Special

HsaEX0059817 @ hg19

Exon Skipping

Gene
ENSG00000080493 | SLC4A4
Description
solute carrier family 4, sodium bicarbonate cotransporter, member 4 [Source:HGNC Symbol;Acc:11030]
Coordinates
chr4:72399944-72420925:+
Coord C1 exon
chr4:72399944-72400105
Coord A exon
chr4:72413365-72413437
Coord C2 exon
chr4:72420857-72420925
Length
73 bp
Sequences
Splice sites
3' ss Seq
ATCTTTTGATTTGGTTTCAGGGA
3' ss Score
8.33
5' ss Seq
AAGGTAAAT
5' ss Score
8.88
Exon sequences
Seq C1 exon
CCAACAAGTCCAAACCGAGGTTGGTTCGTTCCACCGTTTGGAGAAAACCCCTGGTGGGTGTGCCTTGCTGCTGCTATCCCGGCTTTGTTGGTCACTATACTGATTTTCATGGACCAACAAATTACAGCTGTGATTGTAAACAGGAAAGAACATAAACTCAAG
Seq A exon
GGAACAAAGAGTCACTGGAACCCTTGTGTTTATTCTGACTGGTCTGTCAGTCTTTATGGCTCCCATCTTGAAG
Seq C2 exon
TTTATACCCATGCCTGTACTCTATGGTGTGTTCCTGTATATGGGAGTAGCATCCCTTAATGGTGTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000080493_MULTIEX1-2/2=C1-C2
Average complexity
C3
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=0.000
Domain overlap (PFAM):

C1:
PF0095516=HCO3_cotransp=FE(10.2=100)
A:
PF0095516=HCO3_cotransp=FE(4.6=100)
C2:
PF0095516=HCO3_cotransp=FE(4.2=100)


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:
AAACCGAGGTTGGTTCGTTCC
R:
ACCATAGAGTACAGGCATGGGT
Band lengths:
178-251
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