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
ENST00000447870 [[42949622, 42949719], [42950943, 42951093], [42951237, 42951351], [42951669, 42951711], [42952069, 42952089], [42952519, 42952594], [42954353, 42954418]] [[42951254, 42951351], [42951669, 42951711], [42952069, 42952089], [42952519, 42952594], [42954353, 42954418]]
ENST00000477564 [[42949864, 42950048], [42950943, 42951093], [42951237, 42951351], [42951669, 42951711], [42952069, 42952089], [42952519, 42952594], [42954353, 42954463], [42956191, 42956271], [42967126, 42967907], [42968441, 42968535], [42969941, 42970387]] [[42950026, 42950048], [42950943, 42951093], [42951237, 42951351], [42951669, 42951711], [42952069, 42952089], [42952519, 42952594], [42954353, 42954463], [42956191, 42956271], [42967126, 42967143]]
ENST00000534080 [[42949890, 42950048], [42950943, 42951093], [42951237, 42951351], [42952069, 42952089], [42952519, 42952594], [42954353, 42954463], [42956191, 42956271], [42959394, 42959487], [42962309, 42962344], [42967126, 42967670]] None
ENST00000416156 [[42949923, 42950048], [42950943, 42951093], [42951237, 42951351], [42951669, 42951711], [42952053, 42952089], [42952519, 42952594], [42954353, 42954463], [42956191, 42956271], [42967126, 42967907], [42968441, 42968535], [42969941, 42970003]] [[42950026, 42950048], [42950943, 42951093], [42951237, 42951351], [42951669, 42951711], [42952053, 42952089], [42952519, 42952551]]
ENST00000340239 [[42949924, 42950048], [42950943, 42951093], [42951237, 42951351], [42951669, 42951711], [42952069, 42952089], [42952519, 42952594], [42954353, 42954463], [42967126, 42967209], [42968441, 42968535], [42969941, 42970388]] [[42950026, 42950048], [42950943, 42951093], [42951237, 42951351], [42951669, 42951711], [42952069, 42952089], [42952519, 42952594], [42954353, 42954463], [42967126, 42967205]]
ENST00000327678 [[42949924, 42950048], [42950943, 42951093], [42951237, 42951351], [42951669, 42951711], [42952069, 42952089], [42952519, 42952594], [42954353, 42954463], [42956191, 42956271], [42962309, 42962344], [42967126, 42967209], [42968441, 42968535], [42969941, 42970388]] [[42950026, 42950048], [42950943, 42951093], [42951237, 42951351], [42951669, 42951711], [42952069, 42952089], [42952519, 42952594], [42954353, 42954463], [42956191, 42956271], [42962309, 42962344], [42967126, 42967209], [42968441, 42968535], [42969941, 42970061]]
ENST00000527167 [[42949940, 42950048], [42950943, 42951093], [42951237, 42951351], [42951669, 42952089], [42952519, 42952594], [42954353, 42954463], [42967126, 42967209], [42968441, 42968535], [42969639, 42969751], [42969941, 42970387]] None
ENST00000407614 [[42950020, 42950048], [42950943, 42950957], [42956234, 42956271], [42962309, 42962344], [42967126, 42967209], [42968441, 42968535], [42969941, 42970171]] [[42950026, 42950048], [42950943, 42950957], [42956234, 42956271], [42962309, 42962344], [42967126, 42967209], [42968441, 42968535], [42969941, 42970061]]
ENST00000335879 [[42950026, 42950048], [42951237, 42951351], [42952069, 42952089], [42952519, 42952594], [42954353, 42954463], [42956191, 42956271], [42962309, 42962344], [42967126, 42967209], [42968441, 42968535], [42969941, 42970061]] [[42950026, 42950048], [42951237, 42951351], [42952069, 42952089], [42952519, 42952594], [42954353, 42954463], [42956191, 42956271], [42962309, 42962344], [42967126, 42967209], [42968441, 42968535], [42969941, 42970061]]
ENST00000472589 [[42950914, 42951093], [42951237, 42951351], [42951669, 42951972]] None
NM_001284334 [[42949867, 42950048], [42951237, 42951351], [42952069, 42952089], [42952519, 42952594], [42954353, 42954463], [42956191, 42956271], [42962309, 42962344], [42967126, 42967209], [42968441, 42968535], [42969941, 42970388]] [[42950026, 42950048], [42951237, 42951351], [42952069, 42952089], [42952519, 42952594], [42954353, 42954463], [42956191, 42956271], [42962309, 42962344], [42967126, 42967209], [42968441, 42968535], [42969941, 42970061]]
NR_104301 [[42949867, 42950048], [42950943, 42951093], [42951237, 42951351], [42951669, 42951711], [42952069, 42952089], [42952519, 42952594], [42954353, 42954463], [42956191, 42956271], [42967126, 42967907], [42968441, 42968535], [42969941, 42970388]] None
NM_014509 [[42949867, 42950048], [42950943, 42951093], [42951237, 42951351], [42951669, 42951711], [42952069, 42952089], [42952519, 42952594], [42954353, 42954463], [42956191, 42956271], [42962309, 42962344], [42967126, 42967209], [42968441, 42968535], [42969941, 42970388]] [[42950026, 42950048], [42950943, 42951093], [42951237, 42951351], [42951669, 42951711], [42952069, 42952089], [42952519, 42952594], [42954353, 42954463], [42956191, 42956271], [42962309, 42962344], [42967126, 42967209], [42968441, 42968535], [42969941, 42970061]]
NR_104300 [[42949867, 42950048], [42950943, 42951093], [42951237, 42951351], [42951669, 42951711], [42952053, 42952089], [42952519, 42952594], [42954353, 42954463], [42956191, 42956271], [42967126, 42967907], [42968441, 42968535], [42969941, 42970388]] None
Promoter
Chrom Start End Description
chr22 42949955 42949972 CAGE_peak_1_at_SERHL2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr22 GH22I042527 42527925 42530983 0.43 [{'connected_gene': 'RRP7BP', 'score': 18.68}, {'connected_gene': 'RRP7A', 'score': 13.16}, {'connected_gene': 'SMDT1', 'score': 4.62}, {'connected_gene': 'SERHL2', 'score': 0.39}, {'connected_gene': 'GC22P042549', 'score': 0.34}]
chr22 GH22I042536 42536248 42538481 1.31 [{'connected_gene': 'RRP7BP', 'score': 20.75}, {'connected_gene': 'RRP7A', 'score': 13.09}, {'connected_gene': 'SERHL2', 'score': 8.56}, {'connected_gene': 'SMDT1', 'score': 4.57}, {'connected_gene': 'CSDC2', 'score': 4.03}, {'connected_gene': 'GC22P042549', 'score': 0.39}]
chr22 GH22I042561 42561280 42563068 0.65 [{'connected_gene': 'RRP7BP', 'score': 15.18}, {'connected_gene': 'SERHL2', 'score': 11.15}, {'connected_gene': 'CYB5R3', 'score': 7.04}, {'connected_gene': 'RN7SKP80', 'score': 0.77}, {'connected_gene': 'GC22M042568', 'score': 0.77}, {'connected_gene': 'GC22M042542', 'score': 0.39}]
chr22 GH22I042608 42608244 42611664 1.29 [{'connected_gene': 'RRP7BP', 'score': 24.31}, {'connected_gene': 'CYB5R3', 'score': 19.14}, {'connected_gene': 'ATP5MGL', 'score': 11.63}, {'connected_gene': 'SERHL2', 'score': 1.79}, {'connected_gene': 'GC22P042614', 'score': 0.77}, {'connected_gene': 'POLDIP3', 'score': 0.44}, {'connected_gene': 'PIR37149', 'score': 0.39}]
chr22 GH22I042661 42661575 42663208 0.96 [{'connected_gene': 'POLDIP3', 'score': 22.08}, {'connected_gene': 'RRP7BP', 'score': 12.96}, {'connected_gene': 'CYB5R3', 'score': 11.32}, {'connected_gene': 'ARFGAP3', 'score': 10.41}, {'connected_gene': 'RN7SKP80', 'score': 10.31}, {'connected_gene': 'SERHL2', 'score': 6.41}, {'connected_gene': 'GC22M042670', 'score': 0.44}, {'connected_gene': 'GC22P042648', 'score': 0.39}]
chr22 GH22I042696 42696223 42700282 1.23 [{'connected_gene': 'POLDIP3', 'score': 20.25}, {'connected_gene': 'RPL5P34', 'score': 12.88}, {'connected_gene': 'NAGA', 'score': 12.55}, {'connected_gene': 'A4GALT', 'score': 10.55}, {'connected_gene': 'RN7SKP80', 'score': 9.94}, {'connected_gene': 'CYB5R3', 'score': 8.48}, {'connected_gene': 'SERHL2', 'score': 6.27}, {'connected_gene': 'GC22M042670', 'score': 0.31}]
chr22 GH22I042612 42612335 42616633 2.34 [{'connected_gene': 'POLDIP3', 'score': 600.25}, {'connected_gene': 'GC22P042618', 'score': 550.77}, {'connected_gene': 'GC22P042614', 'score': 550.77}, {'connected_gene': 'ENSG00000270022', 'score': 550.77}, {'connected_gene': 'GC22P042619', 'score': 550.77}, {'connected_gene': 'RNU12', 'score': 550.77}, {'connected_gene': 'RPL5P34', 'score': 48.24}, {'connected_gene': 'XRCC6', 'score': 42.23}, {'connected_gene': 'NAGA', 'score': 37.84}, {'connected_gene': 'RRP7BP', 'score': 23.91}, {'connected_gene': 'RN7SKP80', 'score': 21.78}, {'connected_gene': 'CYB5R3', 'score': 19.23}, {'connected_gene': 'FAM109B', 'score': 18.43}, {'connected_gene': 'SERHL2', 'score': 16.32}, {'connected_gene': 'ATP5MGL', 'score': 11.65}, {'connected_gene': 'ARFGAP3', 'score': 10.51}, {'connected_gene': 'PIR37149', 'score': 0.39}]
chr22 GH22I042718 42718972 42721201 1.7 [{'connected_gene': 'A4GALT', 'score': 588.2}, {'connected_gene': 'SERHL2', 'score': 4.31}, {'connected_gene': 'CYB5R3', 'score': 1.85}, {'connected_gene': 'GC22M042670', 'score': 0.25}]
chr22 GH22I042681 42681607 42685036 0.97 [{'connected_gene': 'A4GALT', 'score': 24.25}, {'connected_gene': 'CYB5R3', 'score': 20.36}, {'connected_gene': 'POLDIP3', 'score': 17.0}, {'connected_gene': 'SERHL2', 'score': 9.31}, {'connected_gene': 'GC22M042670', 'score': 0.39}]
chr22 GH22I042679 42679914 42681422 1.36 [{'connected_gene': 'A4GALT', 'score': 24.1}, {'connected_gene': 'CYB5R3', 'score': 19.09}, {'connected_gene': 'ARFGAP3', 'score': 17.93}, {'connected_gene': 'SERHL2', 'score': 5.32}, {'connected_gene': 'NFAM1', 'score': 3.11}, {'connected_gene': 'GC22M042670', 'score': 0.39}]
chr22 GH22I042685 42685565 42690470 1.55 [{'connected_gene': 'A4GALT', 'score': 14.11}, {'connected_gene': 'CYB5R3', 'score': 11.97}, {'connected_gene': 'SERHL2', 'score': 7.2}, {'connected_gene': 'TSPO', 'score': 6.13}, {'connected_gene': 'MCAT', 'score': 1.59}, {'connected_gene': 'GC22M042670', 'score': 0.37}]
chr22 GH22I042538 42538767 42539990 0.86 [{'connected_gene': 'RRP7A', 'score': 12.3}, {'connected_gene': 'RRP7BP', 'score': 9.22}, {'connected_gene': 'SERHL2', 'score': 8.42}, {'connected_gene': 'GC22P042549', 'score': 0.39}, {'connected_gene': 'GC22M042542', 'score': 0.39}]
chr22 GH22I042532 42532478 42534230 1.28 [{'connected_gene': 'RRP7A', 'score': 14.08}, {'connected_gene': 'RRP7BP', 'score': 5.19}, {'connected_gene': 'SERHL2', 'score': 0.39}, {'connected_gene': 'GC22P042549', 'score': 0.37}]
chr22 GH22I042518 42518735 42521321 2.17 [{'connected_gene': 'RRP7A', 'score': 567.0}, {'connected_gene': 'SERHL2', 'score': 550.77}, {'connected_gene': 'GC22P042518', 'score': 550.77}, {'connected_gene': 'RRP7BP', 'score': 15.44}, {'connected_gene': 'CSDC2', 'score': 4.51}, {'connected_gene': 'GC22P042549', 'score': 0.31}]
chr22 GH22I042664 42664894 42665643 0.65 [{'connected_gene': 'ATP5MGL', 'score': 12.48}, {'connected_gene': 'A4GALT', 'score': 12.37}, {'connected_gene': 'POLDIP3', 'score': 11.83}, {'connected_gene': 'ARFGAP3', 'score': 10.41}, {'connected_gene': 'CYB5R3', 'score': 8.89}, {'connected_gene': 'SERHL2', 'score': 6.81}, {'connected_gene': 'GC22M042670', 'score': 0.44}, {'connected_gene': 'GC22P042648', 'score': 0.37}]
chr22 GH22I042942 42942054 42944934 0.38 [{'connected_gene': 'ARFGAP3', 'score': 22.45}, {'connected_gene': 'PACSIN2', 'score': 11.96}, {'connected_gene': 'LOC100506679', 'score': 11.92}, {'connected_gene': 'SERHL2', 'score': 4.16}, {'connected_gene': 'GC22M042914', 'score': 0.77}, {'connected_gene': 'PIR35633', 'score': 0.26}]
chr22 GH22I042587 42587401 42588000 0.38 [{'connected_gene': 'SERHL2', 'score': 6.71}, {'connected_gene': 'PIR60192', 'score': 0.77}, {'connected_gene': 'PIR37149', 'score': 0.39}, {'connected_gene': 'POLDIP3', 'score': 0.31}]
chr22 GH22I042617 42617566 42618155 0.66 [{'connected_gene': 'SERHL2', 'score': 18.56}, {'connected_gene': 'A4GALT', 'score': 7.47}, {'connected_gene': 'RNU12', 'score': 0.77}, {'connected_gene': 'ENSG00000270022', 'score': 0.77}, {'connected_gene': 'ATP5MGL', 'score': 0.34}, {'connected_gene': 'CYB5R3', 'score': 0.29}]
chr22 GH22I042531 42531555 42531704 0.67 [{'connected_gene': 'SERHL2', 'score': 0.39}, {'connected_gene': 'RRP7A', 'score': 0.39}, {'connected_gene': 'GC22P042549', 'score': 0.37}]
chr22 GH22I042544 42544737 42545168 0.74 [{'connected_gene': 'SERHL2', 'score': 12.07}, {'connected_gene': 'GC22P042549', 'score': 0.77}, {'connected_gene': 'GC22M042542', 'score': 0.44}, {'connected_gene': 'RRP7A', 'score': 0.31}]
chr22 GH22I042603 42603809 42605159 0.31 [{'connected_gene': 'SERHL2', 'score': 18.48}, {'connected_gene': 'CYB5R3', 'score': 12.06}, {'connected_gene': 'PIR37149', 'score': 0.77}, {'connected_gene': 'POLDIP3', 'score': 0.39}, {'connected_gene': 'GC22P042614', 'score': 0.39}]
chr22 GH22I042385 42385816 42385942 0.44 [{'connected_gene': 'SERHL2', 'score': 1.46}, {'connected_gene': 'GC22M042646', 'score': 0.44}, {'connected_gene': 'GC22P042375', 'score': 0.39}, {'connected_gene': 'NFAM1', 'score': 0.23}]
chr22 GH22I042552 42552907 42554533 1.9 [{'connected_gene': 'SERHL2', 'score': 561.76}, {'connected_gene': 'RN7SKP80', 'score': 14.9}, {'connected_gene': 'POLDIP3', 'score': 14.44}, {'connected_gene': 'RPL5P34', 'score': 10.72}, {'connected_gene': 'XRCC6', 'score': 10.01}, {'connected_gene': 'CYB5R3', 'score': 7.3}, {'connected_gene': 'GC22P042549', 'score': 0.77}, {'connected_gene': 'GC22M042542', 'score': 0.77}, {'connected_gene': 'GC22M042568', 'score': 0.39}]
chr22 GH22I043480 43480001 43480400 0.38 [{'connected_gene': 'SERHL2', 'score': 4.2}, {'connected_gene': 'GC22P043447', 'score': 0.29}, {'connected_gene': 'EFCAB6-AS1', 'score': 0.28}, {'connected_gene': 'MPPED1', 'score': 0.2}]
chr22 GH22I042641 42641074 42650330 2.25 [{'connected_gene': 'CYB5R3', 'score': 560.95}, {'connected_gene': 'RRP7BP', 'score': 18.14}, {'connected_gene': 'RPL5P34', 'score': 12.82}, {'connected_gene': 'SERHL2', 'score': 11.26}, {'connected_gene': 'POLDIP3', 'score': 10.06}, {'connected_gene': 'RN7SKP80', 'score': 10.0}, {'connected_gene': 'A4GALT', 'score': 9.85}, {'connected_gene': 'GC22P042648', 'score': 0.77}, {'connected_gene': 'ATP5MGL', 'score': 0.44}]
chr22 GH22I042635 42635045 42637065 1 [{'connected_gene': 'CYB5R3', 'score': 11.32}, {'connected_gene': 'A4GALT', 'score': 10.03}, {'connected_gene': 'SERHL2', 'score': 7.29}, {'connected_gene': 'ATP5MGL', 'score': 0.77}, {'connected_gene': 'RNU12', 'score': 0.34}, {'connected_gene': 'ENSG00000270022', 'score': 0.34}]
chr22 GH22I042637 42637247 42638169 0.2 [{'connected_gene': 'CYB5R3', 'score': 9.97}, {'connected_gene': 'SERHL2', 'score': 7.21}, {'connected_gene': 'ATP5MGL', 'score': 0.77}, {'connected_gene': 'RNU12', 'score': 0.34}, {'connected_gene': 'ENSG00000270022', 'score': 0.34}]
chr22 GH22I042565 42565000 42565401 0.38 [{'connected_gene': 'RN7SKP80', 'score': 550.77}, {'connected_gene': 'GC22M042568', 'score': 550.77}, {'connected_gene': 'RRP7BP', 'score': 16.64}, {'connected_gene': 'GC22M042542', 'score': 0.39}, {'connected_gene': 'SERHL2', 'score': 0.25}]
chr22 GH22I042560 42560955 42561104 0.56 [{'connected_gene': 'RN7SKP80', 'score': 0.77}, {'connected_gene': 'GC22M042568', 'score': 0.77}, {'connected_gene': 'GC22M042542', 'score': 0.39}, {'connected_gene': 'RRP7BP', 'score': 0.34}, {'connected_gene': 'SERHL2', 'score': 0.26}]
chr22 GH22I042508 42508049 42509817 0.54 [{'connected_gene': 'GC22P042508', 'score': 550.77}, {'connected_gene': 'RRP7BP', 'score': 18.86}, {'connected_gene': 'RRP7A', 'score': 16.29}, {'connected_gene': 'SERHL2', 'score': 10.6}, {'connected_gene': 'CYB5R3', 'score': 4.97}, {'connected_gene': 'PIR44189', 'score': 0.77}, {'connected_gene': 'SERHL', 'score': 0.44}]
chr22 GH22I042551 42551069 42552784 1.03 [{'connected_gene': 'GC22M042542', 'score': 550.77}, {'connected_gene': 'RRP7BP', 'score': 14.01}, {'connected_gene': 'CYB5R3', 'score': 8.05}, {'connected_gene': 'GC22P042549', 'score': 0.77}, {'connected_gene': 'RN7SKP80', 'score': 0.39}, {'connected_gene': 'GC22M042568', 'score': 0.39}, {'connected_gene': 'SERHL2', 'score': 0.29}]
chr22 GH22I042671 42671025 42671948 1.24 [{'connected_gene': 'GC22M042670', 'score': 550.77}, {'connected_gene': 'A4GALT', 'score': 22.84}, {'connected_gene': 'CYB5R3', 'score': 12.35}, {'connected_gene': 'ATP5MGL', 'score': 12.0}, {'connected_gene': 'SERHL2', 'score': 5.94}, {'connected_gene': 'ARFGAP3', 'score': 3.13}, {'connected_gene': 'NFAM1', 'score': 1.75}, {'connected_gene': 'GC22P042648', 'score': 0.34}]
chr22 GH22I042584 42584289 42585670 0.2 [{'connected_gene': 'PIR60192', 'score': 550.77}, {'connected_gene': 'SERHL2', 'score': 18.8}, {'connected_gene': 'RRP7BP', 'score': 17.55}, {'connected_gene': 'CYB5R3', 'score': 7.43}, {'connected_gene': 'POLDIP3', 'score': 0.31}]
chr22 GH22I042549 42549245 42549814 0.38 [{'connected_gene': 'GC22P042549', 'score': 550.77}, {'connected_gene': 'GC22M042542', 'score': 550.77}, {'connected_gene': 'SERHL2', 'score': 11.95}, {'connected_gene': 'RRP7A', 'score': 0.31}]
chr22 GH22I043233 43231335 43231484 0.75 [{'connected_gene': 'ENSG00000234892', 'score': 550.77}, {'connected_gene': 'SERHL2', 'score': 4.95}, {'connected_gene': 'LOC105373051', 'score': 0.37}, {'connected_gene': 'SCUBE1', 'score': 0.14}]
chr22 GH22I042550 42550125 42550336 0.38 [{'connected_gene': 'GC22P042549', 'score': 550.77}, {'connected_gene': 'GC22M042542', 'score': 550.77}, {'connected_gene': 'SERHL2', 'score': 0.29}]
chr22 GH22I042553 42550895 42551044 0.31 [{'connected_gene': 'GC22P042549', 'score': 550.77}, {'connected_gene': 'GC22M042542', 'score': 550.77}, {'connected_gene': 'RN7SKP80', 'score': 0.39}, {'connected_gene': 'GC22M042568', 'score': 0.39}, {'connected_gene': 'SERHL2', 'score': 0.29}]

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