Special

HsaEX0059814 @ hg38

Exon Skipping

Gene
ENSG00000080493 | SLC4A4
Description
solute carrier family 4 member 4 [Source:HGNC Symbol;Acc:HGNC:11030]
Coordinates
chr4:71186757-71255399:+
Coord C1 exon
chr4:71186757-71187401
Coord A exon
chr4:71236576-71236649
Coord C2 exon
chr4:71255220-71255399
Length
74 bp
Sequences
Splice sites
3' ss Seq
TTTCTTTTTTATTACTATAGGAT
3' ss Score
9.69
5' ss Seq
AAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
CTGCAGGAGGCAAAGTAGAGTAGACGCCCGCGCTCTTACACACTCGCTCGCCGCGCACCACACAGGCTGTGTAGACATCCCCCCGCGCCACCTTTCCCCTTTCCTCGCGGGCCGTTCAGGTTGCAGTCCTGCCTGCTCCGAAGACCCTCCCGCCCCAGCGCCTTTGCCCCGCTCTCCCGCGCTCGCCTCTCTCCGGAGCGCGCACCCACCCAGGCGGCAAAGTTGTGACTACTTGGGCGCGGGTGACTGGCGCCCCGCTCGCTCCGCGCCCGGCGCAGACAACTTCCCGCGGCTCGGCCCCGCCGCGTCCCGGGCTCGCGCCTCCAGGGATTCCGCGGCCCCCCAGCCTCCAACCCCGGCGGCGCGCCGGGCAGCGCTTCGGTGGCGGCGGCGGCCGCGGTGGCAGCGAAGGCGGCGGCGGCGGCGGCAGTGGCAGTGGCCGCTGCAGCCCCACACTCCGCCGCCAAACTGGAGGAGCGACGGAAGCCAGACCCCAGGAG
Seq A exon
GATGGAGGATGAAGCTGTCCTGGACAGAGGGGCTTCCTTCCTCAAGCATGTGTGTGATGAAGAAGAAGTAGAAG
Seq C2 exon
GCCACCATACCATTTACATCGGAGTCCATGTGCCGAAGAGTTACAGGAGAAGGAGACGTCACAAGAGAAAGACAGGGCACAAAGAAAAGAAGGAAAAGGAGAGAATCTCTGAGAACTACTCTGACAAATCAGATATTGAAAATGCTGATGAATCCAGCAGCAGCATCCTAAAACCTCTCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000080493_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=NA A=0.119 C2=0.617
Domain overlap (PFAM):

C1:
NA
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
GAAGCCAGACCCCAGGAG
R:
TGCTGCTGCTGGATTCATCAG
Band lengths:
183-257
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