HsaEX6048502 @ hg38
Exon Skipping
Gene
ENSG00000111880 | RNGTT
Description
RNA guanylyltransferase and 5'-phosphatase [Source:HGNC Symbol;Acc:HGNC:10073]
Coordinates
chr6:88678353-88801632:-
Coord C1 exon
chr6:88801564-88801632
Coord A exon
chr6:88769774-88769874
Coord C2 exon
chr6:88678353-88678419
Length
101 bp
Sequences
Splice sites
3' ss Seq
ATCATTTTAATTGGCTTTAGAAA
3' ss Score
5.62
5' ss Seq
AGGGTAAGT
5' ss Score
10.45
Exon sequences
Seq C1 exon
CTACTTGAAGGAAATTTTGCCAAAGAAGTGAGCCATGAAATGGATGGACTTATTTTTCAGCCTACTGGA
Seq A exon
AAATACAAACCTGGTCGATGTGATGATATTTTGAAATGGAAGCCTCCCAGTCTGAATTCTGTGGATTTTCGTCTAAAAATAACAAGAATGGGAGGAGAAGG
Seq C2 exon
GTTACTTCCTCAGAATGTTGGCCTCCTGTATGTTGGAGGTTATGAAAGACCCTTTGCACAAATCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000111880-'34-43,'34-38,36-43
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.006
Domain overlap (PFAM):
C1:
PF0133114=mRNA_cap_enzyme=FE(11.6=100)
A:
PF0133114=mRNA_cap_enzyme=PD(6.9=38.2),PF0391910=mRNA_cap_C=PU(17.3=50.0)
C2:
PF0391910=mRNA_cap_C=FE(22.4=100)
Main Skipping Isoform:
ENST00000369485fB24719
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACTTGAAGGAAATTTTGCCAAAGA
R:
TGATTTGTGCAAAGGGTCTTTCA
Band lengths:
132-233
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains