HsaEX0059853 @ hg38
Exon Skipping
Gene
ENSG00000050438 | SLC4A8
Description
solute carrier family 4 member 8 [Source:HGNC Symbol;Acc:HGNC:11034]
Coordinates
chr12:51485787-51489951:+
Coord C1 exon
chr12:51485787-51485900
Coord A exon
chr12:51488699-51488860
Coord C2 exon
chr12:51489700-51489951
Length
162 bp
Sequences
Splice sites
3' ss Seq
TAATATATTTTCCCCCTTAGCCA
3' ss Score
6.54
5' ss Seq
AAGGTAAAA
5' ss Score
8.38
Exon sequences
Seq C1 exon
GTACGCTCCATGGTGAGTGACTTTGCTGTTTTCCTCACTATCTTCACAATGGTGATTATTGATTTTTTGATTGGAGTCCCATCACCAAAGCTTCAAGTTCCCAGTGTGTTCAAG
Seq A exon
CCAACAAGGGATGATCGCGGATGGATTATTAATCCCATTGGCCCCAATCCCTGGTGGACTGTGATAGCTGCAATTATCCCAGCTCTTCTCTGTACTATCTTGATATTCATGGATCAGCAGATCACAGCCGTCATTATTAACAGGAAGGAACATAAGCTCAAG
Seq C2 exon
AAAGGCTGTGGCTACCACCTGGACCTACTGATGGTGGCCATCATGCTGGGTGTCTGCTCCATCATGGGCCTGCCCTGGTTTGTAGCTGCAACTGTCTTGTCCATCACACATGTGAACAGCCTCAAGCTAGAATCTGAATGCTCTGCTCCTGGAGAACAGCCCAAGTTCCTGGGCATCCGAGAACAGAGAGTGACAGGCCTTATGATCTTTGTGCTGATGGGCTGCTCAGTCTTCATGACGGCTATCTTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000050438_MULTIEX3-2/5=C1-3
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(11.6=100)
A:
PF0095516=HCO3_cotransp=FE(10.3=100)
C2:
PF0095516=HCO3_cotransp=FE(16.1=100)
Main Skipping Isoform:
ENST00000358657fB6499
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGAGTCCCATCACCAAAGCT
R:
AGGCCTGTCACTCTCTGTTCT
Band lengths:
243-405
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