HsaEX6066573 @ hg38
Exon Skipping
Gene
ENSG00000050438 | SLC4A8
Description
solute carrier family 4 member 8 [Source:HGNC Symbol;Acc:HGNC:11034]
Coordinates
chr12:51452124-51457539:+
Coord C1 exon
chr12:51452124-51452259
Coord A exon
chr12:51453539-51453699
Coord C2 exon
chr12:51457351-51457539
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-'17-31,'17-27,20-31=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=0.300 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)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
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