77}, {'connected_gene': 'ENSG00000215022', 'score': 13.57}, {'connected_gene': 'TBC1D7', 'score': 11.94}, {'connected_gene': 'LOC100130357', 'score': 0.37}, {'connected_gene': 'LOC105374933', 'score': 0.23}, {'connected_gene': 'PHACTR1', 'score': 0.03}]
chr6 GH06I013284 13284791 13286112 0.31 [{'connected_gene': 'PIR51554', 'score': 550.77}, {'connected_gene': 'PHACTR1', 'score': 8.18}, {'connected_gene': 'ENSG00000215022', 'score': 7.83}, {'connected_gene': 'ENSG00000272379', 'score': 0.44}, {'connected_gene': 'LOC100130357', 'score': 0.39}, {'connected_gene': 'TBC1D7', 'score': 0.26}]

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