HsaEX0059852 @ hg38
Exon Skipping
Gene
ENSG00000050438 | SLC4A8
Description
solute carrier family 4 member 8 [Source:HGNC Symbol;Acc:HGNC:11034]
Coordinates
chr12:51475045-51488860:+
Coord C1 exon
chr12:51475045-51475206
Coord A exon
chr12:51485787-51485900
Coord C2 exon
chr12:51488699-51488860
Length
114 bp
Sequences
Splice sites
3' ss Seq
CCACTTCTTTCTCATGCCAGGTA
3' ss Score
9.7
5' ss Seq
AAGGTAAAC
5' ss Score
8.14
Exon sequences
Seq C1 exon
GAATGCCAGGAGATGCATGGAGAGTTCATGGGATCTGCGTGCGGCCATCATGGACCCTACACTCCTGATGTCCTCTTTTGGTCCTGTATTCTCTTTTTCACCACCTTCATCCTCTCAAGCACCTTAAAGACGTTTAAGACGAGCCGTTATTTCCCAACCAGA
Seq A exon
GTACGCTCCATGGTGAGTGACTTTGCTGTTTTCCTCACTATCTTCACAATGGTGATTATTGATTTTTTGATTGGAGTCCCATCACCAAAGCTTCAAGTTCCCAGTGTGTTCAAG
Seq C2 exon
CCAACAAGGGATGATCGCGGATGGATTATTAATCCCATTGGCCCCAATCCCTGGTGGACTGTGATAGCTGCAATTATCCCAGCTCTTCTCTGTACTATCTTGATATTCATGGATCAGCAGATCACAGCCGTCATTATTAACAGGAAGGAACATAAGCTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000050438-'42-59,'42-56,50-59
Average complexity
C1
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(11.6=100)
C2:
PF0095516=HCO3_cotransp=FE(10.3=100)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCCATCATGGACCCTACACT
R:
AATGACGGCTGTGATCTGCTG
Band lengths:
255-369
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development