Special

HsaEX6048502 @ hg19

Exon Skipping

Gene
Description
RNA guanylyltransferase and 5'-phosphatase [Source:HGNC Symbol;Acc:10073]
Coordinates
chr6:89388072-89511351:-
Coord C1 exon
chr6:89511283-89511351
Coord A exon
chr6:89479493-89479593
Coord C2 exon
chr6:89388072-89388138
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-'17-19,'17-18,19-19=AN
Average complexity
A_S
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=0.009
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(25.0=50.0)
C2:
PF0391910=mRNA_cap_C=FE(22.4=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
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