HsaEX0059854 @ hg38
Exon Skipping
Gene
ENSG00000050438 | SLC4A8
Description
solute carrier family 4 member 8 [Source:HGNC Symbol;Acc:HGNC:11034]
Coordinates
chr12:51488699-51493772:+
Coord C1 exon
chr12:51488699-51488860
Coord A exon
chr12:51489700-51489951
Coord C2 exon
chr12:51493704-51493772
Length
252 bp
Sequences
Splice sites
3' ss Seq
AAGACTCTGTTTCCCCACAGAAA
3' ss Score
9.56
5' ss Seq
AAGGTAATC
5' ss Score
7.46
Exon sequences
Seq C1 exon
CCAACAAGGGATGATCGCGGATGGATTATTAATCCCATTGGCCCCAATCCCTGGTGGACTGTGATAGCTGCAATTATCCCAGCTCTTCTCTGTACTATCTTGATATTCATGGATCAGCAGATCACAGCCGTCATTATTAACAGGAAGGAACATAAGCTCAAG
Seq A exon
AAAGGCTGTGGCTACCACCTGGACCTACTGATGGTGGCCATCATGCTGGGTGTCTGCTCCATCATGGGCCTGCCCTGGTTTGTAGCTGCAACTGTCTTGTCCATCACACATGTGAACAGCCTCAAGCTAGAATCTGAATGCTCTGCTCCTGGAGAACAGCCCAAGTTCCTGGGCATCCGAGAACAGAGAGTGACAGGCCTTATGATCTTTGTGCTGATGGGCTGCTCAGTCTTCATGACGGCTATCTTAAAG
Seq C2 exon
TTTATTCCAATGCCAGTACTCTACGGAGTTTTCCTTTACATGGGAGTTTCTTCACTACAGGGAATTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000050438_MULTIEX3-3/5=2-4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (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(10.3=100)
A:
PF0095516=HCO3_cotransp=FE(16.1=100)
C2:
PF0095516=HCO3_cotransp=FE(4.3=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AACAAGGGATGATCGCGGATG
R:
TGAATTCCCTGTAGTGAAGAAACTCC
Band lengths:
228-480
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