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
ENST00000555133 [[77924212, 77924325], [77925958, 77926149], [77928502, 77928585], [77928984, 77929102], [77930940, 77931029], [77931881, 77932010], [77934425, 77934527], [77934799, 77934851], [77935419, 77935590]] [[77929035, 77929102], [77930940, 77931029], [77931881, 77932010], [77934425, 77934527], [77934799, 77934851], [77935419, 77935590]]
ENST00000216479 [[77924372, 77924612], [77925958, 77926149], [77928502, 77928585], [77928984, 77929102], [77930940, 77931029], [77931881, 77932010], [77934425, 77934527], [77934799, 77934851], [77935419, 77935817]] [[77924532, 77924612], [77925958, 77926149], [77928502, 77928585], [77928984, 77929102], [77930940, 77931029], [77931881, 77932010], [77934425, 77934527], [77934799, 77934851], [77935419, 77935592]]
ENST00000535854 [[77924374, 77924612], [77925958, 77926149], [77928502, 77928585], [77928984, 77929102], [77930940, 77931029], [77931881, 77932010], [77934425, 77934527], [77934799, 77934851], [77934932, 77935103]] [[77924532, 77924612], [77925958, 77926149], [77928502, 77928585], [77928984, 77929102], [77930940, 77931029], [77931881, 77932010], [77934425, 77934527], [77934799, 77934851], [77934932, 77934955]]
ENST00000554156 [[77924375, 77924612], [77925958, 77926149], [77928502, 77928662]] None
ENST00000555517 [[77924379, 77924612], [77925958, 77926557]] [[77924532, 77924612], [77925958, 77926181]]
ENST00000556963 [[77924559, 77924612], [77925958, 77926149], [77928502, 77928585], [77928984, 77929444]] None
ENST00000556866 [[77926011, 77926149], [77928502, 77928585], [77928984, 77929102], [77930940, 77931033]] None
ENST00000553374 [[77926042, 77926149], [77928502, 77928585], [77928984, 77929102], [77930940, 77931029], [77931881, 77932010], [77934425, 77934662]] [[77926042, 77926149], [77928502, 77928585], [77928984, 77929102], [77930940, 77931029], [77931881, 77932010], [77934425, 77934548]]
ENST00000555457 [[77926087, 77926149], [77928502, 77928585], [77934425, 77934527], [77935419, 77935813]] None
ENST00000555729 [[77926123, 77926149], [77928502, 77928585], [77928984, 77929102], [77935419, 77935813]] [[77926123, 77926149], [77928502, 77928585], [77928984, 77929102], [77935419, 77935592]]
ENST00000555473 [[77930925, 77931029], [77931881, 77932010], [77934425, 77934527], [77934799, 77934851], [77935419, 77935593]] None
ENST00000556369 [[77931916, 77932010], [77934425, 77934527], [77934799, 77934851], [77934932, 77935032], [77935314, 77935815]] [[77931916, 77932010], [77934425, 77934527], [77934799, 77934851], [77934932, 77934955]]
ENST00000557476 [[77935138, 77935328], [77935419, 77935813]] [[77935138, 77935328], [77935419, 77935592]]
NM_001321441 [[77924219, 77924325], [77925958, 77926149], [77928502, 77928585], [77928984, 77929102], [77930940, 77931029], [77931881, 77932010], [77934425, 77934527], [77934799, 77934851], [77935419, 77935815]] [[77929035, 77929102], [77930940, 77931029], [77931881, 77932010], [77934425, 77934527], [77934799, 77934851], [77935419, 77935592]]
NM_012111 [[77924372, 77924612], [77925958, 77926149], [77928502, 77928585], [77928984, 77929102], [77930940, 77931029], [77931881, 77932010], [77934425, 77934527], [77934799, 77934851], [77935419, 77935815]] [[77924532, 77924612], [77925958, 77926149], [77928502, 77928585], [77928984, 77929102], [77930940, 77931029], [77931881, 77932010], [77934425, 77934527], [77934799, 77934851], [77935419, 77935592]]
Promoter
Chrom Start End Description
chr14 77924204 77924229 CAGE_peak_3_at_AHSA1_5end
chr14 77924394 77924451 CAGE_peak_1_at_AHSA1_5end
chr14 77924458 77924475 CAGE_peak_2_at_AHSA1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I077301 77301832 77308334 1.39 [{'connected_gene': 'VIPAS39', 'score': 24.31}, {'connected_gene': 'IRF2BPL', 'score': 16.36}, {'connected_gene': 'GSTZ1', 'score': 15.6}, {'connected_gene': 'ALKBH1', 'score': 13.09}, {'connected_gene': 'NGB', 'score': 11.62}, {'connected_gene': 'MIR1260A', 'score': 11.22}, {'connected_gene': 'ZDHHC22', 'score': 10.98}, {'connected_gene': 'ENSG00000201384', 'score': 10.97}, {'connected_gene': 'SAMD15', 'score': 10.85}, {'connected_gene': 'TMED8', 'score': 10.85}, {'connected_gene': 'AHSA1', 'score': 10.53}, {'connected_gene': 'SNW1', 'score': 10.45}, {'connected_gene': 'RPL21P10', 'score': 10.32}, {'connected_gene': 'CIPC', 'score': 9.66}, {'connected_gene': 'POMT2', 'score': 6.49}, {'connected_gene': 'SPTLC2', 'score': 4.43}, {'connected_gene': 'PIR44060', 'score': 0.77}]
chr14 GH14I077551 77551679 77552743 0.49 [{'connected_gene': 'VIPAS39', 'score': 12.05}, {'connected_gene': 'AHSA1', 'score': 12.05}, {'connected_gene': 'POMT2', 'score': 10.61}, {'connected_gene': 'GSTZ1', 'score': 10.61}, {'connected_gene': 'ZDHHC22', 'score': 10.41}, {'connected_gene': 'TMED8', 'score': 10.06}, {'connected_gene': 'SAMD15', 'score': 10.06}, {'connected_gene': 'SPTLC2', 'score': 9.43}, {'connected_gene': 'RN7SL587P', 'score': 0.77}]
chr14 GH14I077552 77551458 77551607 0.74 [{'connected_gene': 'VIPAS39', 'score': 12.05}, {'connected_gene': 'AHSA1', 'score': 12.05}, {'connected_gene': 'POMT2', 'score': 10.61}, {'connected_gene': 'GSTZ1', 'score': 10.61}, {'connected_gene': 'ZDHHC22', 'score': 10.41}, {'connected_gene': 'TMED8', 'score': 10.06}, {'connected_gene': 'SAMD15', 'score': 10.06}, {'connected_gene': 'SPTLC2', 'score': 9.41}, {'connected_gene': 'RN7SL587P', 'score': 0.77}]
chr14 GH14I077456 77456412 77459494 2.06 [{'connected_gene': 'VIPAS39', 'score': 556.03}, {'connected_gene': 'AHSA1', 'score': 550.77}, {'connected_gene': 'TMED8', 'score': 19.87}, {'connected_gene': 'ADCK1', 'score': 7.0}, {'connected_gene': 'ENSG00000212371', 'score': 0.44}]
chr14 GH14I077296 77296133 77297241 0.69 [{'connected_gene': 'GSTZ1', 'score': 23.4}, {'connected_gene': 'POMT2', 'score': 18.15}, {'connected_gene': 'NGB', 'score': 12.0}, {'connected_gene': 'MIR1260A', 'score': 11.54}, {'connected_gene': 'ZDHHC22', 'score': 11.28}, {'connected_gene': 'ENSG00000201384', 'score': 10.97}, {'connected_gene': 'VIPAS39', 'score': 10.52}, {'connected_gene': 'AHSA1', 'score': 10.52}, {'connected_gene': 'CIPC', 'score': 9.66}, {'connected_gene': 'TMEM63C', 'score': 4.87}, {'connected_gene': 'PIR44060', 'score': 0.44}, {'connected_gene': 'PIR56307', 'score': 0.34}]
chr14 GH14I077299 77299452 77301807 0.92 [{'connected_gene': 'GSTZ1', 'score': 24.52}, {'connected_gene': 'POMT2', 'score': 18.14}, {'connected_gene': 'NGB', 'score': 11.64}, {'connected_gene': 'MIR1260A', 'score': 11.24}, {'connected_gene': 'ZDHHC22', 'score': 10.99}, {'connected_gene': 'ENSG00000201384', 'score': 10.97}, {'connected_gene': 'VIPAS39', 'score': 10.53}, {'connected_gene': 'AHSA1', 'score': 10.53}, {'connected_gene': 'CIPC', 'score': 9.66}, {'connected_gene': 'PIR44060', 'score': 0.77}, {'connected_gene': 'PIR56307', 'score': 0.34}]
chr14 GH14I077541 77541586 77545009 1.04 [{'connected_gene': 'TMED8', 'score': 15.96}, {'connected_gene': 'VIPAS39', 'score': 11.64}, {'connected_gene': 'AHSA1', 'score': 11.64}, {'connected_gene': 'SAMD15', 'score': 10.23}, {'connected_gene': 'SPTLC2', 'score': 8.01}, {'connected_gene': 'ISM2', 'score': 6.02}, {'connected_gene': 'RN7SL587P', 'score': 0.77}, {'connected_gene': 'GC14M077506', 'score': 0.28}]
chr14 GH14I077371 77371287 77374562 1.02 [{'connected_gene': 'TMED8', 'score': 22.54}, {'connected_gene': 'POMT2', 'score': 21.25}, {'connected_gene': 'GSTZ1', 'score': 21.22}, {'connected_gene': 'ENSG00000259081', 'score': 11.04}, {'connected_gene': 'AHSA1', 'score': 10.66}, {'connected_gene': 'VIPAS39', 'score': 10.65}, {'connected_gene': 'SAMD15', 'score': 0.77}, {'connected_gene': 'LOC100422225', 'score': 0.39}]
chr14 GH14I077312 77312625 77318317 1.5 [{'connected_gene': 'TMED8', 'score': 23.4}, {'connected_gene': 'GSTZ1', 'score': 17.58}, {'connected_gene': 'NGB', 'score': 11.05}, {'connected_gene': 'ZDHHC22', 'score': 10.98}, {'connected_gene': 'ENSG00000201384', 'score': 10.7}, {'connected_gene': 'SAMD15', 'score': 10.69}, {'connected_gene': 'VIPAS39', 'score': 10.42}, {'connected_gene': 'AHSA1', 'score': 10.42}, {'connected_gene': 'TMEM63C', 'score': 10.0}, {'connected_gene': 'POMT2', 'score': 6.19}, {'connected_gene': 'PIR44060', 'score': 0.39}]
chr14 GH14I077406 77406601 77408000 0.96 [{'connected_gene': 'SAMD15', 'score': 33.29}, {'connected_gene': 'TMED8', 'score': 24.13}, {'connected_gene': 'VIPAS39', 'score': 11.24}, {'connected_gene': 'AHSA1', 'score': 11.24}, {'connected_gene': 'POMT2', 'score': 11.22}, {'connected_gene': 'GSTZ1', 'score': 11.22}, {'connected_gene': 'GC14M077403', 'score': 0.77}, {'connected_gene': 'NOXRED1', 'score': 0.37}]
chr14 GH14I077548 77548703 77550079 0.4 [{'connected_gene': 'RN7SL587P', 'score': 550.77}, {'connected_gene': 'TMED8', 'score': 16.16}, {'connected_gene': 'VIPAS39', 'score': 12.05}, {'connected_gene': 'AHSA1', 'score': 12.05}, {'connected_gene': 'POMT2', 'score': 10.62}, {'connected_gene': 'GSTZ1', 'score': 10.62}, {'connected_gene': 'SAMD15', 'score': 10.42}, {'connected_gene': 'ZDHHC22', 'score': 10.41}, {'connected_gene': 'SPTLC2', 'score': 7.57}]
chr14 GH14I077359 77359896 77359948 0.22 [{'connected_gene': 'LOC100422225', 'score': 550.77}, {'connected_gene': 'TMED8', 'score': 22.69}, {'connected_gene': 'POMT2', 'score': 11.39}, {'connected_gene': 'GSTZ1', 'score': 11.39}, {'connected_gene': 'VIPAS39', 'score': 10.63}, {'connected_gene': 'AHSA1', 'score': 10.63}, {'connected_gene': 'SAMD15', 'score': 0.37}]
chr14 GH14I077507 77507621 77509363 0.72 [{'connected_gene': 'GC14M077506', 'score': 550.77}, {'connected_gene': 'VIPAS39', 'score': 15.83}, {'connected_gene': 'AHSA1', 'score': 10.88}, {'connected_gene': 'TMED8', 'score': 10.5}, {'connected_gene': 'SAMD15', 'score': 10.5}, {'connected_gene': 'ISM2', 'score': 8.83}, {'connected_gene': 'RN7SL587P', 'score': 0.28}, {'connected_gene': 'SPTLC2', 'score': 0.14}]