Special

HsaEX0054170 @ hg19

Exon Skipping

Gene
Description
RNA guanylyltransferase and 5'-phosphatase [Source:HGNC Symbol;Acc:10073]
Coordinates
chr6:89511283-89554240:-
Coord C1 exon
chr6:89554076-89554240
Coord A exon
chr6:89513417-89513528
Coord C2 exon
chr6:89511283-89511351
Length
112 bp
Sequences
Splice sites
3' ss Seq
TATTGTTACTTTACATACAGGCA
3' ss Score
5.88
5' ss Seq
AAGGTTACA
5' ss Score
-0.83
Exon sequences
Seq C1 exon
TCACAGCCCGTTGGAGATTGTGATTTTAATGTTCGTCTGCAGTGTATAGAACGAGAAATTATAAGTCCTCGACACGAAAAAATGAAGACTGGGCTCATTGACAAAACACAGGAACCATTTAGCGTCAGAAATAAGCCGTTTTTTGACATCTGTACTTCAAGAAAG
Seq A exon
GCATGGTCCATTACATGAATTTGAGAAGTTTGGTTGAAGAATGGAAACTACCATGTTAACTTGCCATAAATGATGTACCTACAATACAAGTAGAGCAAATGAAAGATTAAAG
Seq C2 exon
CTACTTGAAGGAAATTTTGCCAAAGAAGTGAGCCATGAAATGGATGGACTTATTTTTCAGCCTACTGGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000111880-'15-16,'15-15,16-16
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

Show PDB structure
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0133114=mRNA_cap_enzyme=FE(35.1=100)
A:
PF0133114=mRNA_cap_enzyme=PD(2.5=66.7)
C2:
PF0133114=mRNA_cap_enzyme=FE(11.6=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCACAGCCCGTTGGAGATTGT
R:
TCCAGTAGGCTGAAAAATAAGTCCA
Band lengths:
234-346
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development