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
ENST00000425933 [[93586635, 93588935], [93595222, 93595737], [93616144, 93616260], [93616792, 93616939]] [[93588227, 93588935], [93595222, 93595737], [93616144, 93616226]]
ENST00000543599 [[93586635, 93588935], [93595222, 93595737], [93616144, 93616260], [93631509, 93631752]] [[93588227, 93588935], [93595222, 93595737], [93616144, 93616226]]
ENST00000329082 [[93586636, 93588935], [93595222, 93595737], [93616144, 93616260], [93632147, 93632433]] [[93588227, 93588935], [93595222, 93595737], [93616144, 93616260], [93632147, 93632161]]
ENST00000542321 [[93586645, 93588935], [93595222, 93595737], [93616144, 93616377]] [[93588227, 93588935], [93595222, 93595737], [93616144, 93616226]]
ENST00000554387 [[93586646, 93588935], [93595222, 93595737], [93609329, 93609484], [93616144, 93616260], [93616812, 93616909]] [[93609380, 93609484], [93616144, 93616226]]
ENST00000538818 [[93586646, 93588935], [93595222, 93595737], [93609329, 93609484], [93616144, 93616260], [93616812, 93616909]] [[93588227, 93588935], [93595222, 93595540]]
ENST00000557301 [[93588047, 93588935], [93595222, 93595737], [93616144, 93616260], [93616947, 93617092]] [[93588227, 93588935], [93595222, 93595737], [93616144, 93616260], [93616947, 93616985]]
ENST00000557420 [[93588176, 93588935], [93616144, 93616374]] [[93588876, 93588935], [93616144, 93616226]]
ENST00000556658 [[93588185, 93588935], [93595222, 93595737], [93609060, 93609488], [93616144, 93616260], [93616812, 93616892]] [[93588227, 93588935], [93595222, 93595540]]
ENST00000556087 [[93594511, 93595737], [93616144, 93616260], [93616947, 93617357]] [[93595198, 93595737], [93616144, 93616226]]
ENST00000555584 [[93595501, 93595737], [93605982, 93606298]] None
ENST00000555598 [[93595549, 93595737], [93616144, 93616260], [93631509, 93631752]] [[93595549, 93595737], [93616144, 93616226]]
ENST00000557608 [[93609234, 93609488], [93616144, 93616363]] None
ENST00000556950 [[93616195, 93616260], [93631627, 93631882]] [[93616195, 93616226]]
NM_001166286 [[93586635, 93588935], [93595222, 93595737], [93616144, 93616389]] [[93588227, 93588935], [93595222, 93595737], [93616144, 93616226]]
NM_001166289 [[93586635, 93588935], [93595222, 93595737], [93616144, 93616260], [93616792, 93616939]] [[93588227, 93588935], [93595222, 93595737], [93616144, 93616226]]
NM_001166288 [[93586635, 93588935], [93595222, 93595737], [93616144, 93616260], [93616812, 93616939]] [[93588227, 93588935], [93595222, 93595737], [93616144, 93616226]]
NM_001166283 [[93586635, 93588935], [93595222, 93595737], [93616144, 93616260], [93616947, 93617216]] [[93588227, 93588935], [93595222, 93595737], [93616144, 93616260], [93616947, 93616985]]
NM_001166287 [[93586635, 93588935], [93595222, 93595737], [93616144, 93616260], [93631509, 93631752]] [[93588227, 93588935], [93595222, 93595737], [93616144, 93616226]]
NM_020211 [[93586635, 93588935], [93595222, 93595737], [93616144, 93616260], [93632147, 93632443]] [[93588227, 93588935], [93595222, 93595737], [93616144, 93616260], [93632147, 93632161]]
Promoter
Chrom Start End Description
chr15 93616340 93616395 CAGE_peak_2_at_RGMA_5end
chr15 93616900 93616918 CAGE_peak_6_at_RGMA_5end
chr15 93632396 93632407 CAGE_peak_3_at_RGMA_5end
chr15 93632421 93632446 CAGE_peak_1_at_RGMA_5end
chr15 93632507 93632519 CAGE_peak_4_at_RGMA_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I093054 93054863 93058558 0.31 [{'connected_gene': 'RGMA', 'score': 11.44}, {'connected_gene': 'HMGN1P38', 'score': 5.47}, {'connected_gene': 'PIR34465', 'score': 0.77}, {'connected_gene': 'GC15M096242', 'score': 0.44}]
chr15 GH15I093069 93069598 93074519 2.01 [{'connected_gene': 'RGMA', 'score': 550.37}, {'connected_gene': 'CHD2', 'score': 16.19}, {'connected_gene': 'HMGN1P38', 'score': 10.37}, {'connected_gene': 'LOC100124334', 'score': 0.44}]
chr15 GH15I093456 93456943 93456949 0.22 [{'connected_gene': 'RGMA', 'score': 1.87}, {'connected_gene': 'PIR52663', 'score': 0.34}, {'connected_gene': 'GC15P096004', 'score': 0.31}, {'connected_gene': 'LOC105370982', 'score': 0.15}, {'connected_gene': 'ENSG00000257060', 'score': 0.11}]
chr15 GH15I093125 93125016 93127780 0.2 [{'connected_gene': 'RGMA', 'score': 12.59}, {'connected_gene': 'LOC101927025', 'score': 0.28}, {'connected_gene': 'LOC105370980', 'score': 0.18}]
chr15 GH15I093089 93089465 93090463 0.95 [{'connected_gene': 'RGMA', 'score': 553.85}, {'connected_gene': 'LOC101927025', 'score': 550.77}, {'connected_gene': 'LOC105370980', 'score': 0.13}]
chr15 GH15I093122 93122247 93123026 0.31 [{'connected_gene': 'RGMA', 'score': 11.09}, {'connected_gene': 'LOC101927025', 'score': 0.29}, {'connected_gene': 'LOC105370980', 'score': 0.18}]
chr15 GH15I093085 93085953 93089401 2.01 [{'connected_gene': 'RGMA', 'score': 550.77}, {'connected_gene': 'LOC101927025', 'score': 550.77}, {'connected_gene': 'LOC100124334', 'score': 0.34}]
chr15 GH15I093080 93080233 93081000 0.2 [{'connected_gene': 'RGMA', 'score': 0.44}, {'connected_gene': 'LOC100124334', 'score': 0.39}]
chr15 GH15I093082 93082885 93085569 0.31 [{'connected_gene': 'RGMA', 'score': 0.77}, {'connected_gene': 'LOC100124334', 'score': 0.37}]
chr15 GH15I093074 93074987 93079456 0.31 [{'connected_gene': 'RGMA', 'score': 0.39}, {'connected_gene': 'LOC100124334', 'score': 0.39}]
chr15 GH15I093068 93068692 93068866 1.2 [{'connected_gene': 'RGMA', 'score': 10.56}, {'connected_gene': 'LOC100124334', 'score': 0.77}]
chr15 GH15I093277 93277611 93277848 0.22 [{'connected_gene': 'RGMA', 'score': 2.16}, {'connected_gene': 'PIR60216', 'score': 0.44}, {'connected_gene': 'ENSG00000258888', 'score': 0.34}]
chr15 GH15I093027 93027273 93031268 1.52 [{'connected_gene': 'CHD2', 'score': 4.81}, {'connected_gene': 'RGMA', 'score': 2.0}, {'connected_gene': 'LOC105370979', 'score': 0.39}, {'connected_gene': 'MIR3175', 'score': 0.13}]
chr15 GH15I093047 93047277 93049342 1.03 [{'connected_gene': 'CHD2', 'score': 2.58}, {'connected_gene': 'PIR34465', 'score': 0.77}, {'connected_gene': 'PIR32225', 'score': 0.77}, {'connected_gene': 'RGMA', 'score': 0.26}]
chr15 GH15I093040 93040201 93040933 0.38 [{'connected_gene': 'LOC105370979', 'score': 550.77}, {'connected_gene': 'RGMA', 'score': 0.25}, {'connected_gene': 'MIR3175', 'score': 0.12}]
chr15 GH15I093036 93036601 93038554 1.25 [{'connected_gene': 'LOC105370979', 'score': 0.77}, {'connected_gene': 'RGMA', 'score': 0.23}, {'connected_gene': 'MIR3175', 'score': 0.12}]
chr15 GH15I093035 93035801 93036400 0.96 [{'connected_gene': 'LOC105370979', 'score': 0.44}, {'connected_gene': 'RGMA', 'score': 0.23}, {'connected_gene': 'MIR3175', 'score': 0.12}]
chr15 GH15I093060 93060424 93064378 1.12 [{'connected_gene': 'GC15M096242', 'score': 0.77}, {'connected_gene': 'PIR34465', 'score': 0.44}, {'connected_gene': 'RGMA', 'score': 0.31}]
chr15 GH15I093052 93052691 93052720 0.63 [{'connected_gene': 'PIR34465', 'score': 550.77}, {'connected_gene': 'GC15M096242', 'score': 0.39}, {'connected_gene': 'RGMA', 'score': 0.28}]
chr15 GH15I093050 93050391 93050460 0.4 [{'connected_gene': 'PIR34465', 'score': 0.77}, {'connected_gene': 'PIR32225', 'score': 0.77}, {'connected_gene': 'RGMA', 'score': 0.28}]
chr15 GH15I092816 92816736 92823636 2.3 [{'connected_gene': 'ENSG00000275175', 'score': 550.77}, {'connected_gene': 'CHD2', 'score': 41.07}, {'connected_gene': 'ASB9P1', 'score': 11.46}, {'connected_gene': 'ENSG00000260361', 'score': 10.08}, {'connected_gene': 'HMGN1P38', 'score': 9.8}, {'connected_gene': 'ENSG00000258922', 'score': 9.72}, {'connected_gene': 'RGMA', 'score': 3.79}, {'connected_gene': 'ST8SIA2', 'score': 2.09}, {'connected_gene': 'GC15P095996', 'score': 0.28}]
chr15 GH15I092588 92588206 92588532 0.22 [{'connected_gene': 'GC15P095914', 'score': 550.77}, {'connected_gene': 'GC15P095911', 'score': 550.77}, {'connected_gene': 'PIR38687', 'score': 550.77}, {'connected_gene': 'PIR42477', 'score': 550.77}, {'connected_gene': 'GC15P095935', 'score': 550.77}, {'connected_gene': 'PIR38317', 'score': 550.77}, {'connected_gene': 'GC15P095920', 'score': 550.77}, {'connected_gene': 'GC15P095946', 'score': 550.77}, {'connected_gene': 'GC15P095882', 'score': 550.77}, {'connected_gene': 'PIR55625', 'score': 550.77}, {'connected_gene': 'PIR51149', 'score': 550.77}, {'connected_gene': 'PIR33757', 'score': 550.77}, {'connected_gene': 'GC15P095952', 'score': 550.77}, {'connected_gene': 'PIR32563', 'score': 550.77}, {'connected_gene': 'PIR42503', 'score': 550.77}, {'connected_gene': 'PIR37352', 'score': 550.77}, {'connected_gene': 'GC15P095848', 'score': 550.77}, {'connected_gene': 'PIR41448', 'score': 550.77}, {'connected_gene': 'GC15P095887', 'score': 550.77}, {'connected_gene': 'PIR53052', 'score': 550.77}, {'connected_gene': 'PIR44269', 'score': 550.77}, {'connected_gene': 'PIR56617', 'score': 550.77}, {'connected_gene': 'GC15P095948', 'score': 550.77}, {'connected_gene': 'GC15P095906', 'score': 550.77}, {'connected_gene': 'GC15P095918', 'score': 550.77}, {'connected_gene': 'GC15P095933', 'score': 550.77}, {'connected_gene': 'GC15P095881', 'score': 550.77}, {'connected_gene': 'GC15P095947', 'score': 550.77}, {'connected_gene': 'GC15P095986', 'score': 550.77}, {'connected_gene': 'PIR42970', 'score': 550.77}, {'connected_gene': 'PIR41531', 'score': 550.77}, {'connected_gene': 'GC15P095985', 'score': 550.77}, {'connected_gene': 'PIR35062', 'score': 550.77}, {'connected_gene': 'GC15P095880', 'score': 550.77}, {'connected_gene': 'PIR40583', 'score': 550.77}, {'connected_gene': 'PIR43537', 'score': 550.77}, {'connected_gene': 'GC15P095888', 'score': 550.77}, {'connected_gene': 'GC15P095961', 'score': 550.77}, {'connected_gene': 'PIR45450', 'score': 550.77}, {'connected_gene': 'PIR53303', 'score': 550.77}, {'connected_gene': 'GC15P095865', 'score': 550.77}, {'connected_gene': 'GC15P095940', 'score': 550.77}, {'connected_gene': 'PIR41452', 'score': 550.77}, {'connected_gene': 'PIR43462', 'score': 550.77}, {'connected_gene': 'GC15P095987', 'score': 550.77}, {'connected_gene': 'GC15P095916', 'score': 550.77}, {'connected_gene': 'GC15P095970', 'score': 550.77}, {'connected_gene': 'GC15P095991', 'score': 550.77}, {'connected_gene': 'PIR46843', 'score': 550.77}, {'connected_gene': 'GC15P095910', 'score': 550.77}, {'connected_gene': 'GC15P095944', 'score': 550.77}, {'connected_gene': 'GC15P095862', 'score': 550.77}, {'connected_gene': 'PIR42154', 'score': 550.77}, {'connected_gene': 'GC15P095966', 'score': 550.77}, {'connected_gene': 'GC15P095905', 'score': 550.77}, {'connected_gene': 'GC15P095876', 'score': 550.77}, {'connected_gene': 'PIR35635', 'score': 550.77}, {'connected_gene': 'GC15P095872', 'score': 550.77}, {'connected_gene': 'PIR54047', 'score': 550.77}, {'connected_gene': 'PIR35094', 'score': 550.77}, {'connected_gene': 'PIR52229', 'score': 550.77}, {'connected_gene': 'PIR36195', 'score': 550.77}, {'connected_gene': 'PIR49870', 'score': 550.77}, {'connected_gene': 'PIR55242', 'score': 550.77}, {'connected_gene': 'PIR47825', 'score': 550.77}, {'connected_gene': 'GC15P095939', 'score': 550.77}, {'connected_gene': 'GC15P095945', 'score': 550.77}, {'connected_gene': 'PIR47798', 'score': 550.77}, {'connected_gene': 'GC15P095861', 'score': 550.77}, {'connected_gene': 'GC15P095868', 'score': 550.77}, {'connected_gene': 'C15orf32', 'score': 1.29}, {'connected_gene': 'FAM174B', 'score': 1.17}, {'connected_gene': 'RGMA', 'score': 1.12}, {'connected_gene': 'PIRC76', 'score': 0.37}, {'connected_gene': 'PIRC77', 'score': 0.28}]
chr15 GH15I093042 93042138 93046206 0.56 [{'connected_gene': 'PIR32225', 'score': 550.77}, {'connected_gene': 'LOC105370979', 'score': 0.77}, {'connected_gene': 'RGMA', 'score': 0.25}]