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
ENST00000399759 [[3468737, 3470281], [3474817, 3474933], [3475415, 3475543], [3476926, 3477249], [3480419, 3480486], [3480891, 3481057], [3483750, 3483821], [3486631, 3486724], [3489061, 3489220], [3491481, 3491661], [3493100, 3493399], [3493545, 3493686], [3494257, 3494410], [3494480, 3494647], [3495360, 3495677], [3498957, 3499125]] [[3470108, 3470281], [3474817, 3474933], [3475415, 3475543], [3476926, 3477249], [3480419, 3480486], [3480891, 3481057], [3483750, 3483821], [3486631, 3486724], [3489061, 3489220], [3491481, 3491661], [3493100, 3493399], [3493545, 3493686], [3494257, 3494410], [3494480, 3494647], [3495360, 3495644]]
ENST00000571088 [[3468737, 3470281], [3474817, 3474933], [3475415, 3475543], [3476926, 3477249], [3480419, 3480486], [3480891, 3481057], [3483750, 3483821], [3486631, 3486724], [3489061, 3489220], [3491481, 3491661], [3493100, 3493399], [3493545, 3493686], [3494257, 3494410], [3494480, 3494647], [3495360, 3495677], [3500211, 3500392]] [[3470108, 3470281], [3474817, 3474933], [3475415, 3475543], [3476926, 3477249], [3480419, 3480486], [3480891, 3481057], [3483750, 3483821], [3486631, 3486724], [3489061, 3489220], [3491481, 3491661], [3493100, 3493399], [3493545, 3493686], [3494257, 3494410], [3494480, 3494647], [3495360, 3495644]]
ENST00000174621 [[3468742, 3470281], [3474817, 3474933], [3475415, 3475543], [3476926, 3477249], [3480419, 3480486], [3480891, 3481057], [3483750, 3483821], [3486631, 3486724], [3489061, 3489220], [3491481, 3491661], [3493100, 3493399], [3493545, 3493686], [3494257, 3494647], [3495360, 3495677], [3500211, 3500392]] [[3470108, 3470281], [3474817, 3474933], [3475415, 3475543], [3476926, 3477249], [3480419, 3480486], [3480891, 3481057], [3483750, 3483821], [3486631, 3486724], [3489061, 3489220], [3491481, 3491661], [3493100, 3493399], [3493545, 3493686], [3494257, 3494647], [3495360, 3495568]]
ENST00000399756 [[3469087, 3470281], [3474817, 3474933], [3475415, 3475543], [3476926, 3477249], [3480419, 3480486], [3480891, 3481057], [3483750, 3483821], [3486631, 3486724], [3489061, 3489220], [3491481, 3491661], [3493100, 3493399], [3493545, 3493686], [3494257, 3494410], [3494480, 3494647], [3495360, 3496171]] [[3470108, 3470281], [3474817, 3474933], [3475415, 3475543], [3476926, 3477249], [3480419, 3480486], [3480891, 3481057], [3483750, 3483821], [3486631, 3486724], [3489061, 3489220], [3491481, 3491661], [3493100, 3493399], [3493545, 3493686], [3494257, 3494410], [3494480, 3494647], [3495360, 3495644]]
ENST00000425167 [[3470071, 3470281], [3474817, 3474933], [3475415, 3475543], [3476926, 3477249], [3480419, 3480486], [3480891, 3481057], [3483750, 3483821], [3486631, 3486724], [3489061, 3489220], [3491481, 3491661], [3492225, 3492258], [3493100, 3493399], [3493545, 3493686], [3494257, 3494410], [3494480, 3494647], [3495360, 3495661]] [[3470108, 3470281], [3474817, 3474933], [3475415, 3475543], [3476926, 3477249], [3480419, 3480486], [3480891, 3481057], [3483750, 3483821], [3486631, 3486724], [3489061, 3489220], [3491481, 3491661], [3492225, 3492258], [3493100, 3493399], [3493545, 3493686], [3494257, 3494410], [3494480, 3494647], [3495360, 3495644]]
ENST00000574085 [[3470071, 3470281], [3474817, 3474933], [3475415, 3475543], [3476926, 3477249], [3480419, 3480486], [3480891, 3481057], [3483750, 3483821], [3486631, 3486724], [3489061, 3489220], [3491481, 3491661], [3493100, 3493399], [3493545, 3493686], [3494257, 3494647], [3495360, 3495661]] None
ENST00000576351 [[3470106, 3470281], [3474817, 3474933], [3475415, 3475543], [3476926, 3477249], [3480419, 3480486], [3480891, 3481057], [3483750, 3483821], [3486631, 3486724], [3489061, 3489220], [3491511, 3491661], [3493100, 3493399], [3493545, 3493686], [3494257, 3494410], [3494480, 3494647], [3495360, 3495677]] [[3470108, 3470281], [3474817, 3474933], [3475415, 3475543], [3476926, 3477249], [3480419, 3480486], [3480891, 3481057], [3483750, 3483821], [3486631, 3486724], [3489061, 3489220], [3491511, 3491661], [3493100, 3493399], [3493545, 3493686], [3494257, 3494410], [3494480, 3494647], [3495360, 3495644]]
ENST00000310522 [[3470108, 3470281], [3474817, 3474933], [3475415, 3475543], [3476926, 3477249], [3480419, 3480486], [3480891, 3481057], [3483750, 3483821], [3486631, 3486724], [3489061, 3489220], [3493100, 3493399], [3493545, 3493686], [3494257, 3494410], [3494480, 3494647], [3495360, 3495644]] [[3470108, 3470281], [3474817, 3474933], [3475415, 3475543], [3476926, 3477249], [3480419, 3480486], [3480891, 3481057], [3483750, 3483821], [3486631, 3486724], [3489061, 3489220], [3493100, 3493399], [3493545, 3493686], [3494257, 3494410], [3494480, 3494647], [3495360, 3495644]]
ENST00000570742 [[3477115, 3477249], [3480419, 3480486], [3480891, 3481182]] None
NM_080706 [[3468739, 3470281], [3474817, 3474933], [3475415, 3475543], [3476926, 3477249], [3480419, 3480486], [3480891, 3481057], [3483750, 3483821], [3486631, 3486724], [3489061, 3489220], [3491481, 3491661], [3493100, 3493399], [3493545, 3493686], [3494257, 3494410], [3494480, 3494647], [3495360, 3496171]] [[3470108, 3470281], [3474817, 3474933], [3475415, 3475543], [3476926, 3477249], [3480419, 3480486], [3480891, 3481057], [3483750, 3483821], [3486631, 3486724], [3489061, 3489220], [3491481, 3491661], [3493100, 3493399], [3493545, 3493686], [3494257, 3494410], [3494480, 3494647], [3495360, 3495644]]
NM_080705 [[3468739, 3470281], [3474817, 3474933], [3475415, 3475543], [3476926, 3477249], [3480419, 3480486], [3480891, 3481057], [3483750, 3483821], [3486631, 3486724], [3489061, 3489220], [3491481, 3491661], [3493100, 3493399], [3493545, 3493686], [3494257, 3494410], [3494480, 3494647], [3495360, 3495677], [3498957, 3499125]] [[3470108, 3470281], [3474817, 3474933], [3475415, 3475543], [3476926, 3477249], [3480419, 3480486], [3480891, 3481057], [3483750, 3483821], [3486631, 3486724], [3489061, 3489220], [3491481, 3491661], [3493100, 3493399], [3493545, 3493686], [3494257, 3494410], [3494480, 3494647], [3495360, 3495644]]
NM_018727 [[3468739, 3470281], [3474817, 3474933], [3475415, 3475543], [3476926, 3477249], [3480419, 3480486], [3480891, 3481057], [3483750, 3483821], [3486631, 3486724], [3489061, 3489220], [3491481, 3491661], [3493100, 3493399], [3493545, 3493686], [3494257, 3494410], [3494480, 3494647], [3495360, 3495677], [3500211, 3500336]] [[3470108, 3470281], [3474817, 3474933], [3475415, 3475543], [3476926, 3477249], [3480419, 3480486], [3480891, 3481057], [3483750, 3483821], [3486631, 3486724], [3489061, 3489220], [3491481, 3491661], [3493100, 3493399], [3493545, 3493686], [3494257, 3494410], [3494480, 3494647], [3495360, 3495644]]
NM_080704 [[3468739, 3470281], [3474817, 3474933], [3475415, 3475543], [3476926, 3477249], [3480419, 3480486], [3480891, 3481057], [3483750, 3483821], [3486631, 3486724], [3489061, 3489220], [3491481, 3491661], [3493100, 3493399], [3493545, 3493686], [3494257, 3494410], [3494480, 3494647], [3495360, 3495677], [3511720, 3511859], [3512602, 3512705]] [[3470108, 3470281], [3474817, 3474933], [3475415, 3475543], [3476926, 3477249], [3480419, 3480486], [3480891, 3481057], [3483750, 3483821], [3486631, 3486724], [3489061, 3489220], [3491481, 3491661], [3493100, 3493399], [3493545, 3493686], [3494257, 3494410], [3494480, 3494647], [3495360, 3495644]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I003562 3562473 3563683 0.72 [{'connected_gene': 'TRPV1', 'score': 11.98}, {'connected_gene': 'SHPK', 'score': 8.07}, {'connected_gene': 'ASPA', 'score': 6.99}, {'connected_gene': 'TRPV3', 'score': 0.44}, {'connected_gene': 'ENSG00000263338', 'score': 0.37}]
chr17 GH17I003593 3593667 3595648 0.79 [{'connected_gene': 'TRPV1', 'score': 8.17}, {'connected_gene': 'TRPV3', 'score': 5.8}, {'connected_gene': 'ENSG00000261916', 'score': 0.44}, {'connected_gene': 'PIR44716', 'score': 0.39}, {'connected_gene': 'ENSG00000262304', 'score': 0.26}]
chr17 GH17I003609 3609478 3609537 0.5 [{'connected_gene': 'TRPV1', 'score': 550.77}, {'connected_gene': 'LOC100422717', 'score': 0.39}, {'connected_gene': 'ENSG00000262304', 'score': 0.31}, {'connected_gene': 'SHPK', 'score': 0.31}]
chr17 GH17I003597 3597065 3597124 0.5 [{'connected_gene': 'TRPV1', 'score': 550.39}, {'connected_gene': 'ENSG00000261916', 'score': 0.44}, {'connected_gene': 'PIR44716', 'score': 0.37}, {'connected_gene': 'ENSG00000262304', 'score': 0.28}]
chr17 GH17I003606 3606819 3606878 0.5 [{'connected_gene': 'TRPV1', 'score': 550.77}, {'connected_gene': 'ENSG00000261916', 'score': 0.77}, {'connected_gene': 'ENSG00000262304', 'score': 0.31}]
chr17 GH17I003130 3130707 3130950 0.22 [{'connected_gene': 'OR3A2', 'score': 16.83}, {'connected_gene': 'OR1A1', 'score': 13.99}, {'connected_gene': 'OR1E2', 'score': 11.74}, {'connected_gene': 'OR1G1', 'score': 9.97}, {'connected_gene': 'OR1A2', 'score': 9.15}, {'connected_gene': 'TRPV3', 'score': 3.02}, {'connected_gene': 'TRPV1', 'score': 1.63}, {'connected_gene': 'GC17P003146', 'score': 0.37}]
chr17 GH17I003528 3528491 3532326 1.43 [{'connected_gene': 'TRPV3', 'score': 40.69}, {'connected_gene': 'ASPA', 'score': 32.22}, {'connected_gene': 'OR1E2', 'score': 10.43}, {'connected_gene': 'CAMKK1', 'score': 3.36}, {'connected_gene': 'TRPV1', 'score': 3.19}, {'connected_gene': 'GC17M003518', 'score': 0.44}, {'connected_gene': 'SPATA22', 'score': 0.37}]
chr17 GH17I003574 3574163 3576390 0.38 [{'connected_gene': 'TRPV3', 'score': 13.47}, {'connected_gene': 'SHPK', 'score': 6.73}, {'connected_gene': 'ENSG00000263338', 'score': 0.77}, {'connected_gene': 'TRPV1', 'score': 0.29}]
chr17 GH17I003603 3603210 3604058 0.43 [{'connected_gene': 'ENSG00000261916', 'score': 550.77}, {'connected_gene': 'CTNS', 'score': 6.06}, {'connected_gene': 'TRPV1', 'score': 0.44}, {'connected_gene': 'ENSG00000262304', 'score': 0.29}]