HsaEX0059848 @ hg38
Exon Skipping
Gene
ENSG00000050438 | SLC4A8
Description
solute carrier family 4 member 8 [Source:HGNC Symbol;Acc:HGNC:11034]
Coordinates
chr12:51493704-51495118:+
Coord C1 exon
chr12:51493704-51493772
Coord A exon
chr12:51494806-51494859
Coord C2 exon
chr12:51494945-51495118
Length
54 bp
Sequences
Splice sites
3' ss Seq
AATTGCCTGGTCTTTTAAAGTCT
3' ss Score
5.07
5' ss Seq
CAGGTAATG
5' ss Score
9.43
Exon sequences
Seq C1 exon
TTTATTCCAATGCCAGTACTCTACGGAGTTTTCCTTTACATGGGAGTTTCTTCACTACAGGGAATTCAG
Seq A exon
TCTCAGTTTCCATTTCTGTCCAGAGGAAATGGTGTTACCTACCTTTCAGAGCAG
Seq C2 exon
TTCTTTGATCGTCTAAAGCTCTTTGGGATGCCCGCAAAGCACCAGCCAGATTTCATCTACCTGCGGCATGTGCCGCTGCGCAAAGTGCACCTCTTCACCCTCATCCAGTTGACCTGTCTCGTCCTGCTCTGGGTCATCAAGGCATCTCCAGCTGCCATTGTTTTCCCAATGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000050438_MULTIEX3-5/5=4-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0095516=HCO3_cotransp=FE(4.3=100)
A:
PF0095516=HCO3_cotransp=FE(3.2=100)
C2:
PF0095516=HCO3_cotransp=PD(6.6=58.6)
Main Inclusion Isoform:
ENST00000358657fB6500
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGGAGTTTCTTCACTACAGGGA
R:
ATGAGGGTGAAGAGGTGCACT
Band lengths:
133-187
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development