Special

HsaEX6066573 @ hg19

Exon Skipping

Gene
ENSG00000050438 | SLC4A8
Description
solute carrier family 4, sodium bicarbonate cotransporter, member 8 [Source:HGNC Symbol;Acc:11034]
Coordinates
chr12:51845908-51851323:+
Coord C1 exon
chr12:51845908-51846043
Coord A exon
chr12:51847323-51847483
Coord C2 exon
chr12:51851135-51851323
Length
161 bp
Sequences
Splice sites
3' ss Seq
GTTATTTGTAATGCTTTCAGGTG
3' ss Score
6.96
5' ss Seq
CAGGTAAGG
5' ss Score
11.08
Exon sequences
Seq C1 exon
ACACACCATCTCAGCGTGTTCAGTTCATTCTTGGCACCGAGGAAGATGAAGAGCATGTGCCTCATGAGCTGTTTACAGAGCTGGATGAGATCTGTATGAAAGAGGGAGAAGATGCTGAGTGGAAGGAAACAGCCAG
Seq A exon
GTGGCTGAAGTTTGAAGAAGATGTTGAAGATGGGGGAGAACGCTGGAGCAAGCCTTATGTGGCAACCCTTTCATTGCACAGCCTGTTTGAGCTAAGGAGCTGCCTTATTAATGGAACAGTCCTCCTGGATATGCATGCAAATAGCATAGAAGAAATTTCAG
Seq C2 exon
ACCTGATCCTGGATCAGCAAGAACTGTCCAGTGACCTGAATGACAGCATGAGGGTTAAAGTGCGGGAAGCCCTTCTCAAAAAGCATCATCATCAGAATGAAAAGAAGAGAAACAACCTCATTCCCATTGTTCGCTCCTTTGCTGAGGTTGGCAAGAAGCAGTCTGATCCTCATTTGATGGATAAACATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000050438-'4-5,'4-4,5-5=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.260 A=0.000 C2=0.250
Domain overlap (PFAM):

C1:
NO
A:
PF075658=Band_3_cyto=PU(18.1=85.5)
C2:
PF075658=Band_3_cyto=FE(24.2=100),PF120133=DUF3505=PU(59.3=75.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GCACCGAGGAAGATGAAGAGC
R:
TTGCCAACCTCAGCAAAGGAG
Band lengths:
257-418
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains