HsaEX0054168 @ hg38
Exon Skipping
Gene
ENSG00000111880 | RNGTT
Description
RNA guanylyltransferase and 5'-phosphatase [Source:HGNC Symbol;Acc:HGNC:10073]
Coordinates
chr6:88844357-88890596:-
Coord C1 exon
chr6:88890495-88890596
Coord A exon
chr6:88853629-88853764
Coord C2 exon
chr6:88844357-88844521
Length
136 bp
Sequences
Splice sites
3' ss Seq
TTTTAATGTTTCATTTACAGGTA
3' ss Score
11.86
5' ss Seq
GGCGTAAGT
5' ss Score
9.39
Exon sequences
Seq C1 exon
GTCTGGATTCCCTGGAGCACAGCCTGTTTCCATGGACAAGCAAAATATTAAACTTTTAGACCTGAAGCCATACAAAGTAAGCTGGAAAGCAGATGGTACTCG
Seq A exon
GTACATGATGTTGATTGATGGCACAAATGAAGTTTTTATGATTGATAGAGACAATTCAGTATTTCATGTTTCAAATCTGGAATTTCCATTTCGTAAAGATCTTCGTATGCATTTATCAAATACTCTCTTGGATGGC
Seq C2 exon
TCACAGCCCGTTGGAGATTGTGATTTTAATGTTCGTCTGCAGTGTATAGAACGAGAAATTATAAGTCCTCGACACGAAAAAATGAAGACTGGGCTCATTGACAAAACACAGGAACCATTTAGCGTCAGAAATAAGCCGTTTTTTGACATCTGTACTTCAAGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000111880_MULTIEX2-7/12=2-9
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.023 A=0.000 C2=0.002
Domain overlap (PFAM):
C1:
PF0133114=mRNA_cap_enzyme=PU(17.5=77.1)
A:
PF0133114=mRNA_cap_enzyme=FE(29.2=100)
C2:
PF0133114=mRNA_cap_enzyme=FE(35.1=100)
Main Skipping Isoform:
ENST00000369485fB24720
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCTGGATTCCCTGGAGCACA
R:
AAACGGCTTATTTCTGACGCT
Band lengths:
243-379
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development