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
ENST00000263849 [[79578281, 79578399], [79588021, 79588098], [79590797, 79590914], [79598701, 79598843], [79601456, 79601608], [79609641, 79609741], [79610648, 79610748], [79627455, 79627563], [79629562, 79632000]] [[79578383, 79578399], [79588021, 79588098], [79590797, 79590914], [79598701, 79598843], [79601456, 79601608], [79609641, 79609741], [79610648, 79610748], [79627455, 79627563], [79629562, 79629728]]
ENST00000521873 [[79578323, 79578399], [79588021, 79588098], [79590797, 79591625]] None
ENST00000521176 [[79578363, 79578399], [79590797, 79590914], [79598701, 79598843], [79601456, 79601608], [79609641, 79609740]] None
ENST00000519307 [[79609640, 79609741], [79610648, 79610748], [79624224, 79624341], [79627455, 79627563], [79629562, 79629737]] [[79609640, 79609741], [79610648, 79610748], [79624224, 79624341], [79627455, 79627563], [79629562, 79629728]]
NM_016010 [[79578281, 79578399], [79588021, 79588098], [79590797, 79590914], [79598701, 79598843], [79601456, 79601608], [79609641, 79609741], [79610648, 79610748], [79627455, 79627563], [79629562, 79632000]] [[79578383, 79578399], [79588021, 79588098], [79590797, 79590914], [79598701, 79598843], [79601456, 79601608], [79609641, 79609741], [79610648, 79610748], [79627455, 79627563], [79629562, 79629728]]
Promoter
Chrom Start End Description
chr8 79578291 79578334 CAGE_peak_1_at_FAM164A_5end
chr8 79578337 79578360 CAGE_peak_2_at_FAM164A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I078515 78515174 78517962 2.16 [{'connected_gene': 'PKIA', 'score': 556.43}, {'connected_gene': 'IL7', 'score': 10.76}, {'connected_gene': 'ZC2HC1A', 'score': 9.71}, {'connected_gene': 'PKIA-AS1', 'score': 0.26}, {'connected_gene': 'LOC105375911', 'score': 0.11}]
chr8 GH08I078508 78508086 78508494 0.86 [{'connected_gene': 'ZC2HC1A', 'score': 10.64}, {'connected_gene': 'IL7', 'score': 10.0}, {'connected_gene': 'PKIA', 'score': 0.44}, {'connected_gene': 'GC08M078438', 'score': 0.25}, {'connected_gene': 'PKIA-AS1', 'score': 0.23}, {'connected_gene': 'LOC105375911', 'score': 0.1}]
chr8 GH08I078507 78507776 78507815 0.79 [{'connected_gene': 'ZC2HC1A', 'score': 10.64}, {'connected_gene': 'IL7', 'score': 10.0}, {'connected_gene': 'PKIA', 'score': 0.44}, {'connected_gene': 'GC08M078438', 'score': 0.25}, {'connected_gene': 'PKIA-AS1', 'score': 0.23}, {'connected_gene': 'LOC105375911', 'score': 0.1}]
chr8 GH08I078683 78683546 78683715 0.31 [{'connected_gene': 'ZC2HC1A', 'score': 11.05}, {'connected_gene': 'GC08M078610', 'score': 0.37}, {'connected_gene': 'IL7', 'score': 0.13}]
chr8 GH08I078664 78664715 78667402 2.2 [{'connected_gene': 'ZC2HC1A', 'score': 552.59}, {'connected_gene': 'LOC105375911', 'score': 550.77}, {'connected_gene': 'ENSG00000254352', 'score': 33.75}, {'connected_gene': 'IL7', 'score': 1.99}, {'connected_gene': 'GC08M078610', 'score': 0.28}]
chr8 GH08I078615 78615506 78615535 0.46 [{'connected_gene': 'ZC2HC1A', 'score': 10.91}, {'connected_gene': 'ENSG00000260398', 'score': 0.44}, {'connected_gene': 'GC08M078638', 'score': 0.31}, {'connected_gene': 'LOC105375911', 'score': 0.23}, {'connected_gene': 'GC08M078610', 'score': 0.17}]
chr8 GH08I078671 78671801 78672000 0.2 [{'connected_gene': 'ZC2HC1A', 'score': 0.44}, {'connected_gene': 'GC08M078610', 'score': 0.31}]
chr8 GH08I078685 78685382 78685536 0.22 [{'connected_gene': 'ENSG00000254352', 'score': 21.98}, {'connected_gene': 'ZC2HC1A', 'score': 1.67}, {'connected_gene': 'PKIA', 'score': 1.61}, {'connected_gene': 'GC08M078610', 'score': 0.37}, {'connected_gene': 'IL7', 'score': 0.13}]