Special

HsaEX0054175 @ hg19

Exon Skipping

Gene
Description
RNA guanylyltransferase and 5'-phosphatase [Source:HGNC Symbol;Acc:10073]
Coordinates
chr6:89638883-89673315:-
Coord C1 exon
chr6:89673065-89673315
Coord A exon
chr6:89650790-89650899
Coord C2 exon
chr6:89638883-89638986
Length
110 bp
Sequences
Splice sites
3' ss Seq
TACCTATCTGTGTTGTTTAGGAA
3' ss Score
7.87
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
Exon sequences
Seq C1 exon
TGTGGAGTTGATCCTGAATGAAAGTGGCGCGCCGCCCCTGACGTTACCCGGATCGGAGAGGTTGGAATTCAGATTACGGCTGCGATTCGGGTGTCTCGGACCCCGGTGTGCACCGGACCACGGGGAGGCGGCTCCAAAGGCGCGGTGAACGTTGGTGAGGGAGGGCAGCTCTGCGCAGCCCCAAGACATGGCTCACAACAAGATCCCGCCGCGGTGGCTGAACTGTCCCCGGCGCGGCCAGCCGGTGGCAG
Seq A exon
GAAGATTCTTACCTCTGAAGACAATGTTAGGACCAAGATATGATAGTCAAGTTGCTGAAGAAAATCGGTTCCATCCCAGCATGCTCTCAAATTACCTAAAGAGCCTAAAG
Seq C2 exon
GTTAAAATGGGCTTGTTGGTGGACCTGACAAATACTTCAAGGTTCTATGACCGAAATGACATAGAAAAAGAAGGAATCAAATATATAAAACTTCAGTGTAAAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000111880_CASSETTE2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.089 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF0078215=DSPc=PU(10.7=32.4)
C2:
PF0078215=DSPc=PU(26.3=93.9)


Main Inclusion Isoform:


Main Skipping Isoform:


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:
CCCCTGACGTTACCCGGATC
R:
TTGTCAGGTCCACCAACAAGC
Band lengths:
248-358
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