Special

HsaEX0054169 @ hg38

Exon Skipping

Gene
Description
RNA guanylyltransferase and 5'-phosphatase [Source:HGNC Symbol;Acc:HGNC:10073]
Coordinates
chr6:88844357-88853764:-
Coord C1 exon
chr6:88853629-88853764
Coord A exon
chr6:88849755-88849826
Coord C2 exon
chr6:88844357-88844521
Length
72 bp
Sequences
Splice sites
3' ss Seq
ACCTTCTTTTCTCTTTCAAGGAG
3' ss Score
10.52
5' ss Seq
AATGTAAGT
5' ss Score
8.62
Exon sequences
Seq C1 exon
GTACATGATGTTGATTGATGGCACAAATGAAGTTTTTATGATTGATAGAGACAATTCAGTATTTCATGTTTCAAATCTGGAATTTCCATTTCGTAAAGATCTTCGTATGCATTTATCAAATACTCTCTTGGATGGC
Seq A exon
GAGATGATTATTGACAGAGTAAATGGACAGGCTGTTCCTAGATATTTGATATATGACATAATTAAATTCAAT
Seq C2 exon
TCACAGCCCGTTGGAGATTGTGATTTTAATGTTCGTCTGCAGTGTATAGAACGAGAAATTATAAGTCCTCGACACGAAAAAATGAAGACTGGGCTCATTGACAAAACACAGGAACCATTTAGCGTCAGAAATAAGCCGTTTTTTGACATCTGTACTTCAAGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000111880_MULTIEX2-8/12=7-9
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.002
Domain overlap (PFAM):

C1:
PF0133114=mRNA_cap_enzyme=FE(29.2=100)
A:
PF0133114=mRNA_cap_enzyme=FE(14.9=100)
C2:
PF0133114=mRNA_cap_enzyme=FE(35.1=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


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:
CCATTTCGTAAAGATCTTCGTATGCA
R:
TGACGCTAAATGGTTCCTGTGT
Band lengths:
178-250
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